Generic Counseling

Today, we went to see Dr. Kenneth Chan. A Perinatologist.

We were referred by our OB-GYN to meet with Dr. Chan because of my Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency diagnosed when I was a new-born. According to Web-MD, G6PD is defined as...

an inherited, sex-linked, metabolic disorder characterized by an enzyme defect that leads to the breakdown of red blood cells (hemolysis) upon exposure to stresses associated with some bacterial infections or certain drugs. A deficiency of this enzyme may result in the premature destruction of red blood cells (an acute hemolytic anemia or a chronic spherocytic type) when an affected individual is exposed to certain medications or chemicals, experiences certain viral or bacterial infections, and/or inhales the pollen of, or consumes, fava beans (favism).

During our visit, Dr. Chan explained to us that our offspring will have a 50/50 chance of inheriting G6PD if the baby turns out to be a girl, and none if it is a boy. Assuming that my wife does not have G6PD, our babies should be free of any G6PD symptoms. However, should we give birth to a girl, her off-spring(s) require close monitoring of G6PD.

During the visit, Dr. Chan also ran a few Ultra-sound scan on the fetus. This time, we are able to clearly see the arms and legs of our baby, as well as the heartbeat!

However, Dr. Chan spent quite a bit of time focusing on the neck area of our baby. He was running a few measurement off the scan, and he told us that the space between the neck bone and the skin of the baby is at borderline. He explained to us that most babies at this stage should have a thickness of 25-26 millimeters. Our Baby scored a 29mm. A borderline for Down Syndrome symptoms.

He explained that most doctors won't sound an alarm until the thickness reaches 30mm. He likes to bring out all the facts to the parents, and in this case, he always inform the parents when the thickness is measuring between 27mm to 29mm.

He explained to us that there are a few options for us to consider.
1) Do nothing
2) Run a Blood Test
3) Take a sample from the fetus for further lab testing.

He also explained to us that the accuracy of each study.
1) Ultra-sound (which is what he was doing): 70% accurate
2) Blood Test: 90% accurate
3) Sample Test: 100% accurate

As for the risks of each test:
1) Blood Test: None
2) Sample Test: Risk of miscarriage.

Dr. Chan also explained that based on the Ultra-sound images, the risk is at approximately 1 in 200 for our baby to have Down Syndrome.

This is certainly not the news that we were looking for. After a brief discussion with my wife, we have decided to draw some blood for a test.

We shall find out the test result in about 5 days.