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墨西哥 303 例妊娠丢失的染色体分析。

Chromosome analysis of 303 pregnancy losses in Mexico.

机构信息

Applied Genetics Unit, Hospital Ángeles Lomas, Huixquilucan, State of Mexico.

Human Genetics Medical Research Unit, High Specialty Medical Unit, Hospital de Pediatría, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Mexico City.

出版信息

Gac Med Mex. 2024;160(1):76-85. doi: 10.24875/GMM.M24000859.

Abstract

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.

摘要

背景

染色体异常存在于 50%至 60%的自然流产和 6%至 19%的死产中。虽然微阵列更适合研究染色体异常,但许多医院无法提供这种方法。

目的

介绍 303 例妊娠产物(POC)的细胞遗传学分析结果,其中包括 184 例自然流产、49 例死产和 17 例未明年龄的病例。

材料和方法

根据流产和可获得样本的类型,使用核型分析、荧光原位杂交、短串联重复和微阵列。

结果

在 29 个 POC 中我们发现了母体组织,并将其从分析中排除。在 250(91.2%)/274 例中获得了有意义的结果;核型分析成功率为 80.7%;单核苷酸多态性微阵列的成功率为 94.5%;荧光原位杂交和短串联重复的成功率为 100%。在 57.6%的自然流产和 24.5%的死产中观察到细胞遗传学异常;94%的总异常为数量异常,6%为亚微观异常。

结论

同时进行短串联重复研究以排除母体细胞污染的核型分析对研究自然流产是有效的;对于死产,建议使用微阵列。

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