Prenatal diagnosis

Prenatal diagnosis uses medical tests during pregnancy to assess fetal health or identify genetic and structural conditions before birth.

Prenatal screening: Tests that estimate the chance of a fetal condition without establishing a diagnosis. Screening estimates risk; prenatal diagnosis seeks evidence that can confirm or exclude a condition.
Chromosome: A DNA-protein structure that carries genetic information in a cell. Many prenatal tests look for changes in chromosome number or structure.
Aneuploidy: A chromosome-number state in which a cell has extra or missing chromosomes. Aneuploidies are among the genetic conditions commonly assessed during pregnancy.
Noninvasive prenatal testing: A blood-based screening test that analyzes cell-free DNA to estimate the chance of selected fetal chromosome conditions. Despite its name, this highly accurate screen is not a diagnostic test.
Informed consent: Voluntary agreement to a medical intervention after understanding its purpose, risks, benefits, and alternatives. Prenatal testing should be chosen with an understanding of its limits and possible consequences.
Amniocentesis: A procedure that samples amniotic fluid using a needle inserted through the abdomen. It provides fetal cells and other material for diagnostic testing.
Gene: A DNA sequence that contributes to a functional product or regulates its production. Some prenatal diagnoses identify variants in particular genes rather than chromosome-wide changes.
Down syndrome: A genetic condition usually caused by an extra copy of chromosome 21. It is a common example of a condition assessed by prenatal screening and diagnostic testing.
Preimplantation genetic testing: Genetic testing of embryos created through in vitro fertilization before an embryo is transferred to the uterus. It assesses embryos before pregnancy, unlike prenatal diagnosis during an established pregnancy.
Reproductive autonomy: The ability to make decisions about reproduction without coercion. Whether to test and how to respond to results are decisions shaped by personal values and circumstances.

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