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MCN568 > GENETICS > Flashcards

GENETICS Flashcards

Fanaroff 10, 11,12,14,15,16 11 edition

1
Q

number of chromosomes in humans

A

23 pair of chromosomes

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2
Q

autosomes

A

identical chromosomes (22 pairs in both genders)

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3
Q

women homologous chromosomes

A

XX

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4
Q

men nonhomologous chromosomes

A

XY

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5
Q

linear DNA

A

histones (protein) form of chromatin

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6
Q

centromere

A

short arm (p arm) and long arm (q arm)

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7
Q

metacentric chromosome

A

arm length is equal

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8
Q

submetacentric chromosome

A

one arm is longer than the other

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9
Q

acrocentric

A

p arm is neglected (example: 13,14,15,21,22)

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10
Q

telomeres

A

the ends of each chromosome

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11
Q

karotype

A

analyze chromosomes

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12
Q

chromosome disorders

A

structural or numerical

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13
Q

advanced maternal age

A

35 or more at the expected date of confinement

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14
Q

numerical abnormalities

A

triploidy and tetraploidy; aneuploidy;

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15
Q

triploid

A

three sets of chromosomes (69 total); fertilization by two sperm; rarely born alive; poor survival

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16
Q

tertaploid

A

96 chromosomes, fetus miscarried in the first trimester

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17
Q

aneuploidy

A

any genotype in which total chromosome number is not a multiple of 23

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18
Q

monosomy

A

type of aneuploidy; only one representative of particular chromosome; not viable expect TURNER syndrome (monosomy X)

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19
Q

trisomy

A

type of aneuploidy; three copies of particular chromosome ; chromosomes 13, 18, 21, X, and Y compatible with life

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20
Q

structural abnormalities

A

chromosomal breakage followed by anomalous reconstruction; balance or unbalanced; deletions, insertions, ring chromosomes, isochromosomes, translocation

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21
Q

Robertsonian translocation

A

two acrocentric chromosomes lose their short arms and fuse near the centrometric region; phenotypically normal but have risk of producing unbalanced gametes involving chromosome 21 (downs)

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22
Q

single-gene disorders

A

4000 diseases; Mendelian inheritance; types: autosomal dominant disorders, autosomal recessive disorders, sex-linked disorders

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23
Q

alleles

A

variants of gene

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24
Q

autosomal dominant disorders

A

vertical pattern of transmission (phenotype in every generation); 50% risk; example: osteogenesis imperfecta;

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25
Q

advanced paternal age

A

40+, not clear;

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26
Q

autosomal recessive disorders

A

individual possessess two mutant alleles that were inherited from heterozygous parents; horizontal transmission (appears in more than one member of the family: sibllings); example: cystic fibrosis

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27
Q

consanguineous unions

A

mating between individuals who are second cousins or closer

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28
Q

sex-linked disorders

A

hemophilia A; X-linked recessive disorder; male disorder

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29
Q

Non-Mendelian patterns of inheritance

A

mitochondrial inheritance; epigenetics and uniparental disomy; trinucleotide repeat expansion

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30
Q

mitochondrial inheritance

A

maternal inheritance, replicative segregation, and heteroplasmy; examples: CNS or MS systems: MERRF, MELAS, NARP, LHON, MNGIE; dysfunction of high energy consuming organs like brain, muscle, heart, kidneys; poor growth, muscle weakness, loss of coordination, developmental delay;

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31
Q

epigenetics

A

modification of genes that determines whether a gene is expressed or not

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32
Q

imprinting

A

phenomenon in which genetic material is differently expressed depending on whether it was inherited from FOB or MOB

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33
Q

uniparental disomy

A

inheritance of a pair of homologous chromosomes from one parent (normally one chromosome is inherited from each parent); example: Prader-Willi syndrome; Angelman syndrome

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34
Q

trinucleotide repeat expansion

A

mutations occur and get passed on to next generation; ; examples: congenital myotonic dystrophy, Huntington disease, Friedreich ataxia, fragile X syndrome

