PRENATAL TESTING. Prenatal testing can provide valuable information about the baby's health. Understand the risks and benefits, and how prenatal testing.

PRENATAL TESTING

Prenatal testing can provide valuable information about the baby's health.

Understand the risks and benefits, and how prenatal testing might effect prenatal care.

PRENATAL TESTING

Prenatal testing includes both screening tests and diagnostic tests.

Screening tests Prenatal screening tests can identify whether the baby is

more likely to have certain conditions Usually can't make a definitive diagnosis Screening tests pose no risks for mother or baby

Diagnostic tests A more invasive prenatal diagnostic test The only way to be sure of a diagnosis Some tests carry a slight risk of miscarriage

TYPES OF PRENATAL TESTING

Why is this test given?:Confirms pregnancy. Detects some birth defects

A blood test

Note: Human chorionic gonadotropin (hCG) is a hormone that is produced by the placenta after a woman becomes pregnant.

hCG

Why is this test given?:May indicate an increased risk for fetal neural tube defects Spina bifida

a deformity of the spinal column

Anencephaly the absence of all or part of the brain

Down syndrome

A blood test

Note: 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.

AFP

Why is this test given?:Detect abnormalities in the baby. Can sometimes determine the baby's gender

Uses sound waves to make an image of the baby.

Accuracy: Depends on clarity of image Technicians ability to read image

Risk: none

ULTRASOUND

Explanation of Ultrasound Test 3D Ultrasound video clip

C l i c k o n i m a g e f o r v i d e o c l i p ( 2 1 s e c o n d s ) C l i c k o n i m a g e f o r v i d e o c l i p s ( 1 : 5 8 m i n u t e s )

ULTRASOUND VIDEO

Why is this test given:To determine if the mother is developing gestational diabetes

Occurs in 3%-5% of pregnant women

A blood test

Risk: None

GLUCOSE SCREENING

Why is this test given: To detect genetic or

chromosomal disorders over age 35 or high

risk

Removes a small sample of amniotic fl uid for analysis

Accuracy: 98-99%

Risk: 1/200 women who

have this procedure miscarry

AMNIOCENTESIS

Why is this test given?:To detect birth defects in the baby.

Can be done earlier in pregnancy than amniocentesis

Or when amniocentesis is not possible Such as when there is not enough amniotic fluid

Removes a small sample of the placenta

Accuracy: 98-99%

Risk: 1/100 women who have this procedure miscarry

CVS

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?

DISCUSSION: QUESTIONS TO CONSIDER

PRENATAL TESTING RESOURCES

PRENATAL TESTING:GENETIC TESTS FOR INHERITED DISEASES

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 smearDetect 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 testingCheck 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 vaginosisDetect 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)

PRENATAL TESTING:HEALTH CONDITIONS OF THE MOTHER THAT AFFECT PREGNANCY

Monitoring of pregnancy

Pregnancy test Confirm pregnancy First trimesterMother (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 trimesterMother (blood sample)

PRENATAL TESTING: MONITORING OF PREGNANCY

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)

PRENATAL TESTING:DETECTION OF FETAL ABNORMALITIES OR RISK

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

PRENATAL TESTING:FETAL MATURITY/READINESS FOR BIRTH