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Prenatal diagnosis of Pena‐Shokeir syndrome type 1

1985; Wiley; Volume: 21; Issue: 2 Linguagem: Inglês

10.1002/ajmg.1320210209

1096-8628

Roxanne MacMillan, Guy M. Harbert, William D. Davis, Thaddeus E. Kelly, John M. Opitz, James F. Reynolds,

Prenatal Screening and Diagnostics

Abstract This report describes the sonographic diagnosis of the Pena‐Shokeir syndrome type 1 during the second trimester of a pregnancy which was electively terminated. The mother had previously delivered a macerated, hydropic infant with multiple congenital anomalies. The diagnosis was based on the recurrence of hydramnios and nonimmune hydrops in a fetus with normal chromosomes, normal amniotic fluid alpha‐fetoprotein, normal fetal echocardiography, and lack of evidence of a lysosomal storage disease. These observations suggest that serial sonography during the second trimester in pregnancies at risk may allow for the prenatal diagnosis of the Pena‐Shokeir syndrome type 1. Without further experience, it would not be prudent to suggest to couples at risk that the prenatal diagnosis of a recurrence can be assured with a high degree of accuracy.