Non‐immune hydrops fetalis: A prospective study of 53 cases. Issue 12 (16th August 2013)

• Record Type: Journal Article
• Authors: Moreno, Carolina A.; Kanazawa, Thatiane; Barini, Ricardo; Nomura, Marcelo L.; Andrade, Kléber C.; Gomes, Cristiane P.; Heinrich, Juliana K.; Giugliani, Roberto; Burin, Maira; Cavalcanti, Denise P.
• Is Part Of: American journal of medical genetics. Volume 161:Issue 12(2013:Dec.)
• Page Start: 3078
• Page End: 3086
• Publication Date: 2013-08-16
• Subjects: non‐immune hydrops fetalis -- etiology -- protocol investigation -- spontaneous resolution -- inborn errors of metabolism, lysossomal storage disorder; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36171
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: 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. © 2013 Wiley Periodicals, Inc.