Integrated screening for Down syndrome is a new approach for the detection of Down syndrome and other genetic abnormalities in your fetus. This test is a screening test that provides individualized information about your baby’s risk of Down syndrome by combining your age, results of two blood tests, and ultrasound measurement of the neck region (nuchal translucency) of your fetus. If the test indicates your baby is at increased risk for Down syndrome, you can decide to undergo a diagnostic test such as amniocentesis. Integrated screening is currently the most accurate Down syndrome screening method.
As mentioned above, the four components of integrated testing are maternal age, two blood tests, and a nuchal translucency measurement of your fetus. The first blood test is drawn in our office at the time of your nuchal translucency ultrasound. The ultrasound examination is performed between 10 weeks 3 days and 13 weeks 6 days of pregnancy. You then return to our office for a second blood test between 15 weeks and 21 weeks of pregnancy.
Your results will then be called to you in about a week after your second blood sample is drawn.
No, your ultrasound must be performed in our office. Our doctors and ultrasound technicians have received special training to perform this test and utilize high-resolution ultrasound machines. In addition, our center participates in an on-going quality control program sponsored by the Society of Maternal Fetal Medicine.
Do not panic! In most cases your baby will not have Down syndrome. You will be offered genetic counseling to explain your test results and your options for further testing. These might include amniocentesis.
No. This is a screening test and will identify approximately 90% of cases of Down syndrome. This means that approximately 10% of cases will be missed.
Integrated screening also detects about 90% of cases of trisomy 18. This condition is much more severe than Down syndrome. Most infants born with this disorder die shortly after birth.
Yes, integrated screening does detect approximately 80% of cases of open spina bifida. A detailed ultrasound at 18 to 20 weeks of pregnancy may increase the detection rate of spina bifida.
Yes, although the detection rate for Down syndrome is slightly lower.
Please call our office with any questions or to schedule an appointment, 415-202-1200