Seychelles Hospital Newborns to be screened for genetic and metabolic illnesses By Laura Pillay |10 February 2021

As from next week, babies born at the Seychelles Hospital will be screened for certain genetic, hormone-related and metabolic illnesses, with the introduction of the Universal Screening Tool for Inborn Errors of Metabolism and Genetic Disorders.

The screening tool, introduced by the Health Care Agency (HCA) with the support of numerous partners and sponsors, is a tool used to indentify medical conditions that may not be apparent at birth, but may cause serious ailments in newborns unless treatment is initiated early.

To start off, six specific conditions will be screened for, namely, Phenylketonuria, Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, Cystic Fibrosis, Sickle Cell Disease and Galactosaemia, and the screening will later be extended to include other conditions.

As explained by consultant in charge of the paediatric department Javier Rose during a press conference yesterday morning, newborn screening is a vital process, and a requirement at birth in many countries around the globe.

In Seychelles, the programme will be rolled out on a consensual basis, although parents are advised to opt for screening for early detection and timely treatment of these disorders which can cause long-term physical and mental disabilities or death.

“Modern paediatric is focused mainly on prevention. Over recent decades, there has been a paradigm shift in paediatric; it has changed from a science which treats, to a science which principally is for prevention. A long time ago, a lot of children died from vaccine preventable diseases, and now with the vaccines that we are getting, these diseases have reduced significantly. In Seychelles, we have a very high vaccination rate, 98 percent and higher, and we want to continue with these prevention activities,” Dr Rose said.

“Over the last 10 years, the Ministry of Health has introduced new screening programmes to detect diseases and conditions in children at the earliest time possible, for medical intervention and to prevent possible complications. So, what was missing was screening for metabolic illnesses, genetic and hormonal illnesses that babies can be born with, but within the neo-natal (first month of life) period, babies can appear and act well, not presenting any symptoms and they are discharged to go home, and then develop symptoms of such diseases. When you detect the illness early, it is easier to manage by preparing a treatment plan, so in the end we can prevent the complications that could arise in the future,” Dr Rose explained.

How is the screening tool use?

The test is non-invasive and is performed by taking a few drops of blood from the baby’s heel 24 hours after birth, after the baby has been fed and there has been a protein build-up in the body, when toxic metabolites in the baby’s blood can be detected.

The blood sample is then placed on a filter paper which is sent to the laboratory for further analysis, using a Tandem Mass Spectrometer machine, special equipment used to analyse blood samples. Laboratory technologists who last year received training to run the tests and operate the spectrometre will then look for specific medical conditions, the results of which are expected to be communicated to parents of the newborn within a week to two weeks from sample collection.

If the event that a child tests positive for any of the conditions screened for, further confirmatory tests will be conducted, and follow-up and treatment plans drawn up if necessary.

What conditions and illnesses can be detected with the tool?

While Dr Rose acknowledged that many of the conditions and illnesses are not necessarily prevalent in Seychelles, he also recognised the importance of early detection.

“I can tell you from the outset that these illnesses are not common. They are rare enough individually, but if you consider them as a group, it constitutes an important group of conditions that cause physical problems, mental disabilities, celebral palsy and such. Do not consider the percentage but the impact of such illnesses. If you diagnose one, you treat them and, you have done something enormous for the child, their family and the country itself. For instance, thyroid is essential to development of brain and should be detected at the earliest possible, to avoid any damage to the brain or other damage to organs. Severe hypothyroidism leads to severe disability, and carries an economic impact. Socio-economic implications mean it is important to do the test,” Dr Rose said.

“Many of these illnesses are not curable, but can be controlled with medication, or through special diets. There are some that even though cannot be cured, you can manage the children so they can lead a normal life, with a normal life expectancy. You may not be able to treat the illness but you can control it,” Dr Rose affirmed.

The following are the six conditions being screened for;

1. Phenylketonuria (PKU) is an inborn error of metabolism, a rare genetic condition that causes an amino acid (the building blocks of protein) called phenylalanine to build up in the body, blood and brain of persons with PKU, and can potentially lead to brain damage and damage to the nervous system, which can lead to learning difficulties. Treatment includes a special diet and regular blood tests.

With early diagnosis and the correct treatment, most children with PKU are able to live healthy lives.

2. Congenital hypothyroidism occurs when a newborn infant is born without the ability to make normal amounts of thyroid hormone, which is important for brain development as well as growth. Symptoms are not usually obvious during the first few days after birth, although in more severe cases parents may notice the baby is feeding poorly, sleeping excessively, constipating and may have a weak cry and yellowish skin after birth. Untreated congenital hypothyroidism can lead to intellectual disabilities and growth failure.

With early diagnosis and treatment in the form of hormone pills (in some cases), babies can grow up to lead normal, healthy lives.

3. Cystic-fibrosis is a genetic and hereditary condition that causes sticky mucus to build up in the lungs and digestive system. This causes lung infections, problems with digesting food, internal blockages and repetitive pulmonary infections. Symptoms usually start in early childhood and vary from child to child.

There is no cure for cystic fibrosis, but a range of treatments can help control the symptoms, prevent or reduce complications, and make the condition easier to live with.

4. Congenital adrenal hyperplasia (CAH) is a collection of inherited conditions that affect the body’s adrenal glands, the cone-shaped organs that sit on top of the kidneys. In persons with CAH, the adrenal glands are very large and are unable to produce certain chemicals, including cortisol, a chemical that helps protect the body during stress or illness and helps the body regulate the amount of sugar in the blood. Left untreated, the adrenal glands produce too much of chemicals called androgen, which produce male sex traits. Early detection and treatment can help children with CAH to have normal and healthy development.

5. Galactosemia, which means “galactose in the blood,” refers to a group of inherited disorders that impair the body's ability to process and produce energy from a sugar called galactose. When babies with galactosemia ingest foods or liquids containing galactose such as breastmilk, baby formulas, dairy products and some fruits and vegetables, undigested sugars build up in the blood. The impaired ability to process galactose can be due to the deficiency of any of 3 enzymes, caused by mutations in different genes.

The most common treatment for galactosemia is a low-galactose diet. This means that milk and other foods that contain lactose or galactose can't be consumed. There is no cure for galactosemia or approved medication to replace the enzymes.

6. Sickle cell disease according to Dr Rose ison the rise in Seychelles and is an inherited condition of the blood. In a healthy person, red blood cells are a round, donut shape, but in persons affected by sickle cell some of the red blood cells are a crescent or sickle shape. These abnormally shaped cells do not live as long as normal red blood cells and tend to get stuck in blood vessels where they can block the flow of blood to certain parts of the body. If the condition is left untreated, it can cause a shortage of red blood cells (anemia), organ damage, or even death. However, if Hb SS is identified and treated early in life, individuals often can lead healthier lives.

To establish the programme and procure the necessary equipment, including the Tandem Mass Spectrometer machine, has amounted to around R2 million, all of which has been possible with the support and aid of sponsors, Constance Ephelia Hotel, H. Savy Insurance, the Children’s Special Fund, Friends of the North East Point Hospital and Hospice, Institute for Early Childhood Development and the Health Care Agency (HCA).

Aside from the newly-introduced screening tool, newborns are also screened through the Universal Hearing Test introduced to identify all hearing impairments, using Otoacoustic Emissions (OAE) tests, as well as screening for Critical Congenital Heart Disease (CCHD) in children.

On average, there are around 1600 live births in Seychelles per year.

The accompanying photos show some highlights of the screening process.

Photos by Joena Meme