Thrombocytopenia during the First Week of Life among Neonates with Down Syndrome: Data from Multihospital Healthcare Systems

Document Type : Review Article

Authors

1 Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran

2 Department of Pediatrics, Mashhad University of Medical Sciences (MUMS), Iran

Abstract

Background: A fault in chromosome distribution during cell division leads to aneuploidy, which can be associated with thrombocytopenia. Various hematological abnormalities have been reported among neonates with Down syndrome (DS). Neutrophilia, thrombocytopenia and polycythemia were the most common hematological abnormalities observed among neonates with Down syndrome. In particular, thrombocytopenia below 150×109/L was found approximately in two-third of DS and 6% of counts below 50,000 was detected during the first week of life.The exact mechanism remains unknown, but is thought to be due to decreased platelet production from chronic fetal hypoxia. fetal hypoxia also leads to intrauterine growth retardation and suboptimal response of thrombopoitin system (TPO) to thrombocytopenia in DS during the neonatal period. Few cases of alloimmune thrombocytopenia with DS due to anti-HPA antibody were reported.
Methods: Data from multihospital healthcare systems shows large two case series of infants with cytogenetically confirmed DS and a reference group infants without birth defects all born during the period 2009-2015. During this period, 145,522 live births were recorded at 18 hospitals. Down syndrome was recognized in 226 newborn (1 in 644). Data were analyzed using multivariate logistic regression analysis expressed as adjusted odds ratio (aORs) with 95% confidence intervals (95% CIs).
Results & Conclusion: Infants with DS had a significantly higher risk for thrombocytopenia (aOR = 32.4). Platelet counts in DS averaged 104600 per microliter. The mean platelet volume did not correlate with the platelet count, but tended to run slightly large (9.2 +/- 1.3 fl). Persistence of thrombocytopenia beyond 8 to 12 weeks after birth should warrant a hematology consult. Thrombocytopenia can be seen associated with some types of congenital heart defects. Karyotype testing should be done in all obviously dysmorphic infants with thrombocytopenia. It seems reasonable to recommend that one or more CBCs be obtained on all neonates with Down syndrome.

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1. Fernandes CJ, Mahoney Jr DH. Causes of neonatal thrombocytopenia. New York: UpToDate; 2017. 2. Toshihico N, Tomoaki N, Takashi K, Hidehiro T, Daisuke H, Kusakari M, et al. Down syndrome with neonatal alloimmune thrombocytopenia due to HLA-A2 antibody. Fukoshima J Med Sci. 2015; 61(2):149-54.
 3. Henry E, Walker D, Wiedmeier SE, Christensen RD. Hematological abnormalities during the first week of life among neonates with down syndrome: data from a multihospital healthcare system. Am J Med Genet A. 2007; 143A(1):42-50.
4. Hord JD, Gay JC, Whitlock JA. Thrombocytopenia in neonates with trisomy 21. Arch Pediatr Adolesc Med. 1995; 149(7):824-5.
5. Miller M, Cosgriff JM. Hematological abnormalities in newborn infants with Down syndrome. Am J Med Genet. 1983; 16(2):173-7.
6. Tahani Ali Bin A. Hematological manifestation in Down syndrome. Int J Biotech Bioeng. 2017; 6(3):171-5.
7. Castle V, Andrew M, Kelton J, Giron D, Johnston M, Carter C. Frequency and mechanism of neonatal thrombocytopenia. J Pediatr. 1986; 108(5 Pt 1): 749-55.
8. Hohlfeld P, Forestier F, Kaplan C, Tissot JD, Daffos F. Fetal thrombocytopenia: a retrospective survey of 5,194 fetal blood samplings. Blood. 1994; 84(6):1851-6.
9. Matsubara K, Nigami H, Yura K, Inoue T, Isome K, Fukaya T. Serum thrombopoietin level and thrombocytopenia during the neonatal period in infants with Down's syndrome. J Perinatol. 2010; 30(2):98-102.
10. Henry E, Walker D, Wiedmeier SE, Christensen RD. Hematological abnormalities during the first week of life among neonates with Down syndrome: data from a multihospital healthcare system. Am J Med Genet A. 2007; 143A(1):42-50.
11. Webb D, Roberts I, Vyas P. Haematology of Down syndrome. Arch Dis Child Fetal Neonatal Ed. 2007; 92(6):F503-7.
12. Thüring W, Tönz O. Neonatal thrombocyte values in children with Down's syndrome and other autosome trisomies. Helv Pediatr Acta. 1979; 34(6):545-55.
 13. Rosen T, D’Alton ME. Down syndrome screening in the first and second trimesters: what do the data show? Semin Perinatol. 2005; 29(6):367-75.
 14. Lin AE, Basson CT, Goldmuntz E, Magoulas PL, McDermott DA, McDonald-McGinn DM, et al. Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management. Genet Med. 2008; 10(7):469-94.
 15. Gamis AS, Smith FO. Transient myeloproliferative disorder in children with Down syndrome: clarity to this enigmatic disorder. Brit J Haematol. 2012; 159(3):277-87.