All new parents want their baby to be healthy, but some birth abnormalities are only detected later in life.
This is why testing a targeted group to separate healthy individuals from those with undiagnosed conditions is vital.
Healthcare screening also separates those at high risk of diseases.
Over 40 decades ago, many countries started newborn screening programmes to identify babies with rare genetic disorders as early diagnosis helps prevent disability or deaths.
Unfortunately, just about one third of infants worldwide receive screening at birth, resulting in a rise of diseases among the unscreened population.
In Malawi, the programmes remain unavailable and most rural children are diagnosed too late
Yet the process is simple. A few days after birth, a health worker collects a small blood sample from the baby’s heel for a series of tests by trained medical laboratory scientists.
Newborn screening began in 1934 with phenylketonuria (PKU), a disorder inherited from a child’s parents which can lead to intellectual disability, seizures, and mental condition in children if not treated.
Dr Robert Guthrie, an American physician, developed a simple blood test in 1962.
German doctor Horst Bickel perfected the process when a two-year-old girl had mental disorders was unable to stand or talk and spent her time groaning, crying, and banging her head. Her mother pressed the doctor to find some treatment.
After near-removal of the amino acid from her diet, the girl gradually improved and started to crawl, stand and climb.
From that time, babies and children diagnosed with PKU needed a low-protein vegetarian diet.
Treatment of affected babies started at birth and was successful in siblings of known cases, but the general population still required early diagnosis.
Since the introduction of PKU testing, developed countries have added dedicated laboratory tests for additional disorders, including sickle cell disease, to newborn screening programmes.About 240 000 babies in southern Africa are born with sickle cell yearly.
Malawi has a substantial sickle cell burden, but resources for diagnosis and treatment remain scarce. Neither newborn screening nor standardised methods for diagnosing the disease currently exist.
In recent years, all suspected sickle cell patients in Malawi have been diagnosed using clinical criteria alone.
To address the diagnostics and care gap, in 2015 haemoglobin electrophoresis—a blood test that measures different types of a protein called haemoglobin in your red blood cells—was implemented, but community awareness is low.
Malawi should consider introducing newborn screening programme as a health priority.
The Ministry of Health should consult relevant professional organisations, including the Society of Medical Doctors and Malawi Association of Medical Laboratory Scientists as well as parent and patient groups, industry and health technology assessment experts.
Before newborn screening programmes can start, all healthcare professionals involved—including obstetricians, laboratory scientists, paediatricians, clinicians and nurses—require adequate training.
Soon after birth, healthcare providers will draw blood after obtaining informed consent from the parents and medical laboratory scientists will perform the tests and report the findings to a clinician, often paediatrician, who will in turn inform parents.
The role of professional organisations, like the lab scientists’ association, is to encourage future leaders in the medical profession to undertake the training required to support the programme.
Initially, health workers can go abroad to gain the necessary postgraduate management qualifications with government scholarships. Once the programme is established, the training can become part of postgraduate training locally.
A successful newborn screening programme depends on the availability of quality laboratory tests; reliable and secure flow of patient information among healthcare workers and policymakers.
Now is the right time to consider introducing this cost-effective lifesaver.
