After spending nine months in the safety of the womb, an aborning baby is sensitive and must adjust to its new environment. Recent advances in science and medicine have made it possible for physicians to keep an eye on a baby’s health even before the first organs begin to form. To guarantee excellent health and the early identification of any medical issues, it is crucial to have a screening performed as soon as the baby is born.
Genetics can affect a baby’s eye and hair colour, but it can also have an impact on the occurrence of specific birth abnormalities or genetic illnesses. To assess the likelihood that their unborn child may experience these possible issues, women are frequently provided with a range of newborn screening tests during the first and second trimesters of pregnancy. Let’s discuss the science behind newborn genetic screening tests and how they benefit your baby.
How Does Newborn Screening Work?
Performing a quick test on a baby to look for potentially fatal or damaging conditions that are not otherwise detectable at birth is known as a newborn screening test. The examination is carried out immediately after birth and occasionally before leaving the hospital. Blood screening and hearing screening tests are both parts of the straightforward procedure.
Screening tests can identify whether a newborn is more or less likely to have specific birth abnormalities or genetic illnesses, which may be inherited. The likelihood that the fetus will be born with a particular genetic disorder, such as Down syndrome, cystic fibrosis, Tay-Sachs disease, or sickle cell anemia, is calculated using screening results along with other risk factors, such as a woman’s age, the ethnic background of the couple, and their family history of genetic disorders.
What Illnesses Are Screened for in Newborns?
The infant screening test typically screens for a variety of conditions, such as the following:
Phenylketonuria (PKU): PKU is a metabolic condition that causes babies to lack an enzyme needed to metabolize phenylalanine, which is essential for children’s healthy growth. The PKU newborn screening can assist in identifying phenylalanine over- or underproduction and treating the issue.
Sickle cell disease: This condition damages red blood cells, leaving them brittle, fragile, and stiff. This disorder inhibits the circulation of red blood cells in the bloodstream, which can harm essential organs and put the newborn at risk for infections that could be fatal. The majority of the time, this condition is inherited genetically. This ailment can be found by the newborn screening test, and the doctors can treat the infant accordingly.
A lack of the MCAD enzyme can cause the baby’s blood sugar to drop too low. MCAD is an enzyme that helps the body break down fatty acids. Children with this deficiency should eat wholesome food regularly and shouldn’t skip meals, it is crucial to remember.
Tyrosinemia: This is a condition that can cause intellectual incapacity, liver issues, or even liver failure; to cure it, a particular diet may be necessary, perhaps even a liver transplant.
A complete list of newborn screening procedures
In the initial part of the tests, a newborn baby is inspected for medical conditions:
- Tests are available to diagnose hemoglobinopathies, which include illnesses like sickle cell disease and thalassemia, among others.
- Endocrine disorders: Checking for illnesses like hypothyroidism that lead to hormonal abnormalities.
- Examinations for conditions like food allergies affect how calories are processed.
- In situations of infectious diseases, testing for the existence of additional antibodies and infection-causing viruses.
Different types of newborn screening tests include;
- Blood test: This test is also known as a heel stick test since it involves pricking the baby’s heel to obtain a blood sample. The blood sample is drawn and put on a filter card that will produce blood spots, which are then sent for analysis.
- Two distinct sets of hearing tests are often administered to infants as part of the hearing screening process. The youngster is safe during these exams, which last five to ten minutes.
- Otoacoustic Emissions Test (OET): Using this test, medical professionals aim to ascertain whether the infant’s ears respond to sound in a normal manner.
- Auditory Brain Stem Response (ABR): This test measures how the brain reacts to sound and how the nerves that convey sound to the brain function. In this test, tiny earphones are inserted and sound is played while they are in the ear.
Conclusion
Within the first few hours of birth, newborn genetic screening is crucial for identifying significant problems in children. Making ensuring that parents who are dealing with a diagnosis for their infant have the assistance they require to comprehend, control, and accept their child’s condition is equally crucial. For new parents, receiving a good diagnosis for a newborn is a highly trying scenario, thus offering them the finest support network is crucial. Miracle Inside is one of the best solutions for newborn screening tests in west Yorkshire. Feel free to contact them to get their best service.