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First‐trimester fetal nuchal translucency and inherited metabolic disorders
Author(s) -
De Biasio Pierangela,
Prefumo Federico,
Casagrande Valentina,
Stroppiano Marina,
Venturini Pier Luigi,
Filocamo Mirella
Publication year - 2006
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1341
Subject(s) - fetus , metachromatic leukodystrophy , chorionic villus sampling , hydrops fetalis , medicine , mucopolysaccharidosis , trisomy , peroxisomal disorder , prenatal diagnosis , pregnancy , umbilical cord , obstetrics , biology , pathology , genetics , anatomy , peroxisome , receptor
Objectives 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. Conclusion 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. Copyright © 2006 John Wiley & Sons, Ltd.