2 Prenatal TestingPrenatal testing can provide valuable information about the baby's health.Understand the risks and benefits, and how prenatal testing might effect prenatal care.
3 Types of prenatal testing Prenatal testing includes both screening tests and diagnostic tests.Screening testsPrenatal screening tests can identify whether the baby is more likely to have certain conditionsUsually can't make a definitive diagnosisScreening tests pose no risks for mother or babyDiagnostic testsA more invasive prenatal diagnostic testThe only way to be sure of a diagnosisSome tests carry a slight risk of miscarriage
4 hCG Why is this test given?: A blood test Confirms pregnancy. Detects some birth defectsA blood testNote: Human chorionic gonadotropin (hCG) is a hormone that is produced by the placenta after a woman becomes pregnant.
5 AFP Why is this test given?: A blood test May indicate an increased risk for fetal neural tube defectsSpina bifidaa deformity of the spinal columnAnencephalythe absence of all or part of the brainDown syndromeA blood testNote: AFP, hCG, and estriol are tested together and are referred to as a triple screen. The quad screen refers to a test that measures AFP, hCG, and estriol but adds inhibin to improve its accuracy.
6 Ultrasound Why is this test given?: Detect abnormalities in the baby.Can sometimes determine the baby's genderUses sound waves to make an image of the baby.Accuracy:Depends on clarity of imageTechnicians ability to read imageRisk:none
7 Explanation of Ultrasound Test 3D Ultrasound video clip Click on image for video clip (21 seconds) Click on image for video clips(1:58 minutes)
8 Glucose screening Why is this test given: A blood test Risk: To determine if the mother is developing gestational diabetesOccurs in 3%-5% of pregnant womenA blood testRisk:None
9 Amniocentesis Why is this test given: To detect genetic or chromosomal disordersover age 35 or high riskRemoves a small sample of amniotic fluid for analysisAccuracy: 98-99%Risk:1/200 women who have this procedure miscarry
10 CVS Why is this test given?: To detect birth defects in the baby. Can be done earlier in pregnancy than amniocentesisOr when amniocentesis is not possibleSuch as when there is not enough amniotic fluidRemoves a small sample of the placentaAccuracy: 98-99%Risk:1/100 women who have this procedure miscarry
11 Discussion: Questions to consider What will you do with the test results?Will the information shape your prenatal care?How accurate are the results?What are the risks?What is the expense?If the test you're considering isn't covered by your insurance plan, are you willing and able to cover the cost of the test on your own?
12 Teacher Reference: Questions to consider What will you do with the test results? Normal results can ease your anxiety. However, if prenatal testing indicates that your baby might have a birth defect, you could be faced with wrenching decisions — such as whether to continue the pregnancy. On the other hand, you might welcome the opportunity to plan for your baby's care in advance.Will the information shape your prenatal care? Some prenatal tests detect problems that can be treated during pregnancy. In other cases, prenatal testing alerts your health care provider to a condition that requires immediate treatment after birth.How accurate are the results? Prenatal testing isn't perfect. The rate of false-negative and false-positive results varies from test to test.What are the risks? Weigh the risks of specific prenatal tests — such as anxiety, pain or possible miscarriage — against the value of knowing the results.What is the expense? Insurance coverage for prenatal testing varies. If the test you're considering isn't covered by your insurance plan, are you willing and able to cover the cost of the test on your own?The decision is yoursPrenatal testing can provide information that influences your prenatal care. Remember, though, some screening tests introduce the need for careful personal decisions. Ultimately, the decision to pursue prenatal testing is up to you.If you're concerned about prenatal testing, discuss the risks and benefits with your health care provider. You might also meet with a genetic counselor for a more thorough evaluation.A genetic counselor can help you understand:The odds of your baby developing a particular conditionHow the condition would impact your baby's life, including your baby's physical and mental development and quality of lifePossible treatment options, either during pregnancy or after birthTaking the time to evaluate your options will help you make the best decision for you and your baby.
