Invasive procedures including chorionic villus sampling and amniocentesis in sexlinked diseases increase the risk of fetal loss. Therefore, Noninvasive fetal gender determination using cell-free fetal DNA (cffDNA) in maternal plasma may be promising. Fifty pregnant females with gestational age ranging from six to ten weeks were included. cffDNA were extracted from maternal plasma and amplified by real time and conventional PCR for identification of SRY, DYS14 and DAZ genes as specific genetic markers for male-bearing pregnancies. In general, sensitivity and specificity of real time PCR was better than conventional PCR. However, sensitivity of DYS14 gene and specificity of SRY gene by real time PCR was equal to those of conventional PCR.Sensitivity of DYS14 gene was the highest and sensitivity of SRY gene was the lowest.However, combination of the three Y-chromosomal sequences in the diagnosis increased the accuracy of the test, which is suitable for clinical application.

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Background: Recurrent pregnancy loss [RPL] is one of the most frustrating and difficult areas in reproductive medicine. Aim of the work: This prospective study aims to evaluate the roles of ultrasound and hysteroscopy in recurrent pregnancy loss. Patients and Methods: A total of 100 patients who had a history of two or more RPL had been included. All patients had been subjected to complete history taking, thorough clinical and gynecological examination, three-dimensional [3D] ultrasound and hysteroscopy. Results: The mean age was 27.43 years. In addition, 45% of the included females had two previous RPL while 55% of them had three or more RPL. Hysteroscopy revealed normal findings in 80 cases [80%], endometrial polyp in 7%, submucous myoma in 3%, uterine septum in 6%, and uterine synechiae in 4%. On the other side, three-dimensional ultrasound [3D US], normal findings had been detected in 83 cases [83%], endometrial polyp in 6%, submucous myoma in 3%, uterine septum in 5%, bicornuate uterus in 1%, and uterine synechiae in 2%. There was a statistically significant correlation between the two techniques in detection of the uterine findings in cases of RPL [p =0.001]. Conclusion: Three-dimensional ultrasonography is the best tool for diagnosis of different types of Mullerian duct anomalies whereas hysteroscopy is better in diagnosis of intracavitary lesions.

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Preimplantation genetic diagnosis (PGD) offers couples who need to avoid having a child affected with a severe genetic disease, an alternative to prenatal diagnosis and termination of an existing pregnancy. One of the main indications of PGD is sex selection to avoid sex-linked genetic disorders. The main objective of the present study was to investigate the feasibility of whole genome amplification (WGA) and real time PCR for sexing of single human blastomere and to confirm the results by sequencing. Forty non-viable embryos were selected for analysis. WGA technique was employed on single blastomeres that were biopsied from embryos and on buccal mucosal cells obtained from five men and five women as positive and negative controls respectively. Whole genomic DNA amplification efficiency from a single human blastomere and from optimized buccal cells was 100 % and the level of amplification reached hundreds fold. The obtained genomic DNAs were then subjected to PCR amplification of the SRY, DYS14 and DAZ genes for gender determination. DAZ sequences correctly identified the gender of all male and female embryos with 100% sensitivity and specificity. However, the obtained sensitivity and specificity for SRY sequences were 92.6% and 100% respectively and the obtained sensitivity and specificity for DYS14 sequences were 100% and 93.8% respectively. The results of the present study prove the feasibility of WGA PCR assay for the detection of specific DNA fragments from single cells and the real-time PCR assay of the multicopy DAZ sequence in single human blastomeres detected correctly the embryo's gender. This will pave their use in preimplantation gender determination genetic diagnosis.. Keywords  Preimplantation genetic diagnosis  Embryo sexing  Single human blastomere  Whole genome amplification  Real time PCR. Bull. of Egyp. Soc. Physiol. Sci.

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