STUDY QUESTION:What are the molecular mechanisms underlying hypoxia-induced male reproductive impairment? SUMMARY ANSWER:Hypoxia compromises Septin2 (Sept2) transcription in spermatogonia, which impedes spermatogonial proliferation through protein phosphatase 2A (PP2A)-dependent AKT dephosphorylation. WHAT IS KNOWN ALREADY:Hypoxia is associated with impaired spermatogenesis and poor sperm parameters in men. Spermatogonia proliferation, a crucial early step in spermatogenesis, is essential for maintaining the spermatogenic cell population and ensuring sperm quality. However, the connection between hypoxia and spermatogonial proliferation remains poorly understood, and treatment options for hypoxia-related reproductive disorders are limited. STUDY DESIGN SIZE DURATION:A cross-sectional study analyzed semen samples from 24 high-altitude (HA) residents, 6 pathological hypoxia (PH) patients, and 19 healthy controls to evaluate hypoxia-associated sperm parameter alterations. Complementary animal studies employing a hypobaric chamber-induced hypoxic mouse model (n = 5) confirmed reproductive impairments through assessment of birth rates, sperm quality, and testicular histopathology. Transcriptomic profiling of hypoxic versus normoxic mouse testes (n = 3/group) identified spermatogonial proliferation defects as a predominant pathological feature and pinpointed Sept2 as a candidate mediator. Subsequent mechanistic investigations employed in vitro hypoxic culture of spermatogonial cell lines under hypoxic conditions coupled with pharmacological modulation of PP2A activity in mice (n = 3-5 per intervention group) to delineate the underlying molecular pathways. PARTICIPANTS/MATERIALS SETTING METHODS:Semen parameters were evaluated using computer-assisted sperm analysis (CASA; for sperm concentration, count, and motility), morphological staining (Pap staining for sperm deformity), and eosin-nigrosin staining (for sperm viability). In the hypoxic mouse model, fertility outcomes were assessed through fertility assessment (mating experiments), sperm parameters (CASA), testicular histology (H&E staining), and spermatogonia proliferation (immunohistochemistry and qPCR). In hypoxic spermatogonial cell models, cell proliferation was detected using CCK-8, EdU incorporation, flow cytometry, and western blotting. Sept2 manipulation (knockdown/overexpression), followed by mechanistic analyses (dual-luciferase reporter assay, DNA pulldown/mass spectrometry, TMT-based quantitative proteomics, co-immunoprecipitation, etc.), was performed to investigate the mechanism underlying hypoxia-regulated spermatogonia proliferation. The SEPT2 inhibitor forchlorfenuron (FCF), the PP2A agonists celastrol, erlotinib, and FTY720, as well as PP2A inhibitor okadaic acid (OA) were used to investigate the role of the SEPT2-PP2A-AKT axis in male fertility regulation. MAIN RESULTS AND THE ROLE OF CHANCE:Both human populations (HA residents and PH patients) and mouse model consistently demonstrated hypoxia-related reproductive dysfunction. Mechanistic analyses revealed that hypoxia significantly downregulated Sept2 expression in spermatogonia, concomitant with impaired proliferative capacity. Sept2 knockdown in normoxic mice phenocopied the hypoxia-induced defects in spermatogenesis. Complementary in vitro studies confirmed that Sept2 depletion impaired spermatogonial proliferation by inducing G1-S phase arrest, while its overexpression mitigated hypoxia-related proliferative defects. Further investigation revealed that hypoxia disrupts Sept2 transcription by interfering with the binding of RNA polymerase II subunit A (POLR2A) to the Sept2 promoter. The consequent reduction in Sept2 expression led to stabilization of the B56γ regulatory subunit of PP2A, resulting in enhanced AKT dephosphorylation and subsequent suppressed spermatogonial proliferation. Pharmacological intervention with the PP2A inhibitor OA restored reproductive competence and sperm quality in hypoxic mice, whereas PP2A agonists exacerbated these deficits. LARGE SCALE DATA:RNA-seq data are deposited in China National Center for Bioinformation (CNCB) under accession number PRJCA035733. LIMITATIONS REASONS FOR CAUTION:This study focused on the effects of hypoxia on sperm parameters. Additional factors such as alterations in reproductive hormones and sexual function may contribute to hypoxia-induced infertility and warrant further research. WIDER IMPLICATIONS OF THE FINDINGS:This study identifies the SEPT2-PP2A/B56γ-AKT axis as a key regulator in hypoxia-related spermatogonia proliferation impairment. PP2A inhibitors such as OA may offer a therapeutic strategy to protect male fertility under hypoxic conditions. STUDY FUNDING/COMPETING INTERESTS:This work was supported by the National Natural Science Foundation of China (No. 82101688) and Natural Science Foundation of Chongqing (No. CSTB2022NSCQ-MSX0943). The authors have no conflicts of interest to declare.

