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
Objective: The purpose of this study was to evaluate health education using videos and leaflets for preconception care (PCC) awareness among adolescent females up to six months after the health education. Methods: The...Objective: The purpose of this study was to evaluate health education using videos and leaflets for preconception care (PCC) awareness among adolescent females up to six months after the health education. Methods: The subjects were female university students living in the Kinki area. A longitudinal survey was conducted on 67 members in the intervention group, who received the health education, and 52 members in the control group, who did not receive the health education. The primary outcome measures were knowledge of PCC and the subscales of the Health Promotion Lifestyle Profile. Surveys were conducted before, after, and six months after the intervention in the intervention group, and an initial survey and survey six months later were conducted in the control group. Cochran’s Q test, Bonferroni’s multiple comparison test, and McNemar’s test were used to analyze the knowledge of PCC data. The Health Awareness, Nutrition, and Stress Management subscales of the Health Promotion Lifestyle Profile were analyzed by paired t-test, and comparisons between the intervention and control groups were performed using the two-way repeated measures analysis of variance. Results: In the intervention group of 67 people, the number of subjects who answered “correct” for five of the nine items concerning knowledge of PCC increased immediately after the health education (P = 0.006) but decreased for five items from immediately after the health education to six months later (P = 0.043). In addition, the number of respondents who answered “correct” for “low birth weight infants and future lifestyle-related diseases” (P = 0.016) increased after six months compared with before the health education. For the 52 subjects in the control group, there was no change in the number of subjects who answered “correct” for eight out of the nine items after six months. There was also no increase in scores for the Health Promotion Lifestyle Profile after six months for either the intervention or control group. Conclusion: Providing health education about PCC using videos and leaflets to adolescent females was shown to enhance the knowledge of PCC immediately after the education.展开更多
Preterm birth(PTB),defined as delivery before 37 weeks of gestation,is the most common adverse pregnancy outcome[1].PTB is a global health concern,with an estimated 13.4 million cases in 2020[1],accounting for more th...Preterm birth(PTB),defined as delivery before 37 weeks of gestation,is the most common adverse pregnancy outcome[1].PTB is a global health concern,with an estimated 13.4 million cases in 2020[1],accounting for more than one in 10 births worldwide.Compared to full-term births,PTBs are associated with a higher risk of short-and long-term complications,including bronchopulmonary dysplasia,necrotizing enterocolitis,visual impairment,and cerebral injuries[2].Despite substantial research efforts to prevent PTB,the global PTB rate has shown little improvement over the past decade[1].Therefore,identifying additional risk factors remains a critical goal in preventing PTB.展开更多
Infertility,defined as the inability to achieve a clinical pregnancy after 1 year of unprotected and regular sexual intercourse,affects approximately 8%–12%of couples worldwide during their childbearing years.Assiste...Infertility,defined as the inability to achieve a clinical pregnancy after 1 year of unprotected and regular sexual intercourse,affects approximately 8%–12%of couples worldwide during their childbearing years.Assisted reproductive technology(ART)offers interventions to facilitate conception in couples with infertility.Since the inception of traditional in vitro fertilization(IVF)in 1978,ART has facilitated the birth of millions of infants.Intracytoplasmic sperm injection(ICSI)is an effective technique for couples ineligible for traditional IVF.Individual female factors,such as age and endometrial thickness,have been shown to affect embryo development during the IVF process,resulting in unfavorable pregnancy outcomes[1-3].However,the influence of environmental and male factors on early reproductive outcomes cannot be ignored.As a novel form of environmental pollution,light at night(LAN)has intensified with the rapid pace of urbanization,potentially leading to reproductive health problems in both women and men.However,to our knowledge,no study has explored the effects of LAN exposure on the early reproductive outcomes of IVF.Furthermore,the normal development of embryos relies on the contributions of both partners,and the influence of male factors on the early reproductive outcomes of IVF should not be overlooked.展开更多
Background: The goal of preconception care is to improve the outcome of a mother’s pregnancy and childbirth. Nevertheless, in most developing nations;Zambia included, there are still issues with implementation of pre...Background: The goal of preconception care is to improve the outcome of a mother’s pregnancy and childbirth. Nevertheless, in most developing nations;Zambia included, there are still issues with implementation of preconception care. Therefore, the aim of this study was to establish the provision of preconception care by midwives, nurses and doctors at Ndola Teaching Hospital in Zambia. Methods: A concurrent embedded mixed methodology utilising a descriptive explorative study design, where 107 respondents were randomly selected using the lottery technique for quantitative part and two focused group discussions for qualitative part of the study was used. A self-administered questionnaire was used to collect quantitative data and a focus group discussion