Fetal Nuchal Translucency, Down’s Syndrome, Chorionic Villus Sampling (CVS), Amniocentesis

Been going through a terrible time of late after we got a “upper end of normal” result at our 11w2d scan.  The result for both fetuses was 2.5 mm.  After discussing the risk factors and stats we decided we didn’t want to pursue further testing as we felt that there was no need to pursue invasive testing (CVS) if we didn’t intend to terminate under any circumstance.  I then went for another scan 12w5d at another gynie, the result of which is currently unclear (more on that later), but which seemed to my untrained eye to be 4.5. It also seemed as if the nucal was visible from the top view of the baby, which caused great alarm on my part.  He only mentioned that one seems to be normal and the other not. After scanning I asked the result from the Dr. who responded that he will forward a report via fax to the sonographer that will perform further testing (fetal assessment center), at which point I realised I will not get along with the Dr. I was emotionally drained and didn’t have the energy to have the “I am entitled to my results” talk, and very politely said my goodbeys and paid my bill.  Very few things in this world infuriates me more than a medical practitioner without emotional intelligence who believes that patients are incapable of mastering medical information.  Apparently you need a medical degree to understand a bell curve *shrug*.

Anyhow, I left his consulting rooms confused, rattled and anxious and immediately followed up by arranging a fetal assessment at Kingsbury Fetal Assessment Center in Cape Town – Tel: 021 683 4653 (which was going to happen just the NEXT day).  After much discussion and tears we decided we could not buy our own peace of mind at the risk of our babies (should a CVS be performed) and I proceeded to cancel the appointment that was so kindly arranged by Elizabeth at Kingsbury at such short notice.  They were extremely kind in their response and I was choking as I said goodbey on the phone, trying to gulp down my tears.  The pressure of HAVING to do the assessment (because the expert assessor Shannon Morris was going on leave) on such short notice just broke me and I had to go with my gut feel and cancel.  The screening would have involved last minute travel arrangements to Cape Town and a lot of stress after an already long day of emotional upset and just did not feel right.

In the fuss of arrangements (trying to get my blood group from Vitalab) for the Kingsbury scan I spoke to one of the nurses at VL and she asked if I was aware of Prof. Nicolaou Tel:011 883 3070 at Morningside Medi Clinic and that they performed a bunch of non-invasive tests, I wasn’t and decided to investigate.

The nurse (Sharon) at Prof. Nicolaou’s rooms was extremely helpful and talked me through all my options and was equally infuriated at the Dr. who refused me my results. I requested that his report be sent through to Prof. Nicolaou’s rooms.  Interestingly Sharon said that most of the time amnio is better with twins as the positioning can be problematic with CVS, she also mentioned that they now have software and updated stats that improves the efficacy of blood results on twin pregnancies. I sighed a sigh of relief to finally hear a person speaking a language I could understand.

I now have a 17w appointment where they will perform all the available tests and allow us to decide based on the results of those tests if we wish to proceed with an amnio.

So, we now wait for 17 Nov when we’ll know more about the status of the twins.

I think the message that needs to be put across very clearly is that Fetal Assessment does not necessarily HAVE to involve invasive testing and that Obgyns are responsible for communicating risks in a sensitive and clear manner.  No one should be manipulated emotionally into going for further testing by ANY means.  The work of a physician is to put the facts on the table and help patients to navigate their way around the implications of those facts.

Some useful info:

What is fetal nuchal translucency?

Abi Berger, Science editor

In the fetus fluid collects behind the neck, much like it does in dependent ankle oedema in later life. This occurs partly because of the fetus’s tendency to lie on its back and partly because of the laxity of the skin of the neck. As with ankle oedema this accumulation of fluid can represent the end point of several pathological processes, including heart failure. Fluid collecting behind the neck can be detected as nuchal translucency by ultrasound scanning, and it can be measured. The more fluid that has accumulated, the greater the risk of an abnormality being present.
Chromosomal abnormalities—for example, Down’s syndrome—can cause fluid accumulation. Chromosome 21 contains the gene that codes for type VI collagen. In trisomy 21 one subunit of this collagen can be overexpressed, resulting in connective tissue that has a more elastic composition.
Failure of fetal movements is also likely to cause nuchal thickening. Neuromuscular abnormalities can cause poor breathing and body movements, both of which may lead to fluid collecting as happens in peripheral oedema. One example is arthrogryposis, which causes contractures and flexion deformities and can be fatal. Other causes are intrathoracic and extrathoracic compressive syndromes. If the thoracic cage is abnormally narrow or an intrathoracic lesion is present (such as a diaphragmatic hernia) the vessels in the fetus’s head and neck become congested and oedema occurs. Likewise, if heart failure occurs (due to congenital cardiac abnormalities or cardiac dysfunction) more extravascular fluid will form.
There is a brief opportunity between 10 and 14 weeks’ gestation (when the fetal lymphatic system is developing and the peripheral resistance of the placenta is high) to detect abnormal fluid collections. After 14 weeks the lymphatic system is likely to have developed sufficiently to drain away any excess fluid, and changes to the placental circulation will result in a drop in peripheral resistance. So after this time any abnormalities causing fluid accumulation may seem to correct themselves and can thus go undetected by measuring nuchal translucency.
About 90% of fetuses with a nuchal translucency measurement of 3mm (“high”) at 12 weeks’ gestation are normal at birth, while 10% have major abnormalities. Only 10% of babies with a measurement of 6mm (“very high”) at this time will be found to be normal. In centres that perform nuchal translucency measurements, once a fetus has been identified as having a high nuchal translucency, mothers are usually offered chorionic villus sampling and a repeat scan about two weeks later to exclude chromosomal or major physical abnormalities.

Source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1114626/

Other Sources:
http://en.wikipedia.org/wiki/Nuchal_scan

Chorionic Villus Sampling (CVS)

Amniocentesis