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Sample records for chromosomally abnormal pregnancies

  1. Variation in the levels of pregnancy-specific beta-1-glycoprotein in maternal serum from chromosomally abnormal pregnancies.

    Science.gov (United States)

    Graham, G W; Crossley, J A; Aitken, D A; Connor, J M

    1992-06-01

    Human pregnancy-specific beta-1-glycoprotein (SP1) was assayed retrospectively in stored maternal serum (MS) samples from 82 chromosomally abnormal pregnancies and 377 matched controls. The median MSSP1 concentration in 48 Down's syndrome pregnancies was significantly elevated at 1.17 multiples of the control median (MOM), and significantly reduced (0.5 MOM) in a group of eight cases of unbalanced translocations. There was no significant difference in median SP1 concentrations in cases of trisomy 18, trisomy 13, balanced translocations, or sex chromosome abnormalities. A comparison with human chorionic gonadotrophin results in the same series of samples indicates that SP1 is a less sensitive predictor of Down's syndrome pregnancies. PMID:1387478

  2. Effectiveness of Increased Nuchal Translucency in Detecting Pregnancies at Risk for Chromosomal Abnormalities

    Directory of Open Access Journals (Sweden)

    Lorna González Herrera

    2014-02-01

    Full Text Available Background: assessment of embryonic anatomy by ultrasound since early ages leads to the detection of pregnancies at risk for chromosomal abnormalities. Advanced maternal age alone is not enough. Objective: to assess the results of the nuchal translucency measurement at the first trimester ultrasound as a sonographic marker of chromosomal abnormalities.Methods: a sample of 29 334 pregnant women was studied from September 2006 to December 2010. General performance of the sonographic marker was assessed taking into account the years and maternal age. Effectiveness of increased nuchal translucency in the indirect detection of chromosomal abnormalities was determined using the common parameters. Results: the net number of increased nuchal translucencies diminished over the years, as well as the absolute amount of prenatal karyotypes performed; but its proportion increased along with the positive prenatal karyotypes among women with increased nuchal translucency. Among the 71 fetuses with increased translucency, seven cases of chromosomal abnormalities were confirmed by other elements of the prenatal program. The sensitivity of the isolated nuchal translucency was 14.6%; specificity was high (99.8%; positive and negative predictive values were 18.4% and 99.9%, respectively. Rates of false positives were very low. Conclusions: high specificity reaffirms nuchal translucency as a good early marker of risk for chromosomal abnormalities, particularly Down syndrome and Trisomy 18, with a minimum rate of indications for invasive testing and an extra increase in the detection of fetal defects.

  3. Abnormal pregnancy of balanced chromosomal translocation carriers%染色体平衡易位与异常孕产

    Institute of Scientific and Technical Information of China (English)

    李忻; 杨鑫; 张韫; 靳耀英

    2011-01-01

    目的 探讨染色体平衡易位与异常孕产的关系.方法 用常规方法制备外用血淋巴细胞染色体标本,对有异常孕产史的夫妇进行染色体G显带核型分析.结果 检出染色体平衡易位携带者15例中,女12例,男3例.平衡携带者表型及智力均无明显异常.结论 染色体平衡易位携带者妊娠结局以孕早期流产为主,染色体平衡易位是造成临床流产、死胎、生育畸形儿的重要原因之一.对平衡易位携带者再次妊娠时必须做产前诊断,控制不良遗传因素个体的出生.%Objective;To investigate the relationship between balanced chromosomal translocation and abnormal pregnancy. Methods: Chromosomal karyotypes were examined in married couples with a history of abnormal pregnancy by periphery blood lymphocyte culture and carried out C banding. Results;We detected IS cases with balanced chromosomal translocation, 12 cases were female and 3 cases were male. Phenotype and intelligence in the carriers of balanced chromosomal translocation were not significantly abnormal. Conclusion: Spontaneous abortion in the first trimester is the main mode of abnormal pregnancy in the carriers of balanced chromosomal translocation, there is a close relationship between balanced translocations and spontaneous abortions. Cvtogenetic deception is necessary for carriers and their families in fundamental hospital, it can be helpful for prenatal diagnosis and eugenic.

  4. CHROMOSOMAL ABNORMALITIES IN PATIENTS WITH RECURRENT MISCARRIAGE

    OpenAIRE

    Daniela Mierla; Viorica Radoi; Veronica Stoian

    2012-01-01

    Chromosomal abnormalities are involved in the etiology of recurrent spontaneous pregnancy loss and sub-fertility. The purpose of this study was to determine the frequency and contribution of chromosomal abnormalities in recurrent miscarriages. The results obtained and literature review are helpful in understanding the importance of cytogenetics analysis of female infertility. To investigate the distribution of chromosomal abnormalities in the Romanian population with recurrent miscarriage, ka...

  5. CHROMOSOMAL ABNORMALITIES IN PATIENTS WITH RECURRENT MISCARRIAGE

    Directory of Open Access Journals (Sweden)

    Daniela Mierla

    2012-06-01

    Full Text Available Chromosomal abnormalities are involved in the etiology of recurrent spontaneous pregnancy loss and sub-fertility. The purpose of this study was to determine the frequency and contribution of chromosomal abnormalities in recurrent miscarriages. The results obtained and literature review are helpful in understanding the importance of cytogenetics analysis of female infertility. To investigate the distribution of chromosomal abnormalities in the Romanian population with recurrent miscarriage, karyotype analysis by G-banding was performed from peripheral blood in 967 women infertility. Results: Chromosomal abnormalities were found to 79 women (8,17%. The percentage of chromosomal abnormalities in the studied population correlates with the data in the literature. Chromosomal abnormalities could play the important role in etiology of infertility and are more frequently detected in this group of patients compared to general population. In the infertile couples balanced chromosomal abnormalities are the main cause of spontaneous abortions.

  6. Chromosomal abnormalities and autism

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    Farida El-Baz

    2016-01-01

    Conclusion: Chromosomal abnormalities were not detected in the studied autistic children, and so the relation between the genetics and autism still needs further work up with different study methods and techniques.

  7. Sonographically determined anomalies and outcome in 170 chromosomally abnormal fetuses

    OpenAIRE

    Wladimiroff, Juriy; Bhaggoe, W.; Kristelijn, M. J E; Cohen-Overbeek, Titia; Hollander, Nicolette; Brandenburg, Helen; Los, F.J.

    1995-01-01

    textabstractStructural pathology and outcome were studied in 170 chromosomally abnormal fetuses. Numerical chromosomal abnormalities were established in 158 (93 per cent) cases, of which 110 (71 per cent) represented trisomies, 30 (18 per cent) Turner syndrome, and 18 (11 per cent) triploidy. Structural chromosomal abnormalities were diagnosed in 12 (7 per cent) cases. Gestational age at referral was significantly shorter for pregnancies with Turner syndrome than for the other chromosomal abn...

  8. 573例不良孕产夫妇染色体异常病例与对照组研究%A case - control study on chromosome for couples with abnormal pregnancy

    Institute of Scientific and Technical Information of China (English)

    张清健; 蔡慧娜; 方俊宇; 朱志勇; 郑立新; 田佩玲; 叶嘉玲; 杨卫; 王柏贤; 徐珊珊; 周冰燚; 赵文忠

    2012-01-01

    Objective: To discuss the genetic effect of the chromosomal abnormality and chromosomal polymorphism on abnormal pregnancy. Methods; karyotype analysis and statistical treatment were conducted on 573 couples with abnormal pregnancy and 449 cases of infertile couples. Results: There were no statistical difference in the occurrence rates of balanced translocation, robertsonian translocation, inversion, mosaic and inv(9) between couples with abnormal pregnancy and infertile couples. But there were statistical difference in the occurrence rates of chromosome abnormal in number and Yqh + between two groups. Conclusion: Abnormal chromosomes in number is not one of the main reasons to cause abnormal pregnancy, but abnormal chromosomes in structure. Yqh + can cause abnormal pregnancy in the carriers, but inv(9) can not cause abnormal pregnancy in the carriers.%目的 探讨不良孕产中染色体异常和多态的遗传学效应.方法 对573对不良孕产夫妇与同期449对非不良孕产不孕夫妇进行染色体核型分析和统计学处理.结果 染色体数目异常和Yqh+在不良孕产夫妇组与非不良孕产不孕夫妇组的发生率有统计学差异;而染色体平衡易位、罗氏易位、倒位、嵌合体以及染色体inv(9)多态在两组的发生率无统计学差异.结论 染色体结构异常而非数量异常是导致不良孕产的重要原因之一,染色体多态中Yqh+也可导致不良孕产,而inv (9)不会导致不良孕产.

  9. Chromosomal Abnormalities in ADHD

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    J Gordon Millichap

    2002-07-01

    Full Text Available The prevalence of fragile X syndrome, velocardiofacial syndrome (VCFS, and other cytogenetic abnormalities among 100 children (64 boys with combined type ADHD and normal intelligence was assessed at the NIMH and Georgetown University Medical Center.

  10. First trimester ultrasound screening of chromosomal abnormalities

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    Trninić-Pjević Aleksandra

    2007-01-01

    Full Text Available Introduction: A retrocervical subcutaneous collection of fluid at 11-14 weeks of gestation, can be visualized by ultrasound as nuchal translucency (NT. Objective. To examine the distribution of fetal nuchal translucency in low risk population, to determine the detection rate of chromosomal abnormalities in the population of interest based on maternal age and NT measurement. Method. Screening for chromosomal defects, advocated by The Fetal Medicine Foundation (FMF, was performed in 1,341 pregnancies in the period January 2000 - April 2004. Initial risk for chromosomal defects (based on maternal and gestational age and corrected risk, after the NT measurement, were calculated. Complete data were collected from 1,048 patients. Results. Out of 1,048 pregnancies followed, 8 cases of Down’s syndrome were observed, 7 were detected antenatally and 6 out of 7 were detected due to screening that combines maternal age and NT measurement. According to our results, sensitivity of the screening for aneuploidies based on maternal age alone was 12.5% and false positive rate 13.1%, showing that screening based on NT measurement is of great importance. Screening by a combination of maternal age and NT, and selecting a screening-positive group for invasive testing enabled detection of 75% of fetuses with trisomy 21. Conclusion. In screening for chromosomal abnormalities, an approach which combines maternal age and NT is effective and increases the detection rate compared to the use of any single test. .

  11. CHROMOSOMAL ABNORMALITIES IN PATIENTS WITH SPERM DISORDERS

    OpenAIRE

    L. Y. Pylyp; L. A. Spinenko; V. D. Zukin; N. M. Bilko

    2013-01-01

    Chromosomal abnormalities are among the most common genetic causes of spermatogenic disruptions. Carriers of chromosomal abnormalities are at increased risk of infertility, miscarriage or birth of a child with unbalanced karyotype due to the production of unbalanced gametes. The natural selection against chromosomally abnormal sperm usually prevents fertilization with sperm barring in cases of serious chromosomal abnormalities. However, assisted reproductive technologies in general and intrac...

  12. Numerically abnormal chromosome constitutions in humans

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1993-12-31

    Chapter 24, discusses numerically abnormal chromosome constitutions in humans. This involves abnormalities of human chromosome number, including polyploidy (when the number of sets of chromosomes increases) and aneuploidy (when the number of individual normal chromosomes changes). Chapter sections discuss the following chromosomal abnormalities: human triploids, imprinting and uniparental disomy, human tetraploids, hydatidiform moles, anomalies caused by chromosomal imbalance, 13 trisomy (D{sub 1} trisomy, Patau syndrome), 21 trisomy (Down syndrome), 18 trisomy syndrome (Edwards syndrome), other autosomal aneuploidy syndromes, and spontaneous abortions. The chapter concludes with remarks on the nonrandom participation of chromosomes in trisomy. 69 refs., 3 figs., 4 tabs.

  13. Clinical Analysis of the Relationship between Balanced Chromosomal Translocation and Abnormal Pregnancy%染色体平衡易位携带者引起不良孕育的临床分析

    Institute of Scientific and Technical Information of China (English)

    沈红霞; 尹坤

    2015-01-01

    目的:通过对2450例有自然流产、死胎、畸胎、少精等不良孕育史的患者的染色体结果调查,探讨平衡易位与不良孕育史的关系。方法:取外周血进行淋巴细胞培养,染色体G显带分析。结果:2450例患者中检出染色体平衡易位22例(罗伯逊易位3例),占0.90%。患者表现为自然流产、死胎、畸形儿、少精等不良孕育史。结论:染色体平衡易位是导致患者不良孕育史的重要原因之一。对这类人群进行遗传优生和产前诊断及辅助生殖指导等有针对性的检查和临床干预是非常必要的。%Objective: To investigate 2 450 patients' chromosomes with a history of abnormal pregnancy such as spontaneous abortion, fetal death, teratism, and oligospermia and to explore the relationship between balanced chromosomal translocation and abnormal pregnancy. Methods:Chromosomal analysis was made by peripheral lymphocytes culture and G-banding. Results:22 cases of balanced translocation were discovered(3 cases of robertsonian translocation)accounting for 0.90%. Spontaneous abortion, fetal death, teratism, and oligospermia were main manifestations of abnormal pregnancy. Conclusion:Balanced chromosomal translocation was a major reason for abnormal pregnancy. Examination of heredity and prepotency, prenatal diagnosis, guidance on assisted production were necessary for balanced chromosomal translocation carriers.

  14. Chromosomal phenotypes and submicroscopic abnormalities

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    Devriendt Koen

    2004-01-01

    Full Text Available Abstract The finding, during the last decade, that several common, clinically delineated syndromes are caused by submicroscopic deletions or, more rarely, by duplications, has provided a powerful tool in the annotation of the human genome. Since most microdeletion/microduplication syndromes are defined by a common deleted/duplicated region, abnormal dosage of genes located within these regions can explain the phenotypic similarities among individuals with a specific syndrome. As such, they provide a unique resource towards the genetic dissection of complex phenotypes such as congenital heart defects, mental and growth retardation and abnormal behaviour. In addition, the study of phenotypic differences in individuals with the same microdeletion syndrome may also become a treasury for the identification of modifying factors for complex phenotypes. The molecular analysis of these chromosomal anomalies has led to a growing understanding of their mechanisms of origin. Novel tools to uncover additional submicroscopic chromosomal anomalies at a higher resolution and higher speed, as well as the novel tools at hand for deciphering the modifying factors and epistatic interactors, are 'on the doorstep' and will, besides their obvious diagnostic role, play a pivotal role in the genetic dissection of complex phenotypes.

  15. Analysis of chromosome abnormality in 261 couples with aderverse pregnancy outcome history in Guangzhou%广州地区不良孕产史夫妇外周血异常核型分析

    Institute of Scientific and Technical Information of China (English)

    夏冰; 叶长烂; 张中芬; 郑霖; 江悦华; 王捷

    2011-01-01

    Objective: To explore the types of chromosome abnormality in the couples with aderveree pregnancy outcome history. Method: Cytogenetic analysis with C -staining method was performed on the peripheral blood lymphocyte cultures of 261 couples with abnormal pregnancy - labor history. Results: Chromosome abnormalities were found in 80 patients, including 9 of reciprocal transloca-tion, 1 mosaic Turner syndrome, 70 of chromosome heteromorphism which included 10 of small pericentric inversion of chromosome 9, 16 of increase in length of heterochromatin on long arm of chromosomes, 36 of increase/decrease in satellite length or double satellites on short arms of chromosomes in D and C groups, and 8 of increase/decrease in length of Y chromosome. Conclusion; The chromosome abnormalities of the couples with adverse pregnancy outcome history are mainly balanced reciprocal translocations and chromosome heteromorphism, and the high incidence of the latter in such couples suggests that it has some clinical effects.%目的 观察不良孕产夫妇异常染色体分布类型及其与不良孕产的关系.方法 对261对不良孕产夫妇外周血淋巴细胞进行细胞遗传学分析,采用G显带方法.结果 261对不良孕产史夫妇染色体异常80例(15.3%),其中相互易位9例;Turner嵌合体1例;染色体异态70例,包括9号染色体小臂间倒位10例,次缢痕长度增加16例,D组、G组短臂的随体长度增加或减少或双随体共36例,大Y、小Y共8例.结论 不良孕产夫妇染色体异常主要为平衡易位和多种染色体异态,后者在不良孕产史夫妇中的高发生率提示其具有一定临床效应.

  16. Pregnancy Complications: Umbilical Cord Abnormalities

    Science.gov (United States)

    ... report card Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Body & lifestyle changes Is it safe? ... Careers Archives Health Topics Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Body & lifestyle changes Is it safe? ...

  17. Detection of chromosomal abnormalities, congenital abnormalities and transfusion syndrome in twins

    DEFF Research Database (Denmark)

    Sperling, Lene; Kiil, C; Larsen, L U;

    2007-01-01

    by specialists in fetal echocardiography. Zygosity was determined by DNA analysis in all twin pairs with the same sex. RESULTS: Among the 495 pregnancies the prenatal detection rate for severe structural abnormalities including chromosomal aneuploidies was 83% by the combination of a first-trimester nuchal...

  18. Chromosomal abnormalities in patients with sperm disorders

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    L. Y. Pylyp

    2013-02-01

    Full Text Available Chromosomal abnormalities are among the most common genetic causes of spermatogenic disruptions. Carriers of chromosomal abnormalities are at increased risk of infertility, miscarriage or birth of a child with unbalanced karyotype due to the production of unbalanced gametes. The natural selection against chromosomally abnormal sperm usually prevents fertilization with sperm barring in cases of serious chromosomal abnormalities. However, assisted reproductive technologies in general and intracytoplasmic sperm injection in particular, enable the transmission of chromosomal abnormalities to the progeny. Therefore, cytogenetic studies are important in patients with male factor infertility before assisted reproduction treatment. The purpose of the current study was to investigate the types and frequencies of chromosomal abnormalities in 724 patients with infertility and to estimate the risk of chromosomal abnormalities detection in subgroups of patients depending on the severity of spermatogenic disruption, aiming at identifying groups of patients in need of cytogenetic studies. Karyotype analysis was performed in 724 blood samples of men attending infertility clinic. Chromosomal preparation was performed by standard techniques. At least 20 GTG-banded metaphase plates with the resolution from 450 to 750 bands per haploid set were analysed in each case. When chromosomal mosaicism was suspected, this number was increased to 50. Abnormal karyotypes were observed in 48 (6.6% patients, including 67% of autosomal abnormalities and 33% of gonosomal abnormalities. Autosomal abnormalities were represented by structural rearrangements. Reciprocal translocations were the most common type of structural chromosomal abnormalities in the studied group, detected with the frequency of 2.6% (n = 19, followed by Robertsonian translocation, observed with the frequency of 1.2% (n = 9. The frequency of inversions was 0.6% (n = 4. Gonosomal abnormalities included 14 cases

  19. Advances in understanding paternally transmitted Chromosomal Abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Marchetti, F; Sloter, E; Wyrobek, A J

    2001-03-01

    Multicolor FISH has been adapted for detecting the major types of chromosomal abnormalities in human sperm including aneuploidies for clinically-relevant chromosomes, chromosomal aberrations including breaks and rearrangements, and other numerical abnormalities. The various sperm FISH assays have been used to evaluate healthy men, men of advanced age, and men who have received mutagenic cancer therapy. The mouse has also been used as a model to investigate the mechanism of paternally transmitted genetic damage. Sperm FISH for the mouse has been used to detect chromosomally abnormal mouse sperm, while the PAINT/DAPI analysis of mouse zygotes has been used to evaluate the types of chromosomal defects that can be paternally transmitted to the embryo and their effects on embryonic development.

  20. Abnormal Chromosome Segregation May Trigger Tumors

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    @@ Cancer is a primary threat to human health as it kills millions of people each year.Scientists have shown that 75% of human cancers have an abnormal number of chromosomes in cells,and the proportion of the cells with an abnormal chromosome number is tightly and positively related to malignance progression and metastasis of cancers. But the pathological mechanism behind the anomaly still remains unknown.

  1. Fetal calcifications are associated with chromosomal abnormalities.

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    Ellika Sahlin

    Full Text Available The biological importance of calcifications occasionally noted in fetal tissues (mainly liver at autopsy or ultrasound is largely unexplored. Previous reports hint at an association to infection, circulatory compromise, malformations or chromosomal abnormalities. To identify factors associated with calcifications, we have performed a case-control study on the largest cohort of fetuses with calcifications described thus far.One-hundred and fifty-one fetuses with calcifications and 302 matched controls were selected from the archives of the Department of Pathology, Karolinska University Hospital. Chromosome analysis by karyotyping or quantitative fluorescence-polymerase chain reaction was performed. Autopsy and placenta reports were scrutinized for presence of malformations and signs of infection.Calcifications were mainly located in the liver, but also in heart, bowel, and other tissues. Fetuses with calcifications showed a significantly higher proportion of chromosomal abnormalities than controls; 50% vs. 20% (p<0.001. The most frequent aberrations among cases included trisomy 21 (33%, trisomy 18 (22%, and monosomy X (18%. A similar distribution was seen among controls. When comparing cases and controls with chromosomal abnormalities, the cases had a significantly higher prevalence of malformations (95% vs. 77%, p=0.004. Analyzed the other way around, cases with malformations had a significantly higher proportion of chromosomal abnormalities compared with controls, (66% vs. 31%, p<0.001.The presence of fetal calcifications is associated with high risk of chromosomal abnormality in combination with malformations. Identification of a calcification together with a malformation at autopsy more than doubles the probability of detecting a chromosomal abnormality, compared with identification of a malformation only. We propose that identification of a fetal tissue calcification at autopsy, and potentially also at ultrasound examination, should infer

  2. Molecular cytogenetic studies in structural abnormalities of chromosome 13

    Energy Technology Data Exchange (ETDEWEB)

    Lozzio, C.B.; Bamberger, E.; Anderson, I. [Univ. of Tennessee, Knoxville, TN (United States)] [and others

    1994-09-01

    A partial trisomy 13 was detected prenatally in an amniocentesis performed due to the following ultrasound abnormalities: open sacral neural tube defect (NTD), a flattened cerebellum, and lumbar/thoracic hemivertebrae. Elevated AFP and positive acetylcholinesterase in amniotic fluid confirmed the open NTD. Chromosome analysis showed an extra acrocentric chromosome marker. FISH analysis with the painting probe 13 showed that most of the marker was derived from this chromosome. Chromosomes on the parents revealed that the mother had a balanced reciprocal translocation t(2;13)(q23;q21). Dual labeling with painting chromosomes 2 and 13 on cells from the mother and from the amniotic fluid identified the marker as a der(13)t(2;13)(p23;q21). Thus, the fetus had a partial trisomy 13 and a small partial trisomy 2p. The maternal grandfather was found to be a carrier for this translocation. Fetal demise occurred a 29 weeks of gestation. The fetus had open lumbar NTD and showed dysmorphic features, overlapping fingers and imperforate anus. This woman had a subsequent pregnancy and chorionic villi sample showed that this fetus was normal. Another case with an abnormal chromosome 13 was a newborn with partial monosomy 13 due to the presence of a ring chromosome 13. This infant had severe intrauterine growth retardation, oligohydramnios, dysmorphic features and multiple congenital microphthalmia, congenital heart disease, absent thumbs and toes and cervical vertebral anomalies. Chromosome studies in blood and skin fibroblast cultures showed that one chromosome 3 was replaced by a ring chromosome of various sizes. This ring was confirmed to be derived from chromosome 13 using the centromeric 21/13 probe.

  3. Chromosomal abnormalities in spontaneous abortion after assisted reproductive treatment

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    Kim You

    2010-11-01

    Full Text Available Abstract Background We evaluated cytogenetic results occurring with first trimester pregnancy loss, and assessed the type and frequency of chromosomal abnormalities after assisted reproductive treatment (ART and compared them with a control group. We also compared the rate of chromosomal abnormalities according to infertility causes in ICSI group. Methods A retrospective cohort analysis was made of all patients who were referred to the Genetics Laboratory of Fertility Center of CHA Gangnam Medical Center from 2005 to 2009 because of clinical abortion with a subsequent dilation and evacuation (D&E performed, and patients were grouped by type of conception as follows: conventional IVF (in vitro fertilization (n = 114, ICSI (intracytoplasmic sperm injection (n = 140, and control (natural conception or intrauterine insemination [IUI] (n = 128. Statistical analysis was performed using SPSS software. Results A total 406 specimens were referred to laboratory, ten abortuses were excluded, and in 14 cases, we did not get any spontaneous metaphase, chromosomal constitutions of 382 specimens were successfully obtained with conventional cytogenetic methods. Overall, 52.62% of the miscarriages were found to be cytogenetically abnormal among all patients, the frequency was 48.4% in the control group, 54.3% of miscarriages after ICSI and 55.3% after conventional IVF (p = 0.503. The most prevalent abnormalities were autosomal trisomy, however, nine (11.69% sex chromosome aneuploidy were noted in the ICSI group vs. four (6.45% and two (3.23% cases in the conventional IVF group and control group. We compared chromosomal abnormalities of miscarriages after ICSI according to infertility factor. 55.71% underwent ICSI due to male factors, 44.29% due to non-male factors. ICSI group having male factors showed significantly higher risk of chromosomal abnormalities than ICSI group having non-male factors (65.8% vs. 34.2%, p = 0.009, odds ratio = 1.529, 95% CI = 1

  4. Identification of embryonic chromosomal abnormality using FISH-based preimplantaion genetic diagnosis

    Institute of Scientific and Technical Information of China (English)

    叶英辉; 徐晨明; 金帆; 钱羽力

    2004-01-01

    Objective: Embryonic chromosomal abnormality is one of the main reasons for in vitro fertilization (IVF) failure. This study aimed at evaluating the value of Fluorescence in-situ Hybridization (FISH)-based Preimplantation Genetic Diagnosis (PGD) in screening for embryonic chromosomal abnormality to increase the successful rate of IVF. Method: Ten couples, four with high risk of chromosomal abnormality and six infertile couples, underwent FISH-based PGD during IVF procedure. At day 3, one or two blastomeres were aspirated from each embryo. Biopsied blastomeres were examined using FISH analysis to screen out embryos with chromosomal abnormalities. At day 4, embryos without detectable chromosomal abnormality were transferred to the mother bodies as in regular IVF. Results: Among 54 embryos screened using FISH-based PGD, 30 embryos were detected to have chromosomal abnormalities. The 24 healthy embryos were implanted, resulting in four clinical pregnancies, two of which led to successful normal birth of two healthy babies; one to ongoing pregnancy during the writing of this article; and one to ectopic pregnancy. Conclusion: FISH-based PGD is an effective method for detecting embryonic chromosomal abnormality, which is one of the common causes of spontaneous miscarriages and chromosomally unbalanced offsprings.

  5. Identification of embryonic chromosomal abnormality using FISH-based preimplantaion genetic diagnosis

    Institute of Scientific and Technical Information of China (English)

    叶英辉; 徐晨明; 金帆; 钱羽力

    2004-01-01

    Objective: Embryonic chromosomal abnormality is one of the main reasons for in vitro fertilization (IVF)failure. This study aimed at evaluating the value of Fluorescence in-situ Hybridization (FISH)-based Preimplantation Genetic Diagnosis (PGD) in screening for embryonic chromosomal abnormality to increase the successful rate of IVF. Method:Ten couples, four with high risk of chromosomal abnormality and six infertile couples, underwent FISH-based PGD during IVF procedure. At day 3, one or two blastomeres were aspirated from each embryo. Biopsied blastomeres were examined using FISH analysis to screen out embryos with chromosomal abnormalities. At day 4, embryos without detectable chromosomal abnormality were transferred to the mother bodies as in regular IVF. Results: Among 54 embryos screened using FISH-based PGD, 30 embryos were detected to have chromosomal abnormalities. The 24 healthy embryos were implanted,resulting in four clinical pregnancies, two of which led to successful normal birth of two healthy babies; one to ongoing pregnancy during the writing of this article; and one to ectopic pregnancy. Conclusion: FISH-based PGD is an effective method for detecting embryonic chromosomal abnormality, which is one of the common causes of spontaneous miscarriages and chromosomally unbalanced offsprings.

  6. Mechanisms and consequences of paternally transmitted chromosomal abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Marchetti, F; Wyrobek, A J

    2005-04-05

    Paternally transmitted chromosomal damage has been associated with pregnancy loss, developmental and morphological defects, infant mortality, infertility, and genetic diseases in the offspring including cancer. There is epidemiological evidence linking paternal exposure to occupational or environmental agents with an increased risk of abnormal reproductive outcomes. There is also a large body of literature on germ cell mutagenesis in rodents showing that treatment of male germ cells with mutagens has dramatic consequences on reproduction producing effects such as those observed in human epidemiological studies. However, we know very little about the etiology, transmission and early embryonic consequences of paternally-derived chromosomal abnormalities. The available evidence suggests that: (1) there are distinct patterns of germ cell-stage differences in the sensitivity of induction of transmissible genetic damage with male postmeiotic cells being the most sensitive; (2) cytogenetic abnormalities at first metaphase after fertilization are critical intermediates between paternal exposure and abnormal reproductive outcomes; and, (3) there are maternally susceptibility factors that may have profound effects on the amount of sperm DNA damage that is converted into chromosomal aberrations in the zygote and directly affect the risk for abnormal reproductive outcomes.

  7. Chromosomal abnormalities in a psychiatric population

    Energy Technology Data Exchange (ETDEWEB)

    Lewis, K.E.; Lubetsky, M.J.; Wenger, S.L.; Steele, M.W. [Univ. of Pittsburgh Medical Center, PA (United States)

    1995-02-27

    Over a 3.5 year period of time, 345 patients hospitalized for psychiatric problems were evaluated cytogenetically. The patient population included 76% males and 94% children with a mean age of 12 years. The criteria for testing was an undiagnosed etiology for mental retardation and/or autism. Cytogenetic studies identified 11, or 3%, with abnormal karyotypes, including 4 fragile X positive individuals (2 males, 2 females), and 8 with chromosomal aneuploidy, rearrangements, or deletions. While individuals with chromosomal abnormalities do not demonstrate specific behavioral, psychiatric, or developmental problems relative to other psychiatric patients, our results demonstrate the need for an increased awareness to order chromosomal analysis and fragile X testing in those individuals who have combinations of behavioral/psychiatric, learning, communication, or cognitive disturbance. 5 refs., 1 fig., 2 tabs.

  8. Autism and chromosome abnormalities-A review.

    Science.gov (United States)

    Bergbaum, Anne; Ogilvie, Caroline Mackie

    2016-07-01

    The neuro-behavioral disorder of autism was first described in the 1940s and was predicted to have a biological basis. Since that time, with the growth of genetic investigations particularly in the area of pediatric development, an increasing number of children with autism and related disorders (autistic spectrum disorders, ASD) have been the subject of genetic studies both in the clinical setting and in the wider research environment. However, a full understanding of the biological basis of ASDs has yet to be achieved. Early observations of children with chromosomal abnormalities detected by G-banded chromosome analysis (karyotyping) and in situ hybridization revealed, in some cases, ASD associated with other features arising from such an abnormality. The introduction of higher resolution techniques for whole genome screening, such as array comparative genome hybridization (aCGH), allowed smaller imbalances to be detected, some of which are now considered to represent autism susceptibility loci. In this review, we describe some of the work underpinning the conclusion that ASDs have a genetic basis; a brief history of the developments in genetic analysis tools over the last 50 years; and the most common chromosome abnormalities found in association with ASDs. Introduction of next generation sequencing (NGS) into the clinical diagnostic setting is likely to provide further insights into this complex field but will not be covered in this review. Clin. Anat. 29:620-627, 2016. © 2016 Wiley Periodicals, Inc. PMID:27012322

  9. 孕中期血清标记物二联筛查用于染色体异常产前筛查%Prenatal screening for chromosome abnormalities with double serum markers in the second-trimester of pregnancy

    Institute of Scientific and Technical Information of China (English)

    陈春; 秦胜芳; 李运星; 邓艺; 伍志灵; 曾兰; 魏萍; 汪雪雁; 席娜

    2013-01-01

    Objective To examine the clinical value of double test with α-fetal protein (AFP) and free β-human chorionic gonadotropin (HCG) as serum markers for prenatal screening of fetal chromosome abnormalities in the second-trimester of pregnancy.Methods Serum concentrations of AFP and Free β-HCG were examined by DELFLA.The laboratory results were combined with information on pregnant woman' s age,gestational weeks,weight,and ultrasonographic findings to calculate the probability of having a fetus with chromosome abnormalities by risk evaluation software.Woman having a fetus with a high risk was referred to amniotic chromosomal karyotyping.Results Among the 43 067 pregnant women screened,6 214 had a high risk of Down Syndrome or Edwards'Syndrome,aged ≥35 years,or had an AFP value of MOM ≤0.4 or β-hCG value of MOM ≤0.3 or ≥2.5.Of the 1 735 pregnant women received prenatal diagnosis,23 fetuses were diagnosed with chromosome abnormalities.Conclusion The double test with AFP and free β-HCG as serum markers in the screening for chromosome abnormalities in the second-trimester of pregnancy has important clinical implications.%目的 结合四川省实际情况,探讨孕中期血清标记物二联筛查(AFP+游离β-hCG)在胎儿染色体异常产前筛查中的临床价值. 方法 应用时间分辨荧光法检测孕妇血清中的甲胎蛋白(AFP)和游离人绒毛膜促性腺激素β亚单位(游离β-hCG)的含量,结合孕妇的年龄、孕周、体重、B超结果等资料,经过风险软件计算后,来筛查胎儿染色体的异常,并以羊水染色体核型分析后的结果来最终诊断. 结果 筛查的43 067名孕妇中,21-三体高风险、18-三体高风险、预产年龄≥35岁及AFP MOM值≤0.4、β-hCG MOM值≤0.3或≥2.5的人次,共计6 214例,1 735名孕妇接受了羊水细胞染色体检查.共检出染色体异常23例. 结论 孕中期血清标记物二联筛查对减少四川地区染色体异常患儿的出生,有着重要的现实意义.

  10. Results of prenatal screening for fetal chromosome abnormality during the first trimester pregnancy in Guangzhou%广州市早孕期产前筛查胎儿染色体异常的结果分析

    Institute of Scientific and Technical Information of China (English)

    许遵鹏; 李蓓; 廖灿; 孙茜; 白雪; 李东至

    2014-01-01

    Objective To evaluate the efficiency of first trimester prenatal screening for fetal chromosome abnormality using maternal serum marker test and/or plus nuchal translucency (NT) in Guangzhou region.Methods The results of prenatal screening were retrospectively analyzed among 43 703 women with singleton pregnancies from January 2007 to September 2012.A total of 43 703 pregnancies between 9 and 13+6 weeks of pregnancy were collected and analyzed for maternal serum pregnancy-associated plasma protein A (PAPPA),free β-human chorionic gonadotropin (free β-hCG) with or without crownrump length (CRL).Nuchal translucency was measured by ultrasonographic scan between 11 and 13+6 weeks of pregnancy.Gestational age was estimated by ultrasonographic scan.The risk values of Down syndrome (DS) and trisomy 18 were calculated using the software Lifcycle.Comparing the difference between the combined screening (PAPPA,free β-hCG and NT) and serum marker screening (PAPPA and free β-hCG).Results Among the 43 703 pregnant women,screening showed that 1385 (3.17%) were Down syndrome positive and 55 (0.13%) were trisomy 18 positive.The final outcomes of pregnancy showed that 142 cases presented chromosomal abnormalities,of which 54 cases suffered from Down syndrome,13 had trisomy 18,and 75 had other chromosome abnormalities.The total detection rate of Down syndrome and trisomy 18 were 83.33% and 76.92%,respectively.The positive rate is lower,and the detection rate is higher in combined screening group than serum marker screening group.The median PAPPA MoM was lower and the median free β-hCG MoM and NT measured value was higher in Down syndrome pregnancies than control group.The median PAPPA and free β-hCG MoM were lower and the median NT measured value was higher in trisomy 18 pregnancies than control group.Conclusion The first trimester prenatal screening can effectively detect Down syndrome and trisomy 18 pregnancy.The combined screening method is superior to the serum

  11. [Lived experience of women with fetal chromosomal abnormality receiving termination at second trimester].

    Science.gov (United States)

    Hsu, Chin-Mei; Su, Tsann-Juu; Chen, Yueh-Chih; Hwang, Jiann-Lonng

    2007-12-01

    Fetal chromosomal examination helps screen fetal chromosomal abnormalities prenatally. Diagnosis of such anomalies allows pregnancy termination, but causes tremendous trauma during pregnancy. The purpose of this study was to explore the lived experience of women suffering from fetal chromosomal abnormalities who are urgently required to terminate their pregnancy. The qualitative field study was conducted at a medical center in Taipei. The researcher, a primary nurse, conducted interviews with five women face to face or over the phone to collect the data. The period of care lasted for two weeks, beginning with confirmed diagnosis of fetal chromosomal abnormalities, followed by the subjects' decision on pregnancy termination, and ending up with their discharge from the hospital. The study is presented in narrative form and the data analyzed using interpretive research strategies of phenomenology. Three categories of lived experience emerged from the data: (1) recurring nightmares, (2) the torment from making the decision of pregnancy termination, and (3) frustration or sadness afterwards. The results illustrated that the lived experience of the women suffering from fetal chromosomal abnormalities and receiving termination was a continuous process. We suggest that medical staff concern themselves with the issue and provide humanistic caring for patients during the various different phases.

  12. Molecular Characterisation of Structural Chromosomal Abnormalities Associated with Congenital Disorders

    OpenAIRE

    Mansouri, Mahmoud R.

    2006-01-01

    Chromosomal abnormalities are defined as changes in the chromosome structure and fall in one of two categories. The first category is numerical alterations while the second category consists of structural abnormalities. Structural chromosomal abnormalities do not always interrupt genes in order to cause disease. They can also affect gene expression by separating a gene and its promoter element from distant regulatory elements. We have used characterisation of structural chromosomal abnormalit...

  13. Inherited unbalanced structural chromosome abnormalities at prenatal chromosome analysis are rarely ascertained through recurrent miscarriage

    NARCIS (Netherlands)

    Franssen, M. T. M.; Korevaar, J. C.; Tjoa, W. M.; Leschot, N. J.; Bossuyt, P. M. M.; Knegt, A. C.; Suykerbuyk, R. F.; Hochstenbach, R.; van der Veen, F.; Goddijn, M.

    2008-01-01

    Objective To determine the mode of ascertainment of inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis. Methods From the databases of three centres for clinical genetics in the Netherlands, all cases of inherited unbalanced structural chromosome abnorma

  14. Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study

    Directory of Open Access Journals (Sweden)

    Frenny J Sheth

    2013-01-01

    Full Text Available Background: Recurrent pregnancy loss is a common occurrence and a matter of concern for couples planning the pregnancy. Chromosomal abnormalities, mainly balanced rearrangements, are common in couples with repeated miscarriages. Purpose: The purpose of this study is to evaluate the contribution of chromosomal anomalies causing repeated spontaneous miscarriages and provide detailed characterization of a few structurally altered chromosomes. Materials and Methods: A retrospective cytogenetic study was carried out on 4859 individuals having a history of recurrent miscarriages. The cases were analyzed using G-banding and fluorescence in situ hybridization wherever necessary. Results: Chromosomal rearrangements were found in 170 individuals (3.5%. Translocations were seen in 72 (42.35% cases. Of these, reciprocal translocations constituted 42 (24.70% cases while Robertsonian translocations were detected in 30 (17.64% cases. 7 (4.11% cases were mosaic, 8 (4.70% had small supernumerary marker chromosomes and 1 (0.6% had an interstitial microdeletion. Nearly, 78 (1.61% cases with heteromorphic variants were seen of which inversion of Y chromosome (57.70% and chromosome 9 pericentromeric variants (32.05% were predominantly involved. Conclusions: Chromosomal analysis is an important etiological investigation in couples with repeated miscarriages. Characterization of variants/marker chromosome enable calculation of a more precise recurrent risk in a subsequent pregnancy thereby facilitating genetic counseling and deciding further reproductive options.

  15. Visualizing how cancer chromosome abnormalities form in living cells

    Science.gov (United States)

    For the first time, scientists have directly observed events that lead to the formation of a chromosome abnormality that is often found in cancer cells. The abnormality, called a translocation, occurs when part of a chromosome breaks off and becomes attac

  16. A Case of ADHD and a Major Y Chromosome Abnormality

    Science.gov (United States)

    Mulligan, Aisling; Gill, Michael; Fitzgerald, Michael

    2008-01-01

    Background: ADHD is a common, heritable disorder of childhood. Sex chromosome abnormalities are relatively rare conditions that are sometimes associated with behavioral disorders. Method: The authors present a male child with ADHD and a major de-novo Y chromosome abnormality consisting of deletion of the long arm and duplication of the short arm.…

  17. Cytogenetic analysis of chromosomal abnormalities in Sri Lankan children

    Institute of Scientific and Technical Information of China (English)

    Colombo; Sri Lanka

    2015-01-01

    Background: Cytogenetic analysis is a valuable investigation in the diagnostic work up of children with suspected chromosomal disorders. The objective of this study was to describe the prevalence of various types of chromosomal abnormalities in Sri Lankan children undergoing cytogenetic analysis. Methods: Cytogenetic reports of 1554 consecutive children with suspected chromosomal disorders who underwent karyotyping in two genetic centers in Sri Lanka from January 2006 to December 2011 were reviewed retrospectively. Results: A total of 1548 children were successfully karyotyped. Abnormal karyotypes were found in 783 (50.6%) children. Numerical and structural abnormalities accounted for 90.8% and 9.2%, respectively. Down syndrome was the commonest aneuploidy identifi ed. Other various autosomal and sex chromosomal aneuploidies as well as micro-deletion syndromes were also detected. Conclusions: The prevalence of chromosomal abnormalities in Sri Lankan children undergoing cytogenetic analysis for suspected chromosomal disorders was relatively higher than that in Caucasian and other Asian populations.

  18. Chromosome abnormalities in Indonesian patients with short stature

    Directory of Open Access Journals (Sweden)

    Paramayuda Chrysantine

    2012-08-01

    Full Text Available Abstract Background Short stature is associated with several disorders including wide variations of chromosomal disorders and single gene disorders. The objective of this report is to present the cytogenetic findings in Indonesian patients with short stature. Methods G-banding and interphase/metaphase FISH were performed on short stature patients with and without other clinical features who were referred by clinicians all over Indonesia to our laboratory during the year 2003–2009. Results The results of chromosomal analysis of ninety seven patients (mean age: 10.7 years old were collected. The group of patients with other clinical features showed sex chromosome abnormalities in 45% (18/40 and autosomal abnormalities in 10% (4/40, whereas those with short stature only, 42.1% (24/57 had sex chromosome abnormalities and 1.75% (1/57 had autosomal abnormalities. The autosomal chromosomal abnormalities involved mostly subtelomeric regions. Results discrepancies between karyotype and FISH were found in 10 patients, including detection of low-level monosomy X mosaicism in 6 patients with normal karyotype, and detection of mosaic aneuploidy chromosome 18 in 1 patient with 45,XX,rob(13;14(q10;q10. Statistical analysis showed no significant association between the groups and the type of chromosomal abnormalities. Conclusion Chromosome abnormalities account for about 50% of the short stature patients. Wide variations of both sex and autosomal chromosomes abnormalities were detected in the study. Since three out of five patients had autosomal structural abnormalities involving the subtelomeric regions, thus in the future, subtelomeric FISH or even a more sensitive method such as genomic/SNP microarray is needed to confirm deletions of subtelomeric regions of chromosome 9, 11 and 18. Low-level mosaicism in normal karyotype patients indicates interphase FISH need to be routinely carried out in short stature patients as an adjunct to karyotyping.

  19. Abnormal sex chromosome constitution and longitudinal growth

    DEFF Research Database (Denmark)

    Aksglaede, Lise; Skakkebaek, Niels E; Juul, Anders

    2008-01-01

    Growth is a highly complex process regulated by the interaction between sex steroids and the GH IGF-axis. However, other factors such as sex chromosome-related genes play independent roles.......Growth is a highly complex process regulated by the interaction between sex steroids and the GH IGF-axis. However, other factors such as sex chromosome-related genes play independent roles....

  20. Detection of chromosomal abnormality and Y chromosome microdeletion in patients with azoospermia and oligozoospermia

    Institute of Scientific and Technical Information of China (English)

    Shi Yun-fang; Shao Min-jie; Zhang Ying; Zhang Xiu-ling; Li Yan

    2008-01-01

    Objective:To investigate the chromosomal abnormality and Y chromosome microdeletion in patients with azoospermia and oligozoospermia.Methods:Cytogenetic karyotype analysis and multiplex PCR were used to detect chromosomal abnormality and Y chromosome microdeletion in 99 azoospermic and 57 oligospermic patients(total 156).45 fertile men were includ-ed as controls.Results:31 patients were found with chromosomal abnormalities in 156 cases(31/156,19.9 %),20 cases showed 47,XXY,2 cases showed 46,XY/47,XXY,7 cases had Y chromosome structural abnormalities and 2 had autosomal chromosome abnormalities.There were significant differences between the frequency of AZF microde-letion in 125 cases with normal karyotype and 45 controls(P0.05).AZFa,AZFb,AZFa+b,AZFb+c,AZFa+b+d and AZFb+c+d mierodeletions were found in azoospermic patients.AZFb,AZFc,AZFd,AZFb+c+d and AZFc+d microdeletions were found in oligo-spermic patients.Conxlusion:The frequency of chromosomal abnormality was 19.9% and the frequency of Y chromosome mi-crodeletion was 15.2% in patient with azoospermia and oligozoospermia.We should pay close attention to this prob-lem.

  1. Chromosome abnormality incidence in fetuses with cerebral ventriculomegaly.

    Science.gov (United States)

    Gezer, C; Ekin, A; Ozeren, M; Taner, C E; Ozer, O; Koc, A; Bilgin, M; Gezer, N S

    2014-07-01

    Ventriculomegaly (VM) is a marker of aneuploidy and warrants a detailed examination of fetal anatomy. Chromosomal abnormalities worsen the fetal and neonatal prognosis significantly and karyotyping of fetuses is critically important when accompanying anomalies are detected. Here, we report the genetic results of 140 fetuses with isolated and non-isolated VM detected during a second trimester ultrasound examination followed by invasive in utero diagnostic procedures for karyotyping. VM was diagnosed in seven (5%) fetuses with abnormal karyotype and the chromosomal abnormality incidence was higher in severe VM (6.8%) than mild (4.2%). Higher chromosomal abnormality rates were detected when VM was isolated (8.6%), rather than associated with any anomaly (3.8%). These results suggest that karyotype analysis should be offered to all patients with any degree of VM, regardless of its association with structural anomalies.

  2. Chromosomal abnormalities and environmental exposures in acute nonlymphocytic leukemia

    International Nuclear Information System (INIS)

    Chromosomal abnormalities are present in bone marrow of approximately 50% of newly diagnostic acute nonlymphatic leukemia (ANLL) patients, but their etiologic significance, if any, is unclear. The frequency of environmental exposures, gathered by questionnaire from patients or relatives, was compared in 127 newly diagnosed ANLL patients with marrow abnormalities (AA) and 109 ANLL patients with cytogenetically normal marrow. These represented 73% of de novo patients treated at M. D. Anderson Hospital between 1976 and 1983. AA patients were more likely than NN patients to: report cytotoxic treatment for prior medical conditions, smoke cigarettes, drink alcoholic beverages, and work at occupations with possible exposure to mutagens. No statistically significant associations between aneuploidy and use of other tobacco, avocational exposure to chemicals or exposure to animals were present. Associations between specific abnormalities and prior cytotoxic therapy (deletion of chromosome 7), smoking (extra chromosome 8, inversion chromosome 16), and occupation at the time of diagnosis (translocation between chromosomes 8 and 21) were noted. No association between occupational exposure to benzene or ionizing radiation and the 6 most common chromosomal abnormalities in ANLL patients were noted, although these agents are known to be leukemogenic. Problems with interpreting the above associations, including the high nonresponse rate, a high proportion of surrogate respondents, and the large number of significance tests that were performed, are discussed. These results are consistent with those from previously reported series, and suggest that tumor-specific markers may be present for some exposures in this disease

  3. Survey of human chromosomal abnormalities in Iceland

    Energy Technology Data Exchange (ETDEWEB)

    Jensson, O.; Hauksdottir, H.; Bjarnason, O.; Tulinius, H.

    1976-06-01

    The work of the Chromosome Laboratory of the Genetical Committee of the University of Iceland is reviewed. Initially, the main aim was to carry out cytogenetic typing of all individuals in Iceland with Down's syndrome available for study in institutions and homes, including individuals born in maternity clinics and homes during the eight years of investigation. The results of the chromosome investigation are summarized in Table 1. Lymphocyte cultures were made from a total of 932 individuals from September 1967 to 1975 and 152 individuals with Down's syndrome were cytogenetically typed. Unusual karyotype leading to Down's syndrome was found in 10 cases. Of these six were found to be mosaic, two had D/G and two G/G translocation. By cytogenetic family survey 13 D/G translocation carriers were detected in the family. A separate paper on the cytogenetic survey of Down's syndrome in Iceland is under way.

