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.

Amniotic Fluid: Fluid in the sac that holds the fetus.

Aneuploidy: Having an abnormal number of chromosomes.

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: 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.

Embryo: The stage of development that starts at fertilization (joining of an egg and sperm) and lasts up to 8 weeks.

Fetus: The stage of human development beyond 8 completed weeks after fertilization.

Fluorescence In Situ Hybridization (FISH): A screening test for common chromosome problems. The test is done using a tissue sample from an amniocentesis or chorionic villus test.

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.

Hospice Care: Care that focuses on comfort for people who have an illness that will lead to death.

In Vitro Fertilization (IVF): A procedure in which an egg is removed from a woman's ovary, fertilized in a laboratory with the man's sperm, and then transferred to the woman's uterus to achieve a pregnancy.

Karyotype: An image of a person's chromosomes, arranged in order of size.

Microarray: A technology that examines all of a person's genes to look for certain genetic disorders or abnormalities. Microarray technology can find very small genetic changes that can be missed by the routine genetic tests.

Monosomy: A condition in which there is a missing chromosome.

Mutations: Changes in a gene that can be passed on from parent to child.

ObstetricianGynecologist (Ob-Gyn): A doctor with special training and education in women's health.

Placenta: An organ that provides nutrients to and takes waste away from the fetus.

Preimplantation Genetic Diagnosis: A type of genetic testing that can be done during in vitro fertilization. Tests are done on the fertilized egg before it is transferred to the uterus.

Screening Tests: Tests that look for possible signs of disease in people who do not have signs or symptoms.

Sickle Cell Disease: An inherited disorder in which red blood cells have a crescent shape, which causes chronic anemia and episodes of pain.

TaySachs Disease: An inherited disorder that causes intellectual disability, blindness, seizures, and death, usually by age 5.

Trisomy: A condition in which there is an extra chromosome.

Ultrasound Exam: A test in which sound waves are used to examine inner parts of the body. During pregnancy, ultrasound can be used to check the fetus.

Uterus: A muscular organ in the female pelvis. During pregnancy, this organ holds and nourishes the fetus. Also called the womb.

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Prenatal Genetic Diagnostic Tests | ACOG

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