guide was used for the focus group discussions. Statistical Package of Social Sciences version 26 with significance set at 0.05 and at 95% confidence level and thematic analysis were used for data analysis. Results: 75% of the respondents in this study were not providing preconception care and only 25% of respondents were providing preconception care;however, this was provided randomly because there were no guidelines to follow. Among the respondents, 81.3% had medium knowledge, 70.1% had good practices and 92.5% had positive attitudes towards preconception care. Further analysis showed that the association between preconception care and knowledge, practices and attitudes was not statistically significant (p = values 0.336;0.344;1.000 respectively). Multivariate logistic regression revealed that participants with high knowledge were five times more likely to provide preconception care (OR = 5.00, CI = 0.42 - 59.7, P = 0.203). Generally, all the participants acknowledged that preconception care was an important package that could prevent maternal and child morbidities and mortalities. Conclusions: The study revealed that most of the respondents were not providing preconception care. Provision of preconception was done by a small fraction of the respondents and it was done in an unorderly manner due to lack of set standards and guidelines. Despite medium levels of knowledge and generally good practices and positive attitudes towards preconception care, its random provision indicates a need for established standards to enhance maternal and child health outcomes.展开更多
Objective: To examine the association between traditional Chinese medicine(TCM), preconception health patterns and fertility outcomes.Methods: A community-based prospective cohort study was conducted in China. A total...Objective: To examine the association between traditional Chinese medicine(TCM), preconception health patterns and fertility outcomes.Methods: A community-based prospective cohort study was conducted in China. A total of 3012 newly married women who were willing to conceive within 2 years were enrolled in the study and took National Free Prepregnancy Checkups(NFPC). A reliably structured self-rating scale was used to measure the TCM preconception health patterns of the enrolled women. A 3-year follow-up was conducted to obtain the fertility outcomes, including pregnancy rate, time to pregnancy, spontaneous miscarriage and newborn status. Statistical analyses were conducted using Chi-square or Fisher’s exact tests, logistic regression models, general linear models and the Cox proportional hazard model.Results: The fertility outcomes showed no statistic correlations to the terms of NFPC in this population.Approximately a half of the women(46.66%) had unhealthy patterns. Women with qi & blood-deficiency(odds ratio [OR] = 35.19, 95% confidence interval [CI] = 1.55–801.15) or qi-stagnation(OR = 4.55, 95% CI =0.90–23.06) pattern took a longer time to get pregnant, and those with qi-stagnation(OR = 2.05, 95% CI =1.1–3.82) or yang-deficiency(OR = 1.91, 95% CI = 1.12–3.25) pattern had a higher risk of spontaneous miscarriage.Conclusion: Three unhealthy TCM patterns during the preconception period might be risk factors for low fecundity or poor pregnancy outcomes. The TCM preconception pattern identification may provide a convenient and effective way to screen for potential pregnancy risks beyond the NFPC. Further, appropriate interventions based on the TCM preconception health patterns are needed to improve quality in women’s fecundability and birth outcomes.展开更多
Objectives: The aim of this study was to implement a health education program for education of preconception care (PCC) for female workers of reproductive age through a seminar and to evaluate the program based on PCC...Objectives: The aim of this study was to implement a health education program for education of preconception care (PCC) for female workers of reproductive age through a seminar and to evaluate the program based on PCC knowledge and awareness and behaviors before the seminar and at 3 and 6 months after the seminar. Methods: A small group health education seminar was implemented using leaflets for 84 female workers of reproductive age, age 20 to 35 years old, and an intervention by group discussion and feedback was provided. Of these participants, 60 (71%) who provided valid survey responses were included in the analysis. The primary outcome indicators were PCC knowledge, PCC awareness and behaviors, and a food frequency questionnaire, and the secondary outcome indicators were self-efficacy and the health awareness and stress management subscales of the Health-Promotion Lifestyle Profile scale. The survey was conducted three times, before the seminar and at 3 and 6 months after the seminar, and the results were compared. Results: The percentage of individuals with PCC knowledge was significantly increased at 3 months after the seminar as compared with before the seminar, and it remained at this level even at 6 months after the seminar. The percentage of individuals with PCC awareness and behaviors was significantly increased for the items actively eat foods containing folic acid, prevent sexually transmitted diseases, and conduct self-examinations for breast cancer at 3 months after the seminar and for the items eat well-balanced meals, make the mind active, prevent sexually transmitted diseases, and conduct self-examinations for breast cancer at 6 months after the seminar. Furthermore, the score for the health awareness subscale of the Health-Promotion Lifestyle Profile scale was significantly increased at 6 months after the seminar. Conclusion: The health education program established PCC knowledge at 6 months after the seminar and improved some PCC awareness and behaviors. Therefore, it was suggested that the program would be effective for education of PCC for female workers of reproductive age.展开更多
