screening

Pregnant women’s experiences with genome-wide non-invasive prenatal testing in a national screening program – European Journal of Human Genetics

Chandrasekharan S, Minear MA, Hung A, Allyse M. Noninvasive prenatal testing is going global. Sci Transl Med. 2014;6:231fs15. Google Scholar article Gadsbøll K, Petersen OB, Gatineau V, Strange H, Jacobsson B, Wapner R, et al. Current use of non-invasive prenatal screening in Europe, Australia and the United States: a graphical presentation. Acta Obstet Gynecol Scand. …

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Use of Whole Exome Sequencing and Carrier Screening for Birth Defects

Use of Whole Exome Sequencing and Carrier Screening for Birth Defects

Content sponsored by BGI GenomicsDecember 8, 2022Reviewed by Olivia Frost In this interview, NewsMedical speaks with Renyi Hua, Maternal-Fetal Medicine and Prenatal Diagnostics Specialist at International Peace Maternity and Children’s Hospital, Shanghai, China, about her experience using whole exome sequencing and carrier screening tests. What types of patients are treated at International Peace Maternity and …

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Family genetic screening for Fabry disease detects 165 out of 331...

Family genetic screening for Fabry disease detects 165 out of 331…

Genetic testing of 331 family members of Russian patients with Fabry disease led to the detection of 165 undiagnosed cases, a study reports. Family genetic testing has also been shown to be more effective than other screening programs in identifying Fabry cases. “Family genetic testing was significantly more effective (49.8%) than screening programs in newborns …

Family genetic screening for Fabry disease detects 165 out of 331… Read More »