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

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

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*

Objective To investigate the effect of Simo decoction oral liquid on inflammatory in acute respiratory distress syndrome (ARDS) mouse serum and the bronchoalveolar lavage fluid (BALF) and to explore the mechanism.Methods Fifty BALB/c mice were divided into normal control group, ARDS model group, small, moderate and large dose Simo decoction oral liquid-treated groups (simplified as Simo groups) according to random number table method (n=10, in each group). The ARDS model mice were replicated by lipopolysaccharide (LPS) tracheal instillation, and the mice in normal control group were given the same amount of normal saline. Immediately after the success of modeling, the mice were gavaged with 1, 2, 4 times the equivalent dose Simo decoction oral liquid of 7.56 mL·kg-1·d-1 in small, moderate or large dose Simo groups respectively, and there was no intervention in the normal control group or ARDS model group. All the mice were sacrificed at 24 hours after the respective drug amount or normal saline was given in various groups. The lung samples were taken for histologic evaluation, and BALF and serum samples were analyzed for the tumor necrosis factor-α(TNF-α), interleukin (IL-1β, IL-6), and in the mean time the level of serum superoxide dismutase (SOD) was detected.Results The pathological observation of lung tissue showed: there was no obvious inflammatory exudation in lung tissue of mice in normal control group; the inflammatory exudation in lung tissue of mice was increased significantly, the level of TNF-α (ng/L: 1759±303 vs. 104±27, 2506±674 vs. 507±46), IL-1β(ng/L: 209±16 vs. 114±11, 7325±826 vs. 3513±498) and IL-6 (ng/L: 144±38 vs. 47±7, 126±38 vs. 15±7) in serum and BALF were significantly increased, and the content of SOD (kU/L: 40.26±2.54 vs. 50.68±3.75) in serum was significantly decreased in ARDS model group (allP < 0.05), indicating that animal model of ARDS was set up successfully. Compared with ARDS model group, in small, moderate and large dose Simo groups, the inflammation exudation in lung tissue of mouse was reduced, the levels of TNF-α, IL-1βand IL-6 in serum and BALF were reduced, and the content of SOD in serum was increased [serum: TNF-α(ng/L) was 1642±276, 1126±154, 817±102 vs. 1759±303, IL-1β(ng/L)was 198±12, 170±11, 141±13 vs. 209±16, IL-6 (ng/L) was 127±22, 82±16, 41±15 vs. 144±38, SOD (kU/L) was 42.11±1.64, 48.09±1.23 vs. 40.26±2.54; BALF: TNF-α(ng/L) was 2479±446, 1632±330, 1067±223 vs. 2506±674, IL-1β(ng/L): 6939±725, 5398±625, 4401±210 vs. 7325±826, IL-6 (ng/L): 106±30, 68±13, 34±10 vs. 126±38, allP < 0.05], showing the Simo decoction inhibiting the lung inflammation and the above levels of indexes inserum and BALF was in a dose-dependent manner, and the changes in large dose Simo group was the most significant 45.18±1.15, .Conclusions Simo decoction oral liquid can inhibit the inflammatory response of ARDS, reduce the oxidative stress and decrease the lung injury of mice with ARDS.

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.

OBJECTIVE To discuss the factors affecting the blood concentration of high-dose methotrexate （HD-MTX） and the occurrence of adverse drug reactions （ADR） when treating lymphoma with HD-MTX. METHODS From July 2020 to November 2021， the information of HD-MTX patients who had been monitored for HD-MTX blood drug concentration in the First Affiliated Hospital of Guangdong Pharmaceutical University was collected by retrospective analysis， such as medical record number， age， sex， height， body mass， chemotherapy plan， dosage； test indexes such as alanine transaminase， aspartate transaminase， total bilirubin， creatinine clearance （CrCl）， albumin （ALB） and other indexes were also collected before and after administration. The blood concentrations （c6 h， c24 h， c48 h） of HD-MTX were recorded， drug information of proton pump inhibitors （PPIs） was extracted and used， and ADR occurring within 48 h after administration were all evaluated. Single factor analysis， multiple linear regression and χ2 test were used to analyze the influential factors. RESULTS A total of 133 patients were included in this paper. The results of the single factor analysis of HD-MTX blood drug concentration showed that age， CrCl had an effect on c 6 h （P＜0.05）； age， CrCl and ALB had an effect on c24 h （P＜0.05）； age， body mass index （BMI）， CrCl， combined use of PPIs and ALB had an effect on c48 h （P＜0.05）. The results of multiple linear regression analysis showed that age and CrCl had no effect on c 6 h （P＞0.05）， age was the main influential factor of c 24 h （P＜0.05）， and CrCl and combined use of PPIs were the main influential factors of c48 h （P＜0.05）； the coefficient of variance expansion was between 1 and 3.5， indicating that the analysis results were acceptable. The overall incidence of adverse reactions was 51.13%， of which the blood and lymphatic system reactions were the most common. The results of the influential factors of ADR showed that age， BMI， liver function and CrCl had effect on the incidence of ADR （P＜0.05）. CONCLUSIONS During the process of HD-MTX in the treatment of lymphoma， the patient’s age， CrCl and combined use of PPIs should be considered， and the patient’s blood concentration should be monitored； at the same time， the age of patients， BMI， liver function and CrCl have an impact on the incidence of ADR.