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Embryology > 7 Congenital Malformations > Flashcards

7 Congenital Malformations Flashcards

1
Q

Teratology

A

Study of monsters

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2
Q

True or false. It is easy to determine the cause of congenital malformations.

A

False. It is difficult to determine the exact cause of congenital malformations.

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3
Q

When does organogenesis occur?

A

During the embryonic period ( week3-week8)

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4
Q

What is the leading cause in infant mortality?

A

Congenital malformations

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5
Q

Birth defects may be :

A

Structural
Functional
Metabolic
Behavioral
Hereditary

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6
Q

In the early 19th century, teratology was coined. What does teratology deal with?

A

causes, mechanisms and patterns of abnormal development

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7
Q

What is a teratogen?

A

any agent that may cause developmental disruptions

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8
Q

What happened in late 19th Century?

A

Scientific study of teratology began

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9
Q

Gregg in Australia recognized that rubella virus was a cause of an _________ ____________ ___________ ___________; cataracts, cardiac defects and deafness

A

identifiable syndrome of abnormal
development

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10
Q

what sensitized the medical community?

A

Tragic story of thalidomide

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11
Q

Anatomical accuracy of ancient art often make it possible to……

A

diagnose specific condition or syndrome

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12
Q

__________ ____________ are still being studied to see what causes anomalies

A

Signaling molecules

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13
Q

What are the major causes of congenital malformations and their percentages?

A

Multifactoral 55% ( unknown
Genetic 30%
Environmental 15%

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14
Q

When may death of embryo likely occur?

A

First three weeks

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15
Q

When may malformation of embryo occur?

A

Week 3 to week 8

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16
Q

When may functional disturbance of fetus occur? ( intellectual disabilities)

A

Week 8 to 38 ( birth)

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17
Q

When is the critical period?

A

Week 3 to week 8

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18
Q

What is the highly sensitive period of the heart?

A

Week 3 to week 6

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19
Q

What is the highly sensitive period of the central nervous system?

A

Week 2 to week 7

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20
Q

What is the highly sensitive period of the eyes?

A

Week 3 1/2 to 3 1/2 months

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21
Q

What is the highly sensitive period of the ears?

A

Week 3 1/2 to 4 months

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22
Q

What is the highly sensitive period of the lips and midface ?

A

Week 4 1/2 to week 7

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23
Q

What is the highly sensitive period of the palate?

A

Week 5 1/2 to 3 1/2 months

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24
Q

What is the highly sensitive period of the teeth?

A

Week 5 1/2 to ~<8 week

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25
Q

What is the highly sensitive period of the upper limbs ?

A

3 1/2 weeks to 6 1/2 weeks

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26
Q

What is the highly sensitive period of the lower limbs ?

A

2 1/2 weeks to 7 weeks

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27
Q

What is the highly sensitive period of the external genitalia ?

A

6 1/2 weeks to 4 months

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28
Q

What is the less sensitive period of the heart?

A

6 weeks to 8 weeks

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29
Q

What is the less sensitive period of the central nervous system?

A

7 weeks until birth

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30
Q

What is the less sensitive period of the eyes?

A

4 months until birth

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31
Q

What is the less sensitive period of the ears?

A

4 to 5 months

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32
Q

What is the less sensitive period of the lips and midface?

A

Week 7 until birth

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33
Q

What is the less sensitive period of the palate?

A

3 1/2 months to 4 1/2 months

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34
Q

What is the less sensitive period of the teeth?

A

Week 8 until birth

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35
Q

What is the less sensitive period of the upper limbs?

A

Week 6 1/2 to 3 1/2 months

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36
Q

What is the less sensitive period of the lower limbs?

A

Week 7 to 4 months

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37
Q

What is the less sensitive period of the external genitalia?

A

4 Months until birth

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38
Q

When does formation of the heart begin?

A

Week 3

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39
Q

When does formation of the central nervous system begin?

A

Week 2

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40
Q

When does formation of the eyes and ears begin?

A

Halfway through week 3

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41
Q

When does formation of the lips and midface begin?

A

Halfway through week 4

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42
Q

When does formation of the palate and teeth begin?

A

Halfway through week 5

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43
Q

When does formation of the upper limbs begin?

A

Week 3 1/2

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44
Q

When does formation of the lower limbs begin?

A

Week 2 1/2

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45
Q

When does formation of the external genitalia begin?

A

Week 6 1/2

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46
Q

What is the teratogen that causes Cataract and heart malformations and Deafness?

A

Rubella virus

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47
Q

What is the critical period that if the mother catches the rubella virus will result in cataract and heart malformations in the fetus?

A

0-60 days

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48
Q

What is the critical period that if the mother catches the rubella virus will result in deafness in the fetus?

