[Fetal chromosome technique by microarray-based comparative genomic hybridization].

Area of Science:

• Genomics
• Clinical Diagnostics
• Medical Genetics

Context:

• Array comparative genomic hybridization (aCGH) is an emerging clinical tool for genome-wide screening of segmental copy number variations (CNVs).
• aCGH is increasingly adopted for detecting CNVs in individuals with developmental disorders and congenital anomalies, often replacing traditional cytogenetic methods.
• Its application as a prenatal test promises rapid and frequent identification of fetal genomic imbalances.

Purpose:

• To evaluate the utility of aCGH in diagnosing fetuses with multiple malformations.
• To assess the potential of aCGH as a prenatal diagnostic tool for fetal genomic imbalances.
• To discuss the implications of uncertain CNV findings in prenatal settings.

Summary:

• Recent data on aCGH use in fetuses from spontaneous or terminated pregnancies with multiple malformations are presented.
• aCGH is proposed as a diagnostic aid to enhance genetic counseling in fetopathology.
• The article reviews current aCGH applications in prenatal testing, highlighting the need for larger studies with targeted arrays.

Impact:

• aCGH can improve the diagnosis of genetic disorders in fetuses, aiding in genetic counseling.
• The study addresses concerns regarding the clinical significance of uncertain CNVs detected prenatally.
• Further research is required to validate aCGH's role in prenatal diagnosis and its overall detection rates for chromosomal abnormalities.