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多胎妊娠的侵入性基因诊断

Invasive genetic diagnosis in multiple pregnancies.

作者信息

Appelman Zvi, Furman Boris

机构信息

Department of Obstetrics and Gynecology, Kaplan Medical Center, Rehovot 76100, Israel.

出版信息

Obstet Gynecol Clin North Am. 2005 Mar;32(1):97-103, ix. doi: 10.1016/j.ogc.2004.10.003.

Abstract

Chromosomal anomalies and mendelian diseases are more frequent in multiple gestations than in singletons. Prenatal diagnosis is recommended in multiple pregnancies whenever indicated. Invasive testing using amniocentesis or chorionic villus sampling can be performed safely. Chorionic villus sampling has a significant advantage over amniocentesis because it offers rapid karyotyping and biochemical and DNA studies at an early stage of pregnancy. Only experienced centers should perform these procedures because of the technical aspects and the expertise needed in handling discordant results.

摘要

染色体异常和孟德尔疾病在多胎妊娠中比单胎妊娠更常见。只要有指征,建议对多胎妊娠进行产前诊断。使用羊膜穿刺术或绒毛取样的侵入性检测可以安全地进行。绒毛取样相对于羊膜穿刺术有显著优势,因为它能在妊娠早期提供快速的核型分析以及生化和DNA研究。由于技术方面以及处理不一致结果所需的专业知识,只有经验丰富的中心才能进行这些操作。

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