Matthew Hoi Kin Chau , Mahesh Choolani , Zirui Dong , Ye Cao , Kwong Wai Choy
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引用次数: 0
Abstract
Prenatal genetic diagnosis has undergone two pivotal paradigm shifts, initially with the introduction of chromosomal microarray and subsequently with the advent of next-generation sequencing technologies (NGS). NGS technology has given rise to a multitude of applications, with gene panels, exome sequencing (ES), and genome sequencing (GS) emerging as highly promising tests for prenatal genetic investigations. These advanced approaches have demonstrated superior diagnostic rates when compared to conventional testing methods, showcasing the evolution and enhancement of prenatal genetic screening and diagnostic capabilities. With these ground-breaking innovations, NGS technologies have the potential to replace current standard practice in prenatal diagnosis. With the increasing use of prenatal sequencing, the need for better education and guidance on their applications grows. This chapter aims to illustrate the detection scope and feasibility of various NGS-based methods that are currently used in prenatal diagnosis.
期刊介绍:
In practical paperback format, each 200 page topic-based issue of Best Practice & Research Clinical Obstetrics & Gynaecology will provide a comprehensive review of current clinical practice and thinking within the specialties of obstetrics and gynaecology.
All chapters take the form of practical, evidence-based reviews that seek to address key clinical issues of diagnosis, treatment and patient management.
Each issue follows a problem-orientated approach that focuses on the key questions to be addressed, clearly defining what is known and not known. Management will be described in practical terms so that it can be applied to the individual patient.