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If you are pregnant, some tests can help you predict your baby's chances of developing certain genetic disorders.
Getting a prenatal genetic test is your choice. You may decide what test you want or not get any done. In this article, we'll discuss the different prenatal genetic tests performed in the first trimester.
The three tests we will discuss are:
The first trimester screening helps provide an early risk estimate of the following chromosomal abnormalities:
It is performed between 11 and 13 weeks of gestation. The first trimester screening includes a blood test and an ultrasound exam.
The blood test measures the levels of two pregnancy hormones- free β-human chorionic gonadotrophin (β- hCG) and pregnancy-associated plasma protein-A (PAPP-A)- in the pregnant woman's blood.
On the other hand, the ultrasound exam measures the baby’s fetal nuchal translucency (NT)- the amount of fluid in the back of the baby’s neck.
Results usually are ready within a week and show two pieces of information:
Non-invasive prenatal testing (NIPT), also called non-invasive prenatal screening (NIPS), is another type of genetic screening that measures your baby's risk for genetic abnormalities. It can be done as early as ten weeks.
NIPT is performed by drawing a simple blood sample and analyzing small DNA fragments (cell-free DNA/cf-DNA).
Compared to traditional first trimester screening, NIPT has a much higher detection rate and lower false-positive rate for the three most common genetic abnormalities. They are:
NIPT can also detect sex chromosome abnormalities like Turner syndrome (monosomy X), Triple X (XXX), and Klinefelter’s syndrome (XXY). It can also reveal your baby's sex with more than 99% accuracy.
Usually, results return after 2 weeks. A result that is “negative,” “low risk,” or “normal” shows that your baby is unlikely to have any of the chromosomal disorders tested. However, your baby is likely to have any of the genetic disorders tested if the result is “positive,” “high risk,” or “abnormal.”
The only tests that can diagnose genetic disorders are chorionic villus sampling (CVS) and amniocentesis. Hence, they are called diagnostic tests.
Diagnostic tests state whether or not your baby has a particular genetic disorder rather than measure the risk or chances.
The only diagnostic test that can be done during your first trimester is chorionic villus sampling (CVS). It is performed between 10 and 13 weeks of pregnancy.
During CVS, a doctor inserts a needle into the villi of the placenta to harvest some cells. These cells are used for testing in the laboratory. You do not have to be afraid for your baby. During the procedure, an ultrasound is used to prevent the needle from pricking your baby or other areas of your uterus. Results are often ready within a week.
The second diagnostic test, amniocentesis, is performed in the second trimester (between 16 and 18 weeks of pregnancy).
A visit to us at My Virtual Physician helps you get your prenatal care started while you await your appointment with your local OB doctor. Your virtual physician can help to electronically order prenatal care labs and/or send an order to the nearest radiology facility for you to get an ultrasound.
We are also available to help guide you through your pregnancy and answer any questions that may arise.
We are in network with many insurance health plans, including Medicaid, Medicare, United HealthCare, and Blue Cross.