Intrahepatic cholestasis of pregnancy (ICP) is a female pregnancy-specific disorder that is characterized by increased serum bile acid and adverse fetal outcomes. The aetiology and mechanism of ICP are poorly understood; thus, existing therapies have been largely empiric. Here we show that the gut microbiome differed significantly between individuals with ICP and healthy pregnant women, and that colonization with gut microbiome from ICP patients was sufficient to induce cholestasis in mice. The gut microbiomes of ICP patients were primarily characterized by Bacteroides fragilis (B. fragilis), and B. fragilis was able to promote ICP by inhibiting FXR signaling via its BSH activity to modulate bile acid metabolism. B. fragilis-mediated FXR signaling inhibition was responsible for excessive bile acid synthesis and interrupted hepatic bile excretion to ultimately promote the initiation of ICP. We propose that modulation of the gut microbiota-bile acid-FXR axis may be of value for ICP treatment.

The exact cause of complete endocardial cushion defect (ECD) is still unknown. This report describes a unique pair of monozygotic twins (MZ twins) discordant for ECD. The chromosome karyotyping analysis revealed normal karyotype of 46, XY, 16qh+ and mat in both MZ twins. A genome-wide analysis of DNA using the Affymetrix SNP 6.0 revealed identical genotyping of single nucleotide polymorphisms (SNPs) and copy number variations (CNVs). An extensive methylation assay was carried out by NimbleGen 3 × 720 K CpG Island Plus RefSeq Promoter Arrays to analyze the potential epigenetic differences. The DNA methylation profiles of the affected twin seemed increased compared with that of the unaffected twin. However, further validation of Notch1 promoter hypermethylation and six top-ranked differentially methylated CpG sites by sodium bisulfate modification and methylation-specific PCR, failed to reveal consistent methylation differences between the twins. Other relevant factors, such as heritability and penetrance of the condition that place the MZ twins near to a threshold for ECD or variations in local epigenetic events in the twins' heart tissues, are probably responsible for the phenotypic discordance.

P62 is a protein adaptor for various metabolic processes. Mice that lack p62 develop adult-onset obesity. However, investigations on p62 in reproductive dysfunction are rare. In the present study, we explored the effect of p62 on the reproductive system. P62 deficiency-induced reproductive dysfunction occurred at a young age (8 week old). Young systemic p62 knockout (p62 -/- ) and pituitary-specific p62 knockout (p62 flox/flox αGSU cre ) mice both presented a normal metabolic state, whereas they displayed infertility phenotypes (attenuated breeding success rates, impaired folliculogenesis and ovulation, etc.) with decreased luteinizing hormone (LH) expression and production. Consistently, in an infertility model of polycystic ovary syndrome (PCOS), pituitary p62 mRNA was positively correlated with LH levels. Mechanistically, p62 -/- pituitary RNA sequencing showed a significant downregulation of the mitochondrial oxidative phosphorylation (OXPHOS) pathway. In vitro experiments using the pituitary gonadotroph cell line LβT2 and siRNA/shRNA/plasmid confirmed that p62 modulated LH synthesis and secretion via mitochondrial OXPHOS function, especially Ndufa2, a component molecule of mitochondrial complex I, as verified by Seahorse and rescue tests. After screening OXPHOS markers, Ndufa2 was found to positively regulate LH production in LβT2 cells. Furthermore, the gonadotropin-releasing hormone (GnRH)-stimulating test in p62 flox/flox αGSU cre mice and LβT2 cells illustrated that p62 is a modulator of the GnRH-LH axis, which is dependent on intracellular calcium and ATP. These findings demonstrated that p62 deficiency in the pituitary impaired LH production via mitochondrial OXPHOS signaling and led to female infertility, thus providing the GnRH-p62-OXPHOS(Ndufa2)-Ca 2+ /ATP-LH pathway in gonadotropic cells as a new theoretical basis for investigating female reproductive dysfunction.

