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(Abstracted from Ultrasound Obstet Gynecol2021;58:264–277)One of the risk factors for perinatal mortality and morbidity is abnormal fetal growth. The goal of this study was to study the prediction of adverse perinatal outcomes in preterm and term babies based on 3 birth weight (BW) standards (Australian population-based, Fenton, and INTERGROWTH-21st) and 3 estimated fetal weight (EFW) standards (Hadlock, INTERGROWTH-21st, and World Health Organization [WHO]) to classify small-for-gestational age (SGA) and large-for-gestational age (LGA).

Obstet Gynecol Surv 2016;71(1):11–13Preeclampsia (PE) continues to be a significant cause of maternal and fetal mortality and morbidity in both developed and developing societies. The aim of the study undertaken was to assess the value of intervention with low-dose aspirin after first-trimester prediction of early PE in an unselected population.

Screening for fetal cardiac defects is traditionally based on the ultrasonographic examination of the four‐chamber view of the fetal heart at mid‐gestation, which has been shown to identify 26% of major cardiac defects. Pathological studies in fetuses with increased nuchal translucency at 10–l4 weeks of gestation, a sonographic marker for chromosomal abnormalities, have shown an association between increased nuchal translucency and congenital abnormalities of the heart. This study reports the prevalence of cardiac defects in 1427 chromosomally normal fetuses with increased nuchal translucency thickness, and examines the potential value of this sonographic marker in screening for major cardiac defects. The diagnosis of cardiac defects was made either by postmortem examination in terminations of pregnancy and intrauterine or neonatal deaths or by clinical examination and appropriate investigations in live births. The prevalence of major cardiac defects was 17 per 1000 (24 of 1427 fetuses) and increased with translucency thickness from 5.4 per 1000 for translucency of 2.5–3.4 mm to 233 per 1000 for translucency of ≥ 5.5 mm. These findings suggest that measurement of nuchal translucency thickness at 10–l4 weeks may prove to be a useful method of screening for abnormalities of the heart and great arteries in addition to its role in screening for chromosomal defects. Copyright © 1997 International Society of Ultrasound in Obstetrics and Gynecology

This study examines GATA-4 gene expression in cardiac tissue from fetuses with trisomy 21 presenting with increased nuchal translucency thickness at 10–14 weeks of gestation. mRNA was extracted from cardiac tissue after termination of pregnancy at 10–18 weeks of gestation in ten trisomy 21 fetuses and 29 normal controls. Northern and slot blots were performed and densitometric analysis of slot blots was used to determine the steady-state levels of expression of GATA-4. GATA-4 transcript levels were also compared with ANP and BNP, which have previously been measured in the same panel of samples. GATA-4 expression increased significantly with gestation but there was no significant difference between fetuses with trisomy 21 and controls. There was no significant association between GATA-4 expression and the steady-state level of transcripts for the natriuretic peptides. © 1998 John Wiley & Sons, Ltd.

This study examines the ultrasonographic features of congenital lethal arthrogryposis. In 27 cases of arthrogryposis diagnosed in the second and third trimesters there was severe bilateral talipes, fixed flexion deformities of the wrists and elbows and either fixed flexion or extension of the knees. In seven (26%) of the cases there was nuchal edema. In two fetuses with arthrogryposis that were examined at 13 weeks of gestation the nuchal translucency thickness was above the 99th centile of the normal range for crown‐rump length. In three other women with previously affected pregnancies, ultrasound examination at 10–14 weeks demonstrated normal fetal nuchal translucency thickness and none of these fetuses were subsequently found to have arthrogryposis. These findings suggest that lethal arthrogryposis, which is usually diagnosed by the demonstration of multiple joint contractures during the second or third trimester of pregnancy, may present as increased nuchal translucency thickness at 10–14 weeks of gestation. Copyright © 1997 International Society of Ultrasound in Obstetrics and Gynecology

Pathological examination of the heart and great vessels was performed in 61 specimens obtained after surgical termination of pregnancy for psychosocial indications at 9-18 weeks of gestation. The aorta and pulmonary trunk were identified and external diameters were measured at the level of, and distal to the aortic valve and pulmonary valve, the level of the aortic isthmus and thoracic aorta, and the proximal and distal ductus arteriosus. All eight vessel diameters increased linearly with gestational age and the ratio of the diameter of the aortic isthmus to that of the aortic valve or the distal ductus arteriosus also increased with gestation. Early pregnancy is characterized by rapid growth of the fetal head and this may well be the consequence of a preferential distribution of left ventricular output in favour of the head due to relative narrowing of the aortic isthmus at this gestation.