  4. Clinical value and effectiveness of sonography screening for fetal chromosomal abnormalities in the middle and late pregnancy%中晚孕期超声筛查胎儿染色体异常的有效性及应用价值研究

    Institute of Scientific and Technical Information of China (English)

    马喆; 陶国伟; 展新风; 刘村; 程琳; 宋瑶; 刘芳; 刘韶平

    2009-01-01

    目的 研究中晚孕期超声筛查胎儿染色体异常的有效性及应用价值.方法 经超声筛查为结构异常的中晚孕期胎儿和经孕母血清筛查为高风险的中期妊娠胎儿,行羊膜腔或脐静脉穿刺取羊水或脐血,作染色体核型诊断.结果 ①超声筛查接受检查的结构异常胎儿31例,检出异常染色体8例,检出率为25.8%.31例中颈部淋巴囊肿伴水肿3例,全部染色体异常;单纯颈项皮肤增厚3例,其中2例染色体异常;多发畸形、Dandy-Walker畸形及前脑无裂畸形各1例,染色体均异常.②血清筛查接受检查的唐氏综合征和18-三体高风险孕妇516例,检出异常染色体14例,检出率为2.71%.14例中唐氏综合征7例,其他染色体异常7例.③单纯超声筛查和血清筛查共筛查为高危又接受诊断者544(516+28)例,检出异常染色体21(14+7)例,两种方法互补染色体异常检出率为3.86%.互补筛查检出率是血清筛查的1.42倍,比血清筛查提高42.43%.结论 ①中晚孕期超声显示的某些胎儿结构异常是提示胎儿染色体异常的有效指征.②超声和血清两种筛查方法互补,可以提高染色体异常的检出率,对于血清失筛查或筛查低危漏诊孕妇是有效的弥补措施.%Objective To evaluate the clinical value and effectiveness of ultrasound screening for fetal chromosomal abnormalitie in the middle and late pregnancy. Methods Fetuses who were detected with abnormal ultrasound findings during the middle and late pregnancy, and high risk of maternal serum screening underwent amnioeentesis or eordocentesis for fetal chromosome karyotypes. Results (1) A total of 31 cases with fetal malformation diagnosed by ultrasound were analysed for fetal chromosome karyotypes, and 8 (25.8%) cases were proved with fetal abnormal chromosome karyotypes. There were 3 cases of cervical springwater cyst accompany with edema,and all were fetal abnormal chromosome karyotypes. There were 3 cases of cervical

  5. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

    NARCIS (Netherlands)

    Wellesley, Diana; Dolk, Helen; Boyd, Patricia A.; Greenlees, Ruth; Haeusler, Martin; Nelen, Vera; Garne, Ester; Khoshnood, Babak; Doray, Berenice; Rissmann, Anke; Mullaney, Carmel; Calzolari, Elisa; Bakker, Marian; Salvador, Joaquin; Addor, Marie-Claude; Draper, Elizabeth; Rankin, Judith; Tucker, David

    2012-01-01

    The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the ca

  6. Immunologic Abnormalities, Treatments, and Recurrent Pregnancy Loss

    DEFF Research Database (Denmark)

    Wang, Nathalie F; Kolte, Astrid M; Larsen, Elisabeth C;

    2016-01-01

    Recurrent pregnancy loss, depending on the definition, affects 1% to 3% of women aiming to have a child. Little is known about the direct causes of recurrent pregnancy loss, and the condition is considered to have a multifactorial and complex pathogenesis. The aim of this review was to summarize ...... the evaluation and the management of the condition with specific emphasis on immunologic biomarkers identified as risk factors as well as current immunologic treatment options. The review also highlights and discusses areas in need of further research....

  7. Prenatal detection of rare chromosomal autosomal abnormalities in Europe

    NARCIS (Netherlands)

    Baena, N; De Vigan, C; Cariati, E; Clementi, M; Stoll, C; Caballin, MR; Guitart, M

    2003-01-01

    The aim of the present study was to evaluate the prenatal detection of rare chromosomal autosomal abnormalities by ultrasound (US) examination. Data were obtained from 19 congenital malformation registries from 11 European countries, between 01/07/96 and 31/12/98. A total of 664,340 births were cove

  8. The prevalence of chromosomal abnormalities in subgroups of infertile men

    NARCIS (Netherlands)

    Dul, E. C.; Groen, H.; van Ravenswaaij-Arts, C. M. A.; Dijkhuizen, T.; van Echten-Arends, J.; Land, J. A.

    2012-01-01

    BACKGROUND: The prevalence of chromosomal abnormalities is assumed to be higher in infertile men and inversely correlated with sperm concentration. Although guidelines advise karyotyping infertile men, karyotyping is costly, therefore it would be of benefit to identify men with the highest risk of c

  9. Who should be screened for chromosomal abnormalities before ICSI treatment?

    NARCIS (Netherlands)

    Dul, E. C.; van Ravenswaaij-Arts, C. M. A.; Groen, H.; van Echten-Arends, J.; Land, J. A.

    2010-01-01

    Guidelines on karyotyping infertile men before ICSI treatment are not consistent. Most guidelines recommend chromosomal screening in azoospermic and severe oligozoospermic men, because they are assumed to have the highest risk of abnormalities. We performed a retrospective cohort study in azoospermi

  10. Abnormalities of chromosome No. 1: significance in malignant transformation

    Energy Technology Data Exchange (ETDEWEB)

    Rowley, J.D.

    1978-01-01

    Studies of human hematologic malignancies have provided sufficient data not only for the identification of nonrandom abnormalities of whole chromosomes, but also for determination of the specific chromosome regions involved. In clonal aberrations leading to an excess of chromosome No. 1, or a partial excess of No. 1, trisomy for bands 1q25 to 1q32 was noted in the myeloid cells obtained from every one of 35 patients who had various disorders, such as acute leukemia, polycythemia vera, or myelofibrosis. Similar chromosome changes were a consistent finding in various solid tumors as well. This rearrangement was not the result of a particularly fragile site in that region of the chromosome, since the break points in reciprocal translocations that involve No. 1 occurred almost exclusively in the short arm. The nonrandom chromosome changes found in neoplastic cells can now be correlated with the gene loci on these chromosomes or chromosome segments as an attempt is made to identify specific genes that might be related to malignancy.

  11. Screening for fetal chromosome abnormalities during the second trimester

    International Nuclear Information System (INIS)

    Objective: To develop a pre -natal screening program for fetal chromosome abnormalities based on risk values calculated from maternal serum markers levels during the second trimester. Methods: Serum levels of AFP, β-HCG, uE3 were determined with CLIA in 1048 pregnant women during 14-21w gestation period and the results were analyzed with a specific software (screening program for Down' s syndrome developed by Beckman) for the risk rate. In those women defined as being of high risk rate, cells from amniotic fluid or umbilical cord blood were studied for karyotype analysis. Results: Of these 1048 women, 77 were designated as being of high risk rate for several chromosome abnormalities i.e. Down's syndrome, open spina bifida and trisomy -18 syndrome (overall positive rate 7.3%). Further fetal chromosome study in 31 of them revealed three proven cases of abnormality. Another cord blood study was performed in a calculated low risk rate case but with abnormal sonographic finding at 31 w gestation and proved to be abnormal (software study false negative). The remaining 46 high risk rate cases either refused future study (n=35) or were lost for follow-up (n=11). Fortunately, all the 35 women refused further study gave birth to normal babies without any chromosome abnormalities discovered on peripheral blood study. Besides, in a trial study, five high risk rate women were again evaluated a few weeks later but with tremendous difference between the results. Conclusion: The present program proves to be clinically useful but needs further study and revision. Many factors may influence the result of the analysis and the duration of gestation period in weeks should be as accurate as possible. At present, in order to avoid getting false negatives, we don't advise a second check in 'high risk' cases. (authors)

  12. Chromosome Structural Alteration an Unusual Abnormality Characterizing Human Neoplasia

    Directory of Open Access Journals (Sweden)

    Abolfazl Movafagh

    2016-04-01

    Full Text Available Background and Aim: Ring chromosomes are rare cytogenetic abnormalities that occur in less than 10% of hematopoietic malignancies. They are rare in blood disorder. The present review has focused on the ring chromosome associated with oncology malignancies. Materials and Methods: By reviewing the web-based search for all English scientific peer review articles published, was initiated using Medline/PubMed, Mitelman database (http://cgap.nci.nih.gov/Chromosomes/Mitelman, and other pertinent references on websites about ring chromosomes in Oncology. The software program as End Note was used to handle the proper references for instruction to author. Karyotype descriptions were cited according to ISCN.Conclusion: Ring chromosomes are rare chromosomal aberrations, almost many times are of de novo origin, presenting a different phenotype regarding the loss of genetic material. The karyotype represents the main analysis for detection of ring chromosomes, but other molecular technics are necessary for complete characterization. The information of this review article adds to the spectrum of both morphology and genetic rearrangements in the field of oncology malignancies.

  13. The management of women with abnormal cervical cytology in pregnancy.

    LENUS (Irish Health Repository)

    Flannelly, Grainne

    2010-02-01

    The management of women with abnormal cytology in pregnancy represents both a diagnostic and a therapeutic challenge for colposcopists. The emphasis should be on diagnosis and confirmation of cervical precancer (Cervical intraepithelial neoplasia (CIN) or Adenocarcinoma in situ (AIS), thus excluding invasive cancer). Following an initial assessment, careful follow-up is essential. This must include colposcopy and take into account the physiological changes of the cervix during pregnancy and the puerperium. The management of women with invasive cancer diagnosed during pregnancy depends on the gestation at diagnosis and requires careful assessment and multidisciplinary planning.

  14. Abnormal maternal serum alpha fetoprotein and pregnancy outcome.

    Science.gov (United States)

    Zarzour, S J; Gabert, H A; Diket, A L; St Amant, M; Miller, J M

    1998-01-01

    The objective was to assess the occurrence of miscarriages, low birth weight, and karyotype abnormalities found with low and elevated maternal serum alpha-fetoprotein (MSAFP) among women who had genetic amniocentesis performed. A retrospective study of 2,159 women who had MSAFP analysis prior to amniocentesis was conducted. Pregnancy outcomes were obtained from record review and physicians follow-up. Limits of MSAFP used in analysis were MOM) (lower levels) and >2.0 MOM (upper levels). Autosomal trisomy was found in 1.6% with low, 0.9% normal, and 0.6% with elevated MSAFP values. Sex chromosome abnormalities were present only in patients with normal MSAFP, [45X (n = 6), 47XXY (n = 2), 69XXX]. Of five open neural tube defects, four had elevated MSAFP and one had a normal value. Omphalocele was identified in four patients, two with normal and two with elevated MSAFP. Gastroschisis was found in one low and one elevated MSAFP. Amniotic fluid alpha-fetoprotein (AFAFP) values did not correlate with MSAFP values. Patients with low MSAFP levels had a greater prevalence of abnormal karyotype (19 of 249, prevalence = 0.076) than patients with an elevated MSAFP level (2 or 166, prevalence = 0.012 OR (odds ratio) = 0.20 (P value = 0.024) when unadjusted for maternal age, and OR = 0.09 (P value = 0.001) when adjusted for maternal age. Spontaneous abortion occurred more often in patients with elevated (4 of 166, or 4%) than normal or low (20 of 1948, or 1%) values of MSAFP (odds ratio 4.32, P = 0.020 when adjusted for maternal age). Birth weight below 2,500 g was present less frequently with low or normal MSAFP (136 of 1,760, or 7.7%) than in elevated MSAFP (21 of 144 or 14.6%) (odds ratio 2.04, P = 0.005, unadjusted; and odds ratio = 2.32, P = 0.003, adjusted for maternal age). Female fetuses were present more often with low MSAFP (136 of 249, or 55%) than elevated levels 43% (71 of 164, or 43%; P = 0.024). We conclude that patients undergoing genetic amniocentesis with MSAFP

  15. Prenatal diagnosis of chromosome 15 abnormalities in the Prader-Willi/Angelman syndrome region by traditional and molecular cytogenetics

    Energy Technology Data Exchange (ETDEWEB)

    Toth-Fejel, S.; Magenis, R.E.; Leff, S. [Oregon Health Sciences Univ., Portland, OR (United States)] [and others

    1995-02-13

    With improvements in culturing and banding techniques, amniotic fluid studies now achieve a level of resolution at which the Prader-Willi syndrome (PWS) and Angelman syndrome (AS) region may be questioned. Chromosome 15 heteromorphisms, detected with Q- and R-banding and used in conjunction with PWS/AS region-specific probes, can confirm a chromosome deletion and establish origin to predict the clinical outcome. We report four de novo cases of an abnormal-appearing chromosome 15 in amniotic fluid samples referred for advanced maternal age or a history of a previous chromosomally abnormal child. The chromosomes were characterized using G-, Q-, and R-banding, as well as isotopic and fluorescent in situ hybridization of DNA probes specific for the proximal chromosome 15 long arm. In two cases, one chromosome 15 homolog showed a consistent deletion of the ONCOR PWS/AS region A and B. In the other two cases, one of which involved an inversion with one breakpoint in the PWS/AS region, all of the proximal chromosome 15 long arm DNA probes used in the in situ hybridization were present on both homologs. Clinical follow-up was not available on these samples, as in all cases the parents chose to terminate the pregnancies. These cases demonstrate the ability to prenatally diagnose chromosome 15 abnormalities associated with PWS/AS. In addition, they highlight the need for a better understanding of this region for accurate prenatal diagnosis. 41 refs., 5 figs.

  16. Chromosomal abnormalities in patients with autism spectrum disorders from Taiwan.

    Science.gov (United States)

    Liao, Hsiao-Mei; Gau, Susan Shur-Fen; Tsai, Wen-Che; Fang, Jye-Siung; Su, Ying-Cheng; Chou, Miao-Chun; Liu, Shih-Kai; Chou, Wen-Jiun; Wu, Yu-Yu; Chen, Chia-Hsiang

    2013-10-01

    Autism spectrum disorders (ASD) are childhood-onset neurodevelopmental disorders characterized by verbal communication impairments, social reciprocity deficits, and the presence of restricted interests and stereotyped behaviors. Genetic factors contribute to the incidence of ASD evidently. However, the genetic spectrum of ASD is highly heterogeneous. Chromosomal abnormalities contribute significantly to the genetic deficits of syndromic and non-syndromic ASD. In this study, we conducted karyotyping analysis in a sample of 500 patients (447 males, 53 females) with ASD from Taiwan, the largest cohort in Asia, to the best of our knowledge. We found three patients having sex chromosome aneuploidy, including two cases of 47, XXY and one case of 47, XYY. In addition, we detected a novel reciprocal chromosomal translocation between long arms of chromosomes 4 and 14, designated t(4;14)(q31.3;q24.1), in a patient with Asperger's disorder. This translocation was inherited from his unaffected father, suggesting it might not be pathogenic or it needs further hits to become pathogenic. In line with other studies, our study revealed that subjects with sex chromosomal aneuploidy are liable to neurodevelopmental disorders, including ASD, and conventional karyotyping analysis is still a useful tool in detecting chromosomal translocation in patients with ASD, given that array-based comparative genomic hybridization technology can provide better resolution in detecting copy number variations of genomic DNA.

  17. Chromosomal abnormalities in patients with autism spectrum disorders from Taiwan.

    Science.gov (United States)

    Liao, Hsiao-Mei; Gau, Susan Shur-Fen; Tsai, Wen-Che; Fang, Jye-Siung; Su, Ying-Cheng; Chou, Miao-Chun; Liu, Shih-Kai; Chou, Wen-Jiun; Wu, Yu-Yu; Chen, Chia-Hsiang

    2013-10-01

    Autism spectrum disorders (ASD) are childhood-onset neurodevelopmental disorders characterized by verbal communication impairments, social reciprocity deficits, and the presence of restricted interests and stereotyped behaviors. Genetic factors contribute to the incidence of ASD evidently. However, the genetic spectrum of ASD is highly heterogeneous. Chromosomal abnormalities contribute significantly to the genetic deficits of syndromic and non-syndromic ASD. In this study, we conducted karyotyping analysis in a sample of 500 patients (447 males, 53 females) with ASD from Taiwan, the largest cohort in Asia, to the best of our knowledge. We found three patients having sex chromosome aneuploidy, including two cases of 47, XXY and one case of 47, XYY. In addition, we detected a novel reciprocal chromosomal translocation between long arms of chromosomes 4 and 14, designated t(4;14)(q31.3;q24.1), in a patient with Asperger's disorder. This translocation was inherited from his unaffected father, suggesting it might not be pathogenic or it needs further hits to become pathogenic. In line with other studies, our study revealed that subjects with sex chromosomal aneuploidy are liable to neurodevelopmental disorders, including ASD, and conventional karyotyping analysis is still a useful tool in detecting chromosomal translocation in patients with ASD, given that array-based comparative genomic hybridization technology can provide better resolution in detecting copy number variations of genomic DNA. PMID:24132905

  18. Augmentin treatment during pregnancy and the prevalence of congenital abnormalities

    DEFF Research Database (Denmark)

    Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik T;

    2001-01-01

    Objective: To study the human teratogenic potential of augmentin (amoxicillin+clavulanic acid) treatment during pregnancy. Materials and methods: Pair analysis of cases with different congenital abnormalities and their matched controls in the population-based dataset of the Hungarian Case-Control...

  19. Combined Use of Cytogenetic and Molecular Methods in Prenatal Diagnostics of Chromosomal Abnormalities

    Science.gov (United States)

    Stomornjak-Vukadin, Meliha; Kurtovic-Basic, Ilvana; Mehinovic, Lejla; Konjhodzic, Rijad

    2015-01-01

    Aim: The aim of prenatal diagnostics is to provide information of the genetic abnormalities of the fetus early enough for the termination of pregnancy to be possible. Chromosomal abnormalities can be detected in an unborn child through the use of cytogenetic, molecular- cytogenetic and molecular methods. In between them, central spot is still occupied by cytogenetic methods. In cases where use of such methods is not informative enough, one or more molecular cytogenetic methods can be used for further clarification. Combined use of the mentioned methods improves the quality of the final findings in the diagnostics of chromosomal abnormalities, with classical cytogenetic methods still occupying the central spot. Material and methods: Conducted research represent retrospective-prospective study of a four year period, from 2008 through 2011. In the period stated, 1319 karyotyping from amniotic fluid were conducted, along with 146 FISH analysis. Results: Karyotyping had detected 20 numerical and 18 structural aberrations in that period. Most common observed numerical aberration were Down syndrome (75%), Klinefelter syndrome (10%), Edwards syndrome, double Y syndrome and triploidy (5% each). Within observed structural aberrations more common were balanced chromosomal aberrations then non balanced ones. Most common balanced structural aberrations were as follows: reciprocal translocations (60%), Robertson translocations (13.3%), chromosomal inversions, duplications and balanced de novo chromosomal rearrangements (6.6% each). Conclusion: With non- balanced aberrations observed in the samples of amniotic fluid, non- balanced translocations, deletions and derived chromosomes were equally represented. Number of detected aneuploidies with FISH, prior to obtaining results with karyotyping, were 6. PMID:26005269

  20. Ultrasound screening program for chromosomal abnormalities: The first 2000 women

    Directory of Open Access Journals (Sweden)

    Novakov-Mikić Aleksandra

    2007-01-01

    Full Text Available Introduction Screening for chromosomal abnormalities identifies the group of women at higher risk for having a fetus with chromosomal abnormalities and the need for fetal karyotyping. In order to provide high quality screening, strict criteria for certification of operators are introduced, issued by the Fetal Medicine Foundation (FMF, which enables annual external control of results. The aim of this study was to review the results of five-year prenatal screening for chromosomal abnormalities in Novi Sad, Serbia. Material and methods Ultrasound screening at 11-15 weeks gestation was performed, assessing fetal morphology, crowner-rump length and nuchal translucency (NT according to the FMF guidelines. Risk for chromosomal abnormalities included the initial risk, based on maternal age, gestational age and anamnestic data, and corrected risk, which took into account the initial risk and the value of the nuchal translucency. The corrected risk was issued by the computer program issued by the FMF. Results During the period 1999 - 2004, 4580 pregnant women were scanned. The risk for chromosomal abnormality was calculated using the FMF program in 2245 cases and the outcome was known in 1406 cases. The majority of women were between 25 and 29 years of age (37%, and 12% were older than 35 years. NT was below the median in 43% of cases and above in 57%, 3.7% of cases were above the 95th centile. 89% of women were younger than 35, and the risk was reduced in 97% of cases. There were three false negative cases. In 3% of women from this group the risk was increased, out of which there were five cases of trisomy 21 and two terminations were done due to major anomalies. In the group of women over 35 years, the risk was reduced in 95% of cases and in all of them but two the karyotype was normal. In one of the two cases there was a large omphalocele and the karyotype was trisomy 18, and in the other fetus appeared normal, but after amniocentesis due to maternal

  1. 中期孕妇胎儿心脏畸形超声心动图表现与染色体异常的相关性%Correlation between fetal cardiac malformations echocardiography and chromosomal abnormalities in mid-pregnancy

    Institute of Scientific and Technical Information of China (English)

    陈兵勇; 尹晓云; 陈婕; 黄继才; 李景珊

    2015-01-01

    Objective To explore the correlation between fetal cardiac malformations echocardiography and chromosomal abnormalities in mid-pregnancy. Methods A total of 5 000 cases of women in mid-pregnancy in our hospital from March 2012 to December 2014 who received prenatal ultrasound and karyotype examination were in-cluded in the study. And correlation between fetal cardiac malformations echocardiography and chromosomal abnor-malities was analyzed. Results In 60 fetal cardiac malformation cases, there were 16 chromosomal abnormalities cas-es which accounting for 26.67%(16/60), including 1 case of X monomer, 3 cases of trisomy 13, 7 cases of trisomy 18, and 5 cases of trisomy 21. While in 16 fetal congenital heart disease (CHD) cases, all X monomer and trisomy 13 cas-es, 60%of trisomy 21 cases and 85.71%of trisomy 18 cases were found with varying degrees of extracardiac malfor-mations. Conclusion Fetal cardiac malformations are closely related with chromosomal abnormalities. Therefore malformations should be carefully considered if fetal cardiac malformations were found in ultrasound screening, and a chromosome examination would be clinically recommended.%目的:检测中期孕妇胎儿心脏畸形超声心动图与染色体异常变异,探讨其可能存在的关系。方法对本院2012年3月至2014年12月收治的5000例中期孕妇进行产前超声与染色体核型检查,综合比较分析胎儿心脏畸形超声心动图表现和染色体异常的关系。结果60例心脏畸形胎儿确诊病例中伴染色体异常者16例,占26.67%(16/60),其中X单体1例,13-三体3例,18-三体7例,21-三体5例。16例先天性心脏病(CHD)胎儿中,全部的X单体和13-三体、60%的21-三体以及85.71%的18-三体患儿均伴有不同程度的心外器官的畸形。结论胎儿心脏结构畸形与染色体异常关系密切,产前超声筛查发现心脏畸形时应仔细检查胎儿是否合并心外系统畸形,并结合临床筛查指标建议行染色体检查。

  2. Role of Abnormal Sperm Morphology in Predicting Pregnancy Outcomes.

    Science.gov (United States)

    Shabtaie, Samuel A; Gerkowicz, Sabrina A; Kohn, Taylor P; Ramasamy, Ranjith

    2016-09-01

    The evaluation of strict morphology for predicting successful pregnancy has been controversial, nevertheless remains an essential component of semen analysis. Patients with teratozoospermia (abnormal strict morphology) have traditionally been counseled to undergo assisted reproduction. However, recent studies suggest that patients with abnormal sperm morphology alone should not be precluded from attempting natural conception before undergoing assisted reproduction. The goal of this review is to provide an update on the evaluation of sperm morphology for prognosis in assisted reproductive techniques such as intrauterine insemination and in vitro fertilization with or without intracytoplasmic sperm injection. Additionally, we propose a logical approach to the evaluation of a patient with teratozoospermia seeking fertility treatment. PMID:27469478

  3. ETOPOSIDE INDUCES CHROMOSOMAL ABNORMALITIES IN SPERMATOCYTES AND SPERMATOGONIAL STEM CELLS

    Energy Technology Data Exchange (ETDEWEB)

    Marchetti, F; Pearson, F S; Bishop, J B; Wyrobek, A J

    2005-07-15

    Etoposide (ET) is a chemotherapeutic agent widely used in the treatment of leukemia, lymphomas and many solid tumors, such as testicular and ovarian cancers, that affect patients in their reproductive years. The purpose of the study was to use sperm FISH analyses to characterize the long-term effects of ET on male germ cells. We used a mouse model to characterize the induction of chromosomal aberrations (partial duplications and deletions) and whole chromosomal aneuploidies in sperm of mice treated with a clinical dose of ET. Semen samples were collected at 25 and 49 days after dosing to investigate the effects of ET on meiotic pachytene cells and spermatogonial stem-cells, respectively. ET treatment resulted in major increases in the frequencies of sperm carrying chromosomal aberrations in both meiotic pachytene (27- to 578-fold) and spermatogonial stem-cells (8- to 16-fold), but aneuploid sperm were induced only after treatment of meiotic cells (27-fold) with no persistent effects in stem cells. These results demonstrate that male meiotic germ cells are considerably more sensitive to ET than spermatogonial stem-cell and that increased frequencies of sperm with structural aberrations persist after spermatogonial stem-cell treatment. These findings predict that patients who undergo chemotherapy with ET may have transient elevations in the frequencies of aneuploid sperm, but more importantly, may have persistent elevations in the frequencies of sperm with chromosomal aberrations, placing them at higher risk for abnormal reproductive outcomes long after the end of their chemotherapy.

  4. Hidden chromosomal abnormalities in pleuropulmonary blastomas identified by multiplex FISH

    Directory of Open Access Journals (Sweden)

    Coze Carole

    2006-01-01

    Full Text Available Abstract Background Pleuropulmonary blastoma (PPB is a rare childhood dysontogenetic intrathoracic neoplasm associated with an unfavourable clinical behaviour. Cases presentation We report pathological and cytogenetic findings in two cases of PPB at initial diagnosis and recurrence. Both tumors were classified as type III pneumoblastoma and histological findings were similar at diagnosis and relapse. In both cases, conventional cytogenetic techniques revealed complex numerical and structural chromosomal abnormalities. Molecular cytogenetic analysis (interphase/metaphase FISH and multicolor FISH identified accurately chromosomal aberrations. In one case, TP53 gene deletion was detected on metaphase FISH. To date, only few cytogenetic data have been published about PPB. Conclusion The PPB genetic profile remains to be established and compared to others embryonal neoplasia. Our cytogenetic data are discussed reviewing cytogenetics PPBs published cases, illustrating the contribution of multicolor FISH in order to identify pathogenetically important recurrent aberrations in PPB.

  5. Hidden chromosomal abnormalities in pleuropulmonary blastomas identified by multiplex FISH

    International Nuclear Information System (INIS)

    Pleuropulmonary blastoma (PPB) is a rare childhood dysontogenetic intrathoracic neoplasm associated with an unfavourable clinical behaviour. We report pathological and cytogenetic findings in two cases of PPB at initial diagnosis and recurrence. Both tumors were classified as type III pneumoblastoma and histological findings were similar at diagnosis and relapse. In both cases, conventional cytogenetic techniques revealed complex numerical and structural chromosomal abnormalities. Molecular cytogenetic analysis (interphase/metaphase FISH and multicolor FISH) identified accurately chromosomal aberrations. In one case, TP53 gene deletion was detected on metaphase FISH. To date, only few cytogenetic data have been published about PPB. The PPB genetic profile remains to be established and compared to others embryonal neoplasia. Our cytogenetic data are discussed reviewing cytogenetics PPBs published cases, illustrating the contribution of multicolor FISH in order to identify pathogenetically important recurrent aberrations in PPB

  6. Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality

    OpenAIRE

    Manassero-Morales, Gioconda; Alvarez-Manassero, Denisse; Merino-Luna, Alfredo

    2016-01-01

    Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorp...

  7. Amniotic fluid inhibin-A in chromosomally normal and Down's syndrome pregnancies.

    Science.gov (United States)

    Wallace, E M; Crossley, J A; Groome, N P; Aitken, D A

    1997-01-01

    Recently, inhibin-A has been shown to be a useful new prenatal marker of Down's syndrome, significantly increasing detection rates. While the placenta is believed to be the major source of inhibin in pregnancy, there are actually very limited data available on specific inhibin dimers in pregnancy. Using a sensitive and specific ELISA we have measured the inhibin-A content of amniotic fluid (AF) to investigate further the biology of inhibin-A in chromosomally normal and abnormal pregnancies. AF from 51 Down's syndrome and 161 chromosomally normal pregnancies between 16 and 19 weeks of gestation were analysed, blinded as to whether the sample was from a Down's syndrome or normal pregnancy. There were no sex differences in inhibin-A content in either the control or Down's syndrome pregnancies. The median (10-90th percentiles) inhibin-A level in the control pregnancies increased from 339.6 (175.2-649.1) pg/ml at 16 weeks to 592.9 (256.4-1027.3) pg/ml at 19 weeks of gestation. The median (95% confidence interval) inhibin-A in the Down's syndrome pregnancies, expressed as multiples of the median (MoM) to correct for gestation, was 0.77 (0.68-0.89) MoM, significantly lower than the controls (P < 0.001, Mann-Whitney U test). We believe that these data are compatible with more than one source of inhibin-A in pregnancy and suggest that the fetal membranes may be contributing significantly to AF inhibin-A content. Further, our data would suggest that the endocrine function of the placenta and the other inhibin source(s) are differentially regulated. PMID:9014845

  8. Robin sequence associated with karyotypic mosaicism involving chromosome 22 abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Salinas, C.F.; Jastrzab, J.M.; Centu, E.S. [Medical Univ. of South Carolina, Charleston, SC (United States)

    1994-09-01

    Robin sequence is characterized by cleft palate, hypoplastic mandible, glossoptosis and respiratory difficulties. The Robin sequence may be observed as an isolated defect or as part of about 33 syndromes; however, to our knowledge, it has never been reported associated with chromosome 22 abnormalities. We examined a two-month-old black boy with a severe case of Robin sequence. Exam revealed a small child with hypoplastic mandible, glossoptosis, high palate and respiratory difficulty with continuous apnea episodes resulting in cyanotic lips and nails. In order to relieve the upper airway obstruction, his tongue was attached to the lower lip. Later a tracheostomy was performed. On follow-up exam, this patient was found to have developmental delay. Cytogenetic studies of both peripheral blood and fibroblast cells showed mosaicism involving chromosome 22 abnormalities which were designated as follows: 45,XY,-22/46,XY,-22,+r(22)/46,XY. Fluorescence in situ hybridization (FISH) studies confirmed the identity of the r(22) and showed the presence of the DiGeorge locus (D22575) but the absence of the D22539 locus which maps to 22q13.3. Reported cases of r(22) show no association with Robin sequence. However, r(22) has been associated with flat bridge of the nose, bulbous tip of the nose, epicanthus and high palate, all characteristics that we also observed in this case. These unusual cytogenetic findings may be causally related to the dysmorphology found in the patient we report.

  9. Advanced microtechnologies for detection of chromosome abnormalities by fluorescent in situ hybridization

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Vedarethinam, Indumathi; Shah, Pranjul;

    2012-01-01

    Cytogenetic and molecular cytogenetic analyses, which aim to detect chromosome abnormalities, are routinely performed in cytogenetic laboratories all over the world. Traditional cytogenetic studies are performed by analyzing the banding pattern of chromosomes, and are complemented by molecular cy...

  10. Women's experiences of coping with pregnancy termination for fetal abnormality.

    Science.gov (United States)

    Lafarge, Caroline; Mitchell, Kathryn; Fox, Pauline

    2013-07-01

    Pregnancy termination for fetal abnormality (TFA) can have significant psychological consequences. Most previous research has been focused on measuring the psychological outcomes of TFA, and little is known about the coping strategies involved. In this article, we report on women's coping strategies used during and after the procedure. Our account is based on experiences of 27 women who completed an online survey. We analyzed the data using interpretative phenomenological analysis. Coping comprised four structures, consistent across time points: support, acceptance, avoidance, and meaning attribution. Women mostly used adaptive coping strategies but reported inadequacies in aftercare, which challenged their resources. The study's findings indicate the need to provide sensitive, nondirective care rooted in the acknowledgment of the unique nature of TFA. Enabling women to reciprocate for emotional support, promoting adaptive coping strategies, highlighting the potential value of spending time with the baby, and providing long-term support (including during subsequent pregnancies) might promote psychological adjustment to TFA.

  11. Frequencies of fetal chromosomal abnormalities at prenatal diagnosis: 10 years experiences in a single institution.

    OpenAIRE

    Park, S. Y.; J.W. Kim; Y.M. Kim; Kim, J.M.; Lee, M. H.; Lee, B. Y.; Han, J. Y.; Kim, M. Y.; Yang, J. H.; Ryu, H. M.

    2001-01-01

    We present frequencies of fetal chromosomal abnormalities in 4,907 prenatal cytogenetic examinations at Samsung Cheil Hospital from 1988 to 1997 for 10 yr duration. Prenatal karyotypes were undertaken in 3,913 amniotic fluid samples, 800 chorionic villi samples, and 194 percutaneous umbilical blood samples. The frequency of fetal abnormal karyotypes was 3.1% (150 cases). Numerical chromosome abnormalities were 87 cases (1.8%) and structural aberrations of chromosomes were 63 cases (1.3%). In ...

  12. Chromosomal Abnormalities in Iranian Infertile Males who are Candidates for Assisted Reproductive Techniques

    Directory of Open Access Journals (Sweden)

    Iman Salahshourifar

    2007-01-01

    Full Text Available Background: The present study offers our contribution on the topic by a retrospective analysis of the prevalence of chromosomal abnormalities in a population of Iranian infertile men attending assisted reproduction programs.Materials and Methods: Cytogenetic analysis was performed according to standard methods on cultured cells obtained from the patient peripheral blood. In all, 874 files belonging to male partner of each couple were classified as follows: azoospermic, oligozoospermic and patients with low sperm quality in respect of morphology and motility.Results: Chromosomal abnormalities were observed in 136(15.5% individuals of the whole population studied including 12.0 %, 1.2 % and 2.0% of azoospermic, oligozoospermic and patients with low sperm quality, respectively. Of those, 116 (13.2% had sex chromosome abnormalities and 20(2.3% had autosomal chromosome abnormalities.Conclusion: We observed high frequency of aneuploidy and sex chromosomal mosaicism in azoospermic men and high structural aberrations in males with low sperm quality. We suggested that type of chromosomal abnormalities had an inverse relation to sperm count. So that, high chromosomal aneuploidy was detected in males with lower sperm count and high structural aberration was detected in males with low sperm quality. Chromosomal abnormalities are a major cause of male infertility. Consequently, Genetic testing and counselling is indicated for infertile men with abnormal semen parameters with either abnormal karyotype or normal karyotype before applying assisted reproductive techniques.

  13. Occurrence and type of chromosomal abnormalities in consecutive malignant monoclonal gammopathies: correlation with survival

    DEFF Research Database (Denmark)

    Lisse, I M; Drivsholm, A; Christoffersen, P

    1988-01-01

    Chromosome studies were done on 73 patients with multiple myeloma and three patients with plasma cell leukemia. Eighteen of 76 patients (24%) had chromosomally abnormal clones, including all three patients with PCL. The most common anomalous chromosomes were #1, #14, and #12. In addition, i(17q...

  14. Prenatal Diagnosis of Chromosome Abnormalities: A 13-Year Institution Experience

    Directory of Open Access Journals (Sweden)

    Carmen Comas

    2012-11-01

    Full Text Available Objective: To analyze trends in screening and invasive prenatal diagnosis of chromosome abnormalities (CA over a 13-year period and correlate them to changes in the national prenatal screening policy. Methods: We retrospectively reviewed Down syndrome (DS screening tests and fetal karyotypes obtained by prenatal invasive testing (IT in our fetal medicine unit between January 1999 and December 2011. Results: A total of 24,226 prenatal screening tests for DS and 11,045 invasive procedures have been analyzed. Over a 13-year period, utilization of non-invasive screening methods has significantly increased from 57% to 89%. The percentage of invasive procedures has declined from 49% to 12%, although the percentage of IT performed for maternal anxiety has increased from 22% to 55%. The percentage of detected CA increased from 2.5% to 5.9%. Overall, 31 invasive procedures are needed to diagnose 1 abnormal case, being 23 procedures in medical indications and 241 procedures in non-medical indications. Conclusions: Our experience on screening and invasive prenatal diagnostic practice shows a decrease of the number of IT, with a parallel decline in medical indications. There is an increasing efficiency of prenatal screening program to detect CA. Despite the increasing screening policies, our population shows a growing request for prenatal IT. The a priori low risk population shows a not negligible residual risk for relevant CA. This observation challenges the current prenatal screening strategy focused on DS; showing that the residual risk is higher than the current cut-off used to indicate an invasive technique.

  15. Prenatal Diagnosis of Chromosome Abnormalities: A 13-Year Institution Experience

    Science.gov (United States)

    Comas, Carmen; Echevarria, Mónica; Rodríguez, María Ángeles; Rodríguez, Ignacio; Serra, Bernat; Cirigliano, Vincenzo

    2012-01-01

    Objective: To analyze trends in screening and invasive prenatal diagnosis of chromosome abnormalities (CA) over a 13-year period and correlate them to changes in the national prenatal screening policy. Methods: We retrospectively reviewed Down syndrome (DS) screening tests and fetal karyotypes obtained by prenatal invasive testing (IT) in our fetal medicine unit between January 1999 and December 2011. Results: A total of 24,226 prenatal screening tests for DS and 11,045 invasive procedures have been analyzed. Over a 13-year period, utilization of non-invasive screening methods has significantly increased from 57% to 89%. The percentage of invasive procedures has declined from 49% to 12%, although the percentage of IT performed for maternal anxiety has increased from 22% to 55%. The percentage of detected CA increased from 2.5% to 5.9%. Overall, 31 invasive procedures are needed to diagnose 1 abnormal case, being 23 procedures in medical indications and 241 procedures in non-medical indications. Conclusions: Our experience on screening and invasive prenatal diagnostic practice shows a decrease of the number of IT, with a parallel decline in medical indications. There is an increasing efficiency of prenatal screening program to detect CA. Despite the increasing screening policies, our population shows a growing request for prenatal IT. The a priori low risk population shows a not negligible residual risk for relevant CA. This observation challenges the current prenatal screening strategy focused on DS; showing that the residual risk is higher than the current cut-off used to indicate an invasive technique. PMID:26859399

  16. Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan

    OpenAIRE

    Thomas George H; Ye Ying; Ting Jason C; Ruczinski Ingo; Pevsner Jonathan

    2006-01-01

    Abstract Background A variety of diseases are caused by chromosomal abnormalities such as aneuploidies (having an abnormal number of chromosomes), microdeletions, microduplications, and uniparental disomy. High density single nucleotide polymorphism (SNP) microarrays provide information on chromosomal copy number changes, as well as genotype (heterozygosity and homozygosity). SNP array studies generate multiple types of data for each SNP site, some with more than 100,000 SNPs represented on e...

  17. Retrospective analysis of fetal sex chromosome abnormalities%胎儿性染色体异常的回顾性分析

    Institute of Scientific and Technical Information of China (English)

    欧德明; 董兴盛; 江陵; 陆林苑; 王德刚

    2015-01-01

    Objective To investigate the incidence of fetal sex chromosomal abnormalities, the distribution of various sex chromosome abnormal karyotypes and the outcomes of pregnancy, in order to provide more evidences for genetic counseling. Methods The cytogenetic analysis results of 8 864 pregnant women underwent prenatal diagnosis in Zhongshan Fraternity Hospital Prenatal Diagnosis Centre during 2009~2013 were retrospectively analyzed. The results of fetal sex chromosome abnormalities and pregnancy outcomes were summarized. Results Among the 57 cases(0. 64 %) with sex chromosomal abnormalities, there were 53 cases were chromosome number abnormalities(0. 60 %), 37 cases were simple type, 16 cases were mosaicism, in which 29 cases were Turner syndrome, 4 cases were XYY syndrome, 11 cases were XXX syndrome,9 cases were XXY syndrome, and 4 cases were chromosomal structural abnormalities ( 0. 05 %) . Conclusion Invasive prenatal diagnosis has an important role for determining fetal sex chromosome abnormalities, and serological screening and B-ultrasound has an important value for fetal sex chromosome abnormalities. The pregnancy outcome and ethical issues related guidelines of fetal sex chromosomal abnormalities need to be developed.%目的 探讨胎儿性染色体异常的发生率、常见分布情况及妊娠结局,为遗传咨询提供更多信息. 方法 回顾性分析2009~2013年中山市博爱医院产前诊断中心8 864 例孕妇产前诊断的染色体检验结果,总结性染色体异常发生情况及妊娠结局. 结果 共检出性染色体异常胎儿57例(0. 64 %). 性染色体异常中,染色体数目异常53例(0. 60%),单纯型37例,嵌合型16例,其中Turner综合征29例,XYY综合征4例,XXX综合征11例,XXY综合征9例;性染色体结构异常4例( 0. 05 %). 结论 介入性产前诊断对确定胎儿性染色体异常具有重要作用. 性染色体异常胎儿的妊娠结局及伦理问题需要国家层面制定相关指南.

  18. Ring chromosome 18 abnormality in acute myelogenous leukemia: the clinical dilemma

    Directory of Open Access Journals (Sweden)

    Malone Adriana K

    2010-07-01

    Full Text Available Abstract The ring chromosome is a circular, structural abnormality composed of either multiple chromosomes or a single chromosome with loss of genetic material at one or both ends. This chromosomal rearrangement is often unstable with frequent recombinations and may be accompanied by either loss or amplification of genetic material1. Considering that ring chromosomes are rare in acute myelogenous leukemia (AML, it is difficult to risk stratify patient prognosis, particularly when the ring chromosome occurs as the sole abnormality. Here we report a case of a ring chromosome 18 abnormality in a patient with newly diagnosed AML with monocytic differentiation. Cytogenetic analysis demonstrated 46, XY, r(18(p11q21 karyotype in 19 of 34 evaluated metaphase cells. The patient received induction chemotherapy and subsequent allogeneic cord blood transplant from a sex-matched donor, and remained in hematologic and cytogenetic remission for 120 days post transplant. Soon after, he developed post transplant lymphoproliferative disorder and died of multi-organ failure. Although r(18 chromosomal abnormalities were not classified in the recent updated evidence-and expert opinion-based recommendations for the diagnosis and management of AML (likely due to the small number of reported cases, the patient was treated as high risk with stem cell transplantation. This was based on the unstable nature of the ring chromosome and the poor outcomes described in the literature of patients with sole ring 18 abnormalities.

  19. A prospective clinical study of feto-maternal outcome in pregnancies with abnormal liquor volume

    OpenAIRE

    Rutwa J. Chavda; Hardev B. Saini

    2014-01-01

    Background: Evaluating feto-maternal outcome in pregnancies with abnormal liquor volume. Methods: 200 pregnant subjects between 20 and 42 weeks of gestation, who were clinically suspected to have an abnormal amniotic fluid volume (oligohydramnios or polyhydramnios) were subjected to ultrasonographic (USG) assessment of amniotic fluid index. The subjects were closely monitored during pregnancy, labour and puerperium. Results: Ultrasonically, abnormal liquor volume was confirmed in 90-93...

  20. Risk of chromosomal abnormalities in early spontaneous abortion after assisted reproductive technology: a meta-analysis.

    Directory of Open Access Journals (Sweden)

    Jun-Zhen Qin

    Full Text Available BACKGROUND: Studies on the risk of chromosomal abnormalities in early spontaneous abortion after assisted reproductive technology (ART are relatively controversial and insufficient. Thus, to obtain a more precise evaluation of the risk of embryonic chromosomal abnormalities in first-trimester miscarriage after ART, we performed a meta-analysis of all available case-control studies relating to the cytogenetic analysis of chromosomal abnormalities in first-trimester miscarriage after ART. METHODS: Literature search in the electronic databases MEDLINE, EMBASE, and Cochrane Central Register of Controlled Trials (CENTRAL based on the established strategy. Meta-regression, subgroup analysis, and Galbraith plots were conducted to explore the sources of heterogeneity. RESULTS: A total of 15 studies with 1,896 cases and 1,186 controls relevant to the risk of chromosomal abnormalities in first- trimester miscarriage after ART, and 8 studies with 601 cases and 602 controls evaluating frequency of chromosome anomaly for maternal age≥35 versus <35 were eligible for the meta-analysis. No statistical difference was found in risk of chromosomally abnormal miscarriage compared to natural conception and the different types of ART utilized, whereas the risk of fetal aneuploidy significantly increased with maternal age≥35 (OR 2.88, 95% CI: 1.74-4.77. CONCLUSIONS: ART treatment does not present an increased risk for chromosomal abnormalities occurring in a first trimester miscarriage, but incidence of fetal aneuploidy could increase significantly with advancing maternal age.

  1. Chromosome abnormalities in Japanese Burkitt lymphoma cell lines.

    Directory of Open Access Journals (Sweden)

    Hamasaki,Kazuhide

    1982-02-01

    Full Text Available Six established Japanese Burkitt lymphoma (BL cell lines including one case with null cell type were studied by chromosomal banding techniques. The modal chromosome number was diploid or nearly diploid in five cases and hyperdiploid in one case. The marker chromosome 14q+ was observed in four of the six cases; the origin of the extra band was a chromosome 8 in three including the null cell case but could not be identified in the other. The two cases lacking the 14q+ marker had variant translocations involving the long arm of chromosome 8, one of which carried a translocation, t(8;22 (q24;q13 and the other a translocation, t(2;8 (p12;q24. Although structural and/or numerical aberrations were found in all six cell lines, chromosome 8 was the one most consistently involved. This frequent involvement of chromosome 8 in aberrations; therefore, may be an important event in the development of BL rather than the presence of a 14q+ marker chromosome.

  2. Chromosomal abnormalities and polymorphic variants in couples with repeated miscarriage in Mexico.

    Science.gov (United States)

    De la Fuente-Cortés, Beatriz E; Cerda-Flores, Ricardo M; Dávila-Rodríguez, Martha I; García-Vielma, Catalina; De la Rosa Alvarado, Rosa M; Cortés-Gutiérrez, Elva I

    2009-04-01

    Cytogenetic studies have an important role in the evaluation of couples with repeated miscarriages and poor obstetric history. To estimate the prevalence of chromosomal abnormalities and polymorphic variants in 158 couples with repeated miscarriages, a cross-sectional study was conducted in Monterrey, Mexico from 1995 to 2003. Peripheral blood lymphocytes were cultured for chromosomal studies using standard methods. Twelve couples showed chromosomal abnormalities (7.60%), two Robertsonian translocations (1.27%), two balanced translocations (1.27%), one inversion (0.63%), and one a novel insertion (0.63%). This insertion [46, XX, ins (15;8) (q26;p11p23)] is unique, and is the third reported in association with repeated abortion. Mosaicism was observed in six couples (3.80%, three with structural abnormalities and three with numerical abnormalities). A female to male ratio of 1.4:1 was observed. In addition to these chromosomal abnormalities, polymorphic variants in constitutive heterochromatin of the 1qh+, 9qh+, and 16qh+ chromosomes were observed in 25 couples (15.82%), of the Yqh+ chromosome in 21 couples (13.29%), and of satellite in 35 couples (22.15%). In conclusion, chromosome analysis is necessary for appropriate clinical management of these patients.

  3. Occurrence of cancer in a cohort of 183 persons with constitutional chromosome 7 abnormalities

    DEFF Research Database (Denmark)

    Hasle, H; Olsen, J H; Hansen, J;

    1998-01-01

    Cytogenetic abnormalities in human malignancies frequently involve chromosome 7. The existence of several tumor suppressor genes on the long arm of chromosome 7 has been suggested in both epithelial and hematologic malignancies. From the Danish Cytogenetic Register, we identified 183 persons...... with constitutional abnormalities involving chromosome 7, including 16 patients with Williams syndrome. By linkage to the Danish Cancer Registry, we found five persons with cancer, including one thyroid carcinoma, three carcinomas of the digestive tract, and one malignant melanoma. There were no cases of leukemia...

  4. The analysis of advanced age pregnancy and Down′s screening for fetal chromosomal abnormalities in the prenatal%高龄妊娠与唐氏筛查高风险的产前诊断染色体异常分析

    Institute of Scientific and Technical Information of China (English)

    胡丹; 李海军; 李志华; 陈敏; 孙筱放

    2015-01-01

    Objective To explore if the high‐risk of Down′s screening can predict the fetal chromosomal abnormalities for the advanced age pregnant women ,provide a scientific basis for the advanced age pregnant women to select the Down′s screening .Meth‐ods Reviewed the patients which had the indications of prenatal diagnostic because of advanced age and the high‐risk of Down′s screening from January 2010 to June 2013 ,a total of 2 335 cases .All the maternal age were ≥35 years old and the average age was 37 .43 ± 2 .93 .All the cases were carried out karyotype analysis that the samples were from amniotic fluid ,umbilical cord blood or villus ,the training success rate is 99 .5% .Results We found 177 cases abnormal fetal chromosome in the 2 335 cases advanced age women ,the abnormal rate is 7 .58% .The greater the age ,the higher of the chromosomal abnormalities rate in the unusual cases .In addition to chromosomal polymorphism ,the trisomy of the chromosome and inversions between chromosome arms are the most common chromosomal abnormalities .Conclusion Conducted the Down′s screening in the advanced age women can improve the screening rates of the fetal chromosomal abnormalities .It is necessary for the high‐risk of Down′s screening in advanced age preg‐nant women to have the prenatal diagnosis to investigate the fetal chromosomal abnormalities .%目的:探讨唐氏筛查高风险对高龄妊娠染色体异常是否具有预测意义,为高龄孕妇选择唐氏筛查筛选染色体异常提供科学依据。方法回顾该院2010年1月至2013年6月因高龄妊娠唐氏筛查高风险有产前诊断指征前来咨询的病例共2335例,所有孕妇年龄均大于或等于35岁,平均(37.43±2.93)岁。病例均进行了羊水或脐带血细胞绒毛培养染色体核型分析,培养成功率99.5%,然后对染色体核型结果进行分析。结果2335例高龄孕妇中产前诊断染色体结果异常的共有177

  5. FISH studies of chromosome abnormalities in germ cells and its relevance in reproductive counseling

    Institute of Scientific and Technical Information of China (English)

    Zaida Sarrate; Joan Blanco; Ester Anton; Susana Egozcue; Josep Egozcue; Francesca Vidal

    2005-01-01

    Chromosome abnormalities are one of the major causes of human infertility. In infertile males, abnormal karyotypes are more frequent than in the general population. Furthermore, meiotic disorders affecting the germ cell-line have been observed in men with normal somatic karyotypes consulting for infertility. In both cases, the production of unbalanced spermatozoa has been demonstrated. Basically addressed to establish reproductive risks, fluorescence in situ hybridization (FISH) on decondensed sperm heads has become the most frequently used method to evaluate the chromosomal constitution of spermatozoa in carriers of numerical sex chromosome abnormalities, carriers of structural chromosome reorganizations and infertile males with normal karyotype. The aim of this review is to present updated figures of the information obtained through sperm FISH studies with an emphasis on its clinical significance. Furthermore, the incorporation of novel FISH-based techniques (Multiplex-FISH; Multi-FISH) in male infertility studies is also discussed.

