Final- Mn- Ch 3 And 8

Front 1

what is the role of nurses in genetic counseling?

Back 1

-some nurses play a key role in the identification of families in need of genetic counseling
-make referrals to specialists in genetics
-they can construct family pedigrees of 3 or more generations
-clarify the genetics info that family members receive during counseling sessions or the internet

Front 2

-the most important of all nursing functions is to provide what during all aspects of the counseling process (guilt and self blame are universal reactions)

Back 2

emotional support

Front 3

Homozygous vs Heterozygous

an individual having 2 copies of the same allele for a given trait

Back 3

Homozygous

Front 4

Homozygous vs Heterozygous

an individual with 2 different alleles

Back 4

Heterozygous

Front 5

dominant vs recessive

it is expressed or phenotypically apparent when only 1 copy of an allele associated with the trait is present

Back 5

dominant

Front 6

dominant vs recessive

expressed only when 2 copies of the alleles associated with the trait are present

Back 6

recessive

Front 7

heterozygous or homozygous

____________individuals have only 1 variant allele and are unaffected clinically because their normal gene overshadows the variant allele.

Back 7

heterozygous

Front 8

-heterozygous individuals have only 1 variant allele and are unaffected clinically because their normal gene overshadows the variant allele. they are also known as ________of the recessive trait.

Back 8

carriers

Front 9

Autosomal recessive inheritance disorders

–are those in which both genes of a pair are forms associated with

Back 9

the disorder to be expressed

Front 10

Autosomal recessive inheritance disorders

-for the trait to be expressed, __ carries must each contribute a variant allele to the offspring

Back 10

2

Front 11

Autosomal recessive inheritance disorders have a horizontal or verticle pattern of inheritence?

Back 11

a horizontal pattern of inheritance, rather than the vertical pattern seen with Autosomal dominant disorders

Front 12

Autosomal recessive inheritance disorders are usually observed in how many or more siblings?

Back 12

1 or more siblings

Front 13

-most recessive disorders tend to have severe clinical manifestations and what else?

Back 13

affected offspring may not reproduce

Front 14

-what are examples of of Autosomal recessive inherited disorders

Back 14

PKU, galactosemia, Tay-sachs disease, sickle cell anemia

Front 15

Interpretation of risk

-guiding principle for genetic counsels is the principle of nondirectiveness, which states what?

Back 15

the individual who is providing genetic counseling respects the right of the individual or family being counseled to make autonomous decisions

Front 16

Interpretation of risk

-nurses avoid making recommendations
-try to communicate genetic information in an unbiased manner

what is the -first step in providing nondirective counseling?

Back 16

becoming aware of ones own values and beliefs and then realizing how ones values and beliefs can influence or interfere with the communication of genetic information

Front 17

Interpretation of risk

-they should be given the facts and possible consequences, as well as all of the assistance they need in problem solving but the final decision regarding a course of action must be

Back 17

their own

Front 18

Estimation of Risk

-if a couple has not yet had children, but they are known to be at risk for having children with a genetic disease, they will be given an ________ risk

Back 18

occurrence

Front 19

Estimation of Risk

-once the mating of a couple has produced one or more children with a genetic disease, the couple will be given a _________risk

Back 19

recurrence

Front 20

Estimation of Risk

-in an Autosomal dominant disorder, both the occurrence and recurrence risk is 50% when

Back 20

1 parent is affected and the other is not

Front 21

Estimation of Risk

-the recurrence risk for Autosomal recessive disorders is what if both parents are carriers (they each have one recessive disease gene and one normal gene)

Back 21

25%

Front 22

an empiric risk is based not on what??

Back 22

not on genetic theory but rather on experience and observation of the disorder in other families

Front 23

-an important concept to be emphasized to individuals and families during a genetic counseling session is that

Back 23

“each pregnancy is an independent event”


- for ex: in monogenic disorders in which the risk remains the same no matter how many affected children are already in the family

Front 24

STIs
-which 4 are bacteria?

Back 24

-chlamydia
-gonorrhea
-syphilis
-step B streptococcus

Front 25

STIs

-what are some examples of virus (6)

Back 25

-HIV
-HPV(human papillomavirus)
-herpes simplex 1 and 2

-cytomegalovirus
-viral hepatitis A
-viral hepatitis B

Front 26

Homozygous vs Heterozygous

BB

Back 26

Homozygous

Front 27

Homozygous vs Heterozygous

individual having 2 copies of same gene for a given trait

Back 27

Homozygous

Front 28

Homozygous vs Heterozygous

Individual having 2 copies of different genes

Back 28

Heterozygous

Front 29

Homozygous vs Heterozygous

Bb

Back 29

Heterozygous

Front 30

Dominant vs Recessive

-phenotypically apparent with only one gene

Back 30

Dominant

Front 31

Dominant vs Recessive

-expressed only when 2 copies of gene are present

Back 31

Recessive

Front 32

Abnormalities of chromosome number
-most common?

Back 32

down syndrome / trisomny 21

Front 33

Autosomal recessive inheritance For trait to be expressed what must happen

Back 33

both parents must contribute (carrier)

Front 34

what is the most cost-effective piece of genetic information?

