GENETICS AND PRE-PREGNANCY TEST

 Do you want to know why genetic testing is necessary for your pregnancy planning?

So, the answer would be WHY NOT?????

Let us understand a few things at first,

Genetic testing can provide you with a more comprehensive view of your health and the health of your unborn foetus if you are pregnant or plan to become pregnant.
Whereas a baby is still in the womb, several tests can evaluate them for medical issues. Some people test their DNA for certain genetic illnesses. Genetic carrier screenings can assess the mother’s and father’s genes before conception to determine the likelihood that their unborn child will have a genetic condition.
NIPC (Non-Invasive Prenatal Screening): This is a method of determining the risk that the foetus will be born with certain genetic abnormalities. NIPC testing analyses small fragments of DNA that are circulating in a pregnant woman’s blood.
● NIPC primarily looks for Down syndrome, Edwards syndrome, Patau syndrome, Turner syndrome and extra or missing copies of the X chromosome and Y chromosome (the sex chromosomes).
● Parents should receive genetic counselling before testing, covering the purpose of the NIPS screening, limitations and the possible results.
● Current guideline state that if a mother gets a positive NIPS result, should be offered CVS or amniocentesis before making any decision regarding the pregnancy termination.


Now, you must have been thinking about what is CVS and amniocentesis!!!!!

Chorionic villus sampling (CVS) and Amniocentesis are prenatal diagnostic procedures that are performed to detect foetal abnormalities.

Chorionic villus sampling: CVS testing takes a small sample of cells from the placenta, the organ that forms during pregnancy. CVS testing happens earlier in the pregnancy than amniocentesis. A CVS is usually carried somewhere between 10 and 13 weeks. Certain genetic illnesses, such as chromosomal disorders, can be found with the help of CVS. These cell structures hold foetal DNA.

Conditions CVS tests for include:
● Cystic fibrosis.
● Sickle cell disease.
● Tay-Sachs disease.


Benefits:

You might face an increased risk of giving birth to a child who has a genetic condition or another issue. If so, you and your partner might want to find out as quickly as possible what is happening with the foetus. Having this knowledge can help you in choosing the best possible medical options. For instance, you can get ready for any specific care your kid could require right away after birth. You could also decide not to carry the pregnancy any further.


When You should get testing done:


● Already have a child with a known genetic condition.
● If you are 35 or older on your due date, as the risk of having a baby with a genetic problem increases with the mother’s age.
● Have a family history of a genetic condition, or your partner does.


Amniocentesis: It is performed after 15 weeks gestation. In addition, there is some difference in what they test for. Amniocentesis, for instance, can screen problems in the neural tube, which develops into your baby’s brain and spinal cord. CVS cannot detect these conditions.
Along with various enzymes, proteins, hormones, and other substances, the amniotic fluid contains cells shed by the foetus. These cells have genetic information that can be used to diagnose genetic disorders and open neural tube defects (ONTDs), such as spina bifida. Testing may also be done to check for inherited gene defects and metabolic disorders based on the family history.

for more information: https://nutrillion.in/genetics-and-pre-pregnancy-test/

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