To investigate whether the increased nuchal translucency of trisomic fetuses is the consequence of heart failure by examining cardiac expression of atrial natriuretic peptide and brain natriuretic peptide genes.

This study examines GATA‐4 gene expression in cardiac tissue from fetuses with trisomy 21 presenting with increased nuchal translucency thickness at 10–14 weeks of gestation. mRNA was extracted from cardiac tissue after termination of pregnancy at 10–18 weeks of gestation in ten trisomy 21 fetuses and 29 normal controls. Northern and slot blots were performed and densitometric analysis of slot blots was used to determine the steady‐state levels of expression of GATA‐4. GATA‐4 transcript levels were also compared with ANP and BNP, which have previously been measured in the same panel of samples. GATA‐4 expression increased significantly with gestation but there was no significant difference between fetuses with trisomy 21 and controls. There was no significant association between GATA‐4 expression and the steady‐state level of transcripts for the natriuretic peptides. © 1998 John Wiley & Sons, Ltd.

Fetal heart rate, umbilical artery pulsatility index, end-diastolic flow, nuchal translucency thickness and placental thickness were recorded in 250 women with a viable singleton pregnancy undergoing chorionic villous sampling for fetal karyotyping at 11-14 weeks of gestation. The fetal karyotype was normal in 210 cases and abnormal in 40, including 21 with trisomy 21, 13 with trisomy 18, three with triploidy, two with monosomy X and one with trisomy 13. A total of 52 fetuses with a normal karyotype had a nuchal translucency > or = 3 mm and were considered separately. There was a stable and significant increase in the mean fetal heart rate in trisomy 21 pregnancies compared to controls. No significant difference was found for the other variables between the groups. In chromosomally normal fetuses with an increased nuchal thickness, the development of fetal heart rate and compliance of the umbilico-placental circulation were within the normal ranges. Some fetuses with trisomy 18 or triploidy had an increased resistance to blood flow in the umbilical artery, which was probably due to abnormal placental development.

Noninvasive prenatal testing (NIPT) for trisomies 21, 18, and 13 and sex chromosome aneuploidies is based on isolating cell-free DNA from maternal plasma. Some guidelines recommend that NIPT be used as a second-line test for women at high risk based on traditional screening programs. This retrospective, population-based study was performed to determine the risk for missing other abnormal karyotypes of probable phenotypic significance by adopting NIPT for prenatal screening or diagnosis in women who had combined first-trimester screening (cFTS).

We present two cases of pregnant women with a previous history of congenital adrenal hyperplasia. In both cases the only abnormal feature in the initial pregnancy had been increased nuchal translucency at 10–14 weeks of gestation. The fetal karyotype was normal and a diagnosis of congenital adrenal hyperplasia was made after delivery. In their current pregnancies, both fetuses also had increased nuchal translucency and normal fetal karyotype. Diagnosis of 21‐hydroxylase deficiency was made prenatally by DNA analysis. These findings in four affected fetuses suggest that congenital adrenal hyperplasia should be added to the list of genetic anomalies associated with an increase in nuchal translucency. Copyright © 2001 John Wiley & Sons, Ltd.

We present two cases of pregnant women with a previous history of congenital adrenal hyperplasia. In both cases the only abnormal feature in the initial pregnancy had been increased nuchal translucency at 10–14 weeks of gestation. The fetal karyotype was normal and a diagnosis of congenital adrenal hyperplasia was made after delivery. In their current pregnancies, both fetuses also had increased nuchal translucency and normal fetal karyotype. Diagnosis of 21-hydroxylase deficiency was made prenatally by DNA analysis. These findings in four affected fetuses suggest that congenital adrenal hyperplasia should be added to the list of genetic anomalies associated with an increase in nuchal translucency. Copyright © 2001 John Wiley & Sons, Ltd.

Pathological examination of the great vessels was performed in 34 trisomy 21 fetuses after surgical termination of pregnancy at 11-16 weeks of gestation. In each case, the external diameters of eight segments of the great vessels were measured. The aortic valve and the ascending aorta were wider than in normal fetuses, whilst the aortic isthmus was narrower. The degree of narrowing of the isthmus was significantly greater in fetuses with high nuchal translucency thickness and it is possible that there is a causal association between the two.