1] Division of Genetics and Metabolism, Department of Pediatrics, University of California, Irvine, Irvine, California, USA [2] Present address: Division of Medical Genetics and Metabolism, Department Pediatrics, Loma Linda University Medical Center, Loma Linda, California, USA (J.-A.G.); Fetal Diagnostic Center, Kapiolani Medical Center for Women and Children, Honolulu, Hawaii, USA (C.R.); Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA (S.D.).
Division of Genetics and Metabolism, Department of Pediatrics, University of California, Irvine, Irvine, California, USA.
Genet Med. 2014 Feb;16(2):164-9. doi: 10.1038/gim.2013.97. Epub 2013 Aug 8.
Prader-Willi syndrome is an imprinting disorder characterized by typical facial, physical, and cognitive/behavioral features, resulting from lack of paternally expressed genes on chromosome 15q11.2-q13. Studies have suggested an increased risk of other imprinting disorders in children conceived by assisted reproductive techniques. This study was designed to determine the association between assisted reproductive technology and Prader-Willi syndrome.
Data on individuals with Prader-Willi syndrome were collected from three distinct sources and the proportion of assisted reproductive technology births analyzed.
The proportions of assisted reproductive technology births in the Prader-Willi Syndrome Association (USA), Rare Diseases Clinical Research Network, and University of California, Irvine Medical Center populations were 1.0% (18/1,736), 1.0% (1/98), and 2.0% (1/50), respectively (overall 1.1%; population frequency for the United States was 1.0%). Of note, 2.4% (45/1,898) of participants were co-twins (11 born after assisted reproductive technology procedures); US twin frequency is 1.6% (P = 0.007). The proportion of individuals with maternal disomy 15/imprinting defects born after assisted reproductive technology was higher than that in the total sample, 55.6% (10/18) and 34.5% (431/1,250), respectively.
This study found no association between assisted reproductive technology and Prader-Willi syndrome. There was an increased frequency of twinning. The number of individuals with maternal disomy 15/imprinting defect was nearly double in the assisted reproductive technology group as compared with the total Prader-Willi syndrome participants.
普拉德-威利综合征是一种印记紊乱疾病，其特征为典型的面部、身体和认知/行为特征，由 15q11.2-q13 染色体上父源表达基因的缺失所致。研究表明，辅助生殖技术所孕育的儿童发生其他印记疾病的风险增加。本研究旨在确定辅助生殖技术与普拉德-威利综合征之间的关联。
从三个不同来源收集普拉德-威利综合征患者的数据，并分析辅助生殖技术出生的比例。
普拉德-威利综合征协会（美国）、罕见病临床研究网络和加利福尼亚大学欧文医学中心人群中辅助生殖技术出生的比例分别为 1.0%（18/1736）、1.0%（1/98）和 2.0%（1/50）（总体为 1.1%；美国人群的发生率为 1.0%）。值得注意的是，2.4%（45/1898）的参与者为同卵双胞胎（11 例为辅助生殖技术后出生）；美国双胞胎的频率为 1.6%（P=0.007）。辅助生殖技术后出生的具有 15 号染色体母体单亲二体/印记缺陷的个体比例高于总样本，分别为 55.6%（18/18）和 34.5%（431/1250）。
本研究未发现辅助生殖技术与普拉德-威利综合征之间存在关联。双胞胎的出现频率增加。与总普拉德-威利综合征患者相比，辅助生殖技术组中具有 15 号染色体母体单亲二体/印记缺陷的个体数量几乎增加了一倍。
