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 |