Prenatal Genetic Counseling: is Genetic Testing Right for you?

Prenatal Genetic Counseling: is Genetic Testing Right for you? Most pregnancies are unplanned and come as a surprise to the parents. However, some couples elect to pursue prenatal genetic counseling in order to prepare for any potential health concerns that may arise during pregnancy.

When you are pregnant, one of the decisions you need to make is whether or not to have prenatal genetic counseling. This is a process where you can discuss with a professional what tests and screenings are available to you and your family. It can also be a time to talk about any concerns or questions you may have about your pregnancy or the health of your baby. Here are some things you need to know about parental genetic counseling.

Types of Prenatal Testing

To many expectant mothers, pregnancy is a period of great anxiety and anticipation. It’s normal to worry about your baby’s health. At birth, most babies are healthy; however, it’s important that you understand all your options.

There are two main types of prenatal testing, namely:

  • Screening test
  • Diagnostic test

Screening Test

A screening test is a general overview of the health and well-being of your baby. It usually consists of an ultrasound, blood sample, and maternal serum alpha-fetoprotein (MSAFP).

Here are the main screening tests available to pregnant women:

  • Ultrasound: Pregnant mothers can benefit from early detection thanks to ultrasound technology. An ultrasound can be used to detect if the baby has any birth defects, such as heart disease or brain injury.
  • Maternal Serum Alpha-fetoprotein (MSAFP) test: This is a blood test that collects information about whether your baby might have neural tube defects, which may include spina bifida.
  • Blood test: A blood sample will be collected to determine whether you and your baby are at risk for genetic disorders. The test can detect diseases such as cystic fibrosis, thalassemia, Tay-Sachs disease, and sickle-cell anemia.

Diagnostic Tests

Diagnostic tests, on the other hand, are meant to determine whether or not your baby has certain diseases and disorders that may be passed down through genes. The diagnostic tests you will need to know about are amniocentesis and chorionic villus sampling (CVS).

Amniocentesis: This is when your doctor withdraws some of the amniotic fluid surrounding your baby in the womb. It can check for genetic problems in your baby, such as Down syndrome, spina bifida, sickle cell disease, Tay-Sachs disease , or cystic fibrosis. Amniocentesis also detects lung maturity and whether your baby is a boy or girl!

Chorionic Villus Sampling (CVS): This test involves removing some tissue from around the sac that contains the developing fetus. Your doctor uses an ultrasound to guide a long, thin needle into your uterus to collect the placenta tissue. While CVS is mostly used to test for genetic disorders, it can also confirm whether your baby is a boy or girl.

Pregnancy Complications

Some prenatal tests are available to detect common pregnancy complications such as Down syndrome, spina bifida, chromosome problems, cystic fibrosis, sickle cell disease, Tay-Sachs disease, and open neural tube defects.

Couples must first understand that not all prenatal testing has 100% accuracy rates. If you’ve had a screening test result in an “abnormal” finding, you should consult with a genetics professional at once to discuss what other diagnostic procedures may be required.

Questions to Consider

It is optional to take prenatal screening tests for abnormalities. However, if you’re screening for untreatable fetal conditions, ensure to make an informed decision.

Here are the questions you need to consider before going forward:

What’s the accuracy of the test results?

Well, while it’s hard for prenatal test results to be completely accurate, the accuracy rate for some tests is over 90%. For example, an ultrasound can detect if your baby has spina bifida with an accuracy of over 95%.

What are the risks involved in getting prenatal testing?

Prenatal diagnostic tests have their own set of risks. These risks vary depending on which developmental stage you’re in when the test takes place. For instance, amniocentesis carries a small risk that might cause cramping or leakage of amniotic fluid. Some women may experience lightheadedness or faintness after undergoing this procedure; however, there are no long-term effects.

What type of follow-up care will I need?

The next step after prenatal genetic testing to monitor the development of your baby. There are two types of follow-up care after prenatal testing:

Watchful waiting involves monitoring your baby’s development during the pregnancy to check if the suspected findings are harmless or will become worse over time. Your doctor may recommend early delivery (cesarean section) for babies with severe problems, like open neural tube defects and fetal heart defects.

Medical Intervention is necessary when a prenatal test result shows that a baby has a disorder that can’t be treated in utero. In this case, doctors recommend treatments based on evidence from studies done with similar disorders or from expert opinions from specialists in those specific areas of medicine.

In most cases, you will likely have to choose either one of these options for each prenatal screening depending on what your doctor recommends.

What is the risk of disability or death to my baby if I don’t get prenatal testing?

Since severe disabilities and some genetic diseases can be life-threatening, it’s good to know if your baby is at risk before he/she is born. However, this knowledge may not always provide you with an answer that allows you to plan for life or death. If the prenatal test shows that your baby is healthy, you certainly don’t have to worry about a life-threatening illness. In this case, doctors recommend treating any minor disabilities or medical conditions as they arise after birth.

Which prenatal testing method – screening or diagnostic – will I use?

It depends on what specialist you’re seeing. Some prenatal tests are screening tests that provide information about whether or not your baby is at risk for certain disorders, while others are diagnostic tests that definitively diagnose a genetic disorder.


Prenatal testing should be a decision you make with your partner alongside your doctor. There are several prenatal testing methods to choose from, but remember that not all are 100% accurate. Make an informed choice based on the accuracy of prenatal test results, risks involved in testing procedures, and follow-up care.



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