Ultrasound

Once your blood work comes back positive for Trisomy 18, your doctor will inform you and most likely refer you to a hi-risk doctor or they may have the ability to do a Level 2 ultrasound there at their office. Which ever the case may be, you will be having a Level 2 ultrasound is also called a targeted ultrasound. During this ultrasound, the technologist will be looking for particular things during this exam.

• Heart defects
• Omphalecele (intestine protruding outside of the babies abdomen)
• Oligohydramnios (low amniotic fluid)
• Polyhydramnios (to much amniotic fluid)
• Kidney abnormalities
• Clenched hands
• Rocker bottom feet
• Choroid plexus cyst (cyst with in the babies brain)

Even if several positive markers are found on your ultrasound, this is still not a diagnosis for Trisomy E. Again, other test need to be done to diagnose Edwards Syndrome.

Nuchal translucency screening (NT)

Nuchal translucency screening is an ultrasound test. It is used to screen for Trisomy 21,18, and 13, as well as congenital heart defects. This is a non-invasive procedure that is usually done between 11 and 14 weeks.

This test is for mothers who are 35 and older; who run a higher risk with having a baby with a genetic disorder, and also for mothers who have had a pregnancy previous with a genetic disorder.

An ultrasound will be performed and the nuchal fold will be measured at that time. Fetuses who have extra chromosomes usually have extra fluid around the fold of the neck, which is called the nuchal fold. This fold is measured and depending on the measurement, your physician is able to tell if it is extra fluid with in the nuchal fold.

There is no increased risk to having a NT screening, due to the fact that it is a non -invasive procedure.

This is a screening and not a diagnosis.  Other procedures are available to be done for a diagnosis.