Decreased synapse-associated proteins are associated with the onset of epileptic memory impairment in endothelial CDK5-deficient mice.

Accumulating evidence indicates that epilepsy has a higher risk of inducing memory impairment and dementia. However, the underlying onset mechanism remains unclear. Here, we found that mice with spontaneous epilepsy induced by endothelial CDK5 deficiency exhibited hippocampal-dependent memory impairment at 6 months of age, but not at 2 months of age. Moreover, the persistent epileptic seizures induce aberrant changes in phosphorylation of CaMKII protein in the hippocampus of spontaneous epileptic mice. Using genome-wide RNA sequencing and intergenic interaction analysis of STRING, we found that in addition to epilepsy-related genes, there are changes in synaptic organization pathway node genes, such as Bdnf and Grin1. The synapse-related proteins by Western blot analysis, such as NMDA receptors (NR1 and NR2B), PSD95, and the phosphorylation of synapsin1, are progressively decreased during epileptic seizures in Cdh5-CreERT2;CDK5f/f mice. Notably, we found that valproate (VPA) and phenytoin (PHT) augment mRNA expression and protein levels of synapse-related genes and ameliorate memory impairment in Cdh5-CreERT2;CDK5f/f mice. Our study elucidates a potential mechanism of memory deficits in epilepsy, and pharmacological reversal of synaptic pathology targeting might provide a new therapeutic intervention for epileptic memory deficits.

Diagnostic performance of microRNAs in testicular germ cell tumors: a systematic review and meta-analysis.

The sensitivity (Sen) of classic biomarkers for the diagnosis of testicular germ cell tumors (TGCTs) is currently low. Previous studies have shown the diagnostic potential of microRNAs (miRNAs) for TGCTs; however, the results of these studies are inconsistent. Therefore, we conducted a systematic review and meta-analysis to evaluate their diagnostic value. PubMed, EMBASE, Cochrane Library, and Web of Science databases were systematically searched until September 30, 2020 and 18 trials from 11 studies involving 2,068 participants were included in this meta-analysis. Using a bivariate mixed-effects meta-analysis model, the pooled Sen, specificity (Spe), positive likelihood ratio (PLR), negative likelihood ratio (NLR), diagnostic odds ratio (DOR), and area under the curve (AUC) with 95% confidence interval values of total miRNAs were 0.83 (0.73-0.90), 0.95 (0.89-0.98), 15.79 (7.41-33.66), 0.18 (0.11-0.29), 87.13 (41.99-180.82), and 0.95 (0.93-0.97), respectively; however, the observed values of single miR-371a-3p were 0.84 (0.76-0.90), 0.95 (0.91-0.98), 18.41 (9.69-34.97), 0.17 (0.11-0.26), 111.56 (47.72-260.80), and 0.97 (0.95-0.98), respectively. Subgroup analysis revealed that miRNAs that included miR-371a-3p showed higher predictive performance than those that did not (P < 0.05). This research identified that miR-371a-3p has a high diagnostic value for TGCTs, except teratoma.

Systematic review of the registered clinical trials for coronavirus disease 2019 (COVID-19).

BACKGROUND: Since the outbreak of coronavirus disease 2019 (COVID-19), many researchers in China have performed related clinical research. However, systematic reviews of the registered clinical trials are still lacking. Therefore, we conducted a systematic review of clinical trials for COVID-19 to summarize their characteristics. METHODS: This study is based on the PRISMA recommendations in the Cochrane handbook. The Chinese Clinical Registration Center and the ClinicalTrials.gov databases were searched to identify registered clinical trials related to COVID-19. The retrieval inception date was February 9, 2020. Two researchers independently selected the literature based on the inclusion and exclusion criteria, extracted data, and evaluated the risk of bias. RESULTS: A total of 75 registered clinical trials (63 interventional studies and 12 observational studies) for COVID-19 were identified. The majority of clinical trials were sponsored by Chinese hospitals. Only 11 trials have begun to recruit patients, and none of the registered clinical trials have been completed; 34 trials were early clinical exploratory trials or in the pre-experiment stage, 13 trials were phase III, and four trials were phase IV. The intervention methods included traditional Chinese medicine in 26 trials, Western medicine in 30 trials, and integrated traditional Chinese medicine and Western medicine in 19 trials. The subjects were primarily non-critical adult patients (≥ 18 years old). The median sample size of the trials was 100 (IQR: 60-200), and the median length of the trial periods was 179 d (IQR: 94-366 d). The main outcomes were clinical observation and examinations. Overall, the methodological quality of both the interventional trials and observational studies was low. CONCLUSIONS: Intensive clinical trials on the treatment of COVID-19 using traditional Chinese medicine and Western medicine are ongoing or will be performed in China. However, based on the uncertain methodological quality, small sample size, and long trial duration, we will not be able to obtain reliable, high-quality clinical evidence regarding the treatment of COVID-19 in the near future. Improving the quality of study design, prioritizing promising drugs, and using different designs and statistical methods are worth advocating and recommending for clinical trials of COVID-19 in the future.

