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Prenatal diagnosis of Pena-Shokeir syndrome type 1.
Am J Med Genet. 1985 Jun; 21(2):279-84.AJ

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.

Authors

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Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3893126

Citation

MacMillan, R H., et al. "Prenatal Diagnosis of Pena-Shokeir Syndrome Type 1." American Journal of Medical Genetics, vol. 21, no. 2, 1985, pp. 279-84.
MacMillan RH, Harbert GM, Davis WD, et al. Prenatal diagnosis of Pena-Shokeir syndrome type 1. Am J Med Genet. 1985;21(2):279-84.
MacMillan, R. H., Harbert, G. M., Davis, W. D., & Kelly, T. E. (1985). Prenatal diagnosis of Pena-Shokeir syndrome type 1. American Journal of Medical Genetics, 21(2), 279-84.
MacMillan RH, et al. Prenatal Diagnosis of Pena-Shokeir Syndrome Type 1. Am J Med Genet. 1985;21(2):279-84. PubMed PMID: 3893126.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal diagnosis of Pena-Shokeir syndrome type 1. AU - MacMillan,R H, AU - Harbert,G M, AU - Davis,W D, AU - Kelly,T E, PY - 1985/6/1/pubmed PY - 1985/6/1/medline PY - 1985/6/1/entrez SP - 279 EP - 84 JF - American journal of medical genetics JO - Am J Med Genet VL - 21 IS - 2 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/3893126/Prenatal_diagnosis_of_Pena_Shokeir_syndrome_type_1_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1985&volume=21&issue=2&spage=279 DB - PRIME DP - Unbound Medicine ER -