Nuchal Translucency Test and Integrated Screening

We just received the results of a battery of tests that screens for genetic risks and possibly determine whether or not a baby has any of the following:

• Down Syndrome (DS)
  
• Trisomy 18
• Neural Tube Defects, such as Spina Bifida or Anencephaly
• Other various Genetic Disorders

The screening is a time-sensitive, multi-step process. First we went for a high-resolution ultrasound when we were 12 weeks along. At this time they did an initial check of the baby's anatomy, a crown-rump length to measure the size of the baby for it's gestational age, as well as a nuchal translucency (NT) screening. The NT measures the water present in the back of the baby's neck. Too much water can be a risk factor for DS.

Once the ultrasound was done, we did a little blood draw. The labs measure the amount of two protiens in my blood - proteins normally found in pregnant women:

• Free 8-hCG
• PAPP-A

We then compare these blood levels with a second blood draw at 15 weeks, which we did last week. Together, these tests catch about 85% of positive genetic and spinal defects, leaving parents with positive results time to consider the problem that is present and either decide to terminate or prepare themselves for a child with special needs.

The doctor just called and we are happy to report that all of our tests came out negative. Just thought we'd share the good news!

If you are interested in reading more about this screening process, follow these links:

Nuchal Translucency
Integrated Screening