| 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 | Preconception or first trimester | Mother and father (blood sample) |
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| Genetic testing for hemoglobin disorders | Check carrier status for certain abnormal hemoglobin disorders to determine risk of having a baby with such a disease | Preconception or during pregnancy | Mother and father (blood sample) |
| Cystic fibrosis carrier testing | Check carrier status for CF | Preconception or first trimester | Mother and father (blood sample) |
| TESTING TO DETECT HEALTH CONDITIONS IN THE MOTHER | Blood glucose or hemoglobin A1c | To screen women at risk of type 2 diabetes (which is different than gestational diabetes) | Preconception or first trimester | Mother (blood sample) |
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| Pap test and HPV testing | Screen for cervical cancer and some STDs | Preconception or first trimester | Mother (cells from her cervix) |
| Immunity to rubella (German measles) | Check for immunity to the virus, which can cause birth defects | Preconception or first trimester | Mother (blood sample) |
| HIV screening test | Check for HIV infection so steps can be taken to reduce likelihood of transmission to the baby | Preconception 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 | Preconception or first trimester; may be repeated in third trimester if at high risk | Mother (cervical cells, urine or blood sample, depending on test) |
| Hepatitis B and hepatitis C screening | Detect hepatitis B or hepatitis C infection | Pre-conception or first trimester; may be repeated in the third trimester if at high risk | Mother (blood sample) |
| Varicella zoster virus testing | Check for immunity to chickenpox, which can cause birth defects | Preconception or first trimester | Mother (blood sample) |
| TORCH panel | Check for infection with toxoplasmosis and other infections that can cause birth defects | Preconception or first trimester, if infections suspected | Mother (blood sample) |
| Bacterial vaginosis | Detect infection, which can cause pre-term labor | Preconception 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) |
| CONFIRMATION AND MONITORING OF PREGNANCY AND HEALTH OF MOTHER | Pregnancy test (hCG) | Confirm pregnancy | First trimester | Mother (blood sample) |
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| Urine screen for glucose and/or protein | Check for signs of kidney or bladder infection, undiagnosed diabetes or gestational diabetes, or pre-eclampsia | Each prenatal visit | Mother (urine sample) |
| Complete blood count (CBC) | Check for anemia and/or detect low platelet count | Preconception and/or early in the first trimester; repeated in third trimester | Mother (blood sample) |
| Blood typing and antibody screen | Check for potential incompatibility in blood type between mother and fetus (such as Rh factor antibodies) | First trimester; antibody screen repeated between weeks 28 and 29 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) |
| Thyroid stimulating hormone (TSH) | In women with known thyroid conditions, to adjust medication if necessary | Throughout pregnancy | Mother (blood sample) |
| DETECTION OF FETAL ABNORMALITIES OR ASSESSMENT OF RISK | First trimester Down syndrome screen | Assess risk of carrying a fetus with certain chromosomal abnormalities, such as Down syndrome | Usually between 11 and 14 weeks of pregnancy | Mother (blood sample plus ultrasound) |
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| Second trimester maternal serum screen | Assess risk of carrying a fetus with certain chromosomal abnormalities or 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 10thweek 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 chromosomal 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) |
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| 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 22 and 35 of pregnancy, if having symptoms of pre-term labor | Mother (cervical or vaginal fluid sample) |
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