GENETICS

Genetics - the study of heredity and the variation of inherited

characteristics.

Gene - is the basic biological unit of heredity

Heredity - is a biological process whereby a parent passes certain

genes onto their children or offspring
ASSESSMENT FOR GENETIC DISORDERS
A. Family History
 Obtain information and document diseases in family members for a
minimum of three generations - includes half brothers and half sisters or
anyone related in any way as family.
 Include the mother’s age - some disorders increase in incidence with age.
 Family’s ethnic background - certain disorders occur more commonly in
some ethnic groups than others
 Any spontaneous miscarriages or children in the family who died at birth
- many instances, these children died of unknown chromosomal disorders.
 Extensive prenatal history - to determine whether environmental conditions
could account for the condition.
ASSESSMENT FOR GENETIC DISORDERS
B. Laboratory Findings:
 nuchal translucency sonogram
 MSAFP (Maternal serun level of @ fetoprotein)
 PAPP (Pregnancy associated plasma protein)
 beta hCG (beta human chorionic gonadotropin)
 cfDNA (cell free deoxyribonucleic acid)
 CVS (chorionic villi sampling)
 amniocentesis
Nursing Diagnoses:
 Decisional conflict related to continuation of genetic affected
pregnancy
 Fear related to outcome of genetic screening test
 Situational low self-esteem related to identified chromosomal
disorder.
 Deficient knowledge related to enheritance pattern of the family’s
inherited disorder
GENETIC DISORDERS
 Inherited or genetic disorders are disorders that can be passed from one
generation to the next because they result from some disorder in the gene
or chromosome structure.
 Genetic disorders occur in some ethnic groups more than others because
people tend to marry within their own cultural group.
 Some genetic disorders may occur due to occupational hazards, such as
toxic substance in the environment of workplaces.
 Genetic disorders occur at the the moment an ovum and sperm fuse when
the chromosome count is halved from 46 to 23. 90% of first trimester
spontaneous miscarriages may occur as the result of chromosomal
disorders.
 Other genetic disorders do not affect life in utero, so the result of the
disorder only becomes apparent at the time of fetal testing or after birth
GENETIC INHERITANCE

 Genes

 Chromosomes - 46 chromosomes

 alleles - two like genes

 phenotype - outward appearance or the

expression of genes

 genotype - actual gene composition

MENDELIAN INHERITANCE

GREGOR MENDEL
 an Austrian naturalist known as Mendelian laws
 concluded from his experiments that "hereditary units" transmitted
traits from one generation to the next.
 he developed his two well-known laws of inheritance:
 the law of segregation and
 the law of independent assortment