Increased nuchal translucency with normal karyotype: a follow-up study of 100 cases supplemented with CGH and MLPA analyses
Article first published online: 1 DEC 2009
Copyright © 2009 ISUOG. Published by John Wiley & Sons, Ltd.
Ultrasound in Obstetrics & Gynecology
Volume 34, Issue 6, pages 618–622, December 2009
How to Cite
Schou, K. V., Kirchhoff, M., Nygaard, U., Jørgensen, C. and Sundberg, K. (2009), Increased nuchal translucency with normal karyotype: a follow-up study of 100 cases supplemented with CGH and MLPA analyses. Ultrasound Obstet Gynecol, 34: 618–622. doi: 10.1002/uog.7468
- Issue published online: 1 DEC 2009
- Article first published online: 1 DEC 2009
- Manuscript Accepted: 15 MAY 2009
- increased nuchal translucency;
- normal karyotype;
To evaluate whether high-resolution comparative genomic hybridization (HR-CGH) and subtelomeric and syndrome-specific multiplex ligation-dependent probe amplification (MLPA) would detect minor chromosomal aberrations in fetuses with increased nuchal translucency thickness (NT) and normal karyotype on conventional karyotyping.
Chorionic villus samples from 100 fetuses with NT ≥ 99th percentile and normal G-banding analysis and MLPA for detection of aneuploidies for chromosomes 13, 18, 21, X and Y were included. Examinations were supplemented by HR-CGH and MLPA for syndromes and subtelomeric regions. Pregnancy outcome was followed up.
Among 80 liveborn children who were followed up, three (4%) had syndromes involving mental retardation, including a case of Sotos syndrome caused by a de novo mutation. 15% of fetuses were lost during pregnancy due to abnormalities and termination. The rate of adverse outcome overall was 18%. HR-CGH and MLPA did not detect any chromosomal aberrations associated with the syndromes.
The rate of adverse outcome was similar to levels recorded in the literature. Using CGH and MLPA did not increase the detection rate of genetic disease, which supports the current approach of repeated ultrasound examinations in these high-risk pregnancies. Copyright © 2009 ISUOG. Published by John Wiley & Sons, Ltd.