BACKGROUND Perinatal depression affects 10%-20%of pregnant women and subsequently influences maternal health and fetal development.Concerns over the safety of antidepressants during pregnancy have prompted the explora...BACKGROUND Perinatal depression affects 10%-20%of pregnant women and subsequently influences maternal health and fetal development.Concerns over the safety of antidepressants during pregnancy have prompted the exploration of nutritional interventions as adjunct therapies.This study evaluated the impact of combining preconception and prenatal supplementation with myo-inositol,probiotics,and trace elements on mood,quality of life,and fetal development in depressed mothers.This retrospective cohort study included 314 pregnant women who were diag-nosed with mild to moderate depression,as determined by a Zung self-rating depression scale score of less than 69.The participants were divided into an intervention group(n=161)receiving myo-inositol,probiotics,and trace elements and a control group(n=153)without supplementation.Supplementation comm-enced 3 months before conception and continued through pregnancy.Psychiatric symptoms and quality of life were evaluated using the positive and negative affect schedule-now,state-trait anxiety inventory,Patient Health Ques-tionnaire-8,and World Health Organization Quality of life Assessment:Brief Version scales preconception and postpartum.Fetal development metrics were assessed via ultrasound,and neonatal outcomes were recorded.RESULTS The intervention group presented significant reductions in gestational diabetes mellitus(13.04%vs 23.53%,P=0.016)and gestational hypertension(3.73%vs 9.15%,P=0.049).Higher levels of inositol,iron,zinc,and probiotics were observed near term in the intervention group.Postpartum mood assessments indicated lower anxiety and depression scores for the intervention group,with significant improvements in the positive and negative affect schedule-now(P=0.002),trait anxiety(P=0.002),and Patient Health Questionnaire-8(P=0.018)scores.The World Health Organization Quality of life Assessment:Brief Version scores improved in the psychological(P=0.041)and environmental(P=0.009)domains postpartum.Fetal biparietal diameter and femoral length were greater in the intervention group alongside better neonatal body length and reduced neonatal unit admissions(2.48%vs 7.84%,P=0.031).CONCLUSION Combined supplementation with myo-inositol,probiotics,and trace elements from preconception through pregnancy may reduce pregnancy-related complications,enhance mood and quality of life,and improve fetal growth metrics.展开更多
A 28-year-old pregnant woman with no prior obstetric complications had a normal prenatal workup before 24 weeks'gestation.At 24 weeks,ultrasound revealed gastrointestinal malformations,a persistent left superior v...A 28-year-old pregnant woman with no prior obstetric complications had a normal prenatal workup before 24 weeks'gestation.At 24 weeks,ultrasound revealed gastrointestinal malformations,a persistent left superior vena cava,and polyhydramnios.展开更多
BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,an...BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,and short stature.Approximately 60%-70%of patients with CCD have mutations in the RUNX family transcription factor 2 gene.However,prenatal diagnosis of CCD is difficult when the family history is unknown.CASE SUMMARY We report a rare case of fetal CCD with an unknown family history,confirmed by prenatal ultrasonography and genetic testing at a gestational age of 16 weeks.The genetic reports indicated that the fetus carried pathogenic mutations in the RUNX family transcription factor 2 gene(c.674G>A).After careful consideration,the pregnant woman and her family decided to continue the pregnancy.CONCLUSION Definitive prenatal diagnosis of CCD should include family history,ultrasound diagnosis,and genetic analysis,especially if family history is unknown.展开更多
Purpose:Derivative chromosomes,resulting from complex structural rearrangements,pose significant challenges in prenatal diagnosis due to their unpredictable inheritance patterns and potential phenotypic consequences.T...Purpose:Derivative chromosomes,resulting from complex structural rearrangements,pose significant challenges in prenatal diagnosis due to their unpredictable inheritance patterns and potential phenotypic consequences.This study evaluates the efficacy of multiple genetic technologies-including karyotyping,fluorescence in situ hybridization(FISH),chromosomal microarray analysis(CMA),and next-generation sequencing(NGS)-in detecting and characterizing derivative chromosomes in prenatal samples.methodology:We analyzed 150 cases of suspected chromosomal abnormalities,comparing detection rates,resolution,and clinical utility across these methods.Results:Our findings demonstrate that integrated multi-technology approaches significantly improve diagnostic accuracy,with NGS-based structural variation analysis achieving the highest detection sensitivity(99.2%)for cryptic rearrangements.Conclusions:Additionally,long-read sequencing(PacBio/Oxford Nanopore)enabled precise breakpoint mapping in 92%of cases,facilitating more accurate genetic counseling.Clinically,this approach enhances risk assessment for fetal anomalies,guides pregnancy management,and improves parental counseling for recurrence risks.展开更多
Introduction Aortic arch anomalies are congenital malformations of the position or branching of the aortic arch,or both.Double aortic arch(DAA)is a very rare malformation,affecting approximately 0.005%~0.007% of fetus...Introduction Aortic arch anomalies are congenital malformations of the position or branching of the aortic arch,or both.Double aortic arch(DAA)is a very rare malformation,affecting approximately 0.005%~0.007% of fetuses[1],and there has been no relevant literature mentioning the prenatal finding DAA in Macao till now.展开更多
BACKGROUND Floating-harbor syndrome(FHS)is a rare genetic disorder caused by pathogenic variants in the SRCAP gene.Most individuals with FHS have short stature,delayed speech and language development,and dysmorphic fa...BACKGROUND Floating-harbor syndrome(FHS)is a rare genetic disorder caused by pathogenic variants in the SRCAP gene.Most individuals with FHS have short stature,delayed speech and language development,and dysmorphic facial features.However,the patients with FHS are not easy to diagnose due to the overlap of clinical phenotypes with other disorders.CASE SUMMARY We reported a 10-year-old boy who presented with severe short stature,developmental delay and distinctive facial features.Exome sequencing was provided for the proband and his parents.We identified a novel frameshift variant c.7235delinsGT(p.Thr2412fs)in SRCAP gene,and the variant was further validated by Sanger sequencing.The mother of the proband was referred to us for prenatal consultation during next pregnancy.We performed prenatal genetic diagnosis for the fetus.The result of Sanger sequencing for c.7235delinsGT(p.Thr2412fs)in SRCAP gene showed that the fetus did not carry the variant,so the fetus has been born successfully.The newborn does not show any similar symptom to the proband till one month.CONCLUSION This case confirms that the c.7235delinsGT(p.Thr2412fs)variant in the SRCAP gene is associated with FHS and expands the spectrum of SRCAP variants.展开更多
