Objective To evaluate the efficacy,safety and side effects of 0.5% povidone-iodine in intravesical treatment of interstitial cystitis (IC). Methods Thirty-three cases of IC were divided randomly into group A (18 cases) and group B (15 cases). Group A was treated by intravesical instillation with 50 ml of 0.5% povidone-iodine which was kept in the bladder for 2 hours,once a day for 2 weeks. Group B was treated in the same way,but with 1:5000 furacilin instead. The symptoms,results of cystoscope inspect and adverse effects were investigated. Results All cases were followed up from 8 to 22 months (in average of 18 months). There was significant difference in the scores of clinical symptoms after treatment between two groups (P

Objective To analyze the fetus chromosome abnormalities in women with advanced maternal age under the universal two-child policy. Methods A total of 10607 women underwent prenatal diagnosis proce-dures from the year of 2015 to 2016,among which 3569 cases were with advanced maternal age. Cytogenetic karyotyping was conducted with chromosomal microarray analysis(CMA)in 854 cases. The ration of chromosome abnormalities in the two population groups(aged from 35~39 and over 40)were counted. The type of abnormali-ties were also analyzed. Results The ration of women with advanced maternal age in 10607 cases underwent pre-natal diagnosis between 2015 and 2016 was 33.6%. The respective rations were 27.2%and 37.9%. The detection rates of chromosome abnormalities were 7.9% and 10.8%,with significantly difference. The significant differences were also found in the detection rate of chromosome aneuploidies ,but no differences in other chromosome abnor- malities. CMA was benefit to detect the micro chromosome abnormalities. Conclusions In 2016,the number of prenatal diagnosis procedures increased under the two-child policy. The detection rate of chromosome abnormalities also significantly increased. The incidence of chromosome abnormalities was higher with the growing age of preg-nant women. Genetic counseling must be presented and prenatal diagnosis should be promoted in women with ad-vanced age.

OBJECTIVE: To analyze the indication, karyotyping result, ultrasound finding, pregnancy decision and follow-up of fetuses with sex chromosome aneuploidies (SCA) detected by non-invasive prenatal testing (NIPT) during early and midterm pregnancies. METHODS: The results of 225 singleton pregnancies with fetal SCA detected by NIPT were reviewed and analyzed. RESULTS: The 225 cases included 45,X (n=37), 47,XXY (n=74), 47,XXX (n=50), 47,XYY (n=56) and mosaicisms (n=8), among which 121 (53.8%) have opted to terminate the pregnancy, including 45,X (n=31), 47,XXY (n=61), 47,XXX (n=14), 47,XYY (n=12) and 3 mosaicisms. The remainder 104 (46.2%) have elected to continue with the pregnancy, among which three have opted to terminate due to abnormalities detected by ultrasonography, and two had spontaneous abortions. CONCLUSION NIPT as a first-tier screening method can effectively detect fetal trisomies 21, 13 and 18 as well as SCA. The types of fetal SCA and presence of ultrasound abnormalities are critical factors for the termination of pregnancy.
Aneuploidy ; Down Syndrome ; Female ; Fetus ; Humans ; Pregnancy ; Prenatal Diagnosis ; Sex Chromosome Aberrations ; Trisomy

With the extensive application of highly sensitive genetic techniques in the field of prenatal diagnosis, prenatal chromosomal mosaicisms including true fetal mosaicisms and confined placental mosaicisms are frequently identified in clinical settings, and the diagnostic criteria and principle of genetic counseling and clinical management for such cases may vary significantly among healthcare centers across the country. This not only has brought challenges to laboratory technician, genetic counselor and fetal medicine doctor, but can also cause confusion and anxiety of the pregnant woman and their family members. In this regard, we have formulated a consensus over the prenatal diagnosis and genetic counseling for chromosomal mosaicisms with the aim to promote more accurate and rational evaluation for fetal chromosomal mosaicisms in prenatal clinics.
Consensus ; Female ; Genetic Counseling ; Humans ; Mosaicism ; Placenta ; Pregnancy ; Prenatal Diagnosis/methods*

OBJECTIVETo assess the value of chromosomal karyotyping and array-based comparative genomic hybridization for the diagnosis of fetus with abnormalities detected by ultrasonography.

METHODSUmbilical cord blood samples were derived from 1 603 pregnant women. The samples were cultured for routine G-banding karyotype analysis. Among these, 792 samples have further subjected to array CGH analysis.

RESULTSAmong the 1 603 fetuses, 117 (7.30%) were found with chromosomal abnormalities. These included 72 numerical aberrations and 45 structural abnormalities, which respectively accounted for 4.49% and 2.81% of all cases. For those <35 years and ≥ 35 years, a significant difference has been found in terms of fetal chromosomal abnormalities (chi-square is 30.687, P< 0.01). And there was also a significant difference between those with isolated, two or multiple ultrasonographic markers (chi-square is 85.50, P< 0.01). Among 736 fetuses with a normal karyotype, array CGH has detected 17 (2.31%) with a microdeletion or microduplication.

CONCLUSIONKaryotype analysis and array CGH should be offered to all fetuses with ultrasonography detected anomalies regardless the number of markers.

