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Aim: The study aimed to describe prenatal diagnosis and the outcome of complete hydatidiform mole and coexistent normal fetus (CHMCF). Methods: This was a retrospective case series of 13 patients with CHMCF. Prenatal diagnosis, outcome and development of gestational trophoblastic neoplasia (GTN) were reviewed. Results: Ultrasound diagnosis was carried out in 12 of 13 cases at 17 ± 2.7 weeks of gestation (mean ± SD). Six patients showed abnormalities suggestive of subchorionic hematoma on first trimester ultrasonography (US). Prenatal invasive procedures were performed in 8 of 13 cases (62%). Two women decided to terminate their pregnancies. Four ended in late miscarriages (36%, 4 of 11) between 13 and 21 weeks, and early neonatal death occurred in 1 case (9%, 1 of 11); 5 women delivered a live baby with a mean gestational age of 31 weeks (range 26-37 weeks) with an overall neonatal survival of 45% (5 of 11). GTN occurred in 31% of cases (4 of 13). Conclusions: The first trimester US features of CHMCF are not well-documented. Our series showed that abnormalities of CHMCF could be misdiagnosed as subchorionic hematoma in the early first trimester. When CHMCF is confirmed by expert US, prenatal invasive procedures should be carefully evaluated depending on the associated US findings and exhaustive counseling should be performed.

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Fertility issues have become critical in the management and counseling of BRCA mutation carriers. In this setting four points deserve consideration. (1) Women in general lose their ability to conceive at a mean age of 41 years, thus the suggested policy of prophylactic bilateral salpingo-oophorectomy at age 40 for BRCA mutation carriers does not affect the chances of natural pregnancy. Conversely, if the procedure is chosen at 35 years old, oocyte cryopreservation prior to surgery should be considered. (2) Some evidence suggests that ovarian reserve may actually be partly reduced in BRCA mutations carriers and that the mutation may affect ovarian responsiveness to stimulation. However, these findings are still controversial. (3) Breast cancer is not rare before the age of 40 and fertility preservation after diagnosis can be requested in a significant proportion of BRCA mutation carriers. Thus, a policy of oocyte cryopreservation in young healthy carriers deserves consideration. The procedure could be considered at a young age and in an elective setting, when ovarian stimulation may yield more oocytes of better quality. (4) Preimplantation genetic diagnosis (PGD) could be considered in BRCA mutations carriers, particularly when good quality oocytes have been stored at a young age. Based on the current knowledge, a univocal approach cannot be recommended; in depth patient counseling is warranted.