Trisomy 18 Pregnancies: Is there an Increased Maternal Risk?
28 April 2017
28 April 2017
02 June 2017 (eFirst)
Objective Characterize the impact of a trisomy 18 (T18) fetus on maternal and obstetric outcomes in a cohort including T18-affected deliveries.
Study Design Retrospective cohort study of singleton deliveries in California from 2005 to 2008 using linked vital statistics and the International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9) data to compare deliveries affected by T18 to those without known aneuploidy. Outcomes of interest included gestational diabetes mellitus (GDM), preterm delivery (PTD), preeclampsia, cesarean delivery (CD), and intrauterine fetal demise (IUFD). The χ2 and paired t-tests were used to compare the outcomes. Multiple logistic regression was used to further characterize these risks and control potential confounders.
Results Of 2,029,000 deliveries, 298 involved T18. Compared with unaffected deliveries, T18 was associated with GDM (10.7 vs. 6.5%, p = 0.003), PTD < 37 (40.6 vs. 9.9%, p < 0.001) and < 32 weeks (14.8 vs. 1.4%, p < 0.001), and cesarean section (56 vs. 30.2%, p < 0.001), but not preeclampsia. In adjusted analyses, T18 pregnancies were associated with an increased risk of PTD < 37 and < 32 weeks (adjusted odds ratio [AOR]: 5.48, 95% confidence interval [CI]: 4.29, 6.99; AOR: 10.4, 95% CI: 7.26, 14.8), and an increased odd of CD for primiparous and multiparous women (AOR: 2.41, 95% CI: 1.48, 3.91; AOR: 5.42, 95% CI: 3.90, 7.53). Risk of GDM did not persist.
Conclusion Unlike trisomy 13 (T13), pregnancies complicated by fetal T18 did not appear to result in an increased risk of preeclampsia. However, there is an increased risk of a range of other obstetric complications.
Though not associated with an increased risk of preeclampsia, T18 pregnancies are 2.5 times more likely be delivered by cesarean, and 10 times more likely to deliver at less than 32 weeks.
This article was presented in part as a poster at the 37th Annual Society of Maternal Fetal Medicine Meeting in 2017, Las Vegas, Nevada.
- 1 Crider KS, Olney RS, Cragan JD. Trisomies 13 and 18: population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994-2003. Am J Med Genet A 2008; 146A (07) 820-826
- 2 Lakovschek IC, Streubel B, Ulm B. Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis. Am J Med Genet A 2011; 155A (11) 2626-2633
- 3 Rosa RF, Rosa RC, Zen PR, Graziadio C, Paskulin GA. Trisomy 18: review of the clinical, etiologic, prognostic, and ethical aspects. Rev Paul Pediatr 2013; 31 (01) 111-120
- 4 Bruns DA. Neonatal experiences of newborns with full trisomy 18. Adv Neonatal Care 2010; 10 (01) 25-31
- 5 Cereda A, Carey JC. The trisomy 18 syndrome. Orphanet J Rare Dis 2012; 7: 81 . Doi: 10.1186/1750-1172-7-81
- 6 Russo FM, Pozzi E, Verderio M. , et al. Parental counseling in trisomy 18: novel insights in prenatal features and postnatal survival. Am J Med Genet A 2016; 170A (02) 329-336
- 7 Meyer RE, Liu G, Gilboa SM. , et al; National Birth Defects Prevention Network. Survival of children with trisomy 13 and trisomy 18: a multi-state population-based study. Am J Med Genet A 2016; 170A (04) 825-837
- 8 Nelson KE, Rosella LC, Mahant S, Guttmann A. Survival and surgical interventions for children with trisomy 13 and 18. JAMA 2016; 316 (04) 420-428
- 9 Baty BJ, Jorde LB, Blackburn BL, Carey JC. Natural history of trisomy 18 and trisomy 13: II. psychomotor development. Am J Med Genet 1994; 49 (02) 189-194
- 10 Irving C, Richmond S, Wren C, Longster C, Embleton ND. Changes in fetal prevalence and outcome for trisomies 13 and 18: a population-based study over 23 years. J Matern Fetal Neonatal Med 2011; 24 (01) 137-141
- 11 Tonks AM, Gornall AS, Larkins SA, Gardosi JO. Trisomies 18 and 13: trends in prevalence and prenatal diagnosis - population based study. Prenat Diagn 2013; 33 (08) 742-750
- 12 Bower C, Stanley F, Walters BN. Pre-eclampsia and trisomy 13. Lancet 1987; 2 (8566): 1032 . Doi: 10.1016/S0140-6736(87)92519-0
- 13 Tuohy JF, James DK. Pre-eclampsia and trisomy 13. Br J Obstet Gynaecol 1992; 99 (11) 891-894
- 14 Subramaniam A, Jacobs AP, Tang Y. , et al. Trisomy 18: a single-center evaluation of management trends and experience with aggressive obstetric or neonatal intervention. Am J Med Genet A 2016; 170A (04) 838-846
- 15 Houlihan OA, O'Donoghue K. The natural history of pregnancies with a diagnosis of trisomy 18 or trisomy 13; a retrospective case series. BMC Pregnancy Childbirth 2013; 13: 209 . Doi: 10.1186/1471-2393-13-209
- 16 Kosho T, Nakamura T, Kawame H, Baba A, Tamura M, Fukushima Y. Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatment. Am J Med Genet A 2006; 140 (09) 937-944
- 17 Dotters-Katz SK, Kuller JA, Grace MR, Laifer SA, Strauss RA. Management considerations for ongoing pregnancies complicated by trisomy 13 and 18. Obstet Gynecol Surv 2016; 71 (05) 295-300
- 18 Brewer CM, Holloway SH, Stone DH, Carothers AD, FitzPatrick DR. Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers. J Med Genet 2002; 39 (09) e54 . Doi: 10.1136/jmg.39.9.e54
- 19 Parker SE, Mai CT, Canfield MA. , et al; National Birth Defects Prevention Network. Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006. Birth Defects Res A Clin Mol Teratol 2010; 88 (12) 1008-1016