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Prenat Diagn. 2015 Aug;35(8):801-9. doi: 10.1002/pd.4613. Epub 2015 Jun 24.

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies.

Author information

1
TOMA Advanced Biomedical Assays S.p.A, Busto Arsizio, Italy.
2
CHI Poissy St Germain, Département de Cytogénétique, Obstétrique et Gynécologie, Poissy, France.
3
1st Department of Obstetrics and Gynecology, Medical University of Warsaw, Poland.
4
Unité de Cytogénétique-Département de Génétique, Hôpital Robert Debré-AP-HP, GHU Nord, Paris, France.
5
Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
6
CHU de Clermont Ferrand, Unit of Cytogenetics, Clermont Ferrand, France.
7
United Medix Laboratories Ltd., Department of Genetics, Helsinki, Finland.
8
Chinese University of Hong Kong, Department of Obstetrics and Gynecology, Hong Kong, China.
9
iGenomix, PGD Molecular Cytogenetics Lab., Valencia, Spain.
10
CGC Genetics, Laboratory of Cytogenetics, Madrid, Spain.
11
Cytogenetic Unit, Department of Pathology and Genetics, Pomeranian Medical University, Szczecin, Poland.
12
University 'Federico II', Department of Molecular Medicine and Medical Biotechnology, Naples, Italy.
13
Hospital General de México Eduardo Liceaga-Facultada de Medicina UNAM, NanoLab, Mexico, Mexico.
14
UPCG, UVSQ, Versaille, France.

Abstract

OBJECTIVES:

The implementation of chromosomal microarray analysis (CMA) in prenatal testing for all patients has not achieved a consensus. Technical alternatives such as Prenatal BACs-on-Beads(TM) (PNBoBs(TM) ) have thus been applied. The aim of this study was to provide the frequencies of the submicroscopic defects detectable by PNBoBs(TM) under different prenatal indications.

METHODS:

A total of 9648 prenatal samples were prospectively analyzed by karyotyping plus PNBoBs(TM) and classified by prenatal indication. The frequencies of the genomic defects and their 95%CIs were calculated for each indication.

RESULTS:

The overall incidence of cryptic imbalances was 0.7%. The majority involved the DiGeorge syndrome critical region (DGS). The additional diagnostic yield of PNBoBs(TM) in the population with a low a priori risk was 1/298. The prevalences of DGS microdeletion and microduplication in the low-risk population were 1/992 and 1/850, respectively.

CONCLUSIONS:

The constant a priori risk for common pathogenic cryptic imbalances detected by this technology is estimated to be ~0.3%. A prevalence higher than that previously estimated was found for the 22q11.2 microdeletion. Their frequencies were independent of maternal age. These data have implications for cell-free DNA screening tests design and justify prenatal screening for 22q11 deletion, as early recognition of DGS improves its prognosis.

PMID:
25962607
DOI:
10.1002/pd.4613
[Indexed for MEDLINE]

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