通过卵胞浆内单精子注射（ICSI）受孕的妊娠中梅克尔-格鲁伯综合征的产前诊断。

Prenatal diagnosis of Meckel-Gruber syndrome in a pregnancy obtained with ICSI.

作者信息

Celentano Claudio, Prefumo Federico, Liberati Marco, Gallo Giuseppina, Di Nisio Quirino, Rotmensch Sigfried

机构信息

Department of Obstetrics and Gynecology, San Massimo Hospital, Penne, Italy.

出版信息

J Assist Reprod Genet. 2006 Jun;23(6):281-3. doi: 10.1007/s10815-006-9040-6. Epub 2006 Jun 21.

DOI:10.1007/s10815-006-9040-6

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3506372/

Abstract

The association of occipital encephalocele, cleft palate, postaxial polydactyly, polycystic kidneys, and hepatic cysts is well known as Meckel-Gruber syndrome (MGS). Nowadays, the diagnosis of MGS is usually performed prenatally by ultrasound findings. MGS was previously described following in vitro fertilization. We report a case of MGS diagnosed at 17 weeks in a pregnancy obtained with intra-cytoplasmic sperm injection (ICSI).

摘要

枕部脑膨出、腭裂、轴后多指畸形、多囊肾和肝囊肿的关联被熟知为梅克尔-格鲁伯综合征（MGS）。如今，MGS的诊断通常通过产前超声检查结果来进行。MGS此前在体外受精后被描述过。我们报告一例通过卵胞浆内单精子注射（ICSI）受孕、孕17周时被诊断为MGS的病例。

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