Van Maldergem L, Jauniaux E, Fourneau C, Gillerot Y
Centre de Génétique Humaine, Institut de Morphologie Pathologique, Loverval, Belgium.
Pediatrics. 1992 Jan;89(1):81-6.
A series of 1790 fetal and neonatal autopsies performed between 1976 and 1988 were retrospectively investigated for the presence of hydrops. Thirty (5.5%) and 35 (2.8%) cases of hydrops were found in the groups of fetal and neonatal autopsies, respectively. Genetic causes accounted for 35%. A careful search for previously reported genetic causes of fetal hydrops indicated 64 different etiologies. Twenty-one of them were not mentioned in the previous reviews: these include 9 skeletal dysplasias, 5 inborn errors of metabolism, 3 autosomal recessive, 3 autosomal dominant conditions, and 1 chromosomal abnormality.
对1976年至1988年间进行的1790例胎儿和新生儿尸检进行回顾性研究，以确定是否存在水肿。在胎儿尸检组和新生儿尸检组中分别发现30例（5.5%）和35例（2.8%）水肿病例。遗传原因占35%。对先前报道的胎儿水肿遗传原因进行仔细检索，发现了64种不同病因。其中21种在先前的综述中未被提及：包括9种骨骼发育不良、5种代谢性遗传病、3种常染色体隐性遗传病、3种常染色体显性遗传病和1种染色体异常。
