Non-immune hydrops fetalis: A prospective study of 53 cases

Am J Med Genet A. 2013 Dec;161A(12):3078-86. doi: 10.1002/ajmg.a.36171. Epub 2013 Aug 16.


Non-immune hydrops fetalis (NIHF) is a symptom caused by a heterogeneous group of conditions. Diagnostic investigations may constitute a real challenge. This study aimed to evaluate prospectively and systematically a series of NIHF cases using a research protocol expanded for studying inborn errors of metabolism (IEM) during 2 years-2010 and 2011. We also reviewed the frequency of IEM among the NIHF reported in literature. A clinical or etiopathogenic diagnosis was reached in 46 (86.8%) of the 53 studied cases. The main diagnostic groups were chromosomal anomalies (28.3%), syndromic (18.9%), isolated cardiovascular anomaly (7.5%) and congenital infection (7.5%). Metabolic causes were found in 5.7%, all lysosomal storage disorders (LSD). In seven (13.2%), no diagnosis was found in part because of incomplete evaluation. The hydrops was identified prenatally in 90.5% of cases. In 5.7% a spontaneous and complete resolution of the hydrops occurred during pregnancy. Overall mortality was 75.5%. The IEM frequency in the present study (5.7%) was higher than that usually reported. We suggest performing studies directed to IEMs if the more common causes are excluded.

Keywords: etiology; inborn errors of metabolism, lysossomal storage disorder; non-immune hydrops fetalis; protocol investigation; spontaneous resolution.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosome Aberrations
  • Chromosome Disorders / complications
  • Chromosome Disorders / diagnosis
  • Chromosome Disorders / genetics*
  • Female
  • Humans
  • Hydrops Fetalis / diagnosis*
  • Hydrops Fetalis / genetics*
  • Hydrops Fetalis / mortality
  • Hydrops Fetalis / physiopathology
  • Infant, Newborn
  • Lysosomal Storage Diseases / diagnosis
  • Lysosomal Storage Diseases / genetics*
  • Lysosomal Storage Diseases / physiopathology
  • Male
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / genetics
  • Pregnancy