Fetal Costello syndrome caused by a de novo mutation in HRAS gene: a case report

VernacularTitle:HRAS基因新发变异致胎儿Costello综合征1例
Author: Jing HE ¹ ; Yuying ZHUO ; Ting WU ; Xiuling DUAN ; Huan LIU ; Hongtao ZHANG
Author Information

1. 四川锦欣西囡妇女儿童医院超声科，成都　610000
Keywords: HRAS gene variation; Polyhydramnios; Fetal overgrowth
From: Chinese Journal of Perinatal Medicine 2024;27(11):952-955
CountryChina
Language:Chinese
Abstract: This article reports a case of prenatal diagnosis of fetal Costello syndrome. At 11 weeks of gestation, the fetal nuchal translucency thickness was 2.5 mm. At 26 +1 weeks of gestation, ultrasound indicated that the fetal abdominal circumference was significantly enlarged, suggesting fetal overgrowth. Subsequent regular ultrasound follow-ups revealed polyhydramnios, enlarged fetal kidneys, and macroglossia after 30 +5 weeks of gestation. Whole-exome sequencing of the family detected a c.34G>A(p.Gly12Ser) mutation in the fetal HRAS gene, which was pathogenic and not present in either parent. Based on clinical manifestations, the fetus was diagnosed with Costello syndrome. After genetic counseling, the pregnant woman opted for termination of the pregnancy.