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Prenatal Testing Procedures

RJ McKinlay Gardner, David J Amor

Oxford University Press | Published : 2018

Abstract

This chapter is somewhat technical; it reviews the laboratory methodologies by which a prenatal diagnosis can be made and the clinical procedures whereby tissue is obtained. The main indications for prenatal cytogenetic diagnosis are the pregnant woman being of older childbearing age, parental heterozygosity for a chromosome rearrangement, the birth of a previous child with a chromosome defect, increased risk on maternal screening tests, and fetal anomaly detected on ultrasonography. The move to molecular methodology is noted. The remarkable advances in NIPT (noninvasive prenatal testing), such that this approach has now become routinely available, are canvassed. The chapter briefly discusse..

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