Use of thiazide diuretics for the prevention of recurrent kidney calculi: a systematic review and meta-analysis.

BACKGROUND: Thiazide diuretics reduce the risk of recurrent kidney calculi in patients with kidney calculi or hypercalciuria. However, whether thiazide diuretics can definitely prevent recurrent kidney calculi remains unclear. We aimed to evaluate the effect and safety of thiazide diuretics on recurrent kidney calculi. METHODS: The PubMed, Cochrane Library, and EMBASE databases were systematically searched using the keywords thiazide diuretics and kidney calculi to identify randomized controlled trials (RCTs). The primary outcome was the incidence of recurrent kidney calculi, and the secondary outcome was the 24-h urinary calcium level. The pooled risk ratio (RR), risk difference (RD), standardized mean difference (SMD), and 95% confidence interval (CI) were calculated. The evidence quality was graded using the GRADE criteria, and recommendations for recurrent kidney calculus prevention using thiazide diuretics were reassessed. RESULTS: Eight RCTs involving 571 patients were included. The pooled RR for the incidence of kidney calculi in the thiazide diuretic groups was 0.44 (95% CI 0.33-0.58, P < 0.0001) compared to that in the placebo and untreated groups; the pooled RD was - 0.23 (95% CI - 0.30 to - 0.16, P < 0.0001). The pooled SMD for the 24-h urinary calcium level was - 18.59 (95% CI - 25.11 to - 12.08, P < 0.0001). The thiazide diuretic groups had a high incidence of adverse reactions and low tolerance. The evidence quality for decrease in kidney calculus incidence using thiazide diuretics was low, while that for the 24-h urinary calcium level decrease among those with recurrent kidney calculi was moderate, and that for the decrease in kidney calculus incidence using short-acting and long-acting thiazide diuretics was low. The overall strength of recommendation for prevention of recurrent renal calculi using thiazide diuretics was not recommended. The subgroup and sensitivity analysis findings were robust. CONCLUSIONS: Long-term use of thiazide diuretics reduces the incidence of recurrent renal calculi and 24-h urinary calcium level. However, the benefits are insufficient, and the evidence quality is low. Considering the adverse effects, poor patient compliance, and economic burden of long-term medication, their use in preventing recurrent kidney calculi is not recommended.

[Molecular genetics study of ED1 gene for two X-linked hypohidrotic ectodermal dysplasia families].

OBJECTIVE: To provide genetic diagnosis and counseling for patients from two families affected with X-linked hypohidrotic ectodermal dysplasia. METHODS: Potential mutation of the ED1 gene was screened by DNA sequencing. For family 1, multiplex ligation-dependent probe amplification (MLPA) analysis and haplotyping of ED1 gene were also carried out for prenatal diagnosis. RESULTS: For the patient from family 1, deletion of the exon 1 of the ED1 gene and 2 short tandem repeat(STR) sites (DXS8269 and DXS1422) were detected. His daughter was carrier of the deletion. Upon prenatal diagnosis, the fetus was confirmed to be a normal male, for whom the haplotype of ED1 gene has differed from that of the proband. In family 2, a c.463C>T mutation in exon 3 of the ED1 gene was detected in the proband, whose mother was heterozygous for the same mutation. CONCLUSION: The deletion (exon 1) and missense (R155C) mutation in ED1 gene have probably underlied the disease in the two families. During prenatal diagnosis, it may be necessary to obtain precise results through combining mutation detection and haplotype analysis of the ED1 gene.

[Mutation analysis and prenatal diagnosis of families affected with Duchenne and Becker muscular dystrophy].

