Department of Medicine and Surgery, University of Insubria, Varese, Italy.
Division of Auxology, Istituto Auxologico Italiano, Verbania, Italy.
Am J Med Genet A. 2019 Oct;179(10):2067-2074. doi: 10.1002/ajmg.a.61304. Epub 2019 Jul 30.
This is a retrospective multicenter nationwide Italian study collecting neonatal anthropometric data of Caucasian subjects with Prader-Willi syndrome (PWS) born from 1988 to 2018. The aim of the study is to provide percentile charts for weight and length of singletons with PWS born between 36 and 42 gestational weeks. We collected the birth weight and birth length of 252 male and 244 female singleton live born infants with both parents of Italian origin and PWS genetically confirmed. Percentile smoothed curves of birth weight and length for gestational age were built through Cole's lambda, mu, sigma method. The data were compared to normal Italian standards. Newborns with PWS showed a lower mean birth weight, by 1/2 kg, and a shorter mean birth length, by 1 cm, than healthy neonates. Females with a 15q11-13 deletion were shorter than those with maternal uniparental maternal disomy of chromosome 15 (p < .0001). The present growth curves may be useful as further traits in supporting a suspicion of PWS in a newborn. Because impaired prenatal growth increases risk of health problems later in life, having neonatal anthropometric standards could be helpful to evaluate possible correlations between the presence or absence of small gestational age and some clinical and metabolic aspects of PWS.
这是一项回顾性的多中心全国性意大利研究,收集了 1988 年至 2018 年间出生的白种人普拉德-威利综合征(PWS)新生儿的人体测量学数据。该研究的目的是为 36 至 42 孕周单胎 PWS 新生儿提供体重和身长的百分位图表。我们收集了 252 名男性和 244 名女性单胎活产儿的出生体重和出生身长,这些婴儿的父母均为意大利裔,且经基因证实患有 PWS。通过 Cole 的 lambda、mu、sigma 方法构建了胎龄别出生体重和身长的百分位平滑曲线。将数据与正常意大利标准进行了比较。与健康新生儿相比,患有 PWS 的新生儿的平均出生体重低 1/2 公斤,平均出生身长短 1 厘米。15q11-13 缺失的女性比 15 号染色体母体单亲二体(maternal uniparental disomy of chromosome 15,mUPD15)的女性更矮(p<0.0001)。目前的生长曲线可作为支持对新生儿 PWS 怀疑的进一步特征。由于产前生长受损会增加日后健康问题的风险,因此拥有新生儿人体测量标准可能有助于评估小胎龄的存在与否与 PWS 的某些临床和代谢方面之间的可能相关性。