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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.

DOI:10.1016/0002-9378(90)90919-x
PMID:2113766
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。

相似文献

1
Cordocentesis for rapid karyotyping.用于快速核型分析的脐带穿刺术。
Am J Obstet Gynecol. 1990 Jun;162(6):1548-50; discussion 1550-3. doi: 10.1016/0002-9378(90)90919-x.
2
Role of cordocentesis in perinatal medicine.脐血穿刺术在围产医学中的作用。
Curr Opin Obstet Gynecol. 1994 Feb;6(1):30-5.
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Pulsed Doppler flow-velocity waveforms in the prediction of fetal hematocrit of the severely isoimmunized pregnancy.脉冲多普勒血流速度波形在预测严重血型不合妊娠胎儿血细胞比容中的应用
Am J Obstet Gynecol. 1989 Aug;161(2):341-4. doi: 10.1016/0002-9378(89)90516-4.
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Coenzyme Q10 fetal plasma levels.辅酶Q10胎儿血浆水平。
Fetal Diagn Ther. 1998 Mar-Apr;13(2):127-30. doi: 10.1159/000020820.
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Cost-Effectiveness of Exome Sequencing versus Targeted Gene Panels for Prenatal Diagnosis of Fetal Effusions and Non-Immune Hydrops Fetalis.外显子组测序与靶向基因panel 用于胎儿积液和非免疫性胎儿水肿的产前诊断的成本效益比较。
Am J Obstet Gynecol MFM. 2022 Nov;4(6):100724. doi: 10.1016/j.ajogmf.2022.100724. Epub 2022 Aug 19.
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Cordocentesis in isoimmunization and fetal physiologic measurement, infection, and karyotyping.母儿血型不合中的脐血穿刺术以及胎儿生理指标测量、感染和染色体核型分析。
Curr Opin Obstet Gynecol. 1991 Apr;3(2):266-71.
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[Hematological values in fetal blood by cordocentesis].[经皮脐血穿刺获取胎儿血液的血液学指标]
Nihon Sanka Fujinka Gakkai Zasshi. 1992 Jun;44(6):638-42.
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Rapid karyotyping in the second and third trimesters for fetuses at risk of chromosomal abnormalities at Chulalongkorn Hospital.朱拉隆功医院对有染色体异常风险的胎儿在孕中期和孕晚期进行快速核型分析。
J Med Assoc Thai. 1991 Apr;74(4):200-4.
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Rapid karyotyping in non-lethal fetal malformations.
Lancet. 1986 Feb 8;1(8476):283-7. doi: 10.1016/s0140-6736(86)90824-x.
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Percutaneous umbilical blood sampling: current trends and outcomes.经皮脐血取样:当前趋势与结果
Eur J Obstet Gynecol Reprod Biol. 2016 May;200:98-101. doi: 10.1016/j.ejogrb.2016.02.038. Epub 2016 Mar 5.

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