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目的:分析Prader-Willi综合征（PWS）患儿在围生期的临床特点，提高对本病的早期识别。方法:横断面研究。2019年9月至2020年3月由中国医学科学院北京协和医学院北京协和医院儿科在全国范围内入组经分子遗传学诊断明确的PWS患儿226例，收集临床资料包括出生胎龄、出生体重、胎动情况、胎位情况、羊水情况、出生方式、哭声、肌张力、喂养以及男性患儿是否存在隐睾等，分析中国PWS患儿围生期的临床特点，并根据出生方式、是否小于胎龄儿以及基因型进行亚组分析。对不同亚型的临床表现通过n t检验、χ2检验和Mann-Whitney n U检验进行统计学分析。n 结果:226例PWS患儿中男120例、女106例，小于胎龄儿有100例（44.2%）。最常见宫内表现为孕期胎动减少202例（89.4%），其他表现包括羊水增多71例（31.4%）、胎位异常58例（25.7%），共有185例（81.9%）患儿经剖宫产出生，且剖宫产出生的患儿更常伴有胎位异常表现［30.8%（57/185）比 2.4%（1/41），χ2=14.161，n P<0.01］。患儿出生后的异常表现则包括肌张力低下221例（97.8%）、哭声弱220例（97.3%）、男性隐睾116例（占全部120例男性患儿的96.7%）及喂养困难206例（91.2%）。父源缺失型有184例（81.4%），非缺失型患儿的母亲怀孕年龄相较于父源染色体缺失型的患儿母亲更大［（35±5）比（29±5）岁，n t=-6.591，n P<0.01］，也更易在孕期出现羊水过多的表现，差异均有统计学意义［47.6%（20/42）比27.7%（51/184）， χ2=6.286，n P=0.012］。n 结论:PWS患儿围生期的主要表现为肌张力低、哭声小、喂养困难、宫内胎动减少以及男性隐睾，并且行剖宫产出生的概率高。对有以上特征的新生儿，儿科医生应注意到PWS的可能性。基因型与表型关系方面，非缺失型PWS患儿更容易有羊水过多的表现。“,”Objective:To enhance the early recognition of Prader-Willi syndrome by summarizing the clinical characteristics of Prader-Willi syndrome (PWS) during perinatal period.Methods:Through a nationwide cross-sectional study in the Department of Pediatrics, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences,226 children diagnosed as PWS by molecular genetics were recruited from September 2019 to March 2020. Clinical data including fetuses Age, birth weight, fetal movement, fetal position, amniotic fluid, mode of bith, crying, muscle tension, feeding, and cryptorchidism were collected to analyze the clinical characteristics of Chinese PWS patients in the perinatal period, and according to the mode of birty, birth weight and genotypes to perform subgroup analysis. The clinical manifestations of different subtypes were statistically analyzed by n t test, χn 2 test or Mann-Whitney n U test.n Results:Among the 226 PWS patients, 120 were males, and 106 were females. Among them, 100 (44.2%) patients were small for gestational age. Decreased fetal movement was the most common manifestation 202 cases (89.4%) during pregnancy, and other manifestations included polyhydramnios 71 cases (31.4%) and abnormal fetal position 58 cases (25.7%). One hundred and eighty-five (81.9%) patients were delivered by cesarean section and the frequency of abnormal fetal position was significantly higher (30.8%(57/185) n vs. 2.4%(1/41),χ2=14.161,n P<0.01). As for abnormal manifestations after birth included hypotonia 221 cases (97.8%),220 cases (97.3%) showing weak crying, 116 cases among the total 120 males patients (96.7%) wanifested with cryptordnildism and 206 feeding difficulties (91.2%). In terms of genetic subtype, most of them (184/226, 81.4%) had a paternal deletion, while maternal age (35±5n vs. 29±5, n t=-6.591, n P<0.01) and the frequency of polyhydramnios (47.6% (20/42)n vs. 27.7% (51/185), χ2=6.286, n P=0.012) were significantly higher in the non-deletion group.n Conclusions:The main manifestations of PWS patients during the perinatal period are hypotonia, weak crying, feeding difficulties, decreased fetal movement, cryptorchidism and those patients are more likely to be born by cesarean section. In newborns with these characteristics, pediatricians should be aware of the possibility of PWS. In terms of the relationship between genotypes and phenotypes, polyhydramnios is more frequently observed in the non-deletion group.