[Medical genetics in reproductive medicine]

Area of Science:

• Reproductive genetics (RG) as an emerging field merging reproductive medicine, assisted reproduction, and developmental genetics.
• Integration of RG with perioconceptional prevention, perinatology, and screening methods (ultrasound, biochemical).
• RG encompasses genetic counseling, cytogenetics, and molecular genetics for comprehensive diagnostics.

Context:

• RG is closely linked to prenatal screening, including first and second-trimester ultrasound and biochemical tests.
• A specialized healthcare system, ideally in an integrated RG and reproductive medicine center, is presented.
• Reproductive medicine services include gynecological/andrological surveillance, assisted reproduction, and advanced obstetrical imaging.

Purpose:

• To summarize six years of experience in Reproductive Genetics.
• To present an integrated healthcare system for Reproductive Genetics and Reproductive Medicine.
• To offer specialized genetic counseling and cytogenetic analysis for individuals with reproductive disorders and oocyte donors.

Summary:

• Chromosome anomalies are detected in 6% of men with abnormal sperm analysis and women with reproductive disorders.
• Molecular genetic testing (Y chromosome microdeletions, CFTR gene mutations, thrombophilic mutations) is recommended for specific reproductive issues.
• Advanced techniques like laser biopsy for FISH analysis and quantitative fluorescent PCR (QFPCR) are utilized for aneuploidy detection and fetal sex determination.

Impact:

• Identifies genetic anomalies in infertile males and females, guiding targeted interventions.
• Provides molecular genetic insights into recurrent abortions and IVF failures.
• Improves prenatal diagnosis through advanced screening, genetic testing, and integrated care, enhancing fetal medicine and therapy.