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胚胎移植前针对单基因疾病(镰状细胞贫血)进行植入前基因诊断/聚合酶链反应筛查后体外受精获得成功妊娠结局:尼日利亚一家体外受精诊所的临床经验

Successful pregnancy outcome after in vitro fertilisation following Pre-implantation Genetic Diagnosis/Polymerase Chain Reaction screening for single gene disorder (sickle cell anaemia) before embryo transfer: The clinical experience of an in vitro fertilisation clinic in Nigeria.

作者信息

Okeke Chizara, Ailoje-Ibru Kemi, Olukoya Kemi, Ogbeche Rose, Adewusi Abiola, Iloabachie Ebele, Ashiru Oladapo

机构信息

Medical Assisted Reproductive Technology Centre, Ikeja, Lagos, Nigeria.

Medical Assisted Reproductive Technology Centre, Ikeja, Lagos, Nigeria ; Medical Assisted Reproductive Technology Centre, University of Illinois, Chicago, Illinois, USA.

出版信息

Niger Med J. 2014 Jan;55(1):87-90. doi: 10.4103/0300-1652.128181.

Abstract

A couple, both carriers of the sickle cell anaemia trait (Genotype HbAS) with an offspring already affected with the genetic disease underwent a Pre-implantation Genetic Diagnosis/Polymerase Chain Reaction screening of biopsied blastomeres. DNA analysis of single blastomeres was carried out to find out indicated a viable intra-uterine pregnancy with embryos which carried the sickle cell mutation, which resulted in a livebirth (HbAS). PGD/PCR in combination with IVF appears to be the most suitable treatment plan for patients who are at a higher risk of reproducing offspring affected with inheritable genetic diseases.

摘要

一对夫妇都是镰状细胞贫血性状携带者(基因型HbAS),他们已有一个患有该遗传病的后代,对活检的卵裂球进行了植入前基因诊断/聚合酶链反应筛查。对单个卵裂球进行DNA分析,结果表明子宫内有一个存活的妊娠,胚胎携带镰状细胞突变,最终产下一个活婴(HbAS)。对于有较高风险生育受遗传性疾病影响后代的患者,PGD/PCR联合体外受精似乎是最合适的治疗方案。

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