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35
Q

Fragile X Syndrome

A

1 in 4000; at risk for adult onset cerebellar dysfunction; family and personal HX of delay or retardation or tremor should get screened for it

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36
Q

Multi-factorial Inheritance /Complex

A

genetics, environmental and gene-gene interactions; examples: neural tube defects(NTD): spina bifida and anencephaly;

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37
Q

Complex Inheritance: ANENCEPHALY

A

forebrain, meninges, bone and skin are absent; stillborn

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38
Q

CompleX Inheritance: NTD

A

incomplete fusion of vertebral arches; lack of folic acid,

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39
Q

Teratogens

A

medications, maternal conditions, infections

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40
Q

all or non period

A

first two weeks after conception; lethal or no adverse effect

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41
Q

diagnostic imaging

A

ionizing radiation; ; dental xray ok(less than 5 rad); exposure more than 10 rad increase rick for malformations; iodinated contrast: might effect fetal thyroid); MRI not contradicted; US not contradicted

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42
Q

congenital abnormalities occur in

A

3-4% live births

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43
Q

congenital abnormalities categories

A

malformation, deformation, disruption

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44
Q

malformation

A

intrinsic abnormalities in the genetic programs controlling development;

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45
Q

deformation

A

extrinsic factors physically imprinting on otherwise normal tissue;

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46
Q

arthrogryposis

A

contractures of the extremities due to prolonged leakage of AF resulting in fetal crowding

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47
Q

disruptions

A

consequence of fetal tissue destruction: vascular insufficiency or mechanical damage

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48
Q

ultrasound examination categories

A

limited(placental location), standard(18-20 weeks check up), specialized/targeted(fetal ECHO)

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49
Q

first trimester US (10-13.6 weeks)

A

confirm pregnancy, estimate GA, evaluate pelvic anatomy; aneuploidy screening: nuchal transluency (70% downs) ; in the future might be replaced by NIPS;

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50
Q

second trimester US (15-22.6 weeks)

A

fetus anatomy : fetal number, presentation, cardiac activity, AF and placental characteristics; fetal organ survey

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51
Q

triple screen

A

maternal serum AFP, hCG, unconjugated estriol

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52
Q

cell free DNA screening

A

maternal blood screen; non-invasive prenatal screening (NIPS)-cant replace prenatal diagnosis;

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53
Q

NIPS non invasive prenatal screening

A

tests for aneuploidy (trisomy), (not recommended for microdeletions,) deletions and duplications

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54
Q

Serum Alpha-fetoprotein (AFP)

A

(15-20 weeks); screens for NTDs; false positive if contaminated with blood

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55
Q

screening for hemoglobinopathies

A

CBC early in pregnancy; for all women; if at rick then test FOB

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56
Q

carrier screening for Cystic Fibrosis

A

mutation of chromosome 7; s&s: chronic pulmonary disease, pancreatic insufficiency, liver disease; CTFR gene;

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57
Q

Jewish Carrier Screening

A

Ashkenazi heritage

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58
Q

carrier screening for Spinal Muscular Atrophy (SMA)

A

progressive neuromuscular disease resulting from degeneration of spinal alpha neurons; offered to all couples

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59
Q

diagnostic modalities

A

chorionic villus sampling (CVS), amniocentesis, cordocentesis

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60
Q

Chorionic Villus Sampling

A

small sample of the placenta; 10-13 weeks; often same karyotype as fetus; NOT for Alpha-fetoprotein, NOT for NTDs;

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61
Q

Amniocentesis

A

withdrawal of AF (20-30 ml) from the uterine cavity; prenatal genetics and lung maturity; 15-22 weeks; used to test NTDs, FISH

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62
Q

karyotyping

A

Giemsa stain; analysis of banding pattern; advantage: whole genome analyzed at one time

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63
Q

FISH

A

fluorescence microscopy; advantage: can be applied to non-dividing and dividing cells; ; disadvantage: structural abnormalities can be missed;

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64
Q

microarray technology

A

gene expression analysis; detect smaller changes than karyotype;

