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Hydrops fetalis in a cohort of 3,137 stillbirths and second trimester miscarriages.

著者 McPherson E
Am J Med Genet A.2019 Sep 11 ; ():.
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Hydrops fetalis was diagnosed in 277 (9%) of 3,137 fetuses referred to the Wisconsin Stillbirth Service Program (WiSSP) for etiologic evaluation of stillbirth or second trimester miscarriage. Hydrops was clinically recognized at delivery in only about half the cases, while the remainder were diagnosed at autopsy or during evaluation of records, photographs, and radiographs. The peak incidence of hydrops was at 20-28 weeks. Hydropic fetuses were also frequent before 20 weeks but became increasingly rare toward term. The most frequent identifiable underlying cause was chromosomal (29%), followed by other syndromes (14%), and more distantly by cardiac (6%) and other single system disorders. While the overall prevalence of hydrops and chromosomal causes was comparable to other autopsy series, the frequency of nonchromosomal syndromes was higher, reflecting increased attention to syndrome identification. Lethal multiple pterygium syndrome (LMPS) was identified retrospectively in 17 cases, accounting for 6% of all hydrops; 3/17 had a previous affected sib, emphasizing the importance of accurate diagnosis and counseling. Depending on the underlying cause, hydropic fetuses may be either small (if the cause is chromosomal or LMPS) or large (in cases with other syndromes or cardiac causes) for gestational age. The relatively large number in the "idiopathic" group in WiSSP (104/277; 38%) is probably due to variability of autopsies at local hospitals and limited laboratory data. Improved recognition of hydrops and testing directed at diagnosis of specific underlying causes can lead to improved counseling for families.
PMID: 31512356 [PubMed - as supplied by publisher]
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