Why Every Couple Needs Genetic Testing

By June 9, 2021Unity Test

When Chika was pregnant with her first child in 2019, she became worried after an ultrasound scan at 12 weeks and another screen test at 16 weeks revealed what doctors considered a “positive screen” for possible spinal muscle atrophy  – a muscle wasting disease in infants.

 She had another ultrasound and genetic counselling at 17 weeks, and was later referred for an amniocentesis. But just before she had the test, a colleague told her about the Unity Test which she (the friend) had benefitted from.

After consulting with a genetic counsellor, Chika opted for the UNITY Test and when the result was released it was negative for spinal muscle atrophy. The UNITY Test is a – a non-invasive prenatal test – which tests the DNA of tiny particles of the placenta circulating in the mother’s blood. The test screens the mother and the baby for commonly inherited conditions from a single tube of blood. 

The Test offers many benefits, especially for mothers considered high-risk – from better care and treatment for their babies and themselves to peace of mind. 

Chika was initially alarmed by the positive screen, but was relieved after opting for the Unity Test which turned out negative for spinal muscle atrophy. But had the test turned out positive, Chika would have been well prepared ahead for the care and special needs the child would have required, rather than feeling completely caught off-guard at the birth of the child.

Nike was 35 when she got married and as soon as she became pregnant a couple of months later, she was classified in the higher-risk category. Her doctor advised that she should undergo 1st and 2nd trimester screening tests, including blood tests, ultrasounds and genetic counselling. Nike had a family history of cystic fibrosis but the main reason for undergoing screening was peace of mind. The results of the tests weren’t going to change anything about the pregnancy, apart from helping to prepare her for the outcome. 

She paid for the UNITY test that would indicate whether her baby was going to have the disease or not. She also agreed to be screened for some other rare conditions at the same time. 

A few days after she signed up, Nike had the Test. The testers took a tube of blood from her arm and although she didn’t get to know the gender of her baby yet, the fact that everything was at the lowest risk possible more than made up for that. 

It was easy and a great peace of mind and Nike and her spouse were so glad that her doctor had recommended a procedure so simple and safe. For her, the peace of mind is invaluable. If there had been negative results it would have been better to deal with the implications sooner rather than later.

Like Chika and Nike, Remi  was overjoyed when she became pregnant about a year ago.  She was 29 and had had established that her genotype was AS, meaning she had the sickle cell gene. This was significant and Remi was particularly worried because Dayo, her 32-year-old husband also had AS genotype. The couple had been married close to two years before Remi conceived and even though both of them were overjoyed that their first child was on the way, there was palpable anxiety that the baby might be born with the sickle cell gene (SS genotype).

Remi and Dayo did not want to have a baby with sickle cell disease, but they had accepted that even if they ended up with a baby with the disease, knowing about it ahead would enable them to prepare.  

It was a good thing that Remi wanted to be prepared ahead, but she was paranoid about invasive diagnostic tests such as aminocentesis. One of her cousins that went through the procedure sometime in the past suffered a miscarriage. Remi was conscious of this and immediately dismissed any thought of going through with the test. 

Amniocentesis is carried out during pregnancy to assess whether a baby has an abnormality or serious health condition. The test can detect various abnormalities and genetic disorders. During the test, a small part of the amniotic fluid is removed from the uterus using a long, thin needle. Amniotic fluid is the fluid that surrounds and protects a baby during pregnancy and it contains fetal cells and various proteins. 

 Remi was not looking forward to undergoing aminocentesis, she went through counselling and learned that there was a simple non-invasive test -the UNITY Test – for mother and for the baby that provided results within few weeks. She was told that all that is required for the test is one tube of blood from her arm. 

The couple also learned that the UNITY Test is fast, cheap and safe. A sample is not required from the father to assess the fetal risk assessment method which is non-invasive.

The test is in two steps. First the carrier status of the mother is ascertained, if there is established risk, the status of the fetus is then determined. 

The couple was fascinated and still considered the idea that they wanted to know if there was a chance that the baby had sickle cell disease and considered paying privately for the non-invasive test. 

However, Remi was not keen. She was still overwhelmed by her cousin’s experience and even though she would not do an amniocentesis, she was terrified to try the non-invasive UNITY Test. 

Months later, Remi and Dayo’s baby was born healthy and free of sickle cell disease but it would have been a good thing if she had been able to know in advance what to expect so that she would have been prepared. It was really great she had a healthy baby, and even if the result had been otherwise, it would have been worth it all the same.

Courtesy of the UNITY Test, Remi would have acquired access to information that would verify her baby’s risk factors before birth and afterwards. The information would help to guarantee the child’s health and her own peace of mind as well as her husband’s.

It gives peace of mind of knowing what to expect when a baby is born. Knowing what to expect would have taken a lot of the stress off of the pregnant woman.