Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting
Abstract Fetal growth restriction (FGR), a leading cause of perinatal morbidity and mortality, is caused by fetal, maternal, and placental factors. Uniparental disomy (UPD) is a rare condition that leads to imprinting effects, low-level mosaic aneuploidies and homozygosity for pathogenic variants. I...
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Nature Portfolio
2024-01-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-023-50584-5 |
| _version_ | 1797363303372029952 |
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| author | Mengmeng Li Na Hao Yulin Jiang Huili Xue Yifang Dai Mingming Wang Junjie Bai Yan Lv Qingwei Qi Xiya Zhou |
| author_facet | Mengmeng Li Na Hao Yulin Jiang Huili Xue Yifang Dai Mingming Wang Junjie Bai Yan Lv Qingwei Qi Xiya Zhou |
| author_sort | Mengmeng Li |
| collection | DOAJ |
| description | Abstract Fetal growth restriction (FGR), a leading cause of perinatal morbidity and mortality, is caused by fetal, maternal, and placental factors. Uniparental disomy (UPD) is a rare condition that leads to imprinting effects, low-level mosaic aneuploidies and homozygosity for pathogenic variants. In the present study, UPD events were detected in 5 women with FGR by trio exome sequencing (trio-WES) of a cohort of 150 FGR cases. Furthermore, noninvasive prenatal testing results of the 5 patients revealed a high risk of rare autosomal trisomy. Trio-WES showed no copy-number variations (CNVs) or nondisease-causing mutations associated with FGR. Among the 5 women with FGR, two showed gene imprinting, and two exhibited confined placental mosaicism (CPM) by copy number variant sequencing (CNV-seq). The present study showed that in FGR patients with UPD, the detection of imprinted genes and CPM could enhance the genetic diagnosis of FGR. |
| first_indexed | 2024-03-08T16:19:26Z |
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| id | doaj.art-6f631672e3e542569c2fb71e1450cfaa |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-03-08T16:19:26Z |
| publishDate | 2024-01-01 |
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| series | Scientific Reports |
| spelling | doaj.art-6f631672e3e542569c2fb71e1450cfaa2024-01-07T12:26:29ZengNature PortfolioScientific Reports2045-23222024-01-011411910.1038/s41598-023-50584-5Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal settingMengmeng Li0Na Hao1Yulin Jiang2Huili Xue3Yifang Dai4Mingming Wang5Junjie Bai6Yan Lv7Qingwei Qi8Xiya Zhou9National Clinical Research Centre for Obstetric & Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical CollegeNational Clinical Research Centre for Obstetric & Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical CollegeNational Clinical Research Centre for Obstetric & Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical CollegeMedical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical UniversityMedical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical UniversityGenoDecode (Beijing) Co. Ltd.Be Creative Lab (Beijing) Co. Ltd.National Clinical Research Centre for Obstetric & Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical CollegeNational Clinical Research Centre for Obstetric & Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical CollegeNational Clinical Research Centre for Obstetric & Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical CollegeAbstract Fetal growth restriction (FGR), a leading cause of perinatal morbidity and mortality, is caused by fetal, maternal, and placental factors. Uniparental disomy (UPD) is a rare condition that leads to imprinting effects, low-level mosaic aneuploidies and homozygosity for pathogenic variants. In the present study, UPD events were detected in 5 women with FGR by trio exome sequencing (trio-WES) of a cohort of 150 FGR cases. Furthermore, noninvasive prenatal testing results of the 5 patients revealed a high risk of rare autosomal trisomy. Trio-WES showed no copy-number variations (CNVs) or nondisease-causing mutations associated with FGR. Among the 5 women with FGR, two showed gene imprinting, and two exhibited confined placental mosaicism (CPM) by copy number variant sequencing (CNV-seq). The present study showed that in FGR patients with UPD, the detection of imprinted genes and CPM could enhance the genetic diagnosis of FGR.https://doi.org/10.1038/s41598-023-50584-5 |
| spellingShingle | Mengmeng Li Na Hao Yulin Jiang Huili Xue Yifang Dai Mingming Wang Junjie Bai Yan Lv Qingwei Qi Xiya Zhou Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting Scientific Reports |
| title | Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting |
| title_full | Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting |
| title_fullStr | Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting |
| title_full_unstemmed | Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting |
| title_short | Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting |
| title_sort | contribution of uniparental disomy to fetal growth restriction a whole exome sequencing series in a prenatal setting |
| url | https://doi.org/10.1038/s41598-023-50584-5 |
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