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Module 203 Reproduction & endocrinology > T2 L24 Congenital abnormalities and teratology > Flashcards

T2 L24 Congenital abnormalities and teratology Flashcards

1
Q

What is a congenital anomaly?

A

Abnormality of structure, function or disorder of metabolism that is present at birth and results in a physical or mental disability

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2
Q

What is congenital anomaly also known as?

A

Birth defects
Clinical dysmorphologies
Congenital malformation

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3
Q

What is teratology?

A

Study of causes and biological processes leading to abnormal development at fundamental and clinical level and appropriate measures for prevention.

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4
Q

What is incidence?

A

Number of new cases in a given population over a specific time period

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5
Q

What is birth prevalence?

A

Fetal loss, stillbirth, TOPs and births per 10,000 births

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6
Q

What is a syndrome?

A

Multiple congenital abnormalities due to a single aetiology

Example is Down’s syndrome

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7
Q

What is a sequence?

A

Multiple congenital abnormalities but as a consequence of one abnormality
Example is Potters sequence where you get renal agenesis leading to oligohydramnios leading to skeletal deformities.

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8
Q

How many newborns die from congenital anomalies within 4 weeks of birth every year?

A

303,000

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9
Q

What are the most common types of congenital anomalies?

A

Heart defects
Neural tube defects
Down’s syndrome

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10
Q

What are some risk factors for congenital anomalies?

A

Genetic - inherited vs sporadic mutation
Infectious
Teratogens
Socio-economic / demographics

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11
Q

What are some infectious causes of congenital anomalies?

A

Rubella
Syphilis
Zika

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12
Q

What is consanguinity and its effect on congenital anomalies?

A

Creating babies within the family
Increases the rare genetic congenital anomalies and nearly doubles the risk for neonatal and childhood death, intellectual disability and other anomalies.

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13
Q

How can we prevent some congenital anomalies?

A

Vaccination
Adequate intake of folic acid or iodine through fortification of staple foods or supplementation
Appropriate antenatal care

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14
Q

How can genes play a role in congenital anomalies?

A

Inherited genetic anomaly

Mutations during development

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15
Q

Describe the link between ethnicity and chromosomal abnormalities

A

Some ethnic communities have a comparatively high prevalence of rare genetic mutations such as cystic fibrosis and haemophilia C

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16
Q

Who should we screen for genetic disorders?

A

In high risk patients (those with previous recurrent pregnancy loss or family history for a particular problem)
In all patients through UK AN screening programme

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17
Q

What is the rate and chromosomal anomaly for Down’s syndrome?

A

25.6 per 10,000 chromosomal abnormalities

Trisomy 21

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18
Q

What is the rate and chromosomal anomaly for Edward’s?

A

7.6 per 10,000 chromosomal abnormalities

Trisomy 18

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19
Q

What is the rate and chromosomal anomaly for Patau’s?

A

2.2 per 10,000 chromosomal abnormalities

Trisomy 13

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20
Q

What is the rate and chromosomal anomaly for Turner’s?

A

3.2 per 10,000 chromosomal abnormalities

XO

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21
Q

What is the rate and chromosomal anomaly for Klinefelter’s?

A

0.4 per 10,000 chromosomal abnormalities

XXY

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22
Q

How can structural abnormalities be classified?

A

Malformation
Disruption
Deformation
Dysplasia

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23
Q

What is malformation?

A

Flawed development of a structure or organ

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24
Q

What is disruption?

A

Alteration of an already formed organ

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25
Q

What is deformation?

A

Alteration in structure caused by extrinsic pressures

26
Q

What is dysplasia?

A

Abnormal organisation of cells or tissues

27
Q

What are the features for Down’s syndrome?

A 
Facial features
Other external features
Cardiac defects
Duodenal atresia
Mild to moderate learning disability
28
Q

What are the facial features for Down’s syndrome?

A

Small nose and flat nasal bridge / flat face
Large tongue that may stick out of mouth
Eyes that slant upwards and outwards
Flat back of the head / thickened skin

29
Q

What are some external features for Down’s syndrome?

A

Broad hands with short fingers
Single palmar crease
Below-average weight and length at birth

30
Q

What are the general features in Edwards syndrome?

A 
Facial abnormalities
Skeletal abnormalities
Congenital heart defects
GI abnormalities
Urogenital abnormalities
Neurological problems
Pulmonary hypoplasia
31
Q

What is the life expectancy in Edwards syndrome?

