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

T2 L24 Congenital abnormalities and teratology Flashcards

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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
What is deformation?
Alteration in structure caused by extrinsic pressures
26
What is dysplasia?
Abnormal organisation of cells or tissues
27
What are the features for Down's syndrome?
``` Facial features Other external features Cardiac defects Duodenal atresia Mild to moderate learning disability ```
28
What are the facial features for Down's syndrome?
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
What are some external features for Down's syndrome?
Broad hands with short fingers Single palmar crease Below-average weight and length at birth
30
What are the general features in Edwards syndrome?
``` Facial abnormalities Skeletal abnormalities Congenital heart defects GI abnormalities Urogenital abnormalities Neurological problems Pulmonary hypoplasia ```
31
What is the life expectancy in Edwards syndrome?
Usually die within 1st year of life
32
What are the facial features of Edwards syndrome?
Small, abnormally shaped head Small jaw and mouth Low set ears Cleft lip / palate
33
What are the skeletal features of Edwards syndrome?
Long fingers that overlap Underdeveloped thumbs Clenched fists
34
What are the GI features of Edwards syndrome?
``` Omphalocele Oesophageal atresia Trachea-oesophageal fistula Umbilical or inguinal hernia Pyloric stenosis ```
35
What are the urogenital abnormalities of Edwards syndrome?
``` Gonadal dysgenesis Horseshoe kidney Hydronephrosis Cystic kidneys Renal agenesis ```
36
What are the neurological problems in Edwards syndrome?
``` Anencephaly Hydrocephaly Other brain malformations Severe learning disability Seizures ```
37
What are the general features of Patau's syndrome?
``` Congenital heart defects Facial abnormalities GI abnormalities CNS disorder = holoprosencephaly Abnormally small penis or enlarged clitoris Skeletal abnormalities ```
38
What is the life expectancy of those with Patau's syndrome?
Usually die within days of birth
39
What are the facial features in Patau's syndrome?
``` Cleft lip / palate Abnormally small eye or eyes Absence of 1 or both eyes Reduced distance between the eyes Microcephaly ```
40
What are the GI abnormalities in Patau's syndrome?
Omphalocele | Exomphalos
41
What are the skeletal abnormalities in Patau's syndrome?
Extra fingers or toes | Rounded bottom to feet (rocker-bottom feet)
42
What are teratogens?
An agent such as a virus, drug or radiation that causes malformation of an embryo or foetus
43
Give examples of teratogens
``` Warfarin Thalidomide Rubella Pesticides Hyperthermia Radiation Alcohol Androgens ```
44
What is the type and effect of warfarin?
Drug | Chondrodysplasia microcephaly
45
What is the type and effect of thalidomide?
Drug | Limb defects / heart defectss
46
What is the type and effect of rubella?
Virus | Rubella (deafness)
47
What is the type and effect of pesticides?
Chemical | Neural tube defects
48
What is the type and effect of hyperthermia?
Physical agent | Fetal death, neural tube defects
49
What is the type and effect of radiation?
Chemical | Microcephaly, spina bifida
50
What is the type and effect of alcohol?
Chemical | FAS (maxillary hypoplasia mental retardation)
51
What is the type and effect of androgens?
Hormone | Masculinisation of external genitalia
52
What are the classic facial deformities in fetal alcohol syndrome?
``` Epicanthal folds Flat nasal bridge Small palpebral fissures Railroad track ears Upturned nose Smooth philtrum Thin upper lip ```
53
When are congenital abnormalities detected?
``` 61% detected antenatally 8% detected at birth 6% at 2-4 weeks 18% after first month Some not until adult life ```
54
How can congenital abnormalities be detected?
Pre-implantation genetic testing in IVF Diagnostic in utero tests AN screening program Ultrasound scans
55
What diagnostic tests are done in utero?
Amniocentesis | CVS
56
When are ultrasound scans done?
11+ weeks 20 weeks Third trimester
57
What is the 11+ week scan looking for?
Anencephaly | Major limb defects
58
What is the combined screening?
Done at 11+ week scan | Nuchal translucency combined with maternal biochemistry
59
What is the 20 week scan looking for?
Anomaly scan looking at: heart, brain/spine, skeletal, cleft lip, bowel, kidneys, movements
60
What are scans in the third trimester looking for?
Growth Organs Liquor volume Movements
61
What is the benefit of detecting congenital abnormalities?
Termination Treatment - in utero, maternal or post delivery Time of delivery Preparation for parents

Module 203 Reproduction & endocrinology (52 decks)

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