Cargando…
Prenatal diagnosis of mosaic trisomy 2 and literature review
BACKGROUND: We presented two cases of mosaic trisomy 2 with high risk of maternal serum screening and non-invasive prenatal testing (NIPT). The invasive amniocentesis was performed and genetic tests including karyotype, single nucleotide polymorphism array(SNP-array), interphase fluorescence in situ...
Autores principales: | , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7445897/ https://www.ncbi.nlm.nih.gov/pubmed/32855656 http://dx.doi.org/10.1186/s13039-020-00504-3 |
_version_ | 1783574072619171840 |
---|---|
author | Wang, Ting Lian, Jufei Ren, Congmian Huang, Huamei Huang, Yanlin Xu, Ling Zheng, Laiping Cai, Chanhui Guo, Li |
author_facet | Wang, Ting Lian, Jufei Ren, Congmian Huang, Huamei Huang, Yanlin Xu, Ling Zheng, Laiping Cai, Chanhui Guo, Li |
author_sort | Wang, Ting |
collection | PubMed |
description | BACKGROUND: We presented two cases of mosaic trisomy 2 with high risk of maternal serum screening and non-invasive prenatal testing (NIPT). The invasive amniocentesis was performed and genetic tests including karyotype, single nucleotide polymorphism array(SNP-array), interphase fluorescence in situ hybridization (FISH) were employed to detect the chromosomal abnormality. RESULTS: Cytogentic analysis of the case 1 and 2 showed a mosaic karyotype consisting of two cell lines (mos 47,XY,+2[8]/46,XY[19] and mos 47,XX,+2[7]/46,XX[28], respectively). SNP-array using DNA extracted from uncultured amniotic fluid cells revealed a result of arr[GRCh38](2)x2~3, which indicated that chromosome 2 may be trisomy of mosaicism in both two cases. The results of interphases FISH confirmation test showed that three red signals of the CEP 2 specific probe in 14%(14/100) and 12%(12/100) of the two cases’ cells, respectively, which indicated a mosaicism for trisomy 2 in the uncultured amniocytes. Fetal ultrasound of case 1 suggested that the long bone is smaller than the gestational age, while the case 2 showed that the biparietal diameter (BPD), head circumference (HC) and femur length (FL) were smaller than gestational age along with abnormal cardiac structure. CONCLUSIONS: We presented two cases with mosaic trisomy 2 and performed confirmatory genetic testing using cultured and uncultured amniocytes. When maternal serum screening and NIPT suggesting high risk, genetic counselor should be alert for increasing possibility of chromosomal anomalies if combined with abnormal ultrasound findings. |
format | Online Article Text |
id | pubmed-7445897 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-74458972020-08-26 Prenatal diagnosis of mosaic trisomy 2 and literature review Wang, Ting Lian, Jufei Ren, Congmian Huang, Huamei Huang, Yanlin Xu, Ling Zheng, Laiping Cai, Chanhui Guo, Li Mol Cytogenet Research BACKGROUND: We presented two cases of mosaic trisomy 2 with high risk of maternal serum screening and non-invasive prenatal testing (NIPT). The invasive amniocentesis was performed and genetic tests including karyotype, single nucleotide polymorphism array(SNP-array), interphase fluorescence in situ hybridization (FISH) were employed to detect the chromosomal abnormality. RESULTS: Cytogentic analysis of the case 1 and 2 showed a mosaic karyotype consisting of two cell lines (mos 47,XY,+2[8]/46,XY[19] and mos 47,XX,+2[7]/46,XX[28], respectively). SNP-array using DNA extracted from uncultured amniotic fluid cells revealed a result of arr[GRCh38](2)x2~3, which indicated that chromosome 2 may be trisomy of mosaicism in both two cases. The results of interphases FISH confirmation test showed that three red signals of the CEP 2 specific probe in 14%(14/100) and 12%(12/100) of the two cases’ cells, respectively, which indicated a mosaicism for trisomy 2 in the uncultured amniocytes. Fetal ultrasound of case 1 suggested that the long bone is smaller than the gestational age, while the case 2 showed that the biparietal diameter (BPD), head circumference (HC) and femur length (FL) were smaller than gestational age along with abnormal cardiac structure. CONCLUSIONS: We presented two cases with mosaic trisomy 2 and performed confirmatory genetic testing using cultured and uncultured amniocytes. When maternal serum screening and NIPT suggesting high risk, genetic counselor should be alert for increasing possibility of chromosomal anomalies if combined with abnormal ultrasound findings. BioMed Central 2020-08-25 /pmc/articles/PMC7445897/ /pubmed/32855656 http://dx.doi.org/10.1186/s13039-020-00504-3 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Research Wang, Ting Lian, Jufei Ren, Congmian Huang, Huamei Huang, Yanlin Xu, Ling Zheng, Laiping Cai, Chanhui Guo, Li Prenatal diagnosis of mosaic trisomy 2 and literature review |
title | Prenatal diagnosis of mosaic trisomy 2 and literature review |
title_full | Prenatal diagnosis of mosaic trisomy 2 and literature review |
title_fullStr | Prenatal diagnosis of mosaic trisomy 2 and literature review |
title_full_unstemmed | Prenatal diagnosis of mosaic trisomy 2 and literature review |
title_short | Prenatal diagnosis of mosaic trisomy 2 and literature review |
title_sort | prenatal diagnosis of mosaic trisomy 2 and literature review |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7445897/ https://www.ncbi.nlm.nih.gov/pubmed/32855656 http://dx.doi.org/10.1186/s13039-020-00504-3 |
work_keys_str_mv | AT wangting prenataldiagnosisofmosaictrisomy2andliteraturereview AT lianjufei prenataldiagnosisofmosaictrisomy2andliteraturereview AT rencongmian prenataldiagnosisofmosaictrisomy2andliteraturereview AT huanghuamei prenataldiagnosisofmosaictrisomy2andliteraturereview AT huangyanlin prenataldiagnosisofmosaictrisomy2andliteraturereview AT xuling prenataldiagnosisofmosaictrisomy2andliteraturereview AT zhenglaiping prenataldiagnosisofmosaictrisomy2andliteraturereview AT caichanhui prenataldiagnosisofmosaictrisomy2andliteraturereview AT guoli prenataldiagnosisofmosaictrisomy2andliteraturereview |