A case report of Apert syndrome combined with tetralogy of Fallot
Objective Report a case of Apert syndrome combined with Fallot's tetrad.Methods A retrospective analysis was conducted on one case of Apert syndrome combined with Tetralogy of Fallot diagnosed by prenatal ultrasound in the Department of Obstetrics and Gynecology,the Air Force Hospital of Eastern Theater Command,and the whole exome sequencing was completed.Results In this paper,we retrospectively analyzed a pregnant woman with abnormal prenatal ul-trasound screening and high clinical suspicion of fetal Apert syndrome.Fetal amniotic fluid and umbilical cord blood were obtained for low-depth whole genome copy number variant sequencing and whole exome sequencing of the family lineage,and the pregnant woman was followed up for her reproduction status.Prenatal ultrasound screening of this pregnant woman suggested fetal malformations(prominent forehead,syndactyly,tetralogy of Fallot),and whole exome sequencing results suggested FGFR2(c.755C＞G)as a novo heterozygous variant,which was the pathogenic variant for Apert syndrome.Apert syndrome combined with tetralogy of Fallot was diagnosed by ultrasound combined with genetic testing.The pregnant woman was induced to deliver a female fetus after genetic counseling,and the phenotype was consistent with the prenatal ultrasound diagnosis.On follow-up,the case was re-conceived and delivered a healthy baby girl.Conclusion This article reports a rare case of Apert syndrome combined with tetralogy of fallot,which can provide reference for accurately identifying and diag-nosing Apert syndrome combined with tetralogy of Fallot in prenatal clinic,and predict the risk of pregnancy.
prenatal ultrasoundApert syndrometetralogy of Fallot
NETL
NSTL
万方数据