  6. Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality.

    Science.gov (United States)

    Manassero-Morales, Gioconda; Alvarez-Manassero, Denisse; Merino-Luna, Alfredo

    2016-01-01

    Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X),+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis.

  7. Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality.

    Science.gov (United States)

    Manassero-Morales, Gioconda; Alvarez-Manassero, Denisse; Merino-Luna, Alfredo

    2016-01-01

    Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X),+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis. PMID:27672470

  8. Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality

    Science.gov (United States)

    Alvarez-Manassero, Denisse; Merino-Luna, Alfredo

    2016-01-01

    Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X),+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis. PMID:27672470

  9. Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality

    Directory of Open Access Journals (Sweden)

    Gioconda Manassero-Morales

    2016-01-01

    Full Text Available Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X,+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis.

  10. Identification of chromosome abnormalities in the horse using a panel of chromosome-specific painting probes generated by microdissection.

    Science.gov (United States)

    Bugno, Monika; Słota, Ewa; Pieńkowska-Schelling, Aldona; Schelling, Claude

    2009-09-01

    Fluorescent in situ hybridisation (FISH) using a panel of molecular probes for all chromosome pairs obtained by chromosome microdissection of the domestic horse ( Equus caballus ) was used to diagnose karyotype abnormalities in 35 horses (32 mares, 2 stallions and 1 intersex), which were selected for the study due to infertility (23 horses), reduced fertility (10 horses) and developmental anomalies (2 horses). The use of the FISH technique with probes for each horse chromosome pair enabled the diagnosis of many different chromosome aberrations in this population. Among the horses analysed, 21 animals had normal karyotype - 64,XX (19 mares) and 64,XY (2 stallions). Fourteen animals, constituting 40% of the population studied, showed the following chromosome abnormalities: 63,X (1 mare); 63,X/64,XX (6 mares); 63,X/64,XX/65,XXX (3 mares); 63,X/65,XXX (1 mare); 64,XX/65,XX+Xp (1 mare); 63,X/64,XX/65,XX+Xq (1 mare), and 63,X/64,XX/65,XX+delY (1 intersex). When only the mares studied because of complete infertility were taken into consideration, this proportion exceeded 56%. Due to the increased frequency of the above-mentioned aberrations in the mosaic form of two or more lines, it was necessary to analyse a large number (100-300) of metaphase spreads. The use of specific molecular probes obtained by chromosome microdissection made these diagnoses much easier.

  11. Chromosomal abnormalities in non-neoplastic renal tissue

    NARCIS (Netherlands)

    vandenBerg, E; Dijkhuizen, T; Storkel, S; Molenaar, WM; deJong, B

    1995-01-01

    Chromosome aberrations were studied in short-term cultures of non-neoplastic renal tissue and tumor tissue in 60 patients, 41 male and 19 female, with renal cell cancer (RCC), and in normal renal parenchyma from two cases, one male and one female, at autopsy with non-kidney related disease. Cytogene

  12. Cytogenetic analysis of couples with abnormal pregnancy%不良孕产史夫妇的细胞遗传学分析

    Institute of Scientific and Technical Information of China (English)

    张清健; 蔡慧娜; 方俊宇; 朱志勇; 郑立新; 田佩玲; 叶嘉玲; 杨卫; 王柏贤; 徐珊珊; 周冰燚; 赵文忠

    2011-01-01

    Objective To investigate the relationships between abnormal pregnancy and chromosome aberration and chromosomal polymorphism. Methods Chromosome specimens were made using routine culture of peripheral blood lymphocytes. Karyotyping was conducted mainly by G banding. Statistical analysis was performed on the occurrence rates of chromosome aberration and chromosomal polymorphism between abnormal pregnancy couples and the general population. Results There were statistical differences in the occurrence rates of balanced translocation, inversion and Yqh+ between abnormal pregnancy couples and the general population. But no statistical differences in the occurrence rates of robertsonian translocation and inv(9) were found between two groups. Conclusion Abnormal chromosomes structure might beone of the most important reasons for abnormal pregnancy. And Yqh+,but no.inv(9), might cause abnormal pregnancy in the carriers.%目的 探讨不良孕产与染色体异常和多态的关系.方法 对573对不良孕产史夫妇进行常规染色体G显带分析,并对不良孕产史夫妇和普通人群染色体异常和多态染色体的发生率进行统计学分析.结果 染色体平衡易位、倒位以及染色体多态中Y染色本的长臂延长(Yqh+)在不良孕产史夫妇组与普通人群的发生率有统计学差异;而罗氏易位和9号染色体臂间倒位[inv(9)]在两组的发生率无统计学差异.结论 染色体结构异常是导致不良孕产的重要原因之一,染色体多态中Yqh+也可导致不良孕产,而inv(9)可能不会导致不良孕产.

  13. Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

    Science.gov (United States)

    This study was designed to evaluate the feasibility of using a targeted array-CGH strategy for prenatal diagnosis of genomic imbalances in a clinical setting of current pregnancies. Women undergoing prenatal diagnosis were counseled and offered array-CGH (BCM V4.0) in addition to routine chromosome ...

  14. Management of the abnormal Papanicolaou smear and colposcopy in pregnancy: an evidenced-based review.

    Science.gov (United States)

    Fleury, A C; Birsner, M L; Fader, A N

    2012-04-01

    Women diagnosed with abnormal Papanicolau smears or cervical abnormalities during pregnancy present a challenge to health care providers, as conventional management guidelines appropriate for the non-pregnant population may be contraindicated. The physiologic effects of pregnancy that may result in greater difficulty with the colposcopic examination include increased cervical mucus production that may obscure visualization, cervical hyperemia, gland prominence, and eversion of the columnar epithelium. The squamo-columnar junction may also be difficult to visualize in early pregnancy, but will often evert as the pregnancy continues. Because of these changes, cervical dysplasia may have a more prominent appearance in the gravid patient. Therefore, colposcopy should be performed by a skilled examiner with expertise in the cervical changes of pregnancy. The primary goal of colposcopy during pregnancy is to exclude the presence of invasive cancer, and thus, many cervical lesions may be followed with serial cytology and colposcopy during pregnancy or by deferring further colposcopic examination until the postpartum period. Cervical biopsy should be avoided unless a malignancy is suspected and endocervical sampling is contraindicated. Herein, we present a contemporary, evidence-based review of the colposcopic examination and guidelines for triaging and evaluating abnormal cervical cytology and lesions that are diagnosed during pregnancy.

  15. A time stamp comparative analysis of frequent chromosomal abnormalities in Romanian patients.

    Science.gov (United States)

    Suciu, Nicolae; Plaiasu, Vasilica

    2014-01-01

    Chromosome abnormalities represent the leading cause in many human genetic disorders. Gain or loss of genetic material can disrupt the normal expression of genes important in fetal development and result in abnormal phenotypes. Approximately 60% of first-trimester spontaneous abortions exhibit karyotype abnormalities. The majority of these abnormalities consist of numerical chromosomal changes, such as autosomal trisomy, monosomy X and polyploidy. In our current study, 411 cases were analyzed over a period of 5 years, which reflected the incidence of cytogenetic abnormalities in Romania. Down syndrome showed the highest frequency at 79%. At 2.6% structural chromosome abnormality syndromes and Turner syndrome followed suit. Next were the Edwards and Patau syndromes with an incidence of 1.2%. Klinefelter, Cri du chat and Wolf-Hirschhorn syndromes all had an incidence of 0.7%. Finally, the lowest frequencies were shown by Williams at 0.4% and only one case of Beckwith-Wiedemann syndrome with abnormal karyotype. The average maternal age at childbirth was 31.15 years (SD = 6.96) and the average paternal age was 33.41 years (SD = 7.17). PMID:23570267

  16. Chromosomal abnormalities and hormonal disorders of primary amenorrhea patients in Egypt

    OpenAIRE

    Faeza El-Dahtory

    2012-01-01

    Background: Primary amenorrhea is defined as the absence of menstruation and secondary sexual characteristics in phenotypic women aged 14 years or older. Hormonal disorders are main causes of primary amenorrhea. Common hormonal cause of primary amenorrhea includes pituitary dysfunction and absent ovarian function. The aim of this study was to estimate the incidence and types of chromosomal abnormalities in patients with primary amenorrhea in Egypt. Materials and Methods: Chromosomal analys...

  17. Endocrine abnormalities in ring chromosome 11: a case report and review of the literature

    OpenAIRE

    Lange, Renata; Von Linsingen, Caoê; Mata, Fernanda; Moraes, Aline Barbosa; Arruda, Mariana; Vieira Neto, Leonardo

    2015-01-01

    Summary Ring chromosomes (RCs) are uncommon cytogenetic findings, and RC11 has only been described in 19 cases in the literature. Endocrine abnormalities associated with RC11 were reported for two of these cases. The clinical features of RC11 can result from an alteration in the structure of the genetic material, ring instability, mosaicism, and various extents of genetic material loss. We herein describe a case of RC11 with clinical features of 11q-syndrome and endocrine abnormalities that h...

  18. Method of detecting genetic deletions identified with chromosomal abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Gray, Joe W; Pinkel, Daniel; Tkachuk, Douglas

    2013-11-26

    Methods and compositions for staining based upon nucleic acid sequence that employ nucleic acid probes are provided. Said methods produce staining patterns that can be tailored for specific cytogenetic analyzes. Said probes are appropriate for in situ hybridization and stain both interphase and metaphase chromosomal material with reliable signals. The nucleic acids probes are typically of a complexity greater tha 50 kb, the complexity depending upon the cytogenetic application. Methods and reagents are provided for the detection of genetic rearrangements. Probes and test kits are provided for use in detecting genetic rearrangements, particlularly for use in tumor cytogenetics, in the detection of disease related loci, specifically cancer, such as chronic myelogenous leukemia (CML) and for biological dosimetry. Methods and reagents are described for cytogenetic research, for the differentiation of cytogenetically similar ut genetically different diseases, and for many prognostic and diagnostic applications.

  19. Gene dosage methods as diagnostic tools for the identification of chromosome abnormalities.

    Science.gov (United States)

    Gouas, L; Goumy, C; Véronèse, L; Tchirkov, A; Vago, P

    2008-09-01

    Cytogenetics is the part of genetics that deals with chromosomes, particularly with numerical and structural chromosome abnormalities, and their implications in congenital or acquired genetic disorders. Standard karyotyping, successfully used for the last 50 years in investigating the chromosome etiology in patients with infertility, fetal abnormalities and congenital disorders, is constrained by the limits of microscopic resolution and is not suited for the detection of subtle chromosome abnormalities. The ability to detect submicroscopic chromosomal rearrangements that lead to copy-number changes has escalated progressively in recent years with the advent of molecular cytogenetic techniques. Here, we review various gene dosage methods such as FISH, PCR-based approaches (MLPA, QF-PCR, QMPSF and real time PCR), CGH and array-CGH, that can be used for the identification and delineation of copy-number changes for diagnostic purposes. Besides comparing their relative strength and weakness, we will discuss the impact that these detection methods have on our understanding of copy number variations in the human genome and their implications in genetic counseling. PMID:18513889

  20. Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

    DEFF Research Database (Denmark)

    Talkowski, Michael E.; Rosenfeld, Jill A.; Blumenthal, Ian;

    2012-01-01

    Sequencing of balanced chromosomal abnormalities, combined with convergent genomic studies of gene expression, copy-number variation, and genome-wide association, identifies 22 new loci that contribute to autism and related neurodevelopmental disorders. These data support a polygenic risk model f...

  1. Assessment of Molecular Cytogenetic Methods for the Detection of Chromosomal Abnormalities

    Directory of Open Access Journals (Sweden)

    Une,Tomoka

    2006-10-01

    Full Text Available Some marker chromosomes and chromosome rearrangements are difficult to identify using G-bands by Giemsa staining after trypsin treatment (G-banding alone. Molecular cytogenetic techniques, such as spectral karyotyping (SKY and fluorescence in situ hybridization (FISH, can help to detect chromosomal aberrations precisely. We analyzed the karyotypes in 6 cases of multiple congenital abnormalities and 1 case of spontaneous abortion (case 2. Three cases (cases 1, 6, and 7 had marker chromosomes, and 4 cases (cases 2-5 had chromosomal rearrangements. The karyotypes in cases 1, 2, and 3 were determined using FISH with probes based on the clinical findings and family histories. Spectral karyotyping (SKY analysis in cases 4-7 showed that this method is useful and saves time. The combination of SKY and FISH analyses defi ned the range of the ring chromosome in case 7. We demonstrated that a combination of G-banding, FISH, and SKY can be applied effectively to the investigation of chromosomal rearrangement and to the detection of marker chromosome origins. We suggest the use of these methods for prenatal diagnosis, in which the inherent time limitations are particularly important.

  2. Endovascular trophoblast cell behavior in normal and abnormal pregnancy

    OpenAIRE

    Endo, Yasuhiro

    1995-01-01

    Preeclampsia is an important disease during pregnancy and causes significant maternal and fetal mortality and morbidity. Despite intense research efforts, the etiology and pathogenesis of the disease remain largely unknown. Since placentas from preeclamptic patients are smaller than normal, and cytokine growth factors are suggested to be important in placental growth, the effects of macrophage-colony stimulating factor (M-CSF) on human trophoblast cells were examined. Wh...

  3. Comparison of normal and abnormal cardiotocography with pregnancy outcomes and early neonatal outcomes.

    Science.gov (United States)

    Sultana, Jobaida; Chowdhury, T A; Begum, Kohinoor; Khan, Manir Hossain

    2009-01-01

    Cardiotocography (CTG) is the most commonly used test for antepartum and intrapartum foetal surveillance in the majority hospitals of developed countries. The purpose of this study was to compare the pregnancy outcome and early neonatal outcome among the normal and abnormal CTG groups. In this prospective study, fifty consecutive normal and fifty consecutive abnormal CTG were collected within one hour before delivery from patients who have singleton pregnancy with gestational age >or=32 weeks and having obstetric or medical indication for CTG. In this study, the measure of pregnancy outcomes were mode of delivery, indications of caesarean section, percentage requiring caesarean section for foetal distress, oligohydramnios, meconium stained liquor, small placenta and cord around the neck. Early neonatal outcomes included apgar score, birth weight, admission into neonatal intensive care unit (NICU), duration of stay in NICU and perinatal mortality. There were significant differences between the two groups regarding pregnancy outcomes and early neonatal outcomes. So, CTG is an important test to assess the foetal condition in both antepartum and intrapartum period. The sensitivity of CTG was 87%, specificity was 66%, positive predictive value was 54% and negative predictive value was 92% in the prediction of abnormal outcomes. So, normal CTG is more predictive of normal outcomes than abnormal CTG regarding abnormal outcomes. PMID:19377417

  4. Pathophysiology of placentation abnormalities in pregnancy-induced hypertension

    Directory of Open Access Journals (Sweden)

    Mitsuko Furuya

    2008-11-01

    Full Text Available Mitsuko Furuya1, Junji Ishida2,3, Ichiro Aoki1, Akiyoshi Fukamizu2,31Department of Pathology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan; 2Graduate School of Life and Environmental Sciences; 3Center for Tsukuba Advanced Research Alliance (TARA, University of Tsukuba, Tsukuba 305-8577, JapanAbstract: During embryogenesis and development, the fetus obtains oxygen and nutrients from the mother through placental microcirculation. The placenta is a distinctive organ that develops and differentiates per se, and that organizes fetal growth and maternal condition in the entire course of gestation. Several life-threatening diseases during pregnancy, such as pregnancy-induced hypertension (PIH and eclampsia, are closely associated with placental dysfunction. Genetic susceptibilities and poor placentation have been investigated intensively to understand the pathophysiology of PIH. It is currently thought that “poor placentation hypothesis”, in which extravillous trophoblasts fail to invade sufficiently the placental bed, explains in part maternal predisposition to this disease. Cumulative studies have suggested that hypoxic micromilieu of fetoplacental site, shear stress of uteroplacental blood flow, and aberrantly secreted proinflammatory substances into maternal circulation synergistically contribute to the progression of PIH. For example, soluble form of vascular endothelial growth factor receptor-1 (sVEGFR-1 and soluble form of CD105 are elevated in circulation of PIH mothers. However, it remains to be poorly understood the pathological events in the placenta during the last half of gestation as maternal systemic disorders get worse. For better understanding and effective therapeutic approaches to PIH, it is important to clarify pathological course of PIH-associated changes in the placenta. In this review, current understanding of placental development and the pathophysiology of PIH placenta are summarized. In

  5. Uniparental isodisomy of chromosome 14 in two cases: An abnormal child and a normal adult

    Energy Technology Data Exchange (ETDEWEB)

    Papenhausen, P.R.; Mueller, O.T.; Sutcliffe, M.; Diamond, T.M.; Kousseff, B.G. [Univ. of South Florida College of Medicine, Tampa, FL (United States); Johnson, V.P. [Univ. of South Dakota, Sioux Falls, SD (United States)

    1995-11-20

    Uniparental disomy (UPD) of a number of different chromosomes has been found in association with abnormal phenotypes. A growing body of evidence for an imprinting effect involving chromosome 14 has been accumulating. We report on a case of paternal UPD of chromosome 14 studied in late gestation due to polyhydramnios and a ventral wall hernia. A prenatal karyotype documented a balanced Robertsonian 14:14 translocation. The baby was born prematurely with hairy forehead, retrognathia, mild puckering of the lips and finger contractures. Hypotonia has persisted since birth and at age one year, a tracheostomy for laryngomalacia and gastrostomy for feeding remain necessary. Absence of maternal VNTR polymorphisms and homozygosity of paternal polymorphisms using chromosome 14 specific probes at D14S22 and D14S13 loci indicated paternal uniparental isodisomy (pUPID). Parental chromosomes were normal. We also report on a case of maternal LTPD in a normal patient with a balanced Robertsonian 14:14 translocation and a history of multiple miscarriages. Five previous reports of chromosome 14 UPD suggest that an adverse developmental effect may be more severe whenever the UPD is paternal in origin. This is the second reported patient with paternal UPD and the fifth reported with maternal UPD, and only few phenotypic similarities are apparent. Examination of these chromosome 14 UPD cases of maternal and paternal origin suggests that there are syndromic imprinting effects. 30 refs., 3 figs.

  6. Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood

    Directory of Open Access Journals (Sweden)

    Amy L. Shackelford

    2013-01-01

    Full Text Available We present a rare case of mosaicism for a structural abnormality of chromosome 12 in a patient with phenotypic features of Pallister-Killian syndrome. A six-month-old child with dysmorphic features, exotropia, hypotonia, and developmental delay was mosaic for both a normal karyotype and a cell line with 12p duplication/triplication in 25 percent of metaphase cells. Utilization of fluorescence in situ hybridization (FISH identified three copies of probes from the end of the short arm of chromosome 12 (TEL(12p13 locus and the subtelomere (12p terminal on the structurally abnormal chromosome 12. Genome-wide SNP array analysis revealed that the regions of duplication and triplication were of maternal origin. The abnormal cell line in our patient was present at 25 percent at six months and 19 months of age in both metaphase and interphase cells from peripheral blood, where typically the isochromosome 12p is absent in the newborn. This may suggest that the gene(s resulting in a growth disadvantage of abnormal cells in peripheral blood of patients with tetrasomy 12p may not have the same influence when present in only three copies.

  7. Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan

    Directory of Open Access Journals (Sweden)

    Thomas George H

    2006-01-01

    Full Text Available Abstract Background A variety of diseases are caused by chromosomal abnormalities such as aneuploidies (having an abnormal number of chromosomes, microdeletions, microduplications, and uniparental disomy. High density single nucleotide polymorphism (SNP microarrays provide information on chromosomal copy number changes, as well as genotype (heterozygosity and homozygosity. SNP array studies generate multiple types of data for each SNP site, some with more than 100,000 SNPs represented on each array. The identification of different classes of anomalies within SNP data has been challenging. Results We have developed SNPscan, a web-accessible tool to analyze and visualize high density SNP data. It enables researchers (1 to visually and quantitatively assess the quality of user-generated SNP data relative to a benchmark data set derived from a control population, (2 to display SNP intensity and allelic call data in order to detect chromosomal copy number anomalies (duplications and deletions, (3 to display uniparental isodisomy based on loss of heterozygosity (LOH across genomic regions, (4 to compare paired samples (e.g. tumor and normal, and (5 to generate a file type for viewing SNP data in the University of California, Santa Cruz (UCSC Human Genome Browser. SNPscan accepts data exported from Affymetrix Copy Number Analysis Tool as its input. We validated SNPscan using data generated from patients with known deletions, duplications, and uniparental disomy. We also inspected previously generated SNP data from 90 apparently normal individuals from the Centre d'Étude du Polymorphisme Humain (CEPH collection, and identified three cases of uniparental isodisomy, four females having an apparently mosaic X chromosome, two mislabelled SNP data sets, and one microdeletion on chromosome 2 with mosaicism from an apparently normal female. These previously unrecognized abnormalities were all detected using SNPscan. The microdeletion was independently

  8. What parents say about disclosing the end of their pregnancy due to fetal abnormality

    NARCIS (Netherlands)

    France, E.F.; Hunt, K.; Ziebland, S.; Wyke, S.

    2013-01-01

    OBJECTIVE: to describe men's and women's experiences of deciding whether to tell people in their social network, including their children, about their pregnancy loss following a termination for fetal abnormality. DESIGN: secondary analysis of qualitative narrative interview data informed by a critic

  9. Termination of pregnancy for fetal abnormality: a meta-ethnography of women's experiences.

    Science.gov (United States)

    Lafarge, Caroline; Mitchell, Kathryn; Fox, Pauline

    2014-11-01

    Due to technological advances in antenatal diagnosis of fetal abnormalities, more women face the prospect of terminating pregnancies on these grounds. Much existing research focuses on women's psychological adaptation to this event. However, there is a lack of holistic understanding of women's experiences. This article reports a systematic review of qualitative studies into women's experiences of pregnancy termination for fetal abnormality. Eight databases were searched up to April 2014 for peer-reviewed studies, written in English, that reported primary or secondary data, used identifiable and interpretative qualitative methods, and offered a valuable contribution to the synthesis. Altogether, 4,281 records were screened; 14 met the inclusion criteria. The data were synthesised using meta-ethnography. Four themes were identified: a shattered world, losing and regaining control, the role of health professionals and the power of cultures. Pregnancy termination for fetal abnormality can be considered as a traumatic event that women experience as individuals, in their contact with the health professional community, and in the context of their politico-socio-legal environment. The range of emotions and experiences that pregnancy termination for fetal abnormality generates goes beyond the abortion paradigm and encompasses a bereavement model. Coordinated care pathways are needed that enable women to make their own decisions and receive supportive care.

  10. Possible association between different congenital abnormalities and use of different sulfonamides during pregnancy.

    Science.gov (United States)

    Czeizel, Andrew E; Puhó, Erzsébet; Sørensen, Henrik T; Olsen, Jørn

    2004-06-01

    The objective of the study presented here was to check the debated human teratogenic potential of sulfonamide drugs. Five different sulfonamides such as sulfamethazine, sulfathiourea, sulfamethoxypyridazine, sulfamethoxydiazine and the combination of sulfamethazine-sulfathiourea-sulfamethoxypyridazine were differentiated. Cases with congenital abnormalities were compared with their matched controls without congenital abnormalities in the population-based large data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities between 1980 and 1996. Of 38,151 newborn infants without any congenital abnormalities (control group), 163 (0.4%) had mothers who were treated with the sulfonamides studied during pregnancy, while of 22,843 cases with congenital abnormalities, 140 (0.6%) had mothers who were treated with the sulfonamides studied during pregnancy. The analysis of cases and matched controls indicated a higher rate of cardiovascular malformation (adjusted prevalence odds ratios [POR] with 95% CI: 3.5, 1.9-6.4) and clubfoot (adjusted POR with 95% CI: 2.6, 1.1-6.2) in infants born to mothers with sulfonamide treatment in the second and third months of pregnancy. The detailed analysis of different sulfonamides showed a possible association between cardiovascular malformations (adjusted POR with 95%; CI: 6.5, 2.6-15.9), particularly ventricular septal defect (17.1, 1.3-141.1) and sulfamethoxydiazine during the second and third months of pregnancy. In addition, a possible association was found between clubfoot and sulfathiourea, both during the entire pregnancy (adjusted POR with 95% CI: 2.3, 1.2-4.3) and in the second and third months of gestation (3.9, 1.1-13.8). Thus, maternal treatment of sulfamethoxydiazine may cause ventricular septal defect, while sulfathiourea may induce clubfoot; however, further studies are needed to verify or reject these associations.

  11. Chromosome Abnormalities

    Science.gov (United States)

    ... are two kinds of cell division, mitosis and meiosis. Mitosis results in two cells that are duplicates ... make up our body are made and replaced. Meiosis results in cells with half the number of ...

  12. Placental abnormalities in equine pregnancies generated by SCNT from one donor horse.

    Science.gov (United States)

    Pozor, Malgorzata A; Sheppard, Barbara; Hinrichs, Katrin; Kelleman, Audrey A; Macpherson, Margo L; Runcan, Erin; Choi, Young-Ho; Diaw, Mouhamadou; Mathews, Philip M

    2016-10-01

    Placental changes associated with SCNT have been described in several species, but little information is available in this area in the horse. We evaluated the ultrasonographic, gross, and histopathological characteristics of placentas from three successful and five unsuccessful equine SCNT pregnancies, established using cells from a single donor horse. Starting at approximately 6-month gestation, the pregnancies were monitored periodically using transrectal (TR) and transabdominal (TA) ultrasonography (US) to examine the placentas, fetal fluids, and fetuses. Of the five mares that aborted, one mare did so suddenly without any abnormal signs detected by US and four had enlarged umbilical vessels visible on TA-US before abortion. Placental edema (TR-US) and intravascular thrombi in the umbilical cords were seen (TA-US) in two of these four mares; one mare aborted shortly after acute placental separation was identified on TA-US. In three mares that delivered live foals, TA-US showed engorged allantoic vessels and enlarged umbilical vessels. Two of these mares had placental thickening visible on TR-US, interpreted as a sign of placentitis, that subsided after aggressive medical treatment. Seven of the eight placentas were submitted for gross and histopathological examinations after delivery. All placentas had some degree of edema, abnormally engorged allantoic vessels, and enlarged umbilical vessels. Placentitis, large allantoic vesicles, cystic pouches in the fetal part of the cord, and hemorrhages and thrombi in the umbilical vessels were detected only in placentas from mares that aborted. Equine pregnancies resulting from SCNT may be associated with placental pathologies that can be detected using ultrasonography. However, interpreting their severity is difficult. Although placental abnormalities have been observed in SCNT pregnancies in other species, to the best of our knowledge, placentitis has not been previously reported and may be an important complication of

  13. Transmission of clonal chromosomal abnormalities in human hematopoietic stem and progenitor cells surviving radiation exposure

    International Nuclear Information System (INIS)

    Highlights: • Radiation induced formation and transmission of chromosomal aberrations were assessed. • Cytogenetic analysis was performed in human CD34+ HSPC by mFISH. • We report transmission of stable aberrations in irradiated, clonally expanded HSPC. • Unstable aberrations in clonally expanded HSPC occur independently of irradiation. • Carbon ions and X-rays bear a similar risk for propagation of cytogenetic changes. - Abstract: In radiation-induced acute myeloid leukemia (rAML), clonal chromosomal abnormalities are often observed in bone marrow cells of patients, suggesting that their formation is crucial in the development of the disease. Since rAML is considered to originate from hematopoietic stem and progenitor cells (HSPC), we investigated the frequency and spectrum of radiation-induced chromosomal abnormalities in human CD34+ cells. We then measured stable chromosomal abnormalities, a possible biomarker of leukemia risk, in clonally expanded cell populations which were grown for 14 days in a 3D-matrix (CFU-assay). We compared two radiation qualities used in radiotherapy, sparsely ionizing X-rays and densely ionizing carbon ions (29 and 60–85 keV/μm, doses between 0.5 and 4 Gy). Only a negligible number of de novo arising, unstable aberrations (≤0.05 aberrations/cell, 97% breaks) were measured in the descendants of irradiated HSPC. However, stable aberrations were detected in colonies formed by irradiated HSPC. All cells of the affected colonies exhibited one or more identical aberrations, indicating their clonal origin. The majority of the clonal rearrangements (92%) were simple exchanges such as translocations (77%) and pericentric inversions (15%), which are known to contribute to the development of rAML. Carbon ions were more efficient in inducing cell killing (maximum of ∼30–35% apoptotic cells for 2 Gy carbon ions compared to ∼25% for X-rays) and chromosomal aberrations in the first cell-cycle after exposure (∼70% and ∼40

  14. Transmission of clonal chromosomal abnormalities in human hematopoietic stem and progenitor cells surviving radiation exposure

    Energy Technology Data Exchange (ETDEWEB)

    Kraft, Daniela, E-mail: d.kraft@gsi.de [GSI Helmholtz Center for Heavy Ion Research, Department of Biophysics, Planckstr. 1, 64291 Darmstadt (Germany); Institute for Transfusion Medicine und Immunohematology, DRK-Blutspendedienst Baden-Wuerttemberg—Hessen, Johann Wolfgang Goethe-University Hospital, Sandhofstrasse 1, 60528 Frankfurt (Germany); Ritter, Sylvia, E-mail: s.ritter@gsi.de [GSI Helmholtz Center for Heavy Ion Research, Department of Biophysics, Planckstr. 1, 64291 Darmstadt (Germany); Durante, Marco, E-mail: m.durante@gsi.de [GSI Helmholtz Center for Heavy Ion Research, Department of Biophysics, Planckstr. 1, 64291 Darmstadt (Germany); Institute for Condensed Matter Physics, Physics Department, Technical University Darmstadt, Hochschulstraße 6-8, 64289 Darmstadt (Germany); Seifried, Erhard, E-mail: e.seifried@blutspende.de [Institute for Transfusion Medicine und Immunohematology, DRK-Blutspendedienst Baden-Wuerttemberg—Hessen, Johann Wolfgang Goethe-University Hospital, Sandhofstrasse 1, 60528 Frankfurt (Germany); Fournier, Claudia, E-mail: c.fournier@gsi.de [GSI Helmholtz Center for Heavy Ion Research, Department of Biophysics, Planckstr. 1, 64291 Darmstadt (Germany); Tonn, Torsten, E-mail: t.tonn@blutspende.de [Institute for Transfusion Medicine und Immunohematology, DRK-Blutspendedienst Baden-Wuerttemberg—Hessen, Johann Wolfgang Goethe-University Hospital, Sandhofstrasse 1, 60528 Frankfurt (Germany); Technische Universität Dresden, Med. Fakultät Carl Gustav Carus, Institute for Transfusion Medicine Dresden, German Red Cross Blood Donation Service North-East, Blasewitzer Straße 68/70, 01307 Dresden (Germany)

    2015-07-15

    Highlights: • Radiation induced formation and transmission of chromosomal aberrations were assessed. • Cytogenetic analysis was performed in human CD34+ HSPC by mFISH. • We report transmission of stable aberrations in irradiated, clonally expanded HSPC. • Unstable aberrations in clonally expanded HSPC occur independently of irradiation. • Carbon ions and X-rays bear a similar risk for propagation of cytogenetic changes. - Abstract: In radiation-induced acute myeloid leukemia (rAML), clonal chromosomal abnormalities are often observed in bone marrow cells of patients, suggesting that their formation is crucial in the development of the disease. Since rAML is considered to originate from hematopoietic stem and progenitor cells (HSPC), we investigated the frequency and spectrum of radiation-induced chromosomal abnormalities in human CD34{sup +} cells. We then measured stable chromosomal abnormalities, a possible biomarker of leukemia risk, in clonally expanded cell populations which were grown for 14 days in a 3D-matrix (CFU-assay). We compared two radiation qualities used in radiotherapy, sparsely ionizing X-rays and densely ionizing carbon ions (29 and 60–85 keV/μm, doses between 0.5 and 4 Gy). Only a negligible number of de novo arising, unstable aberrations (≤0.05 aberrations/cell, 97% breaks) were measured in the descendants of irradiated HSPC. However, stable aberrations were detected in colonies formed by irradiated HSPC. All cells of the affected colonies exhibited one or more identical aberrations, indicating their clonal origin. The majority of the clonal rearrangements (92%) were simple exchanges such as translocations (77%) and pericentric inversions (15%), which are known to contribute to the development of rAML. Carbon ions were more efficient in inducing cell killing (maximum of ∼30–35% apoptotic cells for 2 Gy carbon ions compared to ∼25% for X-rays) and chromosomal aberrations in the first cell-cycle after exposure (∼70% and

  15. The effect of maternal exercise during pregnancy on abnormal fetal growth

    OpenAIRE

    Tomić, Vlatka; Sporiš, Goran; Tomić, Jozo; Milanović, Zoran; Zigmundovac-Klaić, Djurdja; Pantelić, Saša

    2013-01-01

    Aim To assess the effect of maternal physical activity during pregnancy on abnormal fetal growth. Methods The study group of 166 women in gestational week 6-8 exercised regularly three days per week at submaximal intensity during their entire pregnancy and the control group of 168 women received standard antenatal care. The main outcomes were macrosomia and intrauterine growth restriction. Results The study group had a lower frequency of macrosomia in newborns (6.0% vs 12.5%, P = 0.048) and g...

  16. Clinical significance of chromosome karyotyping of couple in women with pregnancy loss%妊娠丢失夫妇染色体核型分析的临床意义

    Institute of Scientific and Technical Information of China (English)

    侯兴华; 王君; 王亚君

    2014-01-01

    目的 探讨染色体异常与妊娠丢失的关系.方法 收集260对妊娠丢失夫妇的临床资料,采用传统的细胞遗传学方法进行外周血淋巴细胞培养和染色体核型分析.结果 48例标本染色体异常,发生率为18.5%(48/260),包括28例(58.3%)结构异常、18例(37.5%)多态性改变、2例(4.2%)数目异常.染色体结构异常主要是平衡易位(71.4%,20/28).偶发性与复发性妊娠丢失(RPL)夫妇之间的染色体异常发生率差异无统计学意义(P>0.05).结论 染色体异常可导致妊娠丢失,平衡易位是其主要原因,夫妇双方孕前进行染色体检查有助于优生指导.%Objective To evaluate the correlation between parental chromosomal abnormalities and pregnancy loss.Methods Clinical data were collected from 260 couples who experienced pregnancy loss in the outpatient of our hospital.Chromosomes from cultured peripheral blood lymphocytes were analyzed using conventional cytogenetic analysis.Results Parental chromosomal abnormality was detected in 48 cases (18.5%),which were structural abnormality (28 cases,58.3%),chromosome polymorphism (18 cases,37.5%)and numeric abnormality (2 cases,4.2%).Most of the structural abnormalities were balanced chromosomal translocations (71.4%,20/28).There was no significant difference in positive rate of chromosomal abnormality between sporadic and recurrent pregnancy loss (P > 0.05).Conclusion Pregnancy loss can be caused by chromosomal abnormalities in couples,most of which are balanced translocations.It is very necessary for the clinicians to provide chromosome examination for the couples who experienced pregnancy loss in order to obtain a better pregnancy outcome.

  17. Evidence of increased chromosomal abnormalities in French Polynesian thyroid cancer patients

    Energy Technology Data Exchange (ETDEWEB)

    Violot, D.; M' kacher, R.; Dossou, J. [UPRES, Laboratory of Radiosensitivity and Radiocarcinogenesis (France); Adjadj, E.; Vathaire, F. de [INSERM, Laboratory of Cancer Epidemiology (France); Parmentier, C. [UPRES, Laboratory of Radiosensitivity and Radiocarcinogenesis (France); Institut Gustave Roussy, Department of Nuclear Medicine, Villejuif (France)

    2005-02-01

    The aim of this study was to evaluate the frequency of chromosomal abnormalities in thyroid cancer patients before and after radioactive iodine administration in order to assess cytogenetic particularity in Polynesian thyroid cancer patients. Chromosomal abnormalities were studied in 30 Polynesian patients with differentiated thyroid cancer, prior to and 4 days after{sup 131}I administration. Unstable chromosomal abnormalities were counted in peripheral blood lymphocytes using a conventional cytogenetic method. Peripheral blood was irradiated in vitro at different doses (0.5, 1 and 2 Gy) in order to establish the dose-response of the lymphocytes. Control groups were composed of 50 European thyroid cancer patients before and after first administration of{sup 131}I, and of ten European healthy donors. In addition, in vitro irradiation assays were performed at different doses (0.5, 1 and 2 Gy). The relative risk of spontaneous dicentrics before any radiation treatment was 2.9 (95% CI 1.7-5.1) times higher among Polynesian thyroid patients than among European thyroid cancer patients. After in vitro irradiation, the rise in frequency of dicentrics was similar in the Polynesian thyroid cancer group and the European thyroid patients and healthy donors. Four days after administration of 3.7 GBq{sup 131}I, the relative risk for a dicentric per cell was 1.3 (95% CI 1.0-1.5) times higher in Polynesian than in European patients. This can be explained by higher{sup 131}I retention in Polynesian compared with European patients. The results obtained revealed an increased frequency of cytogenetic abnormalities in Polynesian thyroid cancer patients compared with European control patients. These preliminary findings are compatible with possible previous environmental aggression and therefore imply a need for further investigations on larger series including, in particular, French Polynesian healthy donors. In addition to French Polynesians, Maori and Hawaiian control groups could be

  18. Inflammatory Cytokines in Maternal Circulation and Placenta of Chromosomally Abnormal First Trimester Miscarriages

    Directory of Open Access Journals (Sweden)

    Jean Calleja-Agius

    2012-01-01

    Full Text Available The impact of abnormal placental karyotype on the inflammatory response within the villous tissue and peripheral circulation of women with miscarriage was evaluated. Villous (=38 and venous blood samples (=26 were obtained from women with missed miscarriage. Tissue chromosome analysis indicated 23 abnormal and 15 normal karyotypes. Concentration of tumour necrosis factor alpha (TNF, TNF-R1 and TNF-R2, and interleukin (IL-10 were measured using flowcytometric bead array in fresh villous homogenate, cultured villous extracts, culture medium, maternal whole blood, and plasma. Plasma TNF/IL-10 ratios were significantly (<0.05 lower in miscarriages with abnormal karyotype. In the abnormal karyotype group, there were significantly higher levels of TNF (<0.01, IL-10 (<0.01, TNF-R1 (<0.001, and TNF-R2 (<0.001 in the villous extracts and culture-conditioned medium compared to normal karyotype group. In miscarriage with abnormal karyotype, there is an exacerbated placental inflammatory response, in contrast to miscarriage of normal karyotype where maternal systemic response is increased.

  19. Chromosome aberrations, micronucleus and sperm head abnormalities in mice treated with natamycin, [corrected] a food preservative.

    Science.gov (United States)

    Rasgele, Pinar Goc; Kaymak, Fisun

    2010-03-01

    Natamycin [corrected] is used as preservative in foods. The genotoxic effects of the food preservative natamycin [corrected] were evaluated using chromosome aberrations and micronucleus test in bone marrow cells and sperm head abnormality assays in mice. Blood samples were taken from mice and levels of total testosterone in serum were also determined. Natamycin [corrected] was intraperitoneally (ip) injected at 200, 400 and 800 mg/kg. Natamycin [corrected] did not induce chromosome aberrations but significantly increased the number of micronucleated polychromatic erythrocytes in bone marrow and sperm head abnormalities at all concentrations and treatment periods. It also decreased MI at all concentrations for 6, 12 and 24h treatment periods. Natamycin [corrected] decreased PCE/NCE ratio at all concentrations for 48h in female mice, for 24 and 48h treatment periods in male mice. At the 800 mg/kg concentration, natamycin [corrected] decreased PCE/NCE ratio for 24 and 72h in female mice. A dose dependent increase was observed in the percentage of sperm head abnormalities. The levels of serum testosterone decreased dose-dependently. The obtained results indicate that natamycin [corrected] is not clastogenic, but it is aneugenic in mice bone marrow and it is a potential germ cell mutagen in sperm cells.

  20. Fetal chromosome analysis: screening for chromosome disease?

    DEFF Research Database (Denmark)

    Philip, J; Tabor, Ann; Bang, J;

    1983-01-01

    The aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocentesis performed, this group constituting a consecutive sample at the chromosome laboratory, Rigshospitalet, Copenhagen from March 1973 to September 1980 (Group...... A + B). Pregnant women 35 years of age, women who previously had a chromosomally abnormal child, families with translocation carriers or other heritable chromosomal disease, families where the father was 50 years or more and women in families with a history of Down's syndrome (group A), were compared...... to women having amniocentesis, although considered not to have any increased risk of fetal chromosome abnormality (1390 pregnancies, group B). They were also compared with 750 consecutive pregnancies in women 25-34 years of age, in whom all heritable diseases were excluded (group C). The risk of unbalanced...

  1. Differential transferrin expression in placentae from normal and abnormal pregnancies: a pilot study

    Directory of Open Access Journals (Sweden)

    Bukovsky Antonin

    2008-07-01

    Full Text Available Abstract Background The placenta is an important site for iron metabolism in humans. It transfers iron from the mother to the fetus. One of the major iron transport proteins is transferrin, which is a blood plasma protein crucial for iron uptake. Its localization and expression may be one of the markers to distinguish placental dysfunction. Methods In the experimental study we used antibody preparation, mass spectrometric analysis, biochemical and immunocytochemical methods for characterization of transferrin expression on the human choriocarcinoma cell line JAR (JAR cells, placental lysates, and cryostat sections. Newly designed monoclonal antibody TRO-tf-01 to human transferrin was applied on human placentae from normal (n = 3 and abnormal (n = 9 pregnancies. Results Variations of transferrin expression were detected in villous syncytiotrophoblast, which is in direct contact with maternal blood. In placentae from normal pregnancies, the expression of transferrin in the syncytium was significantly lower (p Conclusion These observations suggest that in the case of abnormal pregnancies, the fetus may require higher levels of transferrin in order to prevent iron depletion due to the stress from the placental dysfunction.

  2. Down's/Turner's mosaicism. Double aneuploidy as a rare cause of missed prenatal diagnosis of chromosomal abnormality.

    OpenAIRE

    MacFaul, R; Turner, T.; Mason, M. K.

    1981-01-01

    Two babies with Down's/Turner's mosaic karyotype are reported. In each, because of advanced maternal age, chromosomal analysis had been carried out on the fluid obtained by amniocentesis in early pregnancy. Only the 46,X+ 21 cell line grew in the specimens and the extra 21 chromosome was wrongly identified as a Y chromosome, so that the fetus was thought to have a normal male karyotype, 46,XY. At birth both babies were phenotypically female with features predominantly of Down's syndrome and t...

  3. Chromosome 12p abnormalities and IMP3 expression in prepubertal pure testicular teratomas.

    Science.gov (United States)

    Cornejo, Kristine M; Cheng, Liang; Church, Alanna; Wang, Mingsheng; Jiang, Zhong

    2016-03-01

    Although the histologic appearance of pure testicular teratomas (PTTs) is similar in children and adults, the prognosis is dramatically different. Prepubertal PTTs are rare, with a benign clinical course, whereas the adult cases typically have malignant outcomes. Chromosome 12p abnormalities are seen in most adult testicular germ cell tumors but have not been found in prepubertal PTTs. IMP3 is an oncofetal protein that is highly expressed in many malignancies. Recently, we demonstrated IMP3 is expressed in adult mature testicular teratomas but not in mature ovarian teratomas. The aim of this study was to evaluate prepubertal PTTs for chromosome 12p abnormalities and expression of IMP3. A total of 11 cases (excision, n=1; orchiectomy, n=10) were obtained from the surgical pathology archives of 2 large medical centers (1957-2013). All 11 cases were investigated for isochromosome 12p and 12p copy number gain using interphase fluorescence in situ hybridization analysis and were examined by immunohistochemistry for IMP3 expression. Patients ranged in age from 0.9 to 7.0 (mean, 2.4) years. A positive immunohistochemical stain for IMP3 (cytoplasmic staining) was identified in 5 (46%) of 11 cases. Isochromosome 12p was detected in 2 cases (18%) that also expressed IMP3. Somatic copy number alterations of 12p were not observed (0%). We are the first to describe 12p abnormalities and IMP3 expression in prepubertal PTTs. Our data demonstrate a small subset of PTTs harbor typical molecular alterations observed in adult testicular germ cell tumors. Although prepubertal PTTs are considered to be benign neoplasms, it may be a heterogeneous group. PMID:26826410

  4. Effect of intravaginal clindamycin cream on pregnancy outcome and on abnormal vaginal microbial flora of pregnant women.

    OpenAIRE

    Rosenstein, Isobel J.; D. John Morgan; Lamont, Ronald F.; Marie Sheehan; Doré, Caroline J; Hay, Phillip E; David Taylor-Robinson

    2000-01-01

    Objectives: To determine whether intravaginal clindamycin cream reduces the incidence of abnormal pregnancy outcome in women with abnormal vaginal microbial flora graded as intermediate or BV and to investigate the effect of the antibiotic on vaginal microbial flora.Methods: A prospective cohort study of pregnant women in an antenatal clinic of a district general hospital. The subjects were 268 women who had abnormal vaginal microbial flora at first clinic visit by examination of a Gram-stain...

  5. Analysis of clinical outcomes for prenatal diagnosis of occurrence of chromosomal abnormalities for new babies%产前诊断中胎儿新发生染色体异常的临床结局分析

    Institute of Scientific and Technical Information of China (English)

    郭化山; 陈曼萍; 吴来春

    2012-01-01

    OBJECTIVE To analyze the clinical outcomes for prenatal diagnosis of occurrence of chromosomal abnormalities for new babies. METHODS 6 cases of chromosomal abnormalities were found in the 1 346 cases of prenatal diagnosis of chromosomal karyotype from January 2007 to December 2009. Observed the cytogenetic result of fetal chromosomal abnormalities, prenatal ultrasound findings and pregnancy outcome were taken for analysis in the 6 new cases. RESULTS There were 4 cases with unbalanced sex chromosome abnormalities, accounting for 66.7%. There were 2 cases of balanced chromosomal abnormalities, accounting for 33.3%. There were 2 cases of terminal pregnancy through induced abortion in the 4 cases of unbalanced chromosome abnormalities, among whom 1 case of term delivery, 1 case of losing follow-up, the former was found with delayed development in language. 2 cases of balanced chromosomal abnormalities had term delivery, in follow-up after birth, there were no abnormalities. CONCLUSION The fetal phenotype of new chromosomal abnormalities can be predicted by analysis of detailed karyorype and further molecular cytogenetic detection of chromosome composition provided by the structural abnormalities. The prenatal ultrasound examination can provide a strong reference basis for the assessment of pregnancy outcomes.%目的 分析产前诊断中胎儿新发生染色体异常的临床结局.方法 对某院1997年1月-2009年12月1346例产前诊断细胞染色体核型分析发现的6例新发生的胎儿染色体异常病例进行分析,观察6例新发生的胎儿染色体异常病例的细胞遗传学检测结果、产前超声检查结果及妊娠结局.结果 6例新发生染色体异常的胎儿中,非平衡性染色体异常4例,占66.7%:2例平衡性染色体异常,占33.3%;4例非平衡染色体异常的胎儿中有2例选择引产终止妊娠,有1例足月分娩,1例出生后失访.足月分娩者随访至2周岁发现语言功能发育迟缓.2例平衡性染

  6. Abnormal X : autosome ratio, but normal X chromosome inactivation in human triploid cultures

    Directory of Open Access Journals (Sweden)

    Norwood Thomas H

    2006-07-01

    Full Text Available Abstract Background X chromosome inactivation (XCI is that aspect of mammalian dosage compensation that brings about equivalence of X-linked gene expression between females and males by inactivating one of the two X chromosomes (Xi in normal female cells, leaving them with a single active X (Xa as in male cells. In cells with more than two X's, but a diploid autosomal complement, all X's but one, Xa, are inactivated. This phenomenon is commonly thought to suggest 1 that normal development requires a ratio of one Xa per diploid autosomal set, and 2 that an early event in XCI is the marking of one X to be active, with remaining X's becoming inactivated by default. Results Triploids provide a test of these ideas because the ratio of one Xa per diploid autosomal set cannot be achieved, yet this abnormal ratio should not necessarily affect the one-Xa choice mechanism for XCI. Previous studies of XCI patterns in murine triploids support the single-Xa model, but human triploids mostly have two-Xa cells, whether they are XXX or XXY. The XCI patterns we observe in fibroblast cultures from different XXX human triploids suggest that the two-Xa pattern of XCI is selected for, and may have resulted from rare segregation errors or Xi reactivation. Conclusion The initial X inactivation pattern in human triploids, therefore, is likely to resemble the pattern that predominates in murine triploids, i.e., a single Xa, with the remaining X's inactive. Furthermore, our studies of XIST RNA accumulation and promoter methylation suggest that the basic features of XCI are normal in triploids despite the abnormal X:autosome ratio.