Objective:To translate,adapt,and validate the Indonesian version of the Prenatal Health Behavior Scale.Methods:This cross-sectional,cross-cultural adaptation study was conducted between September 2024 and October 2024...Objective:To translate,adapt,and validate the Indonesian version of the Prenatal Health Behavior Scale.Methods:This cross-sectional,cross-cultural adaptation study was conducted between September 2024 and October 2024 in Ngrambe and Sine,subdistricts in Ngawi,East Java,Indonesia.We selected participants using purposive convenience sampling and matched them with inclusion and exclusion criteria.We collected sociodemographic,Prenatal Health Behavior Scale,and anthropometrics(height,weight,body mass index,and middle-upper arm circumference)data.We analyzed the content validity using the content validity index and Gwet's chance-corrected Agreement Coefficient 2,face validity by pilot-testing on several pregnant women,and construct validity using exploratory factor analysis.We measured reliability using McDonald's omega coefficient.Results:We recruited 183 pregnant women in this study(median age 28 years).The item-content validity index(I-CVI)of all items was 1.00,with Gwet's chance-corrected Agreement Coefficient 2 was 0.945.The face validity resulted in a clear statement of all items.The exploratory factor analysis showed the two-factor model best suited to the questionnaire.Omega coefficients for the overall scale,health-impairing,and health-promoting domains were 0.696,0.507,and 0.678,respectively.Conclusions:The Indonesian version of the Prenatal Health Behavior Scale is a valid and reliable instrument to assess prenatal health behavior in Indonesian-speaking pregnant women.Future studies may implement this scale in community and clinical settings.展开更多
BACKGROUND Carriers of chromosomal balanced translocations are often physically healthy with no obvious developmental problems.However,potential chromosomal imbalance in their gametes can lead to implantation failure,...BACKGROUND Carriers of chromosomal balanced translocations are often physically healthy with no obvious developmental problems.However,potential chromosomal imbalance in their gametes can lead to implantation failure,miscarriage,or the birth of a child with a chromosomal abnormality.CASE SUMMARY We report six cases of chromosomal translocations involving three families,including the specific Robertson(Roche)translocation.Case 1:The karyotype of the proband was 46,XX,t(18;19)(q22;p12).Case 2:Interventional prenatal diagnosis at 18 weeks of gestation confirmed that the karyotype of the fetus was 46,XY,t(18;19)(q22;p12).Case 3:The karyotype of the proband was 46,XY,t(5;18)(p13;p11).Case 4:Interventional prenatal diagnosis at 14+6 weeks confirmed that the karyotype of the fetus was 46,XX,der(18)t(5;18)(p13;p11)pat.Case 5:The karyotype of the proband was 45,XY,der(14;22)(q10;q10).Case 6:Interventional prenatal diagnosis at 19+4 weeks confirmed that the karyotype of the fetus was 45,XX,rob(14;22)(q10;q10).CONCLUSION Carriers of chromosomal translocations have a high risk of adverse pregnancy outcomes,though they can still have normal offspring.This report on six cases of chromosomal translocations from three families could serve as a reference for future prenatal diagnosis of chromosomal translocations and decision-making on whether to continue the pregnancy.展开更多
Prenatal caffeine exposure(PCE)leads to intrauterine growth retardation and altered glucose homeostasis after birth,but the underlying mechanism remains unclear.This study aims to investigate the alteration of pancrea...Prenatal caffeine exposure(PCE)leads to intrauterine growth retardation and altered glucose homeostasis after birth,but the underlying mechanism remains unclear.This study aims to investigate the alteration of pancreatic development and insulin biosynthesis in the PCE female offspring and explore the intrauterine programming mechanism.Pregnant rats were orally treated with 120 mg/(kg·day)of caffeine from gestational day(GD)9 to 20.Results showed that fetal pancreaticβ-cells in the PCE group exhibited reduced mass and impaired insulin synthesis function,as evidenced by decreased expression of developmental and functional genes and reduced pancreatic insulin content.At postnatal week(PW)12,the PCE offspring exhibited glucose intolerance,diminishedβ-cell mass,and lower blood insulin levels.However,by PW28,glucose tolerance showed some improvement.Both in vivo and in vitro findings collectively indicated that excessive serum corticosterone(CORT)levels of the PCE fetuses may act through the activation of the pancreatic glucocorticoid receptor(GR)and recruitment of histone deacetylase 9(HDAC9),leading to H3K9 deacetylation in promoter and downregulation of insulin-like growth factor 1(IGF1),thereby inhibiting pancreatic islet morphogenesis and insulin synthesis in fetal rats.Furthermore,the PCE offspring after birth exhibited decreased blood CORT levels,increased H3K9 acetylation in promoter and upregulated gene expression of the pancreatic IGF1 promoter region,accompanied by elevated insulin biosynthesis.However,when exposed to chronic stress,the above changes were totally reversed.Conclusively,“glucocorticoid-insulin like growth factor 1(GC-IGF1)axis”programming may be involved in pancreaticβ-cell dysplasia and dysfunction in the PCE female offspring.展开更多
Objective:To analyze the clinical value of non-invasive prenatal testing(NIPT)in detecting chromosomal copy number variations(CNVs)and to explore the relationship between gene expression and clinical manifestations of...Objective:To analyze the clinical value of non-invasive prenatal testing(NIPT)in detecting chromosomal copy number variations(CNVs)and to explore the relationship between gene expression and clinical manifestations of chromosomal copy number variations.Methods:3551 naturally conceived singleton pregnant women who underwent NIPT were included in this study.The NIPT revealed abnormalities other than sex chromosome abnormalities and trisomy 13,18,and 21.Pregnant women with chromosome copy number variations underwent genetic counseling and prenatal ultrasound examination.Interventional prenatal diagnosis and chromosome microarray analysis(CMA)were performed.The clinical phenotypes and pregnancy outcomes of different prenatal diagnoses were analyzed.Additionally,a follow-up was conducted by telephone to track fetal development after birth,at six months,and one year post-birth.Results:A total of 53 cases among 3551 cases showed chromosomal copy number variation.Interventional prenatal diagnosis was performed in 36 cases:27 cases were negative and 8 were consistent with the NIPT test results.This indicates that NIPT’s positive predictive value(PPV)in CNVs is 22.22%.Conclusion:NIPT has certain clinical significance in screening chromosome copy number variations and is expected to become a routine screening for chromosomal microdeletions and microduplications.However,further interventional prenatal diagnosis is still needed to identify fetal CNVs.展开更多
BACKGROUND The clinical manifestations of trisomy 7 mosaicism are diverse and nonspecific,so prenatal diagnosis is very difficult.CASE SUMMARY Two pregnant women with abnormal prenatal screening results were included....BACKGROUND The clinical manifestations of trisomy 7 mosaicism are diverse and nonspecific,so prenatal diagnosis is very difficult.CASE SUMMARY Two pregnant women with abnormal prenatal screening results were included.One was a 22-year-old woman(G1P0).At 31st week of gestation,ultrasound revealed that the posterior horn of the left lateral ventricle was 10 mm and the right renal pelvis had a separation of 7 mm.The other pregnant woman was 33 years old(G2P1L1A0),and her fetus was found to have a cardiac malformation at the 24th week of gestation.Copy number variation sequencing,whole-exome sequencing and karyotype analysis were carried out after amniocentesis,and both fetuses were diagnosed with trisomy 7 mosaicism.After parental counseling,one woman continued the pregnancy,and the other woman terminated the pregnancy.CONCLUSION In trisomy 7 mosaicism,the low proportion of trisomy does not lead to abortion,but can result in abnormal fetal development,which can be detected via ultrasound.Therefore,clinicians need to pay more attention to various aspects of fetal growth and development,combining with imaging,cellular,molecular genetics and other methods to perform comprehensive evaluations of fetuses to provide more reliable genetic counseling for pregnant women.展开更多
