sequential screening test bcbs michigan cover

SMA is a progressive degeneration of lower motor neurons. Muscle weakness is the most common type with respiratory failure by the age of 2 years old. The carrier frequency is 1 in 47 to 1 in 72 in the US and both parents need to be carriers for a child to be affected (25% chance). Spinal Muscular Atrophy (SMA): SMA is the most common inherited cause of early childhood death. Recommended follow up to a positive result is testing of the baby’s father. With treatments today, people with Cystic Fibrosis can live into their 30’s. Symptoms range from mild to severe, but individuals with severe disease may die in childhood. Cystic fibrosis is a disorder of mucus production and produces abnormally thick mucus leading to life threatening lung infections, digestion problems, poor growth, infertility, and more. Both parents need to be carriers for a child to be affected (25% chance). The carrier frequency is 1 in 24, to 1 in 97. Approximate cost: $305Ĭystic Fibrisis: Cystic Fibrosis is the most common inherited disease of children and young adults. Recommended follow up to a positive result is additional testing that is more definitive, as well as referral for genetic counseling and prenatal diagnosis. Typically, the quad screen is done between weeks 15 and 20 of pregnancy-the second trimester, and the results indicate whether the baby is at higher risk for Down Syndrome (Trisomy 21), Trisomy 18, and open neural tube defects. It is a test that measures levels of four substances in a pregnant woman’s blood-Alpha-fetoprotein (AFP), a protein made by the developing baby Human chorionic gonadotrphin (hCG), a hormone made by the placenta Estriol, a hormone made by the placenta and the baby’s liver and Inhibin A, another hormone made by the placenta. Quad Screen: This test is also known as the quadruple marker test. Recommended follow up to a positive result is additional testing that is more definitive, and referral for genetic counseling and prenatal diagnosis. An alpha-fetoprotein test (AFP) is also included to test for open neural tube defects.

These measurements in combination with some maternal information such as height and weight are used to calculate whether the baby is at increased risk for Down Syndrome or Trisomy 18. The blood tests measures three different maternal hormone levels, - pregnancyassociated plasma protein (PAPP-A), human chorionic gonadotrophin (hCG), and dimeric inhibin A (DIA). The ultrasound measures the amount of fluid behind the baby’s neck called the nuchal translucency (NT). It includes two blood draws and an ultrasound. The test has a narrow window for testing (the first step must be performed between 10 and 13 weeks gestation). Sequential Screening with Nuchal Translucency: This is a two-step test to detect whether a fetus is at increased risk for trisomy 21, trisomy 18, and open neural tube defects. If you elect this test, you will also have an AFP (alpha-fetoprotein) blood test to test for open neural tube defects. Recommended follow up to a positive result is genetic counseling and prenatal diagnosis. This test can be performed at any time after 10 weeks gestation.

The test analyzes the relative amount of 21, 18, 13, X and Y chromosome material in circulating cell-free DNA from a maternal blood sample. The test also offers an optional analysis for fetal sex. NIPT (Non-Invasive Prenatal Testing or Cell Free- Fetal DNA): This is a simple and accurate non-invasive prenatal screening blood test that offers results for early risk assessment of Down Syndrome (Trisomy 21), or Trisomy 18 and other aneuploidy conditions.

You may choose one of the following options: Trisomy 21 (Down Syndrome), Trisomy 18, and Open Neural Tube Defects (Spina Bifida). Guide to Genetic Testing Aneuploidy Testing

Sequential screening test bcbs michigan cover