Genetic Testing in Pregnancy

Pregnant? Your Genetic Testing Decisions Maximum  babies are born healthy but there is always a risk that something can go  wrong. The risk will be greater for various couples than others  depending on age and life issues and medical history.

One of the most mutual genetic testing pregnancy  problems that a baby can have is a genetic condition called Down  syndrome. While women are typically directed to have genetic testing,  the choice to do so is yours. It’s a good idea to think about why you  want to be tested and the significances for you and your family if you  learn that your baby does have an inherited disorder.

Before Pregnancy: Screening for genetic carriers

If you have a genetic factor for a disorder but don’t have the condition yourself, you’re called a carrier. Predictive gene testing tells you if you and your partner have these genes. So there are chances of passing them on to your children. Genetic testing in pregnancy is most important for the baby.


You can get the tests before or during pregnancy, but they’re most useful earlier.

First-trimester joint screening test

This  test syndicates the results of a blood test taken at about 10–12 weeks  and an ultrasound at 11–13 weeks. The test will display the risk or your  chance of having a baby with Down syndrome or Trisomy 18. It will not  tell you if your baby has Down syndrome.

If you are at increased  risk you will be accessible to a diagnostic test, either a CVS (Chronic  Villus Sampling) or amniocentesis.

Motherly serum screening

This  is a blood test collected between 15–20 weeks of pregnancy. The test  shows your risk of having a baby with Down syndrome, Trisomy 18 or  neural tube imperfections such as spina bifida. If the prenatal paternity test shows you are at increased risk you will be offered amniocentesis and ultrasound.

Non-invasive prenatal test (NIPT)

This  blood test is done after the 10th week of pregnancy. It screens for  Down syndrome and certain other chromosomal indiscretions in a baby. In  Australia, it is only available in some specialist centers.

Diagnostic tests

A  diagnostic test is testing the fetus’s inherited material and can  therefore tell whether the fetus actually has a genetic disorder. You  can take various genetic consulting programs.

Chorionic Villus Biopsy

In  this test a small sample is taken from the placenta. The sample from  the placenta can be tested for Down syndrome or in some cases other  genetic situations such as cystic fibrosis.

Amniocentesis

A  sample of the amniotic fluid that surrounds the baby is together and can  be used to diagnose Down syndrome or some other genetic conditions.
 

Ultrasound scans
This second-trimester scan is used to identify physical and structural irregularities with spina bifida, heart and limb faults.

 

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