RSS-Feed abonnieren
DOI: 10.1055/s-0036-1585083
The Effects of Turner Syndrome, 45,X on Obstetric and Neonatal Outcomes: A Retrospective Cohort Evaluation
Publikationsverlauf
25. Mai 2016
28. Mai 2016
Publikationsdatum:
01. Juli 2016 (online)
![](https://www.thieme-connect.de/media/ajp/201612/lookinside/thumbnails/10-1055-s-0036-1585083_160239-1.jpg)
Abstract
Objective This study aims to evaluate the perinatal and neonatal outcomes associated with prenatal diagnosis of 45,X, both with and without fetal cardiac anomalies.
Study Design A retrospective cohort of singleton pregnancies in California, 2005 to 2008, using vital statistics and International Classification of Diseases, Ninth Revision data, identifying prenatally diagnosed 45,X. Outcomes included preterm delivery, preeclampsia, intrauterine fetal demise (IUFD), cesarean section, small for gestational age (SGA), neonatal death, and infant death. Bivariate and multivariate analyses were used to compare pregnancies and neonates with and without 45,X. Prenatally diagnosed cardiac anomalies were also considered.
Results Of the 2,029,000 deliveries, 138 had prenatally diagnosed 45,X. Out of these 138 deliveries, 22 had a prenatally diagnosed cardiac anomaly. Compared with unaffected pregnancies, those with fetal 45,X had higher rates of preterm delivery (19.5 vs. 9.9%, p = 0.001), cesarean section (44.2 vs. 30.2%, p < 0.0001), and SGA (21.5 vs. 6.3%, p < 0.0001). The affected cohort had no IUFDs. Neonatal death was 14.5 times higher in the 45,X cohort (p < 0.0001). Of only infants with cardiac anomalies, neonatal death was significantly more likely in those with 45,X (p = 0.005). In adjusted analysis, risk of SGA (< 3rd percentile), neonatal death, and infant death remained increased for infants with 45,X while controlling for fetal cardiac anomalies.
Conclusion Prenatally diagnosed 45,X was associated with increased risk of cesarean section, and adverse neonatal outcomes, including mortality.
Note
Data for this report were presented at the 36th Annual Meeting of the Society for Maternal-Fetal Medicine; February 1–6, 2016; Atlanta, GA.
-
References
- 1 Gravholt CH, Juul S, Naeraa RW, Hansen J. Prenatal and postnatal prevalence of Turner's syndrome: a registry study. BMJ 1996; 312 (7022) 16-21
- 2 Hall JG, Gilchrist DM. Turner syndrome and its variants. Pediatr Clin North Am 1990; 37 (6) 1421-1440
- 3 Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet 1991; 87 (1) 81-83
- 4 Hook EB. Spontaneous deaths of fetuses with chromosomal abnormalities diagnosed prenatally. N Engl J Med 1978; 299 (19) 1036-1038
- 5 Lippe B. Turner syndrome. Endocrinol Metab Clin North Am 1991; 20 (1) 121-152
- 6 Kingston HM, Gokhale D. ABC of Clinical Genetics. 3rd ed. London: BMJ Books; 2002. :vii,120
- 7 Viuff MH, Stochholm K, Uldbjerg N, Nielsen BB, Gravholt CH. Danish Fetal Medicine Study Group. Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome. Hum Reprod 2015; 30 (10) 2419-2426
- 8 Ranke MB, Saenger P. Turner's syndrome. Lancet 2001; 358 (9278) 309-314
- 9 Ruiz C, Lamm F, Hart PS. Turner syndrome and multiple-marker screening. Clin Chem 1999; 45 (12) 2259-2261
- 10 Saenger P, Wikland KA, Conway GS , et al; Fifth International Symposium on Turner Syndrome. Recommendations for the diagnosis and management of Turner syndrome. J Clin Endocrinol Metab 2001; 86 (7) 3061-3069
- 11 Galderisi M, Nistri S, Mondillo S , et al; Working Group of Echocardiography, Italian Society of Cardiology. Methodological approach for the assessment of ultrasound reproducibility of cardiac structure and function: a proposal of the study group of Echocardiography of the Italian Society of Cardiology (Ultra Cardia SIC) part I. Cardiovasc Ultrasound 2011; 9: 26
- 12 Cramer JW, Bartz PJ, Simpson PM, Zangwill SD. The spectrum of congenital heart disease and outcomes after surgical repair among children with Turner syndrome: a single-center review. Pediatr Cardiol 2014; 35 (2) 253-260
- 13 Gravholt CH, Landin-Wilhelmsen K, Stochholm K , et al. Clinical and epidemiological description of aortic dissection in Turner's syndrome. Cardiol Young 2006; 16 (5) 430-436
- 14 Schoemaker MJ, Swerdlow AJ, Higgins CD, Wright AF, Jacobs PA ; United Kingdom Clinical Cytogenetics Group. Mortality in women with turner syndrome in Great Britain: a national cohort study. J Clin Endocrinol Metab 2008; 93 (12) 4735-4742
- 15 Lalatta F, Tint GS. Counseling parents before prenatal diagnosis: do we need to say more about the sex chromosome aneuploidies?. Am J Med Genet A 2013; 161A (11) 2873-2879
- 16 Reis PM, Punch MR, Bove EL, van de Ven CJ. Outcome of infants with hypoplastic left heart and Turner syndromes. Obstet Gynecol 1999; 93 (4) 532-535