Preimplantation genetic testing and prenatal diagnosis in a family with type Ⅰ neurofibromatosis / 中华围产医学杂志

We report the implantation genetic testing and prenatal diagnosis of a family with neurofibromatosis type I (NF1). High-throughput sequencing combined with multiplex ligation-dependent probe amplification was performed to identify the pathogenic mutation sites, then verified by Sanger sequencing. The pathogenic mutation of c.4172G>C in the NF1 gene was found in the proband and his mother. After sequencing and single nucleotide polymorphism (SNP) haplotyping of the mutation sites in the embryos by establishing the SNP-linked haplotype, a well-developed blastocyst, without pathogenic mutations, was transplanted, and 28 d later, the ultrasound confirmed that the patient was pregnant. Amniotic fluid samples of the fetus were obtained at 19 +3 weeks for karyotyping and detection of the gene mutation site, which found the fetus did not carry the maternal c.4172G>C mutation of NF1 gene or any copy number variants of clear clinical significance. The patient delivered a healthy term girl by cesarean section, and no significant abnormalities were found during the follow-up to 10 months of age.

ICSI cycle oocytes maturation ratio and different dosage of gonadotropin choices affecting embryo quality and clinical outcome / 实用医学杂志

Objective To explore ICSI treatment process in the different proportion of oocytes maturation and dosage of gonadotropin affecting embryo quality and clinical outcome. Methods From Jan. to Dec. 2015,we retrospectively analyzed the patients from the center line of ICSI cycle ,divided them into three groups according to the maturity of oocytes. The 3 groups were due to maturity rate of oocytes in 50% in group A(n = 19),50% 0.05). Group A had the best egg rate,high quality embryo rate,clinical pregnancy rate than the other two groups (P < 0.05). In pregnancy and non-pregnancy groups ,the dosage of gonadotropin in the non-pregnancy group was obviously higher than that in the pregnancy group in oocyte maturation in the same proportion interval(P<0.05). Conclusion In ICSI treatment process,the high dose of gonadotropin and rising rates of oocytes maturation are not conducive to the development potential of the egg and clinical outcome,so the dose of gonadotropin and oocyte maturation ratio should be controlled in a certain range to collect and protect the best dominant egg which matches to the state of the patient.

Rapid detection of five kinds of pathogens using single-tube multiplex PCR / 中国医师杂志

Objective To establish a multiple PCR method that can be used to spontaneously detect five kinds ofpathogens such as NG,MH,MG,CT and UU.Method With the fluorescence-quantitative PCR technique in conjunction with another detection technique as the golden standard,evaluation was conducted on the sensitivity,specificity,accuracy and repeatability on the detection of 5 kinds of STD pathogens using single-tube multiplex PCR.Result The sensitivity,specificity and match rate of the method ale 10-9fg/μl,100%,97.8%respectively,and the repeatability of 5 continuous days of 20 clinical specimens is good.Conclusion Single-tube multiplex PCR technique provides a new method to detect 5 kinds of STD pathogens.