INTRODUCTION/BACKGROUND
Apert syndrome, a rare autosomal dominant disorder, poses challenges for prenatal diagnosis. Early diagnosis allows for informed decision-making and appropriate management, including genetic counseling and potential termination of pregnancy if desired by the parents.
RESULTS
METHODS
We present a case of suspected Apert syndrome diagnosed at 31 weeks of gestation. The diagnosis was facilitated by 3D ultrasound imaging, which was instrumental in guiding parental counseling following the discovery of severe polyhydramnios.

We report the case of a 37-year-old, Gravida 1, Para1, with a history of primary infertility for 7 years, who achieved spontaneous pregnancy. The second-trimester triple test showed a low risk for Trisomy 21, 18, 13, and neural tube defects. The second-trimester ultrasound was missed. At 31 weeks of gestation, a morphological study was performed following the discovery of severe polyhydramnios. It revealed the presence of midface hypoplasia with a prominent forehead (figure1), low-set ears(figure 2), hypertelorism , bilateral syndactyly of both hands (mitten hands appearance) (figure 3), and deformed feet (figure 4).
Genetic testing on an amniotic fluid sample concluded the presence of a heterozygous mutation in the FGFR2 gene (Fibroblast Growth Factor Receptor 2) specific to Apert syndrome. After informed consent, the parents decided to terminate the pregnancy. The morphological appearance of the fetus was characteristic of Apert syndrome and very similar to 3D ultrasound images (Figure 5).