Amoxicillin,a widely used antibiotic in human and veterinary pharmaceuticals,is now considered as an“emerging contaminant”because it exists widespreadly in the environment and brings a series of adverse outcomes.Cur...Amoxicillin,a widely used antibiotic in human and veterinary pharmaceuticals,is now considered as an“emerging contaminant”because it exists widespreadly in the environment and brings a series of adverse outcomes.Currently,systematic studies about the developmental toxicity of amoxicillin are still lacking.We explored the potential effects of amoxicillin exposure on pregnancy outcomes,maternal/fetal serum phenotypes,and fetal multiple organ development in mice,at different doses(75,150,300 mg/(kg·day))during late-pregnancy,or at a dose of 300 mg/(kg·day)during different stages(mid-/latepregnancy)and courses(single-/multi-course).Results showed that prenatal amoxicillin exposure(PAmE)had no significant infuence on the body weights of dams,but it could inhibit the physical development and reduce the survival rate of fetuses,especially during the midpregnancy.Meanwhile,PAmE altered multiple maternal/fetal serum phenotypes,especially in fetuses.Fetal multi-organ function results showed that PAmE inhibited testicular/adrenal steroid synthesis,long bone/cartilage and hippocampal development,and enhanced ovarian steroid synthesis and hepatic glycogenesis/lipogenesis,and the order of severity might be gonad(testis,ovary)>liver>others.Further analysis found that PAmE-induced multiorgan developmental and functional alterations had differences in stages,courses and fetal gender,and the most obvious changes might be in high-dose,late-pregnancy and multicourse,but there was no typical rule of a dose-response relationship.In conclusion,this study confirmed that PAmE could cause abnormal development and multi-organ function alterations,which deepens our understanding of the risk of PAmE and provides an experimental basis for further exploration of the long-term harm.展开更多
Prednisone is a synthetic glucocorticoid that is commonly used in both human and veterinary medication.Now,it is also recognized as an emerging environmental contaminant.Pregnantwomenmay be exposed to prednisone activ...Prednisone is a synthetic glucocorticoid that is commonly used in both human and veterinary medication.Now,it is also recognized as an emerging environmental contaminant.Pregnantwomenmay be exposed to prednisone actively or passively throughmultiple pathways and cause developmental toxicity to the fetus.However,the impact of prenatal prednisone exposure(PPE)on fetal kidney development remains unclear.In this study,pregnant mice were administered prednisone intragastrically during full-term pregnancy with different doses(0.25,0.5,or 1 mg/(kg·day)),or at the dose of 1 mg/(kg·day)in different gestational days(GD)(GD0-9,GD10-18,or GD0-18).The pregnant mice were euthanized on GD18.HE staining revealed fetal kidney dysplasia,with an enlarged glomerular Bowman’s capsule space and a reduced capillary network in the PPE groups.The expression of the podocyte and the mesangial cell marker genes was significantly reduced in the PPE groups.However,overall gene expression in renal tubules and collecting ducts were markedly increased.All of the above effects were more pronounced in high-dose,full-term pregnancy,and female fetuses.Studies on the mechanism of the female fetal kidney have revealed that PPE reduced the expression of Six2,increased the expression of Hnf1β,Hnf4α,and Wnt9b,and inhibited the expression of glial cell line-derived neurotrophic factor(GDNF)and Notch signaling pathways.In conclusion,this study demonstrated that there is a sex difference in the developmental toxicity of PPE to the fetal kidney,and the time effect is manifested as full-term pregnancy>early pregnancy>mid-late pregnancy.展开更多
Objective To explore prenatal ultrasonic characteristics of fetal Currarino syndrome(CS)and methods for prenatal diagnosis of CS.Methods Two fetuses with CS confirmed by genetic examination were retrospectively analyz...Objective To explore prenatal ultrasonic characteristics of fetal Currarino syndrome(CS)and methods for prenatal diagnosis of CS.Methods Two fetuses with CS confirmed by genetic examination were retrospectively analyzed,while 6 CS fetuses with complete prenatal ultrasonic data in literature were reviewed.Prenatal ultrasonic characteristics of CS fetuses and the method for prenatal diagnosis of CS were discussed.Results Among 8 CS fetuses diagnosed with prenatal ultrasound,4 were female singletons with a clear family history of CS,and MNX 1 gene mutation was found in 1 fetus.The other 4 fetuses were 2 pairs of male monochorionic twins,all with MNX 1 gene mutation.Among 8 CS fetuses,complete triad(sacral agenesis abnormalities,anorectal malformation and presacral mass)were displayed only in 2 fetuses,while all 8 had sacral agenesis abnormalities and 6(6/8,75.00%)were detected with prenatal ultrasound,6 had low location of conus medullaris and 2(2/6,33.33%)detected with prenatal ultrasound.Conclusion Prenatal ultrasound was the first choice for non-invasive diagnosis of fetal CS.When one of sacral agenesis abnormalities,anorectal malformation and presacral mass was found with prenatal ultrasound,the possibility of CS should be considered,and fetal MRI,genetic examination and prenatal genetic counselling should be recommended if necessary.展开更多
Congenital ventricular aneurysm is a very rare cardiac anomaly.A diagnosis can be made during the prenatal period using fetal echocardiography.This study presents a very rare apically located left ventricular aneurysm...Congenital ventricular aneurysm is a very rare cardiac anomaly.A diagnosis can be made during the prenatal period using fetal echocardiography.This study presents a very rare apically located left ventricular aneurysm case,and the relevant literature was reviewed and discussed.In this case,a 35-year-old,gravida 2,parity 1 preg-nant woman at 24 weeks of gestation,displayed a wide aneurysmal image in the left ventricular apical wall on fetal echocardiography.There was a 1.79 mm muscular ventricular septal defect at the apical region of the interven-tricular septum.In the course of the color Doppler ultrasonography examination,an aberrantfibrous band within the left ventricle and consequent turbulentflow during systole were observed.The baby,born via cesarean section at 37 weeks of gestation,is now in its postnatal seventh month.However,during echocardiographic follow-ups,changes have been observed,including mild to moderate mitral insufficiency and a decrease in systolic function.Despite thesefindings,the clinical condition remains asymptomatic.It is of great importance to use a multidis-ciplinary approach in managing these rare cases that could lead to potential adverse outcomes during the antena-tal or postnatal periods.展开更多
