A Glossary of Medical Terms
The following glossary is arranged alphabetically by category and, unless noted otherwise, alphabetically within each category.
Abnormality Category
Cardiac: Problems with the heart.
Craniofacial: Problems with the skull and/or facial structure.
Gastrointestinal: Problems with the stomach and digestive system.
Musculoskeletal: Problems with the muscles or skeletal system.
Neurological: Problems with the brain.
Other/Misc: Other problems not listed.
Urogenital: Problems with the genitals and/or urinary system.
Age of Diagnosis (arranged chronologically)
Prenatal: Diagnosis made during pregnancy.
Neonatal: Diagnosis made at premature or full-term birth.
<1: Diagnosis made within the first year, but not at birth.
1: Diagnosis made at the age of one.
2: Diagnosis made at the age of two.
3: Diagnosis made at the age of three.
4: Diagnosis made at the age of four.
5: Diagnosis made at the age of five.
6: Diagnosis made at the age of six.
7: Diagnosis made at the age of seven.
8: Diagnosis made at the age of eight.
9: Diagnosis made at the age of nine.
10: Diagnosis made at the age of ten.
Autopsy: Diagnosis was not made until after death.
Unknown: Unsure when dianosis was made.
Case Type
Amniocentesis: A procedure performed during pregnancy by inserting a thin needle into the uterus (through the belly of the mother) to extract some amniotic fluid for testing. Done around fifteen weeks.
CVS (Chorionic Villus Sampling): A procedure in which a thin tube is inserted through the vagina and cervix to take a tiny tissue sample from outside the sac where the baby develops. This test can be performed around 10-12 weeks, a little sooner than an amniocentesis.
Postnatal: Testing done after birth.
Disomy Studies
Bi: Baby inherits one copy of each chromosome from his/her mother and one copy of each chromosome from his/her father - as normal.
UPD (Uniparental disomy): arises when an individual inherits two copies of a chromosome pair from one parent and no copy from the other parent. Recall that normally a baby inherits one copy of each chromosome from his/her mother and one copy of each chromosome from his/her father.
UPD Maternal: The rare circumstance of UPD in which a baby has two copies of one of his/her mother's chromosomes and no copies of that chromosome from his/her father.
UPD Paternal: The rare circumstance of UPD in which a baby has two copies of one of his/her father's chromosomes and no copies of that chromosome from his/her mother.
Unknown: Unsure if normal Bi has happened.
Indication for Testing
Advanced Maternal Age: Pregnancy after the age of thirty-five.
Double Positive Serum Screen: Getting more than one "possible" problem from the blood test done during pregnancy. A.K.A.
AFP (Alpha-fetoprotein), MSAFP (Maternal Serum-alpha-fetoprotein, Triple Screen), Elevated MSAFP: An elevated MSAFP level —2½ times above normal—is associated with open neural tube defects (spina bifida) and central nervous system defects (anencephaly). Elevated MSAFP levels are also associated with twins and an open anterior abdominal wall defect of the fetus. Elevated MSAFP levels may also play a role in late-pregnancy complications such as preterm delivery, intrauterine growth retardation, and hemorrhage.
Screen Positive for Down's Syndrome: Abnormally low MSAFP levels are associated with Down's Syndrome and other chromosomal abnormalities.
Family History for Chromosome Abnormality: A history within the family of chromosome disorders such as Downs Syndrome.
Postnatal Abnormality: Abnormality discovered after birth and not during pregnancy.
Ultrasound Abnormality: Abnormality discovered during an ultrasound.
Survival/Outcome
IUFD (Intrauterine Fetal Death): Baby dies while in utero resulting in a birth of an infant who cannot be resuscitated, i.e. stillbirth.
Live Birth - Living: Born alive, still living.
Live Birth - Subsequent Death: Born alive, no longer living.
Neonatal Death: Death after premature birth.
Spontaneous Abortion: Prenancy ending in a miscarriage.
Stillbirth: Giving birth to a child who is already dead.
Termination: Choosing to end the pregnancy by medical intervention.