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With Nifty Test, You Can Safely Screen Your Unborn Baby for Edwards’ Syndrome

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Edwards’ syndrome, also known as trisomy 18, is a rare but serious condition that affects how long a baby may survive. There’s no cure for Edwards’ syndrome and sadly, most babies with the disease will die before or shortly after being born and just a small number of babies born alive with Edwards’ syndrome will live past their 1st birthday.

The disease is linked to chromosomal abnormalities. Normally, each cell in the body contains 23 pairs of chromosomes, which carry the genes you inherit from your parents. A baby with Edwards’ syndrome has three copies of chromosome number 18 instead of two and this affects how the baby grows and develops. Having three copies of chromosome 18 usually happens by chance, because of a change in the sperm or egg before a baby is conceived.

Essentially, your chance of having a baby with Edwards’ syndrome increases as you get older, but anyone can have such a baby. The condition does not usually run in families and is not caused by anything the parents have or have not done.

The symptoms of Edwards’ syndrome and how seriously a baby is affected, usually depend on whether they have full, mosaic, or partial Edwards’ syndrome.

Most babies with Edwards’ syndrome have an extra chromosome 18 present in all cells. This is called full Edwards’ syndrome. The effects of full Edward’s syndrome are often more severe and most babies with this form of the disease will die before they are born.

A small number of babies with Edwards’ syndrome (about 1 in 20) have an extra chromosome 18 in just some cells and this type is called mosaic Edwards’ syndrome or mosaic trisomy 18.

This can lead to milder effects of the condition, depending on the number and type of cells with the extra chromosome. Most babies with this type of Edward’s syndrome who are born alive will live for at least a year, and may also live to adulthood.

A very small number of babies with Edwards’ syndrome (about 1 in 100) have only a section of the extra chromosome 18 in their cells, rather than a whole extra chromosome 18. This is called partial Edwards’ syndrome or partial trisomy 18. How partial Edwards’ syndrome affects a baby depends on which part of chromosome 18 is present in their cells. All babies born with Edwards’ syndrome will have some level of learning disability.

Edwards’ syndrome is associated with certain physical features and health problems. They will usually have a low birthweight and may also have a wide range of physical symptoms and may also have heart, respiratory, kidney or gastrointestinal conditions.

Screening for Edwards’ syndrome is often advised for new and old couples alike. If you’re pregnant, you can be offered screening for Edwards’ syndrome between 10 and 14 weeks of pregnancy. This looks at the chance of your baby having the condition. There are different screening tests but the only non-invasive test that can detect this condition is the  NIFTY (Non-Invasive Fetal TrisomY) prenatal test. 

Unlike invasive tests such as the chorionic villus sampling (CVS) which collects a sample from the placenta and amniocentesis, which collects a sample of the amniotic fluid from around your baby, the NIFTY Test poses no risk to the mother or the unborn baby because it is 100 percent non-invasive. 

The NIFTY Test is a safe, simple, non-invasive prenatal test (NIPT), which offers screening for certain genetic conditions such as Edwards’ syndrome from as early as week 10 of pregnancy.

Using the latest genetic sequencing technology, NIFTY has over

99 percent accuracy for the three most common trisomy conditions present

at birth – Edwards’ Syndrome, Down Syndrome and Patau Syndrome. The test is currently available in Nigeria only at Genomix. 

The procedure is affordable, simple, convenient, safe for mother and baby and the results are fast produced. It utilizes cell-free DNA fragments which are short fragments of DNA, that are circulating in the blood. 

During pregnancy, the fragments originating from both the mother and fetus are present in the maternal blood circulation.

The NIFTY test requires taking a small maternal blood sample and analysing to screen for chromosomal abnormalities in the fetus. The technology behind the NIFTY test enables highly accurate results with detection rates. 

If the test result is positive for Edwards’ syndrome before birth, you’ll have opportunity to be offered support and information so that you can make informed decisions. 

Advantages of Non-Invasive Prenatal Testing (NIPT)

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Prenatal testing or screening can provide valuable information about your baby’s health and can identify whether your baby is more or less likely to have certain birth defects, many of which are genetic disorders. 

These tests can be invasive or non-invasive in nature and they are usually offered during the first or second trimester of pregnancy. They include blood tests, a specific type of ultrasound and prenatal cell-free DNA screening. 

