This forum is for questions and support regarding
Down Syndrome issues such as Dental Problems, Communication Problems, Developmental Disabilities, Hearing Loss, Hypothyroidism, Immune System Problems, Learning Disabilities, Joint Problems, Muscle Weakness, Respiratory Disorders, Seizures, Sleep Apnea, Weight Problems.
Ultrasound. The doctor uses ultrasound to measure a specific region on the back of a baby's neck. This is known as a nuchal translucency screening test. When abnormalities are present, more fluid than usual tends to collect in this tissue.
Blood tests. Results of the ultrasound are paired with blood tests that measure levels of pregnancy-associated plasma protein-A (PAPP-A) and a hormone known as human chorionic gonadotropin (HCG). Abnormal levels of PAPP-A and HCG may indicate a problem with the baby.
When this two-step screening is done during the 11th week of pregnancy, researchers say it can identify 87 percent of babies with Down syndrome. By 13 weeks, accuracy of the two-step screening approach drops to 82 percent.
Traditional second-trimester blood tests, such as the quad screen, are still available to screen for Down syndrome, spina bifida and various other chromosomal disorders. But these tests are done later in pregnancy and aren't as effective as first-trimester screening for Down syndrome.
If a screening test indicates a high risk of Down syndrome, a more invasive test — such as chorionic villus sampling or amniocentesis — may be used to determine whether the baby actually has Down syndrome.
About one in 20 women will have a positive result with any of these screening tests — far more than those who have a baby with a chromosomal abnormality. In fact, most women who have a positive result from a screening test deliver healthy babies.
Please read this last part a couple of times. There are many false positives. I tend to speak for those that get a definite positive and tell them they will love their baby no matter what. A Downs has as much potential as any child.