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


CONCLUSIONS
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.
Service de Gynécologie-Obstétrique et Centre Pluridisciplinaire de Diagnostic Prénatal de l'Est Parisien, Hôpital Armand Trousseau, APHP, Paris 6, 26 Avenue A. Netter, 75012, Paris, France. jean-marie.jouannic@trs.aphp.fr
Jean-Marie
JM
Jouannic
Anne-Claire
AC
Thieulin
Damien
D
Bonnet
Lucile
L
Houyel
Nathalie
N
Lelong
François
F
Goffinet
Babak
B
Khoshnood
D000293:Adolescent; D000328:Adult; D005260:Female; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging*; D006801:Humans; D016013:Likelihood Functions; D008297:Male; D008875:Middle Aged; D048208:Nuchal Translucency Measurement; D011237:Predictive Value of Tests; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D012042:Registries; D012680:Sensitivity and Specificity; D055815:Young Adult