Survival/Outcome
IUFD/Stillbirth: Intrauterine Fetal Death (IUFD): Baby dies while in utero resulting in a birth of an infant who cannot be resuscitated.
Stillbirth: Giving birth to a child who is already dead.
Live Birth - Living:  Born alive, still living
Live Birth - Subsequent Death:  Born alive, no longer living
Neonatal Death:  Death after premature birth
Spontaneous Abortion: Pregnancy ending in a miscarriage
Termination:  Choosing to end the pregnancy by medical intervention

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

Indication for Testing
Advanced Maternal Age:  Pregnancy after the age of 35

Double Positive Serum Screen:  Getting more then 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 (Maternal Serum-alpha-fetoprotein) level -- 2 1/2 times above normal -- is associated with open neural tube defects (spina bifida) and central nervous system defects (anencephaly). Elevated levels are also associated with twins and an open anterior abdominal wall defect of the fetus. Elevated levels may also play a role in late-pregnancy complications such as preterm delivery, intrauterine growth retardation and hemorrhage.

Family History for Chromosome Abnormality: A history with-in the family of chromosome disorders such as Downs Syndrome.
Postnatal Abnormality: Abnormalities discovered after birth and not during the prengnacy.

Screen Positive for Downs Syndrome: Abnormally low MSAFP (Maternal Serum-alpha-fetoprotein) levels are associated with Down's syndrome and other chromosomal abnormalities.

Ultrasound Abnormality:  Abnormality discovered during an ultrasound

Case Type
Amniocentesis: A procedure preformed 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 15 weeks.

CVS: Chorionic Villus Sampling (CVS) a health care provider inserts a thin tube through the vagina and cervix to take a tiny tissue sample from outside the sac where the baby develops. This test can be done a little sooner then an amnio. Preformed around 10 to 12 weeks.

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.

Unknown:  Unsure if this has happened

UPD Maternal: Uniparental disomy (UPD) 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. In the rare circumstance of UPD a baby may have two copies of one of his/ her mother's chromosome and no copies of that chromosome from his/ her father. This is called maternal UPD.

UPD Paternal: Uniparental disomy (UPD) 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. Paternal UPD is when a child inherits two copies of a specific chromosome from his/ her father and no copies of that chromosome from his/ her mother.

Age of Diagnosis
Prenatal:  Diagnosis made during pregnancy

Neonatal/Birth: Diagnosis made at premature or full-term birth

< 1: Diagnosis made with in the first year, but not at birth
1:  Diagnosis made at the age of 1
2: Diagnosis made at the age of 2
3: Diagnosis made at the age of 3
4: Diagnosis made at the age of 4
5: Diagnosis made at the age of 5
6: Diagnosis made at the age of 6
7: Diagnosis made at the age of 7
8: Diagnosis made at the age of 8
9: Diagnosis made at the age of 9
10: Diagnosis made at the age of 10

Autopsy: Diagnosis was not made until after death

Unknown: Unsure when diagnosis was made