Pharma World

Understanding first trimester prenatal testing

contributed by Kathy Jordan 


Every mother looks forward to having a healthy, happy baby and an uncomplicated pregnancy. This journey begins with a trip to your healthcare provider for your first prenatal checkup. During the visit, your provider will talk with you about your health history and risk factors that could raise your chance of complications like genetic disorders or birth defects. He or she will offer you a series of tests—most of which are optional—but should be considered so that you and your doctor can understand more about the health of your baby.


What tests will my healthcare provider offer?

Physical exam: You may need a pelvic exam, Pap smear and breast exam if you haven’t seen your healthcare provider in a while, or if this is your first visit. He or she will check your blood pressure and weight as well.

Basic blood tests:  Your provider will check your blood type and Rh factor and screen for immunity to certain diseases that—if you contracted them while pregnant—could put your baby at risk for serious complications. Some of these include rubella (also called German measles), HIV, syphilis and other sexually transmitted infections, chicken pox (Varicella), and Hepatitis B.

Urine tests: You can expect to give a urine sample at every appointment. Early on your healthcare provider is checking for signs of a kidney infection or may need to confirm your pregnancy by looking for the hormone hCG that can be found in urine. As your pregnancy progresses, he or she will be looking for markers that might indicate the development of preeclampsia or gestational diabetes.

Genetic testing: Genetic testing is available for all pregnant women regardless of age or medical history. For some women, the risk of having a baby with a genetic condition is higher. Women at a higher risk include:


●  Maternal age is 35 or older at birth and having one baby

●  Maternal age is 33 or older at birth and having twins

●  There is a close relative with a genetic disorder

●  Maternal exposure to radiation, drugs, or high-risk infections like toxoplasmosis, cytomegalovirus or rubella

●  Maternal history of stillbirth(s)

●  Potential indications of a genetic disorder on ultrasound

●  Previous delivery of a child with a genetic disorder and more


Not every parent will choose genetic testing. Your healthcare provider will work with you, and give you information about all of your options.


If you do move forward with testing, you will be glad to know that non-invasive prenatal genetic tests are available.

What are the benefits of non-invasive genetic tests?

In the past, healthcare providers have offered blood work to look for specific conditions like Down syndrome (also called trisomy 13), trisomy 21, and others. These tests have been challenging—often producing a high false-positive rate. And while no test is guaranteed to be 100% accurate, scientists are combating this problem with new types of non-invasive genetic testing.  The tests analyze the cell-free DNA from the baby that circulates in the mother’s blood stream to identify chromosomal abnormalities. The MaterniT21® PLUS prenatal test is one type of targeted blood testing to help you gather information about your baby’s health.


The test uses just 2 small vials of blood and results can be ready just 5 days after blood reaches the laboratory. Women can have the test as early as week 10 of their pregnancy and use this information in conjunction with their healthcare provider’s advice to guide additional assessments and future healthcare decisions.


Prenatal testing is a personal decision. If you have questions, make sure to speak with your healthcare provider.


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