Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center
Abstract Background Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. Prenatal screening of FXS allows for early identification and intervention. The present study explored the feasibility of FXS carrier screening during prenatal diagnosis for those who were not...
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doaj-15e192857af44943b3a76ab706dacd4a2021-08-18T12:19:56ZengWileyMolecular Genetics & Genomic Medicine2324-92692021-07-0197n/an/a10.1002/mgg3.1711Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single centerHui Xi0Wanqin Xie1Jing Chen2Wanglan Tang3Xiuli Deng4Hua Li5Ying Peng6Dan Wang7Shuting Yang8Yanan Zhang9Ranhui Duan10Junqun Fang11Hua Wang12Department of Medical Genetics & the Prenatal Diagnosis Center of Hunan Province Hunan Provincial Maternal and Child Health Care Hospital Changsha Hunan ChinaNHC Key Laboratory of Birth Defects for Research and Prevention Hunan Provincial Maternal and Child Health Care Hospital Changsha Hunan ChinaDepartment of Medical Genetics & the Prenatal Diagnosis Center of Hunan Province Hunan Provincial Maternal and Child Health Care Hospital Changsha Hunan ChinaDepartment of Medical Genetics & the Prenatal Diagnosis Center of Hunan Province Hunan Provincial Maternal and Child Health Care Hospital Changsha Hunan ChinaDepartment of Medical Genetics & the Prenatal Diagnosis Center of Hunan Province Hunan Provincial Maternal and Child Health Care Hospital Changsha Hunan ChinaDepartment of Medical Genetics & the Prenatal Diagnosis Center of Hunan Province Hunan Provincial Maternal and Child Health Care Hospital Changsha Hunan ChinaDepartment of Medical Genetics & the Prenatal Diagnosis Center of Hunan Province Hunan Provincial Maternal and Child Health Care Hospital Changsha Hunan ChinaDepartment of Medical Genetics & the Prenatal Diagnosis Center of Hunan Province Hunan Provincial Maternal and Child Health Care Hospital Changsha Hunan ChinaDepartment of Medical Genetics & the Prenatal Diagnosis Center of Hunan Province Hunan Provincial Maternal and Child Health Care Hospital Changsha Hunan ChinaDepartment of Medical Genetics & the Prenatal Diagnosis Center of Hunan Province Hunan Provincial Maternal and Child Health Care Hospital Changsha Hunan ChinaCenter for Medical Genetics School of Life Sciences & Hunan Key Laboratory of Medical Genetics Central South University Changsha Hunan ChinaDepartment of Health Care Hunan Provincial Maternal and Child Health Care Hospital Changsha Hunan ChinaDepartment of Medical Genetics & the Prenatal Diagnosis Center of Hunan Province Hunan Provincial Maternal and Child Health Care Hospital Changsha Hunan ChinaAbstract Background Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. Prenatal screening of FXS allows for early identification and intervention. The present study explored the feasibility of FXS carrier screening during prenatal diagnosis for those who were not offered screening early in pregnancy or prior to conception. Methods Pregnant women to be offered amniotic fluid testing were recruited for the free voluntary carrier screening at a single center between August, 2017 and September, 2019. The number of CGG repeats in the 5’ un‐translated region of the fragile X mental retardation gene 1 (FMR1) was determined. Results 4286 of 7000 (61.2%) pregnant women volunteered for the screening. Forty (0.93%), five (0.11%), and three (0.07%) carriers for intermediate mutation (45–54 repeats), premutation (55–200 repeats) and full mutation (>200 repeats) of the FMR1 gene were identified respectively. None of the detected premutation alleles were inherited by the fetuses. Of the three full mutation carrier mothers, all had a family history and one transmitted a full mutation allele to her male fetus. Conclusion Implementation of FXS carrier screening during prenatal diagnosis may be considered for the need to increase screening for FXS.https://doi.org/10.1002/mgg3.1711carrier screeningFMR1fragile X syndromeprenatal diagnosis |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Hui Xi Wanqin Xie Jing Chen Wanglan Tang Xiuli Deng Hua Li Ying Peng Dan Wang Shuting Yang Yanan Zhang Ranhui Duan Junqun Fang Hua Wang |
spellingShingle |
Hui Xi Wanqin Xie Jing Chen Wanglan Tang Xiuli Deng Hua Li Ying Peng Dan Wang Shuting Yang Yanan Zhang Ranhui Duan Junqun Fang Hua Wang Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center Molecular Genetics & Genomic Medicine carrier screening FMR1 fragile X syndrome prenatal diagnosis |
author_facet |
Hui Xi Wanqin Xie Jing Chen Wanglan Tang Xiuli Deng Hua Li Ying Peng Dan Wang Shuting Yang Yanan Zhang Ranhui Duan Junqun Fang Hua Wang |
author_sort |
Hui Xi |
title |
Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center |
title_short |
Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center |
title_full |
Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center |
title_fullStr |
Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center |
title_full_unstemmed |
Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center |
title_sort |
implementation of fragile x syndrome carrier screening during prenatal diagnosis: a pilot study at a single center |
publisher |
Wiley |
series |
Molecular Genetics & Genomic Medicine |
issn |
2324-9269 |
publishDate |
2021-07-01 |
description |
Abstract Background Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. Prenatal screening of FXS allows for early identification and intervention. The present study explored the feasibility of FXS carrier screening during prenatal diagnosis for those who were not offered screening early in pregnancy or prior to conception. Methods Pregnant women to be offered amniotic fluid testing were recruited for the free voluntary carrier screening at a single center between August, 2017 and September, 2019. The number of CGG repeats in the 5’ un‐translated region of the fragile X mental retardation gene 1 (FMR1) was determined. Results 4286 of 7000 (61.2%) pregnant women volunteered for the screening. Forty (0.93%), five (0.11%), and three (0.07%) carriers for intermediate mutation (45–54 repeats), premutation (55–200 repeats) and full mutation (>200 repeats) of the FMR1 gene were identified respectively. None of the detected premutation alleles were inherited by the fetuses. Of the three full mutation carrier mothers, all had a family history and one transmitted a full mutation allele to her male fetus. Conclusion Implementation of FXS carrier screening during prenatal diagnosis may be considered for the need to increase screening for FXS. |
topic |
carrier screening FMR1 fragile X syndrome prenatal diagnosis |
url |
https://doi.org/10.1002/mgg3.1711 |
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