Reproductive Genetics Glossary

Genetic condition where one functional copy of a gene is insufficient for normal function.

Evolutionary phenomenon where carriers of one copy of a genetic mutation have selective advantages, explaining persisten...

Assisted reproductive technique where a single sperm is directly injected into an egg.

Family pedigree configuration that allows genetic analysis and risk assessment.

Group of cells within a blastocyst that develops into the fetus, as opposed to the trophectoderm which becomes the place...

A visual representation of an individual's complete set of chromosomes, arranged by size and structure, used to identify...

Hormonal supplementation following embryo transfer to maintain pregnancy viability.

Increased risk of chromosomal abnormalities in offspring with advancing maternal age.

Presence of maternal cells in fetal samples that can lead to false-negative results in prenatal genetic testing.

Presence of maternal DNA in fetal samples that can lead to false-negative results in genetic testing. Critical quality c...

Blood tests performed during pregnancy to assess the risk of chromosomal abnormalities and neural tube defects in the fe...

Chromosomes arranged in a single plane during cell division, optimal for cytogenetic analysis.

High-resolution genetic testing method that detects submicroscopic chromosomal deletions and duplications not visible on...

Pattern of inheritance for genes located in mitochondrial DNA, transmitted maternally.

Reproductive technique to prevent transmission of mitochondrial diseases by replacing defective mitochondria.

Time-lapse embryo monitoring technique that tracks developmental timing patterns to predict embryo viability and genetic...

The presence of two or more genetically different cell lines within a single individual, occurring due to errors in cell...

A pattern of inheritance involving multiple genes combined with environmental factors that together contribute to a trai...

Non-invasive prenatal screening test using maternal blood to detect fetal chromosomal abnormalities through analysis of...

Genetic counseling approach that provides information without influencing patient decisions.

A sonographic measurement of fluid accumulation behind the fetal neck used in first-trimester screening for chromosomal...

Individual who must carry a pathogenic variant based on pedigree analysis, regardless of testing status. Key concept in...

An individual who must carry a specific allele based on pedigree analysis.

Surgical procedure to collect mature eggs from ovarian follicles during IVF treatment.