Genetic Assessment and Counselling in Maternal and Child Nursing

Vocabulary flashcards covering genetic inheritance patterns, chromosomal abnormalities, and diagnostic testing for maternal and child health nursing.

Client advocacy

Safeguarding and advancing the interests of clients and their families by knowing available health care services, establishing relationships, and helping them make informed choices.

National health goals

Objectives intended to help citizens understand the importance of health promotion and disease prevention, serving as a basis for grant funding and evidence-based practice.

Genetics

The study of the way inherited or genetic disorders occur; the science of heredity.

Cytogenetics

The study of chromosomes by light microscopy and the method by which chromosomal aberrations are identified.

Genes

The basic units of heredity composed of segments of DNA ($\text{deoxyribonucleic acid}$) that determine both physical and cognitive characteristics of people.

Autosomes

The $22$ pairs of chromosomes in a human cell that are not sex chromosomes.

Alleles

Two like genes for every trait represented in the ovum and sperm on autosomes, located at fixed positions on chromosomes.

Phenotype

A person's outward appearance or the expression of their genes.

Genotype

A person's actual gene composition.

Genome

The complete set of genes present in an individual, estimated to be about $50,000$ to $100,000$; normally abbreviated as $46XX$ or $46XY$.

Homozygous

A condition where a person has two like genes for a trait on two like chromosomes.

Heterozygous

A condition where the genes for a trait differ (e.g., one healthy gene and one unhealthy gene).

Autosomal Dominant Disorder

A condition expressed when a person is either homozygous dominant or heterozygous; it typically shows a vertical transmission pattern in family genograms.

Autosomal Recessive Inheritance

Inheritances that tend to be biochemical or enzymatic, requiring two genes for the disease to be present; examples include cystic fibrosis and phenylketonuria.

X-Linked Dominant Inheritance

Inheritances transmitted on the X chromosome where only one trait need be present for symptoms to manifest; all female children of affected men will be affected.

X-Linked Recessive Inheritance

Disorders like Hemophilia A or color blindness where the gene is recessive on the X chromosome; disease is manifested in males who receive the affected gene from their mother.

Multifactorial Inheritance

Disorders appearing to occur from multiple gene combinations possibly combined with environmental factors, such as heart disease, diabetes, or cleft lip.

Imprinting

The differential expression of genetic material that allows researchers to identify whether chromosomal material came from the male or female parent.

Karyotype

The arrangement resulting from photographing and displaying chromosomes to identify their number and specific parts.

Fluorescent in situ hybridization (FISH)

A process that allows immediate karyotyping by staining chromosomes, rather than waiting for cells to reach metaphase.

Nondisjunction

An uneven division during meiosis resulting in sperm or ova with $24$ or $22$ chromosomes instead of the haploid number of $23$.

Balanced translocation carrier

An individual with a normal chromosome count of $46$, but where one chromosome is misplaced or abnormally attached to another.

Mosaicism

An abnormal condition where nondisjunction occurs after fertilization during mitotic division, resulting in different cells having different chromosome counts.

Isochromosomes

Chromosomes that divide horizontally rather than vertically, resulting in mismatched long and short arms.

Consanguineous

A relationship between closely related people (e.g., first cousins), which increases the likelihood of expressing recessively inherited diseases.

Dermatoglyphics

The study of surface markings of the skin, such as fingerprints or palmar creases, used to note abnormalities associated with certain disorders.

Alpha-fetoprotein (AFP)

A glycoprotein produced by the fetal liver that peaks in maternal serum between the $13\text{th}$ and $32\text{nd}$ week; used as a routine screening test at the $15\text{th}$ week.

Chorionic Villi Sampling (CVS)

A diagnostic technique retrieval and analysis of placental cells for chromosome or DNA analysis, typically performed at $8$ to $10$ weeks.

Amniocentesis

The withdrawal of amniotic fluid through the abdominal wall for analysis at the $14\text{th}$ to $16\text{th}$ week of pregnancy.

Percutaneous Umbilical Blood Sampling (PUBS)

Also known as cordocentesis, the removal of blood from the fetal umbilical cord at about $17$ weeks using an amniocentesis technique.

Fetoscopy

The insertion of a fiberoptic scope through a small incision in the mother's abdomen to visually inspect the fetus for gross abnormalities.