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65
Q

future in PRENATAL diagnostics

A

next generation sequencing, WES and WGS;

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66
Q

Assisted Reproductive Technologies

A

IVF

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67
Q

Genetic Evaluation and Counseling

A

family and personal HX; ethnic background; tetatogen exposure; abnormal US; previous pregnancy loss

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68
Q

Fetal Imaging Techniques

A

B-mode: standard (confirmation of cardiac activity and fetal movement; M-mode (arrhythmia, myocardial contractility, pericardial effusions); doppler US (color and power): sound and color; three-dimensional US;

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69
Q

diagnostic US energy

A

bioeffects: heating and cavitation;

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70
Q

application of US

A

genetic screening, assisted reproduction(complications), multiple gestation(3% of all pregnancies); standard method for recognition of fetal anomalies

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71
Q

US fetus with Downs anomalies

A

endocardial cushion defect, duedenal atresia, small atrioseptal and vantriculoseptal cardiac defects; thickened nuchal fold

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72
Q

monochorionic TTTS

A

shared perfusion: restricts growth and AF production in the donor, and causes volume overload, cardiac dysfunction, polyhydramnios in the reciepient

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73
Q

Twin Reversed Arterial Perfusion TRAP

A

“pump twin” vs “acardiac/parabiotic twin” flow in the artery and veins are reversed

74
Q

sonographic measurements and US parameters

A

basis for accurate GA and detection of fetal growth abnormalities

75
Q

Biparietal diameter

A

parietal bone calsification in 12 week; closest correlation with GA in the 2nd trimester

76
Q

US fetal growth assessment/ fetak biometry

A

BPD (biparietal diameter), head circumference, abdominal circumference, femoral length; no golden standard, in third semester usually undetected

77
Q

Placental abnormalities US

A

US is ultimate diagnosis for placental DX; placental location;

78
Q

funic

A

umbilical cord

79
Q

vasa previa

A

fetal vessels overlying the os

80
Q

placenta previa

A

common source of severe third semester bleeding

81
Q

Amniotic Fluid Volume

A

16weeks done by renal production; 24h turnover; 1000ml

82
Q

polyhydramnios

A

malformations of esophagus and upper GI, inhibited fetal swallowing, aneuploidy, intermittent renal obstruction, maternal DM, TTTS, dwarfisms, fetal hydrops; usually idiopathic; more than 2000ml

83
Q

oligohydramnios

A

after membrane rupture, urogenital anomalities; maternal dehydration; meds: indomethacin, ACE inhibitors;

84
Q

cervical length US

A

correlates with duration of gestation; under 25mm increase premature labor; cerclage

85
Q

doppler US

A

identification and localization of blood flow; abnormal doppler US presese growth restriction and maternal HPT complications;

86
Q

Biophysical Profile (BPP)

A

non-invasive US-based clinical tool; (1) tidal fetal breathing, (2)AF pocket (3)three fetal movements (4)fetal tone (5) reactive NST

87
Q

Hydrocephalus

A

raised intracranial pressure, not done by US; does NOT happen with NTDs;

88
Q

fetal ventriculomegaly

A

10mm

89
Q

Meningomyelocele and Chiari Malformation (type II)

A

downward displacement of the hindbrain;

90
Q

“lemon sign”

A

altered appearance of calvarium; 18-24 weeks; DX of spina bifida

91
Q

“banana sign”

A

abnormal cerebral positioning; DX of spina bifida

92
Q

anencephaly

A

absence of normal brain; 10 weeks; alpha fetoprotein very elevated; cause abnormal prolongation of pregnancy; no survival

93
Q

encephalocele

A

extracranial protrusion of brain tissue

94
Q

holoprosencephaly

A

malformation of brain resulting from early failure of division; trisomy 13; 11-14 weeks, butterfly sign

95
Q

Choroid Plexus Cyst

A

usually resolve by early 3rd trimester; normal karyotype; associated with trisomy 18

