[New molecular methods in prenatal invasive diagnostics]

Area of Science:

• Genetics
• Molecular Biology
• Medical Diagnostics

Context:

• Prenatal diagnosis relies on identifying genetic abnormalities in fetuses.
• Chromosomal numerical aberrations (aneuploidies) are the most common genetic changes detected prenatally.
• Traditional cytogenetic methods, while reliable, can be time-consuming.

Purpose:

• To review and present the latest molecular and molecular-cytogenetic techniques for prenatal genetic diagnosis.
• To highlight methods for detecting common chromosome numerical changes, structural aberrations, and gene mutations.
• To emphasize the advantage of reduced turnaround times offered by novel diagnostic approaches.

Summary:

• New techniques including Fluorescence Quantitive Polymerase Chain Reaction (QF-PCR), Multiplex Ligation-dependent Probe Amplification (MLPA), and microarray Comparative Genomic Hybridization (CGH) enable rapid prenatal genetic analysis.
• Next-generation DNA sequencing (NGS) and BACS-on-Beads (BoBs) are emerging methods for comprehensive genomic and molecular-cytogenetic evaluation.
• These advanced methods offer significantly shorter diagnostic periods compared to conventional karyotyping.

Impact:

• Accelerated diagnosis of fetal chromosomal aneuploidies can lead to timely clinical decision-making.
• The adoption of these rapid techniques has the potential to become standard practice in prenatal diagnosis, particularly for specific clinical indications.
• Improved diagnostic capabilities enhance the management of pregnancies with suspected genetic conditions.