Our 20 week ultrasound was supposed to be an exciting day, we had looked forward to it for weeks. It was scheduled for valentines day and we had very high hopes for a positive outcome. Our 12-week risk factor test for genetic problems had come back really good so we were anticipating flying through the 20 week scan without a hitch. We showed up in the morning for our scan and went through the process of the ultrasound with the technician – the baby seemed to be breach and turned over on it’s stomach so they couldn’t get a good view of all the organs. The 20-week scan is also called the anatomy scan, it is the time when the doctors look at the inner workings of the baby’s anatomy, are all the organs present, are they in the right place, hooked up correctly, etc. etc.
Things seemed to be going well, we were asked if we wanted to know the sex and we said we did. “It’s a girl”, she said, “congratulations”. They started identifying the organs and we have a, quite long, DVD of our scan – but they were unable to get a good look at the heart and asked us to go walking the hallways to get the baby to turn so they could get a better view. When we came back there was a new doctor in the room with the technician, the scan continued. It was at this time that we realised that there was something wrong…
Following the scan we sat down with the doctor to discuss the situation and the implications therein. It seems that what they could see was that there is one vertebrate that is malformed, more in the shape of a wedge than a block. The doctor seems to think it is a very slight curve and that it could even be so slight that it may not be noticeable – this is one thing that we may not know the full extent of until after the birth. It is difficult to see the extent during an ultrasound. In addition the stomach had developed on the right side of the body (the wrong side), this in itself isn’t necessarily uncommon. There are and have been many people that are born with organs that have developed on the wrong side of the body. In fact, in the years before ultrasounds, something like this may not be known until someone has surgery or they may never know. The stomach seems to be hooked up and working correctly even though it is on the wrong side. Unfortunately, it is not as simple as “it’s on the wrong side but it’s okay” – in many cases when the stomach is on the wrong side, it can mean that there are other things wrong. It can mean that there is also some heart problems or heart involvement that goes along with it – so because of this the doctor suggested that we try to do an amniocentesis to insure that there is not something that is causing these problems, something genetic, something bigger. We agreed and proceeded with the amnio.
An amnio is something I never wanted to do. It’s risky and after all our efforts in achieving an successful pregnancy I was so afraid that we could lose the baby just doing the amnio. An amniocentesis is a procedure involving a long thin needle, that is inserted through the belly into the amnioiatic sac to withdrawl
the genetic material that surrounds the baby. There is no anesthesia for this procedure because the size of the needle for the anesthetic is the same as for the procedure itself – so you just go without. It didn’t really hurt and it was over quickly. They keep the ultrasound on your belly so they can see where the baby is and they don’t get near it. The risk is that the sac will burst and the baby will not be able to survive, there is a risk of miscarriage. The results of the amnio comes in two stages:
1) FISH (Fluorescent In Situ Hybridisation) – FISH is a rapid method for counting the number of certain chromosomes within cells. It can be used on an amniocentesis sample to get a faster result. It is always followed by the usual chromosome test. A normal FISH test is about 98% accurate in predicting that a baby will have a normal chromosome result. The results from the FISH come back in 24-hours it checks for major genetic diseases such as down’s syndrome.
2) An amniocentesis is a procedure that allows a small amount of the fluid around the developing baby (amniotic fluid) to be collected. This fluid contains cells from the baby that can be tested for some types of birth defects. The most common type of test done on an amniocentesis sample is a chromosome test. In some cases, tests for infections, spina bifida or other genetic conditions may be done. All of the chromosomes are looked at individually and evaluated.
Our Amnio came back negative for any genetic problems.
On one hand this is a good thing, but I have to ask myself “then how do these things happen?” and that lead’s to the next stages of evaluation and doctors.
Due to the stomach condition possibly being related to the heart, we wanted to rule out any heart problems and we called in a specialist, a paediatric cardiologist that specialises in reviewing baby’s heart via ultrasound to look for abnormalities. We had this appointment at about 23-weeks. It was a long 2-weeks waiting for this appointment, but we wanted this certain doctor and we just had to wait it out for an appointment. It was a long ultrasound appointment and in the end the doctor met with us to discuss the results.
The diagnosis at this point is an anomalous drainage of the Inferior Vena Cava (IVC) into the Left Atrium. To explain, the heart has a Single Ventricle Defect – (IVC) inferior vena cava is a major vein that carries blood from the legs and abdomen to the heart. The inferior vena cava usually connects to the heart’s right atrium, but in Baby Bird’s case it is connecting to the left atrium of the heart.
All blood enters the right side of the heart through two veins: The superior vena cava (SVC) and the inferior vena cava (IVC), the SVC collects blood from the upper half of the body. The IVC collects blood from the lower half of the body. Blood leaves the SVC and the IVC and enters the right atrium (RA). In the first instance this is not detrimental to the baby at birth, but if not surgically corrected there are many complications to follow with blood circulation in the body through life.
We don’t have our next appointment with the paediatric cardiologist until 32 weeks (7-8 weeks from now), at that point we will take another look at the heart and the IVC to see if anything else can be detected. We hope that the doctor will be able to see the IVC more closely and we will discuss our options after birth including surgical options.
For more information, I have attached a couple of journal articles regarding this specific abnormality.
I know that the post this time sounds a bit ominous but we have been given a positive outlook on the birth, that we will be able to make it through the birth and then the baby may be in hospital for monitoring while they assess the severity of the situation. Ultimately if the above proves true it would be likely that we would proceed with some type of corrective surgery. Our hopes are up and we are staying positive and although everything is not “okay” per se – we are focusing on being calm and waiting for the birth to see what our next steps are. Your prayers and thoughts are welcome and appreciated, and we will keep you informed of our progress.