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用于快速核型分析的脐带穿刺术。

Cordocentesis for rapid karyotyping.

作者信息

Shah D M, Roussis P, Ulm J, Jeanty P, Boehm F H

机构信息

Division of Maternal-Fetal Medicine, Vanderbilt University School of Medicine, Nashville, TN.

出版信息

Am J Obstet Gynecol. 1990 Jun;162(6):1548-50; discussion 1550-3. doi: 10.1016/0002-9378(90)90919-x.

Abstract

Pure fetal blood was obtained by cordocentesis in 101 fetuses of 96 patients at 15 to 38 weeks' gestation. Rapid karyotype was obtained within 2 to 4 days by fetal lymphocyte culture. Chromosomal abnormality was detected in 12 (11.9%) fetuses. Abnormal karyotype was found in 5 of 44 fetuses with structural malformations, 3 of 13 fetuses with intrauterine growth retardation or oligohydramnios, 1 of 3 fetuses with nonimmune hydrops fetalis, 2 (one monozygotic set) of 10 discordant twins, 1 of 12 isoimmunized gestations, none of 8 cases with advanced gestational-maternal age, and none of 6 immune thrombocytopenia cases. This suggests that rapid karyotype should be obtained in all cases of fetal structural malformations, intrauterine growth retardation, and nonimmune fetal hydrops, and may be obtained incidentally in isoimmunized pregnancies and discordant twins to assist in clinical management.

摘要

对96例妊娠15至38周孕妇的101例胎儿进行脐带穿刺获取纯胎儿血。通过胎儿淋巴细胞培养在2至4天内获得快速核型分析结果。12例(11.9%)胎儿检测到染色体异常。44例有结构畸形的胎儿中有5例核型异常,13例有宫内生长受限或羊水过少的胎儿中有3例,3例非免疫性胎儿水肿的胎儿中有1例,10例不一致性双胎中有2例(1对单卵双胎),12例血型不合妊娠中有1例,8例孕母高龄病例中无异常,6例免疫性血小板减少病例中也无异常。这表明,对于所有胎儿结构畸形、宫内生长受限和非免疫性胎儿水肿病例均应进行快速核型分析,在血型不合妊娠和不一致性双胎中可能偶然进行,以协助临床处理。

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