The American College of Obstetricians and Gynecologists recommends offering preconception and prenatal screening for cystic fibrosis (CF) while the American College of Medical Genetics also recommends screening for sp...The American College of Obstetricians and Gynecologists recommends offering preconception and prenatal screening for cystic fibrosis (CF) while the American College of Medical Genetics also recommends screening for spinal muscular atrophy (SMA) to all couples. Both groups suggest specific screening if there is a family or personal history of a genetic disease or if the individual is from a high risk ethnic group. The purpose of this study was to determine whether availability of a more comprehensive, affordable genetic screening tool increased the number of infertility patients choosing to be screened for CF and other genetic diseases. This was a retrospective chart review of new infertility patients evaluated between May 2010 and May 2013. Sixteen hundred seventy-five new infertility couples were offered CounsylTM expanded carrier screening. The carrier frequency for CF was 6.8% with 0% of the couples concordant heterozygotes. The carrier frequency for SMA was 2.51% with 0% of the couples concordant heterozygotes. With availability of the CounsylTM screening test, the percentage of new infertility patients choosing to have preconception genetic screening increased from 2% to 8% in this population. The largest increase (17.5% of new patients) in screening followed the reduction in out-of-pocket expense in May 2013. Infertility patients are in a unique position to investigate their family history, discuss appropriate preconception genetic screening, and, if discovered to be at high risk of a genetic illness, to review their reproductive options.展开更多
Adverse maternal and offspring reproductive outcomes,such as congenital disabilities,spontaneous pregnancy loss(SPL),preterm birth,gestational diabetes,and gestational hypertension,affect up to 20%of pregnancies[1–3]...Adverse maternal and offspring reproductive outcomes,such as congenital disabilities,spontaneous pregnancy loss(SPL),preterm birth,gestational diabetes,and gestational hypertension,affect up to 20%of pregnancies[1–3].Although the evidence remains elusive,a potential link emerged with the inappropriate periconceptional folate status[4].Folate belongs to one-carbon metabolism(OCM),playing pivotal roles in biological processes during the early development of humans,such as generating methyl groups for use in DNA synthesis,amino acid homeostasis,antioxidant generation,and epigenetic regulation[5,6].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.
文摘Objective: The purpose of this study was to evaluate health education using videos and leaflets for preconception care (PCC) awareness among adolescent females up to six months after the health education. Methods: The subjects were female university students living in the Kinki area. A longitudinal survey was conducted on 67 members in the intervention group, who received the health education, and 52 members in the control group, who did not receive the health education. The primary outcome measures were knowledge of PCC and the subscales of the Health Promotion Lifestyle Profile. Surveys were conducted before, after, and six months after the intervention in the intervention group, and an initial survey and survey six months later were conducted in the control group. Cochran’s Q test, Bonferroni’s multiple comparison test, and McNemar’s test were used to analyze the knowledge of PCC data. The Health Awareness, Nutrition, and Stress Management subscales of the Health Promotion Lifestyle Profile were analyzed by paired t-test, and comparisons between the intervention and control groups were performed using the two-way repeated measures analysis of variance. Results: In the intervention group of 67 people, the number of subjects who answered “correct” for five of the nine items concerning knowledge of PCC increased immediately after the health education (P = 0.006) but decreased for five items from immediately after the health education to six months later (P = 0.043). In addition, the number of respondents who answered “correct” for “low birth weight infants and future lifestyle-related diseases” (P = 0.016) increased after six months compared with before the health education. For the 52 subjects in the control group, there was no change in the number of subjects who answered “correct” for eight out of the nine items after six months. There was also no increase in scores for the Health Promotion Lifestyle Profile after six months for either the intervention or control group. Conclusion: Providing health education about PCC using videos and leaflets to adolescent females was shown to enhance the knowledge of PCC immediately after the education.
基金supported by the National Natural Science Foundation of China(8200340181972981)+1 种基金the Scientific and Technological Project of Henan Province(222102310150,China)the Open Research Fund of the National Health Commission Key Laboratory of Birth Defects Prevention(NHCKLBDP202504,China).
文摘Preterm birth(PTB),defined as delivery before 37 weeks of gestation,is the most common adverse pregnancy outcome[1].PTB is a global health concern,with an estimated 13.4 million cases in 2020[1],accounting for more than one in 10 births worldwide.Compared to full-term births,PTBs are associated with a higher risk of short-and long-term complications,including bronchopulmonary dysplasia,necrotizing enterocolitis,visual impairment,and cerebral injuries[2].Despite substantial research efforts to prevent PTB,the global PTB rate has shown little improvement over the past decade[1].Therefore,identifying additional risk factors remains a critical goal in preventing PTB.
