Accuracy of perinatal diagnosis of 45,X/46,XY mosaicism and electronic consultation of affected parents

Objective To assess parental satisfaction with e-mail consultations and fetal outcomes after consultation for offspring with 45,X/46,XY mosaicism. Patients and methods A chart review was performed of prenatal and postnatal e-mail consultations concerning 45,X/46,XY mosaicism at our institution. Prenatally, mosaicism was detected by amniocentesis; postnatally by phenotype and subsequent genotyping. Parents e-mailed us for a second opinion after internet searches. Follow-up parental satisfaction was evaluated by e-mail. Results E-mail consultation occurred in six prenatal and eight postnatal cases. One of the eight postnatal cases had a prenatal diagnosis but without our second opinion. In 7/8 postnatal cases, abnormal neonatal phenotype was evaluated by genotyping. Termination of pregnancy was a consideration in all six prenatal consultations, although not discussed by us. One fetus was stillborn. Postnatal karyotype was mosaic in 11/13 surviving neonates. Phenotypes in surviving fetuses were normal male (2/13), hypospadias and an undescended testis or streak gonad (9/13), female with mild clitoral hypertrophy (1/13), and normal female (1/13). The stillborn fetus was noted only to have a penis. Conclusion All parents reported in follow up that e-mail consultations provided them with enhanced clinical information, allowing them to make better informed clinical decisions.