Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Module 203, Theme 2- Reproductive System, Fetal Development, Pregnancy and Birth > T2 L24 Congenital Abnormalities and Teratology > Flashcards

T2 L24 Congenital Abnormalities and Teratology Flashcards

1
Q

Define “congenital anomaly”

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

List alternative names for “congenital anomaly”

A
  • birth defects
  • clinical dysmorphologies
  • congenital anomaly
  • congenital malformation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Define “incidence”

A

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

NOTE: not able to identify ALL new cases (miscarriage etc) and unable to measure all pregnancies so prevalence is used instead

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is birth prevalence?

A

Birth prevalence means (fetal loss, stillbirth, TOPs (termination of pregnancies) and births) per 10,000 births

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

When can a congenital anomaly be identified?

A

May be identified prenatally, at birth, or sometimes may only be detected later in infancy, such as hearing defects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

How many newborns die within 4 weeks of birth every year, worldwide, due to congenital anomalies?

A

303,000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What impact can congenital anomalies have?

A

Contributes to long-term disability

Causes significant impacts on individuals, families, health-care systems, and societies.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are the most common, severe congenital anomalies?

A

Heart defects

Neural tube defects

Down syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What % of congenital anomalies have no known causes?

A

50%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What are the risk factors for congenital anomalies?

A

Genetic – inherited vs sporadic mutation. NB consanguinuity

Infectious – Rubella, Syphilis, Zika

Teratogens

Socio-economic / demographics - nutritional (eg folatic acid) or environmental factors, age

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What measures can be taken to protect against some congenital anomalies?

A

Vaccination (Rubella)

Adequate intake of folic acid or iodine through fortification of staple foods or supplementation

Appropriate Antenatal care

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What does consanguinity increase the risk of?

A

Increases the prevalence of rare genetic congenital anomalies

Nearly doubles the risk for neonatal and childhood death, intellectual disability and other anomalies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What % of of severe congenital anomalies occur in low- and middle-income countries?

A

94%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Why does a large proportion of congenital anomalies occur in in low- and middle-income countries?

A
  • lack of access to sufficient, nutritious foods by -pregnant women
  • an increased exposure to agents or factors such as infection and alcohol
  • poorer access to healthcare and screening
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What affect does advanced maternal age have on the risk of chromosomal abnormalities, including Down syndrome?

A

It increases the risk

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Which types of congenital abnormalities pose the greatest problems?

A
  • Congenital heart defects

- Chromosomal abnormalities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

How are structural abnormalities classified?

A

MALFORMATION: flawed development of a structure or organ (eg. transposition of the great arteries)

DISRUPTION: alteration of an already formed organ (due to a vascular event like poor blood supply e.g. bowel atresia)

DEFORMATION: alteration in structure caused by extrinsic pressures (mechanical eg talipes due to reduced liquor. Can also be caused by an amniotic band which constricts around the limb, preventing it from receiving enough blood supply)

DYSPLASIA: abnormal organisation of cells or tissues

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is a syndrome?

A

Multiple congenital abnormalities

Group of abnormalities due a single aetiology
e.g. single chromosomal/gene problem

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What is a sequence?

A

Multiple congenital abnormalities but as a consequence of one abnormality

e. g. Potters sequence:
- renal agenesis leading to oligohydramnios
- leading to skeletal deformities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What facial features does a Down syndrome (T21) child have?

A
  • small nose and flat nasal bridge/ flat face
  • large tongue that may stick outof mouth
  • eyes that slant upwards and outwards
  • a flat back of the head / thickened skin on the back of the neck
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What other external features does a Down syndrome child have?

A
  • broad hands with short fingers
  • single palmar crease
  • below-average weight and length at birth
23
Q

What other problems are associated with Down syndrome?

A
  • Cardiac defects
  • Duodenal atresia
  • Mild to moderate learning disability
24
Q

Why is the number of Down syndrome babies being born decreasing?

A

More people are choosing to abort their Down syndrome baby

25
Q

What facial abnormalities do Edward’s syndrome (T18) children have?

A
  • small
  • abnormally shaped head
  • small jaw and mouth
  • low-set ears
  • cleft lip/palate
26
Q

What skeletal abnormalities do Edward’s syndrome children have?

A
  • long fingers that overlap
  • underdeveloped thumbs
  • clenched fists
27
Q

What gastrointestinal abnormalities do Edward’s syndrome children have?

