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SDR II > Teratology > Flashcards

Teratology Flashcards

0
Q

Top 2 causes of infant mortality (up to age 4)

A

Birth defects

Preterm/Low birthweight

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1
Q

What % of zygotes and pregnancies result in normal, healthy babies?

A

25% zygotes

<50% pregnancies

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2
Q

Gestational milestones in order

A 
Implantation
Primitive streak
Early Differentiation
Organogenesis Ends
Usual Parturition
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3
Q

When does birth defects start in gestation?

A

Primitive streak onwards

6 weeks

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4
Q

Why do you have to know the gestational period of a women before giving pills?

A

primitive streak (6 weeks) to organogensis end (50 weeks) is birth defects

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5
Q

Intercellular Signals

A 
Message sent by inducer
Spatial proximity
received by compentent population
∆ developmental state 
Maturational or stability
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6
Q

What allows for internal rearrangement in humans?

A

We have time in gestation, development schedules, populations of cell

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7
Q

What is the dynamic nature of embryonic development?

A

There is a small period of time to go back before going forward

Ability to adjust to changing conditions

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8
Q

How much do we not know about the cause of birth defects?

A

50%

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9
Q

developmental plasticity

A

ability of a single gene to express +1 phenotype based on environmental conditions
(BMI >27; T2D, CHD)
Reason to advocate early prenatal care

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10
Q

What causes chromosomal abnormaities typically?

A

nondisjunction during gametogenesis

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11
Q

How much ova are aneuploid in humans mostly?

A

15%, increases in maternal age

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12
Q

How else can aneuploid happen?

A

nondisjunction during cleavage: results in mosaicism of zygote

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13
Q

Signs of Trisomy 21/Down Syndrome

A

Brachycephaly
flat nasal bridge
upward slanding palpebral fissures
Simian crease

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14
Q

Fatality in Trisomy 21/Down Syndrome

A

75% spontaneous abort
20% still born
Survivors survive into 50’s

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15
Q

Trisomy 18/Edward Syndrome Signs

A

Flexed digits
Micrognathia
Low set, malformed ears
prominent occiput

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16
Q

Fatality in Trisomy 18/Edward Syndrome

A

50% spontaneously abort

survival rarely past 6 month

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17
Q

Signs of Patau Syndrome/Trisomy 13

A

Cleft lip/palate
Sloping forhead
CNS malformations
Polydactyly

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18
Q

Fatality of Patae Syndrome/Trisomy 13

A

50% spontaneously abort

Rarely survive beyond 6 months

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19
Q

Signs of Turner syndrome/45, X

A

Lymphedema
Lack of secondary sex characteristics
Webbed neck
broad chest

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20
Q

Fatality of Turner Syndrome/45, X

A

1% embryos survive

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21
Q

X missing in Turner’s syndrome

A

Paternal X usually

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22
Q

47, XXX

A

Normal female appearance
fertile
20% mentally retarded

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23
Q

47, XXY/Klinefelter Syndrome

A 
Male
small testes
aspermatogenesis
long legs
intelligence deficit
gynecomastia
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24
Q

47, XYY

A

Normal male appearance

tall

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25
Q

Triploidy 3N

A

Intrauterine growth retardation
Small trunk
large head

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26
Q

What typically causes triploidy 3N

A

dispermy

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27
Q

Fatality of triploidy 3N

A

live births are extremely rare

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28
Q

Tetraploidy 4N

A

Abort very early

probs due to failure of cytoplasmic cleavage or chromosomal segration at first mitotic cleavage division

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29
Q

Nonhomologous DNA translocation caused by

A

radiation, drugs, chemicals, viruses

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30
Q

balanced vs unbalanced translocation

A

balanced: non DNA lost or added - less severe

unbalanced - more severe

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31
Q

Cri du chat syndrome

A

deletion of short arm of chromosome 5

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32
Q

Cri du chat syndrome or deletion of short arm of chromosome 5 results in

A

microcephaly
severe mental retardation
heart anomalies

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33
Q

Duplications can exist as (3)

