The nuchal translucency scan is recommended for all pregnant women, as it is the primary prenatal screening test in the 1stο trimester of pregnancy.
As maternal age increases, so does the likelihood of the baby being born with one of the most common chromosomal abnormalities, such as Trisomy 21 (Down syndrome). If the final calculated risk for a chromosomal abnormality is high, and after counseling the couple, more specialized tests may be performed, such as chorionic villus sampling or amniocentesis.
Among other things, the nuchal translucency scan can:
The nuchal translucency ultrasound is a painless examination and carries no risk for the pregnant woman or the baby. It is usually performed transabdominally, and in certain cases, a transvaginal approach may be required.
The nuchal translucency scan detects:
For the estimation of the risk of chromosomal abnormalities, four ultrasound markers are evaluated::
At a later stage (usually the next day), the final risk calculation is completed. This includes a combination of the ultrasound findings and biochemical markers — hormones present in the mother’s blood (PAPP–A, free b-hCG , which form the PlGF).
Before your scheduled appointment, think about any questions you may have regarding the ultrasound or your pregnancy and write them down so you can discuss them with your doctor or midwife during your visit.
A good breakfast, a light snack, and/or juice are ideally recommended before your appointment. At the same time, it is advised to drink enough water so that the bladder fills, allowing for better visualization of the uterus and cervix.
Upon your arrival at the clinic, you will be asked to complete the required medical history form, as well as provide any tests you have already undergone for evaluation of the results. For your own convenience, it is helpful to organize these tests in a folder by date and type of examination.
It is important to understand that this examination is a screening test and not a diagnostic method. Its sensitivity reaches 95%, with approximately 3% false-positive results. The screening assesses for Trisomy 21 (Down syndrome) as well as Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome).
The results of the ultrasound and biochemical tests will indicate a low risk for the above syndromes (i.e., a probability lower than 1:300) in most women.
In every case, you will receive full information regarding the significance of this risk and the various options for possible further testing, such as invasive testing (chorionic villus sampling — amniocentesis) or non-invasive testing (cell-free DNA test).