Maternal illness Risk of fetal malformation Maternal illness

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Maternal illness Risk of fetal malformation

Maternal illness Risk of fetal malformation

Maternal illness Key areas u Does the condition itself produce risk? u Does illness

Maternal illness Key areas u Does the condition itself produce risk? u Does illness presenting during pregnancy produce risk? u Risks of treatment v risk of disease

Pre-existing disease and risk of malformation u Diabetes u Respiratory disease u Renal disease

Pre-existing disease and risk of malformation u Diabetes u Respiratory disease u Renal disease u Neurological disease u Hypertensive disease u Connective tissue disease u Endocrine disease u Haematological disease

Diabetes u Rate of major malformations 41. 8 per 1000 (CEMACH 2005) u Excess

Diabetes u Rate of major malformations 41. 8 per 1000 (CEMACH 2005) u Excess of neural tube defects u Excess of congenital heart defects – Disproportionately high rate of conotruncal abnormalities Type 1 and Type 2 diabetes

Diabetes u Clear relationship between degree of periconception control and malformation rate – Near

Diabetes u Clear relationship between degree of periconception control and malformation rate – Near linear relation between Hb. A 1 c and risk malformation u Mechanism of production of malformation not simple – Both hyper and hypoglycaemia may be involved

Endocrine disease u Undiagnosed hypothyroidism in the first trimester and microcephaly – Is it

Endocrine disease u Undiagnosed hypothyroidism in the first trimester and microcephaly – Is it real? u Fetal thyrotoxicosis – Rare but preventable cause of hydrops u Fetal goitre – Differential diagnosis of neck mass

Fetal goitre

Fetal goitre

Respiratory disease u Asthma – No known link between disease and malformation u Cystic

Respiratory disease u Asthma – No known link between disease and malformation u Cystic fibrosis – Other than risk CF, no obvious additional risk from respiratory problems of disease itself u Pneumonia – Exclude VZV, HIV

Renal disease No data that links renal disease itself with increased risk of congenital

Renal disease No data that links renal disease itself with increased risk of congenital malformation u Specific causes of renal disease may increase risk fetal malformation u – Adult polycystic disease – Familial renal dysplasia – Chronic pyelonephritis/reflux and family history – Apert’s disease and other rare genetic causes Always make sure you know aetiology of renal disease

Neurological disorders u Epilepsy – Unless genetic or syndromal cause, epilepsy itself does not

Neurological disorders u Epilepsy – Unless genetic or syndromal cause, epilepsy itself does not increase risk – Watch for rare causes such as Neurofibromatosis, tuberosclerosis

Neurological disorders u Multiple sclerosis u Muscular dystrophies u Neurodegenerative disease Other than genetic

Neurological disorders u Multiple sclerosis u Muscular dystrophies u Neurodegenerative disease Other than genetic recurrence risks no known association

Haematological disease u Haemoglobinopathies u Allo-immune u Cancer disease

Haematological disease u Haemoglobinopathies u Allo-immune u Cancer disease

Haemoglobinopathy u Differential diagnosis of hydrops/ascites

Haemoglobinopathy u Differential diagnosis of hydrops/ascites

Allo-immune disease u Differential – Hydrops – Brain malformation

Allo-immune disease u Differential – Hydrops – Brain malformation

Connective tissue disease u Rheumatoid arthritis u SLE u Behcet’s disease u Sjogren’s syndrome

Connective tissue disease u Rheumatoid arthritis u SLE u Behcet’s disease u Sjogren’s syndrome

Anti-RNA antibodies Ro and La u Antibodies most likely where SLE or Sjogren’s syndrome

Anti-RNA antibodies Ro and La u Antibodies most likely where SLE or Sjogren’s syndrome or where unspecified disease u Risk of congenital heart block – 2% of anti-Ro, 3% if both – Up to 40% mortality in first year – Small risk structural disease

New maternal illness during pregnancy u Syphilis u Viral infection – Various congenital syndromes

New maternal illness during pregnancy u Syphilis u Viral infection – Various congenital syndromes u Conditions – Risk of of causing hypoxia acquired cerebral malformation ischaemic lesions (gut, renal)

Therapeutic drugs and malformation What data is available from animal studies and how applicable

Therapeutic drugs and malformation What data is available from animal studies and how applicable is this? u Are theoretical reasons why the drug might be harmful even if no data? u What are the human data and how was it collected? u Are there alternatives that might be safer? u What are the risks to mother and fetus of stopping/changing? u

Examples of bad science u Steroids and cleft – Animal work, wrong steroid, placental

Examples of bad science u Steroids and cleft – Animal work, wrong steroid, placental barrier u Metformin – Never proven risk, blanket ban may have actually increased risk in type 2 diabetes u Anticonvulsants – Reassuring animal work not translated to human studies

Consequences of stopping u ACE inhibitors and diabetic nephropathy u Antithyroid medication u Anti-cytokine

Consequences of stopping u ACE inhibitors and diabetic nephropathy u Antithyroid medication u Anti-cytokine agents in SLE or asthma u Immunosuppressants and transplant

Maternal disease and malformation u Rarely directly implicated u Ensure know aetiology of individual

Maternal disease and malformation u Rarely directly implicated u Ensure know aetiology of individual disease u Interaction with therapy