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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.

DOI:10.1016/j.ogc.2004.10.003
PMID:15644292
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。

相似文献

1
Invasive genetic diagnosis in multiple pregnancies.多胎妊娠的侵入性基因诊断
Obstet Gynecol Clin North Am. 2005 Mar;32(1):97-103, ix. doi: 10.1016/j.ogc.2004.10.003.
2
Prenatal diagnosis in twin gestations: a comparison between second-trimester amniocentesis and first-trimester chorionic villus sampling.双胎妊娠的产前诊断:孕中期羊膜腔穿刺术与孕早期绒毛取样的比较。
Obstet Gynecol. 1993 Jul;82(1):49-56.
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Prenatal diagnosis in multiple pregnancy.
Baillieres Best Pract Res Clin Obstet Gynaecol. 2000 Aug;14(4):663-75. doi: 10.1053/beog.2000.0103.
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Second-trimester amniocentesis vs. chorionic villus sampling for prenatal diagnosis in multiple gestations.中期妊娠羊膜腔穿刺术与绒毛取样术在多胎妊娠产前诊断中的比较
Ultrasound Obstet Gynecol. 2002 Nov;20(5):476-81. doi: 10.1046/j.1469-0705.2002.00826.x.
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Amniocentesis and chorionic villus sampling.羊水穿刺术和绒毛取样术。
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Infant morbidity following amniocentesis and chorionic villus sampling for prenatal karyotyping.羊膜穿刺术和绒毛取样用于产前核型分析后的婴儿发病率。
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Obstetrical Outcomes of Amniocentesis or Chorionic Villus Sampling in Dichorionic Twin Pregnancies.双绒毛膜性双胎妊娠行羊膜腔穿刺术或绒毛活检术的产科结局。
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引用本文的文献

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Correlation between missed abortion and insertional translocation involving chromosomes 1 and 7.稽留流产与涉及1号和7号染色体的插入易位之间的相关性。
Iran J Reprod Med. 2012 Jan;10(1):15-22.
2
Twin gestation pregnancies: genetic counseling and testing experience.双胎妊娠:遗传咨询与检测经验
J Genet Couns. 2006 Apr;15(2):119-27. doi: 10.1007/s10897-005-9007-2.