I made these 'learning posts' in June for Spina Bifida Awareness month, but thought I'd make a stand-alone blog so that if anyone is interested, all of the information is here. And I can add as I learn more about spina bifida as well!

Spina Bifida is the most common birth defect in North America. My son Nickolas was born November 13, 2009 with spina bifida and I have chronicalled our journey here, in my personal blog.

I hope you enjoy and learn something!


The information from this blog has been collected by myself to share what I have learned. It should in no way replace medical recommendations or consultation. This is for educational and information purposes only.

Start by picking a topic below:
Showing posts with label ultrasound. Show all posts
Showing posts with label ultrasound. Show all posts

Sunday, January 17, 2016

Bladder Tests

There are some common tests that the urologist may do to see what is going on with the bladder and kidneys.



A valuable resource for different urinary and bladder tests can be found at AboutKidsHealth

The first and least invasive is kidney ultrasound. It allows a view of what the kidneys look like. They look at the size of the kidneys, any scarring, hydronephrosis (dilation of the kidney) and any indication of infection and determine if the kidneys are healthy.


Hydronephrosis is when the kidney swells up (increases in size) because urine is building up in it. It can be caused if there is a blockage and urine cannot drain out, or if urine in the bladder is being pushed back into the kidney (reflux). There are different grades of kidney reflux.
To prevent kidney reflux it is important to relax the bladder.



A VCUG is with an x-ray. VCUG stands to Voiding CystoUrethroGraphy.


You lie down under an x-ray machine. A catheter is put into the bladder and the bladder is filled with contrast. It looks at the bladder capacity (how much urine the bladder can hold) and what happens when the bladder is full. What is the shape of the bladder? Does it leak out? Or does it reflux into the kidney? The contract allows the x-ray to see exactly what urine does. The test takes about 15-20 minutes and gives and understanding of bladder capacity.

The picture shows reflux on one side (http://www.hindawi.com/journals/au/2011/852928.fig.001.jpg)

Urodynamics is another test.
Urodynamics is to evaluate the relationship between pressure in the bladder and flow of urine through the urethra. The test measures and evaluates filling the bladder, emptying the bladder and tries to recreate instances of leaking. All of the information is recorded on a video screen

http://img.medscapestatic.com/pi/meds/ckb/42/13242tn.jpg

This test is a little more involved, it measures filling the bladder with fluid and measuring what the bladder does. A catheter goes into the bladder and the rectum and electrodes measure pressure.
It goes very slow, because it is looking as bladder movement and spasms it is important to stay still for most of the time.


At different times during the test they want to see how the bladder reacts to different movements, so you are asked to cough at specific times. When we went he never wanted to cough when it was time, and it was something we should have practiced ahead of time, but I never thought about it. They looked to see what the bladder would do when it was completely full.
Usually my son doesn't feel it when his bladder is full, but this time when it was very uncomfortable when it got full.

All of these tests helps to give an idea of what is going on with the bladder and kidneys. A neurogenic bladder means that the bladder does not work like it should due to neurologic damage (damage to the nerves that tell them what to do). There is a variety of things that the bladder may due because it doesn't know what to do.
Urology is a very important member of the health care team and helps to provide professional guidance in the care of bladder and kidneys.

Resources:
http://www.aboutkidshealth.ca/En/HealthAZ/TestsAndTreatments/Tests/Pages/UrinaryandBladderTestsHome.aspx

Monday, June 4, 2012

Prenatal Testing - a diagnosis

There are a number of prenatal tests that you do when you are pregnant.

The first test that they offer is called the Integrated Prenatal Screening (IPS), at 11, 13 and 15-18 weeks gestation. The IPS gives you a statistic  probability that your child will have a genetic problem such as Down Syndrome, but also spina bifida.

The IPS test uses measurements from 2 different blood tests and one ultrasound, as well as looks at mother age to give a statistical probability of different problems.
The IPS screen measures the level of a protein called alpha-fetoprotein (AFP), which is made naturally by the fetus and placenta. During pregnancy, a small amount of AFP normally crosses the placenta and enters the mother’s bloodstream. But if abnormally high levels of this protein appear in the mother’s bloodstream it may indicate that the fetus has a neural tube defect. [Diagnosing Spina Bifida in Infants - I don't actually like the article - but the definition is good]

Of every woman who takes this test 2-3% will have a positive result - but most of these women will have a false positive and everything is fine. A false negative is rare - it would mean that there is not a high level of AFP in the mothers blood system. But it is possible to still have spina bifida (as we found out)

Statistics are a funny thing. When I was pregnant with my daughter Katheryn we had a false positive (1 in 7 chance of having a child with trisomy-18).  With Nickolas we had a false negative, I later found out that our probability of having a child with spina bifida was 1 in 800, higher than the average of 1 in 1200 (in Canada) but definitely below the limits of a positive result (1 in 100).
Well, we were that 1 person in 800.

