“Blueprint @birth, its analysis throws light on future ramifications unknown to human eyes.”
Blood and serum tests are the backbones of clinical diagnostics. These tests help diagnose diabetes, anemia, high cholesterol, thyroid, and infections to liver and kidney.
So, when the avenues of biochemical testing are far and wide, why genetic testing? Is it a hype or hope? Is it truly even a prenatal necessity?
What are Genetics and prenatal screening? Benefits
To begin with, your DNA is what codes for your natural biochemical makeup, and the environmental interaction triggers manifestations.
Post completion of the Human Genome Project (HGP), the genomic analysis came to be perceived as a great map. It is going to be useful to deduce almost every factor about human life, from looks to likes, from disease risks and outcomes to the developmental status of an unborn child. Thus preventive and wellness-based genetic screening tools, as well as tests which aid in fetal abnormality screening as well as cancer management, came into being. Today, the penetration of chromosome and DNA-based testing is to an extent wherein medical and diagnostic guidelines have included them as a pre-requisite in numerous pathological backdrops.
Prenatal screening is not a new concept but includes a series of diagnostic and screening tests which have been proven necessary for every pregnant woman during early prenatal visits. A better understanding of science gives us more significant avenues to deal with adversaries, and thus, the inclusion of chromosomal and genetic tests under this category. Incorporation of genetic testing in prenatal or carrier screening strategies ensures abnormality identification even before birth and also screening for possible transmission risk from couples planning for a family. Prenatal genetic testing can gift a couple of much time and choice to chart the future course of action. Also, it helps couples avoid difficult surprises.
Which Test Doctors Recommend?
Cytogenetic analysis by Karyotyping is still a popular tool to analyze structural and numerical chromosomal abnormalities. It highlights case behind many aspects like repeated miscarriage, a chromosomal disorder in the unborn fetus, cases of unambiguous genitalia, etc. Screening tests gain more popularity among the prenatal array because of their ability to be non-invasive. Thus it reduces the risks inherently associated with the invasive ones. Also, because of their potential to be of use even in the early pregnancy period; as early as ten weeks. Whether serum-based antenatal screening tests or the highly sensitive NIPT (non-invasive prenatal test) which studies cell-free DNA from the unborn child in the mother’s blood, these early-stage prenatal tests, screen risks for prevalent conditions like Down’s syndrome (trisomy 21), Edward’s syndrome (trisomy 18), neural tube defects, etc.
The doctors recommend Serum screening test or NIPT. However, the tests are suggested based on the health of pregnancy caregiver and the financial affordability of the couple. All of the risk screening tests under the prenatal category are part of a sequential screening process. We cannot rank one test higher than the others. Apart from the risk factors, genetic testing to asses the well-being is part of the routine. In the prenatal scenario, a recommendation from a physician is necessary.
Do not forget to consent, and get counseling!