Maternal serum screening
Part of what makes Integrated Genetics different from other labs that offer genetic testing services for reproductive health is our commitment to every step of the pregnancy. Oftentimes, the first step is maternal serum screening.
We offer serum screenings to assess risk for a range of conditions, including Down syndrome, trisomy 18, and open neural tube defects.
While some screenings appear to deliver the same result—eg, risk assessment for Down syndrome and/or trisomy 18 and/or open neural tube defects—the difference is usually in the methodology.
A two-part test that uses blood samples drawn in the first and second trimesters to provide risk assessments in the second trimester for fetal Down syndrome, trisomy 18 and open neural tube defects.
Two biochemical markers—pregnancy associated plasma protein (PAPP-A) and human chorionic gonadotropin (hCG), and the nuchal translucency (NT) ultrasound measurement—are combined to provide a risk assessment in the first trimester for fetal Down syndrome and trisomy 18.
A two-part test that screens for fetal Down syndrome, trisomy 18 and open neural tube defects.
A two-part test that screens for fetal Down syndrome, trisomy 18 and open neural tube defects, providing a single risk assessment in the second trimester.
Four biochemical markers—alpha fetoprotein (AFP), human chorionic gonadotropin (hCG), unconjugated estriol (uE3) and dimeric Inhibin-A—are analyzed in a maternal serum sample to provide risk assessments for Down syndrome, trisomy 18 and open neural tube defects in the second trimester.
Maternal serum alpha-fetoprotein (MSAFP)
A single marker screening test performed on a maternal serum sample collected in the second trimester between 15 weeks / 0 days and 23 weeks / 6 days (15.0–23.9 weeks) to provide a risk assessment for fetal open neural tube defects.
Other testing options
In addition to serum screening, we also offer: noninvasive prenatal testing (NIPT, sometimes called NIPS or cell-free DNA), including the pioneering whole-genome NIPT; carrier screening, from comprehensive to single-gene; diagnostic testing that can be used on prenatal and products of conception (POC) samples, as well as pediatric, cord blood or adult samples; and hereditary cancer screening.