A chromosomal microarray analysis-based laboratory algorithm for the detection of genetic etiology of early pregnancy loss
نویسندگان
چکیده
Background: Chromosomal abnormalities are a major cause of early pregnancy loss. However, models synthesizing existing genetic technologies to improve outcomes lacking. We aim provide an integrated laboratory algorithm for the etiology couples who experienced Methods: Over 6-year period, 3,634 products conception (POCs) following loss were collected. The clinical from based on single nucleotide polymorphism (SNP) array, fluorescence in situ hybridization (FISH), and parental chromosomal karyotyping assays comprehensively evaluated. Results: In total, 3,445 (94.8%) POCs had no maternal-cell contamination. Of those POCs, detection rate abnormal results was 65.2% (2,247/3,445), which 91.2% (2,050/2,247) numerical abnormalities, 2.7% (60/2,247) copy-number variations (CNVs) ≥10 Mb, (61/2,247) CNVs terminal deletion duplication, 2.8% (62/2,247) <10 0.6% (14/2,247) uniparental disomy. Furthermore, FISH confirmed 7 60 with mosaic aneuploids below 30% SNP array as tetraploid. 52 29 balanced rearrangements karyotyping. Conclusion: array-based combined optional is effective testing strategy, providing comprehensive reliable investigation miscarriage, regardless number miscarriages method conception.
منابع مشابه
Chromosomal Microarray Analysis for the Evaluation of Pregnancy Loss
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متن کامل12.04.122 Chromosomal Microarray Analysis for the Evaluation of Pregnancy Loss
Guidelines for cases of miscarriage or intrauterine fetal demise (IUFD) where genetic analysis of the embryo, fetus, or stillborn infant is indicated are based on guidelines from several reproductive health organizations, including the American Society for Reproductive Medicine (ASRM, 2013; ASRM, 2012), the National Society of Genetic Counselors (Laurino, 2005), and the American College of Obst...
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ژورنال
عنوان ژورنال: Frontiers in Genetics
سال: 2023
ISSN: ['1664-8021']
DOI: https://doi.org/10.3389/fgene.2023.1203891