A
  • omphalocele
  • oesophageal atresia ± tracheo-oesophageal fistula
  • umbilical or inguinal hernia
  • pyloric stenosis

NOTE: Omphalocele occurs when the abdominal content grows outside the abdominal cavity

28
Q

What urogenital abnormalities do Edward’s syndrome children have?

A
  • gonadal dysgenesis
  • horseshoe kidney
  • hydronephrosis
  • cystic kidneys
  • renal agenesis
29
Q

What neurological problems do Edward’s syndrome children have?

A
  • anencephaly
  • hydrocephaly and other brain malformations
  • severe learning disability
  • seizures
30
Q

What % of Edward’s syndrome children will have congenital heart defects?

A

> 90%

NOTE: Edward syndrome children typically die within their first year

31
Q

What pulmonary abnormality do Edward’s syndrome children have?

A

Pulmonary hypoplasia

32
Q

What % of Patau’s syndrome children will have congenital heart defects?

A

> 80%

33
Q

What facial abnormalities do Patau’s syndrome (T13) children have?

A

cleft lip / palate

abnormally small eye or eyes (microphthalmia) or
absence of 1 or both eyes (anophthalmia)

reduced distance between the eyes (hypotelorism)

microcephaly

34
Q

What gastrointestinal abnormalities do Patau’s syndrome children have?

A

omphalocele
exomphalos

NOTE: Exomphalos is a weakness of the baby’s abdominal wall where the umbilical cord joins it. This weakness allows the abdominal contents, mainly the bowel and the liver to protrude outside the abdominal cavity where they are contained in a loose sac that surrounds the umbilical cord

35
Q

What CNS disorders do Patau’s syndrome children have?

A

holoprosencephaly (no septum between the brain) – single brain

36
Q

What skeletal abnormalities do Patau’s syndrome children have?

A

extra fingers or toes (polydactyly)

a rounded bottom to the feet (known as ‘rocker-bottom’ feet)

37
Q

When do babies with Patau’s syndrome typically die?

A

Within days of birth

38
Q

What is teratogen?

A

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

39
Q

Which teratogen can cause microcephaly?

A

Zika virus

40
Q

COMPLETE THE SENTENCE

Warfarin is a teratogenic _____ and it causes _________

A

Drug

Chondrodysplasia, microcephaly

41
Q

COMPLETE THE SENTENCE

_________ is a teratogenic ________ and it causes limb defects/heart defects

A

THALIDOMIDE

Drug

42
Q

What is rubella and what does it cause?

A

A virus

Causes rubella (deafness)

43
Q

What type of teratogenic agents are pesticides? What is their effect?

A

Chemicals

Causes neural tube defects

44
Q

What type of teratogenic agent is hyperthermia? What is its effect?

A

Physical agent

Causes fetal death, neural tube defects

45
Q

COMPLETE THE SENTENCE

Radiation is a teratogenic ________ and it causes ___________

A

Chemical

Microcephaly, spina bifida

46
Q

COMPLETE THE SENTENCE

_________ is a teratogenic ________ and it causes FAS (maxillary hypoplasia, mental retardation)

A

Alcohol

Chemical

47
Q

What type of teratogenic agent are androgens? What is their effect?

A

Hormone

Causes masculinisation of external genitalia

48
Q

What are the facial features of Foetal Alcohol Syndrome (FOS)?

A
  • epicanthal folds
  • flat nasal bridge
  • small palpebral fissures
  • “railroad track” ears
  • upturned nose
  • smooth philtrum
  • thin upper lip
49
Q

What % of congenital abnormalities are detected antenatally?

A

61%

50
Q

What % of congenital abnormalities are detected at birth?

A

8%

51
Q

What % of congenital abnormalities are detected at 2-4 weeks?

A

6%

52
Q

What % of congenital abnormalities are detected after the first month?

A

18%

53
Q

Why detect congenital abnormalities?

A

Termination
Treatment
Time Delivery: diabetes
Preparation for parents – eg. Downs group / support

54
Q

What treatment is available if congenital abnormalities are detected?

A

In utero (correction of): cleft palate/ pulmonary shunts /tumours, transfusions, balloon occlusion of diaphragmatic hernia

Maternal: Antibiotics (eg for toxoplasmosis)

Post-delivery: CHD deliver in tertiary centre for immediate surgery

Module 203, Theme 2- Reproductive System, Fetal Development, Pregnancy and Birth (17 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions