Mod 3 ATI Notes

genes

A unit of heredity passed down from parent to child and used to determine some trait of the offspring.

anomaly

A deviation from the usual or standard.

chromosomes

A thread-like framework composed of nucleic acids and proteins present in the majority of living cells' nuclei and responsible for carrying genes, which carry genetic information.

autosomal

Refers to a chromosome type other than sex chromosomes.

genetics

The research into the heredity and uniqueness of inherited features.

aneuploidy

An imbalanced chromosomal complement caused by one or more extra or missing chromosomes.

mitosis

A cell division process that produces two daughter cells with the same number and type of chromosomes as the parent nucleus.

meiosis

Division of a cell into four daughter cells, each containing half as many chromosomes as the parent cell.

prenatal

Occurring prior to birth.

postnatal

Occurring after birth.

haploid

Refers to a single set of chromosomes being present.

trisomy

A syndrome in which there is an extra copy of a chromosome in the cell nucleus, resulting in developmental problems.

homologous

A pair of chromosomes having the same structure or pattern.

monosomy

A diploid chromosomal complement in which one (typically the X) chromosome is missing its homologous (corresponding) companion.

Which of the following clients have an increased risk of pregnancy with a fetus who has an aneuploidy?

A 20-year-old client who smokes

A 37-year-old client who has had no prior pregnancies

A client whose oldest child has a trisomy

Characteristics Commonly Observed in Down Syndrome

• Flat facial appearance, specifically the nose

• Eyes wide set with upward slant

• Shorter neck

• Smaller ears

• Protruding tongue

• Smaller hands and feet

• Single palmar crease

• Weak muscles due to poor tone

palmar crease

A line running across the palm of the hand.

When caring for a newborn who has Down syndrome, what characteristics or disorders place the newborn at risk for aspiration?

Protruding tongue

Hypotonia

Congenital heart defect

duplications

A kind of mutation in which a DNA segment, ranging in size from a few bases to a major chromosomal region, is produced in one or more copies.

ring chromosome

A circular structure that results from a chromosome's broken ends fusing together after it breaks in two.

isochromosomes

A structural anomaly in which the chromosome arms are mirror reflections of one other.

deletions

A kind of mutation in which a DNA segment loses one or more nucleotides.

translocation

Happens when a chromosome splits and the two broken pieces reattach to separate chromosomes.​​​​​​​

inversions

Occur when a segment splits off and rejoins the same chromosome in the opposite direction.

short arms of the chromosome

p arms

long arms of the chromosome

q arms

DNA-containing end sections that protect the chromosome during replication

Telomeres

Structure that holds the arms together and determines the chromosomes space

Centromere

amenorrhea

The lack of a menstrual period in a female client who is of reproductive age.

Characteristics Commonly Observed in Clients Who Have Turner Syndrome

• Short stature

• Wide chest

• Low hair line

• Early loss of ovarian function

• Lymphedema

• Amenorrhea

• Structural kidney defects

• Structural heart defects

Characteristics Commonly Observed in Clients Who Have Klinefelter Syndrome

• Increased height

• Long extremities

• Female hair distribution

• Small testes

• Infertility

• Delayed puberty

• Developmental delay

• Increased risk for breast cancer

Characteristics Commonly Observed in Clients Who Have Triple X Syndrome

• Increased height

• Potential learning disability

• Delayed speech and language skills

• Weak muscle tone

• Behavioral and emotional difficulties

• Seizures

• Kidney abnormalities

Characteristics Commonly Observed in Clients Who Have XYY Syndrome

• Increased height

• Potential learning disabilities

• Delayed speech and language skills

• Weak muscle tone

• Hand tremors

• Asthma

• Seizures

• Scoliosis

• Behavioral and emotional difficulties

XXY syndrome defining characteristics

Behavioral and emotional issues

Klinefelter syndrome defining characteristics

Tall stature and small testicles

Triple X syndrome defining characteristics

Tall stature and kidney defects

Turner syndrome defining characteristics

short stature and infertility

polygenic

Influenced by more than one gene.

The nurse is teaching a new parent about phenylketonuria (PKU). Which of the following statements by the parent indicates teaching has been effective?

“My baby will be on a special diet.”

Dominant disorders

• fragile X

• Huntingtons

• Marfans

Recessive disorders

• cystic fibrosis

• hemophilia

• sickle cell

genomics

The study of the structure, function, evolution, and mapping of genomes. It is a subfield of molecular biology.

carcinogen

Cancer-causing substance.

A client presents to the clinic requesting genetic testing to find out if they will ever have cancer. Which of the following is the most appropriate response by the nurse?

