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Chapter-19 Noninvasive Prenatal Diagnosis from Fetal DNA in Maternal Circulation

BOOK TITLE: An Introduction to Genetics and Fetal Medicine

Author
1. Kabra Madhulika
2. Arora Sadhna
ISBN
9788184489606
DOI
10.5005/jp/books/11186_19
Edition
2/e
Publishing Year
2010
Pages
4
Author Affiliations
1. All India Institute of Medical Sciences, New Delhi, India, AIIMS, New Delhi, India, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India, All India Institute of Medical Sciences Ansari Nagar, New Delhi, India, All India Institute of Medical Sciences, New Delhi 110029, India, All India Institute of Medical Sciences, New Delhi, All India Institute of Medical Sciences (AIIMS), New Delhi, India, New Delhi, All India Institutes of Medical Sciences (AIIMS), New Delhi, India
2. All India Institute of Medical Sciences, New Delhi, India
Chapter keywords

Abstract

Prenatal diagnosis is an important modality for preventing birth of babies with lethal, life limiting and incurable disorders. Genetic disorders that are of major concern include chromosomal aneuploidies and several single-gene disorders. Definitive prenatal diagnosis of these conditions requires the analysis of fetal sample, which is obtained through invasive procedures such as amniocentesis, chorionic villus sampling and cordocentesis. These procedures have a small but definite risk of fetal loss. In view to avoid this risk, scientists have been working for noninvasive alternatives to obtain and test fetal genetic material. There are two sources of fetal genetic material in maternal blood, fetal cells and circulating fetal DNA in maternal plasma. The noninvasive detection of some of the fetal traits like RhD status and fetal sex has proved very robust and is in routine use in some developed countries but there are many challenges ahead for diagnosis of single gene disorders and aneuploides, before the technique can be taken from bench to bedside.

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