Down Syndrome or Trisomy 21 is one of the most common autosomal chromosomal disorders of the newborn. The severity of the syndrome includes intellectual disability, congenital heart malformation, immune system disorders, gastrointestinal maldevelopment, and severe physical development. This test uses only the first trimester markers NT, free bHCG and PAPP-A. The most suitable time for the test is approximately 11 weeks of pregnancy. But 10-13. Weeks are also acceptable. When the blood sample is taken, the ultrasound should be done on the same day.
Interpretation:(It should be done by the clinician) Low PAPP-A, high NT, free bHCG may be an indication of pregnancy with DOWN syndrome. This test does not provide information about neural tube defects. If the risk is 1/150 or greater, amniocentesis or CVS (Chorionic villus sampling) may be recommended. If the risk of Edward’s syndrome is 1/100, an ultrasound scan will be recommended. DR (sensitivity) is 85%, FPR (False positive rate) is 0.2%. The Down Syndrome detection rate is 84.80%, and 84.8% of women will have a positive result. The remaining 15.8% may be pregnant with Down’s Syndrome, even if the result is negative. FPR is 2.2%. That is, even though the pregnancy is not a pregnancy with Down syndrome, 2.2% of pregnant women will still have a positive screening result. The OAPR is 1:9, meaning that for women in the positive screening group, every 9 pregnancies will be unaffected and 1 will be affected.
Sample: Venous blood from arm. It does not require hunger.
Working day: Every day
Result Time: 2 days 18:00
