Your blood is tested, your urine is tested and your growing baby is measured. It’s when you hear after one of these tests that you need “further testing” that the world can come to a complete standstill.

Moomie mom’s story

Moomie mom *Anel Combrink says her blood test for Down syndrome at around 20 weeks pregnant, showed an abnormality. "I can't remember the exact figures but mine was something like one out of 169 chance that I could have a Down syndrome baby. It was strange, because I was only 27 years old at the time. I went for the subsequent sonar. Although everything showed up as normal when the sonographer measured my baby, I was still worried. I was told that even though everything shows up normal, I could still have a Down syndrome baby after what my blood test results showed."

Anel says at the time she and her husband had to decide whether they would go forward with an amniocentesis. "There were no other options. I have since heard of the Panorama test where they do blood tests before an amnio but at that stage, I didn't know of any other options. We also had to make the decision for an amnio within a week. I decided to go ahead with it."

Risk to your unborn baby

She recalls she was very, very scared. "I read up a lot on Google. Every person's story is different. It's a needle that goes into your womb and I was already so afraid of needles! There's a risk to your baby, a risk that the hole they make when they subtract the fluid doesn't close properly and also a risk of miscarriage. When I received the amnio, I knew I had to keep calm. It wasn't painful, just very uncomfortable. I could feel the needle go in."

Looking back, the worst part for her was that they had to wait five weeks before they received the results. "It's actually amazing now that I think of it. My husband and I always thought we would never be able to cope with a Down syndrome baby. During those five weeks, our whole outlook changed. We made peace with the fact that whatever the results showed, we already love our baby and there's no way that we would have terminated the pregnancy. I think I just wanted to know, in order to be prepared. When we received the results, it all came back as normal. It was such a relief that the whole ordeal was over."

Anel is now 34 weeks pregnant with her second baby. "If I have the choice now, I won't do an amnio again. I would do a blood test if I had to but I won't risk my child's life again. Yes, you want to be prepared, but I risked my baby's life in order to know. The invasive testing for me was very stressful and traumatic."

Avoiding stress 

And stress is one thing you have to avoid when pregnant. But what do you do if your doctor advises you to have more tests done? Fortunately, as Anel mentioned, there is now a new type of non-invasive prenatal screening, the Panorama prenatal screening test. It can give you peace of mind through a simple blood test. 

Libby Valenti, a Certified ​Genetic Counselor and ​Medical Science Liaison at Natera and spokesperson for Panorama, says this tests performs with much higher accuracy than previous screening methods, while assessing your child’s risk for Down syndrome – as well as many other conditions that standard screening tests already look for.

“All it takes is a simple blood draw after your ninth week of pregnancy,” explains Libby. “The Panorama prenatal screen analyses fragments of cell-free fetal DNA circulating in the mothers’ bloodstream. Panorama can be performed as early as nine weeks into a pregnancy and screens for many commonly seen genetic conditions like Trisomy 21, also known as Down syndrome. The best part of this screening is that Panorama may prevent an unnecessary invasive diagnostic procedure.”

A lot of false positives

He says a clinical validation study found that Panorama will deliver a correct high-risk result for Down syndrome 91 percent of the time. To compare, the standard first trimester screen will deliver a correct high-risk result for Down syndrome only three to four percent of the time. "There are a lot of false positive results​ with traditional Down Syndrome screening tests​,” says Libby. "False positives are obviously a large source of unnecessary stress for pregnant women."

Panorama is clinically validated to perform equally well in average- and high-risk pregnancy populations and has the highest published accuracy for fetal sex of any NIPT in validation studies.[1]

To help you and your doctor understand the results, Natera provides complimentary 15-minute pre- and post-test genetic information sessions for all potential Panorama patients. They can be scheduled by visiting http://www.panoramatest.com/genetic-info-session.

If you wish to learn more about how to obtain Panorama in South Africa, please reach out to the following laboratories:

Lancet Laboratories

Anita Sardini

Tel: 082 331 9905

Email: anita.sardini@lancet.co.za

Pathcare Reference Laboratory

Ingrid Howes

Tel: 021 596 3400

Email howesi@pathcare.co.za