The vast majority (95%) of the tests will be “low risk”. It means that your baby has low chances to have a chromosomal abnormality. (In practice a low risk test means a small NT and biochemistry within normal range).
The test may be positive if the result is of a risk superior to 1:300:
A positive test occurs in 5% of cases. A test may be positive because of a big NT or abnormal biochemical results.
A positive test doesn’t necessary mean that the baby has for sure a chromosomal problem but that further testing if the patient/couple wishes may be indicated.
- Diagnostic tests are CVS or amniocentesis.
- A reassessment of the risk may be carried out when the result is between 1/100 and 1/1000.
This is a II level assessment and may be carried out by an expert operator that assesses other fetal parameters like the nasal bone, the fetal profile, the heart and the ductus venosus.
There is a list of
accredited Operators for this II level scan assessment.
The APTA Programme. (
Aid
Pluridisciplinary
Translucency
Augmented)
This programme offers further assessment/follow up to the patient/operators in cases of increased NT associated with a normal cariotype. In this case there could be an increased risk of congenital heart disease or other anomalies.
Advice and counselling is offered by multidisciplinary team of experts id fetal medicine, fetal cardiology and genetics. (
read more).