Amniocentesis: A procedure in which amniotic fluid and cells are taken from the uterus for testing. The procedure uses a needle to withdraw fluid and cells from the sac that holds the fetus.
Aneuploidy: Having an abnormal number of chromosomes. Types include trisomy, in which there is an extra chromosome, or monosomy, in which a chromosome is missing. Aneuploidy can affect any chromosome, including the sex chromosomes. Down syndrome (trisomy 21) is a common aneuploidy. Others are Patau syndrome (trisomy 13) and Edwards syndrome (trisomy 18).
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Carrier Screening: A test done on a person without signs or symptoms to find out whether he or she carries a gene for a genetic disorder.
Cell-Free DNA: DNA from the placenta that moves freely in a pregnant woman’s blood. Analysis of this DNA can be done as a noninvasive prenatal screening test.
Cells: The smallest units of a structure in the body. Cells are the building blocks for all parts of the body.
Chorionic Villus Sampling (CVS): A procedure in which a small sample of cells is taken from the placenta and tested.
Chromosomes: Structures that are located inside each cell in the body. They contain the genes that determine a person’s physical makeup.
Cystic Fibrosis (CF): An inherited disorder that causes problems with breathing and digestion.
Diagnostic Tests: Tests that look for a disease or cause of a disease.
DNA: The genetic material that is passed down from parent to child. DNA is packaged in structures called chromosomes.
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Down Syndrome (Trisomy 21): A genetic disorder that causes abnormal features of the face and body, medical problems such as heart defects, and mental disability. Most cases of Down syndrome are caused by an extra chromosome 21 (trisomy 21).
Edwards Syndrome (Trisomy 18): A genetic condition that causes serious problems. It causes a small head, heart defects, and deafness.
Fetus: The stage of human development beyond 8 completed weeks after fertilization.
Genes: Segments of DNA that contain instructions for the development of a person’s physical traits and control of the processes in the body. The gene is the basic unit of heredity and can be passed from parent to child.
Genetic Counselor: A health care professional with special training in genetics who can provide expert advice about genetic disorders and prenatal testing.
Genetic Disorders: Disorders caused by a change in genes or chromosomes.
Inherited Disorders: Disorders caused by a change in a gene that can be passed from parents to children.
Monosomy: A condition in which there is a missing chromosome.
Mutations: Changes in genes that can be passed from parent to child.
Neural Tube Defects (NTDs): Birth defects that result from a problem in development of the brain, spinal cord, or their coverings.
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Nuchal Translucency Screening: A test to screen for certain birth defects, such as Down syndrome, Edwards syndrome, or heart defects. The screening uses ultrasound to measure fluid at the back of the fetus’s neck.
Obstetrician: A doctor who cares for women during pregnancy and their labor.
Patau Syndrome (Trisomy 13): A genetic condition that causes serious problems. It involves the heart and brain, cleft lip and palate, and extra fingers and toes.
Placenta: An organ that provides nutrients to and takes waste away from the fetus.
Screening Tests: Tests that look for possible signs of disease in people who do not have signs or symptoms.
Sex Chromosomes: The chromosomes that determine a person’s sex. In humans, there are two sex chromosomes, X and Y. Females have two X chromosomes and males have an X and a Y chromosome.
Sickle Cell Disease: An inherited disorder in which red blood cells have a crescent shape, which causes chronic anemia and episodes of pain.
Tay-Sachs Disease: An inherited disorder that causes mental disability, blindness, seizures, and death, usually by age 5.
Trimester: A 3-month time in pregnancy. It can be first, second, or third.
Trisomy: A condition in which there is an extra chromosome.
Ultrasound Exams: Tests in which sound waves are used to examine inner parts of the body. During pregnancy, ultrasound can be used to check the fetus.
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