Maternal illness Risk of fetal malformation Maternal illness
- Slides: 21
Maternal illness Risk of fetal malformation
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 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 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 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 real? u Fetal thyrotoxicosis – Rare but preventable cause of hydrops u Fetal goitre – Differential diagnosis of neck mass
Fetal goitre
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 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 increase risk – Watch for rare causes such as Neurofibromatosis, tuberosclerosis
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
Haemoglobinopathy u Differential diagnosis of hydrops/ascites
Allo-immune disease u Differential – Hydrops – Brain malformation
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 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 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 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 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 agents in SLE or asthma u Immunosuppressants and transplant
Maternal disease and malformation u Rarely directly implicated u Ensure know aetiology of individual disease u Interaction with therapy
- Mitochondria non examples
- Extranuclear inheritance
- Fetal presentation
- Diameters of fetal skull
- Sub mento bregmatic
- Maternal pelvis and fetal skull
- Sanford maternal fetal medicine
- Onset of labour
- Chapter 15 maternal and fetal nutrition
- Wingspread classification of anorectal malformation
- Malformation des pieds
- Hemangioma arteriovenous malformation
- Chiari malformation usmle
- Chief complaint of colostomy
- Liquidity measures
- Business risk vs audit risk
- Inherent risks examples
- Risk financing adalah
- Risk avoidance insurance
- Attributable risk
- Business vs financial risk
- Absolute risk vs relative risk