Asprosin is a white adipose tissue-derived hormone that increases abnormally in mammals with insulin resistance. However, the role of asprosin in polycystic ovary syndrome (PCOS), a disease partly characterized by insulin resistance, and its potential connection with type 2 diabetes mellitus (T2DM) and PCOS has not been thoroughly elucidated to date. To investigate the association of asprosin with metabolic profiles, sex-related hormones, or inflammation in females with T2DM or PCOS, plasma asprosin and metabolic indicators were measured in 66 healthy females, 53 female patients with T2DM, and 41 patients with PCOS. Spearman's correlation analysis and binary logistic regression analysis models were used. Plasma asprosin was significantly higher in T2DM females than in healthy subjects (P < 0.001) and was positively correlated with fasting blood glucose (FBG), hemoglobin A1c (HbA1c), and HOMA-IR (P < 0.05). Asprosin in PCOS subjects was also higher than in healthy subjects (P < 0.001) but lower than in T2DM subjects (P < 0.05), and it was positively correlated with FBG, HbA1c, HOMA-IR, LDL-c, APOB, APOE, and testosterone (P < 0.05). The BMI-categorized subgroups of PCOS subjects also showed correlations of asprosin with metabolic profiles and sex-related hormones. Binary logistic regression analysis revealed that plasma asprosin level acted as an independent risk factor for T2DM or PCOS. These findings suggest the correlation of plasma asprosin level with glucose metabolism, lipid metabolism, sex-related hormones, and inflammation in females, supporting asprosin as a potential predictive factor for females with metabolic-related diseases. This trial is registered with ChiCTR-ROC-17010719.

Medically unexplained physical symptoms in patients are abbreviated to MUPS. At present, they are treated as psychological disorders. Beginning with the definition of MUPS and the influence to medical diagnosis and treatment, this article discusses on the countermeasure, patient management, medical practice and medical ed-ucation on the basis of etiology analysis and systematic assessment.

目的:探讨介入超声微泡造影检查在评估瘢痕子宫妊娠引产风险的价值,以便指导临床安全有效地引产.方法:采用回顾性病例对照研究方法,以我院2008年至2014年期间住院引产的瘢痕子宫孕妇70例为研究对象,根据不同检查方式分为介入超声微泡造影检查组(n=20)和普通超声检查组(n=50),比较两组检出子宫瘢痕缺损、前置胎盘、子宫切口妊娠情况及出现产后出血、子宫破裂、子宫切除的情况.结果:微泡造影检查组检出子宫切口妊娠5例,前置胎盘3例,子宫瘢痕缺损面积直径大于5 mm者4例;普通超声检查组仅查出前置胎盘患者4例,两种检查方式,对于子宫切口妊娠和子宫瘢痕缺损的检出率差异有统计学意义(P＜0.05).对检出的高危孕妇,采取预防性措施后引产.微泡造影检查组产后出血1例;普通超声检查组产后出血4例、子宫破裂2例、子宫切除2例;微泡造影检查组产后并发症发生率小于普通超声检查组,但差异无统计学意义(5.0％ vs 14.0％,P＞0.05).结论:介入超声微泡造影对子宫切口妊娠、子宫瘢痕缺损的评估价值优于普通超声检查,通过明确胎盘与瘢痕关系及瘢痕缺损面积,有助于指导临床安全有效地引产.

Objective To detect chromosomal imbalance in a fetus with complex congenital heart disease,and to correlate the genotype with the phenotype.Methods Routine G-banding was carried out to analyze the karyotypes of the fetus and its parents,and single nucleotide polymorphisms array (SNP-array) was used for delineating fine genomic aberrations.The detected aberrations were confirmed with multiplex ligation-dependent probe amplification (MLPA).Results The fetus and its parents all showed a normal karyotype,while array-SNP has detected a 13.87 Mb duplication at 4p16.3-p15.33 and a 15.65 Mb deletion at 11q23.3-q25 in the fetus.The results were confirmed by the MLPA assay.Conclusion The partial trisomy 4p (Wolf-Hirschhorn syndrome) and partial monosomy 11q (Jacobsen syndrome) probably underlie the complex heart defects detected in the fetus.Analysis of the karyotypes of its parents offered no help for the determination of the aberrant type and recurrent risk.Compared with routine karyotype analysis,aberrant regions can be identified with array-SNP with greater resolution and accuracy.This has provided useful information for prenatal diagnosis and genetic counseling.

