An incidental finding in prenatal exome sequencing-A case study and review of the clinical and ethical considerations.

The introduction of genomic testing into prenatal care has come at a rapid pace and has been met with significant clinical and ethical challenges, specifically when dealing with incidental findings. We present the case of a couple in their first pregnancy who were referred to our institution with isolated fetal cataracts on morphology scan. After an unremarkable infectious disease workup and microarray on an amniocentesis sample, the couple opted for fetal whole-exome sequencing to investigate the cataracts further. This investigation did not find any cause for the cataracts but yielded an incidental finding of a de novo pathogenic variant in the SCN1A gene unrelated to the cataracts. Pathogenic variants in the SCN1A gene are strongly associated with severe myoclonic epilepsy of infancy, or Dravet syndrome. After extensive genetic counseling, the couple decided to terminate the pregnancy at 28 weeks' gestation based on this finding. This case highlights some of the important clinical and ethical considerations in prenatal genetic diagnosis, particularly in the group of patients in which there is no phenotypic evidence in-utero of the incidental finding. The case demonstrates the value of frameworks and guidelines to guide management decisions for both clinicians and patients.

Cytomegalovirus serological screening at the first antenatal visit: A tertiary-centre audit of general practitioner practices and maternal seroprevalence.

Little is published on cytomegalovirus (CMV) serological screening at the first antenatal visit or the contemporary CMV seroprevalence rates among the Australian pregnant population. We performed a retrospective analysis of public hospital births in a major tertiary centre (n = 840) over a two month period. We found that 13.6% (95% confidence interval (CI) 11.4-16.1%) of women had been screened for CMV at their first antenatal visit with their general practitioner. Of these, 43.0% (95% CI 34.3-52.1%) were CMV seronegative and therefore susceptible to primary infection. Seronegative women were also more likely to have been born in an economically developed country, to live in a socio-economically advantaged postcode and to be nulliparous. The information from this study may help guide future studies of congenital CMV risk reduction strategies.

Osseous metaplasia of the uterus: an interesting presenting complaint and case of secondary infertility: case report.

Little is known about the rare condition, osseous metaplasia of the uterus, with few cases described worldwide. It is a non-neoplastic transformation in which endometrial stroma is replaced with a mix of bone and cartilage. Occurring commonly after pregnancy, it is thought that the persistence of foetal embryonic remnants contributes to this change. If untreated, osseous metaplasia of the uterus can have a major impact on a woman's fertility. Case presentation: The authors present a case of a woman with the feeling of a foreign body in the vagina and a long-standing history of secondary infertility of unknown cause. She was found to have osseous metaplasia of the uterus with spontaneous expulsion of the bony fragments from the uterus into the cervical canal, creating the sensation of foreign body in the vagina. She was treated with hysteroscopic resection. Fertility returned 3 months post procedure. Clinical discussion: This case provides a valuable reminder that osseous metaplasia can have a varied clinical presentation and requires a careful history and examination. Conclusion: This case reinforces the importance of a thorough diagnostic assessment in the woman presenting with foreign body in the vagina/cervix and /orsecondary infertility. This rare but important diagnosis can have a lasting impact on a woman's reproductive health if left untreated.