Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports
Abstract Background Trisomy 16 (T16) is thought to be the most frequent chromosome abnormality at conception, which is often associated with a high risk of abnormal outcomes. Methods A retrospective analysis of 14 cases with high risk of T16 by noninvasive prenatal testing (NIPT) was conducted. All...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2021-09-01
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| Series: | Molecular Cytogenetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13039-021-00559-w |
| _version_ | 1818652457227517952 |
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| author | Haishan Peng Jiexia Yang Dongmei Wang Fangfang Guo Yaping Hou Aihua Yin |
| author_facet | Haishan Peng Jiexia Yang Dongmei Wang Fangfang Guo Yaping Hou Aihua Yin |
| author_sort | Haishan Peng |
| collection | DOAJ |
| description | Abstract Background Trisomy 16 (T16) is thought to be the most frequent chromosome abnormality at conception, which is often associated with a high risk of abnormal outcomes. Methods A retrospective analysis of 14 cases with high risk of T16 by noninvasive prenatal testing (NIPT) was conducted. All cases in the analysis involved prenatal diagnosis, karyotyping and chromosomal microarray analysis. Case reports NIPT detected 12 cases of T16 and 2 cases of T16 mosaicism. Prenatal diagnosis confirmed 5 true positive cases and 9 false positive cases. Among the 5 true positive cases, 3 cases had ultrasound abnormalities. All of the 9 false positive cases continued their pregnancies. The newborns who were from these 9 false positive cases except 1 case (case 7) had low birth weights (< 2.5 kg) and there were also 2 premature deliveries. Conclusion NIPT serves as a fast and early prenatal screening method, giving clues to chromosome abnormalities and providing guidance for managing pregnancy. Confined placental mosaicism in 16 pregnancies may be at higher risk for preterm delivery. |
| first_indexed | 2024-12-17T02:22:18Z |
| format | Article |
| id | doaj.art-c747af9b135247c4ad127cd33560ae9b |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-12-17T02:22:18Z |
| publishDate | 2021-09-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-c747af9b135247c4ad127cd33560ae9b2022-12-21T22:07:14ZengBMCMolecular Cytogenetics1755-81662021-09-011411610.1186/s13039-021-00559-wOutcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reportsHaishan Peng0Jiexia Yang1Dongmei Wang2Fangfang Guo3Yaping Hou4Aihua Yin5Prenatal Diagnosis Centre, Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children HospitalPrenatal Diagnosis Centre, Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children HospitalPrenatal Diagnosis Centre, Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children HospitalPrenatal Diagnosis Centre, Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children HospitalPrenatal Diagnosis Centre, Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children HospitalPrenatal Diagnosis Centre, Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children HospitalAbstract Background Trisomy 16 (T16) is thought to be the most frequent chromosome abnormality at conception, which is often associated with a high risk of abnormal outcomes. Methods A retrospective analysis of 14 cases with high risk of T16 by noninvasive prenatal testing (NIPT) was conducted. All cases in the analysis involved prenatal diagnosis, karyotyping and chromosomal microarray analysis. Case reports NIPT detected 12 cases of T16 and 2 cases of T16 mosaicism. Prenatal diagnosis confirmed 5 true positive cases and 9 false positive cases. Among the 5 true positive cases, 3 cases had ultrasound abnormalities. All of the 9 false positive cases continued their pregnancies. The newborns who were from these 9 false positive cases except 1 case (case 7) had low birth weights (< 2.5 kg) and there were also 2 premature deliveries. Conclusion NIPT serves as a fast and early prenatal screening method, giving clues to chromosome abnormalities and providing guidance for managing pregnancy. Confined placental mosaicism in 16 pregnancies may be at higher risk for preterm delivery.https://doi.org/10.1186/s13039-021-00559-wLow birth weightCMAMosaic trisomy 16 (MT16)Noninvasive prenatal testing (NIPT)Prenatal diagnosis |
| spellingShingle | Haishan Peng Jiexia Yang Dongmei Wang Fangfang Guo Yaping Hou Aihua Yin Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports Molecular Cytogenetics Low birth weight CMA Mosaic trisomy 16 (MT16) Noninvasive prenatal testing (NIPT) Prenatal diagnosis |
| title | Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports |
| title_full | Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports |
| title_fullStr | Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports |
| title_full_unstemmed | Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports |
| title_short | Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports |
| title_sort | outcomes of pregnancies with trisomy 16 mosaicism detected by nipt a series of case reports |
| topic | Low birth weight CMA Mosaic trisomy 16 (MT16) Noninvasive prenatal testing (NIPT) Prenatal diagnosis |
| url | https://doi.org/10.1186/s13039-021-00559-w |
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