PMID- 35421926 OWN - NLM STAT- MEDLINE DCOM- 20220418 LR - 20220716 IS - 1471-2393 (Electronic) IS - 1471-2393 (Linking) VI - 22 IP - 1 DP - 2022 Apr 14 TI - Factors associated with fetal karyotype in spontaneous abortion: a case-case study. PG - 320 LID - 10.1186/s12884-022-04491-8 [doi] LID - 320 AB - BACKGROUND: Most embryos that spontaneously abort during early pregnancy are found to have chromosomal abnormalities. The purpose of this study is to explore the factors involved in chromosome aberrations during embryogenesis. METHODS: A case-case study was performed to compare the risk factors for spontaneous abortion with and without embryo chromosome aberration. A total of 160 cases of spontaneous abortion were enrolled from a tertiary general hospital in Kunming. KaryoLite BACs-on-Beads (KL-BoBs) and fluorescence in situ hybridization (FISH) were employed to determine chromosomal constitution of abortion chorion villus samples. Maternal serum levels of homocysteine (Hcy) were detected by high performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS). Information about clinical background and environmental exposure was collected through a self-designed questionnaire. To identify the inherited chromosomal abnormalities, couples with chromosomal abnormalities in abortus were recalled for karyotyping. RESULTS: The overall rate of chromosomal abnormalities was 62.5% (100/160, KL-BoBs combined with FISH) including 51.9% (83/160) aneuploidies, 6.3% (10/160) polyploidies, and 4.4% (7/160) structural abnormalities. Only one case of structural abnormality was found to be inherited from maternal balanced translocation. Compared to abortus with normal karyotype, abortus with abnormal karyotype showed a positive association with parental age and elevated maternal serum homocysteine (Hcy) level, but negative association with previous miscarriage and perceived noise. CONCLUSIONS: Embryonic chromosomal aberrations accounted for the majority of spontaneous abortion cases. A combination of internal and external factors may induce spontaneous abortion through fetal chromosomal aberrations or other pathogenic mechanisms. CI - (c) 2022. The Author(s). FAU - Xu, Qinghua AU - Xu Q AD - School of Public Health, Kunming Medical University, No. 1168, Chunrongxi Road, Yuhua Street, Chenggong, Kunming, 650500, Yunnan, China. AD - Kunming Children's Hospital (Children's Hospital Affiliated to Kunming Medical University), No. 288, Qianxing Road, Kunming, 650228, Yunnan, China. FAU - Chan, Ying AU - Chan Y AD - The First People's Hospital of Yunnan Province, No. 157, Jinbi Road, Kunming, 650034, Yunnan, China. FAU - Feng, Yun AU - Feng Y AD - The First People's Hospital of Yunnan Province, No. 157, Jinbi Road, Kunming, 650034, Yunnan, China. FAU - Zhu, Baosheng AU - Zhu B AD - The First People's Hospital of Yunnan Province, No. 157, Jinbi Road, Kunming, 650034, Yunnan, China. FAU - Yang, Bicheng AU - Yang B AD - The First People's Hospital of Yunnan Province, No. 157, Jinbi Road, Kunming, 650034, Yunnan, China. FAU - Zhu, Shu AU - Zhu S AD - The First People's Hospital of Yunnan Province, No. 157, Jinbi Road, Kunming, 650034, Yunnan, China. FAU - Su, Lingyun AU - Su L AD - The First People's Hospital of Yunnan Province, No. 157, Jinbi Road, Kunming, 650034, Yunnan, China. FAU - Zou, Li AU - Zou L AD - The First People's Hospital of Yunnan Province, No. 157, Jinbi Road, Kunming, 650034, Yunnan, China. FAU - Feng, Na AU - Feng N AD - The First People's Hospital of Yunnan Province, No. 157, Jinbi Road, Kunming, 650034, Yunnan, China. FAU - Li, Yan AU - Li Y AUID- ORCID: 0000-0003-0806-7034 AD - School of Public Health, Kunming Medical University, No. 1168, Chunrongxi Road, Yuhua Street, Chenggong, Kunming, 650500, Yunnan, China. yanli20021965@21cn.com. LA - eng GR - 81673186/national natural science foundation of china/ GR - 2015YNPHXT01/yunnan provincial collaborative innovation center for public health and disease prevention and control grant/ PT - Journal Article DEP - 20220414 PL - England TA - BMC Pregnancy Childbirth JT - BMC pregnancy and childbirth JID - 100967799 RN - 0LVT1QZ0BA (Homocysteine) SB - IM MH - *Abortion, Spontaneous/genetics MH - Chromosome Aberrations MH - Female MH - Homocysteine MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotype MH - Karyotyping MH - Pregnancy MH - Tandem Mass Spectrometry PMC - PMC9012016 OTO - NOTNLM OT - Chromosomal abnormality OT - Environment OT - Genetic factor OT - Homocysteine OT - Spontaneous abortion COIS- The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. EDAT- 2022/04/16 06:00 MHDA- 2022/04/19 06:00 PMCR- 2022/04/14 CRDT- 2022/04/15 05:03 PHST- 2021/10/06 00:00 [received] PHST- 2022/02/17 00:00 [accepted] PHST- 2022/04/15 05:03 [entrez] PHST- 2022/04/16 06:00 [pubmed] PHST- 2022/04/19 06:00 [medline] PHST- 2022/04/14 00:00 [pmc-release] AID - 10.1186/s12884-022-04491-8 [pii] AID - 4491 [pii] AID - 10.1186/s12884-022-04491-8 [doi] PST - epublish SO - BMC Pregnancy Childbirth. 2022 Apr 14;22(1):320. doi: 10.1186/s12884-022-04491-8.