First-trimester fetal nuchal translucency and inherited metabolic disorders.
OBJECTIVE
To assess the association between inherited metabolic disorders and nuchal translucency (NT) measurements.


METHODS
The NT measurements obtained from 66 fetuses at high risk for metabolic diseases prior to chorionic villus sampling (CVS) were retrospectively analysed.


RESULTS
NT was found to be within the normal range in all of the 13 affected fetuses, which included three with Gaucher disease, two with glycogenosis type II, two with mucopolysaccharidosis type I and six others with Krabbe disease, metachromatic leukodystrophy, mucopolysaccharidosis type II, Niemann-Pick A disease, Pelizaeus-Merzbacher disease and sialidosis, respectively. An increased nuchal thickness was found only in one fetus affected with trisomy 21 but not affected with mucopolysaccharidosis type II.


CONCLUSIONS
NT appears to have a limited role in identifying affected fetuses in pregnancies at high risk for inherited metabolic disorders. NT may be normal in early pregnancy even for fetuses affected with conditions known to be associated with non-immune hydrops fetalis.
De Biasio
Pierangela
P
U.O. Ostetricia e Ginecologia, Istituto G. Gaslini, Università di Genova, Genova, Italy. bnhdeb@tin.it
Prefumo
Federico
F
Casagrande
Valentina
V
Stroppiano
Marina
M
Venturini
Pier Luigi
PL
Filocamo
Mirella
M
D000328:Adult; D004314:Down Syndrome / Q000000981:diagnostic imaging / Q000196:embryology; D005260:Female; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000000981:diagnostic imaging* / Q000196:embryology; D009333:Neck / Q000000981:diagnostic imaging* / Q000196:embryology; D011237:Predictive Value of Tests; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D016216:Ultrasonography, Prenatal