Fetal and Maternal Medicine Review

Research Article

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

LISA G SHAFFERa1 and DAVID CHITAYATa2a3 c1

a1 Signature Genomic Laboratories, Spokane, WA, USA

a2 The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada

a3 Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada

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.

(Online publication December 02 2010)

Correspondence:

c1 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