Balanced chromosomal rearrangement (or balanced chromosome abnormality, BCA) is a common chromosomal structural variation. Next-generation sequencing has been reported to detect BCA-associated breakpoints with the aid of karyotyping. However, the complications associated with this approach and the requirement for cytogenetics information has limited its application. Here, we provide a whole-genome low-coverage sequencing approach to detect BCA events independent of knowing the affected regions and with low false positives. First, six samples containing BCAs were used to establish a detection protocol and assess the efficacy of different library construction approaches. By clustering anomalous read pairs and filtering out the false-positive results with a control cohort and the concomitant mapping information, we could directly detect BCA events for each sample. Through optimizing the read depth, BCAs in all samples could be blindly detected with only 120 million read pairs per sample for data from a small-insert library and 30 million per sample for data from nonsize-selected mate-pair library. This approach was further validated using another 13 samples that contained BCAs. Our approach advances the application of high-throughput whole-genome low-coverage analysis for robust BCA detection-especially for clinical samples-without the need for karyotyping.

We examined a man and his daughter, who both had different jumping translocation karyotypes. The man's wife was pregnant and had been referred for prenatal diagnosis of the fetus. The karyotype of the husband's peripheral blood lymphocytes was 45,XY,der(16)t(16;22)(q24;q11.2), −22 [59]/45,XY,der(1)t(1;22)(p36;q11.2), −22 [11]/45,XY,der(22)t(22;22)(p13;q11.2), −22 [10]. The karyotype of the daughter's peripheral blood lymphocytes was 45,XX,der(16)t(16;22)(q24;q11.2), −22 [45]/45,XX,der(9)t(9;22)(q34;q11.2), −22 [30]/45,XX,der(5)t(5;22)(q35;q11.2), −22 [25]. The wife and the fetus both had a normal karyotype. To the best of our knowledge, the present familial transmitted jumping translocation has not been previously described and the jumping translocation in the husband and daughter did not cause any phenotypic abnormalities. © 2014 Wiley Periodicals, Inc.

Objective: To investigate 21 HPV genotypes infection in cervical cancer and cervical intraepithelial neoplasia ( CIN) , and the relationship between HPV infections and cervical cancer. Methods:Cases with chronic cervici-tis or abnormal cervical cells detected by liquid-based Thinprep cytology test ( TCT) had 21 HPV genotypes detected and accepted cervical biopsy during colposcopy. HPV infection status in 2 481 cases with cervical carcinoma or cervical intraep-ithelial neoplasia were analyzed. Results: Among 2 481 cases of CIN and cervical carcinoma, HPV-positive patients ac-counted for 85. 0%. There was statistically significant relevance between HPV infection and abnormal cervical histology (P<0. 001, Pearson correlation coefficient=0. 648). HPV16, HPV18 infection were most common in patients with CC and CINⅢ, CINⅡ, followed by HPV58, HPV 33, HPV31, HPV52, HPV45, HPV59, HPV68 subtype infections. In 304 pa-tients who got cervical infection with a subtype of HPV16, HPV18, HPV58, HPV52, HPV33, the incidence of high-grade squamous intraepithelial lesions (HSIL), atypical squamous cells of undetermined significance (ASCUS) and low-grade squamous intraepithelial lesions (LSIL) rose significant (P=0. 002, Pearson correlation coefficient=0. 322). Morover, CC, CIN III and CIN II had a high rate of HSIL, ASCUS. There were significant correlations between abnormal cervical cytology and histological results (P=0. 026, Pearson correla-tion coefficient=0. 172). Conclusion:Infection of high risk HPV types such as HPV16, HPV18, PHV58, HPV33, HPV52, HPV31, HPV45 is the main risk factor of cervical carcinoma ( CC) and precancerous lesion ( CIN) . With high-risk HPV infection, cervical cytologic diagnoses of HSIL, ASCUS and LSIL increase. The correlation between cytological and histological findings for CC and CIN promotes timely detection, prevention, intervention,and effective treatment.

