Nuchal translucency and cystic hygroma colli in screening for fetal major congenital heart defects in a series of 12 910 euploid pregnancies

Abstract

Objective 8.4, 6.6, 1.7, 8.9 and 6.3%, respectively. The incidence of major CHD was 1. 2% (10/813)

First-Trimester Cystic Hygroma

“…spective of normal karyotype. 18,19 Our findings support the recommendations that fetuses with cystic hygroma of all sizes require rigorous evaluation, because the rates of cardiac, urinary, central nervous system, and body wall anomalies are all increased. We also recognize that not all major congenital anomalies are excluded by prenatal ultrasonography.…”

Nuchal translucency and major congenital heart defects in fetuses with normal karyotype: a meta‐analysis

“…Among those, 32 were excluded from further analysis, and five more were excluded because they expressed NT cut‐offs as absolute values. Therefore, 20 studies were used for data synthesis (Tables S1 and S2; Figure S). The assessment of quality and risk of bias of the included studies is presented in Table S3.…”

“…Seventeen studies (151 369 fetuses; prevalence of major CHDs, 2.8:1000) were included in this analysis. The pooled sensitivity and specificity of NT > 95 th centile was 44.4% (95% CI, 39.5–49.5) and 94.5% (95% CI, 94.4–94.6), respectively (Figure ).…”

Fetal Ebstein's anomaly: early and late appearance

“…In the third fetus we observed a septated cystic hygroma in the nuchal area. Of note, increased nuchal edema and cystic hygroma are regarded as possible markers of fetal cardiac anomalies . In the fourth fetus Ebstein's anomaly was one of many other malformations.…”