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Women's Health Services | Prenatal Screening for Down Syndrome

Women over age 35 have an increased risk of giving birth to babies with Down syndrome and other chromosomal conditions.

In addition, women with a previous child with a genetic birth defect (including chromosomal) or a family history of a genetic disorder, are also at risk. Your doctor may recommend that you meet with a genetic counselor, as well as order diagnostic tests to to assess your baby’s health.

There are several prenatal diagnostic tests that can be performed to determine the occurrence of Down syndrome. These tests include amniocentesis, chorionic villus sampling (CVS), and percutaneous umbilical blood sampling (PUBS).

Amniocentesis, the removal and analysis of a small sample of fetal cells from the amniotic fluid, is widely available and involves a lower risk of miscarriage than chorionic villus sampling. However, amniocentesis cannot be done until the 14th to 18th week of pregnancy, and it usually takes additional time to determine whether the cells contain extra material from chromosome 21.

Chorionic Villus Sampling, conducted at 9 to 11 weeks of pregnancy, involves extracting a tiny amount of chorionic villi tissue extensions(using and ultrasound as a guide) that will eventually develop into a placenta. The tissue can be tested for the presence of extra material from chromosome 21. The villi can be obtained through the pregnant woman's abdomen or cervix. This type of sampling carries a 1-2% risk of miscarriage.

Percutaneous Umbilical Blood Sampling or PUBS, is the most accurate method and can be used to confirm the results of CVS or amniocentesis. However, PUBS cannot be performed until later in the pregnancy, during the 18th to 22nd weeks, and carries the greatest risk of miscarriage.

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These tests are ordered to offer reassurance that your baby is doing well during your pregnancy:

First Trimester Screening
Most babies are born normal. All women, however, have a very small chance of having a baby with a chromosome problem such as Down Syndrome.

Fetal Movement Counting
Along with the tests that are performed on our unit, we commonly request that you also conduct a daily test of fetal health in your home.

Level II (Targeted) Ultrasounds
You may be referred by your obstetrician’s office to the Prenatal Testing Center for a "Level-II" or "Targeted" ultrasound exam.

Prenatal Screening for Down Syndrome
Women over age 35 have an increased risk of giving birth to babies with Down syndrome and other chromosomal conditions.

If a risk factor is discovered during your pregnancy, a specific individualized program of testing will be ordered by your obstetrician and/or the Prenatal Testing Center. Some of these tests may include:

Non-Stress Test (NST)
The NST has become the most common method of antepartum screening for fetal well-being.

Amniotic Fluid Index (AFI)
An ultrasound examination can diagnose either too little or too much amniotic fluid.

Fetal Biophysical Profile (BPP)
A biophysical profile (BPP) is a prenatal ultrasound evaluation of fetal wellbeing, involving a scoring system.

After your baby is born there are several procedures, screening and tests performed to ensure your baby’s health and safety:

Newborn Screening
The following procedures and tests are routinely done on all newborns. If you have any questions or concerns, please contact your pediatrician before you deliver.

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