H. Grandjean et al., SONOGRAPHIC MEASUREMENT OF NUCHAL SKINFOLD THICKNESS FOR DETECTION OFDOWN-SYNDROME IN THE 2ND-TRIMESTER FETUS - A MULTICENTER PROSPECTIVE-STUDY, Obstetrics and gynecology, 85(1), 1995, pp. 103-106
Objective: To determine the sensitivity and specificity of soft-tissue
nuchal-fold measurement in the second-trimester fetus for the detecti
on of trisomy 21. Method: Thirty-six investigators in 12 centers measu
red nuchal skinfold thickness in 3308 fetuses of 14-24 weeks' gestatio
n. All mothers were referred for amniocentesis because of age, history
of genetic disorder, or laboratory findings. Those referred with an u
ltrasound indication for amniocentesis, including nuchal-fold thickeni
ng, were excluded. Results: Overall, nuchal skinfold was 6 mm or more
in 8.5% of chromosomally normal fetuses and in 38% of those with triso
my 21. A false-positive rate below 5% was obtained by 81% of the inves
tigators. Raising the cutoff of normality to 7 mm after 18 weeks' gest
ation improved specificity. Conclusion: Although the diagnostic value
of this sign in skilled hands could allow its use as an indication for
genetic amniocentesis at the second trimester, the method does not ap
pear suitable for population screening because of the high variability
in the results among the investigators.