Introduction: Reproductive genetics: bringing clarity to a foreign language

Area of Science:

• Reproductive Medicine and Genetics
• Clinical Genomics
• Genetic Diagnostics

Background:

• Genomic technologies have rapidly integrated into clinical medicine, evolving for preconception and prenatal applications.
• These technologies, including expanded carrier screening and chromosomal microarrays, have transitioned into reproductive endocrinology and infertility specialties.
• Ethical and cost considerations influence the adoption rate of new genetic technologies across disciplines.

Discussion:

• This review examines five disruptive technologies in preimplantation and prenatal genetic services.
• It covers expanded carrier screening (preconception, sperm/egg donation), cell-free DNA screening for fetal aneuploidy, and chromosomal microarray analysis.
• The development of next-generation sequencing and its potential for exome sequencing is also discussed.

Key Insights:

• Expanded carrier screening offers benefits but requires careful consideration in preconception and donation contexts.
• Cell-free DNA screening provides non-invasive prenatal testing for fetal aneuploidies.
• Chromosomal microarray analysis enhances prenatal diagnosis accuracy following invasive procedures.

Outlook:

• Next-generation sequencing facilitates a shift from single variant screening to comprehensive exome sequencing.
• Continued advancements aim to simplify complex genetic testing landscapes.
• Improving knowledge bases is crucial for effective implementation of evolving genomic technologies.