Background: Prenatally diagnosed trisomy 16 mosaicism is associated with the increased risk of poor pregnancy outcome including intrauterine growth restriction, intrauterine death and fetal malformation. While maternal preeclampsia has also been reported in some cases, this has not been systematically evaluated.
Methods: To better define the risk of preeclampsia and the clinical course of preeclampsia in these pregnancies and to identify associated clinical variables, we reviewed 25 cases of prenatally diagnosed trisomy 16 mosaicism for which molecular studies were undertaken and sufficient obstetrical data were present to include/exclude the diagnosis of preeclampsia.
Results: Six of 25 (24%) mosaic trisomy 16 cases exhibited preeclampsia as compared to 3 of 44 (7%) matched controls. There were no differences between those mosaic trisomy 16 cases presenting with preeclampsia and those that did not, in terms of the presence/absence of UPD, IUGR, malformation, or trisomy on amniocentesis. Four of the 6 (67%) preeclampsia-associated fetuses were male, compared with only 4 of 19 (21%) (p = 0.06) nonpreeclampsia case fetuses, and three of these also had hypospadias. The levels of trisomy tended to be high in placentas associated with preeclampsia; however very high levels of placental trisomy were also often seen in the absence of preeclampsia.
Conclusion: As it is impossible to predict which subset of cases is at highest risk, all women receiving a prenatal diagnosis of trisomy 16 mosaicism should be closely monitored for signs of preeclampsia.