Glossary of Terms/Concepts

Trisomy 21/ Down syndrome (Ds)- A condition occurring most commonly when there are 3 of the 21st chromosome in an individual's cellular makeup. Aside from some cognitive delays/ disabilities there are often common physical characteristics observed in these individuals. Named for Dr. John Langdon Down who first described the condition.

OT- Occupational therapy- often recommended for persons with Down syndrome to help improve fine motor skills and activities of daily living.

PT-Physical Therapy- often recommended for persons with Down syndrome to help improve gross motor skills and activities of daily living.

Sandal Gap- larger space between first and second toe, often observed in individuals with Ds.

Epicanthal folds- refers to the skin fold of the upper eyelid that gives many individuals with Ds their unique almond shaped eyes.

Single Palmar Crease- One crease on the palm of one's hand as opposed to the typical two creases. Often observed in individuals with Ds.

First Trimester Screening- a combination of ultrasound and bloodwork to give an indication of risk of chromosomal abnormalities such as Ds. This is ONLY A SCREENING and cannot tell you if your child for sure has Ds, etc. You must do further diagnostic testing to know for sure.

CVS- Chorionic Villus Sampling- A diagnostic test performed during pregnancy to determine chromosomal abnormalities among other things. A sample of the placenta is obtained, either by needle through the belly or vaginally, and the DNA makeup is observed. A slight chance of miscarriage is possible with this test. Around 98-99% accurate.

Amniocentesis- A diagnostic test performed during pregnancy to determine chromosomal abnormalities, lung maturity, and other useful information. A sample of amniotic fluid (the fluid around the baby) is obtained via needle through the stomach and tested/observed. Again, a small chance of miscarriage is possible with this test. Around 98-99% accurate.

Intrauterine Insemination (IUI) - fertility treatment where a woman generally takes medication (often just oral tablets) to produce more eggs and then sperm is placed in the uterus for a better chance of fertilization. There is no way of controlling how many eggs are fertilized and therefore this sometimes results in high order multiples (think Jon and Kate or the Jones family).

In Vitro Fertilization (IVF) - lengthy and involved fertility treatment where again a woman takes medication (generally injections) to produce more eggs. The eggs are then retrieved from her ovaries. The are combined with the man's sperm in a laboratory and if fertilization occurs they are allowed to grow for a number of days (usually 3 or 5). On the 3rd or 5th day, the fertilized egg(s) (now called embryos) are placed back into the woman's uterus. It is then that one hopes and prays for the embryo to implant in the uterus and result in pregnancy. Much more controlled than IUI as the number of embryos placed in the uterus can be limited and chosen. We put back two (thinking we could handle twins) and ended up with one little baby.