基金supported by grants from the National Key Research and Development Program of China(No.2018YFC1004201)National Natural Science Foundation of China(No.82473642)+3 种基金Research Funds of the Center for Big Data and Population Health of IHM(No.JKS2023017)Natural Science Foundation of Anhui Province(No.2408085QH278)Research Fund of the Anhui Institute of Translational Medicine(No.2022zhyx-C05)Anhui Medical University National Undergraduate Innovation and Entrepreneurship Training Program(No.S202410366070).
文摘Infertility,defined as the inability to achieve a clinical pregnancy after 1 year of unprotected and regular sexual intercourse,affects approximately 8%–12%of couples worldwide during their childbearing years.Assisted reproductive technology(ART)offers interventions to facilitate conception in couples with infertility.Since the inception of traditional in vitro fertilization(IVF)in 1978,ART has facilitated the birth of millions of infants.Intracytoplasmic sperm injection(ICSI)is an effective technique for couples ineligible for traditional IVF.Individual female factors,such as age and endometrial thickness,have been shown to affect embryo development during the IVF process,resulting in unfavorable pregnancy outcomes[1-3].However,the influence of environmental and male factors on early reproductive outcomes cannot be ignored.As a novel form of environmental pollution,light at night(LAN)has intensified with the rapid pace of urbanization,potentially leading to reproductive health problems in both women and men.However,to our knowledge,no study has explored the effects of LAN exposure on the early reproductive outcomes of IVF.Furthermore,the normal development of embryos relies on the contributions of both partners,and the influence of male factors on the early reproductive outcomes of IVF should not be overlooked.
文摘Background: The goal of preconception care is to improve the outcome of a mother’s pregnancy and childbirth. Nevertheless, in most developing nations;Zambia included, there are still issues with implementation of preconception care. Therefore, the aim of this study was to establish the provision of preconception care by midwives, nurses and doctors at Ndola Teaching Hospital in Zambia. Methods: A concurrent embedded mixed methodology utilising a descriptive explorative study design, where 107 respondents were randomly selected using the lottery technique for quantitative part and two focused group discussions for qualitative part of the study was used. A self-administered questionnaire was used to collect quantitative data and a focus group discussion guide was used for the focus group discussions. Statistical Package of Social Sciences version 26 with significance set at 0.05 and at 95% confidence level and thematic analysis were used for data analysis. Results: 75% of the respondents in this study were not providing preconception care and only 25% of respondents were providing preconception care;however, this was provided randomly because there were no guidelines to follow. Among the respondents, 81.3% had medium knowledge, 70.1% had good practices and 92.5% had positive attitudes towards preconception care. Further analysis showed that the association between preconception care and knowledge, practices and attitudes was not statistically significant (p = values 0.336;0.344;1.000 respectively). Multivariate logistic regression revealed that participants with high knowledge were five times more likely to provide preconception care (OR = 5.00, CI = 0.42 - 59.7, P = 0.203). Generally, all the participants acknowledged that preconception care was an important package that could prevent maternal and child morbidities and mortalities. Conclusions: The study revealed that most of the respondents were not providing preconception care. Provision of preconception was done by a small fraction of the respondents and it was done in an unorderly manner due to lack of set standards and guidelines. Despite medium levels of knowledge and generally good practices and positive attitudes towards preconception care, its random provision indicates a need for established standards to enhance maternal and child health outcomes.
基金supported by the China Scholarship Council scholarshipZhejiang National Science Foundation (No. LY17H270010)National Natural Science Foundation of China (No. 81202737).
文摘Objective: To examine the association between traditional Chinese medicine(TCM), preconception health patterns and fertility outcomes.Methods: A community-based prospective cohort study was conducted in China. A total of 3012 newly married women who were willing to conceive within 2 years were enrolled in the study and took National Free Prepregnancy Checkups(NFPC). A reliably structured self-rating scale was used to measure the TCM preconception health patterns of the enrolled women. A 3-year follow-up was conducted to obtain the fertility outcomes, including pregnancy rate, time to pregnancy, spontaneous miscarriage and newborn status. Statistical analyses were conducted using Chi-square or Fisher’s exact tests, logistic regression models, general linear models and the Cox proportional hazard model.Results: The fertility outcomes showed no statistic correlations to the terms of NFPC in this population.Approximately a half of the women(46.66%) had unhealthy patterns. Women with qi & blood-deficiency(odds ratio [OR] = 35.19, 95% confidence interval [CI] = 1.55–801.15) or qi-stagnation(OR = 4.55, 95% CI =0.90–23.06) pattern took a longer time to get pregnant, and those with qi-stagnation(OR = 2.05, 95% CI =1.1–3.82) or yang-deficiency(OR = 1.91, 95% CI = 1.12–3.25) pattern had a higher risk of spontaneous miscarriage.Conclusion: Three unhealthy TCM patterns during the preconception period might be risk factors for low fecundity or poor pregnancy outcomes. The TCM preconception pattern identification may provide a convenient and effective way to screen for potential pregnancy risks beyond the NFPC. Further, appropriate interventions based on the TCM preconception health patterns are needed to improve quality in women’s fecundability and birth outcomes.
