Differences in prenatal and postnatal phenotypic evaluations in patients with congenital anomalies and known genetic diagnoses.

ObjectivesSignificant gaps exist in the understanding of the presentation of genetic conditions across the lifespan, particularly during the prenatal period. This study aimed to describe the limitations of prenatal phenotyping by detailing the differences between prenatal and postnatal evaluations of neonates with genetic conditions.Methods We conducted a retrospective chart review of neonates with genetic diagnoses who previously received a detailed prenatal phenotype evaluation by fetal ultrasound, MRI, and echocardiogram at the Cincinnati Children’s Fetal Care Center (CCFCC) between July 2018 and October 2022. Details of the prenatal and postnatal phenotypes were collected using Human Phenotype Ontology (HPO) terms to compare findings between the time points. ResultsBetween July 2018 and October 2022, there were 85 neonates with genetic diagnoses who were prenatally evaluated in the CCFCC; these patients either received diagnoses prenatally (n=38), postnatally (n=45), or differing diagnoses before and after birth (n=2). The number of HPO terms significantly increased after postnatal evaluation (mean: 8.45) compared to what was identified prenatally at time of referral (mean: 3.45) (p