With the widespread uptake of noninvasive prenatal testing (NIPT), a larger cohort of women has access to fetal chromosomal sex, which increases the potential to identify prenatal sex discordance. The prenatal diagnosis of androgen insensitivity syndrome (AIS) is an incidental and rare finding. We wish to present the diagnosis of a prenatal index case after NIPT of cell-free fetal DNA and mismatch between fetal sex and ultrasound phenotype. In this particular case, the molecular analysis of the androgen receptor (AR) gene showed the presence of a pathogenic mutation, not previously reported, consistent with complete androgen insensitivity syndrome. Carrier testing for the mother revealed the presence of the same variant, confirming maternal hemizygous inheritance. Identification of the molecular basis of these genetic conditions enables the preimplantation or prenatal diagnosis in future pregnancies.

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Adnexal masses in pregnancy are a rare finding. The majority of these masses are discovered incidentally during routine follow-up. The differential diagnosis of adnexal masses discovered during pregnancy is broad and the management of such lesions has been a subject of debate for years with no consensus regarding the best management plan. We report a case of a 38 year-old pregnant woman who was diagnosed at the time of the first trimester ultrasound with a multilocular solid arising form the right ovary. A laparoscopy followed by left oophorectomy was performed at 22 weeks and the definitive histology revealed a borderline ovarian cyst/proliferative mucinous atypical cyst. The patient delivered via vaginal at 38 weeks of gestation. This case was discussed and a secondary staging surgery (peritoneal washing, total abdominal hysterectomy, salpingo-oophorectomy, omentectomy, appendectomy, and peritoneal biopsies) was performed with no evidence of disease found. The surgical approach is controversial due to the increased risk of complications. In the absence of large prospective randomized trials it is difficult to know which are the best management practices and especially to determine the right moment during pregnancy to perform surgery in these patients.

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