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Purpose: To evaluate fetal development and detect anomalies. Considerations: Non-invasive, routine screening, but not definitive for diagnosing genetic conditions.

Purpose: To determine whether an individual is a carrier for specific inherited disorders. Considerations: Provides reproductive information but requires understanding of inheritance patterns and potential implications.

Purpose: To identify the presence of a dominant mutant gene that results in a genetic disorder. Considerations: Requires understanding of the 50% risk of inheritance per offspring, and often necessitates family history analysis.

Purpose: To diagnose fetal chromosomal or genetic disorders. Considerations: Invasive with a higher risk of miscarriage than amniocentesis, typically performed between weeks 10 and 13 of pregnancy.

Purpose: To detect genetic defects in embryos created through in vitro fertilization (IVF) before pregnancy. Considerations: Only for IVF embryos, can prevent transmission of a known genetic disorder.

Purpose: To inform and guide individuals and families about genetic risks. Considerations: Focuses on communication of risk, support for families, and discussion of testing options.

Purpose: To detect chromosomal abnormalities in the fetus. Considerations: Invasive procedure with a small risk of miscarriage, usually performed between weeks 15 and 20 of pregnancy.

Purpose: To analyze the number and structure of chromosomes. Considerations: Invasive if fetal cells are required, can provide detailed information about chromosomal abnormalities.

Purpose: To identify carriers and affected individuals for recessive genetic disorders. Considerations: Two carrier parents have a 25% risk of having an affected child with each pregnancy.

Purpose: To screen for trisomies such as Down, Edwards, and Patau syndromes. Considerations: Non-invasive and conducted through maternal blood testing usually after week 10 of pregnancy.

Purpose: To test newborns for certain genetic, metabolic, hormonal, and functional disorders. Considerations: Aimed at early detection and treatment to prevent disability or death.

Purpose: To measure enzyme activity or levels of proteins and metabolites. Considerations: Diagnostic for some metabolic disorders, not all genetic diseases can be detected this way.

Purpose: To detect disorders associated with genes on the X chromosome. Considerations: Important for diseases that affect males more commonly due to the presence of only one X chromosome.

Purpose: To detect specific mutations in a gene known to cause a genetic disorder. Considerations: Requires prior knowledge of the specific mutation, utilized for confirmation of diagnoses.