The present study aimed to examine the value of ultrasonic soft markers in prenatal screening by analyzing the clinical outcome of fetuses with ultrasonic soft markers during the second trimester of pregnancy. A retro...The present study aimed to examine the value of ultrasonic soft markers in prenatal screening by analyzing the clinical outcome of fetuses with ultrasonic soft markers during the second trimester of pregnancy. A retrospective analysis was performed to evaluate the outcome of 591 fetuses with ultrasonic soft markers from January 2015 to August 2016 in Zhongnan Hospital of Wuhan University, China. It was found that 591 fetuses showed ultrasonic soft markers in 4927 cases with the occurrence rate being 12.0%. Among them, 564 fetuses（95.4%） were delivered and the remaining 27 cases（4.6%） were aborted. Five hundred and sixty-seven cases had single ultrasonic soft marker, including echogenic intracardiac focus（n=343）, mild renal pelvis dilatation（n=116）, short long bones（n=72）, single umbilical artery（n=31）, mild lateral ventriculomegaly（n=21）, choroid plexus cysts（n=19）, and echogenic bowel（n=13）, with the disappearing rates in pregnancy being 97.1%（333/343）, 77.6%（90/116）, 0%（0/72）, 0%（0/31）, 57.1%（12/21）, 89.5%（17/19） and 61.5%（8/13） respectively. The rate of pregnancy termination due to single ultrasonic soft marker was 3.4%（19/567）, and that was 33.3%（8/24） due to two ultrasonic soft markers with the difference being statistically significant（P〈0.05）. The reasons of pregnancy termination included malformations（polycystic kidney, cleft lip and palate, congenital heart diseases, pcromphalus, hypospadias, hydrocephalus）, chromosome abnormality, and stillbirth. It was concluded that single ultrasonic soft marker is usually transient manifestation in pregnancy. Without the other structural defects, single ultrasonic soft marker usually disappears spontaneously with favorable prognosis in a low-risk population. It is suggested that ultrasonic soft markers should be appropriately interpreted to avoid unnecessary invasive examination.展开更多
Advances in prenatal screening have significantly improved the early detection of fetal anomalies and chromosomal abnormalities.Among these,first-trimester soft markers have emerged as valuable indicators of potential...Advances in prenatal screening have significantly improved the early detection of fetal anomalies and chromosomal abnormalities.Among these,first-trimester soft markers have emerged as valuable indicators of potential adverse outcomes.This review explores the clinical relevance of key markers—including increased nuchal translucency(NT),nasal bone hypoplasia,tricuspid regurgitation,aberrant right subclavian artery,and abnormal ductus venosus flow—and their associations with aneuploidy,structural malformations,and pregnancy complications such as preeclampsia and fetal growth restriction.We emphasize the importance of interpreting soft markers within a comprehensive clinical context,rather than in isolation,and examine their underlying pathophysiological mechanisms and associated statistical risks.Particular attention is given to the integration of soft marker findings with advanced screening techniques,including cell-free DNA(cfDNA)testing and maternal serum biochemistry,to improve diagnostic accuracy.In addition,we review current recommendations for clinical management,such as the use of follow-up diagnostic procedures like chorionic villus sampling or amniocentesis,and the role of multidisciplinary counselling in high-risk pregnancies.Future research should aim to validate novel soft markers and promote the standardization of screening protocols to enhance maternal and fetal outcomes.展开更多
Background:It is found to have association of facial parameters with trisomy 21 fetuses(T 21).We have compared prenasal thickness(PNT),nasal bone length(NBL),and the PNT:NBL ratio of normal fetuses with fetuses with t...Background:It is found to have association of facial parameters with trisomy 21 fetuses(T 21).We have compared prenasal thickness(PNT),nasal bone length(NBL),and the PNT:NBL ratio of normal fetuses with fetuses with trisomy 21(T 21)between 16 and 25 weeks of gestation as a diagnostic tool for T 21.Methods:Facial profile images in the two dimensional(2D)gray scale were assessed to measure fetal NBL and PNT between 16 and 25 weeks of gestation.The PNT:NBL ratio of the fetuses was calculated.Nomograms were constructed from the data of morphologically normal fetuses at live birth.The PNT,NBL,and PNT:NBL ratio of fetuses with confirmed T 21(n=31)and morphologically normal fetuses at live birth(controls,n=3485)were compared.Results:Nomograms for PNT,NBL,and the PNT:NBL ratio were constructed.In T 21 fetuses,PNT(>95th percentile),NBL(<5th percentile),and the PNT:NBL ratio(>95th percentile)showed a sensitivity of 25%,29%,and 45%for PNT,NBL,and PNT:NBL,respectively,and specificity of 95%,96%,and 94%,for PNT,NBL,and PNT:NBL,respectively.All of these markers showed a negative predictive value of 99%.Conclusion:PNT,NBL,and the PNT:NBL ratio have high diagnostic value for fetuses with Down syndrome and can be incorporated easily in the current second trimester screening protocol for T 21.PNT,NBL,and the PNT:NBL ratio are more specific markers for Down syndrome than those used in previous studies.展开更多
