Reproductive Genetics Glossary

Potentially serious complication of fertility treatment characterized by enlarged ovaries and fluid accumulation.

A relationship between parents who share common ancestors, increasing the risk of autosomal recessive disorders in their...

Genetic change that causes or predisposes to disease. Highest level of clinical significance in variant classification s...

Systematic evaluation of family medical history using standardized symbols to trace inheritance patterns of genetic cond...

The proportion of individuals with a specific genetic variant who actually express the associated phenotype or clinical...

Preimplantation genetic testing for aneuploids, screening embryos for chromosomal abnormalities before transfer.

Preimplantation genetic testing for monogenic disorders, testing embryos for specific inherited conditions.

Preimplantation genetic testing for structural chromosomal rearrangements to identify embryos with balanced chromosome c...

A genetic testing method that analyzes the polar bodies extruded during oocyte maturation to infer the genetic status of...

Genetic consultation provided before conception to assess reproductive risks and discuss testing options. Focuses on fam...

Genetic analysis of embryos before transfer during IVF to screen for chromosomal abnormalities or specific genetic condi...

Apparent mosaicism in cell culture that does not reflect the true genetic status of the individual.

A chromosome formed by crossing over between homologous chromosomes during meiosis.

Percentage of offspring showing recombination between two genetic loci.

Probability that a genetic condition will occur again in future pregnancies or family members. Central concept in geneti...

Individual's right to make independent decisions about reproductive choices and family planning.

An organism's ability to survive and produce viable offspring that can themselves reproduce.

Chromosomal rearrangement where two acrocentric chromosomes join at their centromeres. Major cause of recurrent pregnanc...

Gain or loss of a chromosome segment rather than entire chromosomes.

Continuous imaging technology that tracks embryo development without removing embryos from optimal culture conditions.

Abnormal lengthening of three-nucleotide DNA sequences causing genetic disorders.

A chromosomal condition where there are three complete sets of chromosomes (69 total) instead of the normal two sets (46...

Procedure to remove cells from the outer layer of a blastocyst embryo for genetic testing without damaging the inner cel...

A condition where both copies of a chromosome pair are inherited from the same parent instead of one from each parent.