Reproductive Genetics Glossary

Failure to amplify one allele during PCR, potentially causing misdiagnosis in genetic testing.

A molecular technique using short DNA probes that bind only to perfectly matched target sequences.

Phenomenon where different mutations in the same gene cause variable clinical presentations of a genetic condition.

Diagnostic procedure involving needle aspiration of amniotic fluid to test for fetal genetic abnormalities, typically pe...

An embryo or fetus with an abnormal number of chromosomes.

Abnormal chromosome number in cells, resulting from errors in chromosome segregation during meiosis or mitosis.

A genetic phenomenon where a condition becomes more severe or has earlier onset in successive generations of a family.

Laboratory technique to create an opening in the embryo's protective shell to facilitate implantation.

Inheritance pattern where both copies of a gene must carry pathogenic variants for disease expression. Affects males and...

Chromosomal rearrangement where two non-homologous chromosomes exchange segments without loss of genetic material.

Chromosomal rearrangement where genetic material is exchanged between chromosomes without loss or gain of genetic materi...

Day 5-6 embryo stage characterized by inner cell mass and trophectoderm formation.

Procedure to remove cells from the outer layer of a 5-6 day embryo for genetic testing. Distinguished from earlier-stage...

Individual cell within an early-stage embryo, typically biopsied on day 3 for genetic testing.

Genetic testing to identify individuals who carry one copy of a gene mutation for recessive disorders, performed before...

Circulating DNA fragments in maternal blood used for non-invasive prenatal screening.

High-resolution genetic test that detects submicroscopic chromosomal deletions and duplications. First-line test for dev...

Individual carrying two different pathogenic variants in the same gene. Results in recessive disorder despite having dif...

The degree to which genetic test results agree between different testing methods or between twins for a particular trait...

A condition where chromosomal abnormalities are present in placental tissue but not in the fetus itself.

Reproduction between individuals who share recent common ancestors.

Blood relationship between individuals, particularly relevant in reproductive genetics when assessing increased risk of...

Hormonal treatment protocol to stimulate multiple follicle development for IVF cycles.

Chromosomal segment that varies in copy number between individuals. May be pathogenic, benign, or of uncertain significa...