  7. A dominantly acting murine allele of Mcm4 causes chromosomal abnormalities and promotes tumorigenesis.

    Directory of Open Access Journals (Sweden)

    Bruce N Bagley

    Full Text Available Here we report the isolation of a murine model for heritable T cell lymphoblastic leukemia/lymphoma (T-ALL called Spontaneous dominant leukemia (Sdl. Sdl heterozygous mice develop disease with a short latency and high penetrance, while mice homozygous for the mutation die early during embryonic development. Sdl mice exhibit an increase in the frequency of micronucleated reticulocytes, and T-ALLs from Sdl mice harbor small amplifications and deletions, including activating deletions at the Notch1 locus. Using exome sequencing it was determined that Sdl mice harbor a spontaneously acquired mutation in Mcm4 (Mcm4(D573H. MCM4 is part of the heterohexameric complex of MCM2-7 that is important for licensing of DNA origins prior to S phase and also serves as the core of the replicative helicase that unwinds DNA at replication forks. Previous studies in murine models have discovered that genetic reductions of MCM complex levels promote tumor formation by causing genomic instability. However, Sdl mice possess normal levels of Mcms, and there is no evidence for loss-of-heterozygosity at the Mcm4 locus in Sdl leukemias. Studies in Saccharomyces cerevisiae indicate that the Sdl mutation produces a biologically inactive helicase. Together, these data support a model in which chromosomal abnormalities in Sdl mice result from the ability of MCM4(D573H to incorporate into MCM complexes and render them inactive. Our studies indicate that dominantly acting alleles of MCMs can be compatible with viability but have dramatic oncogenic consequences by causing chromosomal abnormalities.

  8. Balanced Chromosomal Rearrangement in Recurrent Spontaneous Abortions: A Case Report

    OpenAIRE

    Zarifian, Ahmadreza; Farhoodi, Zeinab; Amel, Roya; Mirzaee, Salmeh; Hassanzadeh-Nazarabadi, Mohammad

    2012-01-01

    One of the major causes of spontaneous abortion before the fourth month of pregnancy is chromosomal abnormalities. We report an unusual case of a familial balanced chromosomal translocation in a consanguineous couple who experienced 4 spontaneous abortions. Chromosomal studies were performed on the basis of G-banding technique at high resolution and revealed 46, XX, t (16; 6) (p12; q26) and 46, XY, t (16; 6) (p12; q26) in both partners, which induced such pregnancy complications. Chromosomal ...

  9. Prevalence of chromosomal abnormalities and timing of karyotype analysis in patients with recurrent implantation failure (RIF) following assisted reproduction

    OpenAIRE

    De Sutter, P.; Stadhouders, R.; Dutré, M.; Gerris, J.; Dhont, M.

    2012-01-01

    Aims: To analyze the prevalence and type of karyotype abnormalities in RIF patients and to evaluate the adequate timing for analysis and the presence of possible risk factors. Methods: 615 patients (317 women and 298 men) with RIF, having undergone at least 3 sequential failed IVF/ICSI cycles prior to karyotype analysis, were included in this study. Anomaly rates found were compared with published series. Results: Chromosomal abnormalities were diagnosed in 2.1% of patients (13/615): 8 female...

  10. A chromosomal translocation causing multiple abnormalities including open eyelids at birth and glomerulonephritis.

    Science.gov (United States)

    Guarnieri, Mary H; Cacheiro, Nestor L; Rudofsky, Ulrich H; Montgomery, Jeffry C; Collins, Doris N; Flaherty, Lorraine A

    2002-08-01

    We have characterized the phenotype of a mouse with a t(2;13) reciprocal translocation induced by chlorambucil. It results in abnormal eyelid formation as well as a series of neurological, physiological, and immunological abnormalities. This mutant has been termed T(2;13)1Fla/+. T(2;13)1Fla/+ mice exhibit open eyelids at birth, a dilute coat color, hyperactivity, and occasional circling and stargazing activity. At 1-6 months, T(2;13)1Fla/+ mice show signs of immune complex-mediated glomerulonephritis and die prematurely. Additionally, double-stranded DNA autoantibodies have been found in sera of T(2;13)1Fla/+ mice. Cytogenetic analysis situated the translocation breakpoint at the proximal end of Chromosome (chr) 2 at band A2, and on Chr 13 at band A4. The mutant phenotype completely correlated with the presence of the translocation. Additional genetic studies have mapped the mutation and translocation breakpoint to Chr 13 between D13Mit16 and D13Mit64, and to Chr 2 proximal to D2Mit5. By fluorescent in situ hybridization (FISH), the position of this mutation/translocation on Chr 13 has been mapped to a region less than 1cM from D13Mit61. PMID:12226706

  11. The study of the karyotype analysis results of 358 couples with abnormal pregnancy history%358例不良孕产史夫妇的染色体核型分析

    Institute of Scientific and Technical Information of China (English)

    应香朵; 程启航

    2011-01-01

    目的 探讨具有不良孕产史夫妇的不良孕产史与染色体核型异常的关系.方法 采用外周血淋巴细胞培养技术,对358例具有不良孕产史的夫妇进行常规G显带核型分析.结果 358例不良孕产史夫妇中,共检出异常染色体核型39例,异常率为10.89%.其中随体变异13例,9号染色体臂间倒位9例,副缢痕的增长8例,相互易位7例,数目异常2例.染色体异常在男女发生的比例相当.结论 染色体核型异常是导致不良孕产史的重要原因之一,对不良孕产史夫妇双方进行细胞遗传学检查,提供优生咨询,再孕指导与监测,能够有效防止患儿出生,提高出生人口素质.%Objective: To investigate the relationship of abnormal pregnancy history and karyotype abnormality in 358 couples.Methods: The G - banding Patterns of the Chromosomes in 358 couples with abnormal pregnancy history were studied by Culture of Peripheral Blood Lymphocytes. Results: 39 karyotype abnormalities were detected in 358 couples, abnomal karyotype rate was 10. 89%.Among 39 cases, 13 had chromosome satellile varaiations, 9 had pericentric inversion 9, 8 had extended secondary constriction, 7 had balanced translocations, 2 had abnormal chromosome number. The abnomal karyotype rate was same between men and women.Conclusion: The karyotype abnormality is one of the important reasons of abnormal pregnancy. Cytogenetical study, eugenic advice,pregnancy guide and monitoring for couples with abnormal pregnancy history is useful to population quality.

  12. 胎儿染色体核型异常的临床分析%Clinical analysis of fetal chromosomes karyotype abnormalities

    Institute of Scientific and Technical Information of China (English)

    林晓娟; 孙庆梅; 何晓春; 吴菊; 葛婷婷; 代维斯

    2016-01-01

    Objective To study the indications of prenatal diagnosis of fetal chromosome karyotype abnormalities,and provide the basis for prenatal diagnosis and clinical genetic counseling. Methods From October 2010 to April 2014,a total of 5 655 cases of pregnant women who received prenatal diagnosis of fetal karyotype analysis in Prenatal Diagnosis Center,Gansu Provincial Maternity and Child-care Hospital were selected as research subjects.The indications of prenatal diagnosis of the 5 655 cases of pregnant women contained high-risk indications of antenatal serological screening,such as trisomy 21 syndrome risk≥1/270 or trisomy 18 syndrome risk≥1/350 (2 482 cases),age ≥35 years old (1 889 cases),adverse pregnancy history (675 cases),chromosomal abnormalities of one of the couple (49 cases),prenatal ultrasound abnormalities (465 cases),and exposure to the poisonous and harmful substance,drugs that may cause teratogenicity and radical line (95 cases ).All the indications of prenatal diagnosis were uncrossed.Fetal chromosome karyotype abnormalities were diagnosed by amniocentesis. Different kinds of fetal chromosomes karyotype abnormalities, the number and detection rate,the relationship between fetal chromosome karyotype abnormalities and prenatal ultrasound abnormalities were analyzed by retrospective method.And the fetal chromosomes karyotype abnormalities detection rates of different indications of prenatal diagnosis were analyzed by statistical methods.The study protocol was approved by the Ethical Review Board of Investigation in Gansu Provincial Maternity and Child-care Hospital.Informed consent was obtained from each patient before receiving invasive prenatal diagnosis.Results ①Among the 5 655 cases of pregnant women who received invasive prenatal diagnosis,124 cases were detected as fetal chromosomal karyotype abnormalities,and the detection rate was 2.2%.Among 2 482 cases of pregnant women with high-risk indications,1 889 cases with age ≥ 35 years old,675

  13. Triple test role in identifying chromosomal disorders in the second trimester of pregnancy

    Directory of Open Access Journals (Sweden)

    Artenie Vlad

    2011-06-01

    Full Text Available The triple test plays a very important role in identifying chromosomal disorders, in the prenatal screening of the second pregnancy trimester. The scope of our research resides in investigating the level of human chorionic gonadotropin, alpha-fetoprotein and unconjugated estriol (markers that make-up the triple test, in the serum sampled and analysed from a group of 135 pregnant women. The observation of the above mentioned markers is made in order to identify the pregnancies that present a higher risk for the appearance of chromosomal disorders. We also, decided to associate the values gathered for human chorionic gonadotropin, alpha-fetoprotein and unconjugated estriol, with the maternal age. The interpretation of the data was made using the PRISCA 4.0 software, considering by default the gestational age, smoking, in vitro fertilization, diabetic status, medical history of the mother. We must say that the patients were pregnant in the second trimester, period specific for triple test survey and are not the same patients included in the double test survey. Following the conducted biochemical analyses normal values were obtained, values that fit the ranges specified in the specific literature, but also values that were outside the normal ranges, indentifying in this way pregnancies with high risk for 21 and 18 trisomy.

  14. Gross congenital abnormality associated with an apparently balanced chromosomal translocation t(9;17)(q34;q11)

    OpenAIRE

    Dockery, Heather E; Neale, H C; Fitzgerald, P H

    1982-01-01

    Gross mental and physical abnormality is described in an adult female who had some features similar to those of Ehlers-Danlos syndrome. There was no family history of the disorder. The patient also carried a balanced chromosomal translocation t(9;17)(q34;q11).

  15. Amenorréia e anormalidades do cromossomo X Amenorrhea and X chromosome abnormalities

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano Machado Rosa

    2008-10-01

    Full Text Available OBJETIVO: correlacionar as manifestações clínicas de pacientes com amenorréia e anormalidades do cromossomo X. MÉTODOS: realizou-se uma análise retrospectiva dos achados clínicos e laboratoriais das pacientes com amenorréia e anormalidades do cromossomo X, atendidas entre janeiro de 1975 e novembro de 2007. Suas medidas antropométricas foram avaliadas através de tabelas de crescimento padrão, sendo que, quando presentes, dismorfias menores e maiores foram anotadas. O estudo dos cromossomos foi realizado através do cariótipo com bandamento GTG. RESULTADOS: do total de 141 pacientes com amenorréia, 16% apresentavam anormalidades numéricas e 13% estruturais do cromossomo X. Destas pacientes com anormalidade do X (n=41, 35 possuíam descrição clínica completa. Todas elas apresentavam hipogonadismo hipergonadotrófico. Amenorréia primária foi observada em 24 pacientes, das quais 91,7% com fenótipo de síndrome de Turner. Com exceção de um caso com deleção Xq22-q28, todas as demais pacientes com este fenótipo apresentavam alterações envolvendo Xp (uma com uma linhagem 46,XY associada. Os dois casos restantes com apenas amenorréia primária possuíam deleções proximais de Xq. Entre as 11 pacientes com amenorréia secundária, 54,5% apresentavam fenótipo de Turner (todas com monossomia do X isolada ou em mosaico. Entre aquelas com fenótipo de falência ovariana isolada observaram-se somente deleções Xq e trissomia do X. CONCLUSÕES: a análise cromossômica deve sempre ser realizada em mulheres com falência ovariana de causa não conhecida, mesmo na ausência de achados dismórficos. Esta também é de extrema importância em pacientes sindrômicas, pois, além de confirmar o diagnóstico, é capaz de identificar pacientes em risco, como nos casos com uma linhagem 46,XY.PURPOSE: to correlate the clinical manifestations of patients with amenorrhea and X chromosome abnormalities. METHODS: a retrospective analysis of the

  16. Serial study of the effect of radiotherapy on semen parameters, hamster egg penetration rates, and lymphocyte chromosome abnormalities

    International Nuclear Information System (INIS)

    This study was designed to assess the long-term effects of radiotherapy (RT) on male fertility and the induction of lymphocyte and sperm chromosome abnormalities. This preliminary report provides information on 11 cancer patients (mainly seminomas) treated by RT (testicular dose, 44 to 499 rads). All 11 men were studied pre-RT and at intervals post-RT. The pre-RT semen profile varied considerably, but, in general, the profile was poor with a mean sperm concentration of 19.4 x 106 ml and a mean hamster egg penetration rate of 5%. One month after RT, the sperm concentration decreased and hamster egg penetration was 0% in all men. At 3 and 12 months post-RT, all but two patients were azoospermic. By 24 months post-RT, 9 of 11 patients had regained sperm production and 5 had sperm capable of hamster egg penetration. The three men who have been studied 36 months post-RT had a mean sperm concentration of 45.3 x 106 ml, and all had positive hamster egg penetration tests, although two of the three men had very low penetration rates (2% and 4%). Lymphocyte chromosome analysis demonstrated a striking frequency of chromosome abnormalities post-RT which decreased with time (pre-RT, 0%; 1 month, 42.4%; 3 months, 24.7%; 12 months, 13.8%; 24 months, 11.2%; and 36 months, 10.0%). Thus, it appears that sperm production starts to recover 2 to 3 years after RT when the frequency of lymphocyte chromosome abnormalities has decreased, but the sperm may not be fully functional at this time, as evidenced by poor rates of hamster egg penetration. Future studies of sperm chromosome analysis in these men will determine whether this impairment of the sperm is associated with meiotic chromosome abnormalities

  17. Maternal plasma fetal DNA fractions in pregnancies with low and high risks for fetal chromosomal aneuploidies.

    Directory of Open Access Journals (Sweden)

    Irena Hudecova

    Full Text Available Recently published international guidelines recommend the clinical use of noninvasive prenatal test (NIPT for aneuploidy screening only among pregnant women whose fetuses are deemed at high risk. The applicability of NIPT to aneuploidy screening among average risk pregnancies requires additional supportive evidence. A key determinant of the reliability of aneuploidy NIPT is the fetal DNA fraction in maternal plasma. In this report, we investigated if differences in fetal DNA fractions existed between different pregnancy risk groups. One hundred and ninety-five singleton pregnancies with male fetuses divided into 3 groups according to first trimester screening parameters were examined for fetal DNA percentage by counting Y chromosome DNA sequences using massively parallel sequencing. Fetal DNA fractions were compared between risk groups and assessed for correlations with first trimester screening parameters. There was no statistically significant difference in fetal DNA fractions across the high, intermediate and low risk groups. Fetal DNA fraction showed a strong negative correlation with maternal weight. Fetal DNA fraction also showed weak but significant correlations with gestational age, crown-rump length, multiple of medians of free β-subunit of human chorionic gonadotropin and pregnancy-associated plasma protein A. Similar fetal DNA fractions in maternal plasma between high, intermediate and low risk pregnant women is a precondition for uniform performance of the aneuploidy NIPTs for the general population. This study thus shows that the aneuploidy screening by NIPT is likely to offer similar analytical reliability without respect to the a priori fetal aneuploidy risk.

  18. Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature

    Science.gov (United States)

    Saman Kumara, L. P. C.

    2016-01-01

    A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously reported cases with ring chromosome 4 and those with Wolf-Hirschhorn syndrome (4p-). Clinical features observed in this case are consistent with the consensus phenotype in ring chromosome 4. Patent ductus arteriosus and bilateral talipes equinovarus observed in this baby widen the phenotypic spectrum associated with ring chromosome 4. PMID:27610251

  19. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

    DEFF Research Database (Denmark)

    Wellesley, Diana; Dolk, Helen; Boyd, Patricia A;

    2012-01-01

    anomaly. There were 10 323 cases with a chromosome abnormality, giving a total birth prevalence rate of 43.8/10 000 births. Of these, 7335 cases had trisomy 21,18 or 13, giving individual prevalence rates of 23.0, 5.9 and 2.3/10 000 births, respectively (53, 13 and 5% of all reported chromosome errors......, respectively). In all, 473 cases (5%) had a sex chromosome trisomy, and 778 (8%) had 45,X, giving prevalence rates of 2.0 and 3.3/10 000 births, respectively. There were 1 737 RCA cases (17%), giving a prevalence of 7.4/10 000 births. These included triploidy, other trisomies, marker chromosomes, unbalanced...

  20. Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature.

    Science.gov (United States)

    Paththinige, C S; Sirisena, N D; Kariyawasam, U G I U; Saman Kumara, L P C; Dissanayake, V H W

    2016-01-01

    A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously reported cases with ring chromosome 4 and those with Wolf-Hirschhorn syndrome (4p-). Clinical features observed in this case are consistent with the consensus phenotype in ring chromosome 4. Patent ductus arteriosus and bilateral talipes equinovarus observed in this baby widen the phenotypic spectrum associated with ring chromosome 4. PMID:27610251

  1. Lopinavir/ritonavir dosing during pregnancy in Brazil and maternal/infant laboratory abnormalities

    Directory of Open Access Journals (Sweden)

    Mario Ferreira Peixoto

    2011-06-01

    Full Text Available OBJECTIVES: To describe laboratory abnormalities among HIV-infected women and their infants with standard and increased lopinavir/ritonavir (LPV/r dosing during the third trimester of pregnancy. METHODS: We evaluated data on pregnant women from NISDI cohorts (2002-2009 enrolled in Brazil, who received at least 28 days of LPV/r during the third pregnancy trimester and gave birth to singleton infants. RESULTS: 164 women received LPV/r standard dosing [(798/198 or 800/200 mg/day (Group 1] and 70 increased dosing [(> 800/200 mg/day (Group 2]. Group 1 was more likely to have advanced clinical disease and to use ARVs for treatment, and less likely to have CD4 counts > 500 cells/mm³. Mean plasma viral load was higher in Group 2. There were statistically significant, but not clinically meaningful, differences between groups in mean AST, ALT, cholesterol, and triglycerides. The proportion of women with Grade 3 or 4 adverse events was very low, with no statistically significant differences between groups in severe adverse events related to ALT, AST, total bilirubin, cholesterol, or triglycerides. There were statistically significant, but not clinically meaningful, differences between infant groups in ALT and creatinine. The proportion of infants with Grade 3 or 4 adverse events was very low, and there were no statistically significant differences in severe adverse events related to ALT, AST, BUN, or creatinine. CONCLUSION: The proportions of women and infants with severe laboratory adverse events were very low. Increased LPV/r dosing during the third trimester of pregnancy appears to be safe for HIV-infected women and their infants.

  2. The study of chromosomal abnormalities and heteromorphism in couples with 2 or 3 recurrent abortions in Shahid Beheshti Hospital of Hamedan

    OpenAIRE

    Atefeh Asgari; Safieh Ghahremani; Solmaz Saeedi; Ebrahim Kamrani

    2013-01-01

    Background: Different studies show that chromosomal balance translocation in the parents can cause recurrent spontaneous abortions. Incidence of chromosomal translocation abnormalities in couples with repeated abortions is from 0% to 31%. Objective: The purpose of this research was studying the presence or absence of chromosomal abnormalities and heteromorphism in couples with recurrent abortions and also the role of this anomaly in the abortions. Materials and Methods: This study is a cross ...

  3. Analysis of relationship between patients with chromosomal translocation and the outcome of pregnancy%染色体易位携带者核型分析与妊娠结局的关系

    Institute of Scientific and Technical Information of China (English)

    张磷; 任梅宏; 张晓红; 宋桂宁; 王建六

    2013-01-01

    目的 探讨不同染色体间易位与临床效应的关系,为优生和辅助生殖提供理论指导.方法 收集2005年1月至2011年12月在北京大学人民医院不孕不育和产前诊断中心进行咨询的患者3067例,对其染色体核型及临床资料进行综合分析.结果 72例染色体易位患者中,17例妊娠后检测胎儿染色体易位位点与夫妻一方一致,继续妊娠(17例中70.59%有多次不良孕产史);另40例染色体易位患者有1~5次不良妊娠史,导致不育结局;还有15例染色体易位患者表现为不同程度的生殖器形态或功能障碍,致原发不孕.结论 染色体易位携带者是男女不孕不育的重要因素之一,对其自然受孕或辅助生殖者应行产前诊断,以避免染色体异常患儿出生.%Objective To explore the relationship between chromosome translocation and their phenotypic effect by analyzing the patients with loss pregnancy and avoiding fetuses with chromosomal abnormalities.Methods A total of 3067 cases with infertility or loss pregnancy were recruited to receive chromosome examination during January 2005 to December 2011 at Center of Prenatal Diagnosis,Peking University People's Hospital.Retrospective study was used to analyze the chromosome karyotypes and infertility or loss pregnancy.Results In 72 cases of patients with chromosome translocation,there were 17 pregnancies with homology translocation in fetus.And the numbers of patients with loss pregnancy and sex apparatus malformations were 40 and 15 respectively.Conclusion Chromosome translocation plays an important role in patients with loss pregnancy or infertility.And chromosome examination should be performed to exclude the possibility of chromosome abnormities in patients with obstinate infertility.

  4. Chromosome abnormalities diagnosed in utero: a Japanese study of 28 983 amniotic fluid specimens collected before 22 weeks gestations.

    Science.gov (United States)

    Nishiyama, Miyuki; Yan, Jim; Yotsumoto, Junko; Sawai, Hideaki; Sekizawa, Akihiko; Kamei, Yoshimasa; Sago, Haruhiko

    2015-03-01

    To investigate the frequency and type of abnormal karyotype in Japan by amniocentesis before 22 weeks of gestation. We performed a retrospective analysis of 28 983 amniotic fluid specimens in a local population collected before 22 weeks gestations for fetal karyotyping. The incidence of abnormal karyotype was 6.0%. The main indication was advanced maternal age (AMA) of 35 years and older, which represented over half of the clinical indications. Abnormal karyotype was most frequently reported among the referrals for abnormal ultrasound findings (21.8%), followed by positive maternal serum screen results (5.3%). Three-fourths of abnormal karyotype was either autosomal aneuploidy (64.0%) or sex chromosome aneuploidy (11.6%). Abnormal karyotype was detected in 2.8% of pregnant women referred for AMA. Clinically significant abnormal karyotype increased with advancing maternal age. The frequency and type of abnormal karyotype detected by amniocentesis for various indications were determined. Amniocentesis was mainly performed among the referrals for AMA, which is a characteristic distribution of indications of Japan.

  5. Application of dual color fluorescence in situ hybridization (D—FISH) to the diagnosis of a 49,XXXXY chromosomal abnormality

    Institute of Scientific and Technical Information of China (English)

    LiuYZ; ZengX

    2002-01-01

    Objective:To study the technique of D-FISH and its application in the diagnosis of a 49.XXXXY chromosomal abnormality.Methods:Biotin-labeled alpha satellite X chromosome DNA(pBamX7) probe and digoxi-genin-labeled Y chromosome long arm terminal repetitive sequence (pY3.4) probe in situ hybridized with pre-treated slides of peripheral blood chromosome and interphase nucleus.After washing,the slides were treated with avidin-FITC,rhodamine-FITC and anti-avidin,amplified with an additional layer and counter-stained with DAPI in an antifade solution.The hybridization signals and chromosomal or interphase nucleus settings were observed respectively with WIB,WIG and WU filters under fluorescent microscope (Olympus AX-70) and the number of metaphase chromosome and interphase nucleus in the peripheral blood was counted.Results:The biotin-labeled pBamX7 probe showed 4 green hybridization signal and the digoxigenin-labeled pY3.4 probe showed 1 red hybridization signal.The chromosome or cytoplasm counter-stained with DAPI showed blue.The positive rate of X chromosome hybridization signal for the 350 metaphase chromosomes and interphase nucleus was 91.43% and 92.57%,respectively,while that of the Y chromosome hybridization signal was 99.5% and 99.8%,respectively.Conclusion:D-FISH is a valuable technique in diagnosing 49,XXXXY chromosomal abnormality and other sex chromosomal abnormalities.

  6. Increased likelihood of post-polycythemia vera myelofibrosis in Ph-negative MPN patients with chromosome 12 abnormalities.

    Science.gov (United States)

    Benton, Christopher B; Tanaka, Maria; Wilson, Catherine; Pierce, Sherry; Zhou, Lingsha; Cortes, Jorge; Kantarjian, Hagop; Verstovsek, Srdan

    2015-04-01

    Chromosome 12 (Chr12) abnormalities have been described for individual patients with Philadelphia chromosome-negative myeloproliferative neoplasms (Ph-neg MPN), however the frequency, characteristics, and outcomes of such patients as a whole have not been investigated. We reviewed a database of 1787 consecutive Ph-neg MPN patients seen at our institution and determined that 2% of Ph-neg MPN patients harbored an alteration involving Chr12 by cytogenetic evaluation. Retrospective chart review revealed that patients with Chr12 abnormalities had a higher likelihood of having myelofibrosis (MF) compared to patients without a Chr12 abnormality, and were more likely to have post-polycythemia vera MF. The most common alterations in Chr12 in MF patients involved 12q13, 12q15, 12q24, and trisomy 12, and >40% of Chr12 Ph-neg MPN patients had cytogenetic evolution. Chr12 abnormalities did not significantly correlate with JAK2 status, progression to acute myeloid leukemia, or survival, however patients with 12q24 abnormalities trended toward poorer outcomes.

  7. 不良孕产史孕妇羊水细胞胎儿染色体核型特点%Amniotic cell karyotyping in pregnant women with a history of abnormal pregnancy

    Institute of Scientific and Technical Information of China (English)

    付杰; 马京梅; 于丽; 潘虹; 杨慧霞

    2014-01-01

    目的:探讨有不良孕产史的孕妇行胎儿染色体核型分析的临床意义。方法2005年1月4日至2013年12月31日,共1193例孕妇因不良孕产史在北京大学第一医院行羊膜腔穿刺羊水细胞胎儿染色体核型分析。根据既往不良孕产史病因,将其分为4组,分别是:生育过遗传代谢性疾病或单基因遗传性疾病患儿的孕妇273例(A组),孕育过染色体病患儿的孕妇81例(B组),夫妇一方为染色体异常携带者8例(C组),不良孕产史病因不详的孕妇833例(D组)。回顾分析这些孕妇胎儿染色体异常核型的分布特点。结果共发现胎儿染色体异常48例[4.0%(48/1193)],其中染色体多态性变异26例,染色体结构和数目异常22例,包括4例21-三体、4例性染色体异常、3例18-三体、3例额外小染色体、3例相互易位、1例罗伯逊易位、1例6号染色体臂间倒位、1例3号染色体臂间倒位、1例14-三体嵌合型、1例14号染色体结构异常。A组检出4例(1.5%)有临床意义的胎儿染色体核型异常及4例多态性变异;A组同时检出61例遗传代谢性疾病或单基因遗传性疾病胎儿及2例基因突变携带者,但均未合并染色体核型异常。B组检出2例(2.5%)胎儿染色体核型异常。C组检出2例(2/8)胎儿染色体相互易位,核型均与亲代相同。D组共检出3例21-三体、3例18-三体、2例性染色体异常、2例额外小染色体,均为高龄孕妇;还检出4例染色体结构异常及22例染色体多态性变异,夫妇均行外周血染色体检查,证实胎儿异常核型来自双亲之一。结论应根据不良孕产史的病因,选择合适的产前诊断方法。%Objective To study the clinical significance of chromosome karyotyping in pregnant women with a history of abnormal pregnancy. Methods The fetal chromosome karyotypes of 1 193 pregnant women with a history of abnormal pregnancy in Peking

  8. Prognosis for couples who have experienced repeated pregnancy loss.

    Science.gov (United States)

    Abuelo, D N; Barsel-Bowers, G

    1983-12-01

    To determine whether amniocentesis should be recommended to couples who have had multiple spontaneous abortions, we obtained information on the subsequent pregnancy outcome for 70 couples who had had two or more pregnancy losses. Fifty-two (74%) had one or more successful pregnancies, resulting in 64 newborns, all but 1 of whom were normal; the abnormal infant had a normal chromosome analysis.

  9. 贵州省131例染色体异常者的细胞遗传学分析%Cytogenetical analysis on 131 cases with chromosomal abnormality in Guizhou province

    Institute of Scientific and Technical Information of China (English)

    张宏红; 周从容; 吴小平; 陈蔚清; 鲜义辉; 冯燕梅; 李映雪

    2011-01-01

    目的:对贵州省131例染色体异常者进行细胞遗传学分析,以指导优生优育。方法:对受检者询问病史、体格检查、抽取静脉血进行淋巴细胞培养,中期染色体制片、G显带处理,每例患者镜下计数30个核型,分析核型3个以上,对异常者加大计数和分析量,并按人类细胞遗传学国际命名体制(ISCN,1985)的标准命名。结果:131例异常核型中常染色体数目、结构异常者97例(占74.05%),性染色体数目、结构异常者30例(占22.9%),染色体多态性4例(占3.1%)。结论:染色体异常与不良孕产史、不孕不育、智力低下、性发育异常、原发性闭经等有密切关系。孕前优生遗传咨询,及时了解染色体异常情况,对临床治疗及优生具有极其重要的指导意义。%Objective; To conduct cytogenetical analysis among 131 cases with chromosomal abnormality in Cuizhou province, direct prenatal and postnatal care. Methods: The cases received medical history inquiry, physical examination, culture of lymphocytes in venous blood, metaphase chromosome section and G - banding; 30 karyotypes were counted under microscope respectively, more than 3 karyo-types were analyzed; for the cases with abnormal results, the karyotypes amounts of count and analysis were increased, then naming was carried out according to ISCN (1985) . Results: Among 131 cases with chromosomal abnormality, 97 cases were found with numerical abnormality and structural abnormality of autosome, accounting for 74.05% ; 30 cases were found with numerical abnormality and structural abnormality of sex chromosome, accounting for 22. 9% ; 4 cases were found with chromosomal polymorphism, accounting for 3.1%. Conclusion: Chromosomal abnormality is related to adverse history of pregnancy, infertility, hypophrenia, sexual developmental abnormality and primary amenorrhea closely. Genetic counselling before pregnancy and understanding chromosomal abnormality timely play important

  10. First-trimester maternal serum human thyroid-stimulating hormone in chromosomally normal and Down syndrome pregnancies

    NARCIS (Netherlands)

    Pratt, JJ; de Wolf, BTHM; Mantingh, A

    2001-01-01

    Maternal serum human thyroid-stimulating hormone (TSH) levels were investigated in chromosomally normal and Down syndrome pregnancies to determine whether TSH can be used as a marker for Down syndrome in the first trimester. Measurements were conducted on stored serum samples collected from 23 Down

  11. Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.

    Science.gov (United States)

    Peddibhotla, Sirisha; Nagamani, Sandesh C S; Erez, Ayelet; Hunter, Jill V; Holder, J Lloyd; Carlin, Mary E; Bader, Patricia I; Perras, Helene M F; Allanson, Judith E; Newman, Leslie; Simpson, Gayle; Immken, LaDonna; Powell, Erin; Mohanty, Aaron; Kang, Sung-Hae L; Stankiewicz, Pawel; Bacino, Carlos A; Bi, Weimin; Patel, Ankita; Cheung, Sau W

    2015-01-01

    Patients with terminal deletions of chromosome 6q present with structural brain abnormalities including agenesis of corpus callosum, hydrocephalus, periventricular nodular heterotopia, and cerebellar malformations. The 6q27 region harbors genes that are important for the normal development of brain and delineation of a critical deletion region for structural brain abnormalities may lead to a better genotype-phenotype correlation. We conducted a detailed clinical and molecular characterization of seven unrelated patients with deletions involving chromosome 6q27. All patients had structural brain abnormalities. Using array comparative genomic hybridization, we mapped the size, extent, and genomic content of these deletions. The smallest region of overlap spans 1.7 Mb and contains DLL1, THBS2, PHF10, and C6orf70 (ERMARD) that are plausible candidates for the causation of structural brain abnormalities. Our study reiterates the importance of 6q27 region in normal development of brain and helps identify putative genes in causation of structural brain anomalies.

  12. Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.

    Science.gov (United States)

    Peddibhotla, Sirisha; Nagamani, Sandesh C S; Erez, Ayelet; Hunter, Jill V; Holder, J Lloyd; Carlin, Mary E; Bader, Patricia I; Perras, Helene M F; Allanson, Judith E; Newman, Leslie; Simpson, Gayle; Immken, LaDonna; Powell, Erin; Mohanty, Aaron; Kang, Sung-Hae L; Stankiewicz, Pawel; Bacino, Carlos A; Bi, Weimin; Patel, Ankita; Cheung, Sau W

    2015-01-01

    Patients with terminal deletions of chromosome 6q present with structural brain abnormalities including agenesis of corpus callosum, hydrocephalus, periventricular nodular heterotopia, and cerebellar malformations. The 6q27 region harbors genes that are important for the normal development of brain and delineation of a critical deletion region for structural brain abnormalities may lead to a better genotype-phenotype correlation. We conducted a detailed clinical and molecular characterization of seven unrelated patients with deletions involving chromosome 6q27. All patients had structural brain abnormalities. Using array comparative genomic hybridization, we mapped the size, extent, and genomic content of these deletions. The smallest region of overlap spans 1.7 Mb and contains DLL1, THBS2, PHF10, and C6orf70 (ERMARD) that are plausible candidates for the causation of structural brain abnormalities. Our study reiterates the importance of 6q27 region in normal development of brain and helps identify putative genes in causation of structural brain anomalies. PMID:24736736

  13. Significance of chorionic villus karyotype analysis for abnormal early pregnancy ultrasound screening%早孕期超声筛查异常行绒毛核型分析的意义

    Institute of Scientific and Technical Information of China (English)

    吴坚柱; 谢英俊; 陈宝江; 陈健生; 林少宾

    2011-01-01

    hygroma in 1 case with abnormal karyotype. Conclusions: Pregnant women with abnormal early pregnancy ultrasound screening had a high abnormal rate of fetal chromosome. It was necessary to do chorionic villus karyotype analysis for them.

  14. Increased Fetal Plasma Erythropoietin in Monochorionic Twin Pregnancies With Selective Intrauterine Growth Restriction and Abnormal Umbilical Artery Doppler.

    Science.gov (United States)

    Chang, Yao-Lung; Chao, An-Shine; Peng, Hsiu-Huei; Chang, Shuenn-Dyh; Su, Sheng-Yuan; Chen, Kuan-Ju; Cheng, Po-Jen; Wang, Tzu-Hao

    2016-08-01

    Hypoxia is the primary stimulus for the production of erythropoietin (EPO) in both fetal and adult life. Here, we investigated fetal plasma EPO concentrations in monochorionic (MC) twin pregnancies with selective intrauterine growth restriction (sIUGR) and abnormal umbilical artery (UA) Doppler. We diagnosed sIUGR in presence of (1) birth-weight discordance >20% and (2) either twin with a birth weight <10th percentile. An abnormal UA Doppler was defined as a persistent absent-reverse end diastolic flow (AREDF). The intertwin EPO ratio was calculated as the plasma EPO level of the smaller (or small-for-gestational-age) twin divided by the EPO concentration of the larger (or appropriate-for-gestational-age (AGA)) twin. Thirty-two MC twin pairs were included. Of these, 17 pairs were normal twins (Group 1), seven pairs were twins with sIUGR without UA Doppler abnormalities (Group 2), and eight pairs were twins with sIUGR and UA Doppler abnormalities (Group 3). The highest EPO ratio was identified in Group 3 (p < .001) but no significant differences were observed between Groups 1 and 2. Fetal hemoglobin levels did not differ significantly in the three groups, and fetal EPO concentration did not correlate with gestational age at birth. We conclude that fetal plasma EPO concentrations are selectively increased in MC twin pregnancies with sIUGR and abnormal UA Doppler, possibly as a result of uncompensated hypoxia. PMID:27161360

  15. Anormalidades do primeiro trimestre da gravidez: ensaio iconográfico First trimester pregnancy abnormalities: iconographic essay

    Directory of Open Access Journals (Sweden)

    Lívia Teresa Moreira Rios

    2010-04-01

    Full Text Available As anormalidades do primeiro trimestre da gravidez são detectadas pela ultrassonografia transvaginal em exame de rotina ou em caso de sangramento vaginal anormal. A ameaça de abortamento é uma afecção comum no primeiro trimestre da gestação, ocorrendo em mais de um terço dos casos. O advento de sondas vaginais de alta resolução vem revolucionando nossa compreensão da fisiopatologia e o manejo da gestação inicial. Trata-se de ferramenta essencial para determinar a viabilidade da gestação nos casos de ameaça de abortamento. Uma conduta expectante no abortamento poderia reduzir significativamente o número de esvaziamentos desnecessários de produtos retidos, dependendo dos critérios utilizados.First trimester pregnancy abnormalities may be detected by transvaginal ultrasonography at routine examinations or in cases where abnormal vaginal bleeding is present. Threatened miscarriage is frequently observed in the first trimester, occurring in more than one-third of pregnancies. The advent of high-resolution transvaginal ultrasonography has revolutionized the understanding of the pathophysiology and the management of early pregnancy. This method represents an essential tool for determining the pregnancy viability in cases of threatened miscarriage. An expectant approach in the management of miscarriage could significantly reduce the number of unnecessary evacuations of retained products of conception, depending on the adopted criteria.

  16. Msh2 deficiency leads to chromosomal abnormalities, centrosome amplification, and telomere capping defect

    Energy Technology Data Exchange (ETDEWEB)

    Wang, Yisong [ORNL; Liu, Yie [ORNL

    2006-01-01

    Msh2 is a key mammalian DNA mismatch repair (MMR) gene and mutations or deficiencies in mammalian Msh2 gene result in microsatellite instability (MSI+) and the development of cancer. Here, we report that primary mouse embryonic fibroblasts (MEFs) deficient in the murine MMR gene Msh2 (Msh2-/-) showed a significant increase in chromosome aneuploidy, centrosome amplification, and defective mitotic spindle organization and unequal chromosome segregation. Although Msh2-/- mouse tissues or primary MEFs had no apparent change in telomerase activity, telomere length, or recombination at telomeres, Msh2-/- MEFs showed an increase in chromosome end-to-end fusions or chromosome ends without detectable telomeric DNA. These data suggest that MSH2 helps to maintain genomic stability through the regulation of the centrosome and normal telomere capping in vivo and that defects in MMR can contribute to oncogenesis through multiple pathways.

  17. Abnormal pairing of X and Y sex chromosomes during meiosis I in interspecific hybrids of Phodopus campbelli and P. sungorus.

    Science.gov (United States)

    Ishishita, Satoshi; Tsuboi, Kazuma; Ohishi, Namiko; Tsuchiya, Kimiyuki; Matsuda, Yoichi

    2015-03-24

    Hybrid sterility plays an important role in the maintenance of species identity and promotion of speciation. Male interspecific hybrids from crosses between Campbell's dwarf hamster (Phodopus campbelli) and the Djungarian hamster (P. sungorus) exhibit sterility with abnormal spermatogenesis. However, the meiotic phenotype of these hybrids has not been well described. In the present work, we observed the accumulation of spermatocytes and apoptosis of spermatocyte-like cells in the testes of hybrids between P. campbelli females and P. sungorus males. In hybrid spermatocytes, a high frequency of asynapsis of X and Y chromosomes during the pachytene-like stage and dissociation of these chromosomes during metaphase I (MI) was observed. No autosomal univalency was observed during pachytene-like and MI stages in the hybrids; however, a low frequency of synapsis between autosomes and X or Y chromosomes, interlocking and partial synapsis between autosomal pairs, and γ-H2AFX staining in autosomal chromatin was observed during the pachytene-like stage. Degenerated MI-like nuclei were frequently observed in the hybrids. Most of the spermatozoa in hybrid epididymides exhibited head malformation. These results indicate that the pairing of X and Y chromosomes is more adversely affected than that of autosomes in Phodopus hybrids.

  18. Outcome after allogeneic transplantation for adult acute myeloid leukemia patients exhibiting isolated or associated trisomy 8 chromosomal abnormality : a survey on behalf of the ALWP of the EBMT

    NARCIS (Netherlands)

    Chevallier, P.; Labopin, M.; Nagler, A.; Ljungman, P.; Verdonck, L. F.; Volin, L.; Zander, A. R.; Finke, J.; Socie, G.; Cordonnier, C.; Harousseau, J-L; Mohty, M.; Rocha, V.

    2009-01-01

    The aim of this multicenter retrospective analysis was to carry out a survey of overall outcomes after allohematopoietic SCT of AML patients harboring trisomy 8 (+8) as the sole chromosomal abnormality or associated with other abnormalities. We have identified 182 de novo AML patients who underwent

  19. A new recurring chromosome 13 abnormality in two older patients with de novo acute myeloid leukemia: An Indian experience

    Directory of Open Access Journals (Sweden)

    Trivedi P

    2009-01-01

    Full Text Available We report here two cases of trisomy 13 in acute myeloid leukemia M1 subtype. short-term unstimulated bone marrow and peripheral blood lymphocyte culture showed 47, XY, +13 in all metaphase plates and trisomy 13 was confirmed with whole chromosome paint probes. Trisomy 13 in AML-M1 is a rare numerical abnormality. This is the first Indian report of sole trisomy 13 in AML-M1. Here, we present two cases of elder male patients, which may constitute a distinct subtype.

  20. Influence of different chromosomal abnormalities in Ph-positive bone marrow cells on the chronic myeloid leukemia course during tyrosine kinase inhibitors therapy

    Directory of Open Access Journals (Sweden)

    O. Yu. Vinogradova

    2014-07-01

    Full Text Available The additional molecular and chromosomal abnormalities (ACA in Phositive cells usually considered as a genetic marker of chronic myeloid leukemia (CML progression. 457 patients in different CML phases received tyrosine kinase inhibitors (1st and 2nd generation were studied. During therapy 50 cases with additional chromosomal abnormalities in Ph+ clone (22 of them in chronic CML phase were revealed (median follow-up from CML diagnosis – 117 months, median imatinib therapy – 62 months. 86 % of patients in chronic phase with Ph+- cell abnormalities were cytogenetic resistance, and their 5-years overall survival was 80 % which was significantly lower than in patients without ACA (p < 0.005. The treatment results depend on chromosomal abnormalities detected. In patients with additional chromosome 8 imatinib therapy is effective, although complete cytogenetic response (CCR is achieved only in the later therapy stages. In patients with additional translocations CCR also achieved with imatinib or 2nd generation TKI. Only a third of patients with additional Ph-chromosome or BCR/ABL amplification achieved complete suppression of Ph+ clone using 2nd generation TKI. The presence of additional chromosomeabnormalities and complex karyotype disorders involving isochromosome i(17(q10 are poor prognostic factors of TKI treatment failures.

  1. Influence of different chromosomal abnormalities in Ph-positive bone marrow cells on the chronic myeloid leukemia course during tyrosine kinase inhibitors therapy

    Directory of Open Access Journals (Sweden)

    O. Yu. Vinogradova

    2012-01-01

    Full Text Available The additional molecular and chromosomal abnormalities (ACA in Phositive cells usually considered as a genetic marker of chronic myeloid leukemia (CML progression. 457 patients in different CML phases received tyrosine kinase inhibitors (1st and 2nd generation were studied. During therapy 50 cases with additional chromosomal abnormalities in Ph+ clone (22 of them in chronic CML phase were revealed (median follow-up from CML diagnosis – 117 months, median imatinib therapy – 62 months. 86 % of patients in chronic phase with Ph+- cell abnormalities were cytogenetic resistance, and their 5-years overall survival was 80 % which was significantly lower than in patients without ACA (p < 0.005. The treatment results depend on chromosomal abnormalities detected. In patients with additional chromosome 8 imatinib therapy is effective, although complete cytogenetic response (CCR is achieved only in the later therapy stages. In patients with additional translocations CCR also achieved with imatinib or 2nd generation TKI. Only a third of patients with additional Ph-chromosome or BCR/ABL amplification achieved complete suppression of Ph+ clone using 2nd generation TKI. The presence of additional chromosomeabnormalities and complex karyotype disorders involving isochromosome i(17(q10 are poor prognostic factors of TKI treatment failures.

  2. Identification of Chromosome Abnormalities in Subtelomeric Regions by Microarray Analysis: A Study of 5,380 Cases

    Science.gov (United States)

    Shao, Lina; Shaw, Chad A.; Lu, Xin-Yan; Sahoo, Trilochan; Bacino, Carlos A.; Lalani, Seema R.; Stankiewicz, Pawel; Yatsenko, Svetlana A.; Li, Yinfeng; Neill, Sarah; Pursley, Amber N.; Chinault, A. Craig; Patel, Ankita; Beaudet, Arthur L.; Lupski, James R.; Cheung, Sau W.

    2009-01-01

    Subtelomeric imbalances are a significant cause of congenital disorders. Screening for these abnormalities has traditionally utilized GTG-banding analysis, fluorescence in situ hybridization (FISH) assays, and multiplex ligation-dependent probe amplification. Microarray-based comparative genomic hybridization (array-CGH) is a relatively new technology that can identify microscopic and submicroscopic chromosomal imbalances. It has been proposed that an array with extended coverage at subtelomeric regions could characterize subtelomeric aberrations more efficiently in a single experiment. The targeted arrays for chromosome microarray analysis (CMA), developed by Baylor College of Medicine, have on average 12 BAC/PAC clones covering 10 Mb of each of the 41 subtelomeric regions. We screened 5,380 consecutive clinical patients using CMA. The most common reasons for referral included developmental delay (DD), and/or mental retardation (MR), dysmorphic features (DF), multiple congenital anomalies (MCA), seizure disorders (SD), and autistic, or other behavioral abnormalities. We found pathogenic rearrangements at subtelomeric regions in 236 patients (4.4%). Among these patients, 103 had a deletion, 58 had a duplication, 44 had an unbalanced translocation, and 31 had a complex rearrangement. The detection rates varied among patients with a normal karyotype analysis (2.98%), with an abnormal karyotype analysis (43.4%), and with an unavailable or no karyotype analysis (3.16%). Six patients out of 278 with a prior normal subtelomere-FISH analysis showed an abnormality including an interstitial deletion, two terminal deletions, two interstitial duplications, and a terminal duplication. In conclusion, genomic imbalances at subtelomeric regions contribute significantly to congenital disorders. Targeted array-CGH with extended coverage (up to 10 Mb) of subtelomeric regions will enhance the detection of subtelomeric imbalances, especially for submicroscopic imbalances. PMID

  3. Chromosome

    Science.gov (United States)

    Chromosomes are structures found in the center (nucleus) of cells that carry long pieces of DNA. DNA ... is the building block of the human body. Chromosomes also contain proteins that help DNA exist in ...

  4. Genes on chromosomes 4, 9, and 19 involved in 11q23 abnormalities in acute leukemia share sequence homology and/or common motifs.

    OpenAIRE

    Nakamura, T.(International Center for Elementary Particle Physics and Department of Physics, The University of Tokyo, Tokyo, Japan); Alder, H; Y. Gu; R. Prasad; Canaani, O; Kamada, N; Gale, R P; Lange, B; Crist, W M; Nowell, P C

    1993-01-01

    Chromosome translocations involving band 11q23 are associated with human acute leukemias. These translocations fuse the ALL-1 gene, homolog of Drosophila trithorax and located at chromosome band 11q23, to genes from a variety of chromosomes. We cloned and sequenced cDNAs derived from transcripts of the AF-4 and AF-9 genes involved in the most common chromosome abnormalities, t(4:11)(q21:q23) and t(9:11)(p22:q23), respectively. Sequence analysis indicates high homology between the AF-9 gene pr...

  5. Children's chromosome with abnormal karyotypes and clinical analysis in Huzhou city%湖州地区遗传咨询儿童染色体异常核型及临床分析

    Institute of Scientific and Technical Information of China (English)

    翁学军; 沈国松

    2012-01-01

    Objective: Through the study of genetic counseling children's chromosome with abnormal karyotypes characteristics, in order to provide a scientific basis for reducing the birth rate of children with chromosome disease of the region and improving population quality. Method; To analyze the chromosome karyotype of peripheral blood of the children who have the clinical manifestations of mental retardation, growth retardation, congenital malformation. Result: 93 cases were found abnormal chromosome karyotype, abnormal detection rate 38. 43% ; 80 cases were autosomal abnormal karyotype, accounting for the total number of checks of 33. 06% , accounting for abnormal number of 86. 02% , 13 cases were abnormal of the sex chromosome karyotype, accounting for the total number of checks of 5. 37% , accounting for the number of abnormal of 13. 98%. Conclusion; Chromosomal abnormalities is one important cause leading to children's mental retardation, growth retardation, congenital malformations, or even death, strengthen health education and genetic counseling during pregnancy, further increase the intensity of prenatal screening and prenatal diagnosis, and continuously improve the diagnostic accuracy of chromosomal diseases, is an effective means to reduce the birth rate of chromosomal sick children and improve the quality of birth.%目的 通过探讨我院遗传咨询儿童染色体异常核型特点,为降低本地区染色体病患儿的出生率、提高出生人口素质提供科学依据.方法 对临床表现为智能低下、生长发育迟缓、先天畸形、特殊表型等儿童进行外周血染色体核型分析.结果 发现染色体异常核型93例,异常检出率为38.43%;其中常染色体异常核型80例,占总检查数的33.06%,占异常数的86.02%,性染色体异常核型13例,占总检查数的5.37%,占异常数的13.98%.结论 染色体异常是导致儿童智能低下、生长发育迟缓、先天畸形、甚至死亡的重要病因之一,

  6. Chromosomal analysis in peripheral blood of 739 infertile patients with adverse pregnancy history%739例有不良孕产史及不育不孕患者外周血染色体分析

    Institute of Scientific and Technical Information of China (English)

    何娟

    2011-01-01

    Objective:To explore the relationship between abnormal chromosomal karyotype in peripheral blood and adverse pregnancy history, infertility. Methods;739 infertile patients with adverse pregnancy history received culture and preparation section of lymphocytes in peripheral blood and C -binding chromosome karyotyping. Results:21 patients were found with chromosomal polymorphism, 8 patients were found with balanced translocation (including 1 patient with Robertsonian translocation) , 1 patient was found with pericentric inversion of chromosome 21,5 patients were found with chimera, the proportion of abnormal karyotypes was 4. 74%. Conclusion: Unexplained spontaneous abortion, stillbirth, teratism are related to chromosomal abnormality. The carriers of abnormal chromosome without phenotype can transmit it to their infants, induce infertility and adverse pregnant phenomena, such as abortion, stillbirth and teratism. Genetic counseling should be provided to the carriers, and prenatal diagnosis should be carried out among the pregnant women, which play important roles in a-voiding the birth of infants with chromosomal diseases, reducing birth defect and improving the quality of birth population in the region.%目的:探讨外周血异常染色体核型与不良孕产史、不育不孕的关系.方法:对739例有不良孕产史及不育不孕夫妇的外周血淋巴细胞进行培养、制片及G显带染色体核型分析.结果:检出染色体多态性21例,平衡易位8例(其中1例为罗伯逊易位),21号染色体臂间倒位1例,嵌合体5例,异常核型约占4.74%.结论:不明原因的流产、死胎、畸胎与染色体异常有关.无表型的异常染色体携带者可将异常染色体核型传给子代,不仅可引起不孕不育,还可以引起流产、死胎、畸胎等不良孕产现象.对检出携带者应为其提供遗传咨询,对妊娠成功者进行产前诊断,避免染色体病患儿的出生,减少出生缺陷,对提高本地区人口素质具有重要意义.

