L12: Teratology Flashcards

1
Q

Def of Teratology

A
  • Study of abnormal fetal development
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2
Q

Factors Affecting Teratogenecity

A
  • Genetic predisposition
  • Route & duration of exposure to teratogen.
  • Developmental stage at time of exposure
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3
Q

Factors Affecting Teratogenecity

  • Genetic Predisposition
A

Both maternal & embryonic.

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4
Q

Factors Affecting Teratogenecity

  • route & Duration of exposure to teratogen
A

….

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5
Q

Factors Affecting Teratogenecity

  • Developmental stage
A
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6
Q

Types of Structural Defects

A
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7
Q

Examples of Teratogenic Agents

A

A) Drugs & medications
B) Alcohol
C) Ionizing radiation
D) Hyperthermia
E) Maternal medical disorders
F) Fetal infection

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8
Q

Drugs & Meds account for ….. of congenital malformations

A

<1%

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9
Q

FDA classification of drug teratogenicity

A
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10
Q

Factors affecting access of drug or medication to fetus

A
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11
Q

Teratogenic Effects of Tetracycline

A

Anomalies of teeth & bones.

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12
Q

Teratogenic Effects of Antiepileptic drugs (Phenytoin, Carbamazepine & Valproic acid)

A
  • Most common malformations are cleft lip, cleft palate, congenital heart diseases & NTDs
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13
Q

Teratogenic Effects of Oral anticoagulants (Warfarin)

A

Skeletal & facial anomalies & Dandy-Walker syndrome

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14
Q

Teratogenic Effects of Danazol & androgen

A

Virilization of female fetus

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15
Q

Teratogenic effects of Chemotherapeutics (MTX & Cyclophosphamide)

A

CNS & limb malformations.

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16
Q

Teratogenic Effects of Alcohol

A
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17
Q

Commonest known teratogenic cause
of MR

A

alcohol

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18
Q

Teratogenic Effects of Ionizing Radiation

A
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19
Q

Teratogenic Effects of Ionizing Radiation

  • Time of Exposure
A
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20
Q

Teratogenic Effects of Ionizing Radiation

  • Doses
A
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21
Q

Teratogenic Effects of Hyperthermia

A
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22
Q

Maternal medical disorders causing teratogenecity

A
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23
Q

Teratogenic Effects of Syphilis

A
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24
Q

Teratogenic Effects of Toxoplasmosis

A

Triad of congenital toxoplasmosis:
▪ chorioretinitis, cerebral calcification & hydrocephalus

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25
Q

Teratogenic Effects of Rubella

A
26
Q

Teratogenic Effects of CMV

A
27
Q

Teratogenic Effects of HSV-2

A
28
Q

Incidence of Congenital Fetal Anomalies

A

Major birth defects occur in about 3% of all deliveries.

29
Q

Classification of Congenital Fetal Anomalies

A
30
Q

Classification of Congenital Fetal Anomalies

  • Cardiopulmonary
A

1) Fetal arrhythmias.
2) Hypoplastic Lt heart syndrome.
3) Diaphragmatic hernia.
4) Transposition of great vessels.
5) Pleural effusion.

31
Q

Classification of Congenital Fetal Anomalies

  • CNS
A

1) Neural tube defects (NTDs): Spina bifida & anencephaly.

2) Hydrocephalus.

3) Meningocele, meningomyelocele or meningoencephalocele.

32
Q

Classification of Congenital Fetal Anomalies

  • GIT
A

Gastroschisis, omphalocele, esophageal atresia & duodenal atresia.

33
Q

Classification of Congenital Fetal Anomalies

  • Renal
A

Polycystic kidney & cystic dysplasia due to obstructive uropathy.

34
Q

Classification of Congenital Fetal Anomalies

  • Skeletal
A

Osteogenesis imperfecta & heterozygous achondroplasia.

35
Q

Classification of Congenital Fetal Anomalies

  • Genetic Disorders
A
36
Q

Classification of Congenital Fetal Anomalies

  • Cystic hygroma
A

37
Q

Etiology of Congenital Fetal Anomalies

A
  • No definite etiology for each fetal congenital anomaly however, prenatal diagnosis is recommended in certain conditions (see below).
38
Q

Prenatal Dx of Congenital Anomalies

  • Indications
A
39
Q

Congenital Fetal Anomalies

  • Benefits
A
40
Q

Congenital Fetal Anomalies

  • Techniques
A
41
Q

Congenital Fetal Anomalies

  • Non-Invasive Techniques
A
42
Q

Non-Invasive Techniques in Dx of Congenital Fetal Anomalies

  • Fetal Visualization
A
43
Q

Non-Invasive Techniques in Dx of Congenital Fetal Anomalies

  • Biochemical Markers
A
44
Q

Non-Invasive Techniques in Dx of Congenital Fetal Anomalies

  • Separation of fetal cells from mothers blood
A

For chromosomal & genetic studies.

45
Q

Non-Invasive Techniques in Dx of Congenital Fetal Anomalies

  • Dx of Infection
A

46
Q

Invasive Techniques in Dx of Congenital Fetal Anomalies

A
47
Q

Invasive Techniques in Dx of Congenital Fetal Anomalies

  • Fetal Visualization
A

Embryoscopy & fetoscopy.

48
Q

Invasive Techniques in Dx of Congenital Fetal Anomalies

  • Fetal Tissue Sampling
A
49
Q

Chromosomal & Genetic Studies in Teratology

A
50
Q

Chromosomal & Genetic Studies in Teratology

  • Barr Body Testing
A

For screening of sex chromosome abnormalities

51
Q

Chromosomal & Genetic Studies in Teratology

  • Karyotyping
A

For numerical & gross chromosomal abnormalities.

52
Q

Chromosomal & Genetic Studies in Teratology

  • DNA Analysis
A

a) Prenatal diagnosis of single gene (Mendelian) disorders.

b) Twin zygosity determination.

c) Paternity testing.

53
Q

Screening for Down Syndrome

A
54
Q

Screening for Down Syndrome

  • Triple Test
A
55
Q

Screening for Down Syndrome

  • US
A
56
Q

Causes of Abnormal MSAFP

A
57
Q

Causes of Increased MSAFP

A
58
Q

Causes of Increased MSAFP

  • physiological
A

Underestimation of GA, black women, multifetal pregnancy.

59
Q

Causes of Increased MSAFP

  • pathological
A
60
Q

Causes of Decreased MSAFP

A