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[超声引导下经脐穿刺取胎儿血进行染色体核型分析。103例妊娠的研究]

[Fetal blood sampling for karyotype using echoguided puncture of the cord. Study of 103 pregnancies].

作者信息

Boulot P, Courtieu C, Lefort G, Deschamps F, Sarda P, Galand B, Mares P, Hedon B, Laffargue F, Viala J L

机构信息

Service de Gynécologie-Obstétrique et Faculté de Médecine de Montpellier-Nîmes.

出版信息

J Gynecol Obstet Biol Reprod (Paris). 1989;18(8):1007-15.

PMID:2695568
Abstract

Subcutaneous ultrasound guided puncture of the umbilical cord was carried out in order to obtain samples of blood in 103 fetuses. This was done to get the result of the karyotype quickly, i.e. in 72 hours. The indications were for diagnosis, particularly of malformations (63 cases) or intra-uterine growth retardation (24 cases). A small proportion of the indications were those for failures to carry out amniocentesis early or for checking on mosaics that were obtained after the culture of amniotic fluid cells. In 88% of the cases it was possible to obtain a karyotype and the results were checked with the sex of the fetus and the karyotype that had been obtained from amniocentesis. There were 11 abnormalities diagnosed. The chief indication of chromosome abnormality is fetal malformation. Because the result are obtained so quickly cordocentesis should replace late amniocentesis, at present when looking for fetal abnormalities.

摘要

为获取血液样本,对103例胎儿进行了皮下超声引导下的脐带穿刺。这样做是为了快速(即在72小时内)得到核型结果。其适应证是用于诊断,尤其是畸形(63例)或宫内生长迟缓(24例)。一小部分适应证是早期羊水穿刺未成功或用于检查羊水细胞培养后获得的嵌合体。88%的病例能够获得核型,并将结果与胎儿性别以及羊水穿刺获得的核型进行核对。共诊断出11例异常。染色体异常的主要适应证是胎儿畸形。由于结果获取迅速,在目前寻找胎儿异常时,脐带穿刺应取代晚期羊水穿刺。

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