A
  1. Tandem repeat within chromosome
  2. attached to a chromosome
  3. As a separate fragment
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34
Q

Duplications compared to deletions

A

More common

Less harmful

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35
Q

Inversions

A

Segment of chromosome is reversed

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36
Q

2 types of chromosomal inversion

A

ParAcentric: single arm
Pericentric: both arms, including the centromere

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37
Q

What happens in inversion

A

interes with homolgous recombination and segration during meiosis

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38
Q

Isochromosomes

A

centromere divides dransversely intead of longitudinally

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39
Q

Most common structural defect of X chromosome

A

Isochromosomes

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40
Q

When can mutations not be deliterious?

A 
When good (evolution)
When silent: no effect on protein function or impair function of a redundant gene
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41
Q

What disease has a problem with sonic hedgehog?

A

Holoprosenscephaly

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42
Q

What happens in holoprosencephaly?

A

Failure of forebrain to completely separate into 2 lobes
leads to a wide range of brain, skull and facial defects
(form cleft lip to cyclopia/hypertolorism with proboscis)

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43
Q

Dwarfism disease name

A

Achondroplasia: FGFR3

44
Q

Predisposition for suceptibility or resistance in embryo genotype oftem due to

A

plymorphisms in drug netabolizing enzymes

phenytoin/dilantin

45
Q

Fetal hydantion (dilantin) syndrome

A

Phenytoin stuck in toxic epoxide intermediate without epoxide hydrolase

46
Q

Fetal hydantion (dilantin) syndrome signs

A 
5% of fetuses
IUGR
microcephaly
mental retardation
altered facies
underdeveloped nails
47
Q

∆s in women during pregnancy

A 
50% increase in plasma volume
"" CO
"" GFR
 ↓ systemic vacular resistance
" plasma protein binding
Altered salts and mineral metabolism
Greater pulmonary ventilation
48
Q

Toxicities to embryo (3) from mother toxicity

A
  • aminopterin
  • methyllmercury
  • polychlorinated biphenyls (eh)
49
Q

Toxicity to embryo in stress (3)

A

steroidal hormones
ethanol
cigarette smoking

50
Q

Toxicity to embryo without significant maternal effects (4)

A
  1. Thalidomide
  2. Accutane
  3. Diethylstilbestrol
  4. Ionizing radiation
51
Q

Preeclampsia

A

blood vessels in uterus constrict
Restricts blood supply to placneta and increases bp in mother
associated with ↓ VEGF in maternal blood

52
Q

What decreases incidence of preeclampsia

A

periconecptual multivitamins

53
Q

Risk of birth defects in poor glucose control vs normally

A

10% to 3%

54
Q

Maternal diabetes associated with (3)

A
  1. Macrosomia (large baby)
  2. Spina bifida
  3. Heart, Skeletal, Urinary, reproductive, and digestive tract defects
55
Q

Hyperthermia in mother happens in situations of (3)

A

Fever,
extremely vigorous exercise,
hot tub/sauna

56
Q

What and when: hyperthermia

A

3-4 weeks gestation when the neural tube is closeing
increased risk of neural tube defects
(including spina bifida to anencephaly)

57
Q

Phenylketonuria (PKU)

A

defect in phenylalanine metabolism (phylalanine hydroxylase)

58
Q

PKU controlled by

A

avoiding certain foods high in phenylalinine (meat, fish, eggs, dairy products, nuts, lentis, aspartame)

59
Q

Excess Phe

A

abnormal brain development and mental retardation
heart defects
behavior problems

60
Q

Difference between malformation and deformation?

