PMID- 37470043 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20230721 IS - 1664-8021 (Print) IS - 1664-8021 (Electronic) IS - 1664-8021 (Linking) VI - 14 DP - 2023 TI - A chromosomal microarray analysis-based laboratory algorithm for the detection of genetic etiology of early pregnancy loss. PG - 1203891 LID - 10.3389/fgene.2023.1203891 [doi] LID - 1203891 AB - Background: Chromosomal abnormalities are a major cause of early pregnancy loss. However, models synthesizing existing genetic technologies to improve pregnancy outcomes are lacking. We aim to provide an integrated laboratory algorithm for the genetic etiology of couples who experienced pregnancy loss. Methods: Over a 6-year period, 3,634 products of conception (POCs) following early pregnancy loss were collected. The clinical outcomes from a laboratory algorithm based on single nucleotide polymorphism (SNP) array, fluorescence in situ hybridization (FISH), and parental chromosomal karyotyping assays were comprehensively evaluated. Results: In total, 3,445 of 3,634 (94.8%) POCs had no maternal-cell contamination. Of those POCs, the detection rate of abnormal results was 65.2% (2,247/3,445), of which 91.2% (2,050/2,247) had numerical chromosomal abnormalities, 2.7% (60/2,247) had copy-number variations (CNVs) >/=10 Mb, 2.7% (61/2,247) had CNVs of terminal deletion and duplication, 2.8% (62/2,247) had CNVs <10 Mb, and 0.6% (14/2,247) had uniparental disomy. Furthermore, FISH confirmed 7 of the 60 POCs with mosaic aneuploids below 30% based on the SNP array results as tetraploid. Of the 52 POCs with CNVs of terminal deletion and duplication, 29 couples had balanced rearrangements based on chromosomal karyotyping. Conclusion: The integrated SNP array-based algorithm combined with optional FISH and parental chromosomal karyotyping is an effective laboratory testing strategy, providing a comprehensive and reliable genetic investigation for the etiology of miscarriage, regardless of the number of miscarriages and the method of conception. CI - Copyright (c) 2023 Liao, Zhang, Liu, Wang, Hu, Xiao, Yang, Lai, Zhu, Li, Liu, Wang and Hu. FAU - Liao, Na AU - Liao N AD - Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. FAU - Zhang, Zhu AU - Zhang Z AD - Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. FAU - Liu, Xijing AU - Liu X AD - Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. FAU - Wang, Jiamin AU - Wang J AD - Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. FAU - Hu, Rui AU - Hu R AD - Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. FAU - Xiao, Like AU - Xiao L AD - Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. FAU - Yang, Yunyuan AU - Yang Y AD - Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. FAU - Lai, Yi AU - Lai Y AD - Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. FAU - Zhu, Hongmei AU - Zhu H AD - Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. FAU - Li, Lingping AU - Li L AD - Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. FAU - Liu, Shanling AU - Liu S AD - Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. FAU - Wang, He AU - Wang H AD - Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. FAU - Hu, Ting AU - Hu T AD - Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. LA - eng PT - Journal Article DEP - 20230629 PL - Switzerland TA - Front Genet JT - Frontiers in genetics JID - 101560621 PMC - PMC10352453 OTO - NOTNLM OT - chromosomal abnormality OT - chromosomal microarray analysis OT - copy-number variation OT - first trimester OT - miscarriage OT - pregnancy loss OT - products of conception OT - uniparental disomy COIS- The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. EDAT- 2023/07/20 06:42 MHDA- 2023/07/20 06:43 PMCR- 2023/06/29 CRDT- 2023/07/20 04:21 PHST- 2023/04/11 00:00 [received] PHST- 2023/06/20 00:00 [accepted] PHST- 2023/07/20 06:43 [medline] PHST- 2023/07/20 06:42 [pubmed] PHST- 2023/07/20 04:21 [entrez] PHST- 2023/06/29 00:00 [pmc-release] AID - 1203891 [pii] AID - 10.3389/fgene.2023.1203891 [doi] PST - epublish SO - Front Genet. 2023 Jun 29;14:1203891. doi: 10.3389/fgene.2023.1203891. eCollection 2023.