Back 34

family history

Front 35

what is the most common and fastest spreading STI in American women

Back 35

Chlamydia

Front 36

-infections are often silent and highly destructive

Back 36

Chlamydia

-symptoms are nonspecific and the organisms is expensive to culture

Front 37

-if untreated, infections often leads to pelvic inflammatory disease

Back 37

Chlamydia

Front 38

infection in the cervix can cause an increase risk for acquiring HIV

Back 38

Chlamydia

Front 39

-more than half of infants born to mothers with ________will develop conjunctivitis or pneumonia after perinatal exposure to the mothers’ infected cervix

Back 39

Chlamydia

Front 40

-oldest communicable disease in the US

Back 40

Gonorrhea

Front 41

-transmitted by sexual contact (mostly genital to genital, but can be oral to genital or anal to genital)

Back 41

Gonorrhea

Front 42

-in females, it may spread from vagina to rectum

Back 42

Gonorrhea

Front 43

-can be transmitted to the newborn in the form of ophthalmia neonatorum during birth by direct contact with conococcal organisms in the cervix

Back 43

Gonorrhea

Front 44

-age is the most important risk factor (young sexual active teenagers, young adults, African Americans)

Back 44

Gonorrhea

Front 45

-women are often asymptomatic but women may have a purulent discharge but discharge is usually minimal or absent

Back 45

Gonorrhea

Front 46

-menstrual irregularities may be the presenting symptoms or women may complain of pelvic pain, abdominal pain, or longer and more painful menses

Back 46

Gonorrhea

Front 47

-rectal itching, fullness, pressure, pain, diarrhea are common symptoms

Back 47

Gonorrhea

Front 48

-perinatal complications include premature rupture of membranes, preterm birth, chorioamnionitis, neonatal sepsis, intrauterine growth restriction, and maternal postpartum sepsis

Back 48

Gonorrhea

Front 49

-ophthalmia neonatorum is the most common manifestation of neonatal infections and is highly contagious, if untreated may lead to blindness in the newborn

Back 49

Gonorrhea

Front 50

-also known as genital warts

Back 50

Human Papillomavirus (HPV)

Front 51

-most commonly seen viral STI

Back 51

Human Papillomavirus (HPV)

-HPV infection can be acquired by the neonate during birth

Front 52

lesions are commonly found in the posterior part of the introitus, buttocks, vulva, vagina, anus, and cervix

Back 52

Human Papillomavirus (HPV)

Front 53

-infections of long duration may appear as a cauliflower like mass
-lesions are usually painless, but uncomfortable

Back 53

Human Papillomavirus (HPV)

-lesions may become so large during pregnancy that they affect urination, defecation, mobility, fetal descent (cesarean births may be performed when extensive growths are present but are rarely necessary and is not recommended even to prevent transmission of HPV infection to newborns)

Front 54

-infections are thought to be more frequent in pregnant than nonpregnant women

Back 54

Human Papillomavirus (HPV)

Front 55

-infection results in painful recurrent genital ulcers and is caused by 2 different antigen substypes of herpes simplex virus (herpes simplex virus 1 and herpes simplex virus 2)

Back 55

Herpes Simplex Virus (HSV)

Front 56

-HSV-2 is usually transmitted

Back 56

sexually

Front 57

-HSV-1 is transmitted

Back 57

nonsexually

Front 58

-an initial HSV genital infection is characterized by multiple painful lesions, fever, chills, malaise and severe dysuria and may last how long

Back 58

2-3 weeks


-women with HSV recurrent infections commonly have only local symptoms that are usually less severe than those associated with the initial infection

Front 59

-primary infections od Herpes Simplex Virus (HSV) during the first trimester have been associated with

Back 59

increased miscarriage rates

Front 60

-most severe complication of HSV infection is

Back 60

neonatal herpes

Front 61

-there is an association between cervical cancer and ?????

Back 61

HSV-2

Front 62

-acquired primarily through a fecal-oral route by ingestion of contaminated food, (esp milk, shellfish, polluted water, or person to person contact)

-can be transmitted during sexual activity

Back 62

Hepatitis A (HAV)

Front 63

-characterized by flulike symptoms with malaise, fatigue, anorexia, nausea, pruritus, fever, RUQ pain

Back 63

Hepatitis A (HAV)

Front 64

-serologic testing to detect IgM antibody is done to confirm acute infections

Back 64

Hepatitis A (HAV)

Front 65

-the IgM antibody is detectable 5-10 days after exposure and can remain positive for up to 6 months
-treatment is usually supportive

Back 65

Hepatitis A (HAV)

Front 66

-most threatening to the fetus and neonate

Back 66

Hep B

Front 67

-associated with 3 antigens and their antibodies

Back 67

Hepatitis B (HBV)

Front 68

-infection is a disease of the liver and is often a silent infection

Back 68

Hepatitis B (HBV)

Front 69

-symptoms of HBV are similar to hepatitis A: arthralgias, arthritis, lassitude, anorexia, nausea, vomiting, h/a, fever, milk abdominal pain