A

Deformation is late in gestation and caused by physical changes

61
Q

Septate Uterus can cause:

A
  • club foot
  • hip dislocation
  • skull deformation
  • reduction defects of limbs, face
62
Q

Oligohydramnios

A

Low level of amniotic fluid often due to renal agenesis or amnion lea

63
Q

Prader Willi Syndrome

A

Paternal exposure of hydrocarbon

15q deletion

64
Q

Prader Willi Syndrome results in

A

hypothalamic dysfunction
hyperphagia
obesity
etc

65
Q

What can somewhat protect the fetus?

A

Maternal IgG but not well, infections mild or asymptomatic in mother may seriously damage the fetus

66
Q

Rubella Virus/German Measles trad of clinical signs

A
  1. Cataract
    Hearing defect
    Patent ductus arteriosis
67
Q

Rubella VIRUS/German Measles sensitivity period

A

Earlier = greater risk

up to 5 weeks of gestation

68
Q

Most common VIRAL infection at birth in US

A

Cytomegalovirus

69
Q

1/2 of infected infants with cytomegalovirus get: (4)

A
  1. Hearing loss
  2. Mental disability
  3. Impaired liver function
  4. Poor growth
70
Q

Do cytomegalovirus infants get problems at birth?

A

10% are asymptomatic at birth and manifest problems within first few years of life

71
Q

What type of infection is toxoplasma gondii

A

Protozoan

72
Q

How is the protozoan infection of toxoplasma gondii spread?

A

via raw meat and cat feses

early exposure = greater risk

73
Q

Symptoms of toxoplasma gondii (10% at birth): (3)

A
  1. Eye infections
  2. enlarged liver and spleen
  3. jaundice
74
Q

Symptoms of toxoplamsa gondii if later due to reactivation of latent infection

A
  1. Eye infections
  2. vision impairment (retinochoroiditis)
  3. hearing loss
  4. learning disabilities
75
Q

What type of infection is Treponema pallidum (syphilis)

A

Spirochete bacteria

76
Q

When/How can treponema pallidum (syphilis) be treated?

A

antibiotic treatment of maternal syphilis before 16 weeks gestation

77
Q

Effects of treponema pallidum?

A
  1. Stillbirth/neonatal death
  2. Dental anomalies
  3. Deafness
  4. Mental retardation
  5. Skin, bone lesions
  6. Meningitis
78
Q

Do birth defects have pathognomonics?

A

NO those are unique to a single cause/etiology

birth defect anamolies ARE NOT

79
Q

What things can cause spina bifida as a characteristic not a pathognomonics

A
  1. genetic mutation
  2. methotrexate
  3. valproic acid
  4. maternal diabetes
  5. hyperthermia
  6. Folate Deficiency
80
Q

Methylmercury in shellfish yielded

A

itai-itai, convulsions, psychosis, coma, death
in utero: neurological and behavioral disturbances
instability of neck, convulsions, mental retardation, microcephaly, brain damage

81
Q

How does methylmercury cause harm?

A

Stabilizes microtubules, interferes with neuronal cells proliferation and migration

82
Q

PCBs (polychlorinated biphenyls)

A

Used in insulators, hydraulic fluids, plastic pains until ‘77
continued input into environment via disposal of PCB containing products

83
Q

PCDFs (polychlorinated dibenzofurans) - CAUSE OF DEFECTS

A

byproducts of incineration, smelting, steel production, burning fossil fuels, manufacture of chlorinated compounds, bleaching of pulp and paper

84
Q

PCDDs (polychorinated dibenzo-p-dioxin)

A

same as PCDF

TCDD = most infamous of all HAH congener = was in defoliant Agent Orange

85
Q

PCDFS (POLYCHLORINATED DIBENSOFURANS) effects

A 
Prematurity, low birth weight, neonatal death
Growth abnormalities
Neurological damage
Hyperpigmentation
Chloracne
Gum and dental disorders
Rock bottom heel
Sperm defects
86
Q

Fetal alcohol syndrome (FAS)

A

A set of physical and mental birth defects stemming from in utero alcohol exposure

87
Q

Fetal alcohol spectrum disorders (FASD)

A

Umbrella term describing range of fetal alcohol effects

NOT a clinical diagnosis

88
Q

What is the leading PREVENTABLE cause of mental retardation and birth defects?