OBJECTIVE: To detect potential mutations for probands from families affected with Duchenne/Becker muscular dystrophy (DMD/BMD), and to carry out prenatal diagnosis through identification of female carriers. METHODS: A total of 43 DMD/BMD families were recruited. Multiplex PCR was used to analyze 18 exons within hotspots for DMD gene deletions. Multiplex ligation-dependent probe amplification (MLPA) was used to detect potential deletions and duplications of DMD gene for 43 patients and 36 females from 32 families. Prenatal diagnosis was performed for 27 families. RESULTS: Deletional mutations were detected in 26 patients with multiplex PCR. In addition, MLPA has detected 3 deletions and 6 duplicational mutations, and the ranges of mutations were all determined. Among 36 female members, 18 were determined as carriers of deletional mutations, 10 were excluded as mutation carriers. The status of remaining 8 could not be determined. For prenatal diagnosis, 3 out of 18 male fetuses were diagnosed as patients and 1 female fetus was identified as carrier. CONCLUSION: MLPA is an accurate and reliable method for detecting deletional/duplicational mutations of DMD gene as well as for prenatal diagnosis and detection of female carriers.

[Molecular genetic study of MECP2 gene for a patient with typical Rett syndrome].

OBJECTIVE: To provide genetic diagnosis and counseling for a 2-year-old girl with typical Rett syndrome through analyzing the methyl-CpG binding protein 2 (MECP2) gene. METHODS: Potential mutation of the MECP2 gene was screened by DNA sequencing and multiplex ligation-dependent probe amplification (MLPA) analysis of members of the family as well as normal controls. Lymphocyte culture for karyotype analysis was carried out for the patient to exclude chromosomal abnormalities. RESULTS: The karyotype of the girl was normal. No variation of the MECP2 gene was detected in the patient by direct sequencing. A heterozygosis variation, c.1072G>A in exon 4 of the MECP2 gene was detected in a normal female control, which was not found in other controls. The son and daughter of the female control were respectively heterozygous and homozygous carriers of the same mutation. By MLPA analysis, a heterozygosis deletion of exon 3 and part of exon 4 was detected in the patient. cDNA amplification and sequencing confirmed the presence of a 1176 bp deletion (c.27-1202del1176). The same deletion was not detected in the parents. CONCLUSION: A large deletion in MECP2 gene was detected with MLPA in a patient featuring typical Rett syndrome. The same deletion was missed by sequencing analysis. With cDNA sequencing, the breakage point of the mutation can be mapped precisely.

Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple osteochondromas.

BACKGROUND: Multiple osteochondromas (MO), an inherited autosomal dominant disorder, is characterized by the presence of multiple exostoses on the long bones. MO is caused by mutations in the EXT1 or EXT2 genes which encode glycosyltransferases implicated in heparin sulfate biosynthesis. METHODS: In this study, efforts were made to identify the underlying disease-causing mutations in patients from two MO families in China. RESULTS: Two novel EXT1 gene mutations were identified and no mutation was found in EXT2 gene. The mutation c.497T > A in exon 1 of the EXT1 gene was cosegregated with the disease phenotype in family 1 and formed a stop codon at amino acid site 166. The fetus of the proband was diagnosed negative. In family 2, the mutation c.1430-1431delCC in exon 6 of the EXT1 gene would cause frameshift and introduce a premature stop codon after the reading frame being open for 42 amino acids. The fetus of this family inherited this mutation from the father. CONCLUSIONS: Mutation analysis of two MO families in this study demonstrates its further application in MO genetic counseling and prenatal diagnosis.

[Mutation analysis and prenatal diagnosis of sporadic DMD/BMD families].

OBJECTIVE: To analyze the pathogenic mutation of sporadic patients in Duchenne/ Becker muscular dystrophy (DMD/BMD) families and to perform prenatal diagnosis, identify the female carriers and evaluate the ratio of de novo mutation in these pedigrees. METHODS: A total of 30 sporadic DMD/BMD families were included. Traditional multiplex PCR was used to detect the 18 exons in the deletion hot area of DMD gene. MLPA was used to detect the deletion or duplication mutations of DMD gene for 30 patients and 28 females from 23 families. Prenatal diagnosis was performed in 19 families. RESULTS: Deletion mutation was detected in 19 patients through mPCR. Twenty-one deletions and 3 duplication mutations were detected by MLPA. Among 21 mothers, 10 mothers were carriers of deletion mutation and two duplication mutation carriers. The other 9 mothers were non-carriers, the mutations in these families were de novo and the ratio was 37.5%. Among seven sisters, five were carriers and two non-carriers. In the prenatal diagnosis families, 2 of 8 female fetuses were carriers and 5 of 12 male fetus patients. CONCLUSION: The MLPA technique has proved to be an accurate and reliable tool not only for the deletion and duplication mutations of DMD patients, but also for the prenatal diagnosis and the female carriers in these families. Prenatal diagnosis;

[Application of multiplex quantitative fluorescent PCR with non-polymorphic loci in prenatal diagnosis].

