Genetic Counseling

The only hospital in Boulder County offering genetic counseling is Boulder Community Foothills Hospital. Our genetic counselor can provide information and support if you have a strong family history of birth defects or you have concerns about whether your children may be at risk.

Integrated Screening for the Early Detection of
Down Syndrome

Our Integrated Prenatal Screening program provides information about your risk to have a child with Down syndrome. It is able to detect Down syndrome in 90 percent of cases, making it more accurate than the triple or quadruple screen that is normally performed by your doctor. The results from the integrated screen can help you decide whether or not to pursue further testing, such as aminiocentesis.

Integrated screening consists of two stages of noninvasive testing. Information from ultrasound and blood samples are combined in the two stages.

Stage 1:

Stage 1 takes places between 10-13 weeks of pregnancy and consists of ultrasound measurements and a blood draw. The ultrasound is used to measure the length of the baby to determine its gestational age. The skin at the back of the baby's neck is also measured. This measurement is referred to as the "nuchal translucency." The nuchal translucency can be thicker in pregnancies with Down syndrome.A physician will review the results of your ultrasound with you the same day and go over appropriate testing options, both non-invasive and invasive. If integrated screening is the best option for you, your blood will also be drawn and measured for the level of a marker called Pregnancy Associated Plasma
Protein-A (PAPP-A).

Stage 2:

Stage 2 takes place between 15-22 weeks of pregnancy and consists of only a blood draw. In this stage, a Quadruple screen will be performed on the blood. This screen is similar to the traditional Triple screen but measures an additional marker.

The markers include alpha-fetoprotein (AFP), unconjugated estriol (uE3), inhibin-A (inhibin), and chorionic gonadotropin (b-hCG). In addition to providing information about Down Syndrome, these markers provide screening information about two other conditions. It assesses your risk to have a child with an open neural tube defect such as spina bifida, a condition caused by an incomplete closure of the skin over the spinal cord. Exposure of the spinal cord leads to damage of the nerves, usually leading to paralysis below the point of the opening. Lastly, the test assesses the risk for trisomy 18, a disorder caused by having an extra copy of chromosome 18, which is usually fatal.

Test Results:

The results from the two stages of testing are combined to provide a single screening result. Integrated screening has a 90 percent detection rate for Down syndrome and only a 2.5 percent false positive rate. Your final results are available within three business days. Our office will phone the results to you and fax them to your physician. We will notify your physician of "Screen positive" results prior to faxing.

Integrated Screening is available at Boulder Community Foothills Hospital. If you are interested in this program or if you have any questions, please feel free to contact us at 720-854-7539.

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