A

0-120+ days

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49
Q

If a baby was born with reduction defects of limbs. What teratogen was the mother likely exposed to?

A

Thalidomide

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50
Q

What is the critical period that if the mother is exposed to thalidomide will result in reduction defects of the limbs in the fetus?

A

21-40 days

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51
Q

If the baby is born with external female genitalia. What teratogen was the mother most likely exposed to during her pregnancy?

A

Androgenic steroids

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52
Q

What is the critical period that if the mother was exposed to androgenic steroids will result in female external genitalia in the fetus?

A

30-birth

53
Q

If a fetus is born with nasal hypoplasia , or possible mental retardation. What teratogen was the mother likely exposed to?

A

Coumadin anticoagulants

54
Q

What is the critical period that if the mother was exposed to coumadin anticoagulants will result in nasal hypoplasia in the fetus?

A

Earlier than 100 days

55
Q

What is the critical period that if the mother was exposed to coumadin anticoagulants will result in possible mental retardation in the fetus?

A

Later than 100 days

56
Q

If a baby is suffering from fetal thyroid deficiency. What was the mother most likely exposed to?

A

Radio-iodine therapy

57
Q

What is the critical period that if the mother was exposed to radio iodine therapy will result in fetal thyroid deficiency in the fetus?

A

Later than 65-70 days

58
Q

If the baby’s primary teeth enamels are stained. What was the mother exposed to?

A

Tetracycline

59
Q

If the crowns of the baby’s permanent teeth are stained. What was the mother exposed to?

A

Tetracycline

60
Q

What is the critical period that if the mother was exposed to tetracycline will result in staining of enamel in primary teeth in the fetus?

A

Later than 120 days

61
Q

What is the critical period that if the mother was exposed to tetracycline will result in staining crowns of permanent teeth in the fetus?

A

Later than 250 days

62
Q

What is a cause of genetic congenital malformations?

A

Non disjunction of chromosomes

63
Q

Nondisjunction of chromosomes

A

failure to split properly leads to to trisomy/ monosomy. Which can occur in either meiosis i or ii

64
Q

What is the IR of turner syndrome?

A

1 : 3000

65
Q

XO

A

Turner syndrome

66
Q

XXY

A

Klinefelter syndrome

67
Q

XYY

A

Normal appearance;
reputed difficulty with
impulsive/ unpredictable behavior

68
Q

XXX

A

Normal appearance, retardation (1/3rd of cases), fertile (in many cases) WE DONT KNO MUCH ABOUT THESE CASES

69
Q

XO phenotype

A

Immature female

70
Q

XXY phenotype

A

Male

71
Q

XYY phenotype

A

Male

72
Q

XXX mental phenotype

A

Female

73
Q

XXY IR

A

1:1000

74
Q

XYY IR

A

1:1000

75
Q

XXX mental IR

A

1:1000

76
Q

________ are the most common abnormalities of autosome numbers

A

Trisomies

77
Q

True or False. Trisomies are usually fatal.

A

True

78
Q

Trisomies occur with increasing frequency as ____________ increases

A

maternal age

79
Q

Infants with ______________ and ______________ are severely malformed and mentally retarded and usually die early in infancy.

A

Trisomy 13 (Patau syndrome)

Trisomy 18 (Edwards syndrome)

80
Q

Infants with Trisomy 21 (Down syndrome) are typically
_____________ and have ……

A

mentally retarded

characteristic facial features,
heart defects, intestinal anomalies, broad hands, but they survive and the palmer surface is marked by transverse simian crease.

81
Q

Structural abnormalities of chromosomes

A

Crossing over / recombination
Isochromosome formation

82
Q

Autosomal dominant conditions

A

Achondroplasia
Aniridia

Polycystic kidney disease
(adult onset, type III)

83
Q

If a baby has dwarfism caused mainly by shortening of limbs. What autosomal dominant condition do they have?

A

Achondroplasia

84
Q

If a baby has absence of or incomplete irises. What autosomal dominant condition do they have?

A

Aniridia

85
Q

If an adult has numerous cysts in the kidney. What autosomal dominant condition do they have?

A

Polycystic kidney disease ( adult onset type iii)

86
Q

AUTOSOMAL RECESSIVE CONDITIONS

A

Albinism
Polycystic kidney disease ( prenatal type i)

87
Q

If a baby has absence of pigmentation. What autosomal recessive condition do they have?

A

Albinism

88
Q

If a baby has numerous cysts in the kidney. What autosomal recessive condition do they have?

A

Polycystic kidney disease( prenatal type i)

89
Q

X-LINKED RECESSIVE CONDITIONS

A

Hemophilia
Hydrocephalus

90
Q

If a baby has defective blood clotting. What X linked recessive condition do they have?