Objective: To investigate the incidence of aneuploidy in fetuses with congenital heart defects (CHDs) and to further identify submicroscopic changes and global DNA methylation levels as potential biomarkers in complex CHD cases. Methods: Fetuses at high risk for birth defects or with obvious sonographic anomalies were recruited at the Prenatal Diagnosis Center and Ultrasonic Diagnosis Center. Elective fetal karyotyping and DNA copy number and promoter methylation analyses were carried out following parental consent. G-banded karyotyping was performed to detect fetal aneuploidy. Copy number variations (CNVs) were detected using the Affymetrix SNP Array 6.0 and validated by real time PCR. Global DNA methylation analyses were conducted using a Roche NimbleGen Human DNA Methylation 3x720K Array, and DNA methylation differences were assayed by a Sequenom MassARRAY EpiTYPER. Results: Conventional karyotyping identified 30 cases with aneuploidy in 179 CHD fetuses. Various CNVs were found in two aneuploid fetuses and in five euploid CHD fetuses. Verified segmental deletion or duplications were not directly associated with cardiovascular malformations except in DAAM1 and GATA6. Verifiable aberrant DNA methylation could not be identified in three complex CHD fetuses. Conclusions: In this study, Trisomy 18, Trisomy 21 and 45,XO were the most common aneuploidies identified in CHD fetuses. In the affected samples, only DAAM1 deletion and GATA6 amplification could be associated with cardiovascular biological processes.

Objective To evaluate the detection rate of massively parallel sequencing(MPS)-based screening for chromosome abnormality of fetus free DNAs in their mother’s plasma,and provide clinical data for this non-invasive prenatal screening.Methods A total of 5 997 pregnant women with an age from 18 to 46 and a gestational age from 12 to 36 weeks who receiving prenatal examination in our center from June 2011 to November 2012 were recruited in this study.Five milliliters of peripheral blood were collected,and then the fetus DNAs were extracted from mother plasma and barcoded.The libraries of each sample were pooled and subjected to Illumina GAⅡx analyzer.Short reads were analyzed by binary hypothesized t tests and L-score analysis.Positive results of MPS were validated by cordocentesis based karyotyping.Results A total of 113 patients were found to be abnormal by MPS.Among them,89 mothers accepted cordocentesis based karyotyping,and the obtained sensitivity for trisomy 21 and trisomy 18 were 100%(28 /28) and 87.5%(7 /8),respectively.However,the sensitivity for sex chromosome abnormality was 33.3%(14 /42).Routine screening for Down’s syndrome showed a false negative ratio of 11.8%(2 /17),while MPS had no false ratio.The age(P = 0.261) and gestational weeks(P = 0.309) had no significant effect on the detection rates of MPS.Conclusion Noninvasive MPS screening is a more reliable detection for trisomy 21 than conventional routine screening for Down’s syndrome,and is suitable for large-scale screening for trisomy 21 to reduce the ratio of invasive cordocentesis based karyotyping.

Aortic coarctation is a life-threatening defect when it occurs with cardiorespiratory failure. Its genetic cause remains unknown. A woman was pregnant twice, both with male fetuses that had partial trisomy 18p, partial monosomy 18q, and aortic coarctation. The syndrome may relate to the aortic coarctation and pulmonary hypoplasia and is life-threatening. ArrayCGH analysis suggested a de novo 17.7 Mb deletion of chromosome 18q21.33 → qter (58,413,193 bp to 76,116,029 bp) and a de novo 12.4 Mb duplication of chromosome 18pter → p11.21 (1543 bp to 12,438,430 bp) at the telomeric end of chromosome 18. To the best of our knowledge, the present chromosomal breakpoint with rearrangement has not been previously described. This chromosome aberration may be responsible for this syndrome.

目的 对亨廷顿舞蹈病一家系进行遗传学分析,为家系成员提供遗传咨询和诊断,为研究舞蹈病的发病机制和治疗方法提供依据.方法 对患者进行家系调查和系谱分析,收集家系成员的临床资料,提取家系成员的外周血以及羊水基因组DNA进行遗传学分析.结果 通过基因诊断确诊了家系中一早发型舞蹈病患者,检出了1名症状前患者,并经羊水DNA分析对1名22周胎儿进行了产前诊断.基因测序发现,先证者突变IT15基因CAG重复次数为66,症状前患者为48次,胎儿为69次.结论 该家系具有亨廷顿舞蹈病典型的遗传学特征和临床特征,通过分子遗传学手段对家系成员进行基因确诊、症状前诊断乃至产前诊断有着非常重要的意义.

