Prenatal microarray comparative genomic hybridization: Experience from the two first years of activity at the Lyon university-hospital

• Published in: Journal of gynecology obstetrics and human reproduction Vol. 46; no. 3; pp. 275 - 283
• Main Authors: Pons, L., Till, M., Alix, E., Abel, C., Boggio, D., Bordes, A., Caloone, J., Raskin, F.C., Chatron, N., Cordier, M.-P., Fichez, A., Labalme, A., Lajeunesse, C., Liaras, É., Massoud, M., Miribel, J., Ollagnon, E., Schluth-Bolard, C., Vichier-Cerf, A., Edery, P., Attia, J., Huissoud, C., Rudigoz, R.C., Massardier, J., Gaucherand, P., Sanlaville, D.
• Format: Journal Article
• Language: English
• Published: France Elsevier Masson SAS 01-03-2017
• Subjects: Abnormal ultrasounds; Adolescent; Adult; Characterization of chromosomal rearrangements; Chromosome Aberrations; Chromosome Disorders - diagnosis; Comparative Genomic Hybridization; Female; France; Hospitals, University; Humans; Microarray comparative genomic hybridization; Pregnancy; Prenatal Diagnosis; Retrospective Studies; Young Adult; France; CPDPN; CNV; MTOP; aCGH; Prenatal diagnosis; Microarray comparative genomic hybridization; IUGR; Mb; DNA; kb; FISH; qPCR; Abnormal ultrasounds; Characterization of chromosomal rearrangements; VOUS
• ISSN: 2468-7847; 2468-7847
• DOI: 10.1016/j.jogoh.2016.11.004

This study aims to describe how microarray comparative genomic hybridization (aCGH) has shifted to become a prenatal diagnosis tool at the Lyon university-hospital.
This retrospective study included all patients who were referred in the 3 pluridisciplinary centers for prenatal diagnosis of the Lyon university-hospital and who received a prenatal aCGH between June 2013 and June 2015. aCGH was systematically performed in parallel with a karyotype, using the PréCytoNEM array design.
A total of 260 microarrays were performed for the following indications: 249 abnormal ultrasounds (95.8%), 7 characterizations of chromosomal rearrangements (2.7%), and 4 twins with no abnormal ultrasounds (1.5%). With a resolution of 1 mega base, we found 235 normal results (90.4%), 23 abnormal results (8.8%) and 2 non-returns (0.8%). For the chromosomal rearrangements visible on the karyotype, aCGH identified all of the 12 unbalanced rearrangements and did not identify the 2 balanced rearrangements. Among the fetuses with normal karyotypes, 11 showed abnormal microarray results, corresponding to unbalanced cryptic chromosomal rearrangements (4.2%).
Transferring aCGH to a prenatal diagnosis at the Lyon university-hospital has increased the detection rate of chromosomal abnormalities by 4.2% compared to the single karyotype.