The Center for Medical Genetics and Genomics of UPMC is committed to the treatment and study of genetic disorders spanning the life cycle from pregnancy, through childhood, and into adulthood. Basically, you go to your doctor’s office or local lab and give a sample of your blood. Instead, the information can be helpful to you and your doctor and baby’s birth. There are three different types of genetic screening tests that are offered at Brattleboro OB/GYN. NT focuses on a small, clear space at the back of a growing baby's neck called the nuchal fold. What is genetic carrier screening? A nuchal translucency screening, or NT screening, is a specialized routine ultrasound performed at the end of the first trimester of pregnancy. The first trimester screening test involves having blood drawn and obtaining an ultrasound at some point during the first 10 to 13 weeks of pregnancy. Genetic testing methods may increase the risk of miscarriage, and they are generally reserved for pregnant people over the age of 35, couples who have a family history of genetic disorders, or to confirm a positive result from prenatal screening. GENOME-Flex is a value-added service that involves the rapid re-sequencing of your original MaterniT 21 PLUS sample using MaterniT GENOME when anomalies are suspected by routine tests later in your pregnancy, such as ultrasounds, without a redraw or diagnostic … Prenatal genetic testing is one way a woman can improve the chance to have a healthy baby. It diagnoses chromosome and genetic abnormalities. Carrier screening is testing that's done to see whether you or your partner carry a genetic mutation that could cause a serious inherited disorder in your baby. Prenatal cell-free DNA (cfDNA) screening, also known as noninvasive prenatal screening, is a method to screen for certain chromosomal abnormalities in a fetus. Remember: Just because you have genetic testing doesn’t mean you’d end your pregnancy. Because CVS is an invasive procedure, it carries a small risk of miscarriage. Deciding whether or not to test Some parents-to-be confuse getting genetic testing with deciding whether or not “to keep the baby” if there are any potential problems. Two types of genetic testing are available to women who are currently pregnant, aneuploidy screening and carrier screening. Aneuploidy screening involves examining the current pregnancy for chromosomal abnormalities that will affect the fetus such as extra or missing chromosomes that may cause genetic disorders like Down syndrome or birth defects. It also can't detect neural tube defects like spina bifida. It helps doctors determine if a baby is statistically more likely to have a chromosomal abnormality. 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