A

Usually die within 1st year of life

32
Q

What are the facial features of Edwards syndrome?

A

Small, abnormally shaped head
Small jaw and mouth
Low set ears
Cleft lip / palate

33
Q

What are the skeletal features of Edwards syndrome?

A

Long fingers that overlap
Underdeveloped thumbs
Clenched fists

34
Q

What are the GI features of Edwards syndrome?

A 
Omphalocele
Oesophageal atresia
Trachea-oesophageal fistula
Umbilical or inguinal hernia
Pyloric stenosis
35
Q

What are the urogenital abnormalities of Edwards syndrome?

A 
Gonadal dysgenesis
Horseshoe kidney
Hydronephrosis
Cystic kidneys
Renal agenesis
36
Q

What are the neurological problems in Edwards syndrome?

A 
Anencephaly
Hydrocephaly
Other brain malformations
Severe learning disability
Seizures
37
Q

What are the general features of Patau’s syndrome?

A 
Congenital heart defects
Facial abnormalities
GI abnormalities
CNS disorder = holoprosencephaly 
Abnormally small penis or enlarged clitoris
Skeletal abnormalities
38
Q

What is the life expectancy of those with Patau’s syndrome?

A

Usually die within days of birth

39
Q

What are the facial features in Patau’s syndrome?

A 
Cleft lip / palate
Abnormally small eye or eyes
Absence of 1 or both eyes
Reduced distance between the eyes
Microcephaly
40
Q

What are the GI abnormalities in Patau’s syndrome?

A

Omphalocele

Exomphalos

41
Q

What are the skeletal abnormalities in Patau’s syndrome?

A

Extra fingers or toes

Rounded bottom to feet (rocker-bottom feet)

42
Q

What are teratogens?

A

An agent such as a virus, drug or radiation that causes malformation of an embryo or foetus

43
Q

Give examples of teratogens

A 
Warfarin
Thalidomide
Rubella
Pesticides
Hyperthermia
Radiation
Alcohol
Androgens
44
Q

What is the type and effect of warfarin?

A

Drug

Chondrodysplasia microcephaly

45
Q

What is the type and effect of thalidomide?

A

Drug

Limb defects / heart defectss

46
Q

What is the type and effect of rubella?

A

Virus

Rubella (deafness)

47
Q

What is the type and effect of pesticides?

A

Chemical

Neural tube defects

48
Q

What is the type and effect of hyperthermia?

A

Physical agent

Fetal death, neural tube defects

49
Q

What is the type and effect of radiation?

A

Chemical

Microcephaly, spina bifida

50
Q

What is the type and effect of alcohol?

A

Chemical

FAS (maxillary hypoplasia mental retardation)

51
Q

What is the type and effect of androgens?

A

Hormone

Masculinisation of external genitalia

52
Q

What are the classic facial deformities in fetal alcohol syndrome?

A 
Epicanthal folds
Flat nasal bridge
Small palpebral fissures
Railroad track ears
Upturned nose
Smooth philtrum
Thin upper lip
53
Q

When are congenital abnormalities detected?

A 
61% detected antenatally
8% detected at birth
6% at 2-4 weeks
18% after first month
Some not until adult life
54
Q

How can congenital abnormalities be detected?

A

Pre-implantation genetic testing in IVF
Diagnostic in utero tests
AN screening program
Ultrasound scans

55
Q

What diagnostic tests are done in utero?

A

Amniocentesis

CVS

56
Q

When are ultrasound scans done?

A

11+ weeks
20 weeks
Third trimester

57
Q

What is the 11+ week scan looking for?

A

Anencephaly

Major limb defects

58
Q

What is the combined screening?

A

Done at 11+ week scan

Nuchal translucency combined with maternal biochemistry

59
Q

What is the 20 week scan looking for?

A

Anomaly scan looking at: heart, brain/spine, skeletal, cleft lip, bowel, kidneys, movements

60
Q

What are scans in the third trimester looking for?

A

Growth
Organs
Liquor volume
Movements

61
Q

What is the benefit of detecting congenital abnormalities?

A

Termination
Treatment - in utero, maternal or post delivery
Time of delivery
Preparation for parents

Module 203 Reproduction & endocrinology (52 decks)

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