Importance of Genetic counseling and Non-Invasive Prenatal Screening

Posted by Genes2Me on January 9th, 2021

Non-Invasive Prenatal Screening:

Non Invasive Prenatal testing or, in other words, Non-invasive prenatal screening is a potential genetic screening tool that evaluates the presence of fetal DNA in maternal serum for chromosomal abnormalities and genetic disorders. This specific genetic testing methodology uses the latest and innovative Next Generation Sequencing technology to analyze and generate meaningful reports. This is followed by a genetic counseling session in which a trained and certified genetic counselor helps the patient understand results and guides the pregnancy. This session is extremely helpful for the pregnant lady as it gives her confidence to face any difficulty, if any, in the developing fetus. The counselor does counseling and helps the pregnant lady in her pregnancy with mental and emotional stability.

Why opting for NIPT?

Genetic screening during pregnancy is an indispensable requirement for women above the age of 30. During pregnancy, the child may have a specific kind of genetic or chromosomal disorder; if not detected at an early stage may result in developmental delay, or it may also hamper the intellectual ability of the child. Non-invasive prenatal screening is a harmless protocol and poses no risk to the developing baby and the mother. This test exclusively screens for three prominent chromosomal trisomy's; Trisomy 21 (Down's syndrome), Trisomy 18 (Edward Syndrome), and Trisomy 13 (Patau's Syndrome). However, suppose the pregnant couple is opting for a complete NIPT test. In that case, other than these three trisomy's, other aneuploidies that have a chance to develop in the developing foetus are also screened in the process. The results are made available to the patient in a span of 7-10 days. This can help the couple in making informed decisions regarding the genetic health of the child. It gives doctors also a sufficient amount of time to diagnose the genetic disorder through other confirmatory procedures and initiate the treatment protocol at the earliest.

Genetic Counselling and NIPT:

Genetic counseling is a key aspect associated with Non-invasive prenatal screening. Pre genetic counseling helps the couple understand the advantages and disadvantages of Non-invasive prenatal screening techniques with the testing procedure. The genetic counselors listen to the couple and pregnant lady's queries and try to answer and resolve all their queries. After developing confidence in the testing procedure, the particular may or may not opt for NIPS. If the couple opts for NIPS, the counselor helps the lady collect the sample and helps in understanding the best week in which the sample can be collected. After collecting the sample, the counsellor remains in the touch with the pregnant lady until the authorized lab services generate the reports. After the generation of reports, the genetic counseling session is conducted again to help the patient understand the results and let her know the developing foetus has either some genetic abnormality or is devoid of any significant genetic abnormalities. If some suspected condition is detected in NIPT, the counselor suggests confirmatory procedures along with proper guidance. Then, a particular couple can discuss their results with their doctor and initiate the process of treatment as early as possible.

Genetic counseling and NIPT go hand in hand, and it is really important to understand the role of genetic counseling in non-invasive prenatal screening.