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NIFTY: Beginning of the end for Down Syndrome

By Sola Ogundipe

Peju battled with infertility for over five years before taking the plunge with IVF in a London fertility treatment centre. At 34, she became pregnant with her first child; unfortunately she suffered a first trimester miscarriage. Almost a year later when she got pregnant again following another IVF cycle, she opted to undergo NIFTY—a non-invasive prenatal test (NIPT).

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“Because I had once lost a pregnancy through miscarriage with my first pregnancy while in the UK, and had experienced some other issues previously, a couple of my personal doctors had advised me to undergo the prenatal test as a precaution when next I got pregnant,” Peju explained during an encounter.

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“Before then I had never heard about NIFTY, but was told the test would provide useful information about the health of my unborn baby so that we would be prepared in the event that the baby would have potential chromosomal conditions particularly Down syndrome.”

By the time she got pregnant again, Peju had returned to Nigeria.

“We were proactive about taking the test and were really glad to discover through friends and some medical doctors that the NIFTY test is available at a centre in Lagos. I was about eight weeks pregnant at that time, but learned that best results are obtainable from 10 weeks of pregnancy,” Peju explained.

She and her spouse were excited and spoke to several medical experts including couples that had undergone the test in Nigeria.

“I went for the test. It was easily administered, and we received the results within a fortnight even though the sample had to be flown abroad for diagnosis. I’m happy to say the screening provided the information that we sought,” Peju observed, pointing out that gathering such information during pregnancy should not be overlooked.

“Couples should be interested in NIFTY for a variety of reasons,” said Dr. Abayomi Ajayi, the Chairman of Genomix Nigeria Ltd., an independent company that has sole franchise to the NIFTY test in Nigeria.

NIFTY is appealing as it’s a simple blood draw–quick, relatively painless, with no risk to the pregnancy—and it can be done in the first trimester. It is a highly accurate non-invasive prenatal test (NIPT) that can be done as from the 10th week of pregnancy, for chromosomal aneuploidies (abnormalities) or the most common trisomies present at birth, including trisomy 21 (Down Syndrome), trisomy 18 (Edwards Syndrome) and trisomy 13 (Patau Syndrome),” Ajayi noted.

The test was among was the first NIPT that were clinically tested and has been validated by a study on nearly 147,000 pregnancies. Currently, over 3 million tests have been carried out worldwide. Genomix Nigeria Ltd. has sole franchise in Nigeria for NIFTY.

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“The test is very safe, can be done early, fast and accurate (over 99 percent sensitivity for the trisomy conditions. It is suitable for every woman. All that is required is the peripheral blood sample,” Ajayi stated.

He explained that NIFTY ensures that the number of women undergoing unnecessary invasive diagnostic procedures is significantly reduced and helps to give some peace of mind.

“What we are looking for are chromosomal abnormalities that we call aneuploidies. These are abnormal chromosomes. In every human being there are 23 pairs of chromosomes. From 1 to 23, there could one chromosome instead of the pair or there could be three chromosomes instead of two. This is known as aneuploidy and the effect depends on which chromosomes it happens.”

According to Ajayi, almost all aneuploidies are not compatible with life, except for the three in the first 22 chromosomes. “That we can even have the child born alive is significant, these conditions (called trisomies) are in chromosomes 13, 18 and 21 (trisomy 13, trisomy 18 and trisomy 21). Unfortunately in trisomy 13 and trisomy 18, the child would last for only a while and die. In trisomy 21 (mongol) the child can live for long but would have some issues.

“In a nutshell, NIFTY gives insight about some of the chromosomal abnormalities a child can be born with. It is non-invasive because the sample is drawn from the woman’s blood unlike what we had before that we used samples from the baby that was invasive and this led to outcomes that were not wanted, such as infection, miscarriage, etc.

“The basis of the NIFTY is that we have now found that there is free foetal DNA in the pregnant woman’s blood, and for the reading to be accurate at least 4 percent of the DNA in composition of fetal blood in the mother’s blood at 10 weeks upwards for it to be conclusive.”

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He said the purpose of the test is that if there is indication of abnormality, it is confirmed afterwards by amniocentesis, which involves taking the amniotic fluid from the foetus and testing.

“What attracted me to be interested to this test was a woman that got pregnant after IVF and went to deliver in the US. She went for the prenatal test and amniotic fluid was used.  They checked and said there was no problem until about 34 weeks afterwards when the baby was delivered and found to have Edwards syndrome. The baby eventually died. If they had done prenatal screening with NIFTY, they would have had critical information to make an informed decision.

“This technology is available in Nigeria. The maternal blood is drawn at 10 weeks gestation and the sample is handled by Genomix Nigeria Ltd and a sister company helping to manage the process of sending the samples abroad. In 10 days the result is sent back.

Ajayi said the aim is to look out for aneuploidies which are commoner in older women, and even younger women with a family history of previous births with a chromosomal abnormality.

“It is best for every woman to do this test in order to avoid the unexpected. The danger of trying to limit the test is that sometimes, chromosomal abnormalities happen out of the blues.”

Also speaking, Mr Onuora Molokwu, the Marketing Consultant, Genomix Nigeria Ltd, said the test should be done early so that decisions can be taken early.

“It is not a diagnostic test, but a screening test that tells you that the foetus has an increased risk for a particular genetic disorder, if it is positive so you now have to do a diagnostic test. The screening is not invasive, but the diagnostic test is invasive.”

Molokwu said what NIFTY does is to ensure that couples that are about to have a baby have a better chance of knowing health conditions they could face early enough instead of waiting till the child is born before discovering the abnormality.

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“If there are abnormalities that are life threatening, you can take a decision and if the abnormalities are not life threatening, then you are better prepared for the consequences. The choice is yours to make when you discover. Down syndrome is very common. It is one of the biggest aneuploidies compatible with life, so this is one of the major tests that people should be worried about.

“We are saying it should be done early so that decisions can be taken early. Before the test, there is pre-screening counselling, where you need to know the implications of the results and your options, so that you can make up your mind, If you go into it you are ready, so as much as possible we encourage people to do it early. The decision is up to you.”

Explaining that the test is affordable, Molokwu noted: “We are advising that almost every potential pregnant woman needs to screen for these conditions so as to reduce issues of Down syndrome which hopefully, may soon be wiped out. Down syndrome is a very expensive condition to maintain and it is helpful to have information about it so as to be prepared.

“Information that you have early is critical, however, the decision that you take is still up to you. We are not removing the fact that it cannot happen, what we are saying is that you need information to make informed choices.

“What we are doing is letting you know implication of not doing the test and what can go wrong if you don’t screen.

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