Reproductive Genomics: Revolutionizing Fertility

A set of vocabulary flashcards related to key concepts in reproductive genomics.

Reproductive Genomics

The application of genetic and genomic technologies to study and improve human reproduction.

Next-Generation Sequencing (NGS)

Rapidly sequences large amounts of DNA to identify genetic variants.

Expanded Carrier Screening

Tests individuals or couples for over 200 recessive or X-linked disorders to assess risk before pregnancy.

In Vitro Fertilization (IVF)

Integrates genetic testing with assisted reproductive technology.

Preimplantation Genetic Testing (PGT)

Tests embryos from IVF for genetic conditions before implantation.

Non-Invasive Prenatal Testing (NIPT)

Screens for common aneuploidies like Down syndrome using a simple maternal blood draw.

Aneuploidy

An abnormal number of chromosomes in a cell.

Genetic Selection

Concerns over selecting embryos based on desired traits, potentially leading to 'designer babies'.

Ethical Considerations

Issues surrounding the implications of reproductive technologies, including equity, access, and informed consent.

Whole-Genome Sequencing

Comprehensive analysis of the entire genetic code to find the cause of complex disorders.

Rapid Genomic Sequencing

Provides timely diagnosis for critically ill newborns with suspected genetic disorders.

Chromosomal Microarray (CMA)

Detects small-scale chromosomal gains and losses (copy-number variants).

Postnatal Diagnostics

Rapid diagnosis and care for newborns using genetic testing.

Informed Consent

Ensuring that prospective parents understand the implications of genetic testing choices.

Equity and Access

Concerns that high costs of genomic technologies could increase health disparities.

Genetic Counseling

Providing support and information to patients regarding genetic testing and implications.