Medical

hCG

Maternal serum screening. Tests for hormones made in placenta. Abnormal levels can indicate increased risk for a chromosome defect.

PAPP-A

Maternal serum screening. protein made by placenta Abnormal levels could mean an increased risk for a chromosome defect.

NT Ultrasound

uses ultrasound to look at the back of the baby's neck. It checks for increased fluid or skin thickening. These might mean a defect.

Cell-free fetal DNA analysis

This tests the baby's DNA that is in your blood. It checks for certain abnormal chromosomes. It can also check for defects in the fetal sex chromosomes (X or Y). Cell-free fetal DNA screening does not find structural birth defects, such as spina bifida or defects in the abdominal wall.

Chorionic villus sampling (cvs)

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

Amniocentesis

a technique for determining genetic abnormalities in the 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.

Karyotype

A display of the chromosome pairs of a cell arranged by size and shape.  Importance- can help identify genetic problems as the cause of a disorder or disease

Down Syndrome

A genetic disorder caused by an extra copy of chromosome 21.

Duchenne Muscular Dystrophy

caused by a problem with the gene that makes a protein called dystrophin, which is important for muscle function. The gene for dystrophin is located on the X chromosome. - X-Linked Recessive

Cystic Fibrosis

caused by a mutation in a gene called CFTR, which is located on chromosome 7. Everyone has two copies of this gene—one from each parent. This leads to the production of thick mucus that can cause problems in the lungs and digestive system. - Autosomal Recessive

Huntington’s Disease

Huntington’s Disease is caused by a mutation in a gene called HTT, which is located on chromosome 4. Unlike some other genetic disorders, you only need one mutated copy of this gene to get the disease. causes nerve cells (neurons) in parts of the brain to gradually break down and die, causing movement, thinking, and mental health problems. - Autosomal Dominant

Leber hereditary optic neuropathy

genetic disease that causes vision loss, often starting in one eye and progressing to both eyes. caused by mutations in mitochondrial DNA. ​​typically affect genes involved in energy production in the mitochondria, leading to vision loss. Since mitochondrial DNA is inherited maternally, LHON is passed down from mother to child. - Passed from mother (mitochondrial)

Alzheimer’s Disease

memory loss. Abnormal buildup of protein on 4 chromosomes. - Autosomal Dominant

Folic Acid

A B-vitamin that aids in the development of the neural tube, which becomes the brain and spine.

CRISPR

A gene-editing tool that modifies DNA by cutting and repairing it to prevent or cure genetic diseases. They could use CRISPR to edit the gene by changing the DNA from the harmful variant to a healthy variant. This could potentially prevent or cure a genetic disease. CRISPR proteins act like scissors, cutting DNA. When DNA is cut, the cell repairs it

Ethics in Genetic Engineering

Safety: Concerns about unintended consequences for individuals and ecosystems. Consent: Issues regarding consent for germline editing affecting future generations. Equity and Access: Worries about unequal access to genetic technologies, leading to increased inequality. Genetic Discrimination: Potential misuse of genetic information leading to discrimination in employment and insurance. Biodiversity: Risk of genetically modified organisms outcompeting natural species, harming biodiversity. Playing God: Ethical concerns about humans interfering with natural processes. Therapeutic vs. Enhancement: Distinction between curing diseases and enhancing traits raises ethical questions. Regulation: Varying laws across countries complicate research and application in genetic engineering.

Adeno-associated Virus

a virus that infects primates and is not known to cause disease. Needs helper virus. 5000bp. Carries dna. Div. & Non-div. No immune response. Efficient.

Retrovirus

a virus that can infect humans and inserts a copy of its genome into host cells. 8000 bp. Carries RNA. Only infected dividing cells. Less efficient. Immune response.

Herpes Virus

a virus known to cause herpes type 1 and 2 in humans. 20000 bp. Carries DNA. only infect nervous cells. Less efficient. Immune response.

Liposome

a spherical vesicle surrounded by a lipid bilayer. Any size. No immune response. Less efficient. No specificity for cell type.

Lentivirus

a retrovirus that is known to cause serious diseases in humans and animals. 8500 bp. RNA. enters div & non-div cells.efficent. No immune response.

Plasmid DNA

A circular DNA molecule found in prokaryotypes and some eukaryotic cells. Any size. DNA. no immune response. No specific cell type. Less efficient. 

Adenovirus

A virus known to cause a variety of illnesses in humans. 7500 bp. DNA. Efficient. Enter multiple types. Immune response.