BACKGROUND Ileal atresia is a congenital abnormality where there is significant stenosis or complete absence of a portion of the ileum.The overall diagnostic accuracy of prenatal ultrasound in detecting jejunal and il...BACKGROUND Ileal atresia is a congenital abnormality where there is significant stenosis or complete absence of a portion of the ileum.The overall diagnostic accuracy of prenatal ultrasound in detecting jejunal and ileal atresia is low.We report a case of ileal atresia diagnosed prenatally by ultrasound examination with the“keyboard sign”and“coffee bean sign”.CASE SUMMARY We report a case of ileal atresia diagnosed in utero at 31 weeks'of gestation.Prenatal ultrasound examination revealed two rows of intestines arranged in an‘S’shape in the middle abdomen.The inner diameters were 1.7 cm and 1.6 cm,respectively.A typical“keyboard sign”was observed.The intestine canal behind the“keyboard sign”showed an irregular strong echo.There was no normal intestinal wall structure,showing a typical“coffee bean sign”.Termination of the pregnancy and autopsy findings confirmed the diagnosis.CONCLUSION The prenatal diagnosis of ileal atresia is difficult.The sonographic features of the“keyboard sign”and“coffee bean sign”are helpful in diagnosing the location of congenital jejunal and ileal atresia.展开更多
BACKGROUND Facial teratoma is a rare benign tumor that accounts for about 1.6%of all teratomas and can be diagnosed by prenatal ultrasound(US).The purpose of this report was to describe our experience with the diagnos...BACKGROUND Facial teratoma is a rare benign tumor that accounts for about 1.6%of all teratomas and can be diagnosed by prenatal ultrasound(US).The purpose of this report was to describe our experience with the diagnosis of fetal facial teratoma by prenatal US at second trimester to provide a reference for clinical diagnosis of fetal maxillofacial teratoma.CASE SUMMARY We present two cases of patients with abnormal fetal facial findings on US at second trimester of pregnancy in our department.Case 1 was a 31-year-old G3 P1+1 female,with US revealing a heterogeneous echogenicity of 32 mm×20 mm×31 mm on the fetal face,most of it located outside the oral cavity and filling the root of the oral cavity.Case 2 was a 29-year-old G1P0 female,with fetal head and neck US revealing a cystic-solid echo mass measuring 42 mm×33 mm×44 mm,the upper edge of the lesion reaching the palate and filling the oral cavity.The contours of the lesions were visualized using three-dimensional(3D)US imaging.Both patients decided to give up treatment.Biopsies of the lesions were performed after induction of labor,and diagnosed as maxillofacial teratoma.CONCLUSION Fetal maxillofacial teratomas can be diagnosed by US in early pregnancy,allowing parents to expedite treatment decisions.展开更多
Background: Prenatal diagnosis is the process of evaluating the presence of disease or potential disease in the fetus, this enables families to be better prepared before the birth of the baby. There are non-invasive p...Background: Prenatal diagnosis is the process of evaluating the presence of disease or potential disease in the fetus, this enables families to be better prepared before the birth of the baby. There are non-invasive prenatal diagnosis procedures and invasive prenatal diagnosis procedures. The invasive prenatal diagnosis procedures are CVS (chorionic villus sampling) and amniocentesis. The American College of Obstetricians and Gynecologists states that invasive diagnostic testing should be available to all women, regardless of age or risk. Objective: To determine the indications, outcome and results of diagnostic invasive prenatal procedures. Study setting: The obstetrics and Gynecology Department in Salmaniya Medical Complex in Kingdom of Bahrain. Study design: Retrospective descriptive study. Study subjects and Methods: This retrospective descriptive study was conducted on 175 pregnant women who underwent invasive prenatal procedures (CVS and amniocentesis) between January 2013 and December 2018 at SMC in Kingdom of Bahrain. All medical records of the participants were reviewed and entered the study. According to the implemented procedures, medical records were categorized into two chorionic villus sampling (CVS) and amniocentesis groups. The study subject will include indications of the procedures which are advanced maternal age, hematological disorders, genetic disorders, metabolic disorders, abnormal structural findings in fetal ultrasound and previous child with aneuploidy. In addition, the study will address the complications, outcome and results of procedures. Results: About half of our indications of the procedures were due to hematological disorders (47.6%) followed by abnormal structural findings in fetal ultrasound (30.1%) then genetic disorders (15.7%), metabolic disorders (4.8%) and advanced maternal age (1.8%). Regarding complications of the procedure;threatened miscarriage or loss of pregnancy within 3 weeks was (2.3%), amniotic fluid leakage (0.7%), abdominal cramps (0.7%) and Insufficient or contaminated sample (6.2%). Regarding outcome of the pregnancy, our results showed that the loss of pregnancy was (4.8%), intrauterine fetal death or still birth was (13.9%), live birth was (63.9%), preterm delivery was (7.8%), preterm premature rupture of membrane (PPROM) was (1.8%), limbs reduction was (0.0%). Termination of pregnancy outside the country was (7.8%) of chorionic villus sampling and amniocentesis. Conclusion: CVS and amniocentesis are useful outpatient procedures to detect diagnosis or to assess whether a patient is at increased risk of having an affected fetus and that will minimize the psychological impact on the patient and to provide a proper antenatal care to the pregnant women by her obstetrician and follow up to the baby by pediatrician. In this study it was observed that most of the patients who underwent the procedure were couples either carrier or affected to sickle cell disease or Beta thalassemia.展开更多
The development of competency-based thinking is transforming medical education by preparing professionals for the new challenges of the 21st century. Its strategies are key to the development of clinical competence an...The development of competency-based thinking is transforming medical education by preparing professionals for the new challenges of the 21st century. Its strategies are key to the development of clinical competence and to improving critical thinking. Objective: This paper aims to evaluate the level of clinical competence of family medicine residents treating patients attending prenatal care in a medical unit in southern Mexico. Materials and Methods: In 2023, a cross-sectional, retrospective, and analytical study with an educational focus was conducted in two phases. The creation and validation of a clinical competence instrument based on five real real-world problem-based clinical cases of prenatal care patients, with indicators related to clinical aptitude. Three rounds of experts were used to validate the instrument following the Delphi method, with a concordance threshold of 80% or higher (Kappa index > 0.80). The Kuder-Richardson formula was used to calculate internal consistency, yielding a value of 0.87. The evaluation instrument was administered to 40 newly admitted medical residents in the second phase in Villahermosa, Tabasco. A descriptive analysis was performed, and the levels of competence were compared using the Chi-square test. Results: Internal consistency was 0.87. Among the residents, 32.5% demonstrated low knowledge levels (know-what), 37.5% showed intermediate skills levels (know-how), and 67.5% exhibited adequate performance in attitudes (know-be). Conclusions: Inclusive strategies are necessary to improve clinical competence levels in prenatal care.展开更多
