Neonatal Care (incl. Intensive Treatment)
Common major structural malformations
Newborns with trisomies 18 and 13 were significantly more likely to have malformations of different organ systems (Table).1
|Central Nervous System||8%||11%|
|Ventricular Septal Defect (VSD)||31%||18%|
|Atrial Septal Defect (ASD)||11%||10%|
|Tetralogy of Fallot||4%||7%|
|Cleft Lip or Palate||7%||25%|
Table - Prevalence of common congenital malformations in newborns with trisomy 18 and trisomy 13 who were hospitalised in the US, 1988-2002
Parents who decide to continue with a pregnancy should have an opportunity to meet both with their obstetrician and a member of the neonatal team to discuss their baby's diagnosis and plans for delivery and aftercare.
Common issues after delivery include feeding difficulties, gastro-oesophageal reflux, apnoea and problems linked to congenital anomalies.
Management benefits from a multidisciplinary team to support both the child and the family.
Several series have recently looked at the use of intensive treatment.
- One Japanese group detailed 24 babies with trisomy 18 who received treatments including Caesarean, resuscitation by intubation, corrective surgery, mechanical ventilation and cardiovascular drugs but not cardiac surgery. Median survival time was 152.5 days with a one year survival rate of 25%. Two of these children were alive at 2 years of age, giving a survival rate of 8.3% at this stage.2
- Several smaller series have detailed outcomes for cardiac surgery in children with trisomy 13 and trisomy 183,4but further work in this area is needed to show if there is long term benefit.
- Pont SJ, Robbins JM, Gibson JB, Cleves MA, Tilford JM, Aitken ME. 2006. Congenital malformations among liveborn infants with trisomies 18 and 13. Am J Med Genet 140A:1749-1756.
- Kosho T, Nakamura T, Kawame H, Baba A, Tamura M, Fukushima Y. 2006. Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment. Am J Med Genet 140A:937-944
- Kaneko et al. 2008. Intensive cardiac management in patients with trisomy 13 or trisomy 18. Am J Med Genet 146A:1372-1380
- Graham et al. 2004. Effectiveness of cardiac surgery in trisomies 13 and 18. Am J Cardiol. 2004 Mar 15;93(6):801-3
Bhatt M, Roth SJ, Kumar RK, Gauvreau K, Nair SG, Chengode S, Shivaprakasha K, Rao SG. 2004 Management of infants with large, unrepaired ventricular septal defects and respiratory infection requiring mechanical ventilation. J Thorac Cardiovasc Surg. 2004 May;127(5):1466-73
Janvier A, Farlow B, Barrington K. 2016. Cardiac surgery for children with trisomies 13 and 18: Where are we now?. Semin Perinatol. 2016 Feb 1. pii: S0146-0005(15)00207-4. doi: 10.1053/j.semperi.2015.12.015. [Epub ahead of print]
Kosho T, Carey JC. 2016. Does medical intervention affect outcome in infants with trisomy 18 or trisomy 13?. Am J Med Genet A. 2016 Apr;170(4):847-9. doi: 10.1002/ajmg.a.37610. Epub 2016 Mar 8.