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)
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)
Sex chromosome abnormalities
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.