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Table 6 Possible investigations following a case of SUPC [135]

From: Apparent Life-Threatening Events (ALTE): Italian guidelines

1. Placenta pathology and microbiology
2. Maternal blood: Kleihauer (in case of anaemia), viral titres (if not previously performed)
3. Maternal vaginal swabs (if not previously performed)
4. Neonatal blood:
  4.1 Full blood count, coagulation, blood gas, renal and liver biochemistry, glucose, lactate, calcium, magnesium, ammonia, beta-hydroxybutyrate, amino acids, free fatty acids, acylcarnitine profile, urate, uric acid, culture, viral titres, blood spot for cardiolipin analysis
  4.2 Genetic testing:
   4.2.1 In case of suspicion of unrecognised hypoventilation /apnoea, a sample of DNA should be taken specifically to search for abnormalities of the PHOX2B gene
   4.2.2 Testing for mutations and copy number variation in MECP2 should be considered as it may be revealed as newborn encephalopathy and/or apnoeas and respiratory collapse
   4.2.3 Array-based comparative genomic hybridisation is a useful investigation that will replace conventional karyotyping in the near future as a method for detecting causative chromosomal deletions and duplications
5. Cerebrospinal fluid: biochemistry, culture, virology, lactate, amino acids including glycine
6. Urine: virology, toxicology, organic acids including orotic acid, amino acids including urinary sulphocysteine and urine to be retained for storage
7. Imaging: cranial ultrasound scan, MRI, renal/adrenal ultrasound scan, echocardiogram
8. ECG
9. Ophthalmoscopy
10. Skin biopsy for fibroblast culture
11. Muscle biopsy if unable to exclude neuromuscular or mitochondrial disorder
12. EEG