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CHROMOSOMAL MICROARRAYS: THE BENEFITS AND CHALLENGES OF INTRODUCTION INTO PRENATAL DIAGNOSIS

Part of: Bespoke shallow archive Weizmann

Published online by Cambridge University Press:  02 December 2010

LISA G SHAFFER  and
DAVID CHITAYAT
LISA G SHAFFER
Affiliation:
Signature Genomic Laboratories, Spokane, WA, USA
DAVID CHITAYAT*
Affiliation:
The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
*
David Chitayat, Department of Obstetrics and Gynecology, Mount Sinai Hospital, The Ontario Power Generation Building, 700 University Avenue, Room 3292, M5G 1Z5, Toronto, Ontario, Canada. E-mail: dchitayat@mtsinai.on.ca
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Extract

Invasive prenatal testing, amniocentesis and chorionic villus sampling, has been used for over four decades to identify fetal genetic disorders. The most common test after obtaining fetal tissues is chromosome analysis, performed for a variety of medical indications including abnormal ultrasound findings, advanced maternal age and an abnormal screen for Down syndrome. About 2% of pregnancies in women over the age of 35 will show a chromosome abnormality, with trisomy 21 being the most common. In addition to Down syndrome, the most commonly observed trisomies are those of chromosomes 13 and 18. Numerical abnormalities of the sex chromosomes are also relatively common, as well as triploidy.

Type
Research Article
Information
Fetal and Maternal Medicine Review , Volume 21 , Issue 4 , November 2010 , pp. 307 - 322
Copyright
Copyright © Cambridge University Press 2010

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