A

Hemophilia

91
Q

If a baby has Hydrocephalus . What X linked recessive condition do they have?

A

Enlargement of cranium

92
Q

Types of infectious agents

A

Viruses, spirochetes, and protozoa

93
Q

VIRUSES

A

Rubella virus fetal
Cytomegalovirus

94
Q

SPIROCHETES

A

Treponema pallidum

95
Q

What disease is caused by Rubella virus fetal?

A

German measles

96
Q

What disease is caused by cytomegalovirus?

A

Cytomegalic inclusion disease

97
Q

What disease is caused by treponema pallidum?

A

Syphilis

98
Q

What disease is caused by toxoplasma gondii?

A

Toxoplasmosis

99
Q

Protozoa

A

Toxoplasma gondi

100
Q

If a baby is suffering from Cataracts, deafness, CVS defects, growth retardation. What disease is the cause?

A

German measles

101
Q

If a baby is suffering from Cephalic deformities, intrauterine growth retardation. What disease is the cause?

A

Cytomegalic inclusion disease

102
Q

If a baby is suffering from Dental anomalies, deafness, mental retardation, skin & bone lesions, meningitis. What disease is the cause?

A

Syphilis

103
Q

If a baby is suffering from Cephalic deformities, mental retardation, prematurity. What disease is the cause?

A

Toxoplasmosis

104
Q

If a mother is exposed to hyperthermia. What will happen to the baby?

A

Anencephaly, spina bifida, intellectual disability

105
Q

If a mother is exposed to ionizing radiation. What will happen to the baby?

A

Microcephaly, spina bifida, cleft palate, limb defects

106
Q

If a mother is exposed to alcohol. What will happen to the baby?

A

Growth & mental retardation, facial & trunk malformations

107
Q

If a mother is exposed to anticoagulants. What will happen to the baby?

A

Skeletal abnormalities, nasal hypoplasia, anomalies of eyes, neck, and CNS

108
Q

If a mother is exposed to anticonvulsants . What will happen to the baby?

A

Neural tube defects, mental retardation, poor growth, facial defects

109
Q

If a mother is exposed to antithyroid drugs . What will happen to the baby?

A

Fetal goiter, hypothyroidism

110
Q

When a mother is exposed to ____________ a variety of major anomalies occur throughout body

A

Chemotherapeutic agents

111
Q

When a mother is exposed to ___________ spontaneous abortion, prematurity, low birth weight, heart,
craniofacial, and neural tube defects happen to the fetus

A

Industrial solvents

112
Q

Exposure to lead will cause _________ and ________ in the baby

A

Growth retardation, neurological disorders

113
Q

When the mother is exposed to ________ heart anomalies may occur in the baby

A

Lithium

114
Q

What are the effects of the mothers exposure to organic mercury on the baby?

A

Mental retardation, cerebral atrophy, spasticity, blindness

115
Q

Pregnant women are not allowed to take retinoic acid to treat their acne. Why is that?

A

Because it will cause defects related to derivatives of neural crest of the fetus

116
Q

Exposure of the mother to ________ will cause Hearing loss, auditory nerve damage in the fetus.

A

Streptomycin

117
Q

Exposure to tetracycline results in

A

Hypoplasia and staining of tooth enamel, staining of bones

118
Q

Exposure to thalidomide causes

A

Limb defects, ear defects, cardiovascular anomalies

119
Q

Exposure to Valproic acid

A

Neural tube defects; heart, craniofacial, and limb anomalies

120
Q

Androgens cause

A

Masculinization of female genitalia, accelerated genital development in males

121
Q

Diethylstilbestrol causes

A

Malformation of the uterus, uterine tubes, and upper vagina; vaginal cancer; malformed testes

122
Q

_________________ causes various malformations; heart and neural defects most common

A

Maternal diabetes

123
Q

______________ causes Neural tube defects, heart defects, omphalocoele

A

Maternal obesity

124
Q

Screening tools..?

A

Maternal serum screening- Serum alpha fetoprotein

Amniocentesis

Chorionic villus sampling

125
Q

Chorionic villus sampling

A

Sample of chorion / placenta

126
Q

Amniocentesis

A

analyze sample of amniotic fluid

127
Q

What causes clubfoot?

A

Decrease or absence of amniotic fluid

128
Q

What is a teratogen?

A

an agent that can produce a congenital anomaly or raise the incidence of an anomaly in the population

129
Q

 Teratogenicity of an agent depends on

A

critical periods of development
amount of the agent or dose of the drug
genetic constitution (genotype) of the embryo

Embryology (6 decks)

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