scholarly journals Fragile X population carrier screening

2012 ◽  
Vol 14 (3) ◽  
pp. 350-350 ◽  
Author(s):  
Sylvia A. Metcalfe ◽  
Alison D. Archibald
Keyword(s):  
Fragile X ◽  
Carrier Screening

Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test

1994 ◽  
Vol 49 (4) ◽  
pp. 236-237
Author(s):  
W. Ted Brown ◽  
George E. Houck ◽  
Anna Jeziorowska ◽  
Faye N. Levinson ◽  
Xiaohua Ding ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Fragile X ◽  
Carrier Screening ◽  
Pcr Test

scholarly journals Fragile X syndrome carrier screening in pregnant women in Chinese Han population

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Chia-Cheng Hung ◽  
Chien-Nan Lee ◽  
Yu-Chu Wang ◽  
Chih-Ling Chen ◽  
Tze-Kang Lin ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Fragile X Syndrome ◽  
Chinese Women ◽  
Fragile X ◽  
Genetic Diagnosis ◽  
Cost Effective ◽  
Carrier Screening ◽  
Chinese Han ◽  
Cgg Repeat ◽  
Taiwanese Women

Abstract Fragile X syndrome (FXS) is the most frequent genetic cause of intellectual disability (ID). It was previously believed that the FXS prevalence was low in Chinese population, and the cost-efficiency of FXS carrier screening was questioned. This retrospective observational study was conducted between September 2014 and May 2017 to determine the prevalence of FXS carriers in a large Chinese cohort of pregnant women. The FMR1 CGG repeat status was determined in 20,188 pregnant Taiwanese women and we identified 26 women with premutation (PM). The PM allele was transmitted to the fetus in 17 pregnancies (56.6%), and six of 17 expanded to full mutation (FM). One asymptomatic woman had a FM allele with 280 CGG repeats. Prenatal genetic diagnosis of her first fetus revealed a male carrying a FMR1 gene deletion of 5′ UTR and exon 1. Her second fetus was a female carrying a FM allele as well. This is so far the largest study of the FXS carrier screening in Chinese women. The prevalence of premutation allele for FXS in normal asymptomatic Taiwanese women was found to be as high as 0.13% (1 in 777) in this study. The empirical evidence suggests that reproductive FXS carrier screening in Taiwan might be cost-effective.

A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study

2008 ◽  
Vol 10 (7) ◽  
pp. 525-535 ◽  
Author(s):  
Sylvia Metcalfe ◽  
Alice Jacques ◽  
Alison Archibald ◽  
Trent Burgess ◽  
Veronica Collins ◽  
...  
Keyword(s):  
Pilot Study ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Carrier Screening

Prenatal diagnosis and carrier screening for fragile X by PCR

1996 ◽  
Vol 64 (1) ◽  
pp. 191-195 ◽  
Author(s):  
W. Ted Brown ◽  
Sarah Nolin ◽  
George Houck ◽  
Xiaohua Ding ◽  
Anne Glicksman ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Fragile X ◽  
Carrier Screening

scholarly journals Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndrome

2007 ◽  
Vol 9 (4) ◽  
pp. 199-207 ◽  
Author(s):  
Charles M Strom ◽  
Donghui Huang ◽  
Yuanyin Li ◽  
Feras M Hantash ◽  
Jenny Rooke ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
High Throughput ◽  
Fragile X ◽  
Population Based ◽  
Carrier Screening

scholarly journals Fragile X carrier screening and FMR1 allele distribution in the Japanese population

2010 ◽  
Vol 32 (2) ◽  
pp. 110-114 ◽  
Author(s):  
Susumu Otsuka ◽  
Yumiko Sakamoto ◽  
Haruhiko Siomi ◽  
Mituo Itakura ◽  
Kenji Yamamoto ◽  
...  
Keyword(s):  
Japanese Population ◽  
Fragile X ◽  
Carrier Screening ◽  
Allele Distribution ◽  
Fmr1 Allele

scholarly journals Fragile X population carrier screening

2017 ◽  
Vol 20 (9) ◽  
pp. 1091-1092 ◽  
Author(s):  
Sylvia A Metcalfe ◽  
Martin B Delatycki ◽  
Jonathan Cohen ◽  
Alison D Archibald ◽  
Jon D Emery
Keyword(s):  
Fragile X ◽  
Carrier Screening
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