The birth of a baby with mosaicism resulting from a known mosaic embryo transfer: a case report.

Mosaic embryos have the potential to implant and develop into healthy babies. The transfer of mosaic embryos is now considered to be a possible option for women undergoing ART with preimplantation genetic testing for aneuploidies and in the absence of euploid embryos, particularly those with diminished ovarian reserve and/or advanced maternal age. It can aid in avoiding the discard of potentially viable embryos, which might otherwise result in healthy babies. In over 500 studies on mosaicism, there have been no reports of mosaicism in babies born following the transfer of mosaic embryos. Here, we present a case report of a 39-year-old woman with diminished ovarian reserve with only one blastocyst available for trophectoderm biopsy. The transfer of the embryo, which showed 35% mosaicism of monosomy 2, resulted in pregnancy. Amniocentesis revealed a mosaic trisomic mos46,XX(98)/47,XX,+2(2) karyotype. There were no pathological findings in detailed ultrasonography, and the fetus showed a normal fetal growth with no evidence of intrauterine growth retardation. A healthy female baby was born at Week 37. The peripheral blood chromosome analysis validated with fluorescence in situ hybridization showed 2% mosaic monosomy 2 [mos45,XX,-2(2)/46,XX(98)]. This is the first reported case of true fetal mosaicism resulting in a live birth following the transfer of a known mosaic embryo. Worldwide, prenatal diagnosis has shown the depletion of mosaicism in embryos transferred after they have been reported as mosaics. Our case demonstrates the need for close prenatal monitoring and diagnosis by early amniocentesis, preferably at >14 weeks gestation.

High rates of aneuploidy, mosaicism and abnormal morphokinetic development in cases with low sperm concentration.

PURPOSE: The aim of our study was to evaluate the impact of severe male infertility (SMF) on the chromosomal status of embryos and any possible correlation between chromosomal status and embryo morphokinetics in younger women using data obtained from comprehensive preimplantation genetic tests. METHODS: The trial was conducted in an ART and Reproductive Genetics Centre between 2011 and 2018. A total of 326 cycles in cases with SMF where the female partner's age was ≤ 35 years were evaluated. SMF is defined as sperm concentration below 5 mil/ml (million per milliliter) and divided into three subgroups according to sperm concentrations: 1-5 mil/ml, < 1mil/ml and testicular sperm. The control group of 190 cycles had normal sperm parameters. RESULTS: Significantly lower chromosomal euploidy rates were found in the testicular sperm group compared with the normal sperm controls when the female age was ≤ 35 years. In SMF, statistically significantly affected chromosomes were 2, 10, 11, 17, 21 and sex chromosomes. The mosaicism and abnormal morphokinetic development rates were higher in the SMF group than in control group, and this difference was significant when testicular sperm was used. CONCLUSION: Lower euploidy rates, higher mosaicism rates and a higher incidence of abnormal morphokinetic development were observed in cases with testicular sperm with female partners ≤ 35 years compared with normal sperm controls. These findings suggest that PGT-A may be advisable in severe male infertility cases. Furthermore, the correlation between morphokinetics and chromosomal status was greatly reduced or absent in these most severe forms of male infertility, thus the need for new morphokinetic models.

Is the presence of venous reflux really significant in the diagnosis of varicocele?

OBJECTIVES: We have attempted to determine the incidence of venous reflux detected by color Doppler in varicoceles of various grades evaluated during a physical examination. PATIENTS AND METHODS: The data of patients referred to our outpatient clinic between 1997 and 2007 with the diagnosis of varicocele due to complaints of scrotal pain, palpable swelling or infertility were retrospectively reviewed. The presence of venous reflux was compared with the grade of varicoceles during a physical examination. RESULTS: A total of 802 male patients with a mean age of 27.1 years (range 16-52 years) were included in this study. Of these, physical examination reviewed that ten (1.2%), 72 (9.0%), 433 (54.0%) and 287 (35.8%) patients had grade 0, 1, 2 or 3 varicoceles, respectively, on the left side and that 607 (75.7%), 73 (9.1%), 108 (13.5%) and 14 (1.7%) patients had grade 0, 1, 2 or 3 varicoceles, respectively, on the right side. Color Doppler examination revealed venous reflux in three (30.0%) grade 0 testicular units, 63 (87.5%) grade 1 testicular units, 400 (92.4%) grade 2 testicular units and 273 (95.1%) grade 3 testicular units on the left side and venous reflux in 99 (16.3%) grade 0 testicular units, 54 (73.6%) grade 1 testicular units, 88 (81.5%) grade 2 testicular units and 12 (85.7%) grade 3 testicular units on the right side. Physical examination did not reveal any statistically significant correlation between the incidence of venous reflux and the grade of the clinically evident varicoceles for both sides. CONCLUSIONS: For assessing the severity of clinically evident varicoceles, the clinician should not use venous reflux as the sole predictor because of its high incidence in all grades of varicoceles. Additional measurements, such as flow volume, duration and velocity of reflux, are recommended as diagnostic tools for assessing the severity of varicocele more accurately.

A new parameter for staging bladder carcinoma: ultrasonographic contact length and height-to-length ratio.

OBJECTIVE: The purpose of this study was to investigate the value of tumor-bladder wall contact length (CL), tumor height (H), and height-to-length ratio (H/CL) for preoperative staging of bladder carcinoma. METHODS: Fifty-seven patients with bladder tumors underwent suprapubic ultrasonography preoperatively, and the CL of the tumor with the bladder wall and H in the bladder lumen were measured. The CL, H, and H/CL values were correlated with the wall invasion determined by histopathologic analysis of the cystectomy material. Invasion was staged according to the TNM classification system. RESULTS: Statistically significant differences were found for CL (P < .001) and H/CL (P = .001) between the superficial and invasive tumor groups. These parameters were also effective for differentiating superficial or deep muscle invasion. A CL of greater than 41.5 mm and an H/CL of less than 0.605 were calculated as cutoff values for differentiating superficial and invasive tumors. Height had no value for determining invasion. CONCLUSIONS: The ultrasonographic measurements of CL of the tumor with the bladder wall and H/CL may be useful for staging bladder carcinoma by verification of these findings in larger groups of patients.