Symptomatic Isolated Pleural Effusion as an Atypical Presentation of Ovarian Hyperstimulation Syndrome

Ovarian hyperstimulation syndrome (OHSS) presents in ~33% of ovarian stimulation cycles with clinical manifestations varying from mild to severe. Its pathogenesis is unknown. Pleural effusion is reported in ~10% of severe OHSS cases and is usually associated with marked ascites. The isolated finding of pleural effusions without ascites, as the main presenting symptom of OHSS is not frequently reported and its pathogenesis is also unknown. We describe two unusual cases of OHSS where dyspnea secondary to unilateral pleural effusion was the only presenting symptom. By reporting our experience, we would like to heighten physicians' awareness in detecting these cases early, as it is our belief that the incidence of pleural effusion in the absence of most commonly recognized risk factors for OHSS may be underestimated and may significantly compromise the health of the patient if treatment is not initiated in a reasonable amount of time

Continuing to deliver: the evidence base for pre-implantation genetic screening

International audienc

Diminished effect of maternal age on implantation after preimplantation genetic diagnosis with array comparative genomic hybridization

OBJECTIVE: To assess the relationship between maternal age, chromosome abnormality, implantation, and pregnancy loss. DESIGN: Multicenter retrospective study. SETTING: IVF centers in the United States. PATIENT(S): IVF patients undergoing chromosome screening. INTERVENTION(S): Embryo biopsy on day 3 or day 5/6 with preimplantation genetic diagnosis (PGD) by array comparative genomic hybridization. MAIN OUTCOME MEASURE(S): Aneuploidy, implantation, pregnancy, and loss rates. RESULT(S): Aneuploidy rates increased with maternal age from 53% to 93% for day 3 biopsies and from 32% to 85% for blastocyst biopsies. Implantation rates for euploid embryos for ages <35-42 years did not decrease after PGD: ranges 44%-32% for day 3 and 51%-40% for blastocyst. Ongoing pregnancy rates per transfer did not decrease for maternal ages <42 years after PGD with day 3 biopsy (48.5%-38.1%) or blastocyst biopsy (64.4%-54.5%). Patients >42 years old had implantation rates of 23.3% (day 3), 27.7% (day 5/6), and the pregnancy rate with day 3 biopsy was 9.3% and with day 5 biopsy 10.3%. CONCLUSION(S): Selective transfer of euploid embryos showed that implantation and pregnancy rates were not significantly different between reproductively younger and older patients up to age 42 years. Some patients who start an IVF cycle planning to have chromosome screening do not have euploid embryos available for transfer, a situation that increases with advancing maternal age. Mounting data suggests that the dramatic decline in IVF treatment success rates with female age is primarily caused by aneuploidy

Live Birth from Previously Vitrified Oocytes, after Trophectoderm Biopsy, Revitrification, and Transfer of a Euploid Blastocyst

Our objective is to describe a successful live birth from oocyte vitrification followed by thaw, fertilization, blastocyst culture, trophectoderm biopsy, vitrification, and subsequent thaw. Fifteen mature oocytes were frozen from a patient with uterine factor infertility. Thirteen oocytes survived the thaw, and five underwent trophectoderm biopsy and were refrozen. Three euploid embryos were obtained. A single euploid embryo was transferred in the second thaw cycle to a known recipient leading to the delivery of a normal male infant. This case report is proof of the concept that preimplantation screening and diagnosis is an option for fertility preservation patients

Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening

Abstract Background Current professional society guidelines recommend genetic carrier screening be offered on the basis of ethnicity, or when using expanded carrier screening panels, they recommend to compute residual risk based on ethnicity. We investigated the reliability of self-reported ethnicity in 9138 subjects referred to carrier screening. Self-reported ethnicity gathered from test requisition forms and during post-test genetic counseling, and genetic ancestry predicted by a statistical model, were compared for concordance. Results We identified several discrepancies between the two sources of self-reported ethnicity and genetic ancestry. Only 30.3% of individuals who indicated Mediterranean ancestry during consultation self-reported this on requisition forms. Additionally, the proportion of individuals who reported Southeast Asian but were estimated to have a different genetic ancestry was found to depend on the source of self-report. Finally, individuals who reported Latin American demonstrated a high degree of ancestral admixture. As a result, carrier rates and residual risks provided for patient decision-making are impacted if using self-reported ethnicity. Conclusion Our analysis highlights the unreliability of ethnicity classification based on patient self-reports. We recommend the routine use of pan-ethnic carrier screening panels in reproductive medicine. Furthermore, the use of an ancestry model would allow better estimation of carrier rates and residual risks