Measurement of nuchal translucency for prenatal screening of congenital heart defects: a population-based evaluation

• Published in: Prenatal diagnosis 2011-12, Vol.31 (13), p.1264-1269
• Main Authors: Jouannic, Jean-Marie, Thieulin, Anne-Claire, Bonnet, Damien, Houyel, Lucile, Lelong, Nathalie, Goffinet, François, Khoshnood, Babak
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Biological and medical sciences; congenital heart defects; Delivery. Postpartum. Lactation; Female; Fundamental and applied biological sciences. Psychology; Genetics of eukaryotes. Biological and molecular evolution; Gynecology. Andrology. Obstetrics; Heart Defects, Congenital - diagnostic imaging; Humans; Likelihood Functions; Male; measurement of nuchal translucency; Medical sciences; Middle Aged; Molecular and cellular biology; Nuchal Translucency Measurement; Predictive Value of Tests; Pregnancy; Pregnancy Trimester, First; prenatal screening; Registries; Sensitivity and Specificity; Young Adult
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/pd.2883

Objectives (1) Assess sensitivity of the measurement of nuchal translucency (NT), for the prenatal screening of congenital heart defect (CHD) on population‐based data; (2) examine whether the sensitivity of NT varies for specific types of cardiac defects. Methods Using population‐based data of the Paris Registry of Congenital Malformation for 935 fetuses with CHD and without chromosomal anomalies for the period 2001 to 2007, we calculated sensitivity of NT, its positive predictive value and likelihood ratio, for all CHD and for six types of CHD. Results Sensitivity of NT was 7.1 and 4.2% for the 2.5 and 3.5 mm cut‐off values, respectively; when isolated ventricular septal defects were excluded, sensitivity increased to 9.9 and 6.3%. Positive predictive values were 1.1 and 3.2% for 2.5 and 3.5 mm cut‐offs, respectively. Of the six defects examined, sensitivity of NT was highest for heterotaxy followed by hypoplastic left heart syndrome and coarctation of aorta. Conclusion Prevalence of CHD was about fourfold higher for fetuses with NT ≥ 3.5 mm (3.2%) than in the general population. This higher risk is comparable to that of other risk factors commonly used for early referral to specialized echocardiography. Nevertheless, our results, suggest that NT is not a very effective or efficient tool for the prenatal screening of CHD. Copyright © 2011 John Wiley & Sons, Ltd.