基金supported by the Innovation Platform Project of Science and Technology of Hubei Province(No.WJ2017H0003)
文摘The present study aimed to examine the value of ultrasonic soft markers in prenatal screening by analyzing the clinical outcome of fetuses with ultrasonic soft markers during the second trimester of pregnancy. A retrospective analysis was performed to evaluate the outcome of 591 fetuses with ultrasonic soft markers from January 2015 to August 2016 in Zhongnan Hospital of Wuhan University, China. It was found that 591 fetuses showed ultrasonic soft markers in 4927 cases with the occurrence rate being 12.0%. Among them, 564 fetuses（95.4%） were delivered and the remaining 27 cases（4.6%） were aborted. Five hundred and sixty-seven cases had single ultrasonic soft marker, including echogenic intracardiac focus（n=343）, mild renal pelvis dilatation（n=116）, short long bones（n=72）, single umbilical artery（n=31）, mild lateral ventriculomegaly（n=21）, choroid plexus cysts（n=19）, and echogenic bowel（n=13）, with the disappearing rates in pregnancy being 97.1%（333/343）, 77.6%（90/116）, 0%（0/72）, 0%（0/31）, 57.1%（12/21）, 89.5%（17/19） and 61.5%（8/13） respectively. The rate of pregnancy termination due to single ultrasonic soft marker was 3.4%（19/567）, and that was 33.3%（8/24） due to two ultrasonic soft markers with the difference being statistically significant（P〈0.05）. The reasons of pregnancy termination included malformations（polycystic kidney, cleft lip and palate, congenital heart diseases, pcromphalus, hypospadias, hydrocephalus）, chromosome abnormality, and stillbirth. It was concluded that single ultrasonic soft marker is usually transient manifestation in pregnancy. Without the other structural defects, single ultrasonic soft marker usually disappears spontaneously with favorable prognosis in a low-risk population. It is suggested that ultrasonic soft markers should be appropriately interpreted to avoid unnecessary invasive examination.
文摘Advances in prenatal screening have significantly improved the early detection of fetal anomalies and chromosomal abnormalities.Among these,first-trimester soft markers have emerged as valuable indicators of potential adverse outcomes.This review explores the clinical relevance of key markers—including increased nuchal translucency(NT),nasal bone hypoplasia,tricuspid regurgitation,aberrant right subclavian artery,and abnormal ductus venosus flow—and their associations with aneuploidy,structural malformations,and pregnancy complications such as preeclampsia and fetal growth restriction.We emphasize the importance of interpreting soft markers within a comprehensive clinical context,rather than in isolation,and examine their underlying pathophysiological mechanisms and associated statistical risks.Particular attention is given to the integration of soft marker findings with advanced screening techniques,including cell-free DNA(cfDNA)testing and maternal serum biochemistry,to improve diagnostic accuracy.In addition,we review current recommendations for clinical management,such as the use of follow-up diagnostic procedures like chorionic villus sampling or amniocentesis,and the role of multidisciplinary counselling in high-risk pregnancies.Future research should aim to validate novel soft markers and promote the standardization of screening protocols to enhance maternal and fetal outcomes.
文摘Background:It is found to have association of facial parameters with trisomy 21 fetuses(T 21).We have compared prenasal thickness(PNT),nasal bone length(NBL),and the PNT:NBL ratio of normal fetuses with fetuses with trisomy 21(T 21)between 16 and 25 weeks of gestation as a diagnostic tool for T 21.Methods:Facial profile images in the two dimensional(2D)gray scale were assessed to measure fetal NBL and PNT between 16 and 25 weeks of gestation.The PNT:NBL ratio of the fetuses was calculated.Nomograms were constructed from the data of morphologically normal fetuses at live birth.The PNT,NBL,and PNT:NBL ratio of fetuses with confirmed T 21(n=31)and morphologically normal fetuses at live birth(controls,n=3485)were compared.Results:Nomograms for PNT,NBL,and the PNT:NBL ratio were constructed.In T 21 fetuses,PNT(>95th percentile),NBL(<5th percentile),and the PNT:NBL ratio(>95th percentile)showed a sensitivity of 25%,29%,and 45%for PNT,NBL,and PNT:NBL,respectively,and specificity of 95%,96%,and 94%,for PNT,NBL,and PNT:NBL,respectively.All of these markers showed a negative predictive value of 99%.Conclusion:PNT,NBL,and the PNT:NBL ratio have high diagnostic value for fetuses with Down syndrome and can be incorporated easily in the current second trimester screening protocol for T 21.PNT,NBL,and the PNT:NBL ratio are more specific markers for Down syndrome than those used in previous studies.