A

FASD
(1 in 100)
(1 in 1000 FAS)
Societal cost: 5.4 billion annually

89
Q

FAS characteristics

A 
Mental Retardation
Small head circumference
Facial abnormalities:
reduced, indistinct philtrum, thin upper lip, epicanthal folds short palpebral fissures, maxillary hypoplasia, poor frontonasal process development
Growth deficits
Microcephaly
Heart liver, kidney defects
Vision and hearing problems
90
Q

FAS features from later exposure

A 
Motor function
hyperactivity
memory, attention, and judgement problems
language problems
difficulties in school
91
Q

Most sensitive period for FAS

A

1st month of gestation (risky b/c many don’t know they’re pregnant until the 2nd month)
But functional deficits can result from THRU OUT gestation

92
Q

FAS characteristics mechanism of action

A

Excessive cell death (especially neurons)
Decreased cell proliferation
Altered cell migration (especially neural crest)
Loss of cell adhesion
Altered neuronal/glial interactions
Altered differentiation

93
Q

Thalidomide

A

caused teratogenicity if taken when pregnant

Still used for treating leprosy, cancer, certain types blindness

94
Q

Thalidomide effects

A

Quadruple amelia

Phocomelia

95
Q

Retinoids

A

Similar to Vitamin A
teratogenic
dangerous b/c fine for girls but 1/2 of pregnancies are unplanned

96
Q

Retinoid Development Toxicity

A 
Craniofacial defects
Heart malformations
Thymic defects
Cleft palate
Eye and ear deformities
CNS defects
97
Q

Sensitivity period for retinoids

A

3-5 weeks gestation

critical period for cranial neural cret specification

98
Q

Effects of retinoids from

A

Disruption of HOX gene expression and subsequent effects on cranial and cardiac neural crest cells (and somite-derived structures)

99
Q

Amniocentesis

A 
Invasive Prenatal Screening
Performed at 13 weeks gestation
Fetal cells isolated from small volume of amniotic fluid
Genetic/karyotypic analysis
Risk of miscarriage 1:300
100
Q

Chorionic villus sampling

A 
Invasive prenatal screening
Performed at 8-10 weeks gestation
Chorionic villus cells collected
Genetic/karytypic analysis
Risk of miscarriage 1:100
101
Q

Ultrasound

A

Non-invasive so used more than the invasive ones
Nuchal translucency ultrasound
Performed at 9-13 weeks gestation
Increased thickness of nuchal fold >3mm
indicates lymphedema and correlates with trisomy 13, 18, 21

Possible risk of neural architecture disturbance so don’t use too much

102
Q

Maternal serum analysis

A 
Non-Invasive Prenatal Screening
at 15 weeks
AFP, Estriol, ß-hCG
maternal blood has 6 fetal cells/mL 
mostly trophoblasts
Fetal cells differ from maternal cells by surface receptors and methylation patters
cloned, genetic karyotypic analysis performed
no risk of miscarriage
103
Q

High AFP in mother serum =

A

neural tube defects

other combinations = various trisomies

104
Q

Conditions associated with smoking

A

spontaneous abortion, preterm delivery, delivery problems, Intrauterine Growth Retardation (IUGR)/Low birth weight
Altered infant bp

105
Q

Anamolies with smoking

A

Extra digits among children of african descent
Webbing between digits among caucasion males
Not sure about these though

106
Q

Stopping smoking most likely helps decrease infant mortality by

A

decreasing premature births (17%, 4.5K)

107
Q

Should women gain weight in pregnancy?

A

Yes, if stop smoking +5-7, its healthy

SDR II (42 decks)

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