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What are the common ultrasound features that may be seen in trisomy 18?
What is the sensitivity and specificity of NIPT for trisomy 18?
What are some of the disadvantages of NIPT in this situation?
What counselling would one provide around the likely in-utero and neonatal course for this infant?
Would the mother be able to have a termination of pregnancy, if she requested this, after 24 weeks’ gestation?
Sharing here few of the essential reading references for week 1 topics:
Cereda, A. and Carey, J.C. (2012). The trisomy 18 syndrome. Orphanet Journal of Rare Diseases, 7(1), pp. 1–14. Available at: https://doi.org/10.1186/1750-1172-7-81
McDonald-McGinn, D.M., Sullivan, K.E., Marino, B., Philip, N., Swillen, A., Vorstman, J.A., Zackai, E.H., Emanuel, B.S., Vermeesch, J.R., Morrow, B.E. and Scambler, P.J. (2015). 22q11.2 deletion syndrome. Nature Reviews Disease Primers, 1(1), pp. 1–19. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4900471/
Public Health England (2021). Down’s syndrome, Edwards’ syndrome and Patau’s syndrome. Available at: https://www.gov.uk/government/publications/screening-tests-for-you-and-your-baby/downs-syndrome-edwards-syndrome-and-pataus-syndrome-combined-or-quadruple-test-taken-on-or-after-1-june-2021
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