David Jackson, MBA
Amniocentesis and noninvasive prenatal testing (NIPT), are the two most commonly used screening procedures to determine a baby’s genetic risk. Although these terms are frequently used together, they are actually two different tests.
What is NIPT?
NIPT, a simple blood test, is usually recommended in the first trimester. This test is safe and reliable and can be used to diagnose chromosome abnormalities such as Down syndrome, Edwards Syndrome, and Patau syndrome.
During NIPT your OB/GYN will take a sample from your blood. Your sample is sent to a laboratory for analysis. The placenta releases cell-free DNA into your bloodstream.
The NIPT screening test is used to screen for potential problems. It does not diagnose a particular condition but rather determines if your baby is at high or low risk for a chromosomal disorder.
What is Amniocentesis, you ask?
Your OB/GYN will use a long, thin needle during amniocentesis to remove a sample from your uterus. Your womb is covered in amniotic fluid, which contains some of the cells from your baby’s growing body. Your provider will send your sample to a laboratory for testing it for genetic disorders such as Down syndrome, cystic fibrisis, and spina bifida.
The amniocentesis test is a diagnostic one. It can tell you if your baby is at high risk for a chromosome disorder.
Who can benefit from NIPT and Amniocentesis
Any pregnant woman can benefit from amniocentesis or NIPT. These screening procedures will help you plan better for the future and give you peace of mind.
It is up to you whether or not you choose to undergo either test. If you are unsure, your general practitioner or OB/GYN may urge you to act.
- You are 35 and older
- A family or personal history of chromosome abnormalities
- A chromosome abnormality has affected your father or mother.
If your provider suspects that your baby is suffering from anemia or infection, they may recommend amniocentesis.
What can I do to interpret my test results?
The type of screening that you had will determine how you interpret the test results.
NIPT
The laboratory analyzes NIPT results to determine the percentage of cfDNA within each chromosome. If your test is within the normal range, your baby will receive a “negative” result. This means that your baby is less likely to develop certain chromosome abnormalities.
You might get a positive result if your test results are outside the normal range. This could indicate that your baby is more at risk for developing certain chromosomal abnormalities. NIPT isn’t always conclusive. To determine the risk of your baby, your OB/GYN can order additional diagnostic tests.
Amniocentesis
Your baby is unlikely to have chromosome abnormalities if the amniocentesis results are normal.
Your baby could be at high risk if your results are unusual. The results may not be 100%. To get more information, your OB/GYN can order additional tests.
Prenatal testing is based on your personal preferences, age and health history. Your OB/GYN can make recommendations based on your needs after an in-office consultation.