What is Non-Invasive Prenatal Testing? 


Non-invasive prenatal testing (NIPT), or sometimes called non-invasive prenatal screening (NIPS), is a method of determining the risk that the fetus will be born with certain genetic abnormalities. NIPT is a blood screening that the doctor may offer any time after 10 weeks gestation during your pregnancy. 

The testing analyzes small fragments of DNA that are circulating in a pregnant woman’s blood. Unlike most DNA, which is found inside a cell’s nucleus, these fragments are free-floating and not within cells, and so are called cell-free DNA. 

During pregnancy, the mother’s bloodstream contains a mix of cell-free DNA that comes from her cells and cells from the placenta. The placenta is tissue in the uterus that links the fetus and the mother’s blood supply. These cells are shed into the mother’s bloodstream throughout pregnancy. 

The DNA in placental cells is usually identical to the DNA of the fetus. Analyzing cell-free DNA from the placenta provides an opportunity for early detection of certain genetic abnormalities without harming the fetus.

Why is NIPT considered non-invasive? 

NIPT is considered non-invasive because it requires drawing blood only from a pregnant woman and does not pose any risk to the fetus. Essentially, NIPT is a screening test, which means that it will not give a definitive answer about whether or not a fetus has a genetic condition. 

The test can only estimate whether the risk of having certain conditions is increased or decreased. In some cases, NIPT results indicate an increased risk for a genetic abnormality when the fetus is actually unaffected (false positive), or the results indicate a decreased risk for a genetic abnormality when the fetus is actually affected (false negative). 

Because NIPT analyzes both fetal and maternal cell-free DNA, the test may detect a genetic condition in the mother.

What disorders can NIPT screen for?

NIPT is specific and doesn’t screen for every genetic condition. Most often it is used to look for chromosomal disorders that are caused by the presence of an extra or missing copy (aneuploidy) of a chromosome. 

Specifically, the NIPT test primarily looks for:

  • Down syndrome – trisomy 21, caused by an extra chromosome 21
  • Edwards’ syndrome – trisomy 18, caused by an extra chromosome 18
  • Patau syndrome – trisomy 13,- caused by an extra chromosome 13
  • Klinefelter syndrome – caused by an additional X chromosome
  • Turner syndrome – caused by a missing or partially missing X chromosome

These are all genetic conditions that can cause developmental delays and physical or mental defects. The accuracy of the test varies by disorder.

NIPT may include screening for additional chromosomal disorders that are caused by missing (deleted) or copied (duplicated) sections of a chromosome, and now it is beginning to be used to test for genetic disorders that are caused by changes (variants) in single genes. It is expected that NIPT will become available for many more genetic conditions.

How is NIPT test carried out? 

There must be enough fetal cell-free DNA in the mother’s bloodstream to be able to identify fetal chromosome abnormalities. The proportion of cell-free DNA in maternal blood that comes from the placenta is known as the fetal fraction. 

Generally, the fetal fraction must be above 4 percent, which typically occurs around the tenth week of pregnancy. Low fetal fractions can lead to an inability to perform the test or a false negative result. 

To determine chromosomal aneuploidy, the most common method is to count all cell-free DNA fragments (both fetal and maternal). If the percentage of cell-free DNA fragments from each chromosome is as expected, then the fetus has a decreased risk of having a chromosomal condition (negative test result). 

If the percentage of cell-free DNA fragments from a particular chromosome is more than expected, then the fetus has an increased likelihood of having a trisomy condition (positive test result). A positive screening result indicates that further testing (called diagnostic testing, because it is used to diagnose a disease) should be performed to confirm the result.

What are the benefits of NIPT?

  • Non-Invasive Prenatal Testing (NIPT) can offer important clues about your developing baby’s health.  
  • The test may help you make informed healthcare decisions for your child, both while the baby is in the uterus and after birth
  • Can tell you if you are at higher risk of having a baby with Down syndrome, Edwards’ syndrome, Patau syndrome,  Klinefelter syndrome  and Turner syndrome
  • More than 99 percent accurate. False positives or false negatives rarely occur
  • Fast (results within 10 working days)
  • Affordable (inexpensive and only a tube of maternal blood is required) 
  • Safe because it is non-invasive, so poses no miscarriage risk or any other risk to the mother or the baby

Who should have Non-Invasive Prenatal Testing?


