| Purpose |
Test name |
Why performed |
When performed |
Who performed on/Sample |
| Genetic tests for inherited diseases |
Genetic testing for inherited diseases |
Check carrier status for certain genetic diseases to determine risk of having a baby with such a disease |
Pre-conception or 1st Trimester |
Mother and father (blood sample) |
| Genetic testing for hemoglobin disorders |
Check carrier status for certain hemoglobin disorders to determine risk of having a baby with such a disease |
Pre-conception or during pregnancy |
Mother and father (blood sample) |
| Cystic fibrosis carrier testing |
Check carrier status for CF |
Pre-conception or first trimester |
Mother and father (blood sample) |
| Testing associated with health conditions of the mother that affect pregnancy |
Immunity to rubella (German measles) |
Check for immunity to the virus, which can cause birth defects |
Pre-conception or first trimester |
Mother (blood sample) |
Human immunodeficiency virus (HIV) antibody test
|
Check for HIV infection so steps can be taken to reduce likelihood of transmission to the baby |
Pre-conception or first trimester; may be repeated in third trimester if at high risk |
Mother (blood sample) |
| Gonorrhea, chlamydia, and syphilis tests |
Check for STD infections, which can cause miscarriage or infect the baby during delivery |
Pre-conception or first trimester; may be repeated in third trimester if at high risk |
Mother (cervical cells, urine or blood sample, depending on test)
|
| Pap smear |
Detect abnormal cervical cells, inflammation, or STDs |
Pre-conception or first trimester |
Mother (cells from her cervicx) |
| Hepatitis B screening |
Detect Hepatitis B infection |
Pre-conception or first trimester; may be repeated in the third trimester if at high risk |
Mother (blood sample) |
| Varicella zoster viral testing |
Check for immunity to chicken pox, which can cause birth defects |
Pre-conception or first trimester
|
Mother (blood sample) |
| TORCH panel |
Check for infection with toxoplasmosis and other infectious diseases that can cause birth defects |
Pre-conception or first trimester, if infections suspected |
Mother (blood sample) |
| Bacterial vaginosis |
Detect infection, which can cause pre-term labor and birth |
Pre-conception or whenever symptoms experienced |
Mother (vaginal secretions) |
| Urine culture for bacteriuria |
Detect bacterial infection in the urinary tract, which can lead to kidney infection or increased risk of pre-term delivery and low birth weight |
First prenatal visit or between 12 and 16 weeks of pregnancy; may be repeated in third trimester |
Mother (urine sample) |
| Group B streptococcus |
Detect infection, which can harm the baby during birth and infect the mother’s uterus, urinary tract, and any incision made during a cesarean section |
Between weeks 35 and 37 of pregnancy |
Mother (specimen from vaginal and rectal areas) |
| Monitoring of pregnancy |
Pregnancy test |
Confirm pregnancy |
First trimester |
Mother (blood sample) |
| Urine screen for sugar and/or protein |
Check for signs of kidney or bladder infection, gestational diabetes, or preeclampsia |
Each prenatal visit |
Mother (urine sample) |
| Hemoglobin test |
Check for anemia |
Pre-conception and/or early in the first trimester; repeated in third trimester |
Mother (blood sample) |
| Antibody screen |
Check for potential incompatibility in blood type between mother and fetus (such as Rh factor antibodies) |
First trimester; repeated at week 28 of pregnancy |
Mother (blood sample) |
| Glucose challenge test/oral glucose tolerance test |
Check for gestational diabetes |
Between 24 and 28 weeks of pregnancy |
Mother (blood sample) |
| Platelet count |
Detect a low count or other platelet problem; platelets are important for blood clotting in case of bleeding during delivery |
Third trimester |
Mother (blood sample) |
| Detection of fetal abnormalities or risk |
First trimester Down syndrome screen |
Assess risk of carrying a fetus with certain chromosomal abnormalities, such as Down syndrome |
Usually between 10 weeks, 4 days and 13 weeks, 6 days of pregnancy |
Mother (blood sample plus ultrasound) |
| Triple marker or quad marker screen |
Assess risk of carrying a fetus with certain chromosomal abnormalities and open neural tube defects |
Between 15 and 20 weeks of pregnancy |
Mother (blood sample) |
| Chorionic villus sampling |
Detect chromosomal disorders in the fetus |
Between weeks 10 and 12 of pregnancy, if recommended |
Mother (cells from the placenta) |
| Amniocentesis |
Detect certain birth defects and chromosomal abnormalities |
Between 15 and 20 weeks of pregnancy, if recommended |
Mother (amniotic fluid) |
| Cordocentesis |
Detect chromosome abnormalities, blood disorders, and certain infections |
Between weeks 18 and 22 of pregnancy, if recommended |
Mother/fetus (fetal blood sample obtained from vein in the umbilical cord) |
| Fetal maturity/readiness for birth |
Amniocentesis |
Check fetal lung development |
After week 32 of pregnancy if risk of pre-term delivery |
Mother (amniotic fluid) |
| Fetal fibronectin (fFN) |
Detect fFN, negative result is highly predictive that pre-term delivery will NOT occur in the next 7-14 days |
Between week 26 and 34 of pregnancy, if having symptoms |
Mother (cervical or vaginal fluid sample) |