Detección rápida de aneuploidías para la definición de incompatibilidad con la vida extrauterina independiente

Q4 Medicine

Revista Chilena de Obstetricia y Ginecologia Pub Date : 2022-05-25 DOI:10.24875/rechog.22000017

F. Viñals, Eliana Selman, Hugo Guajardo, Katrin Koenig, G. Quiroz, Lorena Hormazábal, Belkys Zambrano, Constanza Saint-Jean, Linder Díaz, Paula Vergara

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Abstract

Objective: To analyze the performance of QF-PCR test for the detection of aneuploidies. Method: All patients who underwent QF-PCR from September 2017 to May 2021, were included. Clinical, ultrasound and laboratory data were recorded in all cases, as well as follow-up of the cases, including those performing karyotype and the result was normal. Results: 213 prenatal genetic invasive procedures were performed in the study period, 72 for rapid detection of aneuploidy by QF-PCR. 48 patients (67%) were less than 15 weeks at the time of ultrasound diagnosis. The QF-PCR test demonstrated aneuploidy of chromosomes 18, 13, and triploidy in 21/49 cases reported as abnormal. Of the cases without suggestion of alteration (22), 17 agreed to continue the study with a karyotype, which was abnormal in 6 cases. There were 4 cases of discrepancy be-tween QF-PCR and karyotype, which could affect the clinical management of pregnancy. 25/72 cases (34. 7%) corresponded to lethal aneuploidy. Conclusions: Our results justify the use of QF-PCR. Considering the need to have a rapid diagnosis,

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快速检测非整倍体以定义与子宫外独立生命的不相容性

目的:分析QF-PCR检测非整倍体的性能。方法:纳入2017年9月至2021年5月所有接受QF-PCR的患者。所有病例均记录临床、超声、实验室资料，并随访，包括核型检查正常的病例。结果:在研究期间进行了213次产前遗传侵入性手术，72次采用QF-PCR快速检测非整倍体。超声诊断时小于15周48例(67%)。QF-PCR检测结果显示，21/49的异常病例出现18、13号染色体非整倍性和三倍体。在没有提示改变的病例中(22例)，17例同意继续研究核型，其中6例异常。QF-PCR与核型差异4例，可能影响临床妊娠处理。25/72例(34。7%)对应致死性非整倍体。结论:我们的结果证明使用QF-PCR是合理的。考虑到需要快速诊断，

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来源期刊

Revista Chilena de Obstetricia y Ginecologia Medicine-Obstetrics and Gynecology

CiteScore

0.50

自引率

0.00%

发文量

期刊介绍： The Revista Chilena de Obstetricia y Ginecología, founded in 1935, is the official Journal of the Chilean Society of Obstetrics and Gynecology. The Journal´s mission is to spread the medical progresses of the specialty through clinical and basic research, to promote teaching and to stimulate the improvement of obstetrician and gynecologists. The Journal publishes articles presented on the sessions of the Chilean Society of OBGYN, and also research work presented on meetings, or received from specialists from all over the country or abroad. It is published every two months, thus six numbers per year are available.