Objective:To explore the positive significance of using prenatal B-ultrasound in diagnosing fetal abnormalities.Methods:A total of 200 pregnant women who visited Shaanxi Provincial People’s Hospital between January 2...Objective:To explore the positive significance of using prenatal B-ultrasound in diagnosing fetal abnormalities.Methods:A total of 200 pregnant women who visited Shaanxi Provincial People’s Hospital between January 2023 and January 2024 were recruited as the research subjects.All pregnant women received prenatal examinations.A retrospective analysis was carried out to analyze the positive significance of prenatal B-ultrasound examination in the diagnosis of fetal abnormalities.Results:Prenatal B-ultrasound examination detected 10 cases of fetal abnormalities,with a detection rate of 5.00%.When compared with the postnatal examination results of 5.50%,the difference was insignificant(P>0.05).Moreover,comparing the fetal limb abnormalities and cardiovascular abnormalities in prenatal B-ultrasound examination and postnatal examination,one case of congenital heart disease was missed in the prenatal B-ultrasound examination,and the others were consistent with the postnatal examination results,with a coincidence rate of 90.91%,indicating a high compliance rate.Conclusion:Fetal abnormalities have a great impact on mothers,babies,and families,and it is particularly important to strengthen diagnosis during this process.Prenatal B-ultrasound examination can improve the accuracy of diagnosis of fetal abnormalities and can be promoted in clinical practice as a basis for screening fetal abnormalities.展开更多
文摘BACKGROUND Perinatal depression affects 10%-20%of pregnant women and subsequently influences maternal health and fetal development.Concerns over the safety of antidepressants during pregnancy have prompted the exploration of nutritional interventions as adjunct therapies.This study evaluated the impact of combining preconception and prenatal supplementation with myo-inositol,probiotics,and trace elements on mood,quality of life,and fetal development in depressed mothers.This retrospective cohort study included 314 pregnant women who were diag-nosed with mild to moderate depression,as determined by a Zung self-rating depression scale score of less than 69.The participants were divided into an intervention group(n=161)receiving myo-inositol,probiotics,and trace elements and a control group(n=153)without supplementation.Supplementation comm-enced 3 months before conception and continued through pregnancy.Psychiatric symptoms and quality of life were evaluated using the positive and negative affect schedule-now,state-trait anxiety inventory,Patient Health Ques-tionnaire-8,and World Health Organization Quality of life Assessment:Brief Version scales preconception and postpartum.Fetal development metrics were assessed via ultrasound,and neonatal outcomes were recorded.RESULTS The intervention group presented significant reductions in gestational diabetes mellitus(13.04%vs 23.53%,P=0.016)and gestational hypertension(3.73%vs 9.15%,P=0.049).Higher levels of inositol,iron,zinc,and probiotics were observed near term in the intervention group.Postpartum mood assessments indicated lower anxiety and depression scores for the intervention group,with significant improvements in the positive and negative affect schedule-now(P=0.002),trait anxiety(P=0.002),and Patient Health Questionnaire-8(P=0.018)scores.The World Health Organization Quality of life Assessment:Brief Version scores improved in the psychological(P=0.041)and environmental(P=0.009)domains postpartum.Fetal biparietal diameter and femoral length were greater in the intervention group alongside better neonatal body length and reduced neonatal unit admissions(2.48%vs 7.84%,P=0.031).CONCLUSION Combined supplementation with myo-inositol,probiotics,and trace elements from preconception through pregnancy may reduce pregnancy-related complications,enhance mood and quality of life,and improve fetal growth metrics.
基金supported by the Natural Science Foundation of Zhejiang Province(Grant number:LGF22H040003).
文摘A 28-year-old pregnant woman with no prior obstetric complications had a normal prenatal workup before 24 weeks'gestation.At 24 weeks,ultrasound revealed gastrointestinal malformations,a persistent left superior vena cava,and polyhydramnios.
基金Supported by Science and Technology Development Plan Project of Weifang,No.2023YX005。
文摘BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,and short stature.Approximately 60%-70%of patients with CCD have mutations in the RUNX family transcription factor 2 gene.However,prenatal diagnosis of CCD is difficult when the family history is unknown.CASE SUMMARY We report a rare case of fetal CCD with an unknown family history,confirmed by prenatal ultrasonography and genetic testing at a gestational age of 16 weeks.The genetic reports indicated that the fetus carried pathogenic mutations in the RUNX family transcription factor 2 gene(c.674G>A).After careful consideration,the pregnant woman and her family decided to continue the pregnancy.CONCLUSION Definitive prenatal diagnosis of CCD should include family history,ultrasound diagnosis,and genetic analysis,especially if family history is unknown.
文摘Purpose:Derivative chromosomes,resulting from complex structural rearrangements,pose significant challenges in prenatal diagnosis due to their unpredictable inheritance patterns and potential phenotypic consequences.This study evaluates the efficacy of multiple genetic technologies-including karyotyping,fluorescence in situ hybridization(FISH),chromosomal microarray analysis(CMA),and next-generation sequencing(NGS)-in detecting and characterizing derivative chromosomes in prenatal samples.methodology:We analyzed 150 cases of suspected chromosomal abnormalities,comparing detection rates,resolution,and clinical utility across these methods.Results:Our findings demonstrate that integrated multi-technology approaches significantly improve diagnostic accuracy,with NGS-based structural variation analysis achieving the highest detection sensitivity(99.2%)for cryptic rearrangements.Conclusions:Additionally,long-read sequencing(PacBio/Oxford Nanopore)enabled precise breakpoint mapping in 92%of cases,facilitating more accurate genetic counseling.Clinically,this approach enhances risk assessment for fetal anomalies,guides pregnancy management,and improves parental counseling for recurrence risks.
文摘Introduction Aortic arch anomalies are congenital malformations of the position or branching of the aortic arch,or both.Double aortic arch(DAA)is a very rare malformation,affecting approximately 0.005%~0.007% of fetuses[1],and there has been no relevant literature mentioning the prenatal finding DAA in Macao till now.
基金Supported by National Key Research and Development Program of China,No.2022YFC2703302.
文摘BACKGROUND Floating-harbor syndrome(FHS)is a rare genetic disorder caused by pathogenic variants in the SRCAP gene.Most individuals with FHS have short stature,delayed speech and language development,and dysmorphic facial features.However,the patients with FHS are not easy to diagnose due to the overlap of clinical phenotypes with other disorders.CASE SUMMARY We reported a 10-year-old boy who presented with severe short stature,developmental delay and distinctive facial features.Exome sequencing was provided for the proband and his parents.We identified a novel frameshift variant c.7235delinsGT(p.Thr2412fs)in SRCAP gene,and the variant was further validated by Sanger sequencing.The mother of the proband was referred to us for prenatal consultation during next pregnancy.We performed prenatal genetic diagnosis for the fetus.The result of Sanger sequencing for c.7235delinsGT(p.Thr2412fs)in SRCAP gene showed that the fetus did not carry the variant,so the fetus has been born successfully.The newborn does not show any similar symptom to the proband till one month.CONCLUSION This case confirms that the c.7235delinsGT(p.Thr2412fs)variant in the SRCAP gene is associated with FHS and expands the spectrum of SRCAP variants.
