Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

MCN568 > GENETICS SG > Flashcards

GENETICS SG Flashcards

study guide questions (53 cards)

Start Studying
1
Q

what are high-risk HR pregnancies?

A
  1. Corrected & non-corrected heart dx
  2. Cystic fibrosis
  3. Severe DM
  4. Severe asthmatics
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

who can become HR pregnancy?

A
  • PTL/PROM * trauma related injuries, DIC
  • pneumonia * placenta abnormalities
  • PE/E, HELLP * multiple gestation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Cardiac Disease in pregnancy

A
  • Rheumatic fever: (@50%, but now requiring 2* antibiotics
  • mitral valve prolapse (very common)
  • congenital heart defects - corrected & non-corrected T of F
  • cardiomyopathies - many are pregnancy-induced
  • dysrhythmias
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

how pregnancy influences cardiac system?

A

increase CO (40-50%) with peak @ 32-34 wks - then further increase during labor (may be as high as 10L during labor)

45% increase in bld vol - also helps at time of delivery as protective mechanism

hormonal influence –> vasodilation, increased peripheral resisitance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

what are the classification in cardiac disease?

A

Class I: asymptomatic
Class II: symptomatic with increased activity
Class III: symptomatic with ordinary activity
Class IV: symptomatic at rest

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

chronic cardiac disease maternal effects?

A 
increases oxygenation
loss of function
pulmonary edema
dissecting aneurism
pulmonary hypertension
cardiac failure
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

what is the biggest cardiac risk during labor? for MOB with cardiac disease

A

pulmonary edema

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

chronic cardiac disease and fetal effects?

A 
Fetal hypoxia
FGR
Fetal distress
Mental retardation
increase risk of cardiac anomaly (50%)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

diabetes in pregnancy causes what maternal effects?

A

increased insulin production
increased peripheral resistance to insulin
increased antagonistic effect from hormones
“Diabetogenic State”

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

how GDM develops?

A

pancreatic B-cell fnc is impaired in response to increased stimulation & induced insulin resistance in pregnancy; 24-28 weeks

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

DM and maternal effects?

A 
SAB/spontaneous abortion?
PE/Eclampsia
PTL
Polyhydraminos
Infection
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

maternal hyperglycemia effect on fetus?

A
  • congenital anomalies
  • macrosomia
  • delayed lung maturity: increased BS interferes with PG (phosphyatidylglycerol) production, therefore mature fetal lung surfactant may not be present until 38-39 wks
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

GDM effect on fetus?

A 
Anomalies & related sequalae
Birth trauma
Prematurity
Hypoglycemia
Hyperbilirubinemia
Learning Disabilities
Childhood obesity & Type II Diabetes
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

maternal thyroid disease

A

Thyroid hormones (T3 & T4) does not cross the placental barrier
Fetal thyroid synthesizes its own hormones (10 weeks)
Disease and drug therapy often have an adverse effect on pregnancy outcome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

maternal hyperthyroid effect on neonate

A

Observe neonates for s/s of thyroid dx. S/s may not appear for 5-10 days after birth.

Hyperthyroidism in neonates may resolve in 1-3 months.
if MOB has graves, baby might have graves
Neonatal grave’s: increased HR, FGR, goiter, CHF

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

UTI in pregnancy, effects of fetus

A 
FGR
Chronic hypoxia
Sepsis
CNS Damage
Fetal death
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

connective tissue disorder in pregnancy?

A

Rheumatoid arthritis
Multiple sclerosis
Scleroderma
Lupus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

prenatal infections?

A 
HIV, AIDS
Hepatitis
Pyelonephritis
Chorioamnionitis
STD’s
CMV
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

preeclampsia vs eclampsia?

A

PE: development of HTN & proteinuria or edema during pregnancy after the 20th week gestation in a previously normotensive, non-proteinuric woman
Eclampsia: PE with seizure activity

Incidence
5-7% of pregnant women
closer to 10-20% in our population 2* to risk factors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

risk factors for preeclampsia?

A

Primigravidas or 1st pregnancy with current partner
Teens or older gravida
Low socioeconomic & poor nutritional status
Previous history of PE
Familial history
Multiple gestation
Medical conditions: DM, CHTN, renal, lupus
RH incompatibility

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

preeclampsia maternal effects?

A 
2nd leading cause of maternal mortality
Vasospasms
uteroplacental insufficiency
kidney damage
cerebral & visual changes
Pulmonary & hemodynamic changes
Fluid & electrolyte shifts/imbalances
Seizures
HELLP (10-24% mortality)
DIC
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

preeclampsia fetal effects?

Study These Flashcards
A

Prematurity & related sequelae
FGR
Uteroplacental insufficiency
Effects of MgSO4

23
Q

what affect FHR/maternal?

Study These Flashcards
A
  • CHTN * smoking
  • DM * nutrition
  • ETOH
24
Q

what affects FHR/fetal?