There is current research suggesting that early prenatal ultrasound measurements at 11-13 weeks could be used as an early detection of spina bifida.

The second round of normal prenatal testing is usually around 18-20  weeks and is another ultrasound. This is usually the one everyone is so excited about because you can sometimes find out the sex of the baby. But they do alot more than just look at the sex.
Different measurements of the head and face as well as the body can be made - it is called an anatomy scan.


In the case of spina bifida the back lesion (missing vertebrae) may not be seen in ultrasound, but other markers (clues) can be seen on this 20 week ultrasound. Ultrasound findings of a lemon sign (lemon shaped head), banana sign (cerebellum shaped like a banana) or absent cerebellum (or not visualized - doesn't mean it is actually missing) all suggest that spina bifida is present.

All of the regular prenatal testing is meant to clue in the doctor/midwife that there could be a problem. Additional testing would then be done to follow up with the initial findings.

The first, least invasive test is a second level ultrasound (level 2). Often a mother must travel to an unfamiliar medical centre for this test with doctors that she doesn't know.


This additional ultrasound is more targeted to look more closely at the specific markers that came up in the regular anatomy scan. The ultrasound is usually done by a specialist who understands high risk pregnancies.
For the mother, it is not any different from all the other ultrasounds. It might take longer and more turning, moving for an accurate picture.

In my experience, my second level ultrasound lasted over 1 hour and there was lots of flipping and flopping to get the right measurements. The ultrasound technician is not allowed to tell you anything. But when an ultrasound takes over an hour it is not a good sign.
I was lucky that a doctor was able to talk to me that day, and that I didn't have to wait to hear the words... spina bifida.

Additional testing was offered to try to get more information.

This additional testing is more invasive and does come with a risk.

An amniocentesis is when they take a small sample of amniotic fluid (20mL) to examine the fetal DNA. An ultrasound is used to help to guide the needle.  It takes only a couple of minutes to take the fluid, most of the time is waiting and getting into the right position.


The needle poke is not much worse than getting blood taken (not nearly as much pain as you have in your head you would feel if someone stuck a needle into you belly). It mostly just feels weird. I thought you would need a bandaid or something. But it just leaves a tiny red mark.

The puncture site heals over in 24-48 hours and you are supposed to take it easy. An amniocentesis does come with a risk of miscarriage and infection. Some parents do not believe that the risk of an amniocentesis outweighs the benefit of reaffirming a spina bifida diagnosis and ensuring there is no other chromosomal problems.

To reaffirm the spina bifida diagnosis, the amniotic fluid will show increased AFP levels. It takes about 48-72 hours for a FISH study. This is just a quick chromosome count and will rule out a trisomy chromosome (where there is 3, instead of 2). It also counts the X and Y and will tell you girl or boy.

Another test in the prenatal arsenal is an MRI.
The MRI uses a magnet and radio frequency to show internal structures. It allows you to look at soft tissues easily and does not expose mother or child to radiation.
It takes about 45-60 minutes of staying still in a very enclosed space with loud noises moving around you.
Personally I sang the words of the Phantom of the Opera in my head, with my eyes tightly shut. I got through Act I.


You get a cool picture at the end of it.
You can actually SEE the spina lesion at the base of the spine - see the white line - that's the spinal cord, and see how it's open to the skin?


The results should be reviewed by a doctor who actually knows about spina bifida. Our genetics doctor was our go-to person at the high risk pregnancy clinic, and he had valuable, up-to-date information about what spina bifida is.
Our MRI results were reviewed and explained to us by a pediatric neurosurgeon, and who was the same doctor who would eventually do the surgery. We also talked about plan of care and what to expect with the developmental pediatrician at the local spina bifida clinic.

All of the information that is relayed to parents (and family) by medical professionals should also be screened by WHO is telling you. A family doctor, regular OB, midwife deals with normal pregnancies. This is a pregnancy that has become different. The family doctor, OB, midwife may never have seen an infant or child with spina bifida and their information may be coming from textbooks that are decades old.

To get true, valuable information about the results of what you are dealing with, you need to go to doctors who do this. Doctors who know what spina bifida looks like.