The hidden causes of pregnancy loss: a closer look
Abstract Background Unexpected pregnancy loss can be a traumatic experience for fertile couples. The aim of the study was to assess the nature and type of chromosomal variants involved in early and late pregnancy loss and provide couples an explanation on the cause of their pregnancy loss. Methods I...
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BMC
2025-06-01
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| Series: | Journal of Translational Medicine |
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| Online Access: | https://doi.org/10.1186/s12967-025-06678-x |
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| author | Panlai Shi Conghui Wang Hongbin Liang XiaoFan Zhu Xinyan Wang Yanting Ning Don Leigh David S. Cram Xiangdong Kong |
| author_facet | Panlai Shi Conghui Wang Hongbin Liang XiaoFan Zhu Xinyan Wang Yanting Ning Don Leigh David S. Cram Xiangdong Kong |
| author_sort | Panlai Shi |
| collection | DOAJ |
| description | Abstract Background Unexpected pregnancy loss can be a traumatic experience for fertile couples. The aim of the study was to assess the nature and type of chromosomal variants involved in early and late pregnancy loss and provide couples an explanation on the cause of their pregnancy loss. Methods Investigations were conducted on 2928 pregnancy loss cases where products of conception (POC) samples could be retrieved for genetic analysis. Chromosomal variants were detected by low pass copy number variation sequencing (CNV-seq). Results In first-trimester miscarriages, 1272 of POC (60.4%) samples had a chromosome abnormality. Autosomal aneuploidy and monosomy X were the predominate variants (73.2%), followed by autosomal and sex chromosome mosaicism (10.7%), triploidy (9.6%), pathogenic CNVs (6.2%) and haploidy (0.3%). The chromosomal variants were similar in type and frequency regardless of whether the fetus had normal or abnormal ultrasound findings. In second trimester pregnancy loss where there was either a structural or non-structural ultrasound anomaly, only 15.3% of POC samples had a chromosome abnormality, involving mainly the smaller autosomes and monosomy X (55.7%), autosomal and sex chromosomal mosaicism (11.5%), triploidy (4.1%) and pathogenic CNVs (28.7%). Conclusion Chromosomal variants contribute to fetal demise in almost two thirds of pregnancy losses. |
| format | Article |
| id | doaj-art-2af8a701e75d41ab998c581b64a949ac |
| institution | DOAJ |
| issn | 1479-5876 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Translational Medicine |
| spelling | doaj-art-2af8a701e75d41ab998c581b64a949ac2025-08-20T03:04:15ZengBMCJournal of Translational Medicine1479-58762025-06-0123111110.1186/s12967-025-06678-xThe hidden causes of pregnancy loss: a closer lookPanlai Shi0Conghui Wang1Hongbin Liang2XiaoFan Zhu3Xinyan Wang4Yanting Ning5Don Leigh6David S. Cram7Xiangdong Kong8Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou UniversityGenetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou UniversityGenetics and Precision Medicine Center, First People’s Hospital of KunmingGenetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou UniversityDepartment of Obstetrics, The First Affiliated Hospital of Zhengzhou UniversityDepartment of Ultrasound, The First Affiliated Hospital of Zhengzhou UniversityGenetics and Precision Medicine Center, First People’s Hospital of KunmingGenetics and Precision Medicine Center, First People’s Hospital of KunmingGenetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou UniversityAbstract Background Unexpected pregnancy loss can be a traumatic experience for fertile couples. The aim of the study was to assess the nature and type of chromosomal variants involved in early and late pregnancy loss and provide couples an explanation on the cause of their pregnancy loss. Methods Investigations were conducted on 2928 pregnancy loss cases where products of conception (POC) samples could be retrieved for genetic analysis. Chromosomal variants were detected by low pass copy number variation sequencing (CNV-seq). Results In first-trimester miscarriages, 1272 of POC (60.4%) samples had a chromosome abnormality. Autosomal aneuploidy and monosomy X were the predominate variants (73.2%), followed by autosomal and sex chromosome mosaicism (10.7%), triploidy (9.6%), pathogenic CNVs (6.2%) and haploidy (0.3%). The chromosomal variants were similar in type and frequency regardless of whether the fetus had normal or abnormal ultrasound findings. In second trimester pregnancy loss where there was either a structural or non-structural ultrasound anomaly, only 15.3% of POC samples had a chromosome abnormality, involving mainly the smaller autosomes and monosomy X (55.7%), autosomal and sex chromosomal mosaicism (11.5%), triploidy (4.1%) and pathogenic CNVs (28.7%). Conclusion Chromosomal variants contribute to fetal demise in almost two thirds of pregnancy losses.https://doi.org/10.1186/s12967-025-06678-xPregnancy lossFetal demiseCopy number sequencingWhole exome sequencingGenetic variants |
| spellingShingle | Panlai Shi Conghui Wang Hongbin Liang XiaoFan Zhu Xinyan Wang Yanting Ning Don Leigh David S. Cram Xiangdong Kong The hidden causes of pregnancy loss: a closer look Journal of Translational Medicine Pregnancy loss Fetal demise Copy number sequencing Whole exome sequencing Genetic variants |
| title | The hidden causes of pregnancy loss: a closer look |
| title_full | The hidden causes of pregnancy loss: a closer look |
| title_fullStr | The hidden causes of pregnancy loss: a closer look |
| title_full_unstemmed | The hidden causes of pregnancy loss: a closer look |
| title_short | The hidden causes of pregnancy loss: a closer look |
| title_sort | hidden causes of pregnancy loss a closer look |
| topic | Pregnancy loss Fetal demise Copy number sequencing Whole exome sequencing Genetic variants |
| url | https://doi.org/10.1186/s12967-025-06678-x |
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