PREGNANCY
Screening
Nuchal translucency scan – detection of chromosomal and other fetal abnormalities
ULTRASOUND (US) SCREENING WITH THE MEASUREMENT OF NUCHAL TRANSLUCENCY (NT) and BIOCHEMICAL TEST (DOUBLE MARKER TEST or DMT) between the 11th and 14th week of pregnancy
This is one of the most important examinations in pregnancy and is recommended for all pregnant women. It is mostly performed through the abdominal wall, but occasionally through the vagina.
Depending on the size of the fetus, we determine the length of the pregnancy and the expected date of delivery. The number of fetuses is determined, and in the case of multiple pregnancies, whether or not each fetus has its own placenta. We assess early fetal development, viability and measure NT, which is the thickness of the fluid accumulated under the skin in the occipital or nuchal part of the fetus. The examination may also reveal important structural abnormalities of the fetus. The measured data is entered into a computer programme to calculate the risk of the three most common chromosomal abnormalities (Down syndrome or Trisomy 21, Edwards syndrome or Trisomy 18 and Patau syndrome or Trisomy 13).
Increased NT is measured in 5% increments and represents an increased risk of chromosomal and other fetal abnormalities. Since 20% of fetuses with Down syndrome and 80% of genetic syndromes do not have increased NT, DMT (free beta hCG and PAPP-A) is highly recommended in addition to the ultrasound scan, which increases the predictive value of the scan by 10% and, together with the ultrasound scan, allows 90% of chromosomal abnormalities to be detected. DMT can be performed between 8 weeks and 1 day up to 13 weeks and 6 days’ gestational length, with the maximum sensitivity at 10 weeks. Abnormal levels of the PAPP-A protein may also predict impaired fetal placental function.
- In addition to the private nuchal translucency examination and the double marker test, these examinations are carried out at the expense of the ZZZS with a referral from your gynaecologist.
between the 11th and 14th
week of pregnancy
80%
reliabilit
90%
with DMT more than 90% reliability
Additional examination
If the calculated risk of chromosomal abnormalities is increased, additional tests are recommended.
At very high risk, diagnostic invasive testing of the fetal chromosome is recommended: chorionic villus sampling (cvs), carried out between the 11th and 14th week of pregnancy, or amniocentesis (ac), carried out after 16 weeks of pregnancy.
For moderately increased or low risk, a noninvasive prenatal test (nipt) of cell-free dna from the pregnant womans peripheral blood (nifty/panorama) can be performed. The test can be performed from the 10th week of pregnancy onwards. 10 ml of blood is drawn. The result is known within 7 to 10 days. The test has a reliability of over 99% for detecting down, edwards and patau syndromes, with a false negative rate of 1 in 10,000 cases. In its extended form, the nipt test can detect sex chromosome defects and certain genetic syndromes. Information on the sex of the fetus is also very reliable.