At our hospital, only Genetic Counselors have the ordering privileges to order noninvasive prenatal testing (NIPT). We had to receive a referral from our Maternal Fetal Medicine doctor to schedule a consult with the Genetic Counselor to have this testing completed. A lot of steps! I know some OBGYNs can order NIPT on their own without a Genetic Counselor – I really think this is all dependent on the hospital / private practice.
After receiving our referral / scheduling our consult, we met with the Genetic Counselor.
At the appointment, the Genetic Counselor:
- Asked about Our Family Histories
a. Chronic Disease States (Hypertension, Diabetes) b. Intellectual Disabilities (If they were in our family) c. Each of our Health Histories 2. Reviewed the results from the Nuchal Translucency ultrasound 3. Reviewed the results from my First Trimester Screen Bloodwork 4. Reviewed the differences as well as the risks/benefits between NIPT (screening) and Amniocentesis (diagnostic) 5. Ordered the MaterniT21 PLUS test (Bloodwork)
The MaterniT21 PLUS test is a comprehensive NIPT for pregnancies at increased risk of fetal abnormalities to analyze chromosomal regions including trisomies 21, 18, and 13 as well as fetal sex. With one vial of blood, the test can detect small amounts of DNA in the bloodstream from the placenta that may identify if there is an increased chance of certain chromosomal abnormalities that can affect your baby’s health and development. Unlike the First Trimester Screen Bloodwork, NIPT is 99% accurate as it is analyzing your DNA and your baby’s DNA.
Immediately after the consult, I went to the lab for the bloodwork. The Genetic Counselor had said the results are not completed at the hospital so could take 8-10 days to result back. If I received a notification on my online patient chart, the results were good news. If I received a call from my Maternal Fetal Medicine office, the results may require diagnostic testing.
After 5 days, I received a notification on my online patient chart! Thankfully, the MaterniT21 PLUS test was negative for all chromosomal abnormalities. At this time, we also learned the fetal sex was consistent with male!
Overall, I am happy we did this test. The results gave us peace of mind. Of note, this test can still be completed without resulting the fetal sex. Communicate to the ordering physician that you want this to be a surprise and he / she can remove this order from the results!
Below are two examples of how the MaterniT21 PLUS test will result.
