Is there a non invasive diagnostic examination for chromosomal abnormalities?

In the last few months some countries have introduced a maternal blood test (NIPT), which is able to identify up to 99% of trisomy 21 (Down). This test, which has a higher detection rate than the nuchal screening, is highly reliable and will undoubtedly spread very quickly. Currently it is only available in few foreign centers.

 

However even if the test is positive, it will still be necessary to do an amnio/cvs to confirm the diagnosis.

This examination, same as the nuchal translucency, will change the study of chromosomal abnormalities. But it will not substitute the value of an early fetal study through ultrasound examination and therefore unable to detect potential fetal malformations (early morphology scan)

 

How much does nuchal translucency screening cost?

In most hospitals, nuchal translucency screening can be performed under the National Health Service (SSN) and depending on the region; the cost can be between 80 and 100 euro.  

Privately the cost can vary considerably between 150 to 280 euro. This amount includes the blood test, which costs between 50 and 70 euro.

Moreover, if only one parameter is used (nuchal translucency) as opposed to multiple parameters (nasal bone, ductus venosus, tricuspid flow) there is a difference in the test’s detection rate.

Nuchal translucency screening does not include a detailed fetal morphology scan.

A fetus’s morphology evaluation at the time of nuchal screening can be lengthy and requires experience and specific advanced equipments.

You can read more in the relevant pages on the advantage and disadvantage of this argument.

 
I searched in the list of doctors and the one I have chosen is not listed.
The choice of becoming certified by an international accreditation centre is voluntary and free of charge for the interested practitioner. Therefore the fact that your doctor is not listed does not mean that he is not able to perform the examination, but that he has chosen not to be accredited by the centre. Moreover the doctor’s registration may have been valid until recently. Certifications are available for only a year after the doctor has been through the quality control audit, and may be temporarily unavailable while the practitioner goes through the yearly certification process. (This is similar to an air pilot who has to renew his license on a yearly basis).


Why the location or clinic where the doctor is based not available with the list?
The international centre that certifies and conducts quality control works with thousands of practitioners worldwide and does not follow the location where the accredited doctors are based, as this is subject to continuous change.


Is a Hospital Centre accredited?

No. As the quality control can be performed only on individuals and not a group, only individual practitioners can be accredited.

 

How long does the examination last?

The nuchal translucency examination, especially if combined with morphology scan cannot be conducted in less than 30 minutes. The appointment includes pre and post examination consultations, which will vary depending on the patients individual circumstances. The whole process can often take up to one hour.

 

Is blood test required when the patient is carrying twins or had assisted fertility treatment?

Yes. Please see the section on twins  on this website.

For pregnancies with assisted fertility treatment (Fivet,Icsi) nuchal translucency with blood test is highly recommended. However this should be conducted by a capable practitioner.

 

I have been informed that the blood test can give false results and that it’s better to do NT alone

The blood test increases the sensitivity of the screening not only for chromosomal risks, but also for other problems related to the pregnancy (pre-eclampsia and pre-term delivery).

However it is important that the practitioner ensures that all measures have been made to ensure the test is of high quality (conservation, transportation, choice of laboratory, regular checkup of consistency of results).

 

Is my report enough or do I need to take the pictures as well?

The medical report must include a picture of the fetal length (CRL) and of the measurement of the nuchal translucency and all other parameters used.

The report should also be prepared in a manner that would allow another specialist to understand it, should the patient wish to have a second opinion.

 

How much is a villocentesis?

Currently it is offered free of charge by the SSN to all women above 35 years of age.

When the new regulations suggested by the Istituto Superiore di Sanità are implemented, it will be offered only to women with high risk based on nuchal translucency screening.

If the test is done privately, generally the cost is between 1000 – 1300 euro.

 

Is nuchal translucency an internal or external scan?

In most cases it is better to do it internally and in fact this is the method that is presently widely used.


Last Edit: 05/08/2013 9:12pm
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