96
Q

spine US

A

3D imaging; sacrococcygeal tetratomas (SCTs) congenital germ cell tumors; uncomplicated SCTs prognosis is excellent;

97
Q

head and neck US

A

14 weeks; orbits, facial clefting; nasal bones;

98
Q

cystic hygroma US

A

mass arising from neck and occipital region secondary to lymphatic malformation; monosomy X;

99
Q

heart US

A

18-22 weeks; four chambers and great arteries at 13-14 weeks;

100
Q

GI US

A

esophageal atresia and Tracheoesophageal Fistula; small bowel obstruction( “double-bubble”, trisomy 21) anterior abdominal wall defect (omphalocele, gastroschisis); Diaphragmatic hernia and thoracic lesion (fluid filled intrethoracic bowel loops, mass effect on lungs causing: pulmonary hypoplasia, and secondary pulmonary HPT; fetal hydrops (accumulation of fluid); gallbladder and bile ducts

101
Q

GU US

A

kidneys 12-14 weeks; bladder;

102
Q

Potter syndrome

A

prolonged oligohydramnios, characteristic facial apperance, limb deformities, pulmonary hypoplasia

103
Q

anhydramnios

A

no measurable fluid in the bladder

104
Q

pyelectasis

A

dilation of the renal pelvis, 4-7mm

105
Q

hydronephrosis

A

dilation of the renal pelvis 1cm

106
Q

MS US

A

skeletal dysplasia (falling below 3SD measure)

107
Q

phocomelia

A

extreme generalized limb reduction or absence

108
Q

micromelia

A

overall limb shorthening

109
Q

rhizomelia

A

proximal reduction (femurs and humeri)

110
Q

mesomelia

A

more distal reduction (forearms and lower legs)

111
Q

acromelia

A

most distal reduction (hands and feet)

112
Q

dysostosis

A

absence of various skeletal portions

113
Q

two vessel umbilical cord

A

restricted growth, serial third trimester examination recommended

114
Q

antepartum

A

testing done remote from delivery

115
Q

intrapartum

A

testing done during labor

116
Q

antepartum fetal surveillance

A

MOB subjective assessment “kick counts”; non-stress test (NST), CST, Biophysical profile, AF volume assessment; doppler flow velocimetry; if normal then usually performed on weekly basis

117
Q

what alteres fetal biophysical paremeters?

A

hypoxemia and acidosis

118
Q

non-stress test

A

NST: monitor FHR for up to 40 minutes, observe for HR accelerations; peak up 15bpm and last 15 sec; usually starts at 32-34 weeks

119
Q

contraction stress test

A

CST: evaluate FHR in response; to maternal contractions; MOB had at least 3* 40 sec contractions in 10 minute period

120
Q

biophysical profile

A

NST and US; 30 minute period, score can be only even number: 0-10;

121
Q

AF volume assessment

A

US: measuring and adding the maximal vertical pockets of fluid

122
Q

Doppler flow velocimetry

A

evaluation of fetus with possible IUGR

123
Q

fetus respiratory acidosis

A

carbon dioxide accumulates secondary to impaired clearance by the lungs/placenta;

124
Q

respiratory vs metabolic acidosis

A

check base deficit; high base deficit is caused by metabolic process

125
Q

metabolic processes

A

more concerning than respiratory; excess tissue lactate generation; longer time to correct; result of prolonged or severe deprivation of oxygen, triggers lactate production in fetal tissues

126
Q

respiratory acidosis

A

low umbilical ph, low 1-minute apgar; faster to correct through proper ventilation

127
Q

continuous electronic FHR monitoring

A

externally and internally(contradicted with hepatitis and HIV);

128
Q

continuous FHR recordings

A

FHR baseline 110-160bpm;

129
Q

primary response to hypoxemia

A

tachycardia secondary to sympathetic discharges

130
Q

FHR variability

A

fluctuation in FHR baseline of two cycles per minute or greater, with irregular amplitude and inconstant frequency

131
Q

FHR accelerations

A

periodic elevations above baseline, always reassuring; but absence is not concerning

