[Contribution of chromosomal microarray analysis by a multidisciplinary prenatal diagnosis center]

Area of Science:

• Cytogenetics
• Prenatal Diagnosis
• Genomic Medicine

Background:

• Array comparative genomic hybridization (array CGH) is a cytogenetic technique increasingly used in prenatal diagnosis.
• Its utility in identifying chromosomal abnormalities in couples undergoing prenatal diagnosis needs further evaluation.

Purpose of the Study:

• To assess the diagnostic contribution of chromosomal analysis by array CGH in a Prenatal Diagnosis and Genetic Counseling Center (CPDPN).
• To evaluate the impact of array CGH findings on pregnancy management and future reproductive decisions.

Main Methods:

• A retrospective cohort study analyzed data from 2015 at a CPDPN.
• Included were 155 patients who underwent array CGH analysis for indications such as increased nuchal translucency (≥3.5mm), ultrasound anomalies, intrauterine growth retardation, and fetal deaths.
• Data were collected from prenatal diagnosis and genetic records.

Main Results:

• Array CGH was performed on 155 patients, representing 36% of those with an indication for invasive sampling.
• Fifteen cases (9.6%) showed positive array CGH results, revealing chromosomal abnormalities undetectable by standard karyotyping.
• These positive findings influenced pregnancy management and future reproductive planning in 54% of affected cases.

Conclusions:

• Array CGH offers significant diagnostic advantages in prenatal diagnosis, detecting clinically relevant chromosomal imbalances.
• Despite interpretation challenges, array CGH findings positively impact patient care and future pregnancy planning.
• Further validation through prospective multicenter studies is recommended.