The impact of preimplantation genetic testing on prenatal diagnostic procedures.

OBJECTIVE: In recent years, cell-free DNA screening has significantly reduced the number of invasive prenatal diagnostic testing in pregnancy. Preimplantation genetic testing for aneuploidies (PGT-A) is a commonly performed screening test in in vitro fertilization (IVF) pregnancies. Therefore, we aimed to determine the impact of PGT-A on subsequent utilization of prenatal diagnostic testing in IVF pregnancies. METHODS: Retrospective cohort of singleton and twin IVF pregnancies at a single center from January 2014 to December 2017. The rate of invasive diagnostic genetic testing (chorionic villus sampling (CVS) and/or amniocentesis) was compared between patients with pregnancies achieved after transfer of a euploid embryo by PGT-A (n = 71) and those with pregnancies achieved after transfer of an untested embryo (n = 38). Wilcoxon rank sum and Fisher's exact tests were used for statistical analysis. RESULTS: There was no statistically significant difference in the number of prenatal diagnostic procedures (25.4% PGT-A euploid embryo versus 31.6% untested embryo, p = .51 and p = .32 for one-sided and two-sided analyses, respectively) between the two groups. Maternal age, nuchal translucency measurements and the rate of abnormal sonographic findings were similar between the two groups. Patients without PGT-A pregnancies had a higher BMI (mean 29.6, p = .01) and were ethnically different (p = .013) compared to those with PGT-A. CONCLUSION: The implementation of PGT-A in IVF patients did not reduce the number of invasive diagnostic tests performed at our institution.

Management options for a patient with squamous cell carcinoma arising in a mature cystic teratoma of the ovary.

OBJECTIVE: Mature cystic teratomas, also referred to as dermoid cysts, are one of the commonly occurring ovarian germ cell tumors. Malignant transformation of a germ cell tumor occurs approximately 1-2% of the time. Treatment options vary by stage and are not well outlined in the literature. Here we report a case of a perimenopausal female who presented with increasing abdominal girth and an elevated CA-125. Final pathology revealed an invasive squamous cell carcinoma, moderately to poorly differentiated, multifocal, arising in a cyst on the left ovary, possibly a teratoma. At the time of diagnosis, the patient was FIGO stage IA. The decision was made against adjuvant treatment. Squamous cell carcinoma arising in a mature cystic teratoma of the ovary is rare. Treatment options are not well outlined in the literature, especially for disease less than stage II. Further research is needed to better inform the clinician on management recommendations.