132
Q

FHR decelerations

A

episodic decreases below the baseline; “early”: increases in intracranial pressure; “variable”:systemic vascular resistance; “late”: hypoxemia ; recurrent(50%) or prolonged(2 minutes)

133
Q

early decels

A

shallow and symmetric, gradual in onset and recovery same time as the peak of contraction; Cushing reflex; unrelated to fetal oxygenation and acid-base balance

134
Q

variable decels

A

abrupt onset and abrupt return to baseline; vary in shape, duration, and depth; associated with compression of umbilical cord(can lead to presence of umbilical cord compression, oligohydramnios, prolapse of cord through the cervix); maternal position changes can solve “decels”

135
Q

late decels

A

more gradual onset and return baseline (30sec); occur after the contraction; caused by hypoxemia and tissue level hypoxia; resolved my positional change, oxygen supplementation, two mechanisms of action ;)

136
Q

fetal tracing categories

A

category I: normal (110-160, moderate variability, absence of late and variable decels; early decels ok, accelerations may or may not be present
category II: indeterminate tracing
category III: abnormal (absent baseline with any of these:-recurrent late decels, recurrent variable decels, bradycardia; and sinusoidal pattern

137
Q

how to manage patterns during labor?

A

rule out immediate delivery: cord prolapse, placental abruption, or uterine rupture
rule out meds and MOB BP
rule out frequent contractions not allowing for recovery (oxytocin)
change maternal position: lateral recumbent
give supplemental oxygen
give fluids: amnioinfusion

138
Q

The Developmental Origins of Health and Disease / DOHaD

A

field of study that explores the relationship between exposure to environmental stressors during critical periods of fetal development and adverse health outcomes that occur across a lifetime; originally published by Baker

139
Q

preconceptual effects

A

epigenome; maternal and paternal exposures

140
Q

epigenetics

A

study of phenotypic changes occurring in the absence of modification of DNA sequence; genomic imprinting; mechanism: DNA methylation, alternation of expression patterns in micro RNA, modification of histone proteins

141
Q

genomic imprinting

A

silencing of one parental allele leading to monoallelic gene expression; differential expression of specific genes according to parental origins

142
Q

maternal exposure

A

active smoking; environmental toxicants; DES (given to prevent miscarriage) can cause your offspring infertility

143
Q

paternal exposure

A

environmental toxicants: pesticides, can cause offspring infertility and/or cancer, and birth defects

144
Q

maternal body burden

A

adipose tissue stores chemicals, bones store lead and fluoride; PCBs ; Lead

145
Q

maternal exposures concurrent with pregnancy

A

occupation and paraoccupational: lead, mercury, pesticides, organic solvents, ionizing radiation; air pollution; drinking water; diet

146
Q

pathways of fetal exposure

A

placenta-dependent: by crossing the placenta

placenta- independent: radiation, heat, noise,

147
Q

fetal pharmacokinetics

A

absorption: increase in progesterone prolongs gastric emptying, slows GI; hyperventilation…then increases overall exposure
distribution: increased fat, increased fluid volume, AF, prolongs elimination….causing prolonged overall exposure
metabolism: increase, ontogeny of fetal phase I and phase II metabolism in the liver, genetic polymorphisms in drug metabolizing enzymes

148
Q

specific exposure

A

cigarette smoking, ethanol, pesticides, Bisphenol A, S, f; Phthalates, organic solvents,

149
Q

epigenetic transgenerational inheritance

A

epimutations in the germline (egg or sperm) that are passed to future generations and leads to variations in phenotypic expressions

150
Q

active cigarette smoking during pregnancy

A

reduced fertility, placental dysfunctions, spontaneous abortions, IUGR, PTL, congenital anomalities, SIDS

151
Q

Fetal Alcohol Spectrum Disorder vs FAS

A

extreme end spectrum: characteristic facial features, and neurodevelopmental impairment

152
Q

pesticides

A

neurotoxins; endocrine disruptors, immunotoxicants, carcinogens

153
Q

BPA and phthalates (PVC)

