Perinatal features of Prader-Willi syndrome: a Chinese cohort of 134 patients

Lili Yang; Qiong Zhou; Bo Ma; Shujiong Mao; Yanli Dai; Mingqiang Zhu; Chaochun Zou

doi:10.1186/s13023-020-1306-z

Perinatal features of Prader-Willi syndrome: a Chinese cohort of 134 patients

Orphanet J Rare Dis. 2020 Jan 21;15(1):24. doi: 10.1186/s13023-020-1306-z.

Authors

Lili Yang¹, Qiong Zhou², Bo Ma³, Shujiong Mao⁴, Yanli Dai⁵, Mingqiang Zhu⁵, Chaochun Zou⁶

Affiliations

¹ Department of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.
² Department of Endocrinology and Metabolism, Hangzhou Children's Hospital, Hangzhou, China.
³ Department of Obstetrics and Gynecology, Tianjin Central Hospital of Gynecology Obstetrics, Tianjin, China.
⁴ Department of Pediatrics, Hangzhou First People's Hospital, Zhejiang University School of Medicine , Hangzhou, China.
⁵ Department of Endocrinology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, 3333 Binsheng Rd, Hangzhou 310052, China.
⁶ Department of Endocrinology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, 3333 Binsheng Rd, Hangzhou 310052, China. zcc14@zju.edu.cn.

Abstract

Background: Prader-Willi syndrome (PWS) is a rare and complex genetic disorder caused by lacking expression of imprinted genes on the paternally derived chromosome 15q11-q13 region. This study aimed to characterize the perinatal features of 134 Chinese individuals with PWS.

Methods: This study included the patients of a PWS registry in China. Anonymous data of 134 patients were abstracted. Perinatal and neonatal presentations were analyzed, and compared between the two PWS genetic subtypes. We also compared the perinatal features of PWS patients with the general population and other previous reported large cohorts from France, UK and USA.

Results: This study included 134 patients with PWS (115 patients with 15q11-q13 deletion and 19 with maternal uniparental disomy). Higher mean maternal age was found in this cohort (30.5 vs. 26.7), particularly in the maternal uniparental disomy (UPD) group (36.0 vs. 26.7) comparing with the general population. 88.6% of mothers reported a decrease of fetal movements. 42.5 and 18.7% of mothers had polyhydramnios and oligohydramnios during pregnancy, respectively. 82.8% of the patients were born by caesarean section. 32.1% of neonates had birth asphyxia, 98.5% had hypotonia and 97.8% had weak cry or even no cry at neonatal period. Feeding difficulty existed in 99.3% of the infants, 94.8% of whom had failure to thrive. 69.4% of the infants ever used feeding tube during hospitalization, however, 97.8% of them discontinued tube feeding after discharge. Maternal age and pre-pregnancy weight were significantly higher in the UPD group (both P < 0.05).

Conclusions: Differential diagnosis of PWS should be highlighted if infants having following perinatal factors including polyhydramnios, decreased intrauterine fetal movements, caesarean section, low birth weight, feeding difficulty, hypotonia and failure to thrive. Higher maternal age may be a risk factor of PWS, especially for UPD. Further studies are needed for elucidating the mechanism of PWS.

Keywords: Complication; Feature, perinatal; Prader-Willi syndrome.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cesarean Section
China
Chromosomes, Human, Pair 15 / genetics
Female
France
Humans
Infant
Infant, Newborn
Prader-Willi Syndrome* / genetics
Pregnancy
Uniparental Disomy / genetics