文摘Objectives: The aim of this study was to implement a health education program for education of preconception care (PCC) for female workers of reproductive age through a seminar and to evaluate the program based on PCC knowledge and awareness and behaviors before the seminar and at 3 and 6 months after the seminar. Methods: A small group health education seminar was implemented using leaflets for 84 female workers of reproductive age, age 20 to 35 years old, and an intervention by group discussion and feedback was provided. Of these participants, 60 (71%) who provided valid survey responses were included in the analysis. The primary outcome indicators were PCC knowledge, PCC awareness and behaviors, and a food frequency questionnaire, and the secondary outcome indicators were self-efficacy and the health awareness and stress management subscales of the Health-Promotion Lifestyle Profile scale. The survey was conducted three times, before the seminar and at 3 and 6 months after the seminar, and the results were compared. Results: The percentage of individuals with PCC knowledge was significantly increased at 3 months after the seminar as compared with before the seminar, and it remained at this level even at 6 months after the seminar. The percentage of individuals with PCC awareness and behaviors was significantly increased for the items actively eat foods containing folic acid, prevent sexually transmitted diseases, and conduct self-examinations for breast cancer at 3 months after the seminar and for the items eat well-balanced meals, make the mind active, prevent sexually transmitted diseases, and conduct self-examinations for breast cancer at 6 months after the seminar. Furthermore, the score for the health awareness subscale of the Health-Promotion Lifestyle Profile scale was significantly increased at 6 months after the seminar. Conclusion: The health education program established PCC knowledge at 6 months after the seminar and improved some PCC awareness and behaviors. Therefore, it was suggested that the program would be effective for education of PCC for female workers of reproductive age.
文摘The American College of Obstetricians and Gynecologists recommends offering preconception and prenatal screening for cystic fibrosis (CF) while the American College of Medical Genetics also recommends screening for spinal muscular atrophy (SMA) to all couples. Both groups suggest specific screening if there is a family or personal history of a genetic disease or if the individual is from a high risk ethnic group. The purpose of this study was to determine whether availability of a more comprehensive, affordable genetic screening tool increased the number of infertility patients choosing to be screened for CF and other genetic diseases. This was a retrospective chart review of new infertility patients evaluated between May 2010 and May 2013. Sixteen hundred seventy-five new infertility couples were offered CounsylTM expanded carrier screening. The carrier frequency for CF was 6.8% with 0% of the couples concordant heterozygotes. The carrier frequency for SMA was 2.51% with 0% of the couples concordant heterozygotes. With availability of the CounsylTM screening test, the percentage of new infertility patients choosing to have preconception genetic screening increased from 2% to 8% in this population. The largest increase (17.5% of new patients) in screening followed the reduction in out-of-pocket expense in May 2013. Infertility patients are in a unique position to investigate their family history, discuss appropriate preconception genetic screening, and, if discovered to be at high risk of a genetic illness, to review their reproductive options.
基金supported by the National Key Research and Development Program(2021YFC2701004 and 2024YFC2707602)the Natural Science Foundation of China(82070323,82373584,and 82204051)+2 种基金Chinese Academy of Medical Sciences Innovation Fund for Medical Sciences(2019-I2M-5-002)Shanghai Sailing Program(22YF1403900)Research Project of Shanghai Municipal Health Commission(202140444).
文摘Adverse maternal and offspring reproductive outcomes,such as congenital disabilities,spontaneous pregnancy loss(SPL),preterm birth,gestational diabetes,and gestational hypertension,affect up to 20%of pregnancies[1–3].Although the evidence remains elusive,a potential link emerged with the inappropriate periconceptional folate status[4].Folate belongs to one-carbon metabolism(OCM),playing pivotal roles in biological processes during the early development of humans,such as generating methyl groups for use in DNA synthesis,amino acid homeostasis,antioxidant generation,and epigenetic regulation[5,6].