文摘Objective:To translate,adapt,and validate the Indonesian version of the Prenatal Health Behavior Scale.Methods:This cross-sectional,cross-cultural adaptation study was conducted between September 2024 and October 2024 in Ngrambe and Sine,subdistricts in Ngawi,East Java,Indonesia.We selected participants using purposive convenience sampling and matched them with inclusion and exclusion criteria.We collected sociodemographic,Prenatal Health Behavior Scale,and anthropometrics(height,weight,body mass index,and middle-upper arm circumference)data.We analyzed the content validity using the content validity index and Gwet's chance-corrected Agreement Coefficient 2,face validity by pilot-testing on several pregnant women,and construct validity using exploratory factor analysis.We measured reliability using McDonald's omega coefficient.Results:We recruited 183 pregnant women in this study(median age 28 years).The item-content validity index(I-CVI)of all items was 1.00,with Gwet's chance-corrected Agreement Coefficient 2 was 0.945.The face validity resulted in a clear statement of all items.The exploratory factor analysis showed the two-factor model best suited to the questionnaire.Omega coefficients for the overall scale,health-impairing,and health-promoting domains were 0.696,0.507,and 0.678,respectively.Conclusions:The Indonesian version of the Prenatal Health Behavior Scale is a valid and reliable instrument to assess prenatal health behavior in Indonesian-speaking pregnant women.Future studies may implement this scale in community and clinical settings.
基金Supported by The Science and Technology Department of Jilin Province,China,No.YDZJ202301ZYTS002The Jilin Province Medical and Health Talents Project,No.2019SRCJ010.
文摘BACKGROUND Carriers of chromosomal balanced translocations are often physically healthy with no obvious developmental problems.However,potential chromosomal imbalance in their gametes can lead to implantation failure,miscarriage,or the birth of a child with a chromosomal abnormality.CASE SUMMARY We report six cases of chromosomal translocations involving three families,including the specific Robertson(Roche)translocation.Case 1:The karyotype of the proband was 46,XX,t(18;19)(q22;p12).Case 2:Interventional prenatal diagnosis at 18 weeks of gestation confirmed that the karyotype of the fetus was 46,XY,t(18;19)(q22;p12).Case 3:The karyotype of the proband was 46,XY,t(5;18)(p13;p11).Case 4:Interventional prenatal diagnosis at 14+6 weeks confirmed that the karyotype of the fetus was 46,XX,der(18)t(5;18)(p13;p11)pat.Case 5:The karyotype of the proband was 45,XY,der(14;22)(q10;q10).Case 6:Interventional prenatal diagnosis at 19+4 weeks confirmed that the karyotype of the fetus was 45,XX,rob(14;22)(q10;q10).CONCLUSION Carriers of chromosomal translocations have a high risk of adverse pregnancy outcomes,though they can still have normal offspring.This report on six cases of chromosomal translocations from three families could serve as a reference for future prenatal diagnosis of chromosomal translocations and decision-making on whether to continue the pregnancy.
基金supported by grants from the National Key Research and Development Program of China(2020YFA0803900)the National Natural Science Foundation of China(U23A20407,82414020,81703631)the Hubei Provincial Natural Science Foundation of China(2024AFB742)。
文摘Prenatal caffeine exposure(PCE)leads to intrauterine growth retardation and altered glucose homeostasis after birth,but the underlying mechanism remains unclear.This study aims to investigate the alteration of pancreatic development and insulin biosynthesis in the PCE female offspring and explore the intrauterine programming mechanism.Pregnant rats were orally treated with 120 mg/(kg·day)of caffeine from gestational day(GD)9 to 20.Results showed that fetal pancreaticβ-cells in the PCE group exhibited reduced mass and impaired insulin synthesis function,as evidenced by decreased expression of developmental and functional genes and reduced pancreatic insulin content.At postnatal week(PW)12,the PCE offspring exhibited glucose intolerance,diminishedβ-cell mass,and lower blood insulin levels.However,by PW28,glucose tolerance showed some improvement.Both in vivo and in vitro findings collectively indicated that excessive serum corticosterone(CORT)levels of the PCE fetuses may act through the activation of the pancreatic glucocorticoid receptor(GR)and recruitment of histone deacetylase 9(HDAC9),leading to H3K9 deacetylation in promoter and downregulation of insulin-like growth factor 1(IGF1),thereby inhibiting pancreatic islet morphogenesis and insulin synthesis in fetal rats.Furthermore,the PCE offspring after birth exhibited decreased blood CORT levels,increased H3K9 acetylation in promoter and upregulated gene expression of the pancreatic IGF1 promoter region,accompanied by elevated insulin biosynthesis.However,when exposed to chronic stress,the above changes were totally reversed.Conclusively,“glucocorticoid-insulin like growth factor 1(GC-IGF1)axis”programming may be involved in pancreaticβ-cell dysplasia and dysfunction in the PCE female offspring.
基金Dongguan City Social Development Project(Project number:20161081101023)。
文摘Objective:To analyze the clinical value of non-invasive prenatal testing(NIPT)in detecting chromosomal copy number variations(CNVs)and to explore the relationship between gene expression and clinical manifestations of chromosomal copy number variations.Methods:3551 naturally conceived singleton pregnant women who underwent NIPT were included in this study.The NIPT revealed abnormalities other than sex chromosome abnormalities and trisomy 13,18,and 21.Pregnant women with chromosome copy number variations underwent genetic counseling and prenatal ultrasound examination.Interventional prenatal diagnosis and chromosome microarray analysis(CMA)were performed.The clinical phenotypes and pregnancy outcomes of different prenatal diagnoses were analyzed.Additionally,a follow-up was conducted by telephone to track fetal development after birth,at six months,and one year post-birth.Results:A total of 53 cases among 3551 cases showed chromosomal copy number variation.Interventional prenatal diagnosis was performed in 36 cases:27 cases were negative and 8 were consistent with the NIPT test results.This indicates that NIPT’s positive predictive value(PPV)in CNVs is 22.22%.Conclusion:NIPT has certain clinical significance in screening chromosome copy number variations and is expected to become a routine screening for chromosomal microdeletions and microduplications.However,further interventional prenatal diagnosis is still needed to identify fetal CNVs.