NIPT is a blood screening your doctor may offer any time after 10 weeks gestation during your pregnancy. Most often, your doctor will recommend the testing if you are at higher risk of carrying a child with a chromosomal abnormality. 

You are more at risk if you are 35 or older, you have a prior pregnancy with a chromosomal condition or you have abnormal test results from other tests or screening. But you may also opt for the testing if you don’t have risk factors. 

What can the NIPT results tell you?

We have explained above that NIPT works by analyzing cell-free DNA which is made up of maternal, fetal and placental DNA in your blood. 

The testing also looks at the number of your baby’s sex chromosomes, which can tell you whether you’re having a boy or a girl. If it finds extra or missing sex chromosomes, that also may signal a genetic condition.

While the test is a safe way to screen for the three chromosomal conditions, it can’t tell you for sure whether your child will have one of them. It’s a non-diagnostic test. 

If results indicate an increased risk for a genetic disorder, your doctor may encourage you to meet with a genetic counselor who can help you better understand your results and will discuss options for follow-up, including diagnostic tests and additional imaging.

So in a nutshell, NIPT can tell you:

  • Risk of your baby for a genetic disorder
  • Whether you need to go for a diagnostic test or see a genetic counselor 
  • Sex (gender) of your baby

Is NIPT available in Nigeria? (NIFTY and UNITY tests) 

The NIPT test is carried out by Genomix, Nigeria’s leading provider of innovative healthcare and lifestyle solutions based on preventive genetic testing. 

Genomix is based in Lagos. It enables pregnant women to have access to safe, accurate and affordable prenatal screening for the listed genetic conditions.  It routinely carries out the NIFTY test which is its own patented NIPT test and conveniently screens for the above-listed genetic conditions caused by extra or missing genetic information in the baby’s DNA. 

Genomix also carries out the UNITY test which is its patented highly accurate NIPT test that screens for cystic fibrosis, spinal muscular atrophy, sickle cell disease, alpha thalassemia, and beta-thalassemia.

The UNITY NIPT is the only test that screens mother and baby for the five commonly inherited conditions from a single tube of blood.

Facts About Sickle Cell Disease – What You Should Know

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Sickle cell disease or sickle cell anemia is the most common genetic blood disorder. It is a genetic disease of red blood cells. It occurs when a child receives a sickle cell trait from each parent and affects millions of people worldwide, particularly blacks.
Sickle cell disease causes red blood cells to “sickle” or become banana-shaped when they are stressed and this can make it difficult for them to flow through blood vessels.
Normally, red blood cells are shaped like discs, which gives them the flexibility to travel through even the smallest blood vessels. However, with this disease, the red blood cells have an abnormal crescent shape resembling a sickle.
This makes them sticky and rigid and prone to getting trapped in small vessels, which blocks blood from reaching different parts of the body. This can cause pain and tissue damage.

Symptoms
Symptoms of sickle cell anemia usually show up at a young age from 4 – 6 months old. These include excessive fatigue or irritability, jaundice, skin, Swelling, and pain in hands and feet, chest, back, arms, or legs, etc.
Delayed growth often occurs in people with sickle cell disease and sexual maturation may also be delayed because the sickle cell red blood cells can’t supply enough oxygen and nutrients.

Types of sickle cell disease
Hemoglobin is the protein in red blood cells that carries oxygen. It normally has two alpha chains and two beta chains. The four main types of sickle cell disease are caused by different mutations in these genes.

Sickle cell trait
People who only inherit a mutated gene (hemoglobin S) from one parent are said to have sickle cell trait. They may have no symptoms or reduced symptoms. Two copies of the sickle cell are required for you to have the disease. If you have only one copy of the gene, you are said to have the sickle cell trait.

Hemoglobin SS
Hemoglobin SS disease is the most common type of sickle cell disease. It occurs when you inherit copies of the hemoglobin S gene from both parents and form hemoglobin known as Hb SS. As the most severe form of SCD, individuals with this form experience the worst symptoms at a higher rate.

Hemoglobin SC
Hemoglobin SC disease is the second most common type of sickle cell disease. It occurs when you inherit the Hb C gene from one parent and the Hb S gene from the other. Symptoms are similar to individuals with Hb SS, however, the anemia is less severe.