  7. Chromosomal karyotype analysis in cord blood of 176 abnormal fetus diagnosised duringprenatal ultrasonography%176例超声诊断结构异常胎儿的脐血染色体核型分析

    Institute of Scientific and Technical Information of China (English)

    刘振红; 刘永红; 刘晓玲

    2012-01-01

    目的 探讨对超声诊断结构异常胎儿进行脐血染色体核型分析的意义.方法 选择我院因产前超声诊断胎儿结构异常而自愿行介入性产前诊断的孕妇176例,行脐静脉穿刺,分析脐血细胞染色体核型.结果 脐静脉穿刺成功率为98.86%,脐血细胞培养率为100%.确诊染色体异常胎儿18例(10.23%),其中21-三体综合征6例,18-三体综合征7例,13-三体综合征2例,Turner综合征1例,三体征1例,染色体易位1例.结论 对超声诊断结构异常胎儿进行介入性产前诊断,可以明确是否为染色体异常疾病,有重要的临床意义;脐静脉穿刺因其对母儿风险小,操作简便,且不受妊娠时间的限制而具有重要意义.%Objective: To investigate the value of chromosomal karyotype analysis in cord blood of fetus, which were discovered structural abnormalities during ultrasound diagnosis. Methods: Cordocenteses guided by transabdominal ultrasound were performed on 176 pregnant women in our hospital because the diagnosis of fetal structure exceptions discovered during prenatal ultrasonography, and fetal chromosomal karyotypes were examined. Results: The success rate of cordocenteses was 98. 86% , and chromosomal karyotype a-nalysis was succeed in all of them. 18 cases confirmed chromosomal abnormalities fetus, with 21 - trisome syndrome 6 cases, 18 -trisome syndrome 7 cases, 13 - trisome syndrome 2 cases, Turner syndrome 1 case, triploid 1 case, chromosome translocation 1 case. Conclusion: The interventional prenatal diagnosis on structural abnormalities fetus discovered during ultrasound, can confirm whether the chromosome abnormality disease happen. This have important clinical significance; Because of the low risk to both of mother and the fetus, easy operation as well as not subject to the pregnancy time, the cordocentesis is worth well.

  8. Impact of maternal metabolic abnormalities in pregnancy on human milk and subsequent infant metabolic development: methodology and design

    Directory of Open Access Journals (Sweden)

    Hamilton Jill K

    2010-10-01

    Full Text Available Abstract Background Childhood obesity is on the rise and is a major risk factor for type 2 diabetes later in life. Recent evidence indicates that abnormalities that increase risk for diabetes may be initiated early in infancy. Since the offspring of women with diabetes have an increased long-term risk for obesity and type 2 diabetes, the impact of maternal metabolic abnormalities on early nutrition and infant metabolic trajectories is of considerable interest. Human breast milk, the preferred food during infancy, contains not only nutrients but also an array of bioactive substances including metabolic hormones. Nonetheless, only a few studies have reported concentrations of metabolic hormones in human milk specifically from women with metabolic abnormalities. We aim to investigate the impact of maternal metabolic abnormalities in pregnancy on human milk hormones and subsequently on infant development over the first year of life. The objective of this report is to present the methodology and design of this study. Methods/Design The current investigation is a prospective study conducted within ongoing cohort studies of women and their offspring. Pregnant women attending outpatient obstetrics clinics in Toronto, Canada were recruited. Between April 2009 and July 2010, a total of 216 pregnant women underwent a baseline oral glucose tolerance test and provided medical and lifestyle history. Follow-up visits and telephone interviews are conducted and expected to be completed in October 2011. Upon delivery, infant birth anthropometry measurements and human breast milk samples are collected. At 3 and 12 months postpartum, mothers and infants are invited for follow-up assessments. Interim telephone interviews are conducted during the first year of offspring life to characterize infant feeding and supplementation behaviors. Discussion An improved understanding of the link between maternal metabolic abnormalities in pregnancy and early infant nutrition may

  9. Analysis on relevance between fetal nuchal translucency and chromosome abnormality%胎儿颈项透明层增厚与胎儿染色体异常的关联性研究

    Institute of Scientific and Technical Information of China (English)

    刘冬菊; 雷桔红; 钟凯

    2016-01-01

    Objective To evaluate the relevance between fetal nuchal translucency and chromosome abnormality.Methods 566 cases of pregnancies with fetal nuchal translucency measurement were divided into normal NT group and abnormal NT group .The abnormal NT group was divided into mild thickened NT group and severe thickened NT group .The abnormal chromosome incidence of each group was analyzed .Results 566 cases includes 355 cases with normal NT and 211 cases with abnormal NT .21 cases (5.9%) in normal NT group were complicated with abnormal fetal chromosome , including 14 cases of trisomy 21, one case of trisomy 18 and one case of abnormal sex chromosome .39 cases (18.5%) in abnormal NT group were complicated with abnormal fetal chromosome, including 21 cases of trisomy 21, six cases of trisomy 18 and three cases of abnormal sex chromosome .The abnormal chromosome incidence of abnormal NT group was significantly higher than that of normal NT group(P>0.05).211 cases of abnormal NT group included 112 cases in mild thickened NT group and 99 cases in severe thickened NT group .The abnormal chromosome incidence of severe thickened NT group (27.3%) was significantly higher than that of normal NT group (10.7%)(P>0.05).Conclusions Fetuses with thickened NT are highly relevant with fetal chromosomal abnormalities . Aneuploid is the common chromosome abnormalities in fetuses with abnormal NT .NT is a useful marker in prenatal screening .%目的:探讨胎儿NT异常与染色体异常的关系。方法对我院产前超声NT筛查并行羊水穿刺产前诊断的566病例分为NT正常组和NT异常组,分析并比较两组染色体异常的比例。将NT增厚的病例又分为轻度增厚组和明显增厚组,比较两组的染色体异常的比例。结果566例中NT正常355例和NT异常211例,NT正常组中有21例合并染色体异常,比例为5.9%,包括染色体非整倍体16例,分别为21三体14例,18三体1例,性染色体异常1

  10. Congenital heart diseases caused by chromosome abnormality%染色体异常致先天性心脏病的研究进展

    Institute of Scientific and Technical Information of China (English)

    李娟

    2013-01-01

    Chromosome abnormality has recently been recognized as an important cause of congenital heart diseases(CHD).The tiny fragment deformity of the chromosome may lead to many abnormal genes expression.Recent studies have disclosed that CHD is a part of syndrome attributed to chromosome abnormality.This article reviews chromosome abnormality caused by trisomy chromosome,chromosome deletions,Tuner syndrome and Kleinfelte's syndrome as well as incidence,type,mechanism and prognosis of its complicated CHD.%染色体异常是先天性心脏病的重要病因之一.目前普遍认为染色体的微小片段畸形可能导致多个基因的表达异常.新近发现先天性心脏病常表现为染色体异常导致一部分临床综合征.该文就三体型染色体异常、染色体缺失、特纳综合征、克兰费尔特综合征等染色体异常合并先天性心脏病的概率、类型、合并的其他畸形、机制及预后等方面的进展进行综述.

  11. 妊娠晚期心电图的异常分析%Analysis of ECG Abnormalities in Late Pregnancy

    Institute of Scientific and Technical Information of China (English)

    吐逊古•阿西木; 迪丽拜尔•克尤木

    2014-01-01

    Objective The ecg changes in late pregnancy women and the relationship between the clinical and treatment method.Methods The guangdong state built ECG- 9803 type routine eeg, ECG machine, analysis the change of electrocardiogram (ECG), 148 cases of late pregnancy women.Results The types of abnormal ecg in 148 cases of late pregnancy women were,electrical axis left 75 cases,40 cases of sinus tachycardia,sinus arrhythmia,12 cases were shortened period between P-R 10 cases,5 cases of premature beat,QRS low voltage 4 cases,S T-T change in 2 cases.Conclusion See more quite late pregnancy women abnormal ecg, should be focus on change, timely intervention treatment when necessary, to ensure life safety of pregnant women and fetus.%目的探讨妊娠晚期妇女心电图改变与临床的关系及处理方法。方法采用美国M 1772A型心电图机进行常规描记,分析148例妊娠晚期女性的心电图的改变。结果148例孕晚期妇女中心电图异常的种类分别是,电轴左偏75例,窦性心动过速40例、窦性心律不齐12例,P-R间期缩短10例、早搏5例、QRS低电压4例,ST-T改变2例。结论妊娠晚期妇女心电图异常比较多见,应予关注改变,必要时及时进行干预治疗,以保障孕妇和胎儿的生命安全。

  12. Air Pollution Exposure and Abnormal Glucose Tolerance during Pregnancy: The Project Viva Cohort

    OpenAIRE

    Fleisch, Abby F.; Gold, Diane R.; Rifas-Shiman, Sheryl L; Koutrakis, Petros; Schwartz, Joel D; Kloog, Itai; Melly, Steven; Coull, Brent A.; Zanobetti, Antonella; Gillman, Matthew W.; Oken, Emily

    2014-01-01

    Background: Exposure to fine particulate matter (PM with diameter ≤ 2.5 μm; PM2.5) has been linked to type 2 diabetes mellitus, but associations with hyperglycemia in pregnancy have not been well studied. Methods: We studied Boston, Massachusetts–area pregnant women without known diabetes. We identified impaired glucose tolerance (IGT) and gestational diabetes mellitus (GDM) during pregnancy from clinical glucose tolerance tests at median 28.1 weeks gestation. We used residential addresses to...

  13. Chromosome abnormalities in Down's syndrome patients with acute leukemia

    Energy Technology Data Exchange (ETDEWEB)

    Kaneko, Y. (Univ. of Chicago, IL); Rowley, J.D.; Variakojis, D; Chilcote, R.R.; Moohr, J.W.; Patel, D.

    1981-09-01

    Chromosome and cytologic studies were performed on three Down's syndrome (DS) patients with acute nonlymphocytic leukemia (ANLL). All three patients had an aneuploid clone in their leukemic cells: 50,XX, +6, +19, +21, +22, 48,XX, +8, +21, and 47,XY, +8, -21, +dic(21;21)(p13;p11). Every patient appeared to have acute undifferentiated leukemia when the blast cells were examined with Wright-Giemsa stain; cytochemistry studies, however, showed that the leukemic blasts were in an early stage of myeloid differentation. The two patients with +8 had a preleukemic phase; the blast cells of the patient with an extra no. 19 and no. 22 could not be differentiated morphologically from those of the two patients with an extra no. 8. Our findings and a review of data on 40 other patients suggest that most DS children with ANLL have hyperdiploidy, which is usually related to gains of C, F, and/or G chromosomes.

  14. Radioimmunoassay of serum SP 1 and HPL in normal and abnormal pregnancies

    International Nuclear Information System (INIS)

    Serum concentrations of the pregnancy-specific β1-glycoprotein (SP 1) and human placental lactogen (HPL) were measured by radioimmunoassay in 372 blood samples obtained from 40 women in the second half of a normal singleton pregnancy. The mean level of SP 1 steadily increased from 40 μg/ml in the 22nd week of pregnancy to 168 μg/ml in the 36th week of gestation and thereafter reached a plateau. The half-life of SP 1 during the first week after delivery was about 39 h. The clinical value of SP 1 in comparison to HPL estimation was assessed in a prospective study of a few high risk pregnancies. There were no significant differences between serum SP 1 and HPL levels in pregnancies complicated by preeclampsia with or without intrauterine growth retardation and in twin pregnancies. Serum HPL and SP 1 levels were equally effective in predicting placental insufficiency with fetal growth retardation. (orig./AJ)

  15. Prevalence of chromosomal abnormalities and timing of karyotype analysis in patients with recurrent implantation failure (RIF) following assisted reproduction

    Science.gov (United States)

    De Sutter, P.; Stadhouders, R.; Dutré, M.; Gerris, J.; Dhont, M.

    2012-01-01

    Aims: To analyze the prevalence and type of karyotype abnormalities in RIF patients and to evaluate the adequate timing for analysis and the presence of possible risk factors. Methods: 615 patients (317 women and 298 men) with RIF, having undergone at least 3 sequential failed IVF/ICSI cycles prior to karyotype analysis, were included in this study. Anomaly rates found were compared with published series. Results: Chromosomal abnormalities were diagnosed in 2.1% of patients (13/615): 8 females (2.5%) and 5 males (1.7%) which is significantly higher for the females than in unselected newborns (0.8%) and normo-ovulatory women (0.6%) but lower than in women with high-order implantation failure (10.8%). No significant differences were found with couples at the start of IVF/ICSI (2.0%). Karyotyping all patients prior to IVF/ICSI results in a higher cost than selecting RIF patients. Two subgroups showed an increased prevalence of abnormalities: secondary infertile women with a history of only miscarriages (9.1%) and women with female infertility (6.0%). Conclusion: A karyotype analysis is indicated in all women with RIF. Nulliparous women with a history of miscarriage and women with documented infertility are at greater risk of CA and are to be advised to undergo karyotyping. PMID:24753890

  16. 自然流产胚胎染色体数目异常的临床研究%Clinical research on chromosomal numerical abnormality in embryos of spontaneous abortion

    Institute of Scientific and Technical Information of China (English)

    韦红卫; 杜娟; 陈科; 蒋丽; 谭芸; 白华; 夏红卫; 莫云

    2012-01-01

    Objective: To explore the relationship between chromosomal numerical abnormality and spontaneous abortion, analyze the influencing factors of spontaneous abortion. Methods: Fluorescent in situ hybridization technique was used to detect the chromosomal number in chorionic villus of one hundred cases with early spontaneous abortion, then the relationship between chromosomal number and spontaneous abortion was analyzed. Results: Among 100 cases, 42 cases were found with chromosomal numerical abnormality, accounting for 42. 00% ; 16 cases were found with chimera, accounting for 16.00%. The most common chromosomal abnormality was triploid, accounting for 35. 71% , followed by 45, X and trisomy 16, accounting for 16.67% and 14. 29% , respectively. The detection rate of chromosomal abnormality in advanced age group (3=35 years) was 45.46% (10/22), while the detection rate of chromosomal abnormality in non - advanced age group ( 0.05) . The detection rate of chromosomal abnormality in the cases with history of spontaneous abortion was 42.55% (20/47), while the detection rate of chromosomal abnormality in the cases without history of spontaneous abortion was 41.51% ( 22/53), there was no significant difference ( P > 0. 05) . The detection rate of chromosomal abnormality in the cases of S10 gestational weeks was 45.00% (27/60), while the detection rate of chromosomal abnormality in the cases of > 10 gestational weeks was 37.50% (15/40) , there was no significant difference (P >0.05) . Conclusion; Chromosomal abnormality is the main cause of early spontaneous abortion, regardless of maternal age, previous history of spontaneous abortion or not, and gestational weeks, the cases with spontaneous abortion at this time may be associated with chromosomal abnormality. Clinicians should pay more attention to chromosomal examination, in order to provide genetic counseling for subsequent pregnancy.%目的:探讨染色体数目异常与自然流产的关系及其影响因素.方法:

  17. A prospective clinical study of feto-maternal outcome in pregnancies with abnormal liquor volume

    Directory of Open Access Journals (Sweden)

    Rutwa J. Chavda

    2014-02-01

    Conclusions: A good clinical examination can pick up most subjects of abnormal liquor volume. Abnormal liquor volumes are associated with increased maternal morbidity and adverse perinatal outcome. [Int J Reprod Contracept Obstet Gynecol 2014; 3(1.000: 181-184

  18. A REPORT OF 4 CASES OF CHROMOSOME ABNORMALITIES IN 115 FAMILIES WITH CONSANGUINEOUS MARRIAGE

    Directory of Open Access Journals (Sweden)

    H.Khavari- Khorasani

    1992-06-01

    Full Text Available 115 couples with consanguineous marriage, who had experienced reported abortions or still births either in their close relatives (3 couples or themselves (1 couple were exposed to genetic counseling (at the Shahid Akbarabadi hospital Cytogenetic studied were carried out using both conventional staining and G.T.G banding for all the cases studied. The investigation demonstrated various forms of balanced translocation as fully discussed in the presented paper. During genetic counseling, information5 were also given to each couple regarding the Probability of having healthy or affected offspring’s, and also concerning prenatal diagnosis of the futures during pregnancies.

  19. Independent component analysis of normal and abnormal rhythm in twin pregnancies

    International Nuclear Information System (INIS)

    We investigated the utility of ICA for evaluation of fetal rhythm in five uncomplicated twin pregnancies and in five twin pregnancies complicated by fetal arrhythmia. Using objective and subjective criteria, we sought to determine how the signal-to-noise ratio, signal fidelity and interference rejection are affected when synthesizing the fetal signal using all the signal-containing ICA components (rank-p ICA) versus using the single dominant component (rank-1 ICA). The signal of each fetus was most commonly distributed over 1 or 2 ICA components, as previously observed in studies of singleton pregnancies; however, in 8 of 26 (31%) cases the signal of each fetus was distributed over 3, 4 or even 5 ICA components. Rank-1 ICA provided the highest SNR and interference rejection, but at the cost of reduced signal fidelity. Our results corroborate that in twin pregnancies, including twin pregnancies complicated by fetal arrhythmia, rank-1 ICA is very effective in isolating the QRS complexes of each fetus; however, it has some limitations when used for fetal rhythm evaluation due to signal distortion. Occasionally, rank-1 ICA completely separates the P-wave and the T-wave from the QRS complex, thus requiring the mixing of several ICA components to achieve acceptable signal fidelity

  20. SCREENING FOR A 21-CHROMOSOME ABNORMALITY IN PREIMPLANTED EMBRYOS OF ELDERLY WOMEN

    Institute of Scientific and Technical Information of China (English)

    Fang-yin Meng; Xiao-hong Li

    2004-01-01

    @@ Increasing maternal age is the only etiological factor unequivocally linked to Down's syndrome in humans. The occurrence rate of newborns with Down's syndrome is about 1/220 in women over 35 years old. However, the occurrence rate in embryos fertilized in vitro, of the elder woman is unclear. Using FISH we screened the number of chromosome 21 in preimplanted embryos of 5 elderly women (average age, 38.4 years) to study the feasibility and necessity of screening trisomy 21 in embryos in patients over 35 years old at the in vitro fertilization (IVF) center.

  1. Effects of oocyte quality, incubation time and maturation environment on the number of chromosomal abnormalities in IVF-derived early bovine embryos.

    Science.gov (United States)

    Demyda-Peyrás, Sebastian; Dorado, Jesus; Hidalgo, Manuel; Anter, Jaouad; De Luca, Leonardo; Genero, Enrique; Moreno-Millán, Miguel

    2013-01-01

    Chromosomal aberrations are one of the major causes of embryo developmental failures in mammals. The occurrence of these types of abnormalities is higher in in vitro-produced (IVP) embryos. The aim of the present study was to investigate the effect of oocyte morphology and maturation conditions on the rate of chromosomal abnormalities in bovine preimplantational embryos. To this end, 790 early cattle embryos derived from oocytes with different morphologies and matured under different conditions, including maturation period (24 v. 36h) and maturation media (five different serum supplements in TCM-199), were evaluated cytogenetically in three sequential experiments. The rates of normal diploidy and abnormal haploidy, polyploidy and aneuploidy were determined in each embryo. Throughout all the experiments, the rate of chromosomal abnormalities was significantly (P<0.05) affected by oocyte morphology and maturation conditions (maturation time and culture medium). Lower morphological quality was associated with a high rate of chromosome abnormalities (P<0.05). Moreover, polyploidy was associated with increased maturation time (P<0.01), whereas the maturation medium significantly (P<0.05) affected the rates of haploidy and polyploidy. In general, supplementing the maturation medium with oestrous cow serum or fetal calf serum resulted in higher rates of chromosomal aberrations (P<0.05) compared with the other serum supplements tested (bovine steer serum, anoestroues cow serum, bovine amniotic fluid and bovine serum albumin). On the basis of the results of the present study, we conclude that the morphological quality of oocytes and the maturation conditions affect the rate of chromosomal abnormalities in IVP bovine embryos.

  2. Evaluation of chromosomal abnormalities by clg-FISH and association with proliferative and apoptotic indexes in multiple myeloma

    Energy Technology Data Exchange (ETDEWEB)

    Linardi, C.C.G.; Martinez, G.; Velloso, E.D.R.P.; Leal, A.M.; Kumeda, C.A.; Buccheri, V. [Disciplina de Hematologia e Hemoterapia, Departamento de Clínica Médica, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP (Brazil); Azevedo, R.S. [Departamento de Patologia, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP (Brazil); Peliçario, L.M.; Dorlhiac-Llacer, P. [Disciplina de Hematologia e Hemoterapia, Departamento de Clínica Médica, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP (Brazil)

    2012-08-24

    Eighty-six newly diagnosed multiple myeloma (MM) patients from a public hospital of São Paulo (Brazil) were evaluated by cIg-FISH for the presence of del(13)(q14), t(4;14)(p16.3;q32) and del(17)(p13). These abnormalities were observed in 46.5, 9.3, and 7.0% of the patients, respectively. In order to identify the possible role of del(13)(q14) in the physiopathology of MM, we investigated the association between this abnormality and the proliferative and apoptotic indexes of plasma cells. When cases demonstrating t(4;14)(p16.3;q32) and del(17)(p13) were excluded from the analysis, we observed a trend towards a positive correlation between the proportion of cells carrying del(13)(q14) and plasma cell proliferation, determined by Ki-67 expression (r = 0.23, P = 0.06). On the other hand, no correlation between the proportion of cells carrying del(13)(q14) and apoptosis, determined by annexin-V staining, was detected (r = 0.05, P = 0.69). In general, patients carrying del(13)(q14) did not have lower survival than patients without del(13)(q14) (P = 0.15), but patients with more than 80% of cells carrying del(13)(q14) showed a lower overall survival (P = 0.033). These results suggest that, when del(13)(q14) is observed in a high proportion of malignant cells, it may have a role in determining MM prognosis. Another finding was a statistically significant lower overall survival of patients with t(4;14)(p16.3;q32) (P = 0.026). In the present study, almost half the patients with t(4;14)(p16.3;q32) died just after diagnosis, before starting treatment. This fact suggests that, in São Paulo, there may be even more patients with this chromosomal abnormality, but they probably die before being diagnosed due to unfavorable socioeconomic conditions. This could explain the low prevalence of this chromosomal abnormality observed in the present study.

  3. Use of a 10,600-nm CO2 Laser Mandibular Vestibular Extension in a Patient With a Chromosomal Abnormality.

    Science.gov (United States)

    Levine, Robert; Vitruk, Peter

    2016-09-01

    Vestibuloplasty involves a series of surgical procedures designed to restore alveolar ridge height by lowering the muscles attached to the buccal, labial, and lingual aspects of the jaws. The technique is indicated in cases of insufficient vestibular depth that may result from atrophy of the alveolar ridge and/or high attachment of muscle or movable mucosa. This article focuses on a carbon dioxide (CO2) laser vestibular extension procedure performed in a patient with Klinefelter syndrome, which is caused by a chromosomal abnormality. The 10,600-nm CO2 laser is shown to offer several advantages over a conventional scalpel and other laser wavelengths for soft-tissue pre-prosthetic surgery, including vestibular extension. PMID:27608196

  4. The use of molecular and cytogenetic methods as a valuable tool in the detection of chromosomal abnormalities in horses: a case of sex chromosome chimerism in a Spanish purebred colt.

    Science.gov (United States)

    Demyda-Peyrás, S; Membrillo, A; Bugno-Poniewierska, M; Pawlina, K; Anaya, G; Moreno-Millán, M

    2013-01-01

    Chromosomal abnormalities associated to sex chromosomes are reported as a problem more common than believed to be in horses. Most of them remain undiagnosed due to the complexity of the horse karyotype and the lack of interest of breeders and veterinarians in this type of diagnosis. Approximately 10 years ago, the Spanish Purebred Breeders Association implemented a DNA paternity test to evaluate the pedigree of every newborn foal. All candidates who showed abnormal or uncertain results are routinely submitted to cytogenetical analysis to evaluate the presence of chromosomal abnormalities. We studied the case of a foal showing 3 and even 4 different alleles in several loci in the short tandem repeat (STR) -based DNA parentage test. To confirm these results, a filiation test was repeated using follicular hair DNA showing normal results. A complete set of conventional and molecular cytogenetic analysis was performed to determine their chromosomal complements. C-banding and FISH had shown that the foal presents a sex chimerism 64,XX/64,XY with a cellular percentage of approximately 70/30, diagnosed in blood samples. The use of a diagnostic approach combining routine parentage QF-PCR-based STR screening tested with classical or molecular cytogenetic analysis could be a powerful tool that allows early detection of foals that will have a poor or even no reproductive performance due to chromosomal abnormalities, saving time, efforts and breeders' resources.

  5. Comparative Study of Domoic Acid and Okadaic Acid Induced - Chromosomal Abnormalities in the CACO-2 Cell Line

    Directory of Open Access Journals (Sweden)

    Edmond E. Creppy

    2006-03-01

    Full Text Available Okadaic Acid (OA the major diarrheic shellfish poisoning (DSP toxin is known as a tumor promoter and seems likely implicated in the genesis of digestive cancer. Little is known regarding genotoxicity and carcinogenicity of Domoic Acid (DA, the major Amnesic Shellfish Poisoning (ASP toxin. Both OA and DA occur in seafood and are of human health concerns. Micronuclei (MN arise from abnormalities in nuclear division during mitosis due to a failure of the mitotic spindle or by complex chromosomal configurations that pose problems during anaphase. In order to evaluate the ability of okadaic acid (OA and domoic acid (DA to induce DNA damage we performed the micronucleus assay using the Caco-2 cell line. To discriminate between a clastogenic or aneugenic effect of OA and DA, the micronucleus assay was conducted by cytokinesis-block micronucleus assay using cytochalasin B with Giemsa staining and/or acridine orange staining, in parallel to fluorescence in situ hybridization (FISH using a concentrated human pan-centromeric chromosome paint probe. Our results showed that OA and DA significantly increased the frequency of MN in Caco-2 cells. The MN caused by OA are found in mononucleated cells and binucleated cells, whereas those caused by DA are mainly in binucleated cells. The results of FISH analysis showed that OA induced centromere-positive micronuclei and DA increased the percentage of MN without a centromeric signal. In conclusion, both OA and DA bear mutagenic potential as revealed in Caco-2 cells by induction of MN formation. Moreover, OA induced whole chromosome loss suggesting a specific aneugenic potential, whereas DA seems simply clastogenic. At present, one cannot rule out possible DNA damage of intestinal cells if concentrations studied are reached in vivo, since this may happen with concentrations of toxins just below regulatory limits in case of frequent consumption of contaminated shell fishes.

  6. Inhibin A: marker for diagnosis of ectopic and early abnormal pregnancies.

    Science.gov (United States)

    Segal, Shimon; Gor, Hetal; Correa, Nereida; Mercado, Ray; Veenstra, Korina; Rivnay, Benjamin

    2008-12-01

    A prospective case-control study was performed to determine whether inhibin A concentration is a clinically useful marker of ectopic pregnancy (EP). Inhibin A concentration in patients diagnosed with EP by laparoscopic and pathological findings (n = 17) was compared with that in missed miscarriage (n = 35), incomplete miscarriage (n = 14), spontaneous miscarriage (n = 5), threatened miscarriage (n = 6), normal pregnancy (n = 24) and non-pregnant controls (n = 20). The data were analysed using the Mann-Whitney U-test. EP yielded significantly lower inhibin A concentrations compared with normal pregnancy, 12.7 +/- 11.7 versus 237.3 +/- 125.9 pg/ml (P miscarriage 42.4 +/- 54.9 pg/ml (P miscarriage 47.5 +/- 55.6 pg/ml (P miscarriage 12.2 +/- 10.5 pg/ml (P Threatened miscarriage was not statistically different to normal pregnancy (183.1 +/- 119.4 pg/ml). Human chorionic gonadotrophin concentrations in EP were not statistically significantly different compared with missed miscarriage and incomplete miscarriage. In conclusion, serum inhibin A concentration may be a reliable marker of EP. PMID:19079962

  7. Chromosomal abnormalities in clinical psychiatry: a report of two older patients

    Directory of Open Access Journals (Sweden)

    W.M.A. Verhoeven

    2007-09-01

    Full Text Available Background and Objectives: In clinical psychiatry genetic anomalies are infrequently part of the differential diagnosis, especially in the elderly. Two case reports are used to illustrate the relevance of a genetic workup for diagnosis, treatment and prognosis. Methods: A female and a male patient, aged 81 and 68 year respectively, were admitted because of psychotic symptoms. Despite their relatively low level of intelligence together with autistic-like behaviour in the female patient and dysmorphias in the male patient, a genetic disorder was previously never considered. Results: In the female patient a balanced translocation between chromosomes X and 19 was found, while in the male patient a mosaic trisomy 8 was demonstrated. Conclusions: Genetic analysis is indicated in patients with autism, lower intelligence, unexplained somatic anomalies and dysmorphias.

  8. FISH技术检测自然流产或死胎死产组织中染色体异常的临床研究%Clinical study of chromosomal abnormality in spontaneous abortion tissue or stillbirth tissue detected by fluorescence in situ hybridization technique

    Institute of Scientific and Technical Information of China (English)

    崔洪艳; 陈叙; 岳天孚

    2011-01-01

    Objective; To explore the total incidence of chromosomal abnormality, types of chromosomal abnormality and incidences of various chromosomal abnormalities in spontaneous abortion tissue or stillbirth tissue. Methods; Centromere probes of 18, X and Y chromosomes and single sequence probes of 13, 16, 21 and 22 chromosomes were used for fluorescence in situ hybridization (FISH) detection among 100 samples of spontaneous abortion tissue or stillbirth tissue. Results; 55% of spontaneous abortion or stillbirth were caused by fetal chromosomal abnormality; the top three types of chromosomal abnormality were trisomy 16, trisomy 22 and triploid, accounting for 34. 88% , 16. 28% and 11. 63% of the total number of chromosomal abnormality, respectively. Conclusion; Most spontaneous abortion or stillbirth are caused by genetic gene defect, FISH technique can detect aborted fetuses, find chromosomal abnormality rapidly and accurately, provide data for genetic counseling of subsequent pregnancy.%目的:探讨自然流产或死胎死产胎儿组织细胞中染色体异常总发生率及异常种类和各种异常的发生率.方法:采用18号、X和Y染色体着丝粒探针及13、16、21、22号染色体单一序列探针,对100例自然流产或死胎死产胎儿组织进行FISH检测.结果:55%的自然流产或死胎死产是由胎儿染色体异常引起的;染色体异常的前3位为16-三体综合征、22-三体综合征和三倍体,分别占染色体异常总发生数的34.88%、16.28%和11.63%.结论:自然流产或死胎死产多由遗传基因缺陷引起,应用FISH技术检测流产胚胎,可以快速、准确发现较常见的染色体异常,为下一胎妊娠进行遗传咨询提供资料.

  9. Analyses the effect of inheritance of sex chromosome abnormal karyotype of the 97 cases patients%97例性染色体核型异常的细胞遗传学分析

    Institute of Scientific and Technical Information of China (English)

    李强; 聂玲; 刘忠强; 王洪强; 王沛涛; 刘芝军

    2013-01-01

    Objective; Discuss sex chromosome effect of sex chromosome abnormal karyotype Methods; Analyses the chromosome karyotype of patient who suffer from ill pregnancy, a men orrhvea, small testicle syndrome, abnormal quality of sperm, barrenness pudendum hypogenesis etc. According to the routine method. Result; 97 patients of sex chromosome abnormal karyotype are detected, there are eighteen types, totally in them. There are 29 cases of big Y chromosome. Accounting for 29. 90% of abnormal karyotypye, 21 cases, 45,XO, accounting for 21.65%. 17 cases 47,XXY, 17.53%, 8 cases 46, X, I (Xq) and 11 case, other sorts of type 11. 34%. The major clinical effects are devined. There are 48 cases of primary amenorrhea and Turner's syndrome, accounting for 46. 45% of sex chromosome abnormal karyotypyepatient. 9 cases small testical syndrome 19. 59% , 16 cases abortion over twice times, 16. 49% , 8 cases, ill delivery history, 8. 25%. 4 cases pudendum malformation 4. 12% , 1 cases, secondary amenorrhea, 1. 03%. Conclusion; Cytogenetic researches show that sex chromosome is one of the major cause of abnormal sexual development and genital.%目的 探讨性染色体核型异常的细胞遗传学效应.方法 对有不良妊娩史、闭经、小睾丸综合症、精液质量异常、不孕症和外生殖器发育不良等患者按常规方法进行染色体核型分析.结果 检出性染色体核型异常患者97例,共18种类型,其中大Y(Y≥18) 29例,占异常核型的29.90%;45,XO 21例,占21.65%; 47,XXY 17例,占17.53%;46,X,i (Xq)和45,XO/46,X,i(Xq)各8例,各占8.25%; 46,XX/45,XO 3例,占3.09%;其他类型11例,占11.34%.主要临床表现分为:原发性闭经及Turner综合征48例,占性染色体核型异常患者的48.45%;小睾丸综合症19例,占19.59%;流产2次及以上患者16例,占16.49%;不良产史8例,占8.25%;外生殖器发育畸形4例,占4.12%;继发性闭经和隐睾各1例,分别占1.03%.结论 细胞遗传学研究表明

  10. Surface antigen expression in chronic lymphocytic leukemia: clustering analysis, interrelationships and effects of chromosomal abnormalities.

    Science.gov (United States)

    Hulkkonen, J; Vilpo, L; Hurme, M; Vilpo, J

    2002-02-01

    Chronic lymphocytic leukemia (CLL) is a phenotypically distinguishable form of B-lymphoid leukemias. The regularity of surface membrane antigen expression patterns, their interrelationships as well as the effects of the three frequent chromosomal aberrations, ie 11q deletion, 13q deletion and trisomy 12, were investigated in 35 classic CLL cases by flow cytometry. The two-way cluster analysis of 31 individual antigens revealed three expression patterns: (1) most cells in most cases positive (CD5, CD19, CD20, CD23, CD27, CD40, CD45, CD45RA); (2) most cells in most cases negative (CD10, CD14, CD34, CD122, CD154, mIgG); and (3) a mixed pattern with a variable number of positive cases and a variable percentage of positive cells in individual cases (CD11c, CD21, CD22, CD25, CD38, CD45RO, CD79b, CD80, CD95, CD124, CD126, CD130, FMC7, mIgD, mIgkappa, mIglambda, mIgM). The expressions of several antigens were strongly interdependent, even when antigens belonged to entirely different gene families. Such antigen pairs were: CD11c/CD21; CD19/CD45; CD19/CD79b; CD22/CD45RA; CD23/Igkappa; CD25/mIgM; CD27/CD45; CD45/CD79b; CD45RA/Igkappa. In contrast, the expression of some antigens was mutually exclusive, the best examples being CD45RA/CD45RO, CD38/CD80 and CD45RA/CD80. Deletion of chromosome arm 11q attenuated expression of splicing variant CD45RA, but enhanced CD45RO expression. In contrast, cases of trisomy 12 were associated with enhanced CD45RA and attenuated CD45RO expression. Similarly, trisomy 12 was associated with enhanced CD27 and mIgkappa expression. The variable levels of signaling surface membrane antigens, their interactions and interference by genetic aberrations are likely to affect the clinical progression and drug response of CLL. PMID:11840283

  11. Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report

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    Rongen Michel A

    2009-07-01

    Full Text Available Abstract Background Complex chromosomal rearrangements (CCR are rare cytogenetic findings that are difficult to karyotype by conventional cytogenetic analysis partially because of the relative low resolution of this technique. High resolution genotyping is necessary in order to identify cryptic imbalances, for instance near the multiple breakpoints, to explain the abnormal phenotype in these patients. We applied several molecular techniques to elucidate the complexity of the CCRs of two adult patients with abnormal phenotypes. Results Multicolour fluorescence in situ hybridization (M-FISH showed that in patient 1 the chromosomes 1, 10, 15 and 18 were involved in the rearrangement whereas for patient 2 the chromosomes 5, 9, 11 and 13 were involved. A 250 k Nsp1 SNP-array analysis uncovered a deletion in chromosome region 10p13 for patient 1, harbouring 17 genes, while patient 2 showed no pathogenic gains or losses. Additional FISH analysis with locus specific BAC-probes was performed, leading to the identification of cryptic interstitial structural rearrangements in both patients. Conclusion Application of M-FISH and SNP-array analysis to apparently balanced CCRs is useful to delineate the complex chromosomal rearrangement in detail. However, it does not always identify cryptic imbalances as an explanation for the abnormal phenotype in patients with a CCR.

  12. Clinical effect of increasing doses of lenalidomide in high-risk myelodysplastic syndrome and acute myeloid leukemia with chromosome 5 abnormalities

    DEFF Research Database (Denmark)

    Möllgård, Lars; Saft, Leonie; Treppendahl, Marianne Bach;

    2011-01-01

    Patients with chromosome 5 abnormalities and high-risk myelodysplastic syndromes or acute myeloid leukemia have a poor outcome. We hypothesized that increasing doses of lenalidomide may benefit this group of patients by inhibiting the tumor clone, as assessed by fluorescence in situ hybridization...

  13. Clinical effect of increasing doses of lenalidomide in high-risk myelodysplastic syndrome and acute myeloid leukemia with chromosome 5 abnormalities

    DEFF Research Database (Denmark)

    Möllgård, Lars; Saft, Leonie; Treppendahl, Marianne Bach;

    2011-01-01

    Background Patients with chromosome 5 abnormalities and high-risk myelodysplastic syndromes or acute myeloid leukemia have a poor outcome. We hypothesized that increasing doses of lenalidomide may benefit this group of patients by inhibiting the tumor clone, as assessed by fluorescence in situ hy...

  14. Maternal vitamin B12 deficiency and abnormal cell-free DNA results in pregnancy

    NARCIS (Netherlands)

    Schuring-Blom, Heleen; Lichtenbelt, Klaske; van Galen, Karin; Elferink, Martin; Weiss, Marjan; Vermeesch, Joris Robert; Page-Christiaens, Lieve

    2016-01-01

    What's Already Known about this Topic? Prenatal testing with cell-free DNA may incidentally identify maternal genetic anomalies and malignancies. What does this Study Add? Profound vitamin B12 deficiency with intramedullary hemolysis may cause abnormal genomic patterns that can be detected by cell-f

  15. 3156例生殖异常患者的染色体核型异常分析%Analysis of chromosome abnormities in 3 156 patients with reproduction abnormalities

    Institute of Scientific and Technical Information of China (English)

    陈春; 李运星; 秦胜芳; 魏萍; 曾兰; 邓艺; 伍志灵; 叶梦玲

    2015-01-01

    目的:探讨生殖异常与染色体异常的关系。方法回顾性分析2008年8月至2014年8月四川省妇幼保健院就诊的3156例生殖异常患者的染色体核型及临床资料。结果 3156例生殖异常患者中,检出染色体异常核型82例,核型异常率为2.6%。其中非同源染色体平衡易位30例(36.59%)、性染色体数目异常28例(34.15%)、罗伯逊易位12例(14.63%)、其他染色体异常12例(14.63%)。从临床表现看,妊娠胎儿丢失患者、不孕不育患者、胎儿畸形及出生缺陷患者染色体异常率分别为3.26%(53/1625)、2.02%(25/1235)、1.35%(4/296)。结论生殖异常与染色体异常有关,对生殖异常患者进行染色体检查是必要的。%Objective To discuss the relationship between reproduction abnormality and chromosome abnormity .Methods Chromosome karyotypes and clinical data of 3 156 patients with reproduction abnormalities in Sichuan Provincial Maternity and Child Health Hospital from Aug 2008 to Aug 2014 were retrospectively analyzed .Results Among the 3 156 patients with reproduction abnormalities ,82 cases of abnormal karyotypes were detected , The incidence rate of chromosomal abnormity was 2.6%, 30 cases (36.59%) were the balance of autosomal translocation , 28 cases (34.15%) were sex chromosome aneuploidy , 12 cases (14.63%) were robertsonian translocation , 12 cases ( 14.63%) were other chromosome abnormities .As to the clinical manifestations , the chromosomal abnormity rate of miscarriage , infertility, fetal malformation and birth defect were 3.26% (53/1 625), 2.02% (25/1 235), 1.35% (4/296) respectively.Conclusion Reproductive abnormalities are associated with chromosome abnormities .It is necessary for patients with reproductive abnormalities to take chromosome examination .

  16. Clinical significant evaluation of the inversion abnormality of chromosome on the fertile dysfunction%生育障碍患者中染色体倒位核型的特点及临床分析

    Institute of Scientific and Technical Information of China (English)

    陈亮; 鞠慧岩; 薛晴; 左文莉; 徐阳; 付杰; 贺占举; 于丽; 齐雯; 潘虹; 陈菲; 张娜; 王玲

    2014-01-01

    Objectives:To analyze the clinical significance of the inversion abnormality of chromosome on the adverse pregnancy events.Methods:Cytogenetics of patients was examined by culturing peripheral-blood lym-phocyte and G-banding technology,and karyotyping analysis technique was used to study the relationship between the chromosomal inversion abnormality and the fertile dysfunction in 1408 couples with adverse pregnancy outcome. Results:Among 2816 cases with adverse pregnancy events,31cases (16 male and 15 female)were found with chromosomal inversion abnormality,and the abnormal rate was 1.10%.There was no significant difference in the abnormal rate of chromosomal inversion between the different genders (male:1.13%,female:1.06%,P>0.05). 25 cases with inv (9)were detected and the detectable rate was 0.89%(25/2816).The other types of inversion abnormality included:one case with inv (6)(q11q21),one case inv (7)(p15q36),one case with inv (18) (p11q21),one case with inv (1)(q34q22),one case with inv(X)(p22q26)and one case with inv (10) (q12q22).The clinical symptoms of inversion abnormality were miscarriage,embryonic diapause,fetal anomalies and et al.Conclusion:During the inversion abnormality related to the fertile dysfunction couples,inv (9 )is the most common type.Inv (9)maybe have some potential effect on the adverse pregnancy events.There is no signifi-cant difference of the detectable rate of inversion abnormality between the different genders.Therefore,the couples with adverse pregnancy outcome should both receive cytogenetically examination at the same time.Possibly,the PGD and ICSI may be helpful to the patients with the inversion abnormality,but the detailed issues need to be fur-ther investigated.%目的:分析及总结生育障碍患者中染色体倒位核型的特点及临床意义。方法:临床分析不良妊娠结局夫妇双方的外周血染色体核型,对男方及女方不同性别间染色体异常的检出率进行比较并进

  17. Epstein-Barr virus BGLF4 kinase retards cellular S-phase progression and induces chromosomal abnormality.

    Directory of Open Access Journals (Sweden)

    Yu-Hsin Chang

    Full Text Available Epstein-Barr virus (EBV induces an uncoordinated S-phase-like cellular environment coupled with multiple prophase-like events in cells replicating the virus. The EBV encoded Ser/Thr kinase BGLF4 has been shown to induce premature chromosome condensation through activation of condensin and topoisomerase II and reorganization of the nuclear lamina to facilitate the nuclear egress of nucleocapsids in a pathway mimicking Cdk1. However, the observation that RB is hyperphosphorylated in the presence of BGLF4 raised the possibility that BGLF4 may have a Cdk2-like activity to promote S-phase progression. Here, we investigated the regulatory effects of BGLF4 on cell cycle progression and found that S-phase progression and DNA synthesis were interrupted by BGLF4 in mammalian cells. Expression of BGLF4 did not compensate Cdk1 defects for DNA replication in S. cerevisiae. Using time-lapse microscopy, we found the fate of individual HeLa cells was determined by the expression level of BGLF4. In addition to slight cell growth retardation, BGLF4 elicits abnormal chromosomal structure and micronucleus formation in 293 and NCP-TW01 cells. In Saos-2 cells, BGLF4 induced the hyperphosphorylation of co-transfected RB, while E2F1 was not released from RB-E2F1 complexes. The E2F1 regulated activities of the cyclin D1 and ZBRK1 promoters were suppressed by BGLF4 in a dose dependent manner. Detection with phosphoamino acid specific antibodies revealed that, in addition to Ser780, phosphorylation of the DNA damage-responsive Ser612 on RB was enhanced by BGLF4. Taken together, our study indicates that BGLF4 may directly or indirectly induce a DNA damage signal that eventually interferes with host DNA synthesis and delays S-phase progression.

  18. Karyotypes, B-chromosomes and meiotic abnormalities in 13 populations of Alebra albostriella and A. wahlbergi (Hemiptera, Auchenorrhyncha, Cicadellidae from Greece

    Directory of Open Access Journals (Sweden)

    Valentina Kuznetsova

    2013-11-01

    Full Text Available In this work 13 populations of the leafhopper species Alebra albostriella (Fallén, 1826 (6 populations and A. wahlbergi (Boheman, 1845 (7 populations (Cicadellidae: Typhlocybinae from Greece were studied cytogenetically. We examined chromosomal complements and meiosis in 41 males of A. albostriella sampled from Castanea sativa, Fagus sylvatica and Quercus cerris and in 21 males of A. wahlbergi sampled from C. sativa, Acer opalus and Ulmus sp. The species were shown to share 2n = 22 + X(0 and male meiosis of the chiasmate preductional type typical for Auchenorrhyncha. In all populations of A. albostriella and in all but two populations of A. wahlbergi B chromosomes and/or different meiotic abnormalities including the end-to-end non-homologous chromosomal associations, translocation chains, univalents, anaphasic laggards besides aberrant sperms were encountered. This study represents the first chromosomal record for the genus Alebra and one of the few population-cytogenetic studies in the Auchenorrhyncha.

  19. Karyotypes, B-chromosomes and meiotic abnormalities in 13 populations of Alebra albostriella and A. wahlbergi (Hemiptera, Auchenorrhyncha, Cicadellidae) from Greece.

    Science.gov (United States)

    Kuznetsova, Valentina G; Golub, Natalia V; Aguin-Pombo, Dora

    2013-11-26

    In this work 13 populations of the leafhopper species Alebra albostriella (Fallén, 1826) (6 populations) and A. wahlbergi (Boheman, 1845) (7 populations) (Cicadellidae: Typhlocybinae) from Greece were studied cytogenetically. We examined chromosomal complements and meiosis in 41 males of A. albostriella sampled from Castanea sativa, Fagus sylvatica and Quercus cerris and in 21 males of A. wahlbergi sampled from C. sativa, Acer opalus and Ulmus sp. The species were shown to share 2n = 22 + X(0) and male meiosis of the chiasmate preductional type typical for Auchenorrhyncha. In all populations of A. albostriella and in all but two populations of A. wahlbergi B chromosomes and/or different meiotic abnormalities including the end-to-end non-homologous chromosomal associations, translocation chains, univalents, anaphasic laggards besides aberrant sperms were encountered. This study represents the first chromosomal record for the genus Alebra and one of the few population-cytogenetic studies in the Auchenorrhyncha. PMID:24455103

  20. Chromosomal Aneuploidies and Early Embryonic Developmental Arrest

    Directory of Open Access Journals (Sweden)

    Maria Maurer

    2015-07-01

    Full Text Available Background: Selecting the best embryo for transfer, with the highest chance of achieving a vital pregnancy, is a major goal in current in vitro fertilization (IVF technology. The high rate of embryonic developmental arrest during IVF treatment is one of the limitations in achieving this goal. Chromosomal abnormalities are possibly linked with chromosomal arrest and selection against abnormal fertilization products. The objective of this study was to evaluate the frequency and type of chromosomal abnormalities in preimplantation embryos with developmental arrest. Materials and Methods: This cohort study included blastomeres of embryos with early developmental arrest that were biopsied and analyzed by fluorescence in-situ hybridization (FISH with probes for chromosomes 13, 16, 18, 21 and 22. Forty-five couples undergoing IVF treatment were included, and 119 arrested embryos were biopsied. All probes were obtained from the Kinderwunsch Zentrum, Linz, Austria, between August 2009 and August 2011. Results: Of these embryos, 31.6% were normal for all chromosomes tested, and 68.4% were abnormal. Eleven embryos were uniformly aneuploid, 20 were polyploid, 3 were haploid, 11 displayed mosaicism and 22 embryos exhibited chaotic chromosomal complement. Conclusion: Nearly 70% of arrested embryos exhibit chromosomal errors, making chromosomal abnormalities a major cause of embryonic arrest and may be a further explanation for the high developmental failure rates during culture of the embryos in the IVF setting.

