Over the last years, new technology has developed better methods of detection for fetal abnormalities, especially for diagnosis Down syndrome.
Down syndrome, it is a chromosomal malformation in infants and according to research, usually from 700 pregnancies, one infant can have this syndrome, with the highest incidence increasing with the mother’s age.
A new method of diagnosing Down syndrome, less dangerous than old ways of detection is nuchal translucency screening, which is an ultrasounds marker for prenatal diagnosis that measures the translucent space of fetal neck region (anatomic region between the skin and cervical spine).
Prenatal screening ultrasounds, which can evaluate the nuchal translucency, are more often used in the majority of university centers, where there are devices and specialized medical staff. Any pregnant woman, who wants to perform the test, should inquire about the best place that can do this especially since the investigation is harmless and does not cause any danger to the fetus or mother.
Nuchal translucency screening, it is performed at a fetal age, between 11-13 weeks and 6 days of pregnancy (optimum during the week 12), but never after week 14, because this test becomes irrelevant after this age. The results of nuchal translucency ultrasounds screening, are actually a statistical expression that correlates many factors such as:
- Fetal age
- Woman age
- Ultrasound values of nuchal region (nuchal translucency).
Prognosis of age-related is quite disturbing, so every woman over 35 who wants a child should consider this. According to research, the risk of a pregnant woman the age of 35, to have a child with Down syndrome still remains from 1 to 270, even if the values of nuchal translucency are normal. In the eventuality that the test it is irrelevant for a 35 years old pregnant woman, the risk of having a child with a chromosomal abnormality significantly increases.
This test has a precision of about 80% in diagnosing of Down syndrome, which means that if a pregnant woman submits to the test, there is a possibility of 80 % to identify the disease an 20 % do not identify ( false-negative). So there is a 20% chance that Down syndrome is not diagnosed by this method and this woman might give birth to a child with this condition.
Even though Down syndrome is permanent, most patients can have a normal life. With a proper care and assistance they need, children with Down syndrome can have spectacular growth and development and can grow up healthy and happy.




