*Birth Anomalies

Question 1

Types of congenital abnormalities

Answer 1

Chromosomal abnormalities
Mitochondrial DNA disorders
Single gene defect
Teratogenic causes
Multifactorial causes
Unknown causes

Question 2

Examples of chromosomal abnormalities

Answer 2

• Achondroplasia - Dwarfism
• Trismony 21 - Down Syndrom
• Trisomy 18 - Edward’s Syndrome
• Trisomy 13 - Patau Syndrome
• Turner Syndrome (XO)

Question 3

Example of teratogenic anomalies

Answer 3

Fetal alcohol syndrome - mental and physical defects (e.g. IUGR, microcephaly - small head), flat facies, close-set eyes, epichanthal folds, small upturned nose, thin upper lip, low set ears, learning difficulties

Postnatally: acute withdrawal symptoms and approrpiate supportive therapies (NAS scoring and GDLs), support and counselling for parents, collaboration with social services

Question 4

Teratogenic causes

Any agent that raises the incidence of congenital abnormality

Answer 4

Anticonvulsants
Anticoagulants
Preparations with large doses of Vit A
Drugs e.g. heroin, alcohol, nicotine
Environmental factors e.g. radiation, chemicals like pesticides
Infective agains e.g. rubella, cytomegalovirus
Maternal disease e.g. diabetes

Question 5

When breaking the news to partents …

Answer 5

MW tell both parents sensitvely but honestly that there are concerns
Show them any obvious abnormality
Skin to skin
Paed review - MW to be present with parents
* MW can then clarigy or repeat any points not fully understood
* Follow up consult with Paed should be offered as and when parents desire
Counselling and commuication skills