文摘BACKGROUND The clinical manifestations of trisomy 7 mosaicism are diverse and nonspecific,so prenatal diagnosis is very difficult.CASE SUMMARY Two pregnant women with abnormal prenatal screening results were included.One was a 22-year-old woman(G1P0).At 31st week of gestation,ultrasound revealed that the posterior horn of the left lateral ventricle was 10 mm and the right renal pelvis had a separation of 7 mm.The other pregnant woman was 33 years old(G2P1L1A0),and her fetus was found to have a cardiac malformation at the 24th week of gestation.Copy number variation sequencing,whole-exome sequencing and karyotype analysis were carried out after amniocentesis,and both fetuses were diagnosed with trisomy 7 mosaicism.After parental counseling,one woman continued the pregnancy,and the other woman terminated the pregnancy.CONCLUSION In trisomy 7 mosaicism,the low proportion of trisomy does not lead to abortion,but can result in abnormal fetal development,which can be detected via ultrasound.Therefore,clinicians need to pay more attention to various aspects of fetal growth and development,combining with imaging,cellular,molecular genetics and other methods to perform comprehensive evaluations of fetuses to provide more reliable genetic counseling for pregnant women.
基金supported by the National Key Research and Development Program of China (No.2020YFA0803900)。
文摘Amoxicillin,a widely used antibiotic in human and veterinary pharmaceuticals,is now considered as an“emerging contaminant”because it exists widespreadly in the environment and brings a series of adverse outcomes.Currently,systematic studies about the developmental toxicity of amoxicillin are still lacking.We explored the potential effects of amoxicillin exposure on pregnancy outcomes,maternal/fetal serum phenotypes,and fetal multiple organ development in mice,at different doses(75,150,300 mg/(kg·day))during late-pregnancy,or at a dose of 300 mg/(kg·day)during different stages(mid-/latepregnancy)and courses(single-/multi-course).Results showed that prenatal amoxicillin exposure(PAmE)had no significant infuence on the body weights of dams,but it could inhibit the physical development and reduce the survival rate of fetuses,especially during the midpregnancy.Meanwhile,PAmE altered multiple maternal/fetal serum phenotypes,especially in fetuses.Fetal multi-organ function results showed that PAmE inhibited testicular/adrenal steroid synthesis,long bone/cartilage and hippocampal development,and enhanced ovarian steroid synthesis and hepatic glycogenesis/lipogenesis,and the order of severity might be gonad(testis,ovary)>liver>others.Further analysis found that PAmE-induced multiorgan developmental and functional alterations had differences in stages,courses and fetal gender,and the most obvious changes might be in high-dose,late-pregnancy and multicourse,but there was no typical rule of a dose-response relationship.In conclusion,this study confirmed that PAmE could cause abnormal development and multi-organ function alterations,which deepens our understanding of the risk of PAmE and provides an experimental basis for further exploration of the long-term harm.
基金supported by the National Key Research and Development Program of China(No.2020YFA0803900)the National Natural Science Foundation of China(No.81872943)。
文摘Prednisone is a synthetic glucocorticoid that is commonly used in both human and veterinary medication.Now,it is also recognized as an emerging environmental contaminant.Pregnantwomenmay be exposed to prednisone actively or passively throughmultiple pathways and cause developmental toxicity to the fetus.However,the impact of prenatal prednisone exposure(PPE)on fetal kidney development remains unclear.In this study,pregnant mice were administered prednisone intragastrically during full-term pregnancy with different doses(0.25,0.5,or 1 mg/(kg·day)),or at the dose of 1 mg/(kg·day)in different gestational days(GD)(GD0-9,GD10-18,or GD0-18).The pregnant mice were euthanized on GD18.HE staining revealed fetal kidney dysplasia,with an enlarged glomerular Bowman’s capsule space and a reduced capillary network in the PPE groups.The expression of the podocyte and the mesangial cell marker genes was significantly reduced in the PPE groups.However,overall gene expression in renal tubules and collecting ducts were markedly increased.All of the above effects were more pronounced in high-dose,full-term pregnancy,and female fetuses.Studies on the mechanism of the female fetal kidney have revealed that PPE reduced the expression of Six2,increased the expression of Hnf1β,Hnf4α,and Wnt9b,and inhibited the expression of glial cell line-derived neurotrophic factor(GDNF)and Notch signaling pathways.In conclusion,this study demonstrated that there is a sex difference in the developmental toxicity of PPE to the fetal kidney,and the time effect is manifested as full-term pregnancy>early pregnancy>mid-late pregnancy.
文摘Objective To explore prenatal ultrasonic characteristics of fetal Currarino syndrome(CS)and methods for prenatal diagnosis of CS.Methods Two fetuses with CS confirmed by genetic examination were retrospectively analyzed,while 6 CS fetuses with complete prenatal ultrasonic data in literature were reviewed.Prenatal ultrasonic characteristics of CS fetuses and the method for prenatal diagnosis of CS were discussed.Results Among 8 CS fetuses diagnosed with prenatal ultrasound,4 were female singletons with a clear family history of CS,and MNX 1 gene mutation was found in 1 fetus.The other 4 fetuses were 2 pairs of male monochorionic twins,all with MNX 1 gene mutation.Among 8 CS fetuses,complete triad(sacral agenesis abnormalities,anorectal malformation and presacral mass)were displayed only in 2 fetuses,while all 8 had sacral agenesis abnormalities and 6(6/8,75.00%)were detected with prenatal ultrasound,6 had low location of conus medullaris and 2(2/6,33.33%)detected with prenatal ultrasound.Conclusion Prenatal ultrasound was the first choice for non-invasive diagnosis of fetal CS.When one of sacral agenesis abnormalities,anorectal malformation and presacral mass was found with prenatal ultrasound,the possibility of CS should be considered,and fetal MRI,genetic examination and prenatal genetic counselling should be recommended if necessary.
文摘Congenital ventricular aneurysm is a very rare cardiac anomaly.A diagnosis can be made during the prenatal period using fetal echocardiography.This study presents a very rare apically located left ventricular aneurysm case,and the relevant literature was reviewed and discussed.In this case,a 35-year-old,gravida 2,parity 1 preg-nant woman at 24 weeks of gestation,displayed a wide aneurysmal image in the left ventricular apical wall on fetal echocardiography.There was a 1.79 mm muscular ventricular septal defect at the apical region of the interven-tricular septum.In the course of the color Doppler ultrasonography examination,an aberrantfibrous band within the left ventricle and consequent turbulentflow during systole were observed.The baby,born via cesarean section at 37 weeks of gestation,is now in its postnatal seventh month.However,during echocardiographic follow-ups,changes have been observed,including mild to moderate mitral insufficiency and a decrease in systolic function.Despite thesefindings,the clinical condition remains asymptomatic.It is of great importance to use a multidis-ciplinary approach in managing these rare cases that could lead to potential adverse outcomes during the antena-tal or postnatal periods.
