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
Teratogenic Effects of **Rubella**
26
Teratogenic Effects of **CMV**
27
Teratogenic Effects of **HSV-2**
28
Incidence of **Congenital Fetal Anomalies**
Major birth defects occur in about 3% of all deliveries.
29
Classification of **Congenital Fetal Anomalies**
30
Classification of **Congenital Fetal Anomalies** - Cardiopulmonary
1) Fetal arrhythmias. 2) Hypoplastic Lt heart syndrome. 3) Diaphragmatic hernia. 4) Transposition of great vessels. 5) Pleural effusion.
31
Classification of **Congenital Fetal Anomalies** - CNS
1) Neural tube defects (NTDs): Spina bifida & anencephaly. 2) Hydrocephalus. 3) Meningocele, meningomyelocele or meningoencephalocele.
32
Classification of **Congenital Fetal Anomalies** - GIT
Gastroschisis, omphalocele, esophageal atresia & duodenal atresia.
33
Classification of **Congenital Fetal Anomalies** - Renal
Polycystic kidney & cystic dysplasia due to obstructive uropathy.
34
Classification of **Congenital Fetal Anomalies** - Skeletal
Osteogenesis imperfecta & heterozygous achondroplasia.
35
Classification of **Congenital Fetal Anomalies** - Genetic Disorders
36
Classification of **Congenital Fetal Anomalies** - Cystic hygroma
...
37
Etiology of **Congenital Fetal Anomalies**
- No definite etiology for each fetal congenital anomaly however, prenatal diagnosis is recommended in certain conditions (see below).
38
**Prenatal Dx of Congenital Anomalies** - Indications
39
**Congenital Fetal Anomalies** - Benefits
40
**Congenital Fetal Anomalies** - Techniques
41
**Congenital Fetal Anomalies** - Non-Invasive Techniques
42
Non-Invasive Techniques in Dx of **Congenital Fetal Anomalies** - Fetal Visualization
43
Non-Invasive Techniques in Dx of **Congenital Fetal Anomalies** - Biochemical Markers
44
Non-Invasive Techniques in Dx of **Congenital Fetal Anomalies** - Separation of fetal cells from mothers blood
For chromosomal & genetic studies.
45
Non-Invasive Techniques in Dx of **Congenital Fetal Anomalies** - Dx of Infection
...
46
Invasive Techniques in Dx of **Congenital Fetal Anomalies**
47
Invasive Techniques in Dx of **Congenital Fetal Anomalies** - Fetal Visualization
Embryoscopy & fetoscopy.
48
Invasive Techniques in Dx of **Congenital Fetal Anomalies** - Fetal Tissue Sampling
49
Chromosomal & Genetic Studies in **Teratology**
50
Chromosomal & Genetic Studies in **Teratology** - Barr Body Testing
For screening of sex chromosome abnormalities
51
Chromosomal & Genetic Studies in **Teratology** - Karyotyping
For numerical & gross chromosomal abnormalities.
52
Chromosomal & Genetic Studies in **Teratology** - DNA Analysis
a) Prenatal diagnosis of single gene (Mendelian) disorders. b) Twin zygosity determination. c) Paternity testing.
53
Screening for Down Syndrome
54
Screening for Down Syndrome - Triple Test
55
Screening for Down Syndrome - US
56
Causes of Abnormal MSAFP
57
Causes of **Increased MSAFP**
58
Causes of **Increased MSAFP** - physiological
Underestimation of GA, black women, multifetal pregnancy.
59
Causes of **Increased MSAFP** - pathological
60
Causes of **Decreased MSAFP**