Genetic Counseling & Karyotypes
A healthcare service that helps families understand the risk of inherited genetic conditions.
Genetic counseling
A procedure that collects amniotic fluid containing fetal cells for genetic testing.
Amniocentesis
A DNA sequence difference associated with a disease-causing allele.
Genetic marker
A process where eggs and sperm are combined in a laboratory.
In vitro fertilization (IVF)
The insertion of genetic material into cells to treat disease.
Gene therapy
A visual display of chromosomes arranged by size, shape, and banding pattern.
Karyotype
A procedure that collects cells from the developing placenta for genetic testing.
Chorionic villus sampling (CVS)
A tool containing millions of DNA sequences used to detect disease-associated alleles.
DNA microarray (gene chip)
The type of cell removed from a developing embryo for genetic diagnosis.
One embryo cell
Gene therapy where cells are removed, modified outside the body, and returned.
Ex vivo gene therapy
A karyotype can detect abnormalities such as having three copies of chromosome 21.
Down syndrome (trisomy 21)
The main advantage of CVS compared with amniocentesis.
Earlier test results
The signal produced when DNA binds to matching sequences on a microarray.
Fluorescence
After genetic testing, embryos without abnormalities may be placed into the uterus through this process.
Implantation
Gene therapy where genetic material is delivered directly into the body.
In vivo gene therapy
The easiest cells to collect from adults for chromosome analysis because they contain nuclei.
White blood cells
A method using sound waves to create images of the fetus and detect possible abnormalities.
Ultrasound
The process of determining the exact order of nucleotides in DNA.
DNA sequencing
Small nonfunctional cells produced during female meiosis that can be tested for mutations
Polar bodies
Modified viruses or liposomes that deliver genetic material into cells.
Vectors
A technique that uses fluorescent DNA markers to identify specific chromosome locations.
FISH (fluorescent immunohistochemistry in situ hybridization)
A condition caused by three copies of chromosome 18.
Edwards syndrome
Using information from a person’s genome to choose medications that work best for them.
Pharmacogenomics
Testing polar bodies helps determine whether an egg received this version of a gene.
Normal or mutated allele
In SCID treatment, this normal gene is inserted into bone marrow stem cells to restore immune function.
ADA gene (adenosine deaminase gene)