There are many options for screening of chromosome abnormalities during a pregnancy. Currently, Insight offers two different types of prenatal screening: first trimester screening and cell-free DNA testing.
First Trimester Prenatal Screening
First trimester prenatal screening is a test that combines information from a blood sample and a specialized ultrasound. Several leading organizations, including the American Congress of Obstetrics and Gynecology, recommend that all pregnant women be offered the first trimester screening test because it can identify if the fetus has an increased risk of having one of the three most common chromosome abnormalities:
- Down syndrome (Trisomy 21)
- Trisomy 18
- Trisomy 13
Cell-free DNA Testing
Cell-free DNA (cfDNA) testing, sometimes called non-invasive prenatal testing (NIPT), is the newest prenatal screening option for chromosome abnormalities and is performed using a blood sample. In addition to identifying the three most common chromosome abnormalities (Trisomy 21, Trisomy 18, Trisomy 13), cfDNA can also identify other significant chromosome abnormalities that may be affecting your fetus:
- Down syndrome (trisomy 21)
- Trisomy 18
- Trisomy 13
- Sex chromosome abnormalities
- Trisomy 22
- Trisomy 16
- Several microdeletion syndromes
cfDNA testing can also determine the gender of the fetus. You can discuss the benefits and limitations of each of these types of screenings with your Insight genetic counselor.
We offer our specialized ultrasound services as an important component of first trimester screening/cfDNA testing and assessment, which provides you with personalized risk assessments for specific chromosome abnormalities.
Prenatal Screening - What to Expect
During your appointment, you will have a thorough consultation with a genetic counselor who will discuss with you all the options for prenatal screening. If you choose to move forward with testing, there are several ways to proceed. You can have your blood drawn and an ultrasound completed on the same day and receive results within ten days OR you can have your blood drawn at your first appointment and come back for an ultrasound appointment and to review test results. Typically patients have their blood drawn at 10-11 weeks and will return for an ultrasound appointment at 12-13 weeks. We do our best to accommodate each patient and the timeframe that works best for their pregnancy.
Most often, the results of your prenatal screening will provide reassurance. The majority of women will learn that their pregnancy has a reduced risk for the abnormalities being screened. If a pregnancy is found to be at an increased risk for a genetic condition, the patient or couple will be counseled about what further testing options are available and will then be able to make an informed decision about how to proceed with the pregnancy.