14 Prenatal Testing: Genetic tests for inherited diseases PurposeTest nameWhy performedWhen performedWho performed on/SampleGenetic tests for inherited diseasesGenetic testing for inherited diseasesCheck carrier status for certain genetic diseases to determine risk of having a baby with such a diseasePre-conception or first trimesterMother and father (blood sample)Genetic testing for hemoglobin disordersCheck carrier status for certain hemoglobin disorders to determine risk of having a baby with such a diseasePre-conception or during pregnancyCystic fibrosis carrier testingCheck carrier status for CF
15 Prenatal Testing: Health conditions of the mother that affect pregnancy Testing associated with health conditions of the mother that affect pregnancyImmunity to rubella (German measles)Check for immunity to the virus, which can cause birth defectsPre-conception or first trimesterMother (blood sample)Human immunodeficiency virus (HIV) antibody testCheck for HIV infection so steps can be taken to reduce likelihood of transmission to the babyPre-conception or first trimester; may be repeated in third trimester if at high riskGonorrhea, chlamydia, and syphilis testsCheck for STD infections, which can cause miscarriage or infect the baby during deliveryMother (cervical cells, urine or blood sample, depending on test)Pap smearDetect abnormal cervical cells, inflammation, or STDsMother (cells from her cervicx)Hepatitis B screeningDetect Hepatitis B infectionPre-conception or first trimester; may be repeated in the third trimester if at high riskVaricella zoster viral testingCheck for immunity to chicken pox, which can cause birth defectsTORCH panelCheck for infection with toxoplasmosis and other infectious diseases that can cause birth defectsPre-conception or first trimester, if infections suspectedBacterial vaginosisDetect infection, which can cause pre-term labor and birthPre-conception or whenever symptoms experiencedMother (vaginal secretions)Urine culture for bacteriuriaDetect bacterial infection in the urinary tract, which can lead to kidney infection or increased risk of pre-term delivery and low birth weightFirst prenatal visit or between 12 and 16 weeks of pregnancy; may be repeated in third trimesterMother (urine sample)Group B streptococcusDetect infection, which can harm the baby during birth and infect the mother’s uterus, urinary tract, and any incision made during a cesarean sectionBetween weeks 35 and 37 of pregnancyMother (specimen from vaginal and rectal areas)
16 Prenatal Testing: Monitoring of Pregnancy Pregnancy testConfirm pregnancyFirst trimesterMother (blood sample)Urine screen for sugar and/or proteinCheck for signs of kidney or bladder infection, undiagnosed diabetes or gestational diabetes, or preeclampsiaEach prenatal visitMother (urine sample)Hemoglobin testCheck for anemiaPre-conception and/or early in the first trimester; repeated in third trimesterAntibody screenCheck for potential incompatibility in blood type between mother and fetus (such as Rh factor antibodies)First trimester; repeated at week 28 of pregnancyGlucose challenge test/oral glucose tolerance testCheck for gestational diabetesBetween 24 and 28 weeks of pregnancyPlatelet countDetect a low count or other platelet problem; platelets are important for blood clotting in case of bleeding during deliveryThird trimester
17 Prenatal Testing: Detection of fetal abnormalities or risk First trimester Down syndrome screenAssess risk of carrying a fetus with certain chromosomal abnormalities, such as Down syndromeUsually between 10 weeks, 4 days and 13 weeks, 6 days of pregnancyMother (blood sample plus ultrasound)Triple marker or quad marker screenAssess risk of carrying a fetus with certain chromosomal abnormalities and open neural tube defectsBetween 15 and 20 weeks of pregnancyMother (blood sample)Cell-free fetal DNAAssess risk of carrying a fetus with certain chromosomal abnormalities; currently recommended for women at high risk of having babies with these disordersDuring or after the 10th week of pregnancyChorionic villus samplingDetect chromosomal disorders in the fetusBetween weeks 10 and 12 of pregnancy, if recommendedMother (cells from the placenta)AmniocentesisDetect certain birth defects and chromosomal abnormalitiesBetween 15 and 20 weeks of pregnancy, if recommendedMother (amniotic fluid)CordocentesisDetect chromosome abnormalities, blood disorders, and certain infectionsBetween weeks 18 and 22 of pregnancy, if recommendedMother/fetus (fetal blood sample obtained from vein in the umbilical cord)
18 Prenatal Testing: Fetal maturity/readiness for birth AmniocentesisCheck fetal lung developmentAfter week 32 of pregnancy if risk of pre-term deliveryMother (amniotic fluid)Fetal fibronectin (fFN)Detect fFN, negative result is highly predictive that pre-term delivery will NOT occur in the next 7-14 daysBetween week 26 and 34 of pregnancy, if having symptomsMother (cervical or vaginal fluid sample