Meticulous morphological assessment and correlation with genomics in diagnosing a rare genetic syndrome in the second trimester: a case report of Apert syndrome

Whilst modern imaging modalities have far advanced antenatal diagnoses, the perinatal autopsy remains gold standard in confirming and assessing fetal dysmorphology. The presence of multiple abnormalities involving several organ systems raises clinical suspicion an underlying genetic syndrome. Our case involves a nulliparous woman her third decade life with unmarkable medical familial history. She had low-risk maternal serum screening test however first trimester obstetric ultrasound scan identified abnormalities. These were better visualised on early morphology comprised complex cardiac defects, aduplex right kidney clenched fists. Antenatal chromosomal microarray FISH for 22q deletion no pathogenic variants. underwent termination pregnancy prior to 20 weeks gestation baby was referred autopsy. Meticulous examination revealed upper limb syndactyly webbing lower digits, double outlet ventricle, hypoplastic left ventricle atrium, dilatation renal pelvis. placenta large dates. No or placental histological found. Exome sequencing variant FGFR2 keeping Apert syndrome, rare diagnosis correlating phenotypical confirmed at