Pregnancy Support & Testing Services
Expert Services for Pregnant Women
Having a baby is an exciting and challenging experience. Mills-Peninsula has for many years offered comprehensive prenatal testing services, including genetic screening, ultrasounds, amniocentesis and genetic counseling. Today the medical experts and latest technology are all located conveniently on the Women’s Center, 4th floor.
The goal is to identify certain genetic disorders and birth defects in a developing fetus using the most advanced technology and procedures. Our program is fully accredited by the American Institute of Ultrasound in Medicine and the California Genetics Disease Branch. A genetic counselor will provide you personalized care.
Radiologists with specialized training in OB diagnostic imaging provide additional care for special-needs pregnancies.
- Who should have a screening test?
- What is genetic counseling?
- What are screening tests and what types are available?
- What are diagnostic tests & what types are available?
Who should have a screening test?
You may benefit from genetic counseling and prenatal testing if:
- You are pregnant and under age 35 but would like more accurate screening for chromosomal abnormalities such as Down syndrome
- You are pregnant and will be 35 years or older on your due date
- You are pregnant with an abnormal screening test result (for example, a positive expanded AF P blood test or integrated screening result)
- You have had an ultrasound of your fetus showing a possible birth defect
- You have already had a child or other close relative with a birth defect or genetic disease
- You and your partner are carriers of a recessively inherited disease such as Tay-Sachs, sickle cell anemia, cystic fibrosis, or thalassemia
- You are a carrier of an X-linked disease such as Fragile X, hemophilia, or muscular dystrophy
- You and your partner are closely related (such as first cousins)
- You have been exposed to medications, X-rays or other agents during your pregnancy that may be harmful to the developing fetus
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What is genetic counseling?
Specially trained genetic counselors provide information and support to individuals and families, addressing concerns about birth defects or inherited diseases before or during pregnancy. They also discuss family and personal health history to determine the chance that fetal disorders might occur and present appropriate options for prenatal testing.
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What are screening tests and what types are available?
Screening tests help identify women who are at increased risk of having babies with certain chromosomal abnormalities such as Down syndrome, selected inherited diseases such as cystic fibrosis, or physical birth defects such as spina bifida. The tests pose no risk to the pregnancy and identify many, but not all, women who are carrying fetuses affected with the conditions that are being screened.
There are a series of individual markers used to identify women carrying fetuses likely to be affected with Down syndrome or other problems. Screening tests are used to adjust your risk based on your age. Proteins detected in a pregnant woman’s blood and/or ultrasound can be combined in various ways to assess the risk for Down syndrome. Each test has specific benefits and your genetic counselor will help you decide which test, if any, may be right for your pregnancy. All of these screening tests are non-invasive, with no increased risk for miscarriage. Individual tests offered at our center include:
Full Integrated Screen
Integrated Screen is a screening test that looks at both first and second trimester markers to assess the risk for Down syndrome and trisomy 18. This test also assesses the chance for open neural tube defects, such as spina bifida, in a pregnancy. Integrated screening consists of two phases:
- The first phase is performed at 10-14 weeks of pregnancy. The specialized NT ultrasound is used to measure the amount of fluid underneath the skin at the back of the fetus’ neck. Also, the mother’s blood is drawn at this time.
- The second phase is performed at 15-20 weeks of pregnancy and consists of an additional blood test and a detailed ultrasound at 18-20 weeks.
The Full Integrated Screen is an option available in the Prenatal Diagnostic Program.
It is important to note that this is only a screening test, not diagnostic. Most women with a positive screening test result are carrying a healthy baby. Women with a positive test result are subsequently offered diagnostic testing.
An ultrasound examination uses high frequency sound waves to create a visual image of fetal structures. The ultra sound allows evaluation of the anatomy of the baby, number of fetuses present, fetal growth, due date confirmation, determination of placental positions and other information about the pregnancy that can be useful to you and your doctor.
Targeted Ultrasound Examination
In pregnancies at increased risk for specific genetic conditions or physical abnormalities, ultrasound may be used to examine a specific organ system or part of the body in an attempt to detect problems before birth.
Individuals may have an increased chance of being a carrier of some genetic diseases based on their ethnic background and family history. For example, cystic fibrosis is more common in Caucasians. A genetic counselor will discuss what carrier screening options may be appropriate for you.
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What are diagnostic tests & what types are available?
Diagnostic tests identify chromosome abnormalities such as Down syndrome. We can test for other genetic diseases including cystic fibrosis and thalassemia, if the fetus is determined to be at risk. Because cells are tested directly from the fetus or placenta, the results are diagnostic (greater than 99 percent accurate for chromosome results). However, because it is necessary to enter the womb to obtain the cells, there is a small risk of miscarriage due to the procedure.
Chorionic Villus Sampling (CVS )
CVS is a procedure in which a small amount of tissue (chorionic villi) is obtained from the placenta between 10 and 13 weeks of pregnancy. The tissue is then analyzed for chromosome studies and, if indicated, specific genetic diseases. CVS provides the earliest diagnostic test results for Down syndrome and other chromosome problems. (CVS cannot screen for spina bifida). Approximately one percent of CVS results will be unclear or indeterminate. Most fetuses screened are normal, but additional testing, such as amniocentesis, may be indicated. Studies show that the risk for miscarriage due to CVS is less than 1 in 200.
Amniocentesis is traditionally performed between 16 and 20 weeks of pregnancy. During the procedure, a thin needle is inserted through the mother’s abdomen into the amniotic fluid surrounding the fetus. A small amount of fluid is removed and analyzed for chromosome abnormalities, spina bifida and, if indicated, specified genetic diseases. The most recent studies show that the risk of miscarriage due to amniocentesis is 1 in 1,600.
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