Chapter 5

Genetics
o Genetics issues occur before, during, and after pregnancy
o Standard practice to assess all pregnant women for heritable disorders
o Most useful means of reducing incidence of genetic disorders is by preventing their
transmissions
o Genetic disease affects people of all ages, socioeconomic levels, and racial and ethnic
backgrounds
o Genetic disease affects individuals, families, communities, and society
o Advances in genetic testing and genetically based treatments have altered care
o Improvements in diagnostic capability have resulted in earlier diagnosis and enabled
individuals who previously would have died in childhood to survive into adulthood
o Some disorders appear more often within ethnic groups
Tay Sachs
Thalassemias- African American, Asian, Mediterranean
Phenylketonuria (PKU)
Cystic fibrosis- genetic

Genetics and Nursing

o Genomics
Addresses the functions and interactions of all genes in an organism
Study of entire DNA structure
o Genetic history-taking
o Genetic counseling services
o Estimation of risk
o Interpretation of risk
o Ethical considerations
The Human Genome Project
o Genetic testing
Chromosomes
Direct or molecular testing
Linkage analysis
Biochemical testing
Cytogenetic testing
Prenatal tests
Maternal serum screening*
For chromosomal abnormalities
Alpha feta protein
Carrier screening tests
Not diagnostic
Predictive testing
Presymptomatic testing
Predispositional testing
Population based screening
o Pharmacogenomics
o Gene therapy (gene transfer)
o Ethical, legal, and social implications (ELSIs)
Privacy and fairness in use and interpretation of genetic information
Clinical integration of new genetics technologies
Issues surrounding genetics research such as possible discrimination and
stigmatization

Genetics, Conception, and Fetal Development

ELSIs
Education for professionals and general public about genetics, genetic health care,
and ELSIs of human genome research
ELSI of human genome research
o Factors influencing decision to undergo genetic testing
o Excellent websites available to the public
Clinical Genetics
GenotypePhenotypeo Genetic transmission
Science of genetics seeks to explain the underlying causes of congenital disorders
(disorders present at birth)
o Genes and chromosomes
DNA forms threadlike strands known as chromosomes
o Chromosome abnormalities
A major cause of reproductive loss, congenital problems, and gynecologic disorders
Sex chromosome abnormalities
Turner syndrome (monosomy X)
Klinefelter syndrome (trisomy XXY)
Not teratogenic
Autosome abnormalities
Abnormalities of chromosome number
o Down syndrome (trisomy 21)
Abnormalities of chromosome structure
o Translocation
o Deletions
o Inversions
Patterns of Genetic Transmission
o Multifactorial
Most common genetic malfunction
Combination of environmental and genetic factors
Cleft lip and palate
Neural tube defects
Pyloric stenosis
o Unifactorial
A single gene controlling a trait, disorder, or defect
Also known as unifactorial mendelian or single-gene inheritance
Autosomal-dominant inheritance
Autosomal-recessive disorder
o Cystic fibrosis
Inborn errors of metabolism
X-linked dominant inheritance
X-linked recessive inheritance
Nongenetic Factors
Nongenetic factors influencing development
o Not all congenital disorders are inherited
o Congenital: condition present at birth
o Some congenital malformations are caused by teratogens:
Environmental substances or exposures that result in functional or structural
disability
o Adequacy of maternal nutrition
o

Behavioral Genetics
o Seeks to understand genetic and environmental influences on variations in human behavior
Analysis of families and populations
Estimates the amount of variations
Political and social implications
Intelligence, criminality, homosexuality
Conception
o Cell division
Mitosis
Meiosis
o Gametogenesis
Spermatogenesis
Oogenesis
o Conception
Ovum
Sperm
o Fertilization (fallopian tubes)
Morula
Blastocyst
o Implantation (uterine lining)
Between day 6-10 of the menstrual cycle
Chorionic villi grow
Decidua basalis forms (placenta)
The Embryo and Fetus
o Primary germ layers
Ectoderm
Mesoderm
Endoderm
o Development of the embryo (15-60 days)
o Membranes (placenta)
Chorion
Amnion and amniotic cavity
o Amniotic fluid
Very important
Oral fluid, waste method for embryo/fetus

o Yolk sac
o Umbilical cord
3 vessels. 2 arteries 1 vein
Helix shape
o Placenta
Structure
Functions
Metabolic exchange
Produces its own hormones
o HCG
Fetal maturation
o Viability Capability of fetus to survive outside uterus
Limitations based on central nervous system function and oxygenation capability of
lungs
o Respiratory system

Fetal lung maturity

Primary surfactants
Preterm at high risk for respiratory issues
Lung lining not mature
o Fetal circulatory system
3 shunts in circulatory system
Foramen ovale
o PFO
Ductus arteriosus
Ductus venosus
o Hematopoietic system
o Hepatic system
o Gastrointestinal system
Meconium present in fetal intestines
Only expelled with distress- not normal
o Renal system
o Neurologic system
Sensory awareness
24 weeks- baby can hear
o Fetal maturation
Endocrine system
Reproductive system
Musculoskeletal system
Integumentary system
Immunologic system
Multifetal pregnancy
o Twins
Dizygotic twins
Monozygotic twins
o Other multifetal pregnancies

Key Points
Genetic disease affects people of socioeconomic levels and racial and ethnic backgrounds
Genetic disorders span every clinical specialty
Nurses with advanced preparation are assuming roles in genetic counseling
Key Points contd
Genes are basic units of heredity responsible for human characteristics
23 pairs of chromosomes: 22 pairs of autosomes and one pair of sex chromosomes
Multifactorial inheritance includes both genetic and environmental contributions
Gestation: 280 days after the LMP or 266 days after conception
Key Points contd
Fertilization occurs in uterine tube within 24 hours of ovulation
Zygote undergoes mitotic divisions, creating a 16-cell morula
Critical periods in human development during which embryo/fetus is vulnerable to
environmental teratogens