Down syndrome is one of the commonest abnormalities in Nigeria and has been termed a public health concern. In an interview with the Marketing Consultant, Genomix Nigeria Ltd, Onuora Molokwu, he said the chromosomal abnormality can be eradicated in Nigeria if pregnant woman opt for NIFTY test, which is the Non Invasive Prenatal Test. In this interview with Martins Ifijeh, he further revealed that the test can also tell the sex of the baby even at the tenth week of pregnancy. Excerpts:
What is NIFTY?
It is a Non Invasive Prenatal Test (NIPT), which means the test can be done by taking the woman’s blood and then check whether or not a baby has chromosomal abnormalities in the formative stage. Before now, the method used in ascertaining it usually comes with some side effects. So with improved technology, we can now take blood samples of pregnant women who have been pregnant from 10 weeks upward and then conduct the test. So if that child has some abnormalities, you can either decide whether or not you want the pregnancy.
This test ensures a couple who want to have babies have better chances of knowing what to face in future, instead of waiting till the child is born before they know whether the child is normal, has Down syndrome or other forms of abnormalities.
How are these tests done through the woman’s blood when the baby’s DNA is actually what is needed?
The test is called non invasive because it is not surgical. It is taken from the blood of the woman unlike what usually obtains where you have to get samples from the baby in the uterus, which could result sometime in miscarriage or infection. So now we don’t have to do that because there is free fetal DNA in the mother’s blood.
And for the DNA reading to be sensible, you need at least four per cent of it in the mother’s blood, which can be gotten at about 10 weeks of pregnancy. What we are looking for are chromosomal abnormalities, and we call them aneuploidies.
Every human being has 23 pairs of chromosomes. All the abnormal ones are not compatible with life except for three, which means despite the abnormalities, these three means the child born alive; they are the chromosomes 21 (Down syndrome), 18 (Edwards syndrome) and 13 (Pauta syndrome). Unfortunately, for chromosome 13 and 18, the child will last only for few months and die, but for Down syndrome, the child can live for long.
What else can the technology test for?
The NIFTY can also tell the sex of the baby even at the tenth week of pregnancy; which means the couple will not have to wait till five months before they know the sex of their child.
Research is presently on going to ascertain other things it can be detected, for instance sickle cell disorders. That however is still work in progress. So the NIFTY is a screening test, it is not a diagnostic test?
How is NIFTY screening test different from a diagnostic test?
The NIPT test will tell you the foetus has an increased risk of a particular abnormality. Then you will now have to do a diagnostic test to confirm.
Does every pregnant woman require this test?
Yes they do. Before, what we used to do is that once the mother has a risk factor, like previously having a child with abnormality or she is of a particular age, we do this test, but now it is advisable every pregnant woman do it. In some countries they have started doing it for everybody. Countries like Netherlands first started with people who are at risk of chromosomal disorders, but now they do it for every pregnant woman.
I thought the blood of the foetus and the mother is separate. How come NIPT can be done using the mother’s blood?
The peculiarity in the human placenta is that it is like a parasite to the human body, such that it attaches and invades the woman’s body.
Is this technology available in Nigeria?
Yes. It is now available in Nigeria. Genomics Nigeria Limited, an independent company, has the sole franchise for the NIFTY test in the country. When the screening is done, the blood samples are then sent abroad and in 10 days the client gets the result.
Nifty is a brand managed solely by Genomics in Nigeria. The NIPT is the generic name for this kind of test.
Situation where you find out there is a possibility of abnormality, are there ways to correct it in the foetus?
No there are not. Let’s get it right; structural deformities can be corrected, but this is at the level of the chromosome which cannot be corrected.
But there is genetic altering. Why can’t it help in this regard?
Gene editing is the newest kid on the block, but that is not done yet. For now, it is unethical, because it can be used to do a number of good and bad things. Have you seen what is happening with GMOs now? that can also be done in humans; imagine creating a human that can never get tired or even sweat, if allowed, it can be used to create terrible things as well, that is why for now it is not allowed.
What are the conditions in our environment this technology is likely to help address?
This test detects if a child will have Down syndrome. It is the commonest aneuploidies compactable with life, and this is a common abnormality in Nigeria. With the NIFTY test, Down syndrome will be a thing of the past. What this test looks out for are chromosomal errors.
The danger of trying to limit this kind of test to some people is that chromosomal abnormalities can happen from the blues. That is why it might end up being a test every pregnant woman should do. All of us carry chromosomal abnormalities we do not know. Once it’s not dominant you are good.
Since couples can decide to do away with the pregnancy at 10thweek if they realised there are aneuyploidies, what would you advise for couples who had the test at 6th month and find out there are aneuploidies?
That is why we are saying everybody should do it early when it is earlier to make decisions. Before you do the test at all, there is pre screening counseling where you need to know the implication of the test; what can be the results, what can be options if the test shows positive, and so on. At that point, the couples are already for whatever comes. As much as possible we encourage people to have it early.
A lot of babies die before they are born because the seed is not good. Some even die months after birth. n the uterus. Some patients will argue with you that their babies were healthy two weeks ago, and want you to explain how he or she now died; meanwhile the baby may have aneuploidies not compactable with life.
One of the clues to even advise pregnant women to do the test is when such woman has lost one, two or more pregnancies. It might just be there is a chromosomal abnormality somewhere. Such people are advised to take the test before they even go too far?
How expensive is this test?
It is an affordable test. With N160, 000 it can be done. If you take it as a priority and you imagine how much it will cost to raise a child with Down syndrome, you will know the test is not expensive at all. One of the issues we have in this part of the world is we do not take our health as priority. Cost is about what is important to you. If you have a baby with Down syndrome, you will know how much it cost to look after him or her, and such baby will almost likely not give you any return on investment in the future.
Do you think this will be accepted in Nigeria?
With this test, Down syndrome can be wiped out in Nigeria. Do you know how many people have Down syndrome in Nigeria? This is a very expensive condition to look after. So the idea is so we can prevent it.
In Nigeria, there are couples who may not want to discard the pregnancies because of religious or cultural belief.
What advice would you tell such couples?
Well, ‘God will do it’ is also an option, but when the result comes be ready to accept it. The decision you take is still up to you. It is like seeing couples who are AS and AS. Their decision to go ahead with the marriage is up to them. So if they have SS children, they will also live with the outcome. Even if you say you will pray about it, at least you know exactly what you are praying for. You won’t pray amiss if you already know your pregnancy may turn out to produce a child with Down syndrome.