Schut Pauline C, Ten Broek Clara M A, Cohen-Overbeek Titia E, Bugiani Marianna, Steegers Eric A P, Eggink Alex J, Galis Frietson
a Department of Obstetrics and Gynecology , Erasmus MC University Medical Center , Division of Obstetrics and Prenatal Medicine , Rotterdam , The Netherlands.
b Naturalis Biodiversity Center , Leiden , The Netherlands.
J Matern Fetal Neonatal Med. 2019 Jul;32(14):2280-2286. doi: 10.1080/14767058.2018.1431622. Epub 2018 Feb 5.
To assess the prevalence of an abnormal number of ribs in a cohort of fetuses and neonates with trisomy 21 and compare this with a subgroup of fetuses without anomalies.
Radiographs of 67 deceased fetuses, neonates, and infants that were diagnosed with trisomy 21 were reviewed. Terminations of pregnancy were included. The control group was composed of 107 deceased fetuses, neonates, and infants without known chromosomal abnormalities, structural malformations, infections or placental pathology. Cases in which the number of thoracic ribs or presence of cervical ribs could not be reliably assessed were excluded. The literature concerning vertebral patterning in trisomy 21 cases and healthy subjects was reviewed.
Absent or rudimentary 12th thoracic ribs were found in 26/54 (48.1%) cases with trisomy 21 and cervical ribs were present in 27/47 (57.4%) cases. This prevalence was significantly higher compared to controls (28/100, 28.0%, Χ(1) = 6.252, p = .012 and 28/97, 28.9%, Χ(1) = 10.955, p < .001, respectively).
Rudimentary or absent 12th thoracic ribs and cervical ribs are significantly more prevalent in deceased fetuses and infants with trisomy 21.
评估21三体胎儿和新生儿队列中肋骨数量异常的患病率，并与无异常的胎儿亚组进行比较。
回顾了67例诊断为21三体的死胎、新生儿和婴儿的X线片。包括妊娠终止病例。对照组由107例无已知染色体异常、结构畸形、感染或胎盘病理的死胎、新生儿和婴儿组成。排除无法可靠评估胸肋数量或存在颈肋的病例。回顾了有关21三体病例和健康受试者椎体模式的文献。
21三体病例中，26/54（48.1%）例存在第12胸肋缺如或发育不全，27/47（57.4%）例存在颈肋。与对照组相比，这一患病率显著更高（分别为28/100，28.0%，Χ(1) = 6.252，p = 0.012和28/97，28.9%，Χ(1) = 10.955，p < 0.001）。
在21三体的死胎和婴儿中，第12胸肋发育不全或缺如以及颈肋的患病率显著更高。
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