The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 Patients
Prenatal genetic counseling of fetuses diagnosed with 15q11.2 copy number variants (CNVs) involving the BP1–BP2 region is difficult due to limited information and controversial opinion on prognosis. In total, we collected the data of 36 pregnant women who underwent prenatal microarray analysis from...
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Frontiers Media S.A.
2021-11-01
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| Series: | Frontiers in Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2021.754521/full |
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| author | Jessica Kang Chien-Nan Lee Chien-Nan Lee Yi-Ning Su Ming-Wei Lin Yi-Yun Tai Wen-Wei Hsu Kuan-Ying Huang Chi-Ling Chen Chien-Hui Hung Shin-Yu Lin |
| author_facet | Jessica Kang Chien-Nan Lee Chien-Nan Lee Yi-Ning Su Ming-Wei Lin Yi-Yun Tai Wen-Wei Hsu Kuan-Ying Huang Chi-Ling Chen Chien-Hui Hung Shin-Yu Lin |
| author_sort | Jessica Kang |
| collection | DOAJ |
| description | Prenatal genetic counseling of fetuses diagnosed with 15q11.2 copy number variants (CNVs) involving the BP1–BP2 region is difficult due to limited information and controversial opinion on prognosis. In total, we collected the data of 36 pregnant women who underwent prenatal microarray analysis from 2010 to 2017 and were assessed at National Taiwan University Hospital. Comparison of the maternal characteristics, prenatal ultrasound findings, and postnatal outcomes among the different cases involving the 15q11.2 BP1–BP2 region were presented. Out of the 36 fetuses diagnosed with CNVs involving the BP1–BP2 region, five were diagnosed with microduplications and 31 with microdeletions. Among the participants, 10 pregnant women received termination of pregnancy and 26 gave birth to healthy individuals (27 babies in total). The prognoses of 15q11.2 CNVs were controversial and recent studies have revealed its low pathogenicity. In our study, the prenatal abnormal ultrasound findings were recorded in 12 participants and were associated with 15q11.2 deletions. No obvious developmental delay or neurological disorders were detected in early childhood. |
| first_indexed | 2024-12-22T08:56:08Z |
| format | Article |
| id | doaj.art-42dd194fdf3c469b89233c20679cb7c2 |
| institution | Directory Open Access Journal |
| issn | 2296-858X |
| language | English |
| last_indexed | 2024-12-22T08:56:08Z |
| publishDate | 2021-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Medicine |
| spelling | doaj.art-42dd194fdf3c469b89233c20679cb7c22022-12-21T18:31:50ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2021-11-01810.3389/fmed.2021.754521754521The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 PatientsJessica Kang0Chien-Nan Lee1Chien-Nan Lee2Yi-Ning Su3Ming-Wei Lin4Yi-Yun Tai5Wen-Wei Hsu6Kuan-Ying Huang7Chi-Ling Chen8Chien-Hui Hung9Shin-Yu Lin10Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, TaiwanDepartment of Medical Genetics, National Taiwan University Hospital, Taipei, TaiwanSofiva Genomics Co. Ltd., Taipei, TaiwanDepartment of Obstetrics and Gynecology, National Taiwan University Hospital Hsin-Chu Branch, Hsinchu, TaiwanDepartment of Medical Genetics, National Taiwan University Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, National Taiwan University Hospital Hospital Yun-Lin Branch, Yunlin, TaiwanDepartment of Obstetrics and Gynecology, National Taiwan University Hospital Hsin-Chu Branch, Hsinchu, TaiwanDepartment of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, TaiwanPrenatal genetic counseling of fetuses diagnosed with 15q11.2 copy number variants (CNVs) involving the BP1–BP2 region is difficult due to limited information and controversial opinion on prognosis. In total, we collected the data of 36 pregnant women who underwent prenatal microarray analysis from 2010 to 2017 and were assessed at National Taiwan University Hospital. Comparison of the maternal characteristics, prenatal ultrasound findings, and postnatal outcomes among the different cases involving the 15q11.2 BP1–BP2 region were presented. Out of the 36 fetuses diagnosed with CNVs involving the BP1–BP2 region, five were diagnosed with microduplications and 31 with microdeletions. Among the participants, 10 pregnant women received termination of pregnancy and 26 gave birth to healthy individuals (27 babies in total). The prognoses of 15q11.2 CNVs were controversial and recent studies have revealed its low pathogenicity. In our study, the prenatal abnormal ultrasound findings were recorded in 12 participants and were associated with 15q11.2 deletions. No obvious developmental delay or neurological disorders were detected in early childhood.https://www.frontiersin.org/articles/10.3389/fmed.2021.754521/full15q11.2 microdeletion15q11.2 microduplicationBP1–BP2copy number variantchromosome microarray analysis (CMA)prenatal |
| spellingShingle | Jessica Kang Chien-Nan Lee Chien-Nan Lee Yi-Ning Su Ming-Wei Lin Yi-Yun Tai Wen-Wei Hsu Kuan-Ying Huang Chi-Ling Chen Chien-Hui Hung Shin-Yu Lin The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 Patients Frontiers in Medicine 15q11.2 microdeletion 15q11.2 microduplication BP1–BP2 copy number variant chromosome microarray analysis (CMA) prenatal |
| title | The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 Patients |
| title_full | The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 Patients |
| title_fullStr | The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 Patients |
| title_full_unstemmed | The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 Patients |
| title_short | The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 Patients |
| title_sort | prenatal diagnosis and clinical outcomes of fetuses with 15q11 2 copy number variants a case series of 36 patients |
| topic | 15q11.2 microdeletion 15q11.2 microduplication BP1–BP2 copy number variant chromosome microarray analysis (CMA) prenatal |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2021.754521/full |
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