Apert Syndrome: The Importance of Prenatal Diagnosis and Maternal-Fetal Medicine Management

Apert syndrome is a rare congenital disorder whose diagnosis remains challenging because of its variable phenotypic expression.Craniosynostosis and symmetric syndactyly are two of the most commonly seen characteristics of this syndrome.We present the case of a 44-year-old multigravida (G5A3P1) who received regular prenatal visits and whose first-trimester ultrasound showed only one umbilical artery.Noninvasive prenatal testing (NIPT) indicated a low risk of common aneuploidies.During subsequent follow-up ultrasound studies, an abnormal cranial morphology was noted, and bilateral syndactyly was evident.After performing amniocentesis at 28 weeks of gestation, whole exome sequencing confirmed a pathogenic variant in the fibroblast growth factor receptor 2 (FGFR2) gene, thus establishing the diagnosis of Apert syndrome.At 32.5 weeks of gestation, the patient presented with reduced fetal movements, and a subsequent ultrasonographic assessment confirmed intrauterine fetal demise.At delivery, the stillborn fetus exhibited phenotypic findings consistent with Apert syndrome.An evaluation of the umbilical cord revealed a true knot.The present case highlights the importance of detailed fetal anatomical assessment by maternal-fetal medicine specialists, enabling appropriate parental counseling, as well as facilitating the development of a multidisciplinary perinatal plan.