  1. Immunosuppressive activity of human amniotic fluid of normal and abnormal pregnancies.

    Science.gov (United States)

    Shohat, B; Faktor, J M

    1988-01-01

    Twenty specimens of amniotic fluid (AF) obtained between week 16 and 18 of gestation from normal pregnant women and six specimens from pregnant women in which trisomia of chromosome 21 was found were tested for immunosuppressive activity. Incubation of normal human donor lymphocytes with 0.2-1 mL of AF from normal pregnant women for one hour at 37 degrees C was sufficient for induction of significant inhibition of the ability of these cells to induce a local xenogeneic graft-versus-host reaction (GVHR) as well as inhibition of E and E-active rosette formation, the GVHR being the most sensitive test. On the other hand, amniotic fluid obtained from the six pregnant women in which trisomia of chromosome 21 was found showed no inhibitory activity in either the E or E-active rosette formation, nor in the local xenogeneic graft-versus-host reaction. AF from all the women tested was found to have no effect on phenotype expression of the lymphocytes, as tested by the monoclonal antibodies OKT4+ and OKT8+, nor on B-lymphocytes, as tested by surface immunoglobulins. No correlation was found between the alpha-fetoprotein levels in the sera of those women and the immunosuppressive activity. These findings indicate that genetic defects of the conceptus are not limited to the embryo but may affect the composition of immunosuppressive components present in normal amniotic fluid.

  2. 不育男性Y染色体长度异常的精液质量%Effect of abnormality Y chromosome and sperm quality on the result of insisted reproductive techniques

    Institute of Scientific and Technical Information of China (English)

    谢伟; 秦雯; 莫定敢; 陈美佳; 吕福通; 覃爱平

    2016-01-01

    Objective To investigate the effect of abnormality Y chromosome and sperm quality on the clinical result of insisted reproductive technique (ART). Methods We retrospectively analyzed the effect of ab-normality Y chromosome and sperm quality on embryo quality/result of pregnancy of patients undergoing ART. In-fertile men with normality Y chromosome (n=436) and with abnormality Y chromosome (n =146) from Jan 2010 to Dec 2010 were enrolled in this study. The infertile men were divided into four groups: the normality Y chromo-some plus teratozoospermia group , the normality Y chromosome plus normal sperm quality group , the abnormalitychromosome plus teratozoospermia group, the abnormality Y chromosome plus normal sperm quality group. Embryo quality and the results of clinic pregnancy outcome were analyzed among the four groups. Results Fertilization rate of the four groups was 73.4%, 69.0%, 70.9% and 68%, respectively (P < 0.05). No significant differences were found in thecleavage rate, optimal embryo rate and pregnancy outcome among the four groups. Conclusions Both abnormality Y chromosome length and teratozoospermia may be affect the fertility rate of the infertile men undergoing IVF/ICSI.%目的:了解在辅助生殖技术(insisted reproductive techniques,ART)中 Y 染色体长度异常患者的精液质量情况,并按不同精液质量分组,讨论其胚胎质量、临床妊娠结局及意义。方法:通过回顾性分析2010年1月1日至2010年12月31日在中心进行辅助生殖助孕的患者共2739周期,染色体检查682例,其中染色体正常436(63.93%),合并畸形精子症196例,染色体长度异常共146例(Y =22,139例;Y =18,7例),占5.33%,合并畸形精子症73例。将患者分为染色体长度正常组和染色体长度异常组,再分精子形态正常组、精子形态异常组2个亚组,共4组,即染色体长度正常且精子形态正常组(组1),染色体长度正

  3. Photosensitivity and Acute Liver Insufficiency in Late-Onset Erythropoietic Protoporphyria with a Chromosome 18q Abnormality

    Directory of Open Access Journals (Sweden)

    Yuka Oshikawa

    2012-07-01

    Full Text Available Late-onset erythropoietic protoporphyria (EPP is rare, and it is usually associated with an acquired somatic mutation of the ferrochelatase gene secondary to hematological malignancy such as myelodysplastic syndrome or myeloproliferative disorder. In 0.5–1% of patients with EPP, deposition of protoporphyrin in the liver leads to progressive liver insufficiency. Herein, we report the case of a 67-year-old female who developed EPP with typical photosensitivity and hemolytic anemia. Six months later, she was admitted with acute liver damage with a rapidly progressing course, and developed liver insufficiency. She recovered from the liver insufficiency after undergoing plasmapheresis and red blood cell exchange transfusion. A bone marrow examination revealed normal features; however, a cytogenetic analysis identified an abnormal clone of cells with a translocation between chromosomes 13q12 and 18q21.1. This is the first report of a patient who recovered from liver insufficiency. The results of this report suggest that plasmapheresis and red blood cell exchange transfusion are effective for treating liver insufficiency in patients with late-onset EPP.

  4. Pregnancy

    DEFF Research Database (Denmark)

    Palmer, Keith T; Bonzini, Matteo; Bonde, Jens Peter Ellekilde;

    2013-01-01

    Most pregnant women are exposed to some physical activity at work. This Concise Guidance is aimed at doctors advising healthy women with uncomplicated singleton pregnancies about the risks arising from five common workplace exposures (prolonged working hours, shift work, lifting, standing and heavy...... on pregnancy. Moreover, moderate physical exercise is thought to be healthy in pregnancy and most pregnant women undertake some physical work at home. The guidelines provide risk estimates and advice on counselling....

  5. FIRST-TRIMESTER MATERNAL SERUM ALPHA-FETOPROTEIN AS A MARKER FOR FETAL CHROMOSOMAL DISORDERS

    NARCIS (Netherlands)

    VANLITH, JMM

    1994-01-01

    We evaluated first-trimester maternal serum alpha-fetoprotein (MS-AFP) as a marker for fetal chromosomal disorders. The multicentre study was performed under the auspices of the Dutch Working Party on Prenatal Diagnosis. MS-AFP was measured in 2404 normal pregnancies and 72 chromosomally abnormal pr

  6. Fluxo reverso no duto venoso: nova perspectiva na detecção de anomalias cromossômicas Reverse blood flow in ductus venosus: new perspective in detection of chromosomal abnormalities

    Directory of Open Access Journals (Sweden)

    Carlos Geraldo Viana Murta

    1999-08-01

    Full Text Available Objetivo: estudar o duto venoso mediante o emprego do Doppler colorido e pulsátil com a finalidade de rastrear anomalias cromossômicas entre a 10ª e 14ª semanas de gestação. Métodos: a Dopplerfluxometria referente ao duto venoso e a medida da translucência nucal (TN precederam a biopsia de vilo corial em 26 gestações. A suspeita de defeitos cromossômicos baseou-se nos seguintes critérios: fluxo ausente ou reverso durante a contração atrial no duto venoso e translucência nucal maior ou igual a 3 mm. Verificaram-se a sensibilidade, a especificidade, o valor preditivo positivo e o negativo para cada um dos itens acima. Resultados: ocorreram 9 casos de anomalias cromossômicas (3 trissomias do 21, 2 trissomias do 13, 1 trissomia do 9, 1 trissomia do 22, 1 triploidia e 1 monossomia do cromossomo X. Na totalidade dos casos o fluxo no duto venoso, durante a contração atrial, foi ausente (1 caso ou reverso (8 casos, com sensibilidade de 100%. No grupo de fetos normais (17 casos, a avaliação única apresentou alteração no Doppler (especificidade de 94%. Concernente à medida da TN, a sensibilidade e a especificidade foram de 88% e 76%, respectivamente. Conclusão: os resultados preliminares sugerem que a presença de anomalias cromossômicas pode ser fortemente suspeitada quando existir aumento da TN associado a fluxo ausente ou reverso no duto venoso durante a contração atrial. Especulamos que ambos os métodos sejam válidos no rastreamento dos defeitos cromossômicos.Purpose: to evaluate the possible value of pulsed and color Doppler of ductus venosus blood flow in the screening for chromosomal abnormalities at 10-14 weeks of gestation. Methods: the ductus venosus flow velocity waveforms and the nuchal translucency (NT thickness were obtained immediately before the chorionic villus sample in 26 pregnancies. We employed the following criteria for the suspicion of chromosomal defects: reverse or absent flow during atrial

  7. Identification of Novel Chromosomal Abnormalities, inv(5(p13q13 and t(7;18(q32;q21, Associated with Autism

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    Zheng Chen

    2007-01-01

    Full Text Available Autism is a neurodevelopmental disorder defined by impairments in social interaction, communication, as well as restricted and stereotyped behaviors. While the etiology of autism remains largely unknown, the existence of genetic components has been clearly demonstrated in autistic pathogenesis. The incidence of autism is 50-100 fold greater in the population with autistic family history than the general population. Chromosomal abnormalities in 15q11-13 and 7q22-32 regions have been frequently detected in autistic patients. Abnormalities in other chromosomal regions, including 14q32.3 deletion and t(5;18(q33.1;q12.1 translocation, have also been reported. Despite these progresses, the exact genetic changes which underlie the disorder remain elusive. We report here two novel chromosomal abnormalities, an inversion inv(5(p13;q13 and a translocation t(7;18(q32;q21 in two autistic children. These findings may help to identify the candidate genes, whose aberrations may contribute to autistic pathogenesis.

  8. Chromosomal regions impacting pregnancy status in Braford, Brangus and Simbrah cattle

    Science.gov (United States)

    We aimed to validate SNP associated with reproductive success in cattle. Cattle were individually genotyped for 73 SNP which were previously identified as significantly associated with reproductive success based on a previous study utilizing DNA pooling. Pregnancy status data were recorded from 200...

  9. 超声检查胎儿颈项透明层厚度在筛查胎儿染色体异常中的价值%Value of nuchal translucency thickening in the fetal chromosome abnormality screening

    Institute of Scientific and Technical Information of China (English)

    孙丽娟; 王欣; 吴青青; 阮焱; 姚芩

    2013-01-01

    translucency(NT) thickening in the fetal chromosome abnormality screening.Methods The 14 881 pregnant women received NT measurement in 11-13 +6 weeks at Beijing Obstetrics and Gynecology Hospital from January 2010 to August 2012.The 118 fetuses whose NT≥2.5 mm were recruited.One hundred and eight (91.5%,108/118)of them accepted invasive procedure and karyotype analysis.Results (1) Chromosome karyotype analysis:113 singleton pregnancies (95.8%) and 5 twin pregnancies (4.2%) whose NT thickened from 2.5 mm to 11.0 mm were advised karyotype analysis.The 108 pregnant women accepted karyotype analysis.Among them,88 had normal chromosome karyotype,and 20 had chromosome abnormalities.The detection rate was 18.5 % (20/108).(2) The sensitivity,specificity,false positive rate,false negative rate,total consistent rate,positive predictive value and negative predictive value of prenatal screening of chromosome abnormalities for NT ≥ 2.5 mm were 44%,99%,1%,56%,99%,19% and 100%,respectively.(3) Among the 88 fetuses who had normal karyotype,72 (82%) had isolated thickened NT,while 16 (18%) had fetal structural malformation or intrauterine demise.(4) Among the 10 pregnant women who did not accept fetal karyotype analysis,8 terminated pregnancy because of fetal structural malformation,and the other 2 fetuses died in uterus.(5)All of the 5 twin pregnancies were dichorionic twins,and one of the twins had thickened NT.Among the 5 twin pregnancies,one fetus was trisomy 21 and others had normal karyotype.3 twin pregnancies who had normal chromosomes gave live birth.And the other had a gastroschisis and exstrophy deformity fetuse.This fetuse died in uterus and remaining fetuse had full-term live birth.(6) 35 (29.7%) pregnant women received second trimester Down's syndrome serum screening.One was high risk and was proved a trisomy 21 pregnancy.Thirty-four were low risk and had normal chromosome karyotype.Conclusion NT thickening may indicate fetal chromosome

  10. 染色体核型异常患者全基因组芯片扫描结果分析%Analysis on the results of chromosomal microarray in patients with chromosome abnormality

    Institute of Scientific and Technical Information of China (English)

    姚如恩; 傅启华; 余永国

    2014-01-01

    目的:利用全基因组芯片扫描技术对染色体核型检测结果异常的患者样本进行重复检测分析,验证并确认患者染色体的具体核型。方法利用基因分型芯片技术对9例临床表型皆为智力落后合并多发畸形,且核型结果异常的样本进行检测分析,比较两种技术之间结果相符程度,通过芯片平台结果来验证染色体核型技术的准确性,同时分析其临床适用性。结果染色体核型结果和全基因组芯片分析技术的结果完全符合的为2例Turner综合征患者,均为嵌合型;3例染色体核型结果阳性患者,全基因组芯片分析结果为阴性,其中2例为随体增加,1例为染色体内倒位;4例涉及染色体片段大小不同的缺失和复制的患者,核型结果和全基因组芯片结果差异较大,并且核型检测结果与患者实际核型相差较大。结论染色体核型技术在用于以往认定的适应症如智力落后、多发畸形的检测中,检测的准确性相对全基因组芯片技术较低,在明确定位染色体缺失和复制大小及位置的能力上有明显的不足,但对于检测染色体平衡性结构性变化的作用不能被芯片所取代。%Objective To analyze the results of patients with chromosome abnormality by chromosomal microarray, and validate and depict patient′s karyotype.Methods Genotyping array was applied to assess in 9 patients with hypophrenia and deformity.The samples with karyotype analysis abnormality were determined.Comparison between karyotyping and microarray analysis was considered to validate the clinical utility of chromosomal microarray analysis. Results Two Turner syndrome patients had completely concordant results from karyotype analysis and chromosomal microarray.Three patients showed abnormal karyotyping results (2 patients with excess trabant and 1 patients with chromosomal inversion) were detected negative with chromosomal microarray

  11. Outcome of Subsequent Pregnancies in Familial Molar Pregnancy

    Directory of Open Access Journals (Sweden)

    Masoumeh Fallahian

    2013-01-01

    Full Text Available Familial recurrent molar pregnancy is an exceedingly rare condition, in which completehydatidiform moles are mostly diploid but biparental in origin and the outcome of subsequentpregnancies is likely to be a hydatidiform mole or other type of reproductiveloss. We previously reported a case of familial molar pregnancy (family K comprisingfive affected members (four sisters and one of their cousins each with at least one hydatidiformmole (HM. In addition to the molar pregnancies, these patients have a total ofthree miscarriages and 8 normal pregnancies leading to healthy children; but the youngestmember of this family has given birth to a boy with Down syndrome.Our second family (case S includes two sisters with diploid biparental complete moles.They have a total of six molar pregnancies with no living child. Recently the younger sisterhad a partial molar pregnancy with apparently normal XX fetus accompanying diffusemolar changes of the placenta that led to preeclampsia and preterm delivery.Overall, these families have had 26 pregnancies including 12 molar pregnancies (completeor partial and three abortions.We concluded that these families are predisposed to various genetic mutations, chromosomalabnormalities and clinical manifestations, which affect their offspring. Furtherstudies of patients are needed to determine any relationship between a history of familialmolar pregnancy and trisomy or other chromosomal abnormalities in offspring and geneticmutations in the products of conception to complete the puzzle and manage familialmolar pregnancy.

  12. Chromosome abnormalities and Y chromosome microdeletions in patients with the azoospermia and cryptozoospermia%无精症及隐匿精子症患者染色体核型与Y染色体微缺失分析

    Institute of Scientific and Technical Information of China (English)

    刘兴章; 唐运革; 郑立新; 周冰燚; 刘晃; 李铭臻; 唐立新; 文任乾

    2010-01-01

    目的 研究无精症和隐匿精子症染色体核型与Y染色体无精因子(azoospermia factor,AZF)微缺失的发生频率及其关系.方法 对997例无精症和隐匿精子症患者进行常规染色体核型分析及多重聚合酶链反应技术检测AZF位点.结果 在997例无精症和隐匿精子症患者中,染色体核型异常检出率28.4%,异常核型包括47,XXY、46,XY(Y<G)、46,XX、嵌合体及相互易位等.AZF微缺失总检出率17.4%.常见于46,XY及46,XY(Y<G)等核型.结论 染色体核型异常是无精症和隐匿精子症的重要遗传病因.正常核型与Y<G患者中存在较高的AZF微缺失率,对这些患者进行AZF微缺失检查有助于明确病因,避免一些不必要的临床治疗及遗传缺陷的垂直传递.%Objective To study the incidence of the chromosome abnormalities and Y chromosome microdeletions in Chinese patients with azoospermia and cryptozoospermia. Methods Conventional chromosomal karyotyping was used to analyze the chromosome abnormalities. Genomic DNA was extracted from peripheral blood samples and multiplex polymerase chain reactions (PCR) analyses were performed using specific primers to confirm the presence or absence of Y chromosome microdeletions. A total of 997 patients with azoospermia and cryptozoospermia were enrolled in the study. Results The incidence of chromosome abnormalities in the patient with azoospermia and cryptozoospermia was 28.4%. The major abnormal karyotypes included 47, XXY, 46, XY (Y < G), 46, XX, chimera and translocations. The incidence of the Y chromosome microdeletions was 17.4%. They were mainly found in the karyotypes of 46,XY and 46, XY (Y< G). Conclusion Chromosome abnormalities were the most common hereditary causes of the patients with azoospermia and cryptozoospermia. The incidence of Y chromosome microdeletion was higher in the patients with karyotype of 46 ,XY and 46 ,XY (Y<G). Therefore, detection of the AZF microdeletion in these patients is

  13. Four small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: a case report

    Directory of Open Access Journals (Sweden)

    Hamid Ahmed B

    2010-08-01

    Full Text Available Abstract Introduction Small supernumerary marker chromosomes are still a problem in cytogenetic diagnostic and genetic counseling. This holds especially true for the rare cases with multiple small supernumerary marker chromosomes. Most such cases are reported to be clinically severely affected due to the chromosomal imbalances induced by the presence of small supernumerary marker chromosomes. Here we report the first case of a patient having four different small supernumerary marker chromosomes which, apart from slight developmental retardation in youth and non-malignant hyperpigmentation, presented no other clinical signs. Case presentation Our patient was a 30-year-old Caucasian man, delivered by caesarean section because of macrosomy. At birth he presented with bilateral cryptorchidism but no other birth defects. At age of around two years he showed psychomotor delay and a bilateral convergent strabismus. Later he had slight learning difficulties, with normal social behavior and now lives an independent life as an adult. Apart from hypogenitalism, he has multiple hyperpigmented nevi all over his body, short feet with pes cavus and claw toes. At age of 30 years, cytogenetic and molecular cytogenetic analysis revealed a karyotype of 50,XY,+min(6(:p11.1-> q11.1:,+min(8(:p11.1->q11.1:,+min(11(:p11.11->q11:,+min(12(:p11.2~12->q10:, leading overall to a small partial trisomy in 12p11.1~12.1. Conclusions Including this case, four single case reports are available in the literature with a karyotype 50,XN,+4mar. For prenatally detected multiple small supernumerary marker chromosomes in particular we learn from this case that such a cytogenetic condition may be correlated with a positive clinical outcome.

  14. 二代测序技术检测早期自然流产胚胎染色体异常%Detection of chromosome abnormality by next-generation sequencing technology of miscarried embryo in the first-trimester

    Institute of Scientific and Technical Information of China (English)

    刘丽; 徐凤琴; 邸建永; 刘清华; 李毅

    2015-01-01

    Objective To investigate the clinical values of next-generation sequencing (NGS) technology in diagnosis of miscarried chorionic villi genetic disorders. Methods Patients who underwent miscarriage (n=87) were enrolled in this study. Among all patients, 32 cases were of recurrent miscarrage and 55 cases were of sporadic miscarriage. In all collected patients, 35 women were 35 years or older while other 52 women were less than 35 years old. Positive detection rate and the abnormal detection rate were compared between these two methods. Chromosomes abnormal rates were also compared among different types of miscarrage and different ages. All aborted villi tissue were analyzed by NGS of whole genome and G-band⁃ing karyotype. Results The successful detection rate of chorionic villi by NGS (100.00%) was higher than that of G-band⁃ing karyotype (74.71%), and the detection rate of abnormal chorionic villi by NGS (58.62%) was also higher than that of G-banding karyotype (50.77%). Three cases of chromosome structure anomaly were found in those 51 chromosome anomalies (5.88%). Other 48 cases of chromosome anomalies were aneuploidy anomalies (94.12%) include 39 cases of trisomy, 2 cases of double trisomy and 1 case of triple trisomy and 6 cases of monomer. On the other hand, 32 cases of chromosome aneuploi⁃dy anomalies were found in 33 chromosome anomalies by G-banding karyotype, which include 24 cases of trisomy, 2 cases of double trisomy, 1 case of triple trisomy, 5 cases of monomer and 1 case of chromosome structure anomaly. Most NGS re⁃sults (n=64) were in agreement with G-banding karyotype but with 1 case of discrepancy. Chromosomal abnormality rate de⁃tected by NGS in sporadic miscarrage group and recurrent spontaneous miscarrage group were 60.00%and 56.25%respective⁃ly. There was no significant difference (P>0.05). Chromosomal abnormality rate picked by NGS in women aged≥35 years old (71.43%) was higher than that in women<35 years old (50.00%) with

  15. Incidence of chromosome abnormalities at a second-trimester genetic amniocentesis for Mainland Chinese women of advanced maternal age: a study of 6, 584 cases

    Institute of Scientific and Technical Information of China (English)

    Qi Qing-wei; Jiang Yu-lin; Zhou Xi-ya; Liu Jun-tao; Bian Xu-ming

    2012-01-01

    Objective: The aim of this study was to calculate the expected incidence of chromosomal aneuploidy at second trimester genetic amniocentesis in Mainland China in women aged 35 and older.Methods: We reviewed the genetic amniocenteses data in Peking Union Medical College Hospital between January 2001 to June 2011.The indication for genetic amniocentesis was solely advanced maternal age (AMA).A total of 6,584 cases were included in this study.The AMA women was divided into two groups by maternal age,the group of 35-39 years old and the group of ≥40 years old.The incidence of fetal Down syndrome was compared between the two groups by chi-square test.Results: A total of 121 cases were diagnosed to be chromosomally abnormal,giving an overall incidence of 18.38‰ (121/6,584).The abnormal karyotypes included 111 cases of various aneuploidies and 10 cases with various structural abnormalities.The aneuploidies(mosaicism included)were 59 cases of (47,+ 21),25 cases of (47,+ 18),2 cases of (47,+ 13),8 cases of (45,X),3 cases of (47,XXX),13 cases of (47,XXY) and 1 case of (47,XYY).The karyotype of (47,+21) was the most frequent chromosomal abnormality,with an overall incidence of 8.96‰,account for 53.1% of all aneuploidies.Sex chromosome aneuploidies were the next most common,with a total incidence of 3.80‰.The incidence of fetal Down syndrome was significantly higher in the group of ≥40 years old than that of the group of 35-39 years old (P=0.047).Conclusions: The incidence of chromosomal aneuploidy found in this study is the first data published for Mainland China and will be helpful for the counseling of pregnant women in this age group.Consideration may be given to prenatal screening versus prenatal diagnosis in women of advanced maternal age in Mainland China.

  16. Pregnancy

    DEFF Research Database (Denmark)

    Palmer, Keith T; Bonzini, Matteo; Bonde, Jens Peter Ellekilde;

    2013-01-01

    Most pregnant women are exposed to some physical activity at work. This Concise Guidance is aimed at doctors advising healthy women with uncomplicated singleton pregnancies about the risks arising from five common workplace exposures (prolonged working hours, shift work, lifting, standing and heavy...... physical workload). The adverse outcomes considered are: miscarriage, preterm delivery, small for gestational age, low birth weight, pre-eclampsia and gestational hypertension. Systematic review of the literature indicates that these exposures are unlikely to carry much of an increased risk for any...... on pregnancy. Moreover, moderate physical exercise is thought to be healthy in pregnancy and most pregnant women undertake some physical work at home. The guidelines provide risk estimates and advice on counselling....

  17. Association of Chromosomal Abnormalities and Fetus with Multiple Malformations%胎儿多发畸形与染色体异常的相关性分析

    Institute of Scientific and Technical Information of China (English)

    谢英俊; 方群; 吴坚柱; 陈宝江; 陈健生; 陈筠虹; 陈争

    2011-01-01

    [目的]探讨多发畸形胎儿的产前诊断特征及其与染色体异常的关系.[方法]对853例产前诊断胎儿进行研究,根据超声检测检出多发畸形与否,分为多发畸形组(n=103)及非畸形组(对照组,n=750),行常规染色体核型分析;收集相关临床资料:分析胎儿畸形超声发现时期、畸形类别、畸形数目、染色体异常率和异常类型以及染色体异常与多发畸形的相关性.[结果]两组胎儿比较,染色体异常率(多发畸形组43.69%,对照组0.93%),性别比(多发畸形组1.94,对照组0.97),产前诊断孕周[多发畸形组(25±5)周,对照组(21±4)周],差异均有统计学意义(P<0.05).超声发现胎儿畸形数目越多,胎儿染色体异常的风险越大(r=0.792,P=0.017).多变量统计学分析的结果提示超声检出胎儿的面颈部异常(OR=7.748,P=0.000)、心血管系统异常(OR=5.064,P=0.002)、泌尿系统畸形(OR=0.195,P=0.005)、单脐动脉(OR=4.608,P=0.020)与多发畸形胎儿的染色体异常相关.[结论]多发畸形胎儿染色体异常率高;在超声对多发畸形胎儿检测中,胎儿的面颈部异常、心血管系统异常、单脐动脉可能可以作为胎儿染色体异常的预测指标.%[Objective] To investigate the multiple characteristics of fetal malformation in prenatal diagnosis and its relationship with chromosomal abnormalities. [Methods] A total of 853 cases were divided into multiple malformations group (n = 103) and nonmalformation group (control group,n = 750) according to ultrasound detected multiple malformations or not. Collecting clinical data:the discovery of fetal malformations time, the number of deformities, the abnormal types and rates of chromosome abnormalities and outcomes of karyotypes associated malformations. [ Results ] Comparing the results of two groups, the fetal chromosomal abnormality rate (multiple malformations group 43.69%, 0.93% in control group), the sex ratio (multiple malformations group 1

  18. Structural chromosomal mosaicism and prenatal diagnosis.

    Science.gov (United States)

    Pipiras, E; Dupont, C; Chantot-Bastaraud, S; Siffroi, J P; Bucourt, M; Batallan, A; Largillière, C; Uzan, M; Wolf, J P; Benzacken, B

    2004-02-01

    True structural chromosomal mosaicism are rare events in prenatal cytogenetics practice and may lead to diagnostic and prognostic problems. Here is described the case of a fetus carrying an abnormal chromosome 15 made of a whole chromosome 2p translocated on its short arm in 10% of the cells, in association with a normal cell line. The fetal karyotype was 46,XX,add(15)(p10).ish t(2;15)(p10;q10)(WCP2+)[3]/46,XX[27]. Pregnancy was terminated and fetus examination revealed a growth retardation associated with a dysmorphism including dolichocephaly, hypertelorism, high forehead, low-set ears with prominent anthelix and a small nose, which were characteristic of partial trisomy 2p. Possible aetiologies for prenatal mosaicism involving a chromosomal structural abnormality are discussed. PMID:14974115

  19. Chromosomal aberrations as etiological factors of intrauterine growth retardation

    OpenAIRE

    Petrović Bojana; Ljubić Aleksandar; Nikolić Ljubinka

    2008-01-01

    Background/Aim. Intrauterine growth retardation (IUGR) is a pathological condition of pregnancy characterised by birth weight below the 10th centile. A number of fetal, placental and maternal causes can lead to IUGR; although, in most cases no specific causes can be identified. The aim of this study was to determine the part of chromosomal abnormalities in IUGR etiology. Methods. Fetal blood karyotype taken by cordocentesis from 168 fetuses with diagnosed IUGR was analyzed. Results. Chromosom...

  20. Chromosomal abnormalities with male infertility%染色体异常与男性不育关系的研究

    Institute of Scientific and Technical Information of China (English)

    董媛; 姜雨婷; 杜日成; 武婧; 李磊磊; 刘睿智

    2013-01-01

    目的 探讨不同类型染色体异常对男性不育的影响. 方法 对2006年5月至2012年5月吉林大学第一医院生殖医学中心进行遗传咨询的2034例男性不育患者行染色体检查,同时行精液常规检查和生殖激素检测. 结果 2034例男性不育患者中检出染色体核型异常267例,检出率为13.13%.267例患者中行精液常规检查258例,其中无精子症190例,少精子症58例,精液正常10例.267例患者包括染色体数目异常169例(63.30%),以无精子症为主,其中克氏综合征157例(58.80%),超雄综合征7例(2.62%),特纳综合征4例(1.50%),mar染色体1例(0.37%);结构异常49例(18.35%),以少精子症为主,其中染色体易位32例(11.99%),倒位17例(6.37%);性反转4例(1.50%),均为无精子症;染色体多态45例(16.85%),以少精子症为主.对不同精液结果的非嵌合型克氏综合征患者年龄、睾丸体积、精液量及血清生殖激素进行比较,仅年龄差异有统计学意义(P<0.05). 结论 染色体异常是造成男性精液异常、导致男性不育的重要遗传学病因,对男性不育患者行染色体检查是必要的.%Objective To describe different types of chromosomal abnormalities on male infertility.Methods From May 2006 to May 2012,2034 infertile males with genetic counseling underwent chromosome karyotype analysis,semen routine examination and reproductive hormones levels detection.The data from them were analyzed.Results 267 cases of chromosomal abnormalities were detected in 2034 cases (13.13%).258 cases underwent semen routine examination in 267 cases with chromosomal abnormalities,of which 190 cases of azoospermia,58 cases of oligozoospermia,10 cases of semen normal.In 267 cases of chromosomal abnormalities,including 169 cases (63.30%) of number abnormalities,mainly with azoospermia,157 cases of Klinefelter syndrome (KS) (58.80%),7 cases of 47,XYY (2.62%),4 cases of Turner syndrome (1.50%),1 case of

  1. Robertsonian translocation between chromosomes (no.21/14) in relation to the history of spontaneous abortion in a family

    OpenAIRE

    Mohammad Hasanzadeh-NazarAbadi; Fatemeh Baghbani; Iman Namazi; Salmeh Mirzaee

    2014-01-01

    Background: Approximately 205 million pregnancies occur each year in the worldwide. On the other hand, Spontaneous abortion has been reported in 15-20% of all diagnosed pregnancies. The most common cause of spontaneous abortion is chromosomal abnormalities of the embryo. Robertsonian translocation carriers specially 21-14 are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. In order to search for balanced chromosomal rearrangement and ...

  2. Pericentric inversion of chromosome 11 (p14.3q21) associated with developmental delays, hypopigmented skin lesions and abnormal brain MRI findings - a new case report

    Energy Technology Data Exchange (ETDEWEB)

    Zachor, D.A.; Lofton, M. [Univ. of Alabama, Birmingham (United States)

    1994-09-01

    We report 3 year old male, referred for evaluation of developmental delays. Pregnancy was complicated by oligohydramnios, proteinuria and prematurity. Medical history revealed: bilateral inguinal hernia, small scrotal sac, undescended testes, developmental delays and behavioral problems. The child had: microcephaly, facial dysmorphic features, single palmar creases, hypopigmented skin lesions of variable size, intermittent exotropia and small retracted testes. Neurological examination was normal. Cognitive level was at the average range with mild delay in his adaptive behavior. Expressive language delays and severe articulation disorder were noted, as well as clumsiness, poor control and precision of gross and fine motor skills. Chromosomal analysis of peripheral leukocytes indicated that one of the number 11 chromosomes had undergone a pericentric inversion with breakpoints on the short (p) arm at band p14.3 and the long (q) arm at band q21. An MRI of the brain showed mild delay in myelinization pattern of white matter. Chromosome 11 inversion in other sites was associated with Beckwith-Wiedemann syndrome and several malignancies. To our knowledge this is the first description of inv(11)(p14.3q21) that is associated with microcephaly, dysmorphic features, hypopigmented skin lesions and speech delay. This inversion may disrupt the expression of the involved genes. However, additional cases with the same cytogenetic anomaly are needed to explore the phenotypic significance of this disorder.

  3. Genetic Causes of Recurrent Pregnancy Loss.

    Science.gov (United States)

    Page, Jessica M; Silver, Robert M

    2016-09-01

    Pregnancy loss is one of the most common obstetric complications, affecting over 30% of conceptions. A considerable proportion of losses are due to genetic abnormalities. Indeed, over 50% of early pregnancy losses have been associated with chromosomal abnormalities. Most are due to de novo nondisjunctional events but balanced parental translocations are responsible for a small but important percentage of genetic abnormalities in couples with recurrent pregnancy loss. In the past, assessment of genetic abnormalities was limited to karyotype performed on placental or fetal tissue. However, advances in molecular genetic technology now provide rich genetic information about additional genetic causes of and risk factors for pregnancy loss. In addition, the use of preimplantation genetic testing in couples undergoing in vitro fertilization has the potential to decrease the risk of pregnancy loss from genetic abnormalities. To date, efficacy is uncertain but considerable potential remains. This chapter will review what is known about genetic causes of recurrent pregnancy loss with a focus on novel causes and potential treatments. Remaining knowledge gaps will be highlighted. PMID:27414972

  4. Clonal evolution and tumor progression in 2 human colorectal adenoma-derived cell-lines invitro - the involvement of chromosome-1 abnormalities.

    Science.gov (United States)

    Hague, A; Hanlon, K; Paraskeva, C

    1992-07-01

    Two human colorectal adenoma cell lines, S/RG and S/AN, have been continuously passaged in vitro to determine whether they would immortalize and if specific cytogenetic changes were involved in immortalization and tumor progression. At passage 7, S/RG was highly aneuploid, but had no abnormalities of chromosome 1 (Paraskeva et al, Cancer Res 49: 1282-1286, 1989). With continued passage under two independent sets of growth conditions an isochromosome Iq and derivatives of this isochromosome occurred as specific abnormalities. S/AN was near-diploid at passage 10, with a deletion in lp and monosomy 18. The karyotype at passage 44 showed no change. The cell lines are stable in that they have remained anchorage-dependent and non-tumorigenic after several years in culture and S/AN has retained a near diploid karyotype. These cell lines are therefore highly valuable for further studies of tumor progression in human colorectal carcinogenesis. PMID:21584532

  5. Identification of chromosomal abnormalities relevant to prognosis in chronic lymphocytic leukemia using multiplex ligation-dependent probe amplification.

    NARCIS (Netherlands)

    Stevens-Kroef, M.J.P.L.; Simons, A.; Gorissen, H.; Feuth, A.B.; Weghuis, D.O.; Buijs, A.J.; Raymakers, R.A.P.; Geurts van Kessel, A.H.M.

    2009-01-01

    B-cell chronic lymphocytic leukemia (CLL) is characterized by a highly variable clinical course. Characteristic genomic abnormalities provide clinically important prognostic information. Because karyotyping and fluorescence in situ hybridization (FISH) are laborious techniques, we investigated the d

  6. Characterization of the chromosomal inversion associated with the Koa mutation in the mouse revealed the cause of skeletal abnormalities

    Directory of Open Access Journals (Sweden)

    Suzuki Hiroetsu

    2009-09-01

    Full Text Available Abstract Background Koala (Koa is a dominant mutation in mice causing bushy muzzle and pinna, and is associated with a chromosomal inversion on the distal half of chromosome 15. To identify the gene responsible for the Koa phenotypes, we investigated phenotypes of Koa homozygous mice and determined the breakpoints of the inversion with a genetic method using recombination between two different chromosomal inversions. Results Skeletal preparation of Koa homozygotes showed marked deformity of the ribs and a wider skull with extended zygomatic arches, in addition to a general reduction in the lengths of long bones. They also had open eyelids at birth caused by a defect in the extension of eyelid anlagen during the embryonic stages. The proximal and distal breakpoints of the Koa inversion were determined to be 0.8-Mb distal to the Trsps1 gene and to 0.1-Mb distal to the Hoxc4 gene, respectively, as previously reported. The phenotypes of mice with the recombinant inverted chromosomes revealed the localization of the gene responsible the Koa phenotype in the vicinity of the proximal recombinant breakpoint. Expression of the Trsps1 gene in this region was significantly reduced in the Koa homozygous and heterozygous embryos. Conclusion While no gene was disrupted by the chromosomal inversion, an association between the Koa phenotype and the proximal recombinant breakpoint, phenotypic similarities with Trps1-deficient mice or human patients with TRSP1 mutations, and the reduced expression of the Trsps1 gene in Koa mice, indicated that the phenotypes of the Koa mice are caused by the altered expression of the Trps1 gene.

  7. Correlation study of prenatal ultrasound screening system and fetal chromosomal abnormalities%产前系统超声筛查与胎儿染色体异常的相关性研究

    Institute of Scientific and Technical Information of China (English)

    刘智霞

    2015-01-01

    Objective To investigate the correlation of prenatal ultrasound screening system with fetal chromosom-al abnormalities.Methods From July 2013 to July 2014, 115 cases of prenatal ultrasound screening system abnormal sit-uation were selected , invasive prenatal testing was given and chromosome karyotype was analyzed , correlation of ultrasound abnormalities with chromosomal abnormalities were analyzed .Results One hundred and fifteen cases of maternal abnormal ultrasound underwent amniocentesis or umbilical vein by karyotype analysis , chromosomal abnormalities in 28 cases were detecleal among 81 cases of severe abnormal maternal ultrasound , 4 cases of minor cases did not appear abnormal chromo-somal abnormalities, there were significant differences in the incidence of abnormalities of the two groups (P<0.05), the incidence of chromosomal abnormalities reached 45.95% when the fetal congenital heart disease with cardiac malforma-tions.Conclusions Prenatal ultrasound screening system can be found most of the abnormal development of the fetus , which provides a reliable basis for further invasive diagnostic line .%目的 探讨产前系统超声筛查与胎儿染色体异常的相关性. 方法 选择2013年7月至2014年7月行产前系统超声筛查出现异常情况的中晚孕期产妇115例,经产妇同意与产前咨询后,予以侵入性的产前检查并分析染色体的核型,分析超声异常表现与染色体异常的相关性. 结果 115例超声检查出现异常的产妇均接受脐静脉或羊水穿刺,经染色体核型的分析,81例超声检查严重异常产妇检出染色体异常28例,4例微小异常病例未出现染色体异常,两组染色体异常发病率比较差异有统计学意义(P<0.05),当胎儿先心病合并心外畸形时染色体异常发病率达到45.95%. 结论 产前系统超声筛查能发现大部分的胎儿异常发育,从而为进一步行侵入性诊断提供可靠依据.

  8. Anormalidades cromossômicas em casais com história de aborto recorrente Chromosomal abnormalities in couples with history of recurrent abortion

    Directory of Open Access Journals (Sweden)

    Andrea Kiss

    2009-02-01

    Full Text Available OBJETIVO: verificar a prevalência e as características clínicas de casais com história de abortos de repetição e anormalidade cromossômica atendidos em nosso serviço. MÉTODOS: foram avaliados retrospectivamente todos os casais encaminhados de janeiro de 1975 a junho de 2008 por história de abortos de repetição. Foram incluídos no estudo somente aqueles casais, em que a análise cromossômica feita com o cariótipo por bandas GTG foi realizada com sucesso. Foram coletados dados clínicos referentes às suas idades, bem como o número de abortamentos, natimortos, crianças polimalformadas, nativivos por casal e resultado do exame de cariótipo. Para comparação da frequência das alterações cromossômicas encontradas em nosso estudo com as da literatura, bem como entre os diferentes subgrupos de nossa amostra, foi utilizado o teste exato de Fisher (pPURPOSE: to asses the prevalence and clinical characteristics of couples with history of recurrent spontaneous abortion and chromosome abnormality, attended at the present service. METHODS: all the couples referred to our service due to history of recurrent spontaneous abortion, from January 1975 to June 2008, were evaluated. Only the ones whose chromosome karyotype analysis by GTG bands has been successfully made were included in the study. Clinical data on their age, as well as on the number of abortions, stillbirth, multiple malformations, livebirth per couple, and the result of the karyotype exam were collected. Fisher's exact test (p<0.05 has been used to compare the incidence of chromosome alterations found in our study, with data in the literature. RESULTS: there were 108 couples in the sample. Their ages varied from 21 to 58 years old among the men (average of 31.4 years old, and from 19 to 43 among the women (average of 29.9 years old. In ten couples, one of the mates (9.3% presented chromosome alterations, which corresponded respectively to three cases (30% of reciprocal

  9. Abnormal sex chromosome constitution and longitudinal growth: serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive 46,XX karyotypes

    DEFF Research Database (Denmark)

    Aksglaede, L.; Skakkebaek, N.E.; Juul, A.

    2008-01-01

    CONTEXT: Growth is a highly complex process regulated by the interaction between sex steroids and the GH IGF-axis. However, other factors such as sex chromosome-related genes play independent roles. AIM: The aim of the study was to evaluate the role of abnormal chromosome constitution for longitu...

  10. Developmental Outcome and Related Abnormalities in Goats: Comparison Between Somatic Cell Nuclear Transfer- and In Vivo-Derived Concepti During Pregnancy Through Term.

    Science.gov (United States)

    Martins, Leonardo Tondello; Neto, Saul Gaudêncio; Tavares, Kaio César Simiano; Calderón, Carlos Enrique Méndez; Aguiar, Luis Henrique; Lazzarotto, Cícera Regina; Ongaratto, Felipe Ledur; Rodrigues, Victor Hugo Vieira; Carneiro, Igor de Sá; Rossetto, Rafael; Almeida, Anderson Pinto; Fernandes, César Carneiro Linhares; Rondina, Davide; Dias, Ana Christina Oliveira; Chies, Jocelei Maria; Polejaeva, Irina A; Rodrigues, José Luiz; Forell, Fabiana; Bertolini, Luciana Relly; Bertolini, Marcelo

    2016-08-01

    Cloning by somatic cell nuclear transfer (SCNT) is characterized by low efficiency and the occurrence of developmental abnormalities, which are rather poorly studied phenomena in goats. This study aimed at comparing overall SCNT efficiency in goats by using in vitro-matured (IVM) or in vivo-matured oocytes and fibroblast donor cells (mock transfected, transgenic, or wild type), also characterizing symptoms of the Abnormal Offspring Syndrome (AOS) in development, comparing results with pregnancies produced by artificial insemination (AI) and in vivo-derived (IVD) embryos. The SCNT group had lower pregnancy rate (18.3%, 11/60), total number of concepti (20.0%, 12/60), term births (3.3%, 2/60), and live births (1.7%, 1/60) than both the IVD (77.8%, 7/9; 155.5%, 14/9; 122.2%, 11/9; 88.8%, 8/9) and the AI (71.4%, 10/14; 121.4%, 17/14; 100%, 14/14; 78.5%, 11/14) groups, respectively (p < 0.05). No SCNT pregnancies reached term using IVM oocytes, but in vivo-matured oocytes resulted in two term transgenic cloned kids. The proportion fetal membrane (FM) weight/birth weight reflected an increase in FM size and cotyledonary enlargement in clones, for disproportionally bigger newborns in relation to cotyledonary numbers. Overall, goat cloning showed losses and abnormality patterns similar to the AOS in cloned cattle and sheep, which have not been previously well recognized in goats. PMID:27362734

  11. Pregnancy Outcome with Intrauterine Insemination in Patients with Unexplained Recurrent Abortion Whose Partners Have Abnormal Hypo-Osmotic Swelling Test

    OpenAIRE

    Talie Kazerooni; Saeed Alborzi; Zohreh Tavana; Jaleh Zolghadri

    2009-01-01

    Background: Recurrent abortion is defined as three or moreconsecutive pregnancy losses. We aimed to determine the relationshipbetween male sperm parameters and hypo-osmoticswelling score and recurrent abortion. We also studiedwhether washing of spermatozoa and intrauterine inseminationin patients with recurrent miscarriage and low score hypoosmoticswelling test in male partners could improve the outcomeof pregnancy.Methods: Between February 2003 and September 2006 ingynecology clinics affilia...

  12. Sex Chromosome Meiotic Drive Systems in DROSOPHILA MELANOGASTER I. Abnormal Spermatid Development in Males with a Heterochromatin-Deficient X Chromosome (sc4sc8)

    Science.gov (United States)

    Peacock, W. J.; Miklos, George L. Gabor; Goodchild, D. J.

    1975-01-01

    The meiotic drive characteristics of the In(1)sc4Lsc8R/Y system have been examined by genetic analysis and by light and electron microscopy. sc4sc8/Y males show a direct correlation between nondisjunction frequency and meiotic drive. Temperature-shift experiments reveal that the temperature-sensitive period for nondisjunction is at meiosis, whereas that for meiotic drive has both meiotic and post-meiotic components. Cytological analyses in the light and electron microscopes reveal failures in spermiogenesis in the testes of sc4sc8 males. The extent of abnormal spermatid development increases as nondisjunction becomes more extreme. PMID:805751

  13. The influence of sugar metabolic abnormalities pregnancy on pregnancy outcome%妊娠期糖尿病对妊娠结局的影响

    Institute of Scientific and Technical Information of China (English)

    王佩珍

    2015-01-01

    Objective ti explire the influence if sugar metabilic abnirmalities pregnancy in pregnancy iutcime. Method 282 cases if pregnant wimen were divided inti ibservatiin griup 132 cases C gestatiinal diabetes mellitus griup and cintril griup 150 cases(glucise screening test negative pregnant wimen),and the twi griups if pregnancy iutcime was cimpared. Results In the ibserving griup delivery and fetal cinditiin cimpared with cintril griup with significant difference(p ﹤ 0. 05). Conclusion gestatiinal glucise metabilism is an impir-tant factir affect pregnancy iutcimes,in pregnant wimen during pregnancy,must carry in the glucise metabilism during pregnancy minitiring in schedule,and when detect abnirmal pregnancy related sugar metabilism,shall primptly carry iut pripaganda and educatiin wirk,early di-agnisis,early preventiin.%目的:探讨妊娠期糖尿病对妊娠结局的影响。方法:将282例孕妇分为观察组132例(妊娠期糖尿病组),对照组150例(OGTT 试验阴性孕妇),对比两组的妊娠结局。结果:观察组的分娩情况与对照组相比,差异有统计学意义(p ﹤0.05);观察组的新生儿窒息率、新生儿低血糖以及新生儿高胆红素血症的发生率明显较高,与对照组相比差异有统计学意义(p ﹤0.05)。结论:妊娠期糖尿病是影响妊娠结局的一个重要因素,在孕妇妊娠期间,必须按期进行妊娠期糖代谢监测,并且当孕妇妊娠糖代谢检测异常时,应及时进行宣教工作,做到早诊断、早预防。

  14. Inheritance of a Chromosome 3 and 21 Translocation in the Fetuses, with One also Having Trisomy 21, in Three Pregnancies in One Family.

    Science.gov (United States)

    Pazarbasi, A; Demirhan, O; Alptekin, D; Ozgunen, Ft; Ozpak, L; Yilmaz, Mb; Nazlican, E; Tanriverdi, N; Luleyap, U; Gümürdülü, D

    2013-12-01

    The majority of chromosome rearrangements are balanced reciprocal and Robertsonian translocations. It is now known that such abnormalities cause no phenotypic effect on the carrier but lead to increased risk of producing unbalanced gametes. Here, we report the inheritance of a translocation between chromosomes 3 and 21 in a family with one of two fetuses with Down Syndrome carrying the same translocation and the other also carrying the same translocation without the additional chromosome 21. Chromosomal analysis from fetal amniotic fluid and peripheral blood lymphocytes from the family were performed at the Çukurova University Hospital at Adana, Turkey. We assessed a family in which the translocation between chromosomes 3 and 21 segregates: one of the three progenies carried the 47,XX,+21,t(3;21)(q21;q22) karyotype and presented with Down Syndrome; another of the three progenies carried the 46,XX,t(3;21) (q21;q22) karyotype and the third had the 46,XY karyotype. Their mother is phenotypically normal. Apparently this rearrangement occurred due to an unbalanced chromosome segregation of the mother [t(3;21)(q21;q22)mat]. This family will enable us to explain the behavior of segregation patterns and the mechanism for each type of translocation from carrier to carrier and their effects on reproduction and numerical aberrations. These findings can be used in clinical genetics and may be used as an effective tool for reproductive guidance and genetic counseling. PMID:24778571

  15. Induction of mitotic and chromosomal abnormalities on Allium cepa cells by pesticides imidacloprid and sulfentrazone and the mixture of them.

    Science.gov (United States)

    Bianchi, Jaqueline; Fernandes, Thais Cristina Casimiro; Marin-Morales, Maria Aparecida

    2016-02-01

    To evaluate the cytotoxic and genotoxic effects of low concentrations of pesticides in non-target organisms, seeds of Allium cepa were exposed for 24 h to the imidacloprid insecticide, sulfentrazone herbicide and to the mixture of them, followed by recovery periods of 48 and 72 h. Imidacloprid results indicated an indirect genotoxic effect by inducing different types of chromosome aberration (CA), mainly bridges and chromosomal adherences. Cells with micronucleus (MN) were not significant in the analyzed meristems. Moreover, the 72-h recovery tests indicated that the two lower concentrations of the insecticide (0.036 and 0.36 g L(-1)) had their genotoxic effects minimized after discontinuation of treatment, differently to the observed for the field concentration (3.6 g L(-1)). Sulfentrazone herbicide at field concentration (6 g L(-1)) caused cytotoxic effects by inducing nuclear fragmentation and inhibition of cell division. The other concentrations (0.06, 0.6 and 1.2 g L(-1)) indicated genotoxic effects for this herbicide. The concentration of 0.06 g L(-1) induced persistent effects that could be visualized both by the induction of CA in the recovery times as by the presence of MN in meristematic and F1 cells. The induction of MN by this lowest concentration was associated with the great amount of breakage, losses and chromosomal bridges. The mixture of pesticides induced genotoxic and cytotoxic effects, by reducing the MI of the cells. The chromosomal damage induced by the mixture of pesticides was not persistent to the cells, since such damage was minimized 72 h after the interruption of the exposure.

