Glossary of terms

Amniocentesis - a prenatal diagnostic test where amniotic fluid is withdrawn using a needle inserted into the uterus. The fluid and the cells are collected and the chromosomes are examined for chromosome conditions such as Down syndrome.

Birth defect: A physical condition that is present at the time of birth.

Chorionic Villus Sampling - a prenatal diagnostic test performed at 11–13 weeks in pregnancy. A small tissue of the developing placenta is removed through the vagina and examined for chromosome conditions such as Down syndrome.

Down syndrome – Also known as Trisomy 21, is a condition where an extra chromosome 21 causes distinctive physical features and intellectual delay.

Genetic counsellor - a health professional specialized in birth defects and genetic diseases. The counsellor has added training in social and family support and can provide families with genetic information, risks, options for genetic testing and support with decisions and decision-making.

Neural Tube Defect – Birth defects involving the development of the spine or brain. Spina bifida is one of the most common neural tube defects.

Perinatologist - An obstetrician who sub-specializes in perinatology. Perinatologiy is the branch of medicine dealing with the foetus and infant during and soon after birth.

Placenta – A pregnancy organ within the uterus that connects the mother with the baby and provides the baby nutrients for growth

Spina bifida - A birth defect where the spine and spinal cord don't develop correctly. Physical and intellectual problems that affect the child depend on the size and location of the defect. Problems can vary from paralysis (the inability to control muscles in the legs or arms) to very minor problems, such as a minor limp.

Trisomy 13 - A chromosome condition with three chromosome 13s, rather than the normal two. Children born with this syndrome have many birth defects and developmental delays due to the extra chromosome 13. Because of this, most children die soon after birth or in infancy

Trisomy 18 - A chromosome condition with three chromosomes 18s instead of the normal two. As with Trisomy 13, these children have many birth defects and developmental delays and most children die soon after birth or in infancy.

Ultrasound - prenatal test using sound waves to create a picture of the developing baby. Ultrasound can measure growth and examine body structures such as the heart and spine, screening for birth defects.

Commonly used Acronyms:

CVS - Chorionic villus sampling

ERA- Early Prenatal Risk Assessment Program

FTS- First Trimester Combined Screening

MSS- Maternal Serum Screening (same as Maternal Serum Prenatal Screening and Triple Screen)

MSPS-Maternal Serum Prenatal Screening (same as Maternal Serum Screening and Triple Screen)

NTS- Nuchal Translucency Screening