The authors have stated explicitly that there are no conflicts of interest in connection with this article.
Main Research Article
Prenatal diagnosis: array comparative genomic hybridization in fetuses with abnormal sonographic findings
Article first published online: 9 MAY 2013
© 2013 Nordic Federation of Societies of Obstetrics and Gynecology
Acta Obstetricia et Gynecologica Scandinavica
Volume 92, Issue 7, pages 762–768, July 2013
How to Cite
Prenatal diagnosis: array comparative genomic hybridization in fetuses with abnormal sonographic findings. Acta Obstet Gynecol Scand 2013; 92:762–768., , , .
- Issue published online: 18 JUN 2013
- Article first published online: 9 MAY 2013
- Accepted manuscript online: 16 APR 2013 09:26AM EST
- Manuscript Accepted: 10 APR 2013
- Manuscript Received: 21 JUN 2012
- Array comparative genomic hybridization;
- prenatal diagnosis;
- prenatal ultrasonography;
- genomic imbalance
To evaluate the clinical value of a high-resolution whole-genome array method for examination of genomic imbalances in prenatal samples (46 amniotic fluid, 17 chorionic villus, and 26 products of conception) from fetuses with abnormal ultrasound, in a clinical setting where more than 90% of pregnant women receive first-trimester combined screening and a second-trimester anomaly scan.
Fetal medicine units (national healthcare system) in Central and North Denmark Regions from March 2009 to April 2012.
Eighty-nine samples obtained at 11.5–35.0 (mean 19.3) gestational weeks, either during ongoing pregnancy or after termination.
DNA was extracted directly from amniotic fluid cells and chorionic villus samples, or from cultured cells, and examined with 80-kb resolution oligonucleotide array-based comparative genomic hybridization (aCGH).
Main outcome measures
Clinically significant copy number variations identified by aCGH.
We detected clinically significant copy number variations in 11 fetuses (12%, confidence interval 6.0–19%) with structural malformations. Three fetuses (3.4%) had uncertain clinical significant variations and incidental findings.
aCGH is a valuable diagnostic tool when fetal malformations are detected. More affected fetuses may be diagnosed at an earlier gestational age providing better possibilities for postnatal treatment and allowing for women to decide earlier on termination of pregnancy. When a normal result has reduced the risk of significant chromosomal aberration, aCGH may facilitate parental decision-making on whether to continue the pregnancy.