  16. Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Beggs, A.H.; Neumann, P.E.; Anderson, M.S.; Kunkel, L.M. (Harvard Medical School, Boston, MA (United States)); Arahata, Kiichi; Arikawa, Eri; Nonaka, Ikuya (National Inst. of Neuroscience, Tokyo (Japan))

    1992-01-15

    Abnormalities of dystrophin, a cytoskeletal protein of muscle and nerve, are generally considered specific for Duchenne and Becker muscular dystrophy. However, several patients have recently been identified with dystrophin deficiency who, before dystrophin testing, were considered to have Fukuyama congenital muscular dystrophy (FCMD) on the basis of clinical findings. Epidemiologic data suggest that only 1/3,500 males with autosomal recessive FCMD should have abnormal dystrophin. To explain the observation of 3/23 FCMD males with abnormal dystrophin, the authors propose that dystrophin and the FCMD gene product interact and that the earlier onset and greater severity of these patients' phenotype (relative to Duchenne muscular dystrophy) are due to their being heterozygous for the FCMD mutation in addition to being hemizygous for Duchenne muscular dystrophy, a genotype that is predicted to occur in 1/175,000 Japanese males. This model may help explain the genetic basis for some of the clinical and pathological variability seen among patients with FCMD, and it has potential implications for understanding the inheritance of other autosomal recessive disorders in general. For example, sex ratios for rare autosomal recessive disorders caused by mutations in proteins that interact with X chromosome-linked gene products may display predictable deviation from 1:1.

  17. A novel chromosomal abnormality t (9;14(p24;q13 in B-acute lymphoblastic leukemia

    Directory of Open Access Journals (Sweden)

    Sureshkumar Raveendran

    2014-01-01

    Full Text Available Acute lymphoblastic leukemia is a malignant disease of the bone marrow in which early lymphoid precursors proliferate and replace the normal hematopoietic cells of the marrow. We describe the clinical, morphologic, immunophenotypic and cytogenetic findings in the case of a 26-year-old man with B-lymphoblastic leukemia. Surface marker analysis revealed that they are positive for CD markers CD10, CD19, CD13, CD34, CD45 and HLA-DR, but negative for CD20, CD33, CD117 and CD11C markers. Cytogenetic analysis established a novel translocation, t (9;14(p24;q13. Apart from this, spectral karyotyping revealed an additional translocation, t (6p; 14q. This is the first documented case of B-lymphoblastic leukemia with concurrent occurrence of both abnormalities. Further studies are needed to understand the role of this abnormality in carcinogenesis.

  18. Chromosome abnormalities in colorectal adenomas: two cytogenetic subgroups characterized by deletion of 1p and numerical aberrations

    DEFF Research Database (Denmark)

    Bomme, L; Bardi, G; Pandis, N;

    1996-01-01

    and another with a small 1p deletion. In three adenomas, del(1)(p36) was the only cytogenetic aberration, supporting the authors' previous conclusion that loss of one or more gene loci in band 1p36 is a common early change in colorectal tumorigenesis. Chromosome 8 was involved in structural changes in two...... adenomas; in one this led to loss of 8p and in the other to gain of 8q. The cytogenetic findings did not correlate in a statistically significant manner with clinicopathologic parameters, such as grade of dysplasia, macroscopic or microscopic adenoma structure, tumor size and location, or the patients' sex...

  19. Pregnancy Outcome with Intrauterine Insemination in Patients with Unexplained Recurrent Abortion Whose Partners Have Abnormal Hypo-Osmotic Swelling Test

    Directory of Open Access Journals (Sweden)

    Talie Kazerooni

    2009-09-01

    Full Text Available Background: Recurrent abortion is defined as three or moreconsecutive pregnancy losses. We aimed to determine the relationshipbetween male sperm parameters and hypo-osmoticswelling score and recurrent abortion. We also studiedwhether washing of spermatozoa and intrauterine inseminationin patients with recurrent miscarriage and low score hypoosmoticswelling test in male partners could improve the outcomeof pregnancy.Methods: Between February 2003 and September 2006 ingynecology clinics affiliated to Shiraz University of MedicalSciences, 176 women with a history of recurrent abortionand their male partners were selected as study group. And159 healthy and fertile couples without a history of recurrentabortion were selected as control group. The relationship betweenmale sperm parameters and hypo-osmotic swelling testand recurrent spontaneous abortion in their female partnerswas evaluated after intrauterine insemination for those withabnormal hypo-osmotic swelling test. Outcome of pregnancyin patients with recurrent abortion whose male partners hadlow score hypo-osmotic swelling test was evaluated afterintrauterine insemination.Results: Low scores of hypo-osmotic swelling test weremore frequently seen in the study group than the controls:116 (65% versus 24 (15%. The mean hypo-osmotic swellingscore was significantly lower in the study group(P< 0.001. The outcome of pregnancy improved after intrauterineinsemination in those with low score hypoosmoticswelling test. The pregnancy success rate in thetreated group (pregnant with intrauterine insemination was77.77% while in the untreated group (pregnant without intrauterineinsemination was 30.76% with a success rateratio of 2.04.Conclusion: There was a positive relationship between lowhypo-osmotic swelling test score in male partners and recurrentabortion in their wives. Intrauterine insemination improvedthe outcome of pregnancy in these couples.

  20. Missed abortion caused by fetal chromosome abnormalities or developmental defects and its management%胚胎发育异常所致流产及管理

    Institute of Scientific and Technical Information of China (English)

    赵晓曦

    2011-01-01

    自然流产是产科常见病之一,但在目前的技术条件下,自然流产的原因常常难以被发现,胚胎发育异常是造成流产的重要原因之一,对胚胎的外观畸形,染色体核型异常进行诊断和评估是寻找自然流产原因的重要途径,而辅助生殖技术的应用对于发现胚胎染色体异常及减少流产有一定的作用.%Missed abortion is a common obstetric disease, but under current technical conditions, causes of missed abortion are difficult to be found out. Developmental disorders of embryo is one of important cause of missed abortion. Diagnosing and evaluating structural malformations and chromosomal aberrations are important approches to find out the causes of missed abortion. And, application of assisted reproductive technique(ART) in recent years is helpful for identifying chromosome abnormalities of the embryo before implantation and avoiding incidence of missed abortion.

  1. Human glioblastoma cells persistently infected with simian virus 40 carry nondefective episomal viral DNA and acquire the transformed phenotype and numerous chromosomal abnormalities.

    Science.gov (United States)

    Norkin, L C; Steinberg, V I; Kosz-Vnenchak, M

    1985-02-01

    A stable, persistent infection of A172 human glioblastoma cells with simian virus 40 (SV40) was readily established after infection at an input of 450 PFU per cell. Only 11% of the cells were initially susceptible to SV40, as shown by indirect immunofluorescent staining for the SV40 T antigen at 48 h. However, all cells produced T antigen by week 11. In contrast, viral capsid proteins were made in only about 1% of the cells in the established carrier system. Weekly viral yields ranged between 10(4) and 10(6) PFU/ml. Most of the capsid protein-producing cells contained enormous aberrant (lobulated or multiple) nuclei. Persistent viral DNA appeared in an episomal or "free" state exclusively in Southern blots and was indistinguishable from standard SV40 DNA by restriction analysis. Viral autointerference activity was not detected, and yield reduction assays did not indicate defective interfering particle activity, further implying that variant viruses were not a factor in this carrier system. Interferon was also not a factor in the system, as shown by direct challenge with vesicular stomatitis virus. Persistent infection resulted in cellular growth changes (enhanced saturation density and plating efficiency) characteristic of SV40 transformation. Persistent infection also led to an increased frequency of cytogenetic effects. These included sister chromatid exchanges, a variety of chromosomal abnormalities (ring chromosomes, acentric fragments, breaks, and gaps), and an increase in the chromosome number. Nevertheless, the persistently infected cells continued to display a bipolar glial cell-like morphology with extensive process extension and intercellular contacts.

  2. 1075例产前诊断中32例染色体异常胎儿预后分析%The prognosis analysis on the 32 cases with chromosome abnormality among 1075 cases in prenatal diagnosis

    Institute of Scientific and Technical Information of China (English)

    覃婷; 田矛; 莫伟英; 施月秋

    2011-01-01

    目的 探讨胎儿染色体异常与产前诊断的高危因素的关系及胎儿预后.方法 回顾性分析2004年10月至2009年8月间在我院因各种原因行羊膜腔穿刺或脐带血穿刺产前诊断的胎儿染色体核型.结果 总共1075例产前诊断中共发现胎儿染色体异常32人,染色体异常检出率2.97%.其中检出45,XY,t(21.14)1例,双胎均为46,XX,22Pstk+1例,47,XY,+(?),1例,46,XX,t(8;16)1例,46,XY,t(1;18)1例,46,XY,t(2;14)1例,46,XX,t(11;12)1例,产前诊断指征均为夫妻双方之一染色体平衡异位.46,XY,inv(Y)1例,产前诊断指征为生育过唐氏综合征.46,XY,inv(9)10例,产前诊断指征为羊水少,单脐动脉1人,孕期使用胚胎毒性药物使用史1人,唐氏征筛查高危4人,高龄2人,地中海贫血1人.47,XXY 1例,产前诊断指征为胎儿双肾盂分离.唐氏综合征6例,产前诊断指征为唐氏征高危2人,高龄3人,NT值高1人.47,XYY 2例,产前诊断指征为唐氏征高危1人,高龄1人.47,XXY/46,XX 1例,产前诊断指征为唐氏征高危.18-三体3例,产前诊断指征为高龄1人,NT值高1人,18,13-三体高危1人.结论 夫妻双方之一染色体平衡异位胎儿染色体核型异常类型多样.唐氏综合征及18-三体胎儿常见于高龄,血清学筛查高危,NT值升高孕妇.孕11-14周B超测NT值及孕中期血清学唐氏综合征筛查可以提高产前诊断的效率,减少出生缺陷.%Objective:To study the relationship between fetal chromosome abnormality and the high risk factors of prenatal diagnosis, and fetal prognosis. Methods: To analyze the fetal chromosome karyotypes which were performed the amniocentesis or cordocentesis in prenatal diagnosis due to various reasons in our hospital from October 2004 - August 2009. Results:In 1075 cases,the number of fetal chromosome abnormality was 32 in prenatal diagnosis,and the detection rate of chromosome abnormality was 2. 97%. There was one case of 45 ,XY,t(21 ;14) ,two cases of both fetuses of 46,XX,22

  3. Recurrent pregnancy loss and obesity.

    Science.gov (United States)

    Sugiura-Ogasawara, Mayumi

    2015-05-01

    Recurrent pregnancy loss (RPL) was defined as two or more miscarriages. Antiphospholipid syndrome, uterine anomalies, and parental chromosomal abnormalities, particularly translocation and abnormal embryonic karyotype, are identifiable causes of RPL. Obesity may increase the risk of sporadic miscarriage in pregnancies conceived spontaneously. Obesity with body mass index (BMI)>30 kg/m2 is an independent risk factor for further miscarriage with odds ratio 1.7-3.5 in patients with early RPL. Obesity is associated with euploid miscarriage. Unexplained RPL with euploid embryo might be a common disease caused by both polymorphisms of multiple susceptibility genes and lifestyle factors such as women's age, obesity, and smoking. Patients with a history of RPL were found to have a higher risk of cardiovascular disease, celiac disease, gastric ulcer, gastritis, and atopic dermatitis. No study has examined the effect of weight loss on the prevention of further miscarriage in patients with RPL.

  4. First-trimester maternal serum human chorionic gonadotrophin as a marker for fetal chromosomal disorders. The Dutch Working Party on Prenatal Diagnosis.

    Science.gov (United States)

    Van Lith, J M

    1992-06-01

    The Dutch Working Party on Prenatal Diagnosis has initiated a study on the possibilities of first-trimester screening for fetal chromosomal disorders. We report on maternal serum human chorionic gonadotrophin (MS-hCG) measurements in 1348 pregnancies with a chromosomally normal fetus and 53 pregnancies with a chromosomally abnormal fetus. The median MS-hCG concentration in 24 pregnancies with Down's syndrome was 1.19 multiples of the normal median (MoM). The MS-hCG distributions in normal and Down's syndrome pregnancies did not differ significantly (t-test: t = 1.945, p greater than 0.05). We also found no difference between normal pregnancies and pregnancies with other chromosomal disorders (six cases of trisomy 18, MoM = 0.80; four cases of sex chromosome abnormality, MoM = 1.01; 17 cases of chromosomal mosaicism in chorionic villi, MoM = 1.11). Selecting an upper limit at the 90th centile could detect 25 per cent of pregnancies with Down's syndrome. We conclude that, in the first trimester, MS-hCG as a screening factor for Down's syndrome is of minor value. However, MS-hCG could be a useful factor in a first-trimester screening programme based on a combination of markers. PMID:1387477

  5. Unique double de novo structural rearrangements for chromosome 11 with 46,XX,del(11)(q13q23)/46,XX,inv dup(11)(q13q23) in an infant with minor congenital abnormalities and delayed development

    Energy Technology Data Exchange (ETDEWEB)

    Tharapel, A.T.; Zhao, J.; Smith, M.E. [Univ. of Tennessee, Memphis, TN (United States)] [and others

    1994-09-01

    Reported here is a patient with two most unusual structural rearrangements, both involving chromosome 11. The first cell line showed an interstitial deletion of a chromosome 11 with a 46,XX,del(11)(q13q23) chromosome complement. In the second cell line, one of the chromosome 11s had a duplication for the exact region, (11)(q13q23), that was deleted in the first cell line. This duplication also appeared to be inverted with karyotype 46,XX,inv dup(11)(q13q23). Interestingly, chromosome analysis did not reveal a normal cell line and the two abnormal cell lines were present in a 1:1 ratio. Parental chromosome analyses showed normal karyotypes. The patient was referred for genetic evaluation because of developmental delay. Minor congenital anomalies presented on physical examination included: weight and height at or below the 5th percentile, microcephaly, downward slanting palpebral fissures, severe clinodactyly of one toe, bilateral short fifth fingers and a broad based gait. Results of the MRI and urine metabolic screen were normal. Two hypotheses are advanced to explain the origin of the abnormality. It is most likely that the abnormality arose as a postzygotic event at the very early zygotic division. During the first DNA synthesis after fertilization and before the zygotic division, DNA synthesis errors could result in two chromatids, one with a deletion and the other with a duplication. It is also possible that after the DNA synthesis prior to the first cell division, the chromatids of the same chromosome 11 for unknown reasons were involved in uneven double somatic crossing over events resulting in deleted and duplicated chromatids, respectively. The 1:1 cell ratio found in the patient and the apparent non-existence of a normal cell line further suggest that the origin of the abnormality was post-zygotic.

  6. Diabetes mellitus and drug abuse during pregnancy and the risk for orofacial clefts and related abnormalities 1

    Science.gov (United States)

    Trindade-Suedam, Ivy Kiemle; von Kostrisch, Lília Maria; Pimenta, Luiz André Freire; Negrato, Carlos Antônio; Franzolin, Solange Braga; Trindade, Alceu Sergio

    2016-01-01

    Abstract Objective: to assessed the prevalence of diabetes mellitus (DM) and drug abuse in mothers of children with orofacial clefts (OFC). Methods: 325 women who had children (0-3y) with clefts were interviewed. Data regarding type of diabetes, use of legal/illegal drugs during pregnancy, waist girth and fasting blood sugar at the first prenatal consult were collected. Results: twenty seven percent of the women had DM, out of these, 89% had gestational DM, 5,5% type 1 DM and 5,5% type 2 DM. The prevalence of DM in mothers of children with OFC was 27%, it is significantly higher than the average Brazilian population which is 7.6% (p<0.01) (OR=4.5, 95%CI=3.5-5.8). Regarding drug abuse during pregnancy, 32% of the mothers used drugs and a significant positive correlation was observed between drug abuse and the occurrence of clefts and other craniofacial anomalies (p=0.028) (OR=2.87; 95%CI=1.1-7.4). Conclusions: DM and drug abuse during pregnancy increases the risk for OFC and related anomalies and early diagnosis of DM and prevention of drug abuse, especially in pregnant women, should be emphasized. PMID:27508899

  7. Diabetes mellitus and drug abuse during pregnancy and the risk for orofacial clefts and related abnormalities 1

    Science.gov (United States)

    Trindade-Suedam, Ivy Kiemle; von Kostrisch, Lília Maria; Pimenta, Luiz André Freire; Negrato, Carlos Antônio; Franzolin, Solange Braga; Trindade, Alceu Sergio

    2016-01-01

    Abstract Objective: to assessed the prevalence of diabetes mellitus (DM) and drug abuse in mothers of children with orofacial clefts (OFC). Methods: 325 women who had children (0-3y) with clefts were interviewed. Data regarding type of diabetes, use of legal/illegal drugs during pregnancy, waist girth and fasting blood sugar at the first prenatal consult were collected. Results: twenty seven percent of the women had DM, out of these, 89% had gestational DM, 5,5% type 1 DM and 5,5% type 2 DM. The prevalence of DM in mothers of children with OFC was 27%, it is significantly higher than the average Brazilian population which is 7.6% (pabuse during pregnancy, 32% of the mothers used drugs and a significant positive correlation was observed between drug abuse and the occurrence of clefts and other craniofacial anomalies (p=0.028) (OR=2.87; 95%CI=1.1-7.4). Conclusions: DM and drug abuse during pregnancy increases the risk for OFC and related anomalies and early diagnosis of DM and prevention of drug abuse, especially in pregnant women, should be emphasized. PMID:27508899

  8. Chromosomal rearrangements as the cause of habitual abortions

    Directory of Open Access Journals (Sweden)

    Petrović Bojana

    2007-01-01

    Full Text Available Introduction Habitual abortion is a spontaneous abortion occurring in three or more successive pregnancies with no intervening pregnancies. Chromosomal aberrations account for approximately 50% of fetal losses prior to 15 weeks. Objective The aim of this study was to determine the role of chromosomal rearrangements in etiology of habitual abortions in couples with a normal karyotype. Method We analyzed the karyotype of placental tissue, taken from spontaneously aborted fetuses from couples with normal karyotype and habitual abortions. The women tested were divided into two groups. In the first group, there were 23 women below 35, and in the second, 13 women above 35 years of age. Tissue samples were obtained from the abortions and processed using standard techniques. All specimens were G-banded using trypsin-Giemsa stain. Sixteen metaphase cells were analyzed for their chromosome constitution in each sample. For statistical analysis, we used χІ test. Results From 36 analyzed cases, there were 17 (47.2% with an abnormal chromosomal constitution and 19 (58.2% with a normal chromosomal constitution. Trisomy 16 was detected in 4 cases. Among sex chromosomal aberrations, only monosomy X was found in 3 cases. Two cases of triploidy and two cases of trisomy 8, 18 and 21 were detected. Trisomy 12 and trisomy 13 were found in one case each. In group of women under 35 (I group, the percentage of chromosomally abnormal fetuses was 34.8%, while in the group of women above 35 (II group, that percentage was 69.2, but there was no statistically significant difference between groups I and II (χІ=3.01< χІ(1 and 0.05=3.841. Conclusion Hereditary base defects are a significant cause of spontaneous abortions in early pregnancy. Detection of chromosomal abnormalities provides the opportunity to plan further treatment of reproduction disorders.

  9. Increased Nuchal Translucency and Pregnancy Outcome

    Directory of Open Access Journals (Sweden)

    A Tahmasebpour

    2012-11-01

    Full Text Available Background: To study the outcome of cases with nuchal translucency (NT ≥ 95th centile in the first trimester of pregnancy.Methods: This cross sectional study was performed at Iranian Fetal Medicine Foundation (FMF between January 2009 and December 2011. Totally, 186 cases with NT≥ 95th centile who attended for the first trimester screening were studied. All cases with increased NT including those with normal karyotype were followed up with anomaly scan at 18-22 weeks and fetal echocardiography at 22-24 weeks. Pregnancy outcome was extracted from delivery records and pediatrics notes and telephone interviews.Results: Of screened cases, 186 fetuses had an NT≥95th centile, of them 19.8% were abnormal karyotype, including 29 cases of trisomy 21, three of trisomy 18, two of trisomy 13, three of Turner syndrome. 77.8% did not show any abnormalities on follow-up examinations. 4.6% of cases were found to have malformation antenatally and 4% cases postnatally. 11.4% women elected termination of pregnancy without further follow up. There were 4.6% fetal loss and 1.3% hydrops fetalis.Conclusion: In this unselected population, the study showed one out of four fetuses with enlarged NT had an adverse pregnancy outcome (miscarriage, fetal loss, and fetal abnormalities, however the chance of having a normal child after exclusion of chromosomal abnormalities and adverse pregnancy outcome was 95%.

  10. Electochemical detection of chromosome translocation

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Dimaki, Maria; Silahtaroglu, Asli;

    2014-01-01

    Cytogenetics is a study of the cell structure with a main focus on chromosomes content and their structure. Chromosome abnormalities, such as translocations may cause various genetic disorders and heametological malignancies. Chromosome translocations are structural rearrangements of two chromoso...

  11. Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome.

    NARCIS (Netherlands)

    Wieczorek, D.; Ludwig, M.; Boehringer, S.; Jongbloet, P.H.; Gillessen-Kaesbach, G.; Horsthemke, B.

    2007-01-01

    A great number of case reports on concordant and discordant twins with oculo-auriculo-vertebral spectrum (OAVS) suggest that there might be an association between reproductive abnormalities, twinning and OAVS. The etiology of OAVS is unknown, but may involve epigenetic dysregulation of the oocyte or

  12. Unique geometry of sister kinetochores in human oocytes during meiosis I may explain maternal age-associated increases in chromosomal abnormalities

    Directory of Open Access Journals (Sweden)

    Jessica Patel

    2016-02-01

    Full Text Available The first meiotic division in human oocytes is highly error-prone and contributes to the uniquely high incidence of aneuploidy observed in human pregnancies. A successful meiosis I (MI division entails separation of homologous chromosome pairs and co-segregation of sister chromatids. For this to happen, sister kinetochores must form attachments to spindle kinetochore-fibres emanating from the same pole. In mouse and budding yeast, sister kinetochores remain closely associated with each other during MI, enabling them to act as a single unified structure. However, whether this arrangement also applies in human meiosis I oocytes was unclear. In this study, we perform high-resolution imaging of over 1900 kinetochores in human oocytes, to examine the geometry and architecture of the human meiotic kinetochore. We reveal that sister kinetochores in MI are not physically fused, and instead individual kinetochores within a pair are capable of forming independent attachments to spindle k-fibres. Notably, with increasing female age, the separation between kinetochores increases, suggesting a degradation of centromeric cohesion and/or changes in kinetochore architecture. Our data suggest that the differential arrangement of sister kinetochores and dual k-fibre attachments may explain the high proportion of unstable attachments that form in MI and thus indicate why human oocytes are prone to aneuploidy, particularly with increasing maternal age.

  13. Unique geometry of sister kinetochores in human oocytes during meiosis I may explain maternal age-associated increases in chromosomal abnormalities.

    Science.gov (United States)

    Patel, Jessica; Tan, Seang Lin; Hartshorne, Geraldine M; McAinsh, Andrew D

    2015-12-30

    The first meiotic division in human oocytes is highly error-prone and contributes to the uniquely high incidence of aneuploidy observed in human pregnancies. A successful meiosis I (MI) division entails separation of homologous chromosome pairs and co-segregation of sister chromatids. For this to happen, sister kinetochores must form attachments to spindle kinetochore-fibres emanating from the same pole. In mouse and budding yeast, sister kinetochores remain closely associated with each other during MI, enabling them to act as a single unified structure. However, whether this arrangement also applies in human meiosis I oocytes was unclear. In this study, we perform high-resolution imaging of over 1900 kinetochores in human oocytes, to examine the geometry and architecture of the human meiotic kinetochore. We reveal that sister kinetochores in MI are not physically fused, and instead individual kinetochores within a pair are capable of forming independent attachments to spindle k-fibres. Notably, with increasing female age, the separation between kinetochores increases, suggesting a degradation of centromeric cohesion and/or changes in kinetochore architecture. Our data suggest that the differential arrangement of sister kinetochores and dual k-fibre attachments may explain the high proportion of unstable attachments that form in MI and thus indicate why human oocytes are prone to aneuploidy, particularly with increasing maternal age.

  14. Chromosomal disorders and male infertility

    Institute of Scientific and Technical Information of China (English)

    Gary L Harton; Helen G Tempest

    2012-01-01

    infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family.Despite this,the molecular and genetic factors underlying the cause of infertility remain largely undiscovered.Nevertheless,more and more genetic factors associated with infertility are being identified.This review will focus on our current understanding of the chromosomal basis of male infertility specifically:chromosomal aneuploidy,structural and numerical karyotype abnormalities and Y chromosomal microdeletions.Chromosomal aneuploidy is the leading cause of pregnancy loss and developmental disabilities in humans.Aneuploidy is predominantly maternal in origin,but concerns have been raised regarding the safety of intracytoplasmic sperm injection as infertile men have significantly higher levels of sperm aneuploidy compared to their fertile counterparts.Males with numerical or structural karyotype abnormalities are also at an increased risk of producing aneuploid sperm.Our current understanding of how sperm aneuploidy translates to embryo aneuploidy will be reviewed,as well as the application of preimplantation genetic diagnosis (PGD) in such cases.Clinical recommendations where possible will be made,as well as discussion of the use of emerging array technology in PGD and its potential applications in male infertility.

  15. Correlation of fetal chromosomal abnormalities to prenatal ultrasound features%胎儿染色体异常与产前超声特征的相关性研究

    Institute of Scientific and Technical Information of China (English)

    陈翠华; 裘毓雯; 常清贤; 尹爱兰

    2011-01-01

    Objective To investigate the correlation between fetal chromosomal abnormalities and the characteristic features of prenatal ultrasound findings. Methods A total of 510 cases were underwent chromosome examination by amniotic fluid or cord blood analysis to identify fetal chromosomal abnormalities. The correlation between the abnormalities and the characteristics of the prenatal ultrasound findings was analyzed. Results Fifty-three cases of abnormal karyotypes were detected with a positivity rate of 10.2%. Of these cases, 32 cases had chromosome number abnormalities, including 15 with 21-trisomy, 11 with 18-trisomy, 2 with 13-trisomy, 2 with 45, XO monomer and 2 with 92, XXXX tetraploid. Chromosome structural abnormalities were found in 21 cases, including 4 with translocation, 3 with insertion, 6 with inversion, 4 with deletion and 4 with derivation. Prenatal ultrasound showed obvious structural abnormalities in 22 cases (41.5%), structural malformation with ultrasonographic soft markers in 18 cases (34.0%), and separate ultrasonographic soft markers in 8 cases (15.1%). Conclusion Prenatal ultrasound fetal abnormalities and chromosome abnormalities are closely related. Prenatal ultrasound of fetal chromosomal abnormalities usually presents with a variety of significant structural abnormalities. A greater number of malformations is associated with a greater risk of chromosomal abnormalities and increased occurrence of ultrasonographic soft markers.%目的 探讨胎儿染色体异常与产前超声特征的关系.方法 收集我院2005年1月至2009年12月经产前诊断出的53例染色体异常胎儿,与产前超声检查出的异常征象进行对比性分析,统计染色体异常胎儿的检出类型与超声畸形谱,并对染色体异常的胎儿进行术后或出生后随访.结果 共有510例羊水和脐带血样本进行染色体检查,检出异常核型53例,阳性率为10.2%.其中,染色体数目异常32例,包括21-三体15例,18-三体11例,13-

  16. Identification of 9 uterine genes that are regulated during mouse pregnancy and exhibit abnormal levels in the cyclooxygenase-1 knockout mouse

    Directory of Open Access Journals (Sweden)

    Soper Jessica

    2007-07-01

    Full Text Available Abstract Background Preterm birth is the leading cause of all infant mortality. In 2004, 12.5% of all births were preterm. In order to understand preterm labor, we must first understand normal labor. Since many of the myometrial changes that occur during pregnancy are similar in mice and humans and mouse gestation is short, we have studied the uterine genes that change in the mouse during pregnancy. Here, we used microarray analysis to identify uterine genes in the gravid mouse that are differentially regulated in the cyclooxygenase-1 knockout mouse model of delayed parturition. Methods Gestational d18.0 uteri (n = 4 were collected from pregnant wild-type and cyclooxygenase-1 knockout mice. Part of the uterus was used for frozen sections and RNA was isolated from the remainder. Microarray analysis was performed at the Indiana University School of Medicine Genomic Core and analyzed using the Microarray Data Portal. Northern analysis was performed to confirm microarray data and the genes localized in the gravid uterus by in situ hybridization. Results We identified 277 genes that are abnormally expressed in the gravid d18.0 cyclooxygenase-1 knockout mouse. Nine of these genes are also regulated in the normal murine uterus during the last half of gestation. Many of these genes are involved in the immune response, consistent with an important role of the immune system in parturition. Expression of 4 of these genes; arginase I, IgJ, Tnfrsf9 and troponin; was confirmed by Northern analysis to be mis-regulated during pregnancy in the knockout mouse. In situ hybridization of these genes demonstrated a similar location in the gravid wild-type and Cox-1 knockout mouse uteri. Conclusion To our knowledge, this is the first work to demonstrate the uterine location of these 4 genes in the mouse during late pregnancy. There are several putative transcription factor binding sites that are shared by many of the 9 genes identified here including; estrogen and

  17. Morphometric and functional abnormalities of kidneys in the progeny of mice fed chocolate during pregnancy and lactation.

    Directory of Open Access Journals (Sweden)

    Ewa Skopińska-Rózewska

    2006-09-01

    Full Text Available Even most commonly consumed beverages like tea, coffee, chocolate and cocoa contain methylxanthines, biogenic amines and polyphenols, among them catechins, that exhibit significant biological activity and might profoundly affect the organism homeostasis. We have previously shown that 400 mg of bitter chocolate or 6 mg of theobromine added to the daily diet of pregnant and afterwards lactating mice affected embryonic angiogenesis and caused bone mineralization disturbances as well as limb shortening in 4-weeks old offspring. The aim of the present study was the morphometric and functional evaluation of kidneys in the 4-weeks old progeny mice fed according to the protocol mentioned above. Progeny from the mice fed chocolate presented considerable morphometric abnormalities in the kidney structure, with the lower number of glomeruli per mm2 and their increased diameter. Moreover, higher serum creatinine concentration was observed in that group of offspring. No morphometric or functional irregularities were found in the progeny of mice fed theobromine. Abnormalities demonstrated in the offspring of mice fed chocolate are not related to its theobromine content. Consequently, identification of active compound(s responsible for the observed effects is of vital importance.

  18. 自然妊娠与 ART 术后妊娠早期流产胎儿的绒毛染色体核型比较分析%A comparative analysis of chromosome karyotype villi of early miscarriage from natural pregnancy and pregnancy by ART

    Institute of Scientific and Technical Information of China (English)

    牟春艳; 李苗

    2015-01-01

    statistically significant (P<0.01).Conclusion Miscarriage at the early stage of pregnancy is closely related to fetal chromosomal abnormality .

  19. Rapid screening for chromosomal aneuploidies using array-MLPA

    Directory of Open Access Journals (Sweden)

    van Beuningen Rinie

    2011-05-01

    Full Text Available Abstract Background Chromosome abnormalities, especially trisomy of chromosome 21, 13, or 18 as well as sex chromosome aneuploidy, are a well-established cause of pregnancy loss. Cultured cell karyotype analysis and FISH have been considered reliable detectors of fetal abnormality. However, results are usually not available for 3-4 days or more. Multiplex ligation-dependent probe amplification (MLPA has emerged as an alternative rapid technique for detection of chromosome aneuploidies. However, conventional MLPA does not allow for relative quantification of more than 50 different target sequences in one reaction and does not detect mosaic trisomy. A multiplexed MLPA with more sensitive detection would be useful for fetal genetic screening. Methods We developed a method of array-based MLPA to rapidly screen for common aneuploidies. We designed 116 universal tag-probes covering chromosomes 13, 18, 21, X, and Y, and 8 control autosomal genes. We performed MLPA and hybridized the products on a 4-well flow-through microarray system. We determined chromosome copy numbers by analyzing the relative signals of the chromosome-specific probes. Results In a blind study of 161 peripheral blood and 12 amniotic fluid samples previously karyotyped, 169 of 173 (97.7% including all the amniotic fluid samples were correctly identified by array-MLPA. Furthermore, we detected two chromosome X monosomy mosaic cases in which the mosaism rates estimated by array-MLPA were basically consistent with the results from karyotyping. Additionally, we identified five Y chromosome abnormalities in which G-banding could not distinguish their origins for four of the five cases. Conclusions Our study demonstrates the successful application and strong potential of array-MLPA in clinical diagnosis and prenatal testing for rapid and sensitive chromosomal aneuploidy screening. Furthermore, we have developed a simple and rapid procedure for screening copy numbers on chromosomes 13, 18

  20. 西城区118例染色体畸形流行特征分析%Epidemiological analysis of 118 cases of chromosomal abnormalities in Xicheng District of Beijing

    Institute of Scientific and Technical Information of China (English)

    闫学明; 夏宏伟

    2012-01-01

    目的 了解近年来北京市西城区医院监测染色体畸形发生情况.方法 对2005年10月1日~2010年9月30日间北京市西城区产科医院孕13周一产后7d的胎儿及新生儿进行出生缺陷监测,并对监测结果进行率及顺位等分析.结果 (1)监测到染色体畸形118例,发生率为30.39/万;(2)监测到24种染色体畸形,发生率前三位依次是唐氏综合征(17.25/万)、18-三体(3.09/万)、特纳征(5.08/万);(3)染色体畸形患儿产前诊断率为75.42%,活产率为21.19%,其母亲高龄构成比为54.24%.结论 西城区具有较高的染色体畸形产前诊断率;监测到染色体畸形种类较多.%Objective To investigate the situation of chromosomal abnormalities among hospitals of Xicheng District . Methods Fetus and newborn between 13w and 7d after delivery were monitored for defects in hospitals of Xicheng District from October,2005 to September, 2010. Incidence of chromosomal abnormalities and incidence sequence of abnormality types were analyzed. Results 1. 118 cases of chromosomal abnormalities were monitored with the incidence of 3.039‰. 2 . 24 types of abnormalities were monitored and the three most common abnormalities were Down's syndrome(l7.25/10000), 18-trisomy syndrome (3.09/10 000), and Turner syndrome (5.08/10 000). 3. 75.42% of the 118 cases were diagnosed at antepartum with live birth rate (21.19% ) and their mothers with advanced age accounted for 54.24%. Conclusion There's relatively higher prenatal diagnosis rate for detection of chromosomal abnormalities in Xicheng District, where more abnormality types can be monitored.

  1. 胎儿骨骼系统异常与染色体异常的相关性分析%The correlation analysis of fetal skeletal anomalies with chromosome abnormality by prenatal systematic ultrasonography examination

    Institute of Scientific and Technical Information of China (English)

    熊雯; 罗红; 安绍宇; 吴莹; 刘芸

    2015-01-01

    Objective To evaluate the value of systemic ultrasound examination in prenatal diagnosis of fetus skeletal system anomaly combined with chromosomal abnormalities. Methods In 12 146 patients examined by systemic ultrasound in Sichuan Provincial People's Hospital from 2006 to 2013, 21 fetus with skeletal system abnormalities and chromosomal abnormalities were included in the study. And the correlation between skeletal system abnormalities and chromosomal abnormalities in fetus was evaluated. Results This study involves 21 cases of abnormal fetal skeletal system combined with chromosomal abnormalities. Among them, there were 5 cases of trisomy-21, 11 cases of trisomy-18, 3 cases of trisomy-13, 1 case of [46, XYt (6, 9)], and 1 case of (46, XY, 6 q-). In 19 cases, other system malformations were found, including nervous system abnormalities, facial deformity, cardiac structural abnormalities and intrauterine retardation. In the rest 2 cases, skeletal system abnormalities were the only structural malformation detected on prenatal ultrasound examination. Conclusion Systemic ultrasound can't only detect fetal skeletal system abnormalities but also provide clues for specific chromosomal abnormalities, which was useful in optimizing prenatal diagnosis.%目的评价系统超声检出胎儿骨骼系统异常与染色体异常的相关性。方法收集2006年至2013年在四川省人民医院行系统超声检查的12146人次的胎儿资料,筛选出21例既有骨骼系统异常表现又存在染色体异常的胎儿完整临床资料(包括系统超声检查图像资料,引产或产后追踪结果,羊水穿刺胎儿染色体检测结果),评价超声可检出的骨骼系统异常与染色体异常之间的相关性。结果本组资料共21例胎儿骨骼系统异常合并染色体异常,其中21-三体5例,18-三体11例,13-三体3例,余染色体异常2例[46,XYt(6,9),(46,XY,6 q-)],21-三体5例,18-三体11例,13-三体3例均

  2. 胎儿心内强光点与染色体异常的关系%Relationship between intracardiac echogenic focus in fetus and chromosomal abnormality

    Institute of Scientific and Technical Information of China (English)

    林洪亮; 陈必良

    2012-01-01

    The occurrence of the intracardiac echogenic focus ( ICEF ) within the ventricles of the fetal heart is found and well known in mid-1980s. The histopathological manifestation of this sonographic sign is a microcalcification in papillary muscle. Such appearance is initially thought to be entirely benign. In 1992, Roberts and Genest reported microcalcifications in ventricles in 16% of fetuses with trisomy 21, 39% of fetuses with trisomy 13 , and 2% of normal chromosome fetuses. Since then, studies on its clinical significance especially the association with fetal chromosoamal abnormality never stop. The aim of this article was to review the literatures on this topic.%胎儿心内强回声光点于上个世纪80年代被人们发现而熟悉,其病理组织表现为心室内乳突肌的微小钙化灶.最初仅将其看做一种纯粹的良性发现.1992年Roberts和Genest发现16%的21三体胎儿、39%的13三体胎儿以及2%的染色体正常胎儿心室内有这种微小钙化灶.之后学者们开始对胎儿心内强回声光点的临床意义特别是与染色体异常的关系进行了大量的研究,现对其进行综述.

  3. Chromosome 12;15 rearrangements in patients with recurrent miscarriage

    Directory of Open Access Journals (Sweden)

    Nair S

    2006-01-01

    Full Text Available Background: An abnormal karyotype in either partner, especially featuring a translocation and/or inversion is considered to be a cause of recurrent miscarriages. It is generally assumed that recurrent miscarriage might be due to recurrent chromosomal abnormalities in the fetus due to a balanced aberration in one of the parents being inherited by the offspring in an unbalanced form. Aim: Evaluation of chromosomal rearrangements in couples with recurrent miscarriages. Materials and Methods: Peripheral blood was collected and lymphocyte cultures were set up. Slides prepared from the cell suspension were stained and screened for metaphases followed by karyotyping. Result: Balanced translocation was observed in the male partner in one case and in the female partners in the three other cases. Conclusion: Couples with recurrent miscarriage should be investigated for chromosomal rearrangements, thus helping in genetic counseling and providing the options for future pregnancies.

  4. 夫妇染色体核型异常所致复发性流产的治疗分析%Treatment analysis of recurrent miscarriage caused by abnormal chromosome karyotype

    Institute of Scientific and Technical Information of China (English)

    唐萍

    2015-01-01

    Objective To analyze the correlation of abnormal chromosome karyotype and recurrent abortion. Methods From January 2010 to January 2014,sixty hundrad and eighty four recurrent abortion couples were selected as the research object,the peripheral blood chromosome karyotype and the nucleotide polymorphisms were analyzed. Results Abnormal karyotype in recur-rent abortion couples for 155 cases,the total detection rate was 11. 3% . Eight-eight cases of abnormal chromosome karyotype women,the abnormal chromosome karyotype with balanced translocation(34. 4% ),robertsonian translocation(22. 7% )and nucleotide polymorphisms(29. 5% ),followed by inversion(11. 4% )and X chromosome inactivation(2. 3% ). Male chromo-some abnormality of nucleotide polymorphisms as the major type(37. 3% ),followed by balanced translocation(29. 9% ),rob-ertsonian translocation(12. 5% )and inversion(11. 9% ),the smallest proportion of Y chromosome abnormality(4. 5% ). Male and female subjects were significantly thrombophilia related genes,cell factor,KIR genes,the polymorphism of HLA genes. Conclusion Abnormal karyotype of dyeing and single nucleotide polymorphism is the main cause of recurrent miscarriage. The clinical diagnosis and treatment should check with a couple of chromosome karyotype and nucleotide polymorphism,and can as-sist the amniotic fluid puncture biopsy,and embryo heritage studies,so as to realize the eugenics.%目的:研究分析夫妇染色体核型异常与复发性流产的相关性。方法抽取2010年1月至2014年1月聊城市第二人民医院收治的684对复发性流产夫妇为研究对象,对其外周血进行染色体核型分析以及核苷酸多态性分析。结果复发性流产夫妇中染色体核型异常155例,总检出率为11.3%。染色体核型异常女性88例,其染色体核型异常以平衡易位(34.4%)、罗伯逊易位(22.7%)和核苷酸多态性(29.5%)为主,其次为倒位(11.4%)和 X 染色体失活(2.3%)。男性

  5. 泰国少精无精不育男性中Y染色体微缺失和染色体异常的发病率%Frequency of Y chromosome microdeletions and chromosomal abnormalities in infertile Thai men with oligozoospermia and azoospermia

    Institute of Scientific and Technical Information of China (English)

    T.Vutyavanich; W.Piromlertamorn; W.Sirirungsi; S.Sirisukkasem

    2007-01-01

    Aim:To investigate the possible causes of oligozoospermia and azoospermia in infertile Thai men, and to find the frequencies of Y chromosome microdeletions and cytogenetic abnormalities in this group. Methods: From June 2003 to November 2005, 50 azoospermic and 80 oligozoospermic men were enrolled in the study. A detailed history was taken for each man, followed by general and genital examinations. Y chromosome microdeletions were detected by multiplex polymerase chain reaction (PCR) using 11 gene-specific primers that covered all three regions of the azoospermic factor (AZFa, AZFb and AZFc). Fifty men with normal semen analysis were also studied. Karyotyping was done with the standard G- and Q-banding. Serum concentrations of follicle stimulating hormone (FSH), luteinizing hormone (LH), prolactin (PRL) and testosterone were measured by electrochemiluminescence immunoassays (ECLIA). Results: Azoospermia and oligozoospermia could be explained by previous orchitis in 22.3%, former bilateral cryptorchidism in 19.2%, abnormal karyotypes in 4.6% and Y chromosome microdeletions in 3.8% of the subjects. The most frequent deletions were in the AZFc region (50%), followed by AZFb (33%) and AZFbc (17%).No significant difference was detected in hormonal profiles of infertile men, with or without microdeletions.Conclusion: The frequencies of Y chromosome microdeletions and cytogenetic abnormalities in oligozoospermic and azoospermic Thai men are comparable with similarly infertile men from other Asian and Western countries.

  6. Comparative analysis of chromosomal abnormalities and prenatal ultrasonic characteristics of fetus in the second and third trimester%对照分析中晚孕胎儿染色体异常与产前超声特征

    Institute of Scientific and Technical Information of China (English)

    刘彦英; 丛淑珍; 李萍; 吴丽桑; 郭玉萍; 钱隽; 李谊; 许少兰

    2012-01-01

    To observe the ultrasonic characteristics of fetus with chromosomal abnormalities in the second and third trimester. Methods From Mar 2007 to Apr 2011, 31 fetuses with chromosomal abnormalities confirmed by amniotic fluid or umbilical cord blood puncture underwent prenatal diagnosis. The findings of prenatal ultrasound were documented in details. Results In 31 fetuses with chromosomal abnormalities, 12 were detected with 21-trisomy, 11 with 18-trisomy, 3 with 13-trisomy, 3 with 45, XO, and 2 with 47, XXX. Twenty-three of 31 fetuses were detected abnormalities with prenatal ultrasound, including 6 of 21 trisomy, 11 of 18-trisomy, 3 of 13-trisomy, and 3 of 45, XO, the detection rate was 74.1954 (23/31). Conclusion Different chromosomal diseases have different prenatal ultrasound characteristics. To improve the detection rate of fetal chromosomal abnormalities, combining analysis of multiple indicators is needed.%目的 探讨不同染色体异常胎儿的超声特征.方法 分析2007年3月-2011年4月接受产前检查且羊水或脐血穿刺结果均显示染色体异常的胎儿31胎,产前超声检查结果记录完整.结果 31胎染色体异常胎儿中,21-三体12胎,18-三体11胎,13-三体3胎,45,XO 3胎,47,XXX 2胎.产前超声检查共诊断23胎异常胎儿,包括21-三体6胎,18-三体11胎,13-三体3胎,45,XO 3胎,检出率为74.19%(23/31).结论 不同的染色体病超声特征不同,需结合多项指标分析,以提高染色体异常胎儿的检出率.

  7. Chromosomal Analysis of Couples with Repeated Spontaneous Abortions in Northeastern Iran

    Directory of Open Access Journals (Sweden)

    Saeedeh Ghazaey

    2015-04-01

    Full Text Available Background: Cytogenetic study of reproductive wastage is an important aspect in determining the genetic background of early embryogenesis. Approximately 15 to 20% of all pregnancies in humans are terminated as recurrent spontaneous abortions (RSAs. The aim of this study was to detect chromosome abnormalities in couples with RSAs and to compare our results with those reported previously. Materials and Methods: In this retrospective study, the pattern of chromosomal aberrations was evaluated during a six-year period from 2005 to 2011. The population under study was 728 couples who attended genetic counseling services for their RSAs at Pardis Clinical and Genetics Laboratory, Mashhad, Iran. Results: In this study, about 11.7% of couples were carriers of chromosomal aberrations. The majority of abnormalities were found in couples with history of abortion, without stillbirth or livebirth. Balanced reciprocal translocations, Robertsonian translocations, inversions and sex chromosome aneuploidy were seen in these cases. Balanced reciprocal translocations were the most frequent chromosomal anomalies (62.7% detected in current study. Conclusion: These findings suggest that chromosomal abnormalities can be one of the important causes of RSAs. In addition, cytogenetic study of families who experienced RSAs may prevent unnecessary treatment if RSA are caused by chromosomal abnormalities. The results of cytogenetic studies of RSA cases will provide a standard protocol for the genetic counselors in order to follow up and to help these families.

  8. Re: Fluorescence In Situ Hybridization Detects Increased Sperm Aneuploidy in Men with Recurrent Pregnancy Loss

    Directory of Open Access Journals (Sweden)

    Ranjith Ramasamy,

    2015-06-01

    Full Text Available Male factor infertility can be overcome with the use of assisted reproductive technologies and for this purpose the mostly intracytoplasmic sperm injection (ICSI was used. Although using sperm from men with relatively normal semen parameters with high-tech methods, many couples fail to achieve pregnancy or face recurrent pregnancy loss (RPL. In this study, the authors tried to find an answer for potential causes of RPL and in vitro fertilization (IVF failure by using fluorescence in situ hybridization (FISH analysis. FISH analysis was used to detect numerical abnormalities in sex chromosomes (X,Y and autosomes (13,18, 21 in ejaculated sperm. Significantly higher percentage of sperm aneuploidy was found in men with RPL within the sex chromosomes and chromosomes 18,13 and 21. Although men with normal sperm parameter, 40% of abnormal sperm aneuploidy was found in all the chromosomes analyzed. In addition to that, men with abnormal sperm density and motility had a higher percentage of sex chromosome aneuploidy than men with normal density and motility. In conclusion, sperm FISH analysis can be suggested in men with RPL and normal sperm density/motility to understand the reason of pregnancy failure. Also, this study showed that men with oligoasthenoteratozoospermia (OAT might have a greater percentage of sperm aneuploidy compared to those with normal sperm parameters.

  9. 新生儿先天性畸形伴染色体异常56例分析%Analysis of 56 congenital malformed neonates with Chromosomal abnormal

    Institute of Scientific and Technical Information of China (English)

    李卓园; 李勇

    2011-01-01

    目的 研究新生儿先天性畸形的临床与染色体异常核型特征,为提高产前诊断提供依据.方法 采用常规外周血培养及制备染色体,G显带核型分析.结果 56例先天性畸形中,染色体异常以21-三体最为多见(40例占71.43%),其次有18-三体及13-三体,同时还发现一些罕见的染色体异常.临床上,常以特殊面容表现最为突出.同时先心、唇腭裂等较严重畸形在三体型中较为常见.结论 染色体异常所致胎儿特殊异常表现,重点心血管,唇腭裂检查是提高产前诊断检出染色体异常的重要依据.%Objective: To investigate the clinical manifestations of neonates and characteristics of its chromosomal abnormal so as to supply reference for prenatal diagnosis. Methods: Chromosome preparations were made from peripheral blood lymphocytes. Karyotypes were analyzed by G - banding technique. Results: Among 56 cases, 40 cases were found having trisomy 21 ( 71.43% ), others were trisomy 18, trisomy 13 and infrequent chromosomal abnormal. The patients mainly presented unusual appearance, congenital heart disease and cheilopalatognathus. Conclusion: Examination of cardiovascular diagnosis and cheilopalatognathus can enhance prenatal diagnosis for Chromosomal abnormal.

