Screening Tests During Pregnancy
| 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 first 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, undiagnosed diabetes or 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) | |
| Cell-free fetal DNA | Assess risk of carrying a fetus with certain chromosomal abnormalities; currently recommended for women at high risk of having babies with these disorders | During or after the 10th week 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) |