Genetic causes of hydrops fetalis.
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.
Van Maldergem
L
L
Centre de Génétique Humaine, Institut de Morphologie Pathologique, Loverval, Belgium.
Jauniaux
E
E
Fourneau
C
C
Gillerot
Y
Y
D001842:Bone and Bones / Q000002:abnormalities; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D015160:Hydrops Fetalis / Q000209:etiology / Q000235:genetics*; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000150:complications; D012189:Retrospective Studies