Study These Flashcards
A
  • intact CNS
    • parasympathetic = “pokey”
    • sympathetic = “speedy”
    • chemorecpetors
    • baroreceptors
  • hormones
  • anomalies
  • FGR
25
what affects FHR/placental?
placental/cord anomalies | cord compression
26
what is baseline for FHR?
110-160
27
what are the functions of AF?
environment for fetal movement protects fetus against external injury maintain temperature prevents amnion from adhering to fetus
28
normal values of AF?
12 weeks: 50 cc 36-38 weeks: 1000 cc after 38 weeks: slight decrease in AFI
29
values for polyhydramnios?
Greater than 2000 cc of fluid (AFI > 20) | Fluid pocket > 8 cm
30
neonatal manifestation of polyhydramnios?
``` Tight, shiny abdomen Abdominal discomfort Dyspnea Orthopnea Edema of abdomen, vulva, legs Uterine enlargement (size > dates) Difficulty in outlining fetal parts and FHR ```
31
values for oligohydramnios?
Severely reduced amount of amniotic fluid AFI < 5.0 (< 500 cc of fluid) Fluid pocket < 2 cm
32
polyhydramnios fetal complications?
Prolapsed umbilical cord at ROM increased incidence of malpresentation increased perinatal mortality associated with fetal anomalies
33
neonatal implications for oligohydramnios?
``` Associated with renal anomalies Wrinkled, leathery skin Pulmonary hypoplasia increased skeletal deformities Fetal hypoxia Associated with postdate pregnancy 1 cm or less AFI associated with 40X  in perinatal mortality ```
34
test timing for fetal well-being?
US: 6 weeks to confirm pregnancy; anatomical 16-20 weeks Amniocentesis: 14-20 weeks, for lung maturity 35-36 weeks Chorionic Villus Sampling (CVS) 9.5 and 12.5 weeks Maternal blood sampling for fetal blood cells Maternal serum alpha-fetoprotein (MSAFP): 16 and 18 weeks Maternal serum beta-HCG: anytime Maternal serum estriol: third trimester
35
placental tests
functions: providing oxygen and gas exchange; transfer of macro- and micronutrients, vitamins, hormones, and antibodies; elimination of waste products; metabolism of glycogen, cholesterol, and fatty acids; and endocrine secretion of hormones that sustain pregnancy
36
high AFP
NTD, anencephaly, spina bifida, omphalocele and gastroschisis; 16-18 weeks; not 100% specific, always confirm with US; elevated AFP is wrong estimation of GA; helpful with trisomies
37
human genome project
Launched in 1990, international effort first to map and eventually sequence all of estimated 50,000-100,000 genes. Human genetic map produced in 1998 – showing chromosomal locations of markers from >30,000 human genes. Complete human genetic sequence published in 2003. Initiatives to establish genetic and environmental causes of common diseases launched in 2006.
38
HIPPA LAW
Prevents insurance companies from denying coverage based on genetic testing. Federal law – Genetic Information Nondiscrimination Act (GINA) in 2008 prevents US insurance companies and employers from discriminating based on information derived from genetic tests. Insurers/employers not permitted to request or demand genetic testing.
39
Noonan syndrome
generalized edema, low posterior hairline occurs with a short or webbed neck, Increased nuchal translucency
40
nondisjunction
the MOST FREQUENT CAUSE of all chromosome d/o; Occurs when paired chromosomes fail to separate during cell division
41
nondisjunction before fertilization
all cells have abnormal makeup | · Ex: Trisomy, Monosomy, Polyploidy
42
nondisjunction after ferilization
2 or more cell lines in same cell | · Ex: Mosaicism
43
duplication
extra copy of a gene or DNa sequence
44
Inversion
part of chromosome has moved from its location
45
translocation nonreciprocal
a piece of chromosome that has detached and attached to another chromosome
46
translocation reciprocal
exchange of parts between two chromosomes
47
x-linked dominant characteristics of transmission
Affected MALES transmit to ALL daughters and NONE of sons Affected FEMALES (heterozygous)transmit to HALF of their offspring (M or F) Affected FEMALES (homozygous) transmit the trait to ALL of their children Females are less likely to express the trait in a milder form
48
x-likned recessive transmission
Trait occurs almost exclusively in MALES Trait is NEVER transmitted directly from father to son Trait passed from affected MALE to ALL of his DAUGHTERS (Carrier) 50% of the CARRIER WOMEN’s SONS will be affected and 50% of her Daughters will be carriers
49
mitochondrial transmission
Result from insufficient energy production in critical tissues FEMALES pass on disorder (b/c mitochondria are in the egg); Risk is up to 100% FEMALE offspring of affected female will inherit some abnormal mitochondria- but may not manifest disease MALES have no risk of passing on to offspring Usually present with: visual loss, seizures, encephalopathy, progressive myopathy, diabetes
50
syndromes
Collection of anomalies involving more than one developmental region or organ system; or a pattern of multiple anomalies thought to be related · Chromosomal syndromes are the malformation syndromes usually dx in neonatal period o Ex: T21, T18, T13, 45X, DiGeorge, Beckwith-Wiedmann
51
sequences
a pattern of multiple anomalies derived from a single known or presumed structural defect or mechanical factor- followed by secondary events o Potter, Amniotic band, Arthrogryposis, Pierre Robin
52
associations:
nonrandom occurrence of multiple malformations; no etiology has been identified o VATER
53
homozygous vs heterozygous
Homozygous: You inherit the same version of the gene from each parent, so you have two matching genes. Heterozygous: You inherit a different version of a gene from each parent Someone is homozygous for the normal gene (has two normal copies) Someone is heterozygous (has one normal and one abnormal copy) Someone is homozygous for the abnormal gene (has two abnormal copies)

MCN568 (11 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions