对墨西哥 303 例妊娠损失进行染色体分析。

IF 0.6 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Gaceta medica de Mexico Pub Date : 2024-01-01 DOI:10.24875/GMM.M24000859
Luz M Garduño-Zarazúa, Dora G Mayén, Ricardo Meléndez-Hernández, Antonio J Paz-Martínez, Eva Ramírez-Arroyo, David Sosa, Mónica Aguinaga, Javier Pérez-Durán, Osiris Ríos, Jaime López-Valdez, Leda Torres, Sara Frias
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引用次数: 0

摘要

背景:50%至 60%的流产和 6%至 19%的死胎存在染色体异常。虽然微阵列是研究染色体异常的首选方法,但很多医院都无法提供这种方法:介绍对 303 例受孕产物(POC)进行细胞遗传学分析的结果,其中包括 184 例流产、49 例死胎和 17 例未确定年龄的受孕产物:根据流产类型和现有样本,我们采用了核型分析、荧光原位杂交、短串联重复和芯片技术:在 29 例 POC 中,我们发现了母体组织,并将其从分析中剔除。在 250 例(91.2%)/274 例病例中获得了有意义的结果;核型成功率为 80.7%;单核苷酸多态性芯片成功率为 94.5%;荧光原位杂交和短串联重复成功率为 100%。57.6%的流产和24.5%的死胎出现细胞遗传学异常;94%的异常为数字异常,6%为亚显微异常:结论:为排除母体细胞污染而同时进行短串联重复研究的核型分析对流产的研究非常有效;对于死胎,建议使用芯片分析。
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Chromosome analysis of 303 pregnancy losses in Mexico.

Background: Chromosomal abnormalities are present in 50 to 60% of miscarriages and in 6 to 19% of stillbirths. Although microarrays are preferred for studying chromosomal abnormalities, many hospitals cannot offer this methodology.

Objective: To present the results of the cytogenetic analysis of 303 products of conception (POC), which included 184 miscarriages, 49 stillbirths and 17 cases of undefined age.

Material and methods: Karyotyping, fluorescence in situ hybridization, short tandem repeats and microarrays were used, depending on the type of loss and available sample.

Results: In 29 POCs we found maternal tissue and were eliminated from the analyses. Informative results were obtained in 250 (91.2 %)/274 cases; the karyotyping success rate was 80.7%; that of single nucleotide polymorphism microarrays, 94.5%; and that of fluorescence in situ hybridization and short tandem repeat, 100%. Cytogenetic abnormalities were observed in 57.6% of miscarriages and in 24.5% of stillbirths; 94% of total anomalies were numerical and 6% were submicroscopic.

Conclusions: Karyotyping with simultaneous short tandem repeat study to rule out contamination of maternal cells is effective for studying miscarriages; in stillbirths, microarrays are recommended.

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来源期刊
Gaceta medica de Mexico
Gaceta medica de Mexico 医学-医学:内科
CiteScore
1.00
自引率
0.00%
发文量
216
审稿时长
6-12 weeks
期刊介绍: Gaceta Médica de México México is the official scientific journal of the Academia Nacional de Medicina de México, A.C. Its goal is to contribute to health professionals by publishing the most relevant progress both in research and clinical practice. Gaceta Médica de México is a bimonthly peer reviewed journal, published both in paper and online in open access, both in Spanish and English. It has a brilliant editorial board formed by national and international experts.
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