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YEX001 - A SERIES OF CASE STUDIES OF PRENATAL MOLECULAR TESTING USING WHOLE EXOME SEQUENCING.

The development of prenatal molecular testing has progressed from the early large segment chromosomal abnormality observation method, to DNA microarray technology, then into whole genome sequencing (WGS) and whole exome sequencing (WES), with every stage having its own advantages and disadvantages. However, compared with other molecular testing methods, WGS and WES are able to screen for fetal chromosomal abnormalities more comprehensively in specific cases. 

Yourgene Health invited Dr. Shu-Han You from the Department of Gynecology and Obstetrics in Chang Gung Memorial Hospital, Linkou, to share their medical team’s prenatal clinical testing experiences with WES technology. Dr. Shu-Han You graduated from the Department of Medicine of Chang Gung University and is certified in first trimester examinations by the Fetal Medicine Foundation (FMF). She is currently a research clinician in the Chang Gung Memorial Hospital, Linkou of Chang Gung Medical Foundation. Apart from pregnancy checkups and deliveries, she also writes medical articles on obstetrics and participates in conferences and associated activities. 

Dr. You shared two patient case studies. The first case was a study on the diseases of babies concerning consanguinity and fetal structural abnormality; the second case was focused on the application of an obstetric history with multiple dwarfism cases and sequencing results on later prenatal examinations.

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