Medical Interventions Unit 2

Amniocentesis

Amniocentesis

A technique for determining genetic abnormalities in a fetus by the presence of certain chemicals or defective fetal cells in the amniotic fluid, obtained by aspiration from a needle inserted into the uterus

Anneal

To be capable of combining with complementary nucleic acid by a process of heating and cooling

Carrier Screening

Indiscriminate examination of members of a population to detect heterozygotes for serious disorders

Chorionic villus sampling (CVS)

A technique for diagnosing genetic and congenital defects in a fetus by removing and analyzing a sample of the fetal portion of the placenta

Denaturation

In DNA, the separation of the two strands of the double helix.

Gene

A discrete unit of hereditary information consisting of a specific nucleotide sequence of DNA

Genetic Counseling

A process of communication that deals with the occurrence or risk that a genetic disorder will occur in a family

Genetic Testing

The use of methods to determine if someone has a genetic disorder, will develop one, or is a carrier

Genome

The complement of an organism's genes; an organisms genetic material

Genotype

The genetic makeup of an organism

Karyotype

A display of the chromosome pairs of a cell arranged by size and shape

Newborn Screening

The analysis of a neonate's blood for metabolic or genetic disorders to prevent mental retardation, disability or death

Phenotype

The physical and physiological traits of an organism

Polymerase Chain Reaction

A technique that involves copying short pieces of DNA and then making millions of copies in a short period of time

Preimplantation Genetic Diagnosis (PGD)

In assisted reproductive technology, the determination of genetic abnormalities in the embryo before it is transferred to the uterus

Primer

A short piece of DNA or RNA that is complementary to a section of template strand and acts as an attachment and starting point for the synthesis strand during DNA replication

Restriction Enzyme

A degradative enzyme that recognizes specific nucleotide sequences and cuts up DNA.

Single Nucleotide Polymorphism (SNP)

One base-pair variation in the genome sequence

Supernatant

The (usually) clear liquid left behind after a precipitate has been spun down to the bottom of a vessel by centrifugation

Taq Polymerase

A DNA synthesis enzyme that can withstand the high temperatures of PCR

Thermal Cycler

An instrument that automatically cycles through different temperatures used to complete PCR reactions

Ultrasonography

A noninvasive technique involving the formation of a two-dimensional image used for the examination and measurement of internal body structures and the detection of bodily abnormalities

Cloning

Using a somatic or body cell from a multicellular organism to make one or more genetically identical individuals

Gene Therapy

The alteration of the genes of a person afflicted with a genetic disease (Hemophilia)

In Vitro Fertilization

A procedure in which gametes are fertilized in a dish in the laboratory, and the resulting zygote is implanted in the uterus for development

Preimplantation Genetic Diagnosis (PGD)

In assisted reproductive technology, the determination of genetic abnormalities in the embryo before it is transferred to the uterus

Sex Selection

Methods used to predetermine or diagnose the sex of an embryo for the purpose of selecting only those embryos of a particular sex for transplanting to the uterus of a woman

Vector

An agent (as a plasmid or virus) that contains or carries modified genetic material and can be used to introduce extra genes into the genome of an organism