Prenatal diagnosis of Pena-Shokeir syndrome type 1

Am J Med Genet. 1985 Jun;21(2):279-84. doi: 10.1002/ajmg.1320210209.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Adult
  • Edema / diagnosis
  • Edema / genetics
  • Female
  • Fetal Diseases / diagnosis
  • Fetal Diseases / genetics
  • Genes, Recessive
  • Genetic Counseling
  • Humans
  • Pregnancy
  • Prenatal Diagnosis*
  • Risk
  • Syndrome
  • Ultrasonography