Pregnant? Your Genetic Testing Decisions

Pregnant? Your Genetic Testing Decisions

Pregnant? Your Genetic Testing Decisions Maximum babies are born healthy but there is always a risk of 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. 

Pregnant? Your Genetic Testing Decisions

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.  


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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