Title :

Should prenatal chromosomal microarray analysis be offered for isolated fetal growth restriction? A French multicenter study

Author(s) :

Monier, I. [Auteur]
Receveur, A. [Auteur]
Debarge, Veronique [Auteur]
METRICS : Evaluation des technologies de santé et des pratiques médicales - ULR 2694
Goua, V. [Auteur]
Castaigne, V. [Auteur]
Jouannic, J. M. [Auteur]
Mousty, E. [Auteur]
Saliou, A. H. [Auteur]
Bouchghoul, H. [Auteur]
Rousseau, T. [Auteur]
Valat, A. S. [Auteur]
Groussolles, M. [Auteur]
Fuchs, F. [Auteur]
Benoist, G. [Auteur]
Degre, S. [Auteur]
Massardier, J. [Auteur]
Tsatsaris, V. [Auteur]
Kleinfinger, P. [Auteur]
Zeitlin, J. [Auteur]
Benachi, A. [Auteur]

Journal title :

American Journal of Obstetrics and Gynecology

Abbreviated title :

Am J Obstet Gynecol

Volume number :

225

Pages :

p. 676.e1-676.e15

Publication date :

2021-12

ISSN :

1097-6868

English keyword(s) :

chromosomal microarray
copy number variants
karyotype
fetal growth restriction
prenatal diagnosis

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Background Compared with standard karyotype, chromosomal microarray analysis improves the detection of genetic anomalies and is thus recommended in many prenatal indications. However, evidence is still lacking on the ...
Show more >Background Compared with standard karyotype, chromosomal microarray analysis improves the detection of genetic anomalies and is thus recommended in many prenatal indications. However, evidence is still lacking on the clinical utility of chromosomal microarray analysis in cases of isolated fetal growth restriction. Objective This study aimed to estimate the proportion of copy number variants detected by chromosomal microarray analysis and the incremental yield of chromosomal microarray analysis compared with karyotype in the detection of genetic abnormalities in fetuses with isolated fetal growth restriction. Study Design This retrospective study included all singleton fetuses diagnosed with fetal growth restriction and no structural ultrasound anomalies and referred to 13 French fetal medicine centers over 1 year in 2016. Fetal growth restriction was defined as an estimated fetal weight of <tenth percentile for gestational age identified in ultrasound reports. For this analysis, we selected fetuses who underwent invasive genetic testing with karyotype and chromosomal microarray analysis results. Data were obtained from medical records and ultrasound databases and postmortem and placental examination reports in case of spontaneous stillbirths and terminations of pregnancy. Following the American College of Medical Genetics and Genomics guidelines, copy number variants were classified into 5 groups as following: pathogenic, likely pathogenic, variant of unknown significance, likely benign, and benign. Results Of 682 referred fetuses diagnosed with isolated fetal growth restriction, both karyotype and chromosomal microarray analysis were performed in 146 fetuses. Overall, the detection rate of genetic anomalies found by chromosomal microarray analysis was estimated to be 7.5% (11 of 146 [95% confidence interval, 3.3–11.8]), including 10 copy number variants classified as pathogenic and 1 copy number variant classified as likely pathogenic. Among the 139 fetuses with normal karyotype, 5 were detected with pathogenic and likely pathogenic copy number variants, resulting in an incremental yield of 3.6% (95% confidence interval, 0.5–6.6) in chromosomal microarray analysis compared with karyotype. All fetuses detected with pathogenic or likely pathogenic copy number variants resulted in terminations of pregnancy. In addition, 3 fetuses with normal karyotype were detected with a variant of unknown significance (2.1%). Among the 7 fetuses with abnormal karyotype, chromosomal microarray analysis did not detect trisomy 18 mosaicism in all fetuses. Conclusion Our study found that compared with karyotype, chromosomal microarray analysis improves the detection of genetic anomalies in fetuses diagnosed with isolated fetal growth restriction. These results support the use of chromosomal microarray analysis in addition to karyotype for isolated fetal growth restriction.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille
CHU Lille

Collections :

• METRICS : Evaluation des technologies de santé et des pratiques médicales - ULR 2694

Submission date :

2023-11-15T06:28:43Z
2024-04-08T13:05:17Z
2024-04-08T13:19:42Z