Syndactyly type IV (SD4) is inherited in an autosomal dominant fashion and characterized by complete cutaneous syndactyly of all fingers accompanied with polydactyly. Triphalangeal thumb–polysyndactyly syndrome (TPTPS) consists of a triphalangeal thumb, polydactyly, and syndactyly and is transmitted in an autosomal dominant manner with variable expression. Genomic duplications of the long-range limb-specific cis-regulator (ZRS) cause SD4 and TPTPS. Here, we report two individuals from a Chinese family with syndactyly. One individual had overlapping clinical symptoms of TPTPS and SD4, while the other had a typical SD4 with postaxial polydactyly of the toe. Results of quantitative PCR suggested that the duplication of ZRS involved all affected individuals, and array comparative genomic hybridization detected its size as 115.3 kb. Conclusion: This work confirms the genetic homogeneity of SD4 and TPTPS. Our result expands the spectrum of ZRS duplications. TPTPS and SD4 should be considered as a continuum of phenotypes.

Objective To identify the relationship between Turner syndrome mosaic karyotype and clinical manifestations,and the effect on the procreation,prenatal diagnosis and pregnancy outcome by studying mosaic karyotype analysis,clinical signs and symptoms,procreation and prenatal diagnosis in Turner syndrome.Methods A total of 27 Turner syndrome mosaicism patients whose age were 12 to 19 in the Center of Prenatal Diagnosis from July 2005 to September 2011 were enrolled in these study.Another 5 Turner syndrome fetuses found in prenatal diagnosis with health mothers were also collected.Their karyotype was analyzed by karyotype analysis and chromosome G-band.The clinical manifestations were studied by gynecological ultrasonography and examination,sex hormone,procreation and pregnancy outcome by prenatal diagnosis.The relationship among their karyotype and clinical signs and symptoms,prenatal diagnosis and pregnancy outcome was investigated.Results The gonadal hormone and growth hormone of 45,X mosaicism were lower than normal levels.Among 27 patients,there were only 2 having potential generandi but congenital dysplastic fetus.Among 5 Turner syndrome fetuses,there were 4 induced abortion due to birth defects and 1 growing normally and given a birth.Conclusion The clinical manifestations and severity of Turner syndrome is related to the percentage of abnormal karyotype.The larger the percentage is,the more severe the manifestations are.But few cases may disobey to this law.When the fetus are 45,X mosaicism during prenatal diagnosis,the pregnancy outcome is related to percentage of abnormal karyotype and fetal system ultrasound results.

Background With an increasing incidence of congenital heart defects (CHDs) in recent years, genotype-phenotype correlation and array-based methods have contributed to the genome-wide analysis and understanding of genetic variations in the CHD population. Here, we report a copy number deletion of chromosomal 14q23.1 in a female fetus with complex congenital heart defects. This is the first description of DAAM1 gene deletion associated with congenital heart anomalies. Case Presentation Compared with the control population, one CHD fetus showed a unique copy number deletion of 14q23.1, a region that harbored DAAM1 and KIAA0666 genes. Conclusions Results suggest that the copy number deletion on chromosome 14q23.1 may be critical for cardiogenesis. However, the exact relationship and mechanism of how DAAM1 and KIAA0666 deletion contributes to the onset of CHD is yet to be determined.

目的探讨唐氏综合征血清学筛查在产前诊断唐氏综合征缺陷儿中的作用,降低出生缺陷的发病率,提高优生优育;方法取孕14-18w孕妇静脉血2ml,采用时间分辨荧光法对其进行筛查后,采取回顾性分析的方法进行统计分析,对切割值在1/250以下的孕妇采取羊水穿刺,进行核型分析;结果8864例唐氏筛查孕妇中:唐筛阳性430例,占4.8%;唐筛阳性中行羊水穿刺365例,占84.8%,发现21-三体综合征8例,占2.2%;全部异常病例经脐血穿刺确诊,无1例误诊,均全部终止妊娠;未行羊水穿刺65例,占15.2%;随访61例,1例孕妇生育21-三体儿;唐氏筛查阴性的孕妇中,随访7136例,随访率80.5%,1例胎儿出生后诊断为21-三体综合征,假阴性率:0.0001%;结论唐氏综合征血清学筛查阳性的孕妇进行羊水穿刺检查有助于降低唐氏综合征患儿的出生,提高优生优育,降低了出生缺陷的发病率,在优生优育中起到了重要作用。

<正>唐氏综合征是人类常见的染色体数目异常所致的遗传疾病,在活产儿中发病率为1/600～1/800,这些疾病尚缺乏有效治疗手段,幸存者智力低下,并伴有遗传性[1]。目前在发达国家,大多数35岁以下的孕妇都能接受孕妇血清标志物检