Week 5 Chapter 49

Question 1

Study of genes. Genetic variation and heredity.

Answer 1

Genetics

Question 2

Caused by completely or partially altered genetic material

Answer 2

Genetic Disorder

Question 3

More common in relatives of the affected individual but may be caused by environmental influences not genetic alterations

Answer 3

Familial Disorder

Question 4

The nurse is in an ideal position to help families to review what has been discussed during genetic counseling session, to answer additional questions they might have, and to provide emotional support for the family during this time

Answer 4

True

Question 5

Advantages of Genetic Counseling

Answer 5

Provides relevant information to families about specific disorders

Personalized information to tailored individual

Review the results of genetic testing to confirm, diagnose, or rule out genetic abnormalities

Identify medical management issues and support families in identifying local resources

Provide resources and education to other healthcare providers and general public

Prenatal testing allows families opportunity to prepare for special needs of unborn child and consider options for future pregnancies

Question 6

Significant Findings in Medical History of a Child with a Genetic Disorder

Answer 6

Maternal Age more than 35 years or paternal age more than 50 years of age

Repeated premature births, breech delivery

Congenital Hip Dysplasia

Abnormalities found on ultrasounds in prenatal blood screening tests

Amniotic Fluid abnormalities

Multiple Births

Exposure to Medications and known teratogens

Decreased Fetal Movement

Question 7

Many children with chromosomal abnormalities have what?

Answer 7

Intellectual disability, learning disabilities, behavioral problems, and distinct features, including birth defects.

Variety of medications to treat, but no cure

Question 8

Common Disorders Influenced By Birth Defects

Answer 8

Birth Defects
Chromosomal Abnormalities
Neurocutaneous Disorders
Intellectual Disorders
Short Stature Disorders
Connective Tissue Disorders
Inborn errors of metabolism

Question 9

HPI includes

Answer 9

Developmental delay
Seizures
hypotonia or hypertonia
Feeding problems
Lethargy
Failure to thrive
Septic Appearance
Vomiting

Children known to have a genetic disorder are often admitted to the hospital for other health related issues or complications

Question 10

Examples of Major Congenital Anomalies

Answer 10

Cleft Lip/ Palate
Congenital Heart Disease
Neural Tube Defects
Chromosomal Abnormalities
Omphalocele/ Gastroschisis
Renal agenesis/ hypoplasia
Absent or limb deficiencies
Generalized dysmorphism
Ambiguous Genitalia

Question 11

Examples of Minor Congenital Anomalies

Answer 11

Flat or prominent occiput
Triple hair whorl
Flat bridged nose
Nostril anteverted
Ear Lobe crease
Ear lob notched
Cup shaped ears
Small ears
Cleft Uvula
Webbed Neck

Short Neck
Extra Nipples
Sacral Dimple
Tapered fingers
Overlapping Digits
Syndactyly
Hemangioma
Nevi

Question 12

Common genital malformations such as cleft palate, neural tube defects, pyloric stenosis, clubfoot, congenital hip dysplasia, and cardiac defects are attributed to multifactorial inheritance

Multiple gene and environmental factors

Answer 12

Common Congenital Malformations

Question 13

Amniotic Fluid Sampling

Answer 13

Amniocentesis

Question 14

Tissue Sampling

Answer 14

Chorionic Villi Sampling

Question 15

Triple/ Quadruple Screen

Answer 15

Maternal Serum Lab Test

Question 16

Fetal Nuchal Translucency

Answer 16

at 11-13 weeks

Question 17

Ultrasound

Answer 17

Fetal looking structural malformations

Question 18

Cell Free Fetal DNA Testing

Answer 18

Maternal Blood Sample

Question 19

Percutaneous Umbilical Blood Sampling

Answer 19

Umbilical Cord Sampling

Question 20

Fetoscopy

Answer 20

After 18 weeks scope placed into the uterus and can be used for corrective surgery on fetus

Question 21

Newborn Screening

Answer 21

Blood screening after birth

Question 22

Patterns of inheritance demonstrate how genetic abnormalities can be passed to the offspring

Answer 22

True

Question 23

Principles of inheritance of single gene disorders are the same that govern inheritance of other traits such as eye and hair color

Answer 23

Medlian or Monogenic Laws of Inheritance

Question 24

Patterns occur because single gene is defective and the disorders that result referred as monogenic

Answer 24

True

Question 25

If occurs on the autosome then it is

Answer 25

Autosomal

If X chromosome then it is X linked

Classified as dominant or recessive

Question 26

Monogenic Disorders include

Answer 26

Autosomal Dominant
Autosomal Recessive
X linked Dominant
X linked Recessive

Question 27

Offspring of a parent with an autosomal dominant genetic disorder will have a 50% chance of inheriting two normal genes (disorder free) and a 50% chance of inheriting one normal and one abnormal gene

Answer 27

True

Question 28

Autosomal Dominant Genetic Disorders

Answer 28

Neurofibromatosis
Huntington Disease
Achondroplasia
Marfan Syndrome
Osteogenesis Imperfecta Type 1

Question 29

Causes tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities

Due to a mutation of the neurofibromin gene on chromosome 17

No Cure

Answer 29

Neurofibromatosis

Question 30

Nursing Management is supportive and controlling symptoms

Answer 30

Neurofibromatosis

Question 31

Complications include:
Headache
Hydrocephalus
Scoliosis
Cardiac Defects
Vision and Hearing Loss
Higher risk for neoplasms