Expanded Preconception Carrier Screening in Clinical Practice: Review of Technology, Guidelines, Implementation
Ting Zhang1,2, Jody Madeira3, Yao Lu1,2
1Center for Reproductive Medicine, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, P.R. China.
Abstract:
In the last 10 years, expanded preconception carrier screening has become widely available and helps patients/couples make more informed decisions with regard to their reproductive options and facilitates more effective preconception planning, prenatal diagnosis, condition-specific counseling, and condition-specific care. This review provides an overview of expanded preconception carrier screening's high-throughput genotyping and sequencing approaches, current guidelines, implementation challenges and evolving ethical quandaries.
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