Genetic Testing is the process of medical examination of DNA (Deoxyribonucleic Acid). DNA is the carrier of chemical or genetic information from parents to their children. Apart from carrying body traits from one generation to another, it also carries genetic diseases from ancestors to their offspring.
In the older days, medical science was not that advanced. It was not possible to test people or babies for genetic or rare diseases.
But, nowadays, with advanced medical sciences, this process has become easy. Doctors can test new-borns for genes carrying illness and do the needful. Thus, it is important for parents to know about this process and be extra precautions.
Genetic Testing and its medical applications
- Newborn screening – It is a genetic test for baby that detects genetic disorders in the early stage to treat them with immediate effect.
- Diagnostic Testing – It detects any underlying chromosomal condition based on physical symptoms.
- Carrier testing – This Testing identifies the human carrier of one copy of gene mutation. Carrier testing can be performed during pregnancy or later.
- Prenatal Testing – Prenatal checks detect any gene mutation or alteration in the foetus. This Testing can help parents realize all possible genetic disorders or congenital disabilities inherited by the baby.
- Preimplantation Testing – This Testing detects changes in embryos during ART and IVF. ART stands for Assisted Reproductive Technique, and IVF stands for in-vitro Fertilization.
- Predictive Testing (presymptomatic Testing) – This test detects gene mutation in later life. Families with running genetic disorders can take the help of this test.
- Forensic Testing – This is a form of genetic Testing in which DNA sequencing is used for legal detections. This helps in identifying criminals or rule out suspects.
New-born screening and its benefits
New-born screening is the most recommended genetic test for babies. Doctors recommend it for assurance that your baby does not have any serious health implications. These health implications include rare genetic, hormone-related, and metabolic disorders.
Thus, new-born screening helps doctors diagnose such issues and start treatment as soon as possible.
Tests that come under new-born screening
New-born screening has three parts:
1. Blood Test
Healthcare professionals perform this test to check babies for rare but genetic disorders. They prick new-borns’ one of the heels and collect the blood sample. That’s why this is also known as heel stick. The blood sample is then analysed in the laboratory. The new-born should be of 7 days at least to collect the blood sample.
2. Pulse Oximetry Test
This is a non-invasive process in which an infant’s oxygen level in blood is measured. The baby could have a low oxygen level in the blood due to heart conditions. The test uses a pulse oximeter with a harmless sensor. The oximeter can determine CCHD in infants too.
3. Hearing Test
A new-born baby could have partial or complete hearing impairments when born. Parents can take a doctor’s help to check for the issue with the help of the hearing test. It is a non-invasive, quick, and safe process. The test includes ABR Test (Auditory Brain Stem Response) and OAE Test (Otoacoustic Emissions Test).
ABR Test accesses the auditory brain stem and its response to sound. In this test, a miniature earphone plays sound inside the ear. If the brain responds against the sound, the infant does not have hearing issues. Otherwise, immediate treatment is a must.
In OAE Test, doctors check for the responses of ear parts against the sound. If they observe no echo reflection of sound in the ear canal, it implies hearing loss.
Issues that New-born Screening diagnoses
The test for metabolic disorders
Test for metabolic issues determines certain metabolic disorders that occur due to improper working of enzymes. The new-born screening includes disorders like MCADDeficiency, Methylmalonic Acidemia, Phenylketonuria (PKU), Tyrosinemia, Citrullinemia, etc
Test for hormonal issues
Hormones are glandular products that work as chemical messengers in the human body. Sometimes, glands secret either too much or fewer hormones, causing various hormonal issues. The screening includes tests for congenital hypothyroidism and congenital adrenal hyperplasia.
Test for haemoglobin issues
Haemoglobin is the red blood carrier that binds with oxygen to reach throughout the body. The low level of haemoglobin can be an alarming condition for the baby. The newborn screening for haemoglobin issues includes Sickle Cell Disease, HaemoglobinSC Disease, and Beta-Thalassemia.
Test for other issues
Many other health disorders come under new-born screening includes Galactosemia, Biotinidase Deficiency, Cystic Fibrosis, Spinal Muscle Atrophy (SMA), Severe Combined Immunodeficiency (SCID), and PompeDisease
Should parents choose newborn screening for their infants?
New-born screening is a preventive healthcare approach to keep your baby safe from medical complications in the latter part of life. As the test detects the problem before the occurrence, parents and the baby are saved from major hassle coming up in the future.
For more information about this genetic test for babies, contact good healthcare professionals.
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