OBJECTIVE: To explore the feasibility of application of multiplex quantitative fluorescent PCR with non-polymorphic loci in prenatal diagnosis of aneuploidies. METHODS: From Mar 2006 to Nov 2007, a total of 63 samples were collected from the Department of Obstetrics and Gynecology, Affiliated Drum Tower Hospital of Medical College, Nanjing University, including 54 villous samples obtained for karyotyping because of spontaneous abortion, six amniotic fluid samples of second trimester and three umbilical cord blood samples of third trimester. Blood samples of 60 healthy adults were obtained at the same time as a control group, including 30 males and 30 females. Non-polymorphic QF-PCR was performed on both testing group and control group for the detection of aneuploidies. The Amelogenin gene (AMXY) was selected as an internal control, and dosage quotiety (DQ) of each locus was calculated according to the known formula. If DQ was between 0.7 and 1.3, the sample was considered as normal. If the figure turned out to be > 1.3 or < 0.7, a potential duplication or deletion of the corresponding gene or chromosome was indicated. If the results implied numerical abnormalities in more than one euchromosome, sex chromosome aneuploidies should be considered. Cell culture and karyotyping were carried out for every sample simultaneously. The results of non-polymorphic QF-PCR were checked with karyotypes. RESULTS: (1) In the control group, all female samples presented only an AMX peak for sex chromosome while all males showed AMX and AMY amplified peaks. The AMY/AMX ratios were between 0.7 - 1.3, and SD was between 0.05 - 0.12. (2) Among 19 QF-PCR abnormal cases, 13 cases were proved by karyotyping. Of the six cases which turned out to be conflicting, one case of trisomy 18 shown by karyotyping was not completely detected by QF-PCR, a locus on chromosome 18 implied trisomy, while another turned out to be normal (DQ = 1.28). Four cases were detected by non-polymorphic QF-PCR as trisomies but showed normal female karyotype because of maternal contamination during cell culture. A karyotypingly '46, XY' case did not present an AMY peak. Thirty-six out of 44 (82%) normal results implied by non-polymorphic QF-PCR were in accordance with cytogenetic analysis. Of the other eight cases, one case which failed cytogenetic analysis was detected by QF-PCR as normal. Four cases showed multiploidy by karyotyping but normal in QF-PCR analysis, including three cases of 69, XXX, one case of 92, XXXX and one case of 45, XX, rob (13;21). The other two cases that showed normal male results turned out to be normal female karyotypes. CONCLUSIONS: Prenatal aneuploidy detection by non-polymorphic QF-PCR is feasible in a clinical diagnostic setting. With the advantages of high throughput, rapidness and low cost, this method shows a good prospect in clinical application.

[Protective effect of curcumin on oleic-induced acute lung injury in rats].

To investigate the effect of curcumine on acute lung injury induced by oleic acid in rat and the possible mechanism of action. The rats were divided into 6 groups randomly: normal group, control group, curcumine groups (5, 10, 20 mg x kg(-1)) and dexamethasone group (1 mg x kg(-1)). During the experiment, acute lung injury was induced by oleic acid in rat. The changes of dynamic lung compliance were recorded by anrise 2005 pulmonary function test apparatus, light microscope was used to examine histological changes and lung index as well as wet to dry weight ratio was calculated by weighting method. Lung vascular permeability and protein level in BALF were detected by ultraviolet spectrophotometry, and the concentrations of TNF-alpha, IL-6 and IL-10 in BALF were measured by enzyme linked immunosorbent assay (ELISA). The result showed that the changes of pulmonary compliance were inhibited and pulmonary function was improved by curcumine. The OA-induced elevation of lung index was restrained, as well as wet to dry weight ratio, lung vascular permeability, protein level, TNF-alpha (250.4 +/- 21.6 vs. 172.53 +/- 14.88, 122.2 +/- 10.98, 108.69 +/- 3.39) ng x L(-1), IL-6 (763.6 +/- 88.33 vs. 207.41 +/- 15.55, 172.13 +/- 21.91, 142.92 +/- 4.32) ng x L(-1) in BALF in curcumine groups, IL-10 (98.90 +/- 2.99 vs. 208.44 +/- 16.30, 218.43 +/- 6.23, 252.70 +/- 20.58) ng x L(-1) in BALF was increased, respectively significantly. Light microscope findings shown that the impairment in curcumine groups was far less severe than that in model groups. Pretreatment of curcumine showed beneficial effect on acute lung injury induced by oleic acid in rats. The mediation of both proinflammatory factor and anti-inflammatory factor by curcumine may be involved in mechanism of action of curcumine effects.

