Clinical Outcomes of Sildenafil Application in Patients of Poor Endometrial Development

Problem: Does sildenafil have an effect on pregnancy outcomes in patients with poor endometrial development?Methods: This study included 472 infertility patients who underwent in vitro fertilization/intracytoplasmatic sperm injection and frozen-thawed embryo transfer (IVF/ICSI-FET) and suffered from poor endometrial development in the hormone replacement cycle (HRC) from April 2017 to July 2019. The patients were divided into two groups: the sildenafil group(n=88) and the control group(n=384). Endometrial thicknesses and types on endometrial transformation day, as well as pregnancy outcomes after FET (biochemical pregnancy, clinical pregnancy, early abortion, late abortion, and live birth rates) between two groups were analyzed. Results: No significant differences were observed in endometrial thicknesses and types on endometrial transformation day between the sildenafil group and the control group. There were also no statistically significant differences in pregnancy outcomes between the two groups. After adjusting for confounding factors, the application of sildenafil could not improve endometrial thickness and type of the day of endometrial transformation and the growth of endometrial thickness. Moreover, the sildenafil was not closely related to clinical pregnancy outcomes.Conclusions: Sildenafil could not better endometrial development and pregnancy outcomes in patients with poor endometrial development.

Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome

IntroductionKagami-Ogata syndrome (KOS14) and Temple syndrome (TS14) are two disorders associated with reciprocal alterations within the chr14q32 imprinted domain. Here, we present a work-up strategy for preimplantation genetic testing (PGT) to avoid the transmission of a causative micro-deletion.MethodsWe analysed DNA from the KOS14 index case and parents using methylation-sensitive ligation-mediated probe amplification and methylation pyrosequencing. The extent of the deletion was mapped using SNP arrays. PGT was performed in trophectoderm samples in order to identify unaffected embryos. Samples were amplified using multiple displacement amplification, followed by genome-wide SNP genotyping to determine the at-risk haplotype and next-generation sequencing to determine aneuploidies.ResultsA fully methylated pattern at the normally paternally methylated IG-DMR and MEG3 DMR in the KOS14 proband, accompanied by an unmethylated profile in the TS14 mother was consistent with maternal and paternal transmission of a deletion, respectively. Further analysis revealed a 108 kb deletion in both cases. The inheritance of the deletion on different parental alleles was consistent with the opposing phenotypes. In vitro fertilisation with intracytoplasmatic sperm injection and PGT were used to screen for deletion status and to transfer an unaffected embryo in this couple. A single euploid-unaffected embryo was identified resulting in a healthy baby born.DiscussionWe identify a microdeletion responsible for multigeneration KOS14 and TS14 within a single family where carriers have a 50% risk of transmitting the deletion to their offspring. We show that PGT can successfully be offered to couples with IDs caused by genetic anomalies.