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Chapter-06 Prenatal Biochemical Screening

BOOK TITLE: An Introduction to Genetics and Fetal Medicine

Author
1. Puri Ratna Dua
ISBN
9788184489606
DOI
10.5005/jp/books/11186_6
Edition
2/e
Publishing Year
2010
Pages
6
Author Affiliations
1. Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India, Center for Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India, Ganga Ram Institute of Postgraduate Medical Education and Research, Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India, Ganga Ram Institute of Postgraduate Medical Education and Research, New Delhi, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India, Ganga Ram Institute of Postgraduate Medical Education and Research; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India, The Ganga Ram Institute for Postgraduate Medical Education and Research (GRIPMER); Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India
Chapter keywords

Abstract

Screening tests to identify fetuses at risk for aneuploidies such as trisomy 21, 13, and 18 as well as neural tube defects should be offered to all pregnant women. Maternal age of over 35 years is no longer accepted as a cut off to offer screening tests to pregnant women. The Practice Bulletin from the American College of Obstetricians and Gynecologists has eliminated the age 35 cut-off and recommends that a choice between screening and invasive testing should be made available to women regardless of age. Screening strategies moves from the second to the first trimester along with the newer patterns of sequential and contingent screening have allowed higher detection rates of Down’s syndrome to over 90% with a concomitant decrease in the number of women subjected to invasive testing. However, it is important to realize the significance of a correctly performed nuchal translucency measurement by trained personnel and proper standardization of laboratories performing the biochemical testing for accurate results. New ultrasound and biochemical markers on the horizon will vastly improve the sensitivity of these screening tests in the coming future. In the light of all these advances, an informed choice of the woman remains the mainstay of the antenatal screening programs.

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