[Mutational analysis in a family with X-linked spondyloepiphyseal dysplasia tarda].

OBJECTIVE: To detect the mutation of the SEDL gene in an X-linked spondyloepiphyseal dysplasia tarda (SEDL) family. METHODS: Two patients and three females of the X-SEDL family were detected using reverse transcriptase PCR (RT-PCR) and sequence analysis. RESULTS: A G209A mutation of SEDL gene was detected in the cDNA sequences of the patients, which was confirmed by sequence analysis of the exon 4 of the SEDL gene. The daughter of the proband was a carrier of the mutation. CONCLUSION: Since the SEDL gene is relatively small, sequence analysis of cDNA of the SEDL gene was possible after extraction of total RNA followed by RT-PCR. Mutations in the open reading frame can be detected y by cDNA sequencing. It was relatively more rapid and direct than amplifying and detecting the exons one by one.

[Effect of resveratrol on chronic obstructive pulmonary disease in rats and its mechanism].

The purpose of this study is to establish COPD animal model by intra-tracheal instillation of bleomycin (BLM) once and exposure to cigarette smoke for continuous 27 d, and to observe the effects of the inhalation on the model. At the 29th day, blood samples were taken from cervical artery for blood-gas analysis and parameters of lung function were recorded. Bronchoalveolar lavage fluid (BALF) was collected to measure intercellular adhesion molecule-1 (ICAM-1) concentration. The results showed that atomization inhaled resveratrol could alleviate rat COPD lung injury accompanied by amelioration of pathological changes, increase the ratio of forced expiratory volume in 0.3 s (FEV0.3) and forced vital capacity (FVC), and decrease the ICAM-1 level in BALF. The ultimate reduction of inflammatory factors was involved, at least in part, in the mechanism of resveratrol effects.

[Evaluating the applicability of MoM in second trimester maternal serum to screening for Down's syndrome in Jiangsu province].

OBJECTIVE: To study the applicability of MultiCalc software to prenatal screening of Down's syndrome in Jiangsu province, China. METHODS: The gestational age-specific median of maternal serum marker was calculated by means of regression method. Regression functions for adjustment of Multiple of the Median (MoM) by weight were established for our own population. RESULTS: Before the adjustment by weight, the average level of alpha fetal protein(AFP) was 16% higher and the free beta-human chorionic gonadotrophin (beta-hCG) was 14% higher than those of the Caucasian in MultiCalc software respectively. But when the AFP and free beta-hCG results were converted to weight-adjusted MoM levels, the values were 0.99 and 1.02 respectively. The median of MoM of AFP and the free beta-hCG were 1.00 through the regression model of gestational age and weight adjustment. CONCLUSION: There was no difference of average weight-adjusted MoM levels between the Jiangsu population and the Caucasian, and the MultiCalc software was applicable to maternal serum screening for Down's syndrome of Jiangsu.

[Multiplex quantitative PCR detection for female carrier in an X-linked ichthyosis family].

OBJECTIVE: To analyze the pathogenic mutation of an X-linked ichthyosis (XLI) family, and identify the genetic diagnosis of three probable female carriers in this family. To evaluate the availability of different detect methods for steroid sulfatase (STS) gene mutation. METHODS: Peripheral blood samples were collected from the family, including the proband, proband's mother, younger sister, and younger female cousin, and 10 males and 10 females as controls. Ordinary PCR was used to detect whether there was STS gene deletion in the male proband. Then, multiplex quantitative fluorescent PCR (QF-PCR) was used to detect the STS gene in the proband and his 3 female family members. Fluorescence in situ hybridization (FISH) was used to authenticate the results of multiplex QF-PCR method. RESULTS: No amplified product of the exons 1-10 of STS gene deletion was detected by ordinary PCR in the proband. The proband's mother was diagnosed as a carrier, but his sister and cousin were diagnosed as normal females by multiplex QF-PCR. FISH confirmed the results of multiplex QF-PCR. CONCLUSION: Both multiplex QF-PCR and FISH are effective to detect the complete deletion mutation of STS gene and identify the female carrier, and multiplex QF-PCR is more convenient and automatic compared with FISH.

