학술논문
Testing for 22q11 microdeletion in 146 fetuses with nuchal translucency above the 99th percentile and a normal karyotype.
Document Type
Journal Article
Author
Source
Subject
*FETUS
*FLUORESCENCE in situ hybridization
*SYNDROMES
*KARYOTYPES
*CHORIONIC villus sampling
*CHROMOSOMES
*FETAL ultrasonic imaging
*EVALUATION of medical care
*GENETIC mutation
*NECK
*PREGNANCY
*FIRST trimester of pregnancy
*PRENATAL diagnosis
*RETROSPECTIVE studies
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Language
ISSN
0001-6349
Abstract
The aim of this study was to examine the value of testing for a 22q11 microdeletion in fetuses with nuchal translucency (NT) above the 99th percentile (>3.5 mm). A 22q11 microdeletion results in the development of 22q11 deletion syndrome, a spectrum of disorders also known as DiGeorge/Velocardiofacial syndrome. A total of 146 pregnancies met the inclusion criteria of NT >3.5 mm between 11+2 and 13+6 weeks' gestation, no structural malformation and normal karyotype. Chorionic villi samples were tested with either multiplex ligation-dependent probe amplification (MLPA) or fluorescent in situ hybridization (FISH) analysis for 22q11 microdeletion. None were diagnosed with the microdeletion. The estimated prevalence of 22q11 microdeletion in these otherwise normal fetuses with increased NT is below 2.7%. [ABSTRACT FROM AUTHOR]