Monday, June 17, 2024

Newborn Screening

This is an INFORMATION page, verified by physician

Most babies are born healthy. But some infants have serious medical conditions even though they look and act like other newborns. These babies generally come from families with no previous history of a condition. Newborn screening allows conditions, to be identified and treated before babies become sick. Most babies who tested, identified and treated with conditions at birth grow up healthy.

It is important to understand that screening tests cannot confirm or rule out a particular condition. Screening is not a diagnostic test. It only identifies who may have the condition, so that follow-up testing can be offered to confirm.

Newborn screening program started in the 1960s. It was a way to detect metabolic disorders using dried-blood spots. Over the years it has expanded. Currently the following screening tests are offered to babies born in Cayman:

  • Newborn Blood Spot Test,
  • Screening for Congenital Hearing Loss and
  • Screening for Critical Congenital Heart Defects (CCHD).

Newborn screening is offered along with Vitamin K and Hepatitis B vaccine

Newborn Blood Spot Test (known as NeoGen)

In Cayman newborn blood spot test (known as NeoGen) tests for 55 rare inherited disorders. Including metabolic, hormonal and blood problems. All these conditions remain undetected until symptoms develop. If left untreated, can cause lifelong complications. This can include intellectual and physical disability. Or at some instances may be fatal. Early detection is the only solution.

Newborns who are screened and diagnosed at birth will receive treatment before symptoms develop. A majority will live normal lives.

The test involves few drops of blood onto a filter paper. It will be done by your midwife or your baby’s Paediatrician when your baby is at least 24 hours of age. Certainly, before you leave the hospital.

You may be worried that the heel prick can cause pain and discomfort to your baby. But it is very mild, and you can use distraction strategies, like nursing during the procedure, to make the experience easier for baby.

The result takes about a week and you may not hear anything if the tests are normal. Your baby’s Paediatrician will contact you if a test is positive for a condition. A positive newborn screening test does not mean that your baby definitely has the condition.

Your Paediatrician will arrange for more tests to confirm or rule out the diagnosis. If a diagnosis is confirmed your baby will be referred to a specialist. Most likely overseas, for more testing and treatment.

When treatment is needed, it is vital to be commenced as soon as possible. Treatment may include special formula, diet restrictions, medicine, and close monitoring.

Screening for Congenital Hearing Loss (known as hearing test)

Hearing is an extraordinarily complex process. It involves synchronizing the individual components of the ear and specific parts of the brain. So the child is able to hear and process the sounds of their environment.

1 to 3 of every 1,000 babies are born with some degree of hearing loss.Hearing loss can affect child’s ability to develop.

Especially with speech, language and social skills. But, with early identification and intervention, children with hearing loss are less likely to experience these challenges.

Newborn Hearing screening is developed to identify permanent hearing loss as early as possible.

If your baby is born at GTH they will have the test done before discharge. At CTMH DH, you will be advised to contact Cayman Hearing Center and arrange an appointment in the first 28 days of life.

The test lasts between 5 to 15 min, provides a ‘pass’ and ‘fail’ report and cause no pain or discomfort.

The test is called automated otoacoustic emission (AOAE) test. It measures the hearing thresholds in decibels (dB) in various frequencies. A small soft-tipped era piece is placed in your baby’s ear and gentle clicking sounds are played. Best results are achieved if your baby is asleep and the test is performed in a soundproof room.

You will be given your baby hearing test result as soon as the test is done. If your baby has clear responses in both ears, they are unlikely to have permanent hearing loss. In case that no clear responses are elicited, your baby will be offered a repeat test. Or another type of test called automated auditory brainstem responses (AABR). This test involves placing of 3 small sensors on your baby’s head and neck, as well as soft earpieces in your baby’s ears. Babies that are admitted to NICU all have AABR as a standard screening test.

Even if your baby fails the second test, it still does not mean that they have permanent hearing loss. Your Paediatrician will organize a specialist opinion with hearing specialist.

It is important to know that newborn hearing test does not pick up all type of permanent hearing loss. Hearing loss can develop later on. It is vital to contact your Paediatrician if you have any concerns about your baby hearing. Or the timing of their developmental milestones.

Screening for Critical Congenital Heart Defects (CCHD)

1 in 100 newborn babies has congenital heart defect. And 1 in 4 of those has critical congenital heart defect (CCHD). Critical congenital heart disease (CCHD) represents a group of heart defects that cause serious, life-threatening symptoms. They and need intervention within the first days or first year of life. Some babies affected with CCHD can look and act healthy at first. But within hours or days after birth they can have serious complications.

Critical CHD it is not always detected on antenatal checks. To improve early detection, critical CHD screening has been added to the uniform newborn screening panel.

It is a relatively new screening. In Cayman it is offered by some, but not all Paediatricians and midwives. Our 3 Paediatricians (Dr Sara Watkin, Dr Jasmina Marinova and Dr Sarah Newton) offer this to every newborn baby under their care.

CCDH screening involves a simple bedside test called pulse oximetry. The test estimates the amount of oxygen in your baby’s blood and low levels can be a sign of critical CHD. The test is done by using a machine called pulse oximeter. Sensors are placed on your baby’s right hand and either foot. The test is painless and takes only few minutes.

Your baby will have the critical CDH screening when they are at least 24 hours of age. For babies born in Cayman means that they will be still in hospital. It will be performed and interpreted by your baby’s Paediatrician.

As all screening tests pulse oximetry test is not perfect and is most likely to detect 7 of the critical CHD.

Depending on the Oxygen levels a pass or fail result will be given. A pass means that one of these conditions is less likely. A failed screening will prompt further investigations of baby’s heart. Including heart scan (electrocardiogram) which will be done with paediatric cardiologist. This testing will take place either at GTH or Health City to diagnose or exclude underlying critical CHD.

More Advice on Newborn Screening

It’s also worth checking out help, advice, and any newborn screening posts in our Baby Facebook Group. It allows you to ask questions, gain access to basic advice and share experiences with others facing the same new experiences. You can join here:

about the author

Dr Jasmina Marinova
Dr Jasmina Marinova
SPECIALIST PAEDIATRICIAN & NEONATOLOGIST - Dr Jasmina Marinova (MMRCPCH, MD) is an experienced pediatrician in Cayman with a special interest in neonatal medicine, having been trained in both pediatrics and neonatal medicine in Europe before spending 15 years in the United Kingdom, both at the world-renowned John Radcliffe Hospital in Oxford and in the busy district hospital in Kettering.

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