1. Alicia Stone, PhD, RN, FNP Associate Professor Molloy College
Genetics
Alicia Stone, PhD, RN, FNP
Associate Professor
Molloy College

2. Genetics
Provides the tools to determine the hereditary component of many diseases
Improves our ability to predict susceptibility, onset, progression, and response to treatment
A gradual shift from genetics ( single gene effect) to genomics ( functions and interactions of all genes

3. Genetics/Genomics The study of the patterns of inheritance
Advanced by the human genome project
Chromosomes stores genetic information in DNA
Karyotype is a pictoral anaylsis

4. Genetics—cont’d
Improvements in diagnostic capability have resulted in earlier diagnosis and enabled individuals who previously would have died in childhood to survive into adulthood
Some disorders appear more often within ethnic groups
Tay Sachs
Sickle Cell disease
Thalassemias
Phenylketonuria (PKU)
Cystic fibrosis

5. Relevance of Genetics to Nursing
Genetics-related nursing activities (new roles)
Collecting, reporting, and recording genetics information
Prenatal screening and testing
Offering genetics information and resources to clients and families
Participating in informed consent process and facilitating informed decision making
Care of families who have had or lost a child to a genetic condition

6. Relevance of Genetics to Nursing
Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics
Constructs pedigree from collected family history information
Develops plan of care that incorporates genetics assessment
Identifies genetic information, resources, and services specific to given patients
Identifies ethical, cultural, legal, and fiscal issues related to genomics
Facilitates referrals for specialized services

7. Genetic Counseling
Provides information on the occurrence or risk of reoccurrence of a genetic disorder using family history and genetic testing
Purpose of genetic counseling:
Educate individuals or families
Provide accurate information
Informed decision making (non directive)
Appropriate care for affected family members
Is required before prenatal diagnosis

8. Nursing Care Identify families for referral
Help couples decide about genetic counseling
Explain the purposes of all screening and diagnostic tests with accurate information about risks/benefits; answer questions
Teach about lifestyle
Provide emotional support
Help woman/family cope with abnormal results
Recognize cultural/religious/ethical issues

9. Genetic testing Carrier testing Chromosome analysis DNA analysis
Karyotype
Biochemical and other testing
Sickle cell trait

10. Prenatal Diagnostic test
Genetic ultrasound
Genetic amniocentesis-amniotic fluid, cells
Over 35, previous child or parent has chromosomal abnormality
Conditions identified in utero
History of neural tube defects
Chorionic Villus Sampling
Maternal serum testing

11. Congenital Malformations
inherited–abnormal chromosomes or trait
exposure to a teratogen
Drugs
Chemicals
Radiation
Nutritional deficits
Infections - TORCH

12. Genetics – Chromosomal abnormalities
Numeric Abnormalities
Trisomes , monosomies and polyploidly
Structural Abnormalities
Piece missing or added , rearranged

13. Genetics: Inherited Disorders
Unifactorial -A single gene controlling a trait, disorder, or defect
Autosomal dominant –Marfan syndrome
gene from one parent
Autosomal Recessive -SSD
gene from each parent
Inborn errors of metabolism
sex-linked disorders

14. Fig. 8-3. Possible offspring in three types of matings
Fig Possible offspring in three types of matings. A, Homozygous-dominant parent and homozygous-recessive parent. Children: all heterozygous, displaying dominant trait. B, Heterozygous parent and homozygous-recessive parent. Children: 50% heterozygous, displaying dominant trait; 50% homozygous, displaying recessive trait. C, Both parents heterozygous. Children: 25% homozygous, displaying dominant trait; 25% homozygous, displaying recessive trait; 50% heterozygous, displaying dominant trait.

15. Genetics: Inherited Disorders
Multifactorial -Combination of environmental and genetic factors
Most common genetic malfunction
Cleft lip and palate
Neural tube defects
Congenital heart disease
Pyloric stenosis

16. Placenta
Fetal side
Maternal side

17. Placenta

18. Hormones Human chorionic gonadotropin hCG
Present by day 8-10 to maximal level usually by day 70 then decreases
Maintains the corpus luteum
Causes positive pregnancy test
Human Placental Lactogen hPL or chorionic somatomammotropin
Promotes glucose transport to fetus
Stimulates breast development
Relaxin -increases pelvic flexiblity

19. Hormones
Estrogen
Promotes uterine growth and uteroplacental blood flow
Promotes breast development (glands)
Stimulates uterine contractility
Progesterone
Maintains endometrium
Promotes breast development (aveoli)
Decreases uterine contractility