Prenatal diagnosis and genetic assessment of fetuses with single umbilical artery using chromosomal microarray analysis: a seven-year single-center retrospective study
Abstract Background The inherited causes behind fetuses with a single umbilical artery (SUA) are still poorly understood, largely because published studies are scarce. In the present research, efforts were made to uncover the genetic factors at play and to assess how SUA influences pregnancy outcome...
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BMC
2025-07-01
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| Series: | BMC Pregnancy and Childbirth |
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| Online Access: | https://doi.org/10.1186/s12884-025-07886-5 |
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| author | Jianlong Zhuang Nan Huang Yu’e Chen Jialing Wu Xiaofang Ye Chunnuan Chen |
| author_facet | Jianlong Zhuang Nan Huang Yu’e Chen Jialing Wu Xiaofang Ye Chunnuan Chen |
| author_sort | Jianlong Zhuang |
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| description | Abstract Background The inherited causes behind fetuses with a single umbilical artery (SUA) are still poorly understood, largely because published studies are scarce. In the present research, efforts were made to uncover the genetic factors at play and to assess how SUA influences pregnancy outcome. Methods A retrospective review was performed on 5,014 pregnant individuals who underwent prenatal diagnostic testing between September 2017 and April 2023. Of these, 123 fetuses were found to have SUA. Amniocentesis was carried out in all affected cases, with samples analyzed via conventional karyotyping and chromosomal microarray analysis (CMA) to detect any chromosomal abnormalities. Results In the present study, four cases of chromosome aneuploid and two cases of chromosomal structural abnormalities were identified through karyotype analysis, with the chromosomal aberration detection rate being 4.88% (6/123). CMA confirmed every abnormality detected by conventional karyotyping and additionally identified 11 pathogenic copy number variants that had been missed. These novel findings included clinically significant conditions such as Wolf–Hirschhorn syndrome, Xq28 duplication syndrome, 16p13.3 duplication syndrome, 16p11.2 deletion syndrome, and 22q11.21 deletion syndrome. Overall, CMA provided an incremental diagnostic yield of 8.94% (11/123) beyond what karyotyping alone achieved (P = 0.001). Conclusion CMA markedly improved the identification of clinically relevant genetic alterations in fetuses presenting with a single umbilical artery, especially when the anomaly occurred in isolation. These findings highlight the value of CMA for uncovering the genetic contributors to SUA and advance the characterization of genotype–phenotype relationships in these cases. |
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| institution | Kabale University |
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| language | English |
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| series | BMC Pregnancy and Childbirth |
| spelling | doaj-art-d8f8c5379e634cc78a855256cb66adec2025-08-20T04:02:50ZengBMCBMC Pregnancy and Childbirth1471-23932025-07-0125111010.1186/s12884-025-07886-5Prenatal diagnosis and genetic assessment of fetuses with single umbilical artery using chromosomal microarray analysis: a seven-year single-center retrospective studyJianlong Zhuang0Nan Huang1Yu’e Chen2Jialing Wu3Xiaofang Ye4Chunnuan Chen5Prenatal Diagnosis Center, Women’s and Children’s Affiliated Hospital of Huaqiao University, Quanzhou Women’s and Children’s HospitalThe teaching and research office of clinical laboratory medicine, Quanzhou Medical CollegeDepartment of Ultrasound, Quanzhou Women’s and Children’s HospitalPrenatal Diagnosis Center, Women’s and Children’s Affiliated Hospital of Huaqiao University, Quanzhou Women’s and Children’s HospitalDepartment of Neurology, Rare Disease Medical Center, The Second Affiliated Hospital of Fujian Medical UniversityDepartment of Neurology, Rare Disease Medical Center, The Second Affiliated Hospital of Fujian Medical UniversityAbstract Background The inherited causes behind fetuses with a single umbilical artery (SUA) are still poorly understood, largely because published studies are scarce. In the present research, efforts were made to uncover the genetic factors at play and to assess how SUA influences pregnancy outcome. Methods A retrospective review was performed on 5,014 pregnant individuals who underwent prenatal diagnostic testing between September 2017 and April 2023. Of these, 123 fetuses were found to have SUA. Amniocentesis was carried out in all affected cases, with samples analyzed via conventional karyotyping and chromosomal microarray analysis (CMA) to detect any chromosomal abnormalities. Results In the present study, four cases of chromosome aneuploid and two cases of chromosomal structural abnormalities were identified through karyotype analysis, with the chromosomal aberration detection rate being 4.88% (6/123). CMA confirmed every abnormality detected by conventional karyotyping and additionally identified 11 pathogenic copy number variants that had been missed. These novel findings included clinically significant conditions such as Wolf–Hirschhorn syndrome, Xq28 duplication syndrome, 16p13.3 duplication syndrome, 16p11.2 deletion syndrome, and 22q11.21 deletion syndrome. Overall, CMA provided an incremental diagnostic yield of 8.94% (11/123) beyond what karyotyping alone achieved (P = 0.001). Conclusion CMA markedly improved the identification of clinically relevant genetic alterations in fetuses presenting with a single umbilical artery, especially when the anomaly occurred in isolation. These findings highlight the value of CMA for uncovering the genetic contributors to SUA and advance the characterization of genotype–phenotype relationships in these cases.https://doi.org/10.1186/s12884-025-07886-5Single umbilical arteryChromosomal microarray analysisCopy number variantsKaryotype analysisPrenatal diagnosis |
| spellingShingle | Jianlong Zhuang Nan Huang Yu’e Chen Jialing Wu Xiaofang Ye Chunnuan Chen Prenatal diagnosis and genetic assessment of fetuses with single umbilical artery using chromosomal microarray analysis: a seven-year single-center retrospective study BMC Pregnancy and Childbirth Single umbilical artery Chromosomal microarray analysis Copy number variants Karyotype analysis Prenatal diagnosis |
| title | Prenatal diagnosis and genetic assessment of fetuses with single umbilical artery using chromosomal microarray analysis: a seven-year single-center retrospective study |
| title_full | Prenatal diagnosis and genetic assessment of fetuses with single umbilical artery using chromosomal microarray analysis: a seven-year single-center retrospective study |
| title_fullStr | Prenatal diagnosis and genetic assessment of fetuses with single umbilical artery using chromosomal microarray analysis: a seven-year single-center retrospective study |
| title_full_unstemmed | Prenatal diagnosis and genetic assessment of fetuses with single umbilical artery using chromosomal microarray analysis: a seven-year single-center retrospective study |
| title_short | Prenatal diagnosis and genetic assessment of fetuses with single umbilical artery using chromosomal microarray analysis: a seven-year single-center retrospective study |
| title_sort | prenatal diagnosis and genetic assessment of fetuses with single umbilical artery using chromosomal microarray analysis a seven year single center retrospective study |
| topic | Single umbilical artery Chromosomal microarray analysis Copy number variants Karyotype analysis Prenatal diagnosis |
| url | https://doi.org/10.1186/s12884-025-07886-5 |
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