01/03/2024
I remember when I first started caring for women, genetic testing seemed rather taboo. Because there were risks to the offered tests (namely miscarriage with cvs and amniocentesis), and the clients I served linked genetic testing with abortion. However, I find genetic testing can be extremely valuable for us who value every life in being able to prepare and obtain the best care for our little ones that may need additional assistance at life.
What kind of testing is available?
• Carrier screening — tests mom’s and dad’s genes to see if they are carriers. It does not prove if the baby will have the condition, but can assess the chances of it being passed to baby. This does not assess risk of baby having an abnormal amount of chromosomes, or neural tube defects.
• Blood markers such as the Quad screen — assesses different markers that can help assess baby’s chance for having for Down’s Syndrome, Edward’s Syndrome, and neural tube defects. It only assesses the likelihood of baby having a condition, and is not diagnostic.
• Nuchal translucency screening — measures the thickness of the baby’s neck via ultrasound. A thicker neck may indicate a baby with an abnormal amount of chromosomes, but it is not diagnostic. It is often used alongside a quad screen.
• Chorionic Villus Sampling — tests baby’s cells from placental tissue called chorionic villi by inserting a needle to collect samples. It is diagnostic, but comes with a risk of miscarriage. It can detect trisomy 13, 18, and 21, and other inherited disorders but not neural tube defects.
• Amniocentisis — tests baby’s DNA from the amniotic fluid by inserting a needle to collect samples. It is diagnostic, but comes with a risk of miscarriage. It can detect trisomy 13, 18, and 21, and other inherited disorders and some neural tube defects.
• Cell-free DNA Testing — Highly accurate testing of fetal DNA found in the maternal blood. Not diagnostic, but also does not carry risks of other tests. Screens for many types of abnormal chromosomes amounts but does not screen for neural tube defects.