New tetranucleotide STRP markers for detecting the 22q11.2 deletion.

The 22q11.2 deletion syndrome is the most common microdeletion syndrome mainly characterized by hemizygous deletions and congenital heart defect (CHD). By using polymerase chain reaction (PCR), genotyping of short tandem repeat polymorphic (STRP) markers is a common and powerful means of detecting microdeletion. We have developed five new tetranucleotide repeat markers, 22D_4_1, 22D_4_2, 22D_4_3, 22D_4_4 and D22S873 in the proximal region of 22q11.2 deletion. To ascertain whether these markers could be used reliably in genotyping, we performed genotyping analysis on 200 unrelated individuals from a Chinese Han population and 67 CHD patients and their unaffected parents. Population data showed that the five markers met Hardy-Weinberg expectations and were highly polymorphic. By using the five markers, six of 67 CHD patients were determined to have a deletion within chromosome 22q11.2. Compared with dinucleotide markers, tetranucleotide markers produce weaker stutter bands and have no artificial multiband patterns. PCR amplification results from the five new tetranucleotide STRP markers were unambiguous and easier to interpret in genotyping. This study demonstrated that the five markers were efficient and reliable suggesting that genotyping using tetranucleotide STRP markers is an alterative approach to detect the deletion on chromosome 22q11.2 in clinical diagnosis and for genetic consultation.

[Detection and related analysis to chromosome 22q11 microdeletion in patients with congenital heart diseases].

OBJECTIVE: To ascertain 5 short tandem repeat (STR) markers as qualified tools for detecting chromosome 22q11 deletion and to understand the prevalence and clinical importance of the deletions in patients with congenital heart diseases (CHD) from Chinese Han population. METHODS: The authors selected 5 new tetranucleotide repeat markers, 22D_4_1, 22D_4_2, 22D_4_3, 22D_4_4 and D22S873 located in the proximal region of chromosome 22q11 deletion. One hundred and sixty-three unselected CHD patients and their unaffected parents were analyzed by genotyping of these new tetranucleotide STR markers to detect 22q11 deletion. With fluorescence in situ hybridization (FISH, LSI dual color DNA probe), the deletion status was confirmed in all patients with deletions and some patients without deletions. RESULTS: The heterozygosity of these STR markers in normal population was more than 0.7, except for 22D_4_1 and 22D_4_2 that were 0.65 and 0.52 respectively. Twelve cases of 163 CHD patients (7.36%) had the deletions at chromosome 22q11. The deletions were confirmed in 9 of 12 patients by FISH, except for 2 cases who had unique nested deletion and 1 case who had nested distal deletion. One hundred and ten patients were associated with ventricular septal defect (VSD); and 9 (8.18%) of these cases had microdeletion. Twenty-one patients were associated with tetralogy of Fallot (TOF); and 3 (14.3%) of these cases had microdeletion. CONCLUSION: This study demonstrated that genotyping of 5 STR markers was a useful mean of detecting 22q11 microdeletion in clinical diagnosis owing to its rapid experimental procedure, cost effectiveness and high resolution. 22q11 deletion was common in CHD patients, particularly in VSD and TOF patients, from Chinese Han population.

[Two different genetic analyses of spontaneously aborted specimen].

OBJECTIVE: To explore the feasibility of comparative genomic hybridization (CGH) to be used for analysis of spontaneously aborted tissue. METHODS: Thirty eight patients with spontaneous abortion were recruited in this study. The gestational age of these cases was between 49 and 91 days based on ultrasound scan. All specimens of chorionic villi were collected via the cervix. Conventional cytogenetic karyotyping and CGH analysis were carried out to detect chromosomal unbalanced abnormalities in the tissue specimens. RESULTS: CGH analysis was successful in all 38 cases, but cytogenetic karyotying failed in 7 cases. Identical results in both CGH and conventional cytogenetic analysis were obtained in 90% (28/31) cases. Discrepancy in result between cytogenetic and CGH results was shown in 3 cases. One case presented 46XY karyotype by karyotyping, whereas showed chromosome 3q(22)-q(24) aberration in CGH analysis. Two cases showed triploidy by karyotyping, but normal in CGH analysis. In the 7 cases that failed in cytogenetic analysis there were 3 cases showing aneuploidy in CGH analysis. CONCLUSION: CGH analysis is feasible to be used for identification of chromosomal unbalanced abnormalities related to spontaneous abortion.