Adolescent ; Adult ; Chromosome Aberrations ; Chromosome Disorders ; diagnosis ; genetics ; Comparative Genomic Hybridization ; methods ; Female ; Fetus ; abnormalities ; Humans ; Karyotyping ; Pregnancy ; Prenatal Diagnosis ; methods ; Ultrasonography, Prenatal ; methods ; Young Adult

OBJECTIVE: To carry out prenatal diagnosis for two cases of Pallister-Killian syndrome (PKS) using combined chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH). METHODS: Umbilical cord blood was sampled from the two fetuses and subjected to G-banding chromosomal karyotyping, CMA and FISH assay. RESULTS: Chromosomal karyotyping showed that the two fetuses were mos 47,XX,+i(12)(p10)[3]/46,XX[197] and mos 47,XY,+i(12)(p10)[5]/46,XY[95], respectively. CMA showed that both had carried duplication of 12p. The results of interphase FISH confirmed mosaicism of 12p tetrasomy. Combined with ultrasonographic findings, both fetuses were diagnosed as PKS. CONCLUSION Prenatal ultrasound examination, karyotype analysis of umbilical cord blood, G-banded chromosomal analysis, CMA and FISH may be used in conjunct for the prenatal diagnosis of PKS.
Chromosome Disorders ; diagnosis ; Chromosomes, Human, Pair 12 ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Microarray Analysis ; Mosaicism ; Pregnancy ; Prenatal Diagnosis

Objective:To analyze the indications for prenatal diagnosis and summarize the pregnancy outcomes and its influencing factors of pregnant women with fetal sex chromosome aneuploidy (SCA).Methods:This study retrospectively enrolled 1 372 fetuses prenatally diagnosed with SCA in Medical Genetics Center of Guangdong Women and Children Hospital from January 2013 to December 2021. The relationship between prenatal diagnosis indications and SCA as well as between ultrasound abnormalities, pregnancy outcomes and SCA types were analyzed by Chi-square test and trend Chi-square test. Results:The most common prenatal diagnosis indication was abnormal non-invasive prenatal testing (NIPT) (61.6%, 845/1 372). The most common SCA type was 47,XXY in cases with indications of abnormal NIPT and advanced maternal age, mosaic in cases with high or borderline risk of Down syndrome, and 45,X in cases with increased nuchal translucency or cystic hygroma. Of 1 372 pregnant women with fetal SCA, 17 were lost to follow-up, seven had intrauterine fetal death, and 1 348 (98.3%) were followed up for pregnancy outcomes including 36.3% (489/1 348) continued pregnancies and 63.7% (859/1 348) terminations. Pregnancy termination rates decreased sequentially in pregnant women carrying fetuses with 45,X, 47,XXY, mosaic, 47,XXX and 47,XYY [99.2% (247/249), 74.5% (307/412), 67.8% (156/230), 36.6% (86/235) and 28.4% (63/222), χ2trend=352.76, P<0.001]. There was no significant difference in pregnancy termination rates among the cases with different mosaic mutations (all P>0.05). The pregnancy termination rate was higher in fetuses with SCA complicated by ultrasound structural abnormalities than in those without ultrasound abnormalities and those with ultrasound soft markers [91.5% (182/199) vs 57.1% (535/937) and 67.0% (142/212), χ2 were 83.68 and 36.85, both P<0.001]. Moreover, the pregnancy termination rate in fetuses with SCA complicated by ultrasound soft markers was higher than those without ultrasound abnormalities ( χ2=7.13, P<0.05). Conclusions:NIPT abnormality is the most common indication for prenatal diagnosis of SCA. The types of SCA and ultrasound findings are important factors determining whether the pregnancy would be continued or not.

Objective To investigate the predictive value of central venous-to-arterial carbon dioxide difference (Pcv-aCO2) on the prognosis of elderly patients with sepsis.Methods 208 elderly patients who met the diagnostic criteria of the Sepsis-3 and with the age of more than 60 years old, and admitted to intensive care unit (ICU) of Guangdong General Hospital from January to December in 2017 were enrolled. According to the prognosis, the patients were divided into death group (n = 46) and survival group (n = 162). The Pcv-aCO2, central venous oxygen saturation (ScvO2), serum procalcitonin (PCT), C-reactive protein (CRP), sequential organ failure assessment (SOFA) and acute physiology and chronic health evaluationⅡ (APACHEⅡ) were collected for all patients. The differences of each index between the two groups were compared. The correlations between Pcv-aCO2 and ScvO2, PCT, CRP, SOFA, APACHEⅡscores were analyzed respectively with Pearson correlation. The prognostic value of Pcv-aCO2 in elderly patients with sepsis was assessed by receiver operating characteristic curve (ROC).Results Compared with survival group, the Pcv-aCO2, PCT, CRP, SOFA and APACHEⅡscores in death group were significantly increased [Pcv-aCO2 (mmHg, 1 mmHg = 0.133 kPa): 6.13±3.33 vs. 4.40±2.65, PCT (μg/L): 31.41±12.83 vs. 3.01±2.69, CRP (mg/L): 130.51± 42.23 vs. 104.46±50.12, SOFA: 12.01±2.25 vs. 9.05±2.06, APACHEⅡ: 29.52±5.03 vs. 20.01±3.21, allP < 0.05], and ScvO2 in death group was significantly decreased (0.571±0.136 vs. 0.685±0.106,P < 0.01). Correlation analysis showed that the Pcv-aCO2 was negatively correlated with ScvO2 (r = -0.762,P = 0.001) and was positively correlated with PCT, CRP, SOFA and APACHEⅡscores (r value was 0.737, 0.625, 0.738, 0.713, respectively, allP < 0.05). ROC curve analysis showed that the area under the ROC curve (AUC) of Pcv-aCO2 prediction of death in patients with sepsis was 0.826, the cut-off was 6.62 mmHg, the sensitivity was 84.7％, the specificity was 77.5％, the positive likelihood ratio was 3.76, and the negative likelihood ratio was 0.19.Conclusion Pcv-aCO2 has a great value in evaluating the prognosis of elderly patients with sepsis and can accurately determine the prognosis of sepsis.