“Although cancer is not inheritable, some risk factors for cancer are genetic. I am happy to discuss testing with you.”

carrier

An individual who does not exhibit manifestations of an autosomal recessive or sex-linked disease (or trait) but who "carries" and is able to pass on to their progeny a genomic variant (allele) linked to that disease (or trait).

preconception

Prior to becoming pregnant.

targeted carrier screening

Screening for diseases based on ethnicity or family history.

expanded carrier screening

A single sample is used to screen for numerous disorders without race or ethnicity as a factor.

What are the advantages of genetic screening prior to pregnancy?

Preparing clients for possible pregnancy outcomes

Allowing couples to make decisions regarding pregnancy

Identifying at-risk pregnancies early

Identifying carrier types to discuss with clients prior to pregnancy

Which of the following clients would be considered at increased risk for a pregnancy complicated by genetic anomalies?

A 29-year-old client whose oldest child has cystic fibrosis

A 41-year-old client who is pregnant for the third time but has no living children

A 30-year-old pregnant client who has Huntington’s disease

A nurse cares for a pregnant client who is undergoing CVS testing. Which of the following risks are related with this test?

Fetal hemolytic disease

Bleeding

Infection

Spontaneous abortion

Based on the use of cell-free fetal DNA testing, which of the following conditions should the nurse be prepared to provide information about?

Trisomy 21

Trisomy 13

Trisomy 18

teratogenicity

Any substance that, after fetal exposure during pregnancy, results in an anomaly.

spina bifida

A disorder that occurs along the spine if the neural tube does not fully close.

Cell free fetal DNA

• Serum blood test

• Preformed between 10 wks and delivery

• Screen for conditions arising from chromosomes

Chorionic villus sampling

• Placental biopsy

• Between 10-13wks

• Genetic testing

Nuchal translucency

• Ultrasound

• Between 11-13 wks

• Measure fetal neck for detection of genetic anomalies

Quad screen

• Serum blood test

• Performed between 15-22 wks

• Calculates four chemicals to screen for trisomy 18, trisomy 21, neural tube defects

Alpha-fetoprotein

• Serum blood test

• Between 14-22 wks

• Combined with clients age and ethnicity

• can screen for neural tube defects, trisomy 18, trisomy 21

Anatomy scan

• Ultrasound

• Between 18-22 wks

• identify structural anomalies of the fetal spine, face, heart, abdomen, and limbs

Amniocentesis

• amniotic fluid test

• Confirm or rule out various genetic anomalies

First trimester diagnostics

• nuchal translucency testing

• chorionic villus sampling

• cell free DNA

Second trimester diagnostics

• quad screen

• anatomy ultrasound

• amniocentesis

A nurse is educating a new parent on the newborn screening tests the hospital will be performing. The parent states, “We do not want to test for any genetic diseases. No one in our family has ever had a problem, so it is not necessary.” Which of the following responses should the nurse make?

“Early detection and treatment are key to preventing more significant health problems.”

“Most newborn screenings are negative.”

“Health disorders found through newborn screening are often treatable.”

A nurse is educating parents on newborn screening. Which of the following statements indicates the parents understand the teaching?

“Our baby will have blood taken from the heel to see if they might have a disease.”

consanguinity

The sharing of common ancestry with another individual.

pedigree

A representation of an individual’s known ancestors and their biological traits.

A clinic nurse is performing a health history on a newly pregnant client. Which of the following questions should the nurse include when identifying the risk for pregnancy complications related to genetic anomalies? 

“Has anyone in your immediate family been born with a birth defect?”

“Do you or your reproductive partner have any children with conditions that were present at birth?”

“Are you taking prenatal vitamins with folic acid daily?”

“Have you taken any medications since you became pregnant?”

During Mike and Sarah’s 12-week prenatal visit, what genetic testing could have been offered and performed?

Nuchal translucency

Cell-free fetal DNA

Chorionic villus sampling (CVS)

How might pregnancy complications resulting from genetic anomalies affect the family?

Risk of pregnancy loss

Financial concerns

Emotional distress

When providing genetic testing education, instructions, and results, the nurse should maintain and implement which of the following considerations?

Use honest, straightforward communication.

Report all results to the client.

Maintain a nonjudgmental attitude regardless of the client’s decision.

An obstetrics and gynecology clinic nurse is preparing a 36-year-old client for an annual wellness exam. The client expressed interest in getting pregnant and asked the nurse about visiting a genetic counselor. Which of the following client factors should the nurse include as indications for genetic counseling?

History of pregnancy loss

Requiring reproductive assistance

Having given birth to a child who has a genetic disorder

Working around hazardous chemicals