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Purpose: To investigate the usefulness of preimplantation genetic diagnosis (PGD) for the patient affected by congenital contractural arachnodactyly (CCA) and spinal and bulbar muscular atrophy (SBMA). Methods: Multiple displacement amplification (MDA) was performed for whole genome amplification (WGA) of biopsied trophectoderm (TE) cells. Direct mutation detection by sequencing and next-generation sequencing (NGS)-based single nucleotide polymorphism (SNP) haplotyping were used for CCA diagnosis. Direct sequencing of the PCR products and sex determination by amplification of sex-determining region Y (SRY) gene were used for SBMA diagnosis. After PGD, the unaffected blastocyst (B4) was transferred in the following frozen embryo transfer (FET). Results: In this PGD cycle, sixteen MII oocytes were inseminated by ICSI with testicular spermatozoa. Four blastocysts (B4, B5, B10, B13) were utilized for TE cell biopsy on day 5 after ICSI. After PGD, B4 was unaffected by CCA and SBMA. B5 was affected by CCA and carried SBMA. B10 was unaffected by CCA and carried SBMA. B13 was affected by CCA and unaffected by SBMA. B4 was the only unaffected blastocyst and transferred into the uterus for the subsequent FET cycle. The accuracy of PGD was confirmed by amniocentesis at 21 weeks of gestation. A healthy boy weighing 2850 g was born by cesarean section at the 38th week of gestation. Conclusions: PGD is a valid screening tool for patienst affected of CCA and SBMA to prevent transmission of these genetic diseases from parents to children. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate the impact of early rescue ICSI on neonatal outcome. Methods: This retrospective study compared the neonatal outcome of early rescue ICSI and ICSI with ejaculated sperm, including 233 children who were conceived after early rescue ICSI and a control group of 906 children who were conceived after ICSI with ejaculated sperm, and all of the children had a gestational age of 20 weeks or more. The numbers of live and stillbirths, perinatal deaths, prematurity, birthweights and birth defects of the children were compared. Results: Children in the early rescue ICSI group showed no increased risk of stillbirths, perinatal death or birth defects. Those children also did not differ from those of the ICSI with ejaculated sperm group in gender rate, birthweight, gestational age or prematurity. Conclusions: Early rescue ICSI did not increase the adverse effect on the neonatal outcome when compared to that of ICSI with ejaculated sperm. [ABSTRACT FROM AUTHOR]