Reproductive Genetics Glossary

The egg surrounded by its supporting cumulus cells at the time of ovulation.

Prenatal diagnostic procedure involving sampling of placental tissue (chorionic villi) for genetic analysis, typically p...

Genetic test that screens for specific common mutations in the CFTR gene to determine cystic fibrosis carrier status.

New genetic variant that arises spontaneously and is not inherited from either parent. Often associated with advanced pa...

Removal of cells from an embryo for genetic testing before implantation.

The process of freezing and storing embryos for future use in reproductive treatments.

Systematic assessment of embryo appearance and developmental features for selection in assisted reproduction.

Ultra-rapid freezing technique for embryo cryopreservation that prevents ice crystal formation and maintains cellular in...

A genetic condition that causes death during embryonic or fetal development.

The uterine lining's readiness to accept and support embryo implantation.

Transfer of a single embryo selected for optimal developmental potential to minimize multiple pregnancy risk.

Genetic testing that screens for carrier status of multiple genetic conditions simultaneously, typically performed befor...

The range and severity of clinical manifestations observed in individuals who carry the same genetic variant.

Percentage of cell-free fetal DNA in maternal blood plasma. Critical parameter for non-invasive prenatal testing accurac...

Fluorescence-based genetic testing technique used to detect specific chromosomal abnormalities in embryos or fetal cells...

A genetic variant that is common in a population due to descent from a small number of ancestors.

IVF approach where all viable embryos are cryopreserved rather than transferred fresh.

Transfer of newly created embryos during the same IVF cycle as oocyte retrieval.

Occurrence of similar phenotypes caused by mutations in different genes.

An epigenetic phenomenon where gene expression depends on whether the gene was inherited from the mother or father.

Process of determining clinical significance of genetic changes identified through sequencing. Follows standardized clas...

Presence of genetically distinct cell lines within the reproductive cells of an individual.

Presence of genetically different cell populations within reproductive organs, potentially leading to multiple affected...

Mosaicism affecting the sex chromosomes (X or Y) rather than autosomes.