Prenatal diagnosis of Pena-Shokeir syndrome type 1.
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.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D004487:Edema / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D005808:Genes, Recessive; D005817:Genetic Counseling; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012306:Risk; D013577:Syndrome; D014463:Ultrasonography