Medical Jargon


Wolf-Hirschhorn Syndrome (also called 4p-deletion): A condition that is caused by a missing part (deletion) of the short arm of chromosome 4. This missing genetic material results in severe developmental delays, a characteristic facial appearance, and may include a variety of other birth defects.

Spina Bifida: A birth defect in which the backbone and spinal canal do not close during the forming of the spine. Spina bifida refers to any birth defect involving incomplete closure of the spine.

Club Foot: A congenital deformity involving one foot or both feet. The affected foot appears rotated internally at the ankle making it look like a golf club.

Atrial Septal Defect (ASD): A congenital heart defect in which the wall that separates the upper heart chambers (atria) does not close completely.

Ventricular Septal Defect (VSD): Describes one or more holes in the wall that separates the right and left ventricles of the heart (the lower heart chambers). 

Echocardiogram (ECHO): A sonogram of the heart (this is not an EKG/ECG which refers to an electrocardiogram) also, known as a cardiac ultrasound. It uses standard ultrasound techniques to image two- or three-dimensional slices of the heart. 

Fetal Pleural Effusions: Excess fluid between the two membranes (the pleurae that envelop the lungs.

Biophysical: A 30-minute test using an ultrasound to monitor the following four areas:
1 – Movement
2 – Muscle Tone and Reflex
3 – Amniotic Fluid
4 – Breathing
Each area is worth 2 points for a total of 8 points if the baby passes all four areas.
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Blood Flow through Umbilical Cord: The umbilical cord is the lifeline between the baby and placenta. While we always look at breathing during the Biophysical the placenta is what keeps the baby growing healthy and strong. The cord’s function is to protect and help transport the vessels that travel between the baby and placenta. By utilizing ultrasound and Doppler flow measuring techniques the doctors and nurses are able to assess fetal blood through the cord. By measuring the amount of forward blood flow through the umbilical artery an overall measure of fetal health can be obtained. In general, the more forward blood flow from the baby to the placenta through the umbilical artery, the healthier the baby.

As Dr. GB explained it to us, forward flow is good while reverse flow means something is not working. When the doctor and techs told us the blood flow has increased it means the range has started to get outside the norm.  All flow is still forward and we have no reverse dips but it still needs to be monitored. One of the main reasons is to get a better sense of how the placenta is working. Normally growth and movement are key factors to the viability of the placenta but due to the chromosome abnormality we need to look at addition factors to ensure we cover everything.

Non-Stress Test (NST):  We actually had two of these with Connor because once you go past your due date they want to make sure the placenta is still working. Both times the doctor cut the test short with Connor because he was moving so much there was no concern at all. He is kind of a show-off.

This test involves attaching one belt to the mother’s abdomen to measure fetal heart rate and another belt to measure contractions (yeah right, like our babies ever give us natural, non-induced contractions). Movement, heart rate and “reactivity” of heart rate to movement are measured for 20-30 minutes.  The primary goal of the test is to measure the heart rate of the baby in response to its own movements.

Healthy babies will respond with an increased heart rate during times of movement, and the heart rates will decrease at rest. The concept behind a non-stress test is that adequate oxygen is required for fetal activity and heart rate to be within normal ranges. When oxygen levels are low, the fetus may not respond normally. Low oxygen levels can often be caused by problems with the placenta or umbilical cord.

A reactive non-stress result indicates that blood flow and oxygen to the baby is adequate. A nonreactive result requires additional testing to determine whether the result is truly due to poor oxygenation or whether there are other reasons for the nonreactivity.
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Aorta Coarctation: A congenital narrowing of the aorta, the large blood vessel that branches off your heart and delivers oxygen-rich blood to your body. When this occurs, your heart must pump harder to force blood through the narrow part of your aorta.

Pulmonary Stenosis: This valve separates the right ventricle in the heart and the pulmonary artery. The pulmonary artery carries oxygen-poor blood to the lungs. Stenosis occurs when the valve cannot open wide enough resulting in less blood flow to the lungs

Oral Gastric (OG) Tube: Small, flexible tube inserted through the nose or mouth, down the esophagus, and into the stomach. It is used to drain the stomach or feed the infant. 

Nasal Cannula (NC) Tube: A device used to deliver supplemental oxygen or airflow to a person in need of respiratory help. 

Cleft Palate: A condition in which the two plates of the skull that form the hard palate (roof of the mouth) are not completely joined or do not fuse properly. JD’s seems to be narrow and small but this is very common with WHS.  

Nasogastic (NG) Tube: A tube that is passed through the nose and down through the nasopharynx and esophagus into the stomach. Very similar to the OG but it goes through the nose rather than the mouth

Gastrostomy Tube (G-Tube): A tube inserted through the abdomen that delivers nutrition directly to the stomach. It's one of the ways doctors can make sure kids with trouble eating get the fluid and calories they need to grow.

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Bradycardia: A slowed heart rate measured as less than 80 beats per minute in premature babies. In Premies, bradys often occur with low blood oxygen levels. When the blood oxygen levels fall the heart will slow down in response the low levels. A low blood oxygen level is called a Desaturation or Desat. 

Desaturation (Desat): Occurs when the blood oxygen levels dip below 86. A healthily adult on room air should have a consistent blood oxygen level of 100%.  Most of the time when it drops below 86 it means the monitor is not picking up properly so you look at the baby to ensure he/she is not blue.

JD has had one Desat where he turned pale-gray and the nurse gave him a mist of oxygen but it brought his levels right back up to the high 90s within 20 seconds.
Nissen fundoplication: An operation to prevent food and liquids from going from the stomach up into the esophagus 
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Tethered Cord: A pulling of the spinal cord at the base of the spinal canal. The spinal cord normally hangs loose in the canal, free to move up and down with growth and bending and stretching – yet a tethered cord is held taut at the end, literally “tethered” at the base. JD’s spinal cord should end around the L1 vertebrae but his ends around L3. 

Pulmonary Hypertension: A large ASD can lead to high blood pressure in the arteries of the lungs which makes the right side of the heart work harder than normal. The heart needs to work harder to force the blood through the vessels against this pressure. Over time, this causes the right side of the heart to become larger.  Blood may be pushed back through to the left side of the heart forcing it to skip the lungs pumping unoxygenated blood into the body. 

MIC-KEY: The port that allows food to be delivered directly into JD’s stomach.
 


Myoclonic Seizures: Described as “jumps” or abnormal movements on both sides of the body 

Febrile Seizure: A convulsion associated with a significant rise in body temperature

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