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Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France
- Source :
- Prenatal Diagnosis, Prenatal Diagnosis, Wiley, 2019, 39 (6), pp.464-470. ⟨10.1002/pd.5449⟩
- Publication Year :
- 2019
- Publisher :
- HAL CCSD, 2019.
-
Abstract
- International audience; Objectives Congenital heart defects (CHDs) may be isolated or associated with other malformations. The use of chromosome microarray (CMA) can increase the genetic diagnostic yield for CHDs by between 4% and 10%. The objective of this study was to evaluate the value of CMA after the prenatal diagnosis of an isolated CHD. Methods In a retrospective, nationwide study performed in France, we collected data on all cases of isolated CHD that had been explored using CMAs in 2015. Results A total of 239 fetuses were included and 33 copy number variations (CNVs) were reported; 19 were considered to be pathogenic, six were variants of unknown significance, and eight were benign variants. The anomaly detection rate was 10.4% overall but ranged from 0% to 16.7% as a function of the isolated CHD in question. The known CNVs were 22q11.21 deletions (n = 10), 22q11.21 duplications (n = 2), 8p23 deletions (n = 2), an Alagille syndrome (n = 1), and a Kleefstra syndrome (n = 1). Conclusion The additional diagnostic yield was clinically significant (3.1%), even when anomalies in the 22q11.21 region were not taken into account. Hence, patients with a suspected isolated CHD and a normal karyotype must be screened for chromosome anomalies other than 22q11.21 duplications and deletions.
- Subjects :
- 0301 basic medicine
Adult
Heart Defects, Congenital
medicine.medical_specialty
Microarray
DNA Copy Number Variations
Prenatal diagnosis
030105 genetics & heredity
ULTRASOUND FINDINGS
FREQUENCY
Chromosomes
03 medical and health sciences
0302 clinical medicine
Fetus
Pregnancy
Internal medicine
Prenatal Diagnosis
Alagille syndrome
medicine
Humans
Copy-number variation
Genetic Testing
PRENATAL-DIAGNOSIS
[SDV.BDD]Life Sciences [q-bio]/Development Biology
Genetics (clinical)
Kleefstra Syndrome
Retrospective Studies
Chromosome Aberrations
Comparative Genomic Hybridization
030219 obstetrics & reproductive medicine
business.industry
ABNORMALITIES
Obstetrics and Gynecology
Chromosome
Karyotype
[SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology
Syndrome
medicine.disease
Microarray Analysis
3. Good health
COPY NUMBER
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Karyotyping
Female
France
business
HYBRIDIZATION
Subjects
Details
- Language :
- English
- ISSN :
- 01973851 and 10970223
- Database :
- OpenAIRE
- Journal :
- Prenatal Diagnosis, Prenatal Diagnosis, Wiley, 2019, 39 (6), pp.464-470. ⟨10.1002/pd.5449⟩
- Accession number :
- edsair.doi.dedup.....8decd4270286b823269f105dcfe129f6