Phenotypic Features of Fourteen Fetal Cases With a PTEN Variant

To present the prenatal sonographic features, genomic findings, and pregnancy outcomes of fetuses diagnosed in utero with a PTEN variant.

This retrospective study analyzed 14 cases of PTEN variants identified through prenatal ultrasound and subsequently confirmed by genetic testing. Clinical and laboratory data were collected for these cases, encompassing maternal demographics, prenatal sonographic findings, molecular testing results, and pregnancy outcomes.

A total of 14 fetuses with (likely) pathogenic PTEN variants were included in the study. Five cases exhibited abnormalities on second-trimester ultrasound scans; specifically, three presented with macrocephaly, one showed mild ventriculomegaly, and another had cardiac defects (coarctation of the aorta and ventricular septal defect). Nine additional cases were identified during the third trimester. Among these nine cases, six displayed macrocephaly with or without polyhydramnios and ventriculomegaly; one case had mild ventriculomegaly; another presented only with mild polyhydramnios; and one was characterized by macrosomia. Eleven cases involved de novo variants, whereas three variants were inherited from parents.

Macrocephaly emerged as the most prevalent sign observed in utero that prompted genetic detection of PTEN defects. This study encourages obstetricians to enhance their awareness regarding PTEN-related disorders in fetuses presenting with macrocephaly.