A

plastic, BPA- estrogeic, PVC-anti-androgenic

154
Q

Organic solvents

A

household cleaning supplies, teratogens

155
Q

“normal” fetal growth

A

10-90 percentile for GA

156
Q

SGA

A

less than 10 percentile

157
Q

IUGR

A

all fetuses with evidence of malnutrition or in utero growth restriction, can include infants above 10 percentile; 10% of all live born infants; suboptimal nutrient and oxygen provision to the fetus, often secondary to poor placental perfusion; fetal growth less that its genetic potential

158
Q

complications of IUGR

A

short: hypoglycemia, hyperbili, hypothermia, RDS
long: neurodevel delays, cardiometabolic (obesity, DM2, CV disease)

159
Q

asymmetric IUGR

A

decrease in intrauterine nutrition and oxygen; nutrients go to vital organs: brain and heart; disproportionately HC compared to weight; manifests in third semester; “head-sparing”; more common; placental insufficiency

160
Q

symmetric IUGR

A

proportionately low measurements of HC, weight and length; less common; detected earlier in pregnancy, genetics or chromosomal; pregnancy infections (rubella, TORCH, malaria)

161
Q

etiology of IUGR

A

maternal, fetal, placental, environmental factors, or combination

162
Q

fetal IUGR

A

asymmetric: genetics;
symmetric: chromosomal trisomy 13, 18, 21; structural

163
Q

maternal IUGR

A

asymmetric: age, parity, race, nutrition; medical conditions and DX,
symmetric: advanced maternal disease: severe HPT

164
Q

environmental IUGR

A

asymmetric: teratogen exposure, substance abuse, altitude, assisted reproductive technology
symmetric: infectious disease(malaria, rubella, CMV, syphilis)

165
Q

placental IUGR

A

multiple gestation, insufficiency(most common of all for IUGR), placental disorders and umbilical cord abnormalities;

166
Q

pathophysiology IUGR

A

chromosomal (decrease number of fetal cells); hormones: insulin, thyroid, adrenal, pituitary

167
Q

antenatal screening IUGR

A

maternal and family HX; maternal physical exam (fundal height measurment); fetal US (four biometric measurements) : best predictor- abdominal circumference; Doppler velocimetry: umbilical artery (absent or reverses end-diastolic flow)

168
Q

hypoglycemia IUGR

A

suboptimal glycogen stores, impaired gluconeogenesis; formula, gavage, IVF

169
Q

hypothermia IUGR

A

decreased brown fat; exogenous heat (incubator)

170
Q

RDS IUGR

A

pulmonary vascular remodeling; support respiratory care

171
Q

NEC IUGR

A

especially AEDF and REDF; exclusive breast milk, trophic feeds

172
Q

other issues DX with IUGR

A

IVH, electrolyte abnormalities, jaundice/polycythemia, abnormal immunity

173
Q

adaptive mechanisms and intrauterine environment

A

create finely crafted “thrifty” phenotype that may tip towards a disease state

174
Q

imprinting disorders due to IVF

A

Beckwith-Wiedemann, Angelman, Prader-Willi syndromes, hypomethylation syndrome

175
Q

low weight and slow growth pattern followed by exponential growth during childhood causes what?

A

metabolic syndrome

176
Q

postnatal “catch-up” growth

A

result in adiposity (too much white adipose tissue), sets adults for metabolic syndrome, DM, and coronary artery disease

177
Q

mismatch concept

A

the earlier the deprivation phase is followed by catch-up growth, the more significant the consequences in adult life

178
Q

placental abnormalities and adult chronic disease

A

HPT and CHD

179
Q

Gestational DM and long-term effect on offspring

A

obesity, insulin resistance, DM2

180
Q

high estrogen in pregnancy effects on offspring

A

high estrogen in advanced maternal age, twins and LGA can cause PIH, cancer

181
Q

chronic antenatal and postnatal stress

A

neurodevelopmental impairments;

182
Q

tocometry

A

contractions monitoring

MCN568 (11 decks)

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