-later the women may have clay colored stools, dark urine, increased abdominal pain, and jaundice

Back 69

Hepatitis B (HBV)

Front 70

-most common bloodborne infection in the US

Back 70

Hepatitis C (HCV)

Front 71

Hepatitis C (HCV)

-the most common risk factor for pregnant women is:

Back 71

a history of injecting intravenous drugs

-other risk factors include STIs such as Hep B and HIV, multiple sex partners, history of blood transfusion

Front 72

-most clients with ______ are asymptomatic or have general flulike symptoms

Back 72

Hepatitis C (HCV)

Front 73

-no vaccine available

Back 73

Hepatitis C (HCV)

Front 74

-most common type of vaginitis

Back 74

Bacterial Vaginosis (BV)

Front 75

-normal acidic pH of the vagina is altered

Back 75

Bacterial Vaginosis (BV)

Front 76

Bacterial Vaginosis (BV) is associated with what 2 pregnancy outcomes

Back 76

-associated with preterm labor and birth

Front 77

-may be considered normal vaginal flora in a women who is not pregnant

Back 77

GBS (Group B Streptococcus)

Front 78

-associated with neonatal morbidity and mortality usually from transmission from the birth canal of the infected mother to the infant during birth

Back 78

GBS (Group B Streptococcus)

Front 79

-risk factors for neonatal GBS infection include: positive prenatal culture for GBS in the current pregnancy, preterm birth of less than 37 wks of gestation, premature rupture of membranes for 18 hrs or more, intrapartum maternal fever higher than 38 degrees Celsius and a positive history for early onset neonatal GBS

Back 79

GBS (Group B Streptococcus)

Front 80

-to decrease the risk of neonatal GBS infection, it is recommended that all women be screened at 36 to37 weeks of gestation for GBS receive

Back 80

an IV antibiotic prophylaxis during labor


GBS (Group B Streptococcus)

Front 81

-generally, all TORCH infections produce what kind of symptoms

Back 81

-generally, all TORCH infections produce flu like symptoms in the mother, but fetal and neonatal effects are more serious

Front 82

TORCH
-symptoms resulting from the infections are more serious in the neonate or the mom?

Back 82

fetal/neonatal

Front 83

What does
T
O
R
C
H


stand for?

Back 83

-toxoplasmosis
-other infections (hepatitis,GBS, varicella, HIV)
-rubella
-cytomegalovirus
-herpes simplex virus

Front 84

often silent infections and destructive to the woman's reproductive tract –damage to fallopian tubes

Back 84

Chlamydia trachomatis

Front 85

Most common and fastest spreading STI

Back 85

Chlamydia trachomatis

Front 86

Chlamydia trachomatis ->50% Infants of positive mother will develop (2)

Back 86

conjunctivitis or pneumonia

Front 87

Ophthalmia neonatorum (eye infections. This is why we put vitamin K in)

Back 87

Gonorrhea

Front 88

Perinatal complications of gonococcal infection include:

Back 88

-Premature rupture of membranes
-Preterm birth
-Chorioamnionitis
-Neonatal sepsis – baby is severely infected and very sick
-Intrauterine growth restriction (IUGR)
-Maternal postpartum sepsis

Front 89

Initial infection characterized by multiple painful lesions, fever, chills, malaise, and severe dysuria
-doesn’t go away, a lot of people take antiviral’s in pregnancy. even if you have a c section, the baby is still exposed

Back 89

Herpes simplex virus (HSV)

Front 90

Maternal infection with HSV-2 can have adverse effects on both mother and fetus
If early in pregnancy and she is infected, risk for (2) or ___________if infection is later in pregnancy baby will most likely be born with it

Back 90

congenital anomalies or Miscarriage



congenital infection

Front 91

what is the most severe complication of HSV

Back 91

Neonatal herpes

Front 92

what is the most effective means of preventing HAV transmission

Back 92

Vaccination

Front 93

Syndrome in which normal H2O2-producing lactobacilli are replaced with high concentrations of anaerobic bacteria

Back 93

Bacterial vaginosis (BV

Front 94

not a vaginal infection. It is normal flora but it can cause GBS infection in the neonate. If the baby passes through and gets that in it’s lungs the baby can have a GBS infection. In labor they are treated with antibiotics so the baby can come through safely

Back 94

Group B streptococcus

Front 95

Associated with poor pregnancy outcomes
Important factor in neonatal morbidity and mortality
Screening at 36-37 weeks of gestation (vaginal rectal culture) decreases risk

Back 95

Group B streptococcus

Front 96

-once a women is + she will always be +. If she is treated during labor, it can come back in 5-6 weeks.

Back 96

Group B streptococcus

Front 97

Form group of infections capable of crossing the placenta and adversely affecting the fetus

Back 97

TORCH

Front 98

Toxoplasmosis what is the definitive host

Back 98

(cat – women should not scoop liter pans)

Front 99

Cytomegalovirus
can cause what?

Back 99

Microcephaly, eye, ear and dental defects, mental retardation