Detection rate and clinical significance of regions of homozygosity in prenatal genetic diagnosis / 中华妇产科杂志

Objective:To detect the incidence and analyze the clinical significance of regions of homozygosity (ROH) through the single nucleotide polymorphism array (SNP array).Methods:The SNP array detection results of 5 116 pregnant women in the Third Affiliated Hospital of Guangzhou Medical University from January 2016 to December 2020 were retrospectively analyzed. The pregnant women with ROH (5 Mb as the threshold) were followed up to analyze the relationship between ROH and abnormal fetal phenotype. Whole exon sequencing was performed in 4 cases of consanguineous marriage to detect potential recessive causative genes in the ROH region.Results:(1) A total of 39 cases of ROH were detected, with a positive rate of 0.76% (39/5 116). Among them, 25 cases (64%, 25/39) were detected only on single chromosome, and chromosome 11 had the highest detection rate, suggesting the risk of uniparental disomy; fourteen cases (36%,14/39) were detected on multiple chromosomes, most commonly on chromosomes 11, 1, 3, 4 and 8. (2) The number of cases and detection rate of ROH detected by different prenatal diagnosis indicators were as follows: 12 cases (1.78%, 12/676) in pregnant women with abnormal non-invasive prenatal testing result, 12 cases (0.37%, 12/3 284) in pregnant women with ultrasound abnormality, 4 cases (4/4) in pregnant women with consanguineous marriage, 3 cases (0.92%, 3/326) in pregnant women with previous adverse pregnancy, 2 cases (1.15%, 2/174) in pregnant women with high risk of serology in screening, 2 cases (4.00%, 2/50) in pregnant women with abnormal fetal chromosomal karyotype, 2 cases (0.79%, 2/253) in pregnant women with advanced maternal age, 1 case (0.56%, 1/178) in pregnant women with related parental genetic factors and 1 case (0.58%, 1/171) in pregnant women with the other factors. (3) The follow-up results of 39 cases of prenatal ROH showed that there were 16 cases of term birth, 15 cases of termination of pregnancy, 2 cases of preterm births, 1 case of fetal death and 5 cases lost to follow-up.Conclusions:Chromosomal ROH phenomenon is not rare. By analyzing the detection rate of ROH in prenatal diagnosis, combined with the results of fetal phenotype and postpartum follow-up, the clinical characteristics of ROH are discussed, so as to better understand the relationship between ROH and its phenotype.

The B ultra involvement ovary cyst puncture pours into the ethyl alcohol curative effect analysis / 中国基层医药

Objective To discuss the curative effect under the B ultra involvement the ovary cyst puncture to pour into the ethyl alcohol treatment ovary cyst.Methods 66 examples ovaries cyst were handlled as follows:in front of the technique the B ultra prompt for the ovary pure cyst or the chocolate cyst,cyst diameter ≤7cm,the application involvement supersonic technology,after the abdominal wall or the vagina the dome good puncture,puncture needle arrives the pouch cavity,extracted the liquid,after the right amount physiological saline flushing pouch cavity,poured into 95% ethyl alcohol quantity for the pouch for the fluid amount of space occupied 1/3～1/2 quantities.Results The 66 examples patients technique latter 1 month,half year,one year,two years reexaminations,the cyst vanished in 60 examples,reduced in 6 examples,after the cyst vanished no case recured curing rate reached 906%.Conclusion Among the ovary cyst puncture the treatment of pouring into the ethyl alcohol has a good curative effect,operation simple,wound small,non-surgery illness complication.