Congenital abnormalities

Question 1

What are causes of congenital abnormalities?

Answer 1

Chromosomal - T21
Single gene - Achondroplasia, X - Colour blindness
Infection - Rubella, Toxoplasma, CMV, Parovirus
Maternal disease - DM, Epilepsy
Drugs and environment - Warfarin, Lithium, Alcohol, Smoking
Idiopathic
Multifactorial

Question 2

What is the fetal anomaly scan (18-20wks) to detect?

Answer 2

CNS malformations
Cardiac malformations
Thoracic malformations
Gastro and abdo wall malformations
Urogenital malformations
Skeletal malformations

Question 3

What are thoracic malformations?

Answer 3

• Space occupying lesions
• Pleural effusions congenita

Question 4

What are cardiac malformations?

Answer 4

• Standard view - transverse - 4 chambers
• Abnormal view

Question 5

What are CNS malformations?

Answer 5

• Neural tube defects - neural tissue exposed (anencephaly, cephalocele, spina bifida)
• Hydrocephalus - accumulation of CSF, enlarged lateral ventricle on scan

Question 6

What are urogenital malformations?

Answer 6

• Renal malformations - change in fluid
• Renal agenesis if b/l anhydramnios
• Infantile polycystic kidney
• Obstructive uropathy
• Tumours of kidney/adrenal glands

Question 7

What are skeletal malformations?

Answer 7

• Achondrogenesis
• Homozygous achondroplasia
• Perinatal type of Osteogenesis imperfecta

Question 8

What are gastro/abdo wall malformations?

Answer 8

• Gastrochisis - para umbilical
• Exomphalos - central defect
• Fetal ascites
• Obstruction
• Meconium peritonitis
• Cysts

Question 9

What can be seen on fetal scan which can be associated with chromosomal diseases?

Answer 9

• Cystic hygroma - fluid collection in fetal neck
• Cardiac defects
• Exomphalos
• Microcephaly
• Polydactyly