Understanding Prenatal Diagnosis

When you are expecting a baby; whether that baby is your first or your sixth, there are many exciting things going on in your life. Your body is changing and growing in order to accommodate the new human that living inside you for the next few months, you need to organize the house to have room for the baby’s arrival, and you are excited for the new addition to your family. It is important to attend all of your doctor appointments during your pregnancy to ensure that the baby is properly developing and for any prenatal diagnosis to occur during that time. You will need to understand what is prenatal diagnosis along with how invasive it is, whether any possible abnormalities may be either from the baby or from the mother, and reasons you should utilize this form of testing during your pregnancy.

What it is

The first thing to understand about Prenatal Diagnosis is what it is. This type of testing is used to determine any chromosomal abnormalities that may be present in the fetus before they are even born. It is used to determine any birth defects or other conditions, which may be present in the baby, such as Down syndrome, spina bifida, and sickle cell anemia. These tests may also include determining the sex of the fetus. There are many tests to be performed such as ultrasonography and amniocentesis in order to assist in determining the abnormalities, which may be present in the developing baby.


Prenatal diagnosis can come both in invasive and noninvasive forms depending on the tests chosen. Some of the tests performed, which are considered invasive, include chorionic villus sampling and amniocentesis. There are other options available to check for abnormalities before using these two methods since they do hold a higher risk of miscarriage. Some of the non-invasive techniques, which can be used, include blood tests and ultrasonography.

Maternal vs. Fetal

Tests can check for things in both the mother and the developing baby. Typically, prenatal diagnosis is thought to determine the presence of abnormalities in the developing baby, but there may be factors in the pregnant mother than may adversely affect the developing baby. Examples include high blood pressure in the pregnant mother causing undue stress on the baby.

Reasons to Utilize It

There are three main reasons to choose prenatal diagnosis during pregnancy in order to help protect and understand the developing baby. These include allowing the parents to prepare in any way necessary for a baby that is born with a genetic abnormality, allowing for the option of aborting the baby with certain conditions, and allow the help of various treatments to help with the abnormality either before birth or immediately after birth.

If you would like to know more about prenatal diagnosis, contact Ariosa Diagnostics. They are available to answer your questions at 1-855-9-ARIOSA.

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