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Patients who come to us for prenatal testing and/or genetic counseling will receive the benefits of knowledge plus compassionate counsel. Expectant mothers are reassured through our knowledge, experience and emotional support as they seek to make the best decisions with the information they are given during sometimes stressful situations.
Our genetic counselors have advanced degrees and are board certified or board eligible for certification by the American Board of Genetic Counselors. They will work closely with physicians specializing in maternal-fetal medicine and genetics to provide comprehensive genetic information and services to patients. Their services help patients make the most informed decisions about their pregnancy based on their personal circumstances.
The counselors will provide information on risk for genetic disorders, explain the appropriate genetic tests, and make the needed arrangements for testing. We offer a full range of services that can detect fetal abnormalities, including first trimester nuchal translucency screening, a non-invasive ultrasound screening for Down syndrome and other chromosomal abnormalities.
Common indications for genetic counseling include (but are not limited to):
- Maternal age (> 35 years old at the time of delivery)
- Individuals who are known to be at risk for carrying genetic disorders such as cystic fibrosis, muscular dystrophy, hemophilia, sickle cell disease or other conditions
- Parents of a child with a genetic disorder, birth defect or mental retardation
- Individuals who have had a laboratory test such as a serum quad screen or maternal serum alpha-fetoprotein (MSAFP) screening test indicating an increased risk for a genetic disorder
- Individuals diagnosed with a birth defect or mental retardation, or who have a family history of a genetic disorder
- Individuals of ethnic groups in which particular inherited diseases are more common, including African-American, French-Canadian, Jewish, Mediterranean or Asian backgrounds
- Individuals or couples who have had multiple miscarriages or pregnancy losses
- Women exposed to certain medications or drugs, significant radiation, and/or particular infections during pregnancy
Frequently asked questions
What are first trimester screening (FTS) and sequential screening?
These tests are designed to identify pregnancies at an increased risk for Down syndrome and trisomy 18 early in the pregnancy. They do not diagnose either condition, but provide an adjustment of a woman’s age-related risk. For example, a 35-year-old woman has a risk of approximately 1/270 for Down syndrome. Screening will provide an approximate risk value either equal to, higher (e.g., 1/15) or lower (e.g., 1/1000) than 1/270. Many women use screening risk adjustment prior to determining if they want a diagnostic procedure (i.e., amniocentesis or chorionic villi sampling), as these diagnostic tests have ~0.5-1% risk of pregnancy loss.
When can a woman have these tests?
The first trimester portion (FTS) is available between weeks 11-14 of the pregnancy. The second trimester portion is available between weeks 16-21 of the pregnancy. Both portions, combined, are called sequential screening.
How is the FTS obtained?
There are two parts to the FTS test: a special ultrasound examination and a blood test. The ultrasound examination measures a thin layer of fluid found at the back of the baby’s neck, called the nuchal translucency (NT). Blood is drawn from the woman's arm. Two biochemicals are measured in that blood sample: hCG (the pregnancy hormone) and PAPP-A (pregnancy associated plasma protein-A). These protein levels are evaluated, along with the NT measurement and the woman’s age, weight, race and the gestational age of the pregnancy, to provide an adjusted risk estimate.
What are Down syndrome and trisomy 18?
These chromosome abnormalities are caused by having an extra copy of either chromosome #21 (Down syndrome) or #18 (trisomy 18) in every cell of the developing baby. The extra chromosome contains many genes. This excess genetic material causes mental retardation and may also cause birth defects. The common forms of Down syndrome and trisomy 18 are usually not inherited and therefore may not be seen in families. The chance for any woman to have a baby with an extra chromosome increases with age.
How accurate are the test results?
Because this is a screening test, a positive result does not mean that the baby has either Down syndrome or trisomy 18. This test detects 80-90% of pregnancies in which the baby has either condition. A nuchal translucency ultrasound can be performed without measuring the blood biochemicals; however, the detection rate for these two conditions is reduced to about 70%. First trimester screening is not designed to provide information about the risk of other chromosome conditions, nor about many other disorders, birth defects or causes of mental retardation.
When will I get results? How are they reported?
Results are available in 3-4 days. They are reported as “positive” (risk higher than the cut-off) or “negative” (risk lower than the cut-off). The cut-off is equal to the risk of chromosome problems for a woman who is 35 years old. All results are expressed as a numerical ratio, e.g. 1/100 or 1/1000. This screening test never eliminates the possibility of having a baby with a chromosome abnormality.
What if the results are positive?
A positive screening test does not mean that the baby has Down syndrome or trisomy 18. It means that there is an increased risk for this outcome. Genetic counseling will be available to discuss the test results along with available options for further testing.
What if the results are negative?
A negative screen means that the patient’s risks for Down syndrome and trisomy 18 are less than the screening cut-off. A screening test can never eliminate the risk for Down syndrome or trisomy 18. Down syndrome and trisomy 18 make up about half of all sporadic chromosome abnormalities. FTS only estimates the risk for these two conditions; it does not screen for other possible chromosome abnormalities. As with any screening test, a negative result does not guarantee a healthy baby.
Should a woman have the second trimester screening after having FTS?
The second trimester maternal blood screening test is performed between weeks 16-21 of the pregnancy and is combined with the FTS results when a woman returns to our office for the blood draw. The second trimester serum component of the screen must be drawn in our office and sent to a specific lab to be included in the sequential screening. In addition, the AFP portion of this screening test can identify pregnancies at an increased risk for open neural tube defects such as spina bifida, which FTS does not screen for. Sequential screening combines results from the first and second trimester screening into one overall risk figure.
A detailed ultrasound is recommended in the second trimester for all FTS patients, in order to obtain a fetal anatomical survey.
What if a patient will be more than 35 years of age at delivery?
A woman's risk for having a baby with a chromosome abnormality gradually increases as she ages; however, all pregnant women should be informed about prenatal screening and diagnostic testing options. This is the recommendation of the American College of Obstetricians and Gynecologists (ACOG) (Practice Bulletin number 77 January, 2007).
What is the cost of this test?
The screening involves a charge for the ultrasound examination and the blood test. These charges are typically covered by insurance; however, a patient may want to check with her insurance company to see if her specific plan will cover these charges.