Risk factors
Children are only at risk for sickle cell disease if both parents carry the sickle cell trait. A blood test called a hemoglobin electrophoresis can also determine which type you might carry.

Common complications
Sickle cell anemia can cause severe complications, which appear when the sickle cells block vessels in different areas of the body. The painful or damaging blockages are called sickle cell crises. They can be caused by a variety of circumstances, including illness, changes in temperature, stress, poor hydration, and altitude.
Some neurological complications such as seizures, strokes, or even coma can result from blockages in the vessels supplying the affected organ. Since the disease interferes with blood oxygen supply, it can also cause heart problems which can lead to heart attacks, heart failure, and abnormal heart rhythms.
Among other complications are some forms of organ damage such as to the lungs that can result in more frequent sickle cell crises.

Severe anemia
Anemia is a shortage of red blood cells. The sickle cells are easily broken (called chronic hemolysis). The red blood cells generally live for about 120 days but sickle cells live for no longer than 10 to 20 days.

Diagnosis
There are many different types of sickle cell disease, but the Hemoglobin SS type is the most common and is also called sickle cell anemia. It occurs when a person inherits one Hemoglobin S sickle trait from each parent making two overall.
The best way is by screening all newborns For sickle cell disease. Pre-Birth testing also identifies the sickle cell gene in the amniotic fluid. There is also the new noninvasive screening for Sickle cell in pregnancy where the mother’s blood is required to screen for the presence of Sickle cell in the baby being carried by the AS mother.
This blood screening for Sickle Cell is now available in Nigeria.

Patient history
The condition often first appears as acute pain in the hands and feet. Patients may also have severe pain in the bones, anemia, painful enlargement of the spleen, growth problems, respiratory infections, ulcers of the legs and heart problems among others.

Treatment
Some people with sickle cell disease need blood transfusions and red blood cells can be taken from a blood donor without sickle cell disease or sickle cell trait to treat a patient with sickle cell disease. The only proven cure for sickle cell disease is a bone marrow transplant.
A number of different treatments are available. For instance, rehydration with intravenous fluids helps red blood cells return to a normal state. Also, treatment of underlying or associated infections is an important part of managing the crisis that could result from the stress of an infection. Blood transfusions improve transport of oxygen and nutrients as needed. Packed red cells are removed from donated blood and given to patients.
Supplemental oxygen is given through a mask, it is beneficial because it makes breathing easier and improves oxygen levels in the blood.
Pain medication such as over-the-counter drugs or strong prescription help to relieve the pain during a sickle crisis while other drugs help to increase production of fetal hemoglobin. Immunizations help prevent infections because the patients tend to have lower immunity.
However bone marrow transplant is used to treat sickle cell anemia and it is particularly effective in children younger than 16 years of age with severe complications and a matching donor.

Home care
To help sickle cell symptoms, things like using heating pads for pain relief, folic acid supplements, and fruits, vegetables, and whole-wheat grains can help the body make more red blood cells.
Tips such as drinking more water to reduce the chances of sickle cell crises, regular exercise and reduction of stress to reduce crises are all desirable.
The long-term outlook for sickle cell disease varies. Some patients have frequent and painful sickle cell crises. Others only rarely have attacks.

Chromosomal Abnormality: Every Pregnant Woman Needs NIFTY Pre-natal Testing – Dr Ajayi

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Nigeria’s renown IVF specialist and the MD of Nordica Fertility Centre,Lagos, Dr Abayomi Ajayi in this interview with RALIAT AHMED- YUSUF sheds more light on NIFTY,a pre-natal testing that can detect chromosomal abnormalities in pregnancy and even some genetic  cancers.
What is NIFTY ?
NIFTY is a form of non invasive pre-natal testing.It is non invasive in the sense that you just need the woman’s blood to be able to detect the DNA of the baby.This was first done in 2010 in the University of Hong Kong and since then it has sort of transformed the way we do prenatal testing.It has not completely eliminated invasive prenatal testing but it has reduced its use to ten percent.

With NIFTY, Down Syndrome Can Be Eradicated in Nigeria

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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 opts 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 in the tenth week of pregnancy.

Read the full article here.