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对1250份孕早期获得的绒毛膜绒毛样本进行细胞遗传学检查,并对其中1000例妊娠进行了临床随访。

Cytogenetic findings in 1250 chorionic villus samples obtained in the first trimester with clinical follow-up of the first 1000 pregnancies.

作者信息

Leschot N J, Wolf H, Van Prooijen-Knegt A C, van Asperen C J, Verjaal M, Schuring-Blom G H, Boer K, Kanhai H H, Christiaens G C

机构信息

University of Amsterdam, Academic Medical Centre, The Netherlands.

出版信息

Br J Obstet Gynaecol. 1989 Jun;96(6):663-70. doi: 10.1111/j.1471-0528.1989.tb03280.x.

DOI:10.1111/j.1471-0528.1989.tb03280.x
PMID:2803989
Abstract

First-trimester chorionic villus sampling (CVS) was performed in a series of 1250 pregnancies. The direct method of karyotyping was successful in 1205 (96.4%). Abnormal laboratory findings resulted in 60 terminations of pregnancy (4.8%). In addition, six unexpected balanced chromosome rearrangements were detected. False-positive cytogenetic findings occurred in 2.3%, comprising 22 with mosaicism confined to the trophoblast, and a further six non-mosaic false-positive discrepancies were detected, four after termination of pregnancy. The outcome of the first 1000 pregnancies is known in all but one. There were no false-negative findings. Of 947 pregnancies meant to be continued, 34 (3.6%) ended in pregnancy loss before 28 weeks gestation. However, obstetricians with an experience of over 150 procedures had a pregnancy loss of 1.3%.

摘要

对1250例妊娠进行了孕早期绒毛取样(CVS)。直接核型分析方法在1205例(96.4%)中成功。异常实验室结果导致60例妊娠终止(4.8%)。此外,检测到6例意外的平衡染色体重排。假阳性细胞遗传学结果发生率为2.3%,包括22例局限于滋养层的嵌合体,另外还检测到6例非嵌合性假阳性差异,其中4例发生在妊娠终止后。除1例之外,前1000例妊娠的结局均已知。无假阴性结果。在打算继续妊娠的947例中,34例(3.6%)在妊娠28周前流产。然而,有超过150例操作经验的产科医生的流产率为1.3%。

相似文献

1
Cytogenetic findings in 1250 chorionic villus samples obtained in the first trimester with clinical follow-up of the first 1000 pregnancies.对1250份孕早期获得的绒毛膜绒毛样本进行细胞遗传学检查,并对其中1000例妊娠进行了临床随访。
Br J Obstet Gynaecol. 1989 Jun;96(6):663-70. doi: 10.1111/j.1471-0528.1989.tb03280.x.
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Accuracy of cytogenetic findings on chorionic villus sampling (CVS)--diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCROMIC 1986-1992.绒毛取样(CVS)细胞遗传学检查结果的准确性——1986 - 1992年参与EUCROMIC研究的各中心中CVS嵌合体和非嵌合差异的诊断结果
Prenat Diagn. 1997 Sep;17(9):801-20. doi: 10.1002/(sici)1097-0223(199709)17:9<801::aid-pd153>3.0.co;2-e.
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Chorionic villi sampling: cytogenetic and clinical findings in 500 pregnancies.绒毛取样:500例妊娠的细胞遗传学及临床结果
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Cytogenetic diagnoses after chorionic villus sampling are less reliable in very-high-or very-low-risk pregnancies.在极高风险或极低风险的妊娠中,绒毛取样后的细胞遗传学诊断可靠性较低。
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Evaluation of transcervical chorionic villus sampling with a completed follow-up of 1550 consecutive pregnancies.对1550例连续妊娠进行完整随访的经宫颈绒毛取样评估。
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An evaluation of 75 terminations of pregnancy based on abnormal laboratory findings at first trimester CVS.基于孕早期绒毛取样(CVS)异常实验室检查结果对75例妊娠终止的评估。
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Medical Research Council European trial of chorion villus sampling. MRC working party on the evaluation pf chorion villus sampling.医学研究委员会欧洲绒毛取样试验。医学研究委员会绒毛取样评估工作小组。
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The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities.绒毛取样用于细胞遗传学异常早期产前诊断的安全性和有效性。
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[Prenatal diagnosis with chorionic villi and placenta puncture biopsy in the 1st to 3d trimester of pregnancy: diagnostic value of chromosome studies].[妊娠1至3期经绒毛膜和胎盘穿刺活检进行产前诊断:染色体研究的诊断价值]
Geburtshilfe Frauenheilkd. 1991 Sep;51(9):694-703. doi: 10.1055/s-2007-1023818.

引用本文的文献

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Periodic health examination, 1996 update: 1. Prenatal screening for and diagnosis of Down syndrome. Canadian Task Force on the Periodic Health Examination.定期健康检查,1996年更新版:1. 唐氏综合征的产前筛查与诊断。加拿大定期健康检查特别工作组。
CMAJ. 1996 Feb 15;154(4):465-79.
2
Maternal and fetal screening for antenatal care.产前护理的母婴筛查。
BMJ. 1990 Jun 23;300(6740):1653-4. doi: 10.1136/bmj.300.6740.1653-b.