Population-based carrier screening and prenatal diagnosis of fragile X syndrome in East Asian populations

Author:

Guo QiweiORCID,Chang Yih-Yuan,Huang Chien-Hao,Hsiao Yu-Shan,Hsiao Yu-Chiao,Chiu I-Fan,Zhou Yulin,Zhang HaixiaORCID,Ko Tsang-Ming

Funder

National Natural Science Foundation of China

Publisher

Elsevier BV

Subject

Genetics,Molecular Biology

Reference39 articles.

1. Committee opinion No. 691: carrier screening for genetic conditions;Obstet. Gynecol.,2017

2. Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests;Archibald;Genet. Med.,2018

3. EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders;Biancalana;Eur. J. Hum. Genet.,2015

4. Identification of fragile X pre-mutation carriers in the Chinese obstetric population using a robust FMR1 polymerase chain reaction assay: implications for screening and prenatal diagnosis;Cheng;Hong Kong Med. J.,2017

5. Social/economic costs and health-related quality of life in patients with fragile X syndrome in europe;Chevreul;Eur. J. Health Econ.,2016

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