Division of Genetics and Metabolism, Department of Pediatrics, University of California, Irvine, California, USA.
Division of Neonatology, Department of Pediatrics, University of California, Irvine, California, USA.
J Med Genet. 2018 Sep;55(9):594-598. doi: 10.1136/jmedgenet-2017-105118. Epub 2018 May 18.
Prader-Willi syndrome (PWS) is a complex genetic disorder associated with three different genetic subtypes: deletion of the paternal copy of 15q11-q13, maternal UPD for chromosome 15 and imprinting defect. Patients are typically diagnosed because of neonatal hypotonia, dysmorphism and feeding difficulties; however, data on the prenatal features of PWS are limited.
The aim of the study was to identify and compare frequencies of prenatal and neonatal clinical features of PWS among the three genetic subtypes.
Data from 355 patients with PWS from the Rare Diseases Clinical Research Network PWS registry were used to analyse multiple maternal and neonatal factors collected during an 8-year multisite study.
Among our cohort of 355 patients with PWS (61% deletion, 36% UPD and 3% imprinting defect) 54% were born by caesarean section, 26% were born prematurely and 34% with a low birth weight (frequencies 32%, 9.6% and 8.1%, respectively, in the general population). Fetal movements were reported as decreased in 72%. All babies were hypotonic, and 99% had feeding difficulties. Low Apgar scores (<7) were noted in 17.7% and 5.6% of patients, respectively, compared with 1% and 1.4%, respectively, in the general population. Maternal age and pre-pregnancy weight were significantly higher in the UPD group (p=0.01 and <0.001, respectively).
We found a higher rate of perinatal complications in PWS syndrome compared with the general population. No significant differences in the genetic subtypes were noted except for a higher maternal age and pre-pregnancy weight in the UPD subgroup.
普拉德-威利综合征（PWS）是一种复杂的遗传疾病，与三种不同的遗传亚型相关：父源 15q11-q13 缺失、母源 15 号染色体单亲二体和印迹缺陷。患者通常因新生儿低张力、畸形和喂养困难而被诊断；然而，关于 PWS 的产前特征的数据有限。
本研究旨在确定并比较三种遗传亚型中 PWS 的产前和新生儿临床特征的频率。
使用罕见疾病临床研究网络 PWS 注册处的 355 名 PWS 患者的数据，分析了 8 年多地点研究期间收集的多个母婴和新生儿因素。
在我们的 355 名 PWS 患者队列中（61%为缺失型、36%为 UPD 型和 3%为印迹缺陷型），54%为剖宫产分娩，26%为早产，34%为低出生体重（分别为普通人群的 32%、9.6%和 8.1%）。72%的患者报告胎儿运动减少。所有婴儿均为低张力，99%存在喂养困难。低 Apgar 评分（<7）分别见于 17.7%和 5.6%的患者，而普通人群中分别为 1%和 1.4%。与其他两个亚型相比，UPD 组的产妇年龄和孕前体重明显较高（p=0.01 和 <0.001）。
与普通人群相比，我们发现 PWS 综合征的围产期并发症发生率较高。除 UPD 亚组中产妇年龄和孕前体重较高外，各遗传亚型之间无显著差异。