文摘BACKGROUND Ileal atresia is a congenital abnormality where there is significant stenosis or complete absence of a portion of the ileum.The overall diagnostic accuracy of prenatal ultrasound in detecting jejunal and ileal atresia is low.We report a case of ileal atresia diagnosed prenatally by ultrasound examination with the“keyboard sign”and“coffee bean sign”.CASE SUMMARY We report a case of ileal atresia diagnosed in utero at 31 weeks'of gestation.Prenatal ultrasound examination revealed two rows of intestines arranged in an‘S’shape in the middle abdomen.The inner diameters were 1.7 cm and 1.6 cm,respectively.A typical“keyboard sign”was observed.The intestine canal behind the“keyboard sign”showed an irregular strong echo.There was no normal intestinal wall structure,showing a typical“coffee bean sign”.Termination of the pregnancy and autopsy findings confirmed the diagnosis.CONCLUSION The prenatal diagnosis of ileal atresia is difficult.The sonographic features of the“keyboard sign”and“coffee bean sign”are helpful in diagnosing the location of congenital jejunal and ileal atresia.
基金Supported by the Research Fund of the Anhui Medical University,No.2022xkj145.
文摘BACKGROUND Facial teratoma is a rare benign tumor that accounts for about 1.6%of all teratomas and can be diagnosed by prenatal ultrasound(US).The purpose of this report was to describe our experience with the diagnosis of fetal facial teratoma by prenatal US at second trimester to provide a reference for clinical diagnosis of fetal maxillofacial teratoma.CASE SUMMARY We present two cases of patients with abnormal fetal facial findings on US at second trimester of pregnancy in our department.Case 1 was a 31-year-old G3 P1+1 female,with US revealing a heterogeneous echogenicity of 32 mm×20 mm×31 mm on the fetal face,most of it located outside the oral cavity and filling the root of the oral cavity.Case 2 was a 29-year-old G1P0 female,with fetal head and neck US revealing a cystic-solid echo mass measuring 42 mm×33 mm×44 mm,the upper edge of the lesion reaching the palate and filling the oral cavity.The contours of the lesions were visualized using three-dimensional(3D)US imaging.Both patients decided to give up treatment.Biopsies of the lesions were performed after induction of labor,and diagnosed as maxillofacial teratoma.CONCLUSION Fetal maxillofacial teratomas can be diagnosed by US in early pregnancy,allowing parents to expedite treatment decisions.
文摘Background: Prenatal diagnosis is the process of evaluating the presence of disease or potential disease in the fetus, this enables families to be better prepared before the birth of the baby. There are non-invasive prenatal diagnosis procedures and invasive prenatal diagnosis procedures. The invasive prenatal diagnosis procedures are CVS (chorionic villus sampling) and amniocentesis. The American College of Obstetricians and Gynecologists states that invasive diagnostic testing should be available to all women, regardless of age or risk. Objective: To determine the indications, outcome and results of diagnostic invasive prenatal procedures. Study setting: The obstetrics and Gynecology Department in Salmaniya Medical Complex in Kingdom of Bahrain. Study design: Retrospective descriptive study. Study subjects and Methods: This retrospective descriptive study was conducted on 175 pregnant women who underwent invasive prenatal procedures (CVS and amniocentesis) between January 2013 and December 2018 at SMC in Kingdom of Bahrain. All medical records of the participants were reviewed and entered the study. According to the implemented procedures, medical records were categorized into two chorionic villus sampling (CVS) and amniocentesis groups. The study subject will include indications of the procedures which are advanced maternal age, hematological disorders, genetic disorders, metabolic disorders, abnormal structural findings in fetal ultrasound and previous child with aneuploidy. In addition, the study will address the complications, outcome and results of procedures. Results: About half of our indications of the procedures were due to hematological disorders (47.6%) followed by abnormal structural findings in fetal ultrasound (30.1%) then genetic disorders (15.7%), metabolic disorders (4.8%) and advanced maternal age (1.8%). Regarding complications of the procedure;threatened miscarriage or loss of pregnancy within 3 weeks was (2.3%), amniotic fluid leakage (0.7%), abdominal cramps (0.7%) and Insufficient or contaminated sample (6.2%). Regarding outcome of the pregnancy, our results showed that the loss of pregnancy was (4.8%), intrauterine fetal death or still birth was (13.9%), live birth was (63.9%), preterm delivery was (7.8%), preterm premature rupture of membrane (PPROM) was (1.8%), limbs reduction was (0.0%). Termination of pregnancy outside the country was (7.8%) of chorionic villus sampling and amniocentesis. Conclusion: CVS and amniocentesis are useful outpatient procedures to detect diagnosis or to assess whether a patient is at increased risk of having an affected fetus and that will minimize the psychological impact on the patient and to provide a proper antenatal care to the pregnant women by her obstetrician and follow up to the baby by pediatrician. In this study it was observed that most of the patients who underwent the procedure were couples either carrier or affected to sickle cell disease or Beta thalassemia.
文摘The development of competency-based thinking is transforming medical education by preparing professionals for the new challenges of the 21st century. Its strategies are key to the development of clinical competence and to improving critical thinking. Objective: This paper aims to evaluate the level of clinical competence of family medicine residents treating patients attending prenatal care in a medical unit in southern Mexico. Materials and Methods: In 2023, a cross-sectional, retrospective, and analytical study with an educational focus was conducted in two phases. The creation and validation of a clinical competence instrument based on five real real-world problem-based clinical cases of prenatal care patients, with indicators related to clinical aptitude. Three rounds of experts were used to validate the instrument following the Delphi method, with a concordance threshold of 80% or higher (Kappa index > 0.80). The Kuder-Richardson formula was used to calculate internal consistency, yielding a value of 0.87. The evaluation instrument was administered to 40 newly admitted medical residents in the second phase in Villahermosa, Tabasco. A descriptive analysis was performed, and the levels of competence were compared using the Chi-square test. Results: Internal consistency was 0.87. Among the residents, 32.5% demonstrated low knowledge levels (know-what), 37.5% showed intermediate skills levels (know-how), and 67.5% exhibited adequate performance in attitudes (know-be). Conclusions: Inclusive strategies are necessary to improve clinical competence levels in prenatal care.
文摘Objective:To explore the positive significance of using prenatal B-ultrasound in diagnosing fetal abnormalities.Methods:A total of 200 pregnant women who visited Shaanxi Provincial People’s Hospital between January 2023 and January 2024 were recruited as the research subjects.All pregnant women received prenatal examinations.A retrospective analysis was carried out to analyze the positive significance of prenatal B-ultrasound examination in the diagnosis of fetal abnormalities.Results:Prenatal B-ultrasound examination detected 10 cases of fetal abnormalities,with a detection rate of 5.00%.When compared with the postnatal examination results of 5.50%,the difference was insignificant(P>0.05).Moreover,comparing the fetal limb abnormalities and cardiovascular abnormalities in prenatal B-ultrasound examination and postnatal examination,one case of congenital heart disease was missed in the prenatal B-ultrasound examination,and the others were consistent with the postnatal examination results,with a coincidence rate of 90.91%,indicating a high compliance rate.Conclusion:Fetal abnormalities have a great impact on mothers,babies,and families,and it is particularly important to strengthen diagnosis during this process.Prenatal B-ultrasound examination can improve the accuracy of diagnosis of fetal abnormalities and can be promoted in clinical practice as a basis for screening fetal abnormalities.
