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Screening for chromosomal defects
Author(s) -
Nicolaides K. H.
Publication year - 2003
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.128
Subject(s) - medicine , miscarriage , trisomy , pregnancy , obstetrics , test (biology) , advanced maternal age , risk assessment , gestational age , fetus , genetics , paleontology , computer security , computer science , biology
Chromosomal abnormalities are major causes of perinatal death and childhood handicap. Consequently, the detection of chromosomal disorders constitutes the most frequent indication for invasive prenatal diagnosis. However, invasive testing, by amniocentesis, chorionic villus sampling (CVS) or cordocentesis, is associated with a risk of miscarriage of about 1% and therefore these tests are carried out only in pregnancies considered to be at high-risk for chromosomal defects. The methods of screening to identify the high-risk group are maternal age, ultrasound findings at 11–14 weeks and/or in the second trimester and maternal serum biochemical testing at 11–14 weeks and/or in the second trimester.