دورية أكاديمية

Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports

التفاصيل البيبلوغرافية
العنوان: Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports
المؤلفون: Haishan Peng, Jiexia Yang, Dongmei Wang, Fangfang Guo, Yaping Hou, Aihua Yin
المصدر: Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-6 (2021)
بيانات النشر: BMC, 2021.
سنة النشر: 2021
المجموعة: LCC:Genetics
مصطلحات موضوعية: Low birth weight, CMA, Mosaic trisomy 16 (MT16), Noninvasive prenatal testing (NIPT), Prenatal diagnosis, Genetics, QH426-470
الوصف: 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 (
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1755-8166
Relation: https://doaj.org/toc/1755-8166
DOI: 10.1186/s13039-021-00559-w
URL الوصول: https://doaj.org/article/c747af9b135247c4ad127cd33560ae9b
رقم الأكسشن: edsdoj.747af9b135247c4ad127cd33560ae9b
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:17558166
DOI:10.1186/s13039-021-00559-w