胎儿
异染性白质营养不良
绒毛取样
胎儿水肿
医学
粘多糖病
三体
过氧化物酶体障碍
产前诊断
怀孕
脐带
产科
内科学
生物
病理
遗传学
解剖
过氧化物酶体
受体
作者
Pierangela De Biasio,Federico Prefumo,Valentina Casagrande,Marina Stroppiano,Pier Luigi Venturini,Mirella Filocamo
摘要
To assess the association between inherited metabolic disorders and nuchal translucency (NT) measurements.The NT measurements obtained from 66 fetuses at high risk for metabolic diseases prior to chorionic villus sampling (CVS) were retrospectively analysed.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.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.
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