Frequently Asked Questions
My Blood test was positive for Down syndrome. What does this mean?
The nuchal translucency test, the triple screen and the quad screen are all screening tests—that means they tell you the odds that your child could have Down syndrome. There is no “positive” blood test for Down syndrome so what you probably have is an elevated risk factor. The only way to know for sure is to have a diagnostic test—either a Chorionic Villus Sampling (also known as a CVS) or Amniocentesis (Amnio).
There is a new test at 10 weeks pregnancy that can tell if there is a chance for Down syndrome.
At my twenty-week ultrasound, the doctor saw several “soft markers” for Down syndrome. What does this mean?
This does not mean definitively that your child has Down syndrome. There are a few soft markers such as nuchal fold thickness (skin behind the neck), cardiac defects, duodenal atresia, short femurs, etc., that indicate an elevated chance of Down syndrome.
I just had an amnio and was told my baby will have Down syndrome. Is there a chance the amnio could be wrong?
An amnio, like a CVS, is 99.9% accurate.
Are there other tests that I should consider before my baby is born?
Your OBGYN may suggest that you have a pediatric cardiologist perform a fetal echocardiogram to rule out a cardiac malformation. A gastro intestinal screening of the baby while in utero is also often recommended to parents.
Will I need to deliver in a special kind of hospital, or have specialists present at the birth?
Generally, no. Though you may want to make sure that the hospital has a NICU, due to possible cardiac complications.
Will my baby have to go into the NICU when he/she is born?
Not necessarily. Like any newborn baby, if the baby presents with a medical issue that warrants hospitalization, the baby will be admitted to the NICU. The diagnosis of Down syndrome alone does not mean your baby has a medical condition. Some doctors will admit a newborn baby with Down syndrome to the NICU for observation.
What is Early Intervention?
Early intervention is a system of services that helps babies and toddlers with developmental delays or disabilities. Early intervention focuses on helping eligible babies and toddlers learn the basic and brand-new skills that typically develop during the first three years of life. The Arc of Essex County’s Stepping Stones School provides a center-based Early Intervention Program. The state of New Jersey provides home based Early Intervention Programs including The Arc of Essex County’s Shapiro Center.
Should I contact Stepping Stones Center Based Early Intervention before my child is born?
Yes. The advantage of knowing ahead of time that your child will have Down syndrome is that you can have these services in place before he/she is born, so yes, please do get them set up by contacting The Arc of Essex County’s Stepping Stones Early Intervention Program: 973-535-1181 ext. 1223. Through the Stepping Stones Early Intervention Program you and your baby will be a part of a nurturing, supportive, and learning environment. Parents have consistently reported that – whether their child is in utero or a few weeks old – the knowledge and support received by our professional staff is invaluable.
Should I contact New Jersey Early Intervention before my child is born?
No. New Jersey Early Intervention is not available until your child is born and home from the hospital.