Extracorporeal cardiopulmonary resuscitation in grownups data along with significance

To explore the correlation between microRNA (miRNA) differential expression and quality of embryo.
The miRNA expression profiles of 8 blastocysts were detected by a TaqMan microRNA array, and miRNAs with a stable expression were selected. Additional blastocysts were selected, and the candidate miRNA was detected by real-time PCR. Meanwhile, chromosomal abnormalities of the embryos were detected by using next-generation sequencing, and the results were compared.
The expression of mir-720, mir-372, mir-886-3p and mir-512-3p was higher than that of miR-145, which suggested that mir-720, mir-372, mir-886-3p and mir-512-3p are related to early embryo development. The expression of miR-145 and mir-886-3p were significantly lower in the normal chromosome group. With the threshold values of above 9 and 3 for the relative expression of miR-145 and mir-886-3p, respectively, there was no embryo without a chromosomal abnormality.
There is a correlation between the expression level of specific miRNA and chromosomal abnormalities of embryos, which may be used as a novel biomarker for embryo selection.
There is a correlation between the expression level of specific miRNA and chromosomal abnormalities of embryos, which may be used as a novel biomarker for embryo selection.
To apply single cell sequencing based on multiple annealing and looping amplification cycles (MALBAC) for the determination of the rate and type of mosaicisms of high-quality embryos at cleavage stage.
After thawing and removing of zona pellucida by enzymatic digestion, blastomeres were collected the high-quality embryos donated by couples whom had given birth to healthy offspring by intracytoplasmic sperm injection and embryo transfer. The whole genome of single cell was amplified and subjected to next generation sequencing.
From a total of 23 embryos, 184 blastomeres were collected. 175 (95.1%) of the blastomeres were successfully sequenced, of which 100 (57.1%) were found to harbor chromosomal aneuploidies. Among the 23 embryos, 3 (13.0%) were diploid, 20 (87.0%) were mosaicisms, which included 5 (21.7%) aneuploid mosaicisms, 7 (30.4%) diploid-aneuploid mosaicisms, 5 (21.7%) abnormal mosaicisms, and 3 (13.0%) irregular segregations.
There is a high rate of chromosomal mosaicisms in high-quality cleavage embryos. Mosaicisms of complex chromosomal abnormality or with high proportion of abnormal cells may be an important factor affecting the potential of embryonic development.
There is a high rate of chromosomal mosaicisms in high-quality cleavage embryos. Mosaicisms of complex chromosomal abnormality or with high proportion of abnormal cells may be an important factor affecting the potential of embryonic development.
To assess the value of single sperm sequencing in preimplantation genetic diagnosis.
A male patient with achondroplasia due to a de novo FGFR3 variant was subjected to single sperm isolation and sequencing. Twenty single sperm samples were isolated by mechanical immobilization, and their whole genome was amplified. PCR primers were designed for the variant site and 25 flanking single nucleotide polymorphism (SNP) loci, and the PCR products were sequenced to determine the chromosomal haplotype which did not harbor the pathogenic variant. Biopsy samples of 12 embryonic trophoblasts were taken. Following whole genome amplification, high-throughput sequencing was carried out to detect the carrier status of the embryos. Wild type blastocysts were selected for transplantation. Amniotic fluid samples were taken at 19 weeks of gestation to confirm the status of the fetus.
Eight SNP were selected by single sperm sequencing, with which the haplotypes were successfully constructed. Preimplantation genetic testing indicated that 5 embryos have carried the pathogenic variant and 7 did not. Testing of amniotic fluid sample during the second trimester of pregnancy confirmed that the fetus did not carry the FGFR3 gene c.1138G>A variant.
For male patients carrying de novo pathogenic variants, SNP sites can be selected through single sperm sequencing, and haplotypes can be constructed by linkage analysis for preimplantation genetic diagnosis.
For male patients carrying de novo pathogenic variants, SNP sites can be selected through single sperm sequencing, and haplotypes can be constructed by linkage analysis for preimplantation genetic diagnosis.
To assess the value of mapping allele with resolved carrier status (MaReCs) technology for the determination of balanced translocation carrier status for embryos.
Blastocysts produced by 25 reciprocal translocation carriers and 15 Robertsonian translocation carriers were detected by MaReCs. After genetic counseling, transplantable blastocysts were selected. PBIT Amniocentesis was performed to check fetal chromosomes at 16 to 20 gestational weeks, and the consistency of amniocentesis and MaReCs was determined.
No significant difference was found in the normal rate for chromosome copy number variations (CNVs) in blastocysts between reciprocal translocation carriers and Robertsonian translocation carriers (28.6% vs. 32.0%, P> 0.05). For 12 (48%) reciprocal translocation carriers and 8 (32%) Robertsonian translocation carriers, the status of translocation carrier of embryos was successfully determined. The results of amniocentesis were consistent with that of MaReCs in all 11 pregnancies.
MaReCs is a reliable method to distinguish the translocation carrier status of embryos of balanced translocation carriers. It can help a certain proportion of balanced translocation carriers to select completely normal embryos while reduce transfer of embryo carrying a balanced translocation.
MaReCs is a reliable method to distinguish the translocation carrier status of embryos of balanced translocation carriers. It can help a certain proportion of balanced translocation carriers to select completely normal embryos while reduce transfer of embryo carrying a balanced translocation.Although non-invasive prenatal testing has been widely used, it has certain limitations. As the gold standard of prenatal diagnosis, G-banding karyotype analysis is time-consuming and laborious. Fluorescence in situ hybridization (FISH), as a method for detecting samples with non-radioactive signals, does not require cell culture and has a short turnover time, and can diagnose aneuploidies of chromosomes 13, 18, 21, X, Y with efficiency, which can solve the problems such as insufficient testing ability and long diagnosis period for karyotype analysis. To standardize the procedures of prenatal FISH assay and enhance laboratory quality management, the Expert Committee of the Prenatal Screening and Diagnosis Laboratory of the Clinical Test Center of the National Health Commission and the Inter-laboratory Quality Assessment Committee of the Neonatal Genetic and Metabolic Disease Screening Laboratory have formulated this consensus.