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203: Reproductive system, fetal development, pregnancy and birth > Congenital abnormality > Flashcards

Congenital abnormality Flashcards

1
Q

Congenital abnormality definition

A

Any abnormality of:

  • Structure
  • Function
  • Metabolism

Present at BIRTH, causing mental or physical disability.

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2
Q

Teratogen

A

An agent (e.g drug of virus) that causes malformation of the embryo.

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3
Q

Most common cause of neonatal death

A

Preterm birth

Trauma + birth asphyxia (2nd)

Sepsis
(3rd)

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4
Q

Most common cause of congenital abnormality

A

Chromosomal (50.2%)

Cardiovascular

Limbs

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5
Q

Causes of congenital abnormality

A

Structural

Single gene mutation

Multifactorial

Nutritional (iodine, folic acid)

Teratogens

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6
Q

Prevalence of congenital abnormalities

A

2% (205/ 10,000)

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7
Q

Maternal age of fetal congenital abnormality

A

Under 20 and over 40 had higher prevalence of congenital abnormality

20-29 had lowest rate

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8
Q

Percentage of all congenital abnormalities detected prenatally

A

69%

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9
Q

Malformation

A

Abnormality in the development of an organ

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10
Q

Disruption

A

Alteration in an organ that has already formed.

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11
Q

Deformation

A

Altered structure due to extrinsic pressure

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12
Q

Dysplasia

A

Abnormal organisation of cells

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13
Q

Syndrome

A

Multiple congenital abnormalities arising from a single etiology.

Examples:

  • Down’s
  • Edward’s
  • Patau’s
  • Turner’s
  • Fragile X
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14
Q

Sequence

A

Multiple congenital abnormalities that arise from the consequence of a single abnormality.

Example
- Potter’s sequence from renal agenesis.

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15
Q

Down’s syndrome

A

Most common type of chromosomal congenital abnormality (25.6%)
- Trisomy 21

Features

  • CV defects
  • Mid-moderate intellectual disability
  • Facial features: small chin, slanted eyes, flat nose bridge
  • Duodenal atresia
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16
Q

Edward’s syndrome

A

Second most common chromosomal congenital abnormality
- Trisomy 18.

Features
- Facial abnormalities: small jaw, cleft palate, narrow eyefold

  • Skeletal abnormalities: microcephaly, prominent occiput,
  • Over 90%
    with heart defects
  • GI, urogenital abnormalities
  • Neurological problems
  • Pulmonary hypoplasia.

Prognosis: Die within first year

17
Q

Potter sequence

A

Sequence of congenital abnormalities arising from renal agenesis.

Includes
Oligohydramnios (amniotic fluid deficiency)
Skeletal deformities
18
Q

Patau’s syndrome

A

Congenital abnormality
- Trisomy 13

Features:

  • > 80% with CV defect
  • Facial and skeletal disorder
  • GI: omphalocele
  • Holoprosencephaly

Prognosis
- Dead within days of birth

19
Q

Congenital heart defects examples [3]

A

Patent ductus arteriosus

Atrial/ Ventricular septal defect

Coarctation of aorta (i.e T13)

20
Q

Gastrointestinal abnormalities in T18 [5]

A

Omphalocele

Oesophageal atresia

Treacho-oesophageal fistula

Umbilical/ Ingunal hernia

Pyloric stenosis

21
Q

Urogenital abnormalities in T18 [5]

A

Gonadal dysgenesis

Horseshoe kidney

Hydronephrosis

cystic kidneys

renal agenesis

22
Q

Week 10/11 ultrasound detection

A

Can identify

  • Anencephaly
  • Major limb defect
  • T21, 18 and 13
23
Q

Ultrasound 20 weeks detection

A

Detection of anomalies

  • Heart
  • Brain/ spine
  • Cleft lip/ palate
24
Q

Examples of teratogens

A

Androgens

Pesticides

Radiation

Rubella

Thalidomide

Warfarin

Hyperthermia

25
Q

Androgen as a teratogen

A

Hormone

  • Causes masculisation of external genitalia
  • I.e in CAH
26
Q

Pesticides as a teratogen

A

Chemical

- Causes neural tube defects

27
Q

Hyperthermia as a teratogen

A

Physical agent that can lead to fetal death or neural tube defects

28
Q

Radiation as a teratogen

A

Chemical that can lead to microcephaly, spina bifida

29
Q

Alcohol as a teratogen

A

Chemical agent that causes fetal alcohol syndrome

  • Maxillary hypoplasia
  • Mental retardation
30
Q

Warfarin as a teratogen

A

Drug that can lead to

  • Chondrodysplasia
  • Microcephaly
31
Q

Thalidomide as a teratogen

A

Drug that leads to limb defects and heart defects

32
Q

Rubella as a teratogen

A

Virus that can lead to congenital deafness

33
Q

Fetal alcohol syndrome

- Facial features

A

Epicanthal folds

Flat nasal bridge

Small palpebral fissures

Thin upper lip

Upturned nose

34
Q

Diagnostic tests for genetic abnormalities

A

Chorionic villus
- 9-12 weeks

Amniocentesis
- 15 weeks+

203: Reproductive system, fetal development, pregnancy and birth (23 decks)

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