  10. Status of Toxoplasma gondii infection in pregnant women with an abnormal pregnancy history%异常妊娠史孕妇弓形虫感染情况调查

    Institute of Scientific and Technical Information of China (English)

    刘长生

    2011-01-01

    Fluorescent quantitation PCR (FQ-PCR) was used to detect toxoplasmosis infection in 419 pregnant women with an abnormal pregnancy history and 178 pregnant women with a normal pregnancy history. Pregnant women who tested positive also received effective treatment. Women with an abnormal pregnancy history tested positive for toxoplasmosis at a rate of 22. 2%(93/419) and while women with a normal pregnancy history did so at a rate of 4. 49% (8/178) (x2 =23. 44, P0. 05). After treatment, 85. 14% of the women with a toxoplasmosis infection (86/101) no longer tested positive for the infection.%采用实时荧光定量PCR调查了419例有异常妊娠史孕妇和178例无异常妊娠史孕妇(对照组)弓形虫感染情况,结果两组孕妇弓形虫感染率分别为22.20%(93/419)和4.49 %(8/178),差异有统计学意义(X2=23.44,P0.05).101例弓形虫感染者经药物治疗后转阴率为85.14% (86/101).

  11. Retrospective Analysis of the Relationship between the Outcomes of Chromosome Abnormalities and Congenital Malformations in 99 Cases%胎儿染色体异常与先天畸形类型关系的研究

    Institute of Scientific and Technical Information of China (English)

    张璘; 任梅宏; 张晓红; 宋桂宁; 王建六

    2013-01-01

    目的:通过对产前诊断中确诊的染色体异常并伴有先天器官畸形的相关资料分析,总结胎儿染色体异常与畸形部位和畸形比例的关系,为提高产前诊断率提供理论依据.方法:回顾性分析2006年1月至2011年12月在北京大学人民医院产前诊断中心诊断并随访证实的染色体异常伴先天畸形的99例患者的临床资料,综合分析不同畸形分类和染色体异常的关系及比率.结果:99例患儿中,常染色体异常76例(76.77%),其中常染色体三体征64例(21-三体38例,18-三体12例,13-三体8例,14-三体1例,16-三体3例,8-三体1例,22-三体1例),常染色体结构异常12例(染色体部分缺失4例,染色体部分三体征8例);性染色体数目或结构异常21例(男性性染色体异常12例,女性性染色体异常9例);三倍体2例.99例患儿中75.76% (75/99)存在1个或多个畸形,64.65%(64/99)同时存在2个或2个以上畸形,19.19%(19/99)同时存在5个或5个以上畸形;65.66% (65/99)伴有不同程度心脏畸形,61.62% (61/99)存在心外脏器畸形.结论:染色体异常可伴有众多基因的增加或减少,可同时伴有多种脏器畸形,不同染色体异常伴发脏器畸形的类型及比率也各不同.建议在产前检查中可疑胎儿脏器畸形者,应进一步行产前细胞遗传学诊断以排除染色体异常的患儿.%Objective:To analyse the clinical data of cases with congenital malformations and chromosome abnormalities,and to investigate the association between congenital malformations and chromosome abnormalities prenatal cases,and to provide base for improving prenatal diagnosis. Methods:The clinical data of cases with congenital malformations and chromosome abnormalities during Jan 2006 to Dec 2011 in the Center of Prenatal Diagnosis of Beijing University People's Hospital were analyzed retrospectively. The associations between the chromosomal karyotypes and the types of congenital malformations were

  12. Genetics Home Reference: ring chromosome 20 syndrome

    Science.gov (United States)

    ... 3 links) Encyclopedia: Chromosome Encyclopedia: Epilepsy Health Topic: Epilepsy Genetic and Rare Diseases Information Center (1 link) Ring chromosome 20 Additional NIH Resources (2 links) National Human Genome Research Institute: Chromosome Abnormalities National Institute of ...

  13. Genetics Home Reference: ring chromosome 14 syndrome

    Science.gov (United States)

    ... Encyclopedia: Chromosome Health Topic: Developmental Disabilities Health Topic: Epilepsy Genetic and Rare Diseases Information Center (1 link) Ring chromosome 14 Additional NIH Resources (2 links) National Human Genome Research Institute: Chromosome Abnormalities National Institute of ...

  14. 结球甘蓝减数分裂中染色体异常行为分析%Analysis on Chromosome Abnormal Behavior in Meiosis of Brassica oleraces var. Capitata L.

    Institute of Scientific and Technical Information of China (English)

    邵治亮

    2009-01-01

    对300多个纯合二倍体结球甘蓝花粉母细胞减数分裂各时期的染色体进行观察,发现自然条件下纯合二倍体甘蓝花粉母细胞在减数分裂的双线期、终变期以及中期Ⅰ出现了高频率的1~3个四价体和中期Ⅰ有高频率的1~3对染色体提早分离和滞后分离2种异常现象,探讨了甘蓝结实率不高与染色体异常行为之间的关系.%The chromosomes from more than 300 pollen mother cells of homozygous diploid of Brassica oleraces var. Capitata L were observed in every period of meiosis. It was found that altofrequent 1-3 quadrivalent appeared in diplotene, diakinesis and metaphase I of meiosis of pollen mother cells of B. oleraces var. Capitata under natural conditions, and 2 kinds of abnormal phenomenas such as altofrequent 1-3 pairs of chromosomes separated early or late in metaphase I of meiosis. The relationship between low seed setting rate of B. oleraces var. Capitata and chromosome abnormal behavior was explored.

  15. First-Trimester Combined Screening Is Effective for the Detection of Unbalanced Chromosomal Translocations at 11 to 12 Weeks of Gestation

    OpenAIRE

    Huang, ShangYu; Chang, Chialin; Cheng, PoJen; Hsiao, ChingHua; Soong, YungKuei; Duan, Tao

    2014-01-01

    The first trimester combined screening, which analyzes fetal nuchal translucency and levels of free β-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein A (PAPP-A) in maternal serum, is routinely used to detect abnormal pregnancies associated with Down syndrome and other trisomy aneuploidies. Based on the hypothesis that major chromosomal translocations could lead to similar biochemical and developmental outcomes during early embryo development, we compared these mar...

  16. 妊娠期糖代谢异常对妊娠结局影响%Influence of abnormal glucose tolerance during pregnancy on pregnanty outcome

    Institute of Scientific and Technical Information of China (English)

    王娇; 许榕仙; 张雪芹; 李健

    2012-01-01

    Objective To investigate the impact of gestational diabetes mellitus (GDM) and gestational impaired glucose tolerance (GIGT) on pregnant women and newborns. Methods Totally 250 pregnant women hospitalized for their deliveries and diagnosed with GDM( 105) or GIGT( 145) were recruited in the study. And 234 pregnant women witti normal blood glucose level were taken as control group at the same time. The pregnancy outcomes of the three groups were recorded and analyzed. Results There were significant differences among the three groups in the incidences of hepatitis B virus (HBV) positive (P - 0. 009) , caesarean birth (P = 0. 000), gestational hypertension (P = 0. 002), intrahepatic cholestasis of pregnancy (P = 0. 004), preterm delivery (P = 0.027 ) , small-for-date infant (P = 0. 011), neonatal hypoglycemia (P = 0. 007), neonatal pneumonia (P = 0. 001), and neonate hospitalization (P = 0. 000) among the three groups. Compared with those of the control group, there were significantly increased risks for HBV positive (P =0. 041) , caesarean birth ( P = 0. 000) .gestational hypertension ( P =0.001) , intrahepatic cholestasis of pregnancy (P = 0.009),preterm delivery(/5=0. 012) ,small-for-date infant(P =0. 019) .neonatal hypoglycemia (P = 0, 03) .neonatal pneumonia( P = 0. 000) , and neonatal intensive care unit (NICU) admission (P = 0. 000) in the GDM group. The pregnant women in GIGT group showed higher risks of HBV positive ( P = 0. 041) , caesarean birth ( P = 0. 000) , gestational hypertension (P = 0. 021) , intrahepatic cholestasis of pregnancy ( P - 0. 021) , preterm delivery (P = 0. 048 ) , neonatal hypoglycemia( P = 0. 021), neonatal pneumonia ( P = 0. 004), and NICU admission (P = 0. 000). Conclusion GDM and GIGT could cause undesirable pregnancy outcomes. The perinatal screening for gestational abnormal glucose metabolism and standardized treatment for GDM and GIGT should be strengthened to improve pregnanty outcomes a-mong the wonen.%目的 研究妊娠期

  17. First-trimester maternal serum alpha-fetoprotein as a marker for fetal chromosomal disorders. Dutch Working Party on Prenatal Diagnosis.

    Science.gov (United States)

    Van Lith, J M

    1994-10-01

    We evaluated first-trimester maternal serum alpha-fetoprotein (MS-AFP) as a marker for fetal chromosomal disorders. The multicentre study was performed under the auspices of the Dutch Working Party on Prenatal Diagnosis. MS-AFP was measured in 2404 normal pregnancies and 72 chromosomally abnormal pregnancies. The median multiple of the normal median (MOM) in 32 Down's syndrome pregnancies was 0.83 with a 95 per cent confidence interval ranging from 0.60 to 1.04. The difference between the distributions of first-trimester MS-AFP in normal and Down's syndrome pregnancies was statistically significant (t-test: t = 2.34, P MOM = 1.26; seven cases with sex chromosome abnormalities, MOM = 1.07; 22 cases with a chromosomal mosaic pattern in chorionic villi, MOM = 1.08). We conclude that first-trimester MS-AFP can discriminate between normal and Down's syndrome pregnancies, but is not an effective marker. First-trimester MS-AFP has no value as a marker for other fetal chromosomal disorders. PMID:7534926

  18. Prenatal diagnosis of single umbilical artery: implications for chromosomal abnormalities and neonatal outcome%胎儿单脐动脉与胎儿染色体异常疾病的产前诊断

    Institute of Scientific and Technical Information of China (English)

    常清贤; 陈翠华; 钟梅; 裘毓雯; 肖超群; 黄启涛; 余艳红

    2013-01-01

    Objective To investigate the implications of a prenatal diagnosis of single umbilical artery (SUA) for chromosomal abnormalities and neonatal outcomes. Methods From January, 2008 to June, 2012, color Doppler ultrasound identified 44 fetuses with SUA. Prenatal diagnoses with amniocentesis or umbilical blood sampling were subsequently ordered for routine chromosome karyotyping and the newborns were followed up for assessing the neonatal outcomes. Results Of all the 44 fetuses, 24 had uncomplicated SUA, and 20 had other concurrent abnormalities (including 8 with abnormal ultrasound soft indexes and 12 with chromosomal abnormalities). The two groups of fetuses showed significant differences in gestational weeks at delivery and incidence of chromosomal abnormalities but not in neonatal weight, placenta weight or APGAR score. Conclusions Fetuses with a prenatal diagnosis of SUA and other development abnormities need to undergo prenatal chromosomal examination. For fetuses with uncomplicated SUA, careful ultrasound examination is necessary to avoid missed diagnosis of potential congenital abnormalities.%目的 分析单脐动脉是否合并其他异常时与胎儿染色体疾病的关系及新生儿预后.方法 对本院产前诊断中心2008年1月~2012年6月通过彩色多普勒超声诊断为单纯性单脐动脉及单脐动脉合并其他异常的胎儿,行羊膜腔穿刺取羊水及脐静脉穿刺取脐带血,常规进行染色体核型分析并对出生后的婴儿追踪随访观察.结果 经超声诊断为单脐动脉进行染色体检查的孕妇共44名,其中单纯性单脐动脉24例;单脐动脉合并其他异常20例,其中单脐动脉合并超声软指标异常8例,单脐动脉合并胎儿发育异常12例.单纯性单脐动脉组(n=24)与单脐动脉合并其他异常组(n=20)间分娩孕周和胎儿染色体异常的发生率有显著性差异.胎儿出生体质量,出生后APGAR评分及胎盘质量间,两组无明显差异.结论 对超声检查诊

  19. Exosome-delivered microRNAs of “chromosome 19 microRNA cluster” as immunomodulators in pregnancy and tumorigenesis

    Directory of Open Access Journals (Sweden)

    Bullerdiek Jörn

    2012-07-01

    Full Text Available Abstract Background Structural rearrangements of chromosomal band 19q13 are a non-random cytogenetic abnormality in thyroid adenomas and adenomatous goiters and lead to an expression of miRNAs of the chromosome 19 microRNA cluster C19MC. Normally, expression of these miRNAs is silenced except for embryonic stem cells and the placenta where they represent the majority of miRNAs not only in the trophoblast but also in exosomes derived from it. Presentation of the hypothesis We have advanced the hypothesis that as part of the feto-maternal communication miRNAs of C19MC serve immunomodulatory functions in the placenta and confer a growth advantage to thyroid nodules by protecting them against autoimmune attacks. More precisely, the exosomes containing these miRNAs may specifically target immune cells in their local environment as well as systemically by transferring their cargo to recipient cells. Within these target cells the transferred miRNAs can interact with mRNAs of the recipient cells thereby suppressing their immune-specific functions. Testing the hypothesis Experiments used to demonstrate the immunomodulatory capacity of placenta-derived exosomes can be modified by transfecting the target cells with those miRNAs of C19MC represented in placental exosomes. Implications of the hypothesis Mimics of C19MC-derived miRNAs might develop to useful drug candidates for the treatment of autoimmune disease as e.g. rheumatoid arthritis and Sjögren’s syndrome and for the prevention of transplant rejection. In case of tumor entities with elevated expression of C19MC miRNAs these miRNAs may be interesting targets for treatment with appropriate antagonists.

  20. A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family.

    Science.gov (United States)

    Delague, Valérie; Bareil, Corinne; Bouvagnet, Patrice; Salem, Nabiha; Chouery, Eliane; Loiselet, Jacques; Mégarbané, André; Claustres, Mireille

    2002-03-01

    Congenital cerebellar ataxias are a heterogeneous group of non-progressive disorders characterized by hypotonia and developmental delay followed by the appearance of ataxia, and often associated with dysarthria, mental retardation, and atrophy of the cerebellum. We report the mapping of a disease gene in a large inbred Lebanese Druze family, with five cases of a new form of non-progressive autosomal recessive congenital ataxia associated with optic atrophy, severe mental retardation, and structural skin abnormalities, to a 3.6-cM interval on chromosome 15q24-15q26.

  1. The Feasibility of Lethal Induction of Labor in Late Pregnancy for Fetus Abnormalities%对妊娠晚期畸形胎儿实施致死性引产的可行性分析

    Institute of Scientific and Technical Information of China (English)

    庹琳; 周洪柱

    2011-01-01

    Many parents require terminating pregnancy for fetal anomaly in late pregnancy.Some of them may have disputes with hospital for abnormal fetus becoming living infant with physical handicap after induction of labor.In order to decrease disputes and benefit society, the authors suggest to lethal induction of labor to ensure the fetus cardiac arrest before or intra-induction of labor by medical approach.The authors analyze the feasibility of lethal induction of labor in late pregnancy for fetus abnormalities through point of medicine, ethic and law after the demand of parents.%在妊娠晚期发现胎儿畸形,许多胎儿父母要求引产.一些患儿父母因为在医院引产出活体畸形婴儿而与医院产生纠纷.本文考虑采用医疗方法在引产前或引产中使胎儿心跳停止,确保引产出的胎儿为死婴(即致死性引产)以减少纠纷,利于社会.本文试图从医疗、伦理、法律的角度,探讨在胎儿父母要求下,对妊娠晚期畸形胎儿实施致死性引产的可行性.

  2. OC01.03: Atypical karyotypic abnormalities not identified through NIPT: the value of identifying fetal anomalies at the first or second trimester scan?

    DEFF Research Database (Denmark)

    Petersen, Olav Bjørn; Ekelund, Charlotte; Hyett, Jon;

    2015-01-01

    Objectives: Using a population based database including >200,000 Danish pregnancies, we have previously shown that 23% of all phenotypically important chromosomal abnormalities would not be diagnosed using currently available NIPT techniques. The aim of the current study was to assess how many...... diagnosed in the first and second trimester, and prenatal and postnatal karyotypes were collected from the Danish Fetal Medicine database. Karyotypes were classified according to whether the chromosome anomaly would have been detected by NIPT, and whether they were likely to affect phenotype Results: c......FTS was completed in 193,638 pregnancies. 10,205 (5.3%) had a karyotype 1,122 (11.0%) were abnormal and 262 (23%) would have been missed by standard NIPT. At the first trimester scan, in thirty-five (13,4%) of these pregnancies a structural anomaly (n=14) or NT above 3.5 mm (n=21) as isolated finding was found...

  3. 用FISH技术分析一例表型异常的 染色体平衡易位%Analysis of a case of balanced chromosome translocation and phenotypic abnormality by fluorescence in situ hybridization

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    Objective  To delineate the chromosome structural aberration in a case of chromosome translocation by fluorescence in situ hybridization(FISH) technique and precisely identify the breakpoints. Methods  The whole chromosome point 5(wcp5) and locus-specific probes derived from yeast artificial chromosomes(YACs) mapping the nearby region of breakpoints were used to delineate the translocation t(5;10) found by high resolution G-banding examination in a case with congenital abnormality. Results A balanced translocation was confirmed and the breakpoints were located in the 1.5 Mb area on chromosome 5 and within the approximately 3 Mb interval on chromosome 10. Conclusion  The phenotypic abnormality might result from the disruption of disease-associated gene(s) or microrearrangement(s) on the site of breakpoint(s).%目的应用荧光原位杂交技术对1例染色体结构异常患者进行分析,阐明结构异常性质,并精细定位断点。方法对一先天表型异常经细胞遗传学检查有t(5;10)的病例,分别选用5号染色体探针池以及用酵母人工染色体作为DNA来源制备的断点区位点特异性探针,进行荧光染色体原位杂交。结果证实患者染色体异常属平衡易位,并将5号和10号染色体的断点分别定位到1.5 Mb及约3 Mb的范围。结论患者的先天性表型异常可能由断点处染色体细微重排或致病基因断裂所致。

  4. Fetal sex determination in the first trimester of pregnancy using a Y chromosome-specific DNA probe

    Energy Technology Data Exchange (ETDEWEB)

    Zeng, Y.; Huang, S.; Chen, M.; Huang, Y.; Zhang, M.; Dong, J.; Ku, A.; Xu, S.

    1987-05-01

    Prenatal determination of fetal sex is important for the prevention of X-linked disorders such as hemophilia, Lesch-Nyhan syndrome and Duchenne muscular dystrophy. The complex procedures of prenatal diagnosis for X-linked disorders are unnecessary if the fetus is female, because usually no clinical symptoms ever appear in female. pY 3.4 probe used in this work for sex determination is a 3.4 kilobase human repeat sequence. The probe is specific for the Y chromosome of males and can be used for sex determination. The other prove pBLUR used in this paper as control is a widely dispersed, highly repeated human Alu family DNA sequence, represented equally in male and female DNA. On the basis of the relative densities of the autoradiographic spots produced by hybridization of fetal DNA with pY3.4 and pBLUR, the sex of fetus can be clearly identified. Further the authors can determine the radioactive intensity (cpm) of the hybridized DNA spots and the ratio of hybridization with Y3.4 to pBLUR (Y3.4/pBLUR x 10). Results show that the hybridization ratio of DNA from chorionic villi of male (1.03 +/- 0.24) is significantly higher than that of female (0.16 +/- 0.09). Therefore, sex determination of the fetus can be made, based on the ratio of pY3.4/pBLUR x 10. If necessary they can also use Southern hybridization with pY 3.4 probe of DNA isolated from chorionic villi to confirm the result of dot hybridization.

  5. Searching for Electrical Properties, Phenomena and Mechanisms in the Construction and Function of Chromosomes

    Directory of Open Access Journals (Sweden)

    Ivan Kanev

    2013-03-01

    Full Text Available Our studies reveal previously unidentified electrical properties of chromosomes: (1 chromosomes are amazingly similar in construction and function to electrical transformers; (2 chromosomes possess in their construction and function, components similar to those of electric generators, conductors, condensers, switches, and other components of electrical circuits; (3 chromosomes demonstrate in nano-scale level electromagnetic interactions, resonance, fusion and other phenomena similar to those described by equations in classical physics. These electrical properties and phenomena provide a possible explanation for unclear and poorly understood mechanisms in clinical genetics including: (a electrically based mechanisms responsible for breaks, translocations, fusions, and other chromosomal abnormalities associated with cancer, intellectual disability, infertility, pregnancy loss, Down syndrome, and other genetic disorders; (b electrically based mechanisms involved in crossing over, non-disjunction and other events during meiosis and mitosis; (c mechanisms demonstrating heterochromatin to be electrically active and genetically important.

  6. Incidence of legal abortions and congenital abnormalities in Hungary

    International Nuclear Information System (INIS)

    The annual and monthly distributions of congenital abnormalities and pregnancy outcomes as confounding factors were evaluated in Hungary in reflection of the accident at the Chernobyl reactor. The different congenital abnormality entities and the components of fetal radiation syndrome did not show a higher rate after the Chernobyl accident in the data-set of the Hungarian Congenital Abnormality Registry. Among confounding factors, the rate of induced abortions did not increase after the Chernobyl accident in Hungary. In the 9th month after the peak of public concern (May and June, 1986) the rate of livebirths decreased. Three indicator conditions: 15 sentinel anomalies as indicators of germinal dominant gene mutations, Down syndrome as an indicator of germinal numerical and structural chromosomal mutations, and unidentified multiple congenital abnormalities as indicators of germinal dominant gene and chromosomal mutations were selected from the material of the Hungarian Congenital Abnormality Registry. Diagnoses were checked, familial and sporadic cases were separated and only the sporadic cases were evaluated. The analysis of indicator conditions did not reveal any measurable germinal mutagenic effect of the Chernobyl accident in Hungary

  7. Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy.

    OpenAIRE

    Beggs, A H; Neumann, P E; Arahata, K; Arikawa, E; Nonaka, I; Anderson, M S; Kunkel, L. M.

    1992-01-01

    Abnormalities of dystrophin, a cytoskeletal protein of muscle and nerve, are generally considered specific for Duchenne and Becker muscular dystrophy. However, several patients have recently been identified with dystrophin deficiency who, before dystrophin testing, were considered to have Fukuyama congenital muscular dystrophy (FCMD) on the basis of clinical findings. Epidemiologic data suggest that only 1/3500 males with autosomal recessive FCMD should have abnormal dystrophin. To explain th...

  8. Xp11.2 translocation renal cell carcinoma occurring during pregnancy with a novel translocation involving chromosome 19: a case report with review of the literature

    Directory of Open Access Journals (Sweden)

    Surti Urvashi

    2009-05-01

    , this adult case occurring during pregnancy with a novel translocation involving chromosome 19 followed an indolent clinical course.

  9. Fertility and Pregnancy in Turner Syndrome.

    Science.gov (United States)

    Bouet, Pierre-Emmanuel; Godbout, Ariane; El Hachem, Hady; Lefebvre, Maude; Bérubé, Lyne; Dionne, Marie-Danielle; Kamga-Ngande, Carole; Lapensée, Louise

    2016-08-01

    Turner syndrome (TS) occurs in one in 2500 live female births and is one of the most common chromosomal abnormalities in women. Pregnancies in women with TS, conceived with either autologous or donated oocytes, are considered high risk because of the associated miscarriages and life-threatening cardiovascular complications (aortic dissection, severe hypertension). Therefore, it is imperative to conduct a full preconception evaluation and counselling that includes cardiac assessment with Holter blood pressure monitoring, echocardiography, and thoracic MRI. Abnormal findings, such an aortic dilatation, mandate close monitoring throughout the pregnancy and the immediate postpartum period and could possibly contraindicate pregnancy. When in vitro fertilization using donated oocytes is performed in these women, only a single embryo should be transferred. Women with a Turner mosaic karyotype appear to have a lower risk of obstetrical and cardiovascular complications but should nevertheless undergo the full preconception evaluation. In this article, we offer guidelines on the management of women with TS in the preconception period, during pregnancy, and postpartum. PMID:27638981

  10. Fertility and Pregnancy in Turner Syndrome.

    Science.gov (United States)

    Bouet, Pierre-Emmanuel; Godbout, Ariane; El Hachem, Hady; Lefebvre, Maude; Bérubé, Lyne; Dionne, Marie-Danielle; Kamga-Ngande, Carole; Lapensée, Louise

    2016-08-01

    Turner syndrome (TS) occurs in one in 2500 live female births and is one of the most common chromosomal abnormalities in women. Pregnancies in women with TS, conceived with either autologous or donated oocytes, are considered high risk because of the associated miscarriages and life-threatening cardiovascular complications (aortic dissection, severe hypertension). Therefore, it is imperative to conduct a full preconception evaluation and counselling that includes cardiac assessment with Holter blood pressure monitoring, echocardiography, and thoracic MRI. Abnormal findings, such an aortic dilatation, mandate close monitoring throughout the pregnancy and the immediate postpartum period and could possibly contraindicate pregnancy. When in vitro fertilization using donated oocytes is performed in these women, only a single embryo should be transferred. Women with a Turner mosaic karyotype appear to have a lower risk of obstetrical and cardiovascular complications but should nevertheless undergo the full preconception evaluation. In this article, we offer guidelines on the management of women with TS in the preconception period, during pregnancy, and postpartum.

  11. Research progress of chromosomal abnormalities in non-Hodgkin's lymphoma%非霍奇金淋巴瘤常见染色体异常的研究进展

    Institute of Scientific and Technical Information of China (English)

    朱锋

    2012-01-01

    Non-Hodgkin's lymphoma (NHL) is a heterogeneous disease from various resources and biological characters. Currently, about 90 % of NHL is relative to chromosomal abnormalities. This review emphasizes chromosomal abnormalities in non-Hodgkin's lymphoma, which can not only help understanding NHL genesis,but also is useful for diagnosis on early stage and proper treatment.%非霍奇金淋巴瘤(NHL)是一组来源不同、生物学特征各异的血液系统常见恶性肿瘤.目前发现约90%的恶性淋巴瘤患者涉及克隆性染色体异常,其中许多染色体异常与淋巴瘤组织学及免疫学亚型有关.文章就NHL常见染色体异常的研究进展作一综述,以了解NHL的发病机制,并为其早期诊断、判断预后和合理治疗提供帮助.

  12. Aneuploidy Screening in Pregnancy.

    Science.gov (United States)

    Dashe, Jodi S

    2016-07-01

    Prenatal aneuploidy screening has changed dramatically in recent years with increases in the types of chromosomal abnormalities reliably identified and in the proportion of aneuploid fetuses detected. Initially, screening was available only for trisomies 21 and 18 and was offered only to low-risk pregnancies. Improved detection with the quadruple- and first-trimester multiple marker screens led to the option of aneuploidy screening for women 35 years of age and older. Cell-free DNA tests now screen for common autosomal trisomies and sex chromosome aneuploidies. Cell-free DNA screening is particularly effective in older women because of higher positive predictive values and lower false-positive rates. Integrated first- and second-trimester multiple marker tests provide specific risks for trisomies 21, 18, and possibly 13, and may detect an even wider range of aneuploidies. Given current precision in risk assessment, based on maternal age and preferences for screening or diagnostic tests, counseling has become more complex. This review addresses the benefits and limitations of available aneuploidy screening methods along with counseling considerations when offering them. PMID:27275786

  13. Establishment of a rapid technical assessment of sex chromosome numerical abnormality in spermatozoa%快速检测精子性染色体分析技术的建立

    Institute of Scientific and Technical Information of China (English)

    乐威; 钱君海; 赵华颖; 袁涛; 吴登龙; 章劲夫

    2011-01-01

    Objective To establish a rapid method to analyze the numerical abnormality of chromosome X and Y in spermatozoa from the healthy males by using two-color fluorescence in situ hybridization( FISH) .Methods Fluorescence in situ hybridization was carried out by using centromeric probes targeting chromosomes, including X and Y upon the sperm samples harvested from 7 healthy men with normal semen quality.The frequency of numerical abnormality ( aneuploidy, diploidy) was rated in each sample.Results A total of 10 078 sperm cells were counted.The total hybridization rate was 99.000% with ( 49.789 ± 1.346 ) % for chromosome X and (48.814 ± 1.296)% for chromosome Y.Abnormality in these samples included XX-, XY-, and YY-typed chromosomes, respectively with incidence of (0.110 ±0.053 ) % , (0.222 ±0.077)% , and(0.094 ±0.038) % .Conclusion A rapid and efficient method has been established to analyze the numerical abnormality in sperm sex chromosomes by using fluorescence in situ hybridization.This method may be adopted to examining genetically the quality of spermatozoa and to estimate male's infertility.%目的 建立一种应用双色荧光原位杂交技术快速分析正常男性精子XY染色体数目及异常率的方法.方法 采用X、Y号染色体着丝粒探针对7例健康男性精子样本进行荧光原位杂交实验,检测精子XY染色体数目异常情况(非整倍体,双倍体).结果 计数10078个精子,杂交率99.00%.其中X染色体杂交率为(49.789±1.346)%,Y染色体杂交率为(48.814±1.296)%,精子中双体类型为XX、XY、YY,其中XX杂交率为(0.110±0.053)%,XY杂交率为(0.222±0.077)%,YY杂交率为(0.094±0.038)%.结论 采用荧光原位杂交技术建立了一种能够快速高效分析精子染色体数目异常的检测方法,可作为精子质量遗传学检测手段,应用于男性不育症的临床检测.

  14. Preimplantation Genetic Diagnosis and Natural Conception: A Comparison of Live Birth Rates in Patients with Recurrent Pregnancy Loss Associated with Translocation

    OpenAIRE

    Shinichiro Ikuma; Takeshi Sato; Mayumi Sugiura-Ogasawara; Motoi Nagayoshi; Atsushi Tanaka; Satoru Takeda

    2015-01-01

    Background Established causes of recurrent pregnancy loss (RPL) include antiphospholipid syndrome, uterine anomalies, parental chromosomal abnormalities, particularly translocations, and abnormal embryonic karyotypes. The number of centers performing preimplantation genetic diagnosis (PGD) for patients with translocations has steadily increased worldwide. The live birth rate with PGD was reported to be 27-54%. The live birth rate with natural conception was reported to be 37-63% on the first ...

  15. 鼻咽癌染色体1p末端结构异常及其临床意义的初步研究%Structural abnormalities of chromosome 1p termination in nasopharyngeal carcinoma and its clinical implications

    Institute of Scientific and Technical Information of China (English)

    黄铁军; 黄必军; 张林杰; 黄楚文; 梁启万; 方嬿

    2004-01-01

    BACKGROUND:Correlations between the structural abnormalities of chromosome 1pter in nasopharyngeal carcinoma(NPC) and its tumorigenesis and clinical significance are still unclear. OBJECTIVE: To investigate the correlations between the structural abnormalities of chromosome 1pter in NPC and the tumorigenesis of NPC. DESIGN:A retrospective study was performed to the control group according to the diagnosis. SETTING and PARTICIPANTS: The experiment was collected and completed in Reaearch Department of Sun Yat-Sen Cancer Center.Biopsy specimens from the nasopharynx of 65 cases of pathologically confirmed primary NPC without any therapy in the Sun Yat-Sen Univrsity Cancer Center were collected between the year 1998 and 2000 to survey. INTERVENTION: After the purification of cancerous cells from NPC biopsies with many noncancerous lymphocytes, interphase fluorescent in situ hybridization(FISH) and PCR-LOH/MI analysis of the somatic alterations of chromosomes 1pter in 65 cases of NPC biopsies were performed by using 1pter-related probe, TelVysion 1p, and telomere-linked microsatellite polymorphism site, D1S243,respectively. MAIN TOUCOME MEASURES: The abnormalities such as chromosome deletion, amplification and microsatellite instabilities(MI) and their clinical implications were examined and investigated. RESULTS:The somatic alterations of chromosome 1pter of NPC were detected in 20 of 65 cases with NPC, 8 of which showed allelic deletion,7 amplification and 5 both simultaneously.In available 44 patients with clinical stages, 2 of the 4 NPC cases in the early clinical stage were proved to be aberrations in chromosome 1pter, whereas 30.0% (12/40) of NPC patients in advanced clinical stage showed somatic structural aberrations of chromosome 1pter(χ 2=0.0655,P >0.05).PCR-LOH/MI analysis indicated that, out of the matched 31 NPC biopsies,16 had detectable aberrations, including 13 microsatellite instability(MI),2 homozygous deletion(HD) and 1 loss of heterozygosity

  16. Application of FISH in prenatal diagnosis of chromosome number abnormality in amniotic fluid cells%FISH在产前羊水细胞染色体数目异常诊断中的应用观察

    Institute of Scientific and Technical Information of China (English)

    张艳丽; 李华锋; 高刚

    2011-01-01

    Objective To observe effect of fluorescence in situ hybridization(FISH) on prenatal diagnosis of abnormal number of chromosomes in amniotic fluid cells. Methods The amniotic fluid of 1 121 cases of pregnant women with down syndrome screening in high-risk or age higher than 35 years old, were got by amniocentesis, and udenvent rapid prenatal diagnosis by FISH. Then the G banding karyotypes from standard cytogenetic analysis after cultured amniotic fluid cells were compared to the FISH results. Results 16 cases were found abnormal result, including 7 cases of trisomy 21 , 4 cases of trisomy 21, and other 5 cases with abnormal. It was consistent with G banding karyotypes results. Conclusion Prenatal diagnosis of chromosome humber sbnormality by FISH is satisfactory.%目的 观察应用荧光原位杂交( FISH)技术产前诊断羊水细胞染色体数目异常的效果.方法 唐氏综合征筛查高危或高龄(≥35岁)孕妇1 121例,经腹部穿刺抽取羊水,应用FISH技术进行羊水细胞染色体数目检测,并将其结果与羊水细胞常规G显带核型分析结果作比较.结果 均获得诊断结果,发现16例异常胎儿,其中7例为21三体,4例为18三体,5例为其他异常.FISH检测与核型分析结果一致.结论 用FISH产前诊断羊水细胞染色体数目异常效果满意.

  17. Cytogenetic studies in couples experiencing repeated pregnancy losses.

    Science.gov (United States)

    De Braekeleer, M; Dao, T N

    1990-07-01

    A computerized database generated from the literature on cytogenetic studies in couples experiencing repeated pregnancy losses has been set up at the University of Quebec at Chicoutimi. At the present time, it contains data on 22,199 couples (44,398 individuals). The statistical analyses showed a relationship between the distribution of the chromosome abnormalities and the number of abortions. An uneven distribution of the chromosomal structural rearrangements according to the sex of the carrier was found (P less than 0.05). Overall, 4.7% of the couples ascertained for two or more spontaneous abortions included one carrier. It also appeared that only translocations (both reciprocal and Robertsonian) and inversions were associated with a higher risk of pregnancy wastage. Therefore, genetic counselling should be offered to these couples and investigations performed on their extended families.

  18. Meiotic abnormalities in metaphase I human spermatocytes from infertile males: frequencies, chromosomes involved, and the relationships with polymorphic karyotype and seminal parameters

    OpenAIRE

    Zaida Sarrate; Francesca Vidal; Joan Blanco

    2014-01-01

    The aim of this study was to look in depth at the relationship between meiotic anomalies and male infertility, such as the determination of the chromosomes involved or the correlation with patient features. For this purpose, a total of 31 testicular tissue samples from individuals consulting for fertility problems were analyzed. Metaphase I cells were evaluated using a sequential methodology combining Leishman stained procedures and multiplex fluorescence in situ hybridization protocols. The ...

  19. The relationship between high risk of prenatal serological screening for Down's syndrome and chromosomal abnormalities%唐氏综合征产前血清学筛查高风险与染色体异常的关系

    Institute of Scientific and Technical Information of China (English)

    吴坚柱; 陈宝江; 陈健生; 谢英俊; 林少宾

    2011-01-01

    摘要;目的 探讨联合高龄和超声异常因素对唐氏综合征产前血清学筛查检出染色体异常的影响.方法 对2005年1月至2010年4月1598例因唐氏综合征产前血清学筛查高风险来中山大学附属第一医院就诊的患者行胎儿染色体核型分析,分成血清学筛查高风险组、血清学筛查高风险合并高龄组、血清学筛查高风险合并超声异常组和血清学筛查高风险合并高龄、超声异常组4组,分析和比较各组染色体异常检出情况.结果 血清学筛查高风险合并高龄、超声异常组和血清学筛查高风险合并超声异常组的21三体阳性率和染色体异常率均显著高于血清学筛查高风险组;血清学筛查高风险合并高龄组的21三体阳性率和染色体异常率与血清学筛查高风险组的差异无统计学意义;血清学筛查高风险合并高龄、超声异常组的21三体阳性率显著高于血清学筛查高风险合并超声异常组.结论 唐氏综合征产前血清学筛查高风险合并其他产前诊断指征越多,患唐氏综合征的可能性越大,其中超声异常影响最大,高龄影响较小.%Objective; To investigate the influence of detecting chromosomal abnormalities in prenatal serological screening for Down's syndrome when combined with factors of advanced age and ultrasonic abnormalities. Methods: 1598 cases were chosen. All patients were done fetal karyotype analysis for high risk of prenatal serological screening for Down's syndrome. They were divided into four groups; high risk of serological screening, high risk of serological screening complicating with advanced age, high risk of serologi-cal screening complicating with ultrasonic abnormalities and high risk of serological screening complicating with advanced age and ultra-sonic abnormalities. Compare the detection of chromosomal abnormalities in the groups. Results: Positive rate of trisomy 21 and chro-mosome abnormal rate were significant

  20. Chromosomal aberrations as etiological factors of intrauterine growth retardation

    Directory of Open Access Journals (Sweden)

    Petrović Bojana

    2008-01-01

    Full Text Available Background/Aim. Intrauterine growth retardation (IUGR is a pathological condition of pregnancy characterised by birth weight below the 10th centile. A number of fetal, placental and maternal causes can lead to IUGR; although, in most cases no specific causes can be identified. The aim of this study was to determine the part of chromosomal abnormalities in IUGR etiology. Methods. Fetal blood karyotype taken by cordocentesis from 168 fetuses with diagnosed IUGR was analyzed. Results. Chromosomal rearrangements both numerical and structural were detected in 14 cases (12.2%. Two cases were triploid. Patau syndrome, Edwards syndrome and Down syndrome were found in two cases each. There was one case of trisomy 7 (47, XY, +7 and one case of trisomy 16 (47, XX, +16; one translocation, 46, XY, t (2; 14(q23; q32 and a deletion 46, XYdel (12 (p12 as well as two cases of sex chromosomes abnormalities, 45, X (Turner syndrome and 47, XYY. Conclusion. These findings suggest that a consistent number of symmetrical IUGR cases (about 12% can be associated with chromosomal rearrangements. Chromosomal aberrations that cause IUGR are heterogeneous, aberration of autosomes, mostly autosomal trisomies, being the most common.

  1. 羊膜腔穿刺用于胎儿染色体异常产前诊断的评价%Prenatal diagnosis value of amniocentesis for fetal chromosome abnormality

    Institute of Scientific and Technical Information of China (English)

    宋亦军; 刘丛丛; 刘俊涛; 边旭明

    2012-01-01

    Objective: To evaluate the prenatal diagnosis value of amniocentesis for aneuploidy. Methods: The amniocentesis was performed in 2nd trimester from Jan. 2005 to Dec. 2009 in prenatal diagnosis center of Peking Union Medical College Hospital. The data including the indication of amniocentesis, diagnosis results, procedure related miscarriage rate were retrospectively analyzed. Results: A total of 5,204 cases of amniocentesis were included in the analysis with 100% success rate. Among them, 93 cases of chromosome abnormality were found in 3,385 women in advanced maternal age (≥35 years old), and 50 cases of chromosome abnormality were found in the 1,846 women below 35 years. A total of 143 cases (2. 75%) of chromosome abnormality were diagnosed, forty-six (32. 2%) of them were trisomy 21, 18, 13, X, Y, which may cause severe malformation deformity. Among the 46 cases of severe chromosome abnormality, thirty (65. 2%) were women with advanced maternal age, while other 16 cases (34.8%) were women of age below 35 years. Seventeen cases of sex chromosome aneuploidy were diagnosed with 11 cases (64. 7%) in women with advanced maternal age and 6 cases (35. 3%) in women below 35 years. Procedure related miscarriage rate were 0. 13%. Conclusions; Amniocentesis with the assistant of instant ultrasound guidance was a reliable and relatively safe invasive prenatal diagnosis method in 2nd trimester. More accurate screening methods were needed to increase the detection rate and decrease the procedure related complication.%目的 评价孕中期羊膜腔穿刺进行胎儿非整倍体产前诊断的诊断率及安全性. 方法 回顾性总结北京协和医院产前诊断中心2005年1月至2009年12月进行的超声即时定位羊膜腔穿刺病例.对羊膜腔穿刺的指征、诊断结果、流产率等进行分析. 结果 共分析5,204例羊膜腔穿刺病例.羊膜腔穿刺成功率100%.其中高龄(≥35岁)组3,358例,发现染色体异常93例;低龄(<35岁)组1

  2. 妊娠期糖代谢异常162例母儿预后分析%Analysis on the outcomes of 162 maternal and fetal with abnormal glucose metabolism during pregnancy

    Institute of Scientific and Technical Information of China (English)

    徐亚萍

    2011-01-01

    Objective: To investigate the effect of abnormal glucose metabolism during pregnancy on maternal and fetal outcomes.Methods: 162 patients were diagnosed definitely in our hospital from June 2003 to August 2007.They were divided into Gestational Diabetes Mellitus (GDM) group (58 cases) and gestational impaired glucose tolerance (GIGT) group (104 cases).150 pregnant women of normal blood glucose were taken as normal glucose tolerance (GNGT) group, maternal and fetal outcomes were compared in three groups.Results: The incidences of postpartum hemorrhage, cesarean section, pregnancy - induced hypertension, polyhydramnios, fatal macrosomia, premature delivery, neonatal hypoglycemia were higher in GDM group than in GNGT group (P < 0.05 ).The incidences of cesarean section, polyhydramnios, fatal acrosomia were higher in the GIGT group than in GNGT group (P <0.05).Conclusion: Abnormal glucose metabolism during pregnancy can produce adverse effect on mothers and neonates.It is very important to positive treatment the pregnant women of abnormal glucose metabolism during pregnancy.%目的:探讨妊娠期糖代谢异常对母儿预后的影响.方法:2003年6月~2007年8月在大同市第一人民医院诊断为妊娠期糖代谢异常的孕妇162例,其中妊娠期糖尿病(GDM)组58例,妊娠期糖耐量减低(GIGT)组104例,另选择150例血糖值正常孕妇作为血糖正常(GNGT)组,比较3组的母儿预后.结果:GDM组孕妇产后即时出血、剖宫产、妊娠期高血压疾病、羊水过多、巨大儿、早产儿和新生儿低血糖的发生率均显著高于GNGT组(P<0.05);GIGT组剖宫产、羊水过多、巨大儿的发生率显著高于GNGT组(P<0.05).结论:妊娠期糖代谢异常对孕产妇和围生儿的预后有不良影响,应对妊娠期糖代谢异常的孕产妇进行积极干预.

  3. Ultrasound in pregnancy (image)

    Science.gov (United States)

    The ultrasound has become a standard procedure used during pregnancy. It can demonstrate fetal growth and can detect increasing ... abnormalities, hydrocephalus, anencephaly, club feet, and other ... does not produce ionizing radiation and is considered ...

  4. Prenatal Diagnosis and Pregnancy Outcome Analysis of Polyhydramnios.

    Science.gov (United States)

    Liu, Li-Ling; Pang, Li-Hong; Deng, Bi-Ye

    2016-01-01

    The aim of the study was to investigate the etiology and pregnancy outcomes in mothers with polyhydramnios through prenatal diagnosis and pregnancy outcome analysis of pregnant women with polyhydramnios. One hundred and thirty women were enrolled. Fifty pregnant women with polyhydramnios were categorized as the case group, and 80 pregnant women with normal amniotic fluid were categorized as the control group. The causes of polyhydramnios and the pregnancy outcomes were analyzed. Two cases had chromosomal abnormalities, seven had severe α-thalassemia, 15 had fetal anomalies, four had maternal-fetal diseases and 22 had unexplained idiopathic polyhydramnios. Significantly, higher occurrences of cesarean section, preterm birth, fetal anomaly, fetal distress, fetal macrosomia and female fetuses occurred in patients with polyhydramnios than in patients without polyhydramnios. Polyhydramnios is associated with a higher occurrence of adverse perinatal outcomes. Intensive monitoring of the maternal-fetal condition and prenatal diagnosis is important in patients with polyhydramnios. PMID:26720631

  5. STUDY OF ABNORMAL PREGNANCY OUTCOME AMONG TOXOPLASMA IGM-POSITIVE PREGNANT WOMEN IN WUHAN%武汉市弓形虫IgM阳性孕妇异常妊娠结局研究

    Institute of Scientific and Technical Information of China (English)

    索庆丽; 刘胜武; 姚婷

    2011-01-01

    [目的]摸清武汉市孕妇TOX感染率和TOX-IgM阳性孕妇异常妊娠状况,为预防和治疗孕妇TOX感染提供参考依据.[方法]取孕妇血清1 m1,用ELISA法检测血清中TOX-IgM和TOX-IgG,对TOX-IgM阳性孕妇和TOX-IgM阴性对照组孕妇妊娠状况和结局进行定期追踪,采用两组或多组比较x2检验进行统计分析.[结果]孕妇TOX-IgM阳性率为5.50%,早孕和中晚TOX-IgM阳性孕妇异常妊娠百分比显著高于对照组孕妇的百分比,在TOX感染引起的异常妊娠中,流产和晚期流产居首位,其次是胎死宫内,胎儿宫内发育迟缓排第3位,胎儿神经系统畸形排第4位,早产最低.[结论]TOX感染可导致异常妊娠结局的发生,医疗保健机构要加强TOX防治知识的宣教,培养育龄期妇女良好生活和饮食习惯,针对孕妇感染特点,加强孕期各阶段的监测和防治工作,减少不良妊娠结局的发生,提高出生人口素质.%[Objective] To find out the TOX infection rate among pregnant women and abnormal pregnancy status in TOX-IgM positive pregnant women in Wuhan, to provide references to prevent and treat Toxoplasma infected pregnant women. [Methods] Took pregnancy serum 1 ml, detected serum TOX-IgM and TOX-IgG with ELISA method. Track the pregnancy outcomes between TOX-IgM positive and negative pregnant respective during early, middle and late pregnancy. Statistic analysis was applied by Chi-square test. [Results] The TOX-IgM positive rate was 5.50%in pregnant women. The percentage of ab normal pregnancy among TOX—IgM positive pregnant women was significantly higher than the negative control group of pregnant women in every period of pregnancy. Abortion and late abortion constituted the highest ratio, followed by fetal death, the third was the intrauterine growth retardation.Fetal nervous system malformation ( fetal hydrocephalus, fetal microcephaly, anen cephaly and fetal brain meningocele) was the fourth .Premature ratio was relatively low

  6. Análise do rastreamento combinado no primero trimestre da gestação para detecção de anomalias cromossômicas Analysis of the combined first trimester screening for chromosomal abnormalities

    Directory of Open Access Journals (Sweden)

    Carolina Leite Drummond

    2011-06-01

    Full Text Available OBJETIVO: avaliar o desempenho do rastreamento combinado do primeiro trimestre da gestação na detecção de anomalias cromossômicas em um grupo da população brasileira. MÉTODO: estudo retrospectivo envolvendo gestantes com feto único, referidas ao setor de medicina fetal para a realização do teste de rastreamento do primeiro trimestre da gestação pela combinação da idade materna, a medida da translucência nucal e dois marcadores bioquímicos do soro materno: free B-hCG e PAPP-A. Para avaliar o desempenho do teste foram calculados a sensibilidade, especificidade, valores preditivos positivos e negativos e as taxas de falso positivo, considerando como risco elevado valores superiores a 1:300. RESULTADOS: foram incluídas 456 gestantes submetidas ao teste. A idade materna avançada, acima de 35 anos, ocorreu em 36,2% dos casos. A incidência de cromossomopatia na população estudada foi de 2,2%. Vinte e uma das gestantes (4,6% apresentou risco elevado ao teste (superior a 1:300. Usando-se este ponto de corte, a sensibilidade do teste foi de 70% para as cromossomopatias em geral e 83,3% para os casos de trissomia do cromossomo 21, com taxa de falso positivo de 3,1%. CONCLUSÃO: o rastreamento combinado do primeiro trimestre foi eficaz na detecção das anomalias cromossômicas, principalmente em relação aos casos de trissomia 21, com baixas taxas de falso positivo. Observou-se importante contribuição do teste em reduzir a indicação do exame invasivo comparado ao uso da idade materna como fator de risco.PURPOSE: to evaluate the performance of the combined first trimester screening for chromosomal abnormalities in a group of the Brazilian population. METHODS: a retrospective study including pregnant women with single fetuses referred to a fetal medicine center to perform the first trimester screening that combines maternal age, nuchal translucency measurement and two maternal serum biochemical markers: free B-hCG and PAPP-A. To

  7. 产前超声检查在诊断染色体非整倍体异常胎儿中的价值%Application of prenatal ultrasound in the diagnosis of chromosomal aneuploidy abnormalities

    Institute of Scientific and Technical Information of China (English)

    钟惟娜; 邓学东

    2012-01-01

    目的 探讨产前超声检查在非整倍体异常胎儿诊断中的价值.方法 对2009年9月至2011年12月在我院经羊水细胞染色体核型分析诊断为非整倍体异常的24例胎儿产前超声异常声像图特征进行总结分析.结果 24例羊水细胞染色体核型分析确诊为非整倍体异常的胎儿中超声显示异常20例(83.3%,20/24),包括21-三体9例(9/13)、18-三体3例(3/3)、13-三体3例(3/3)、45,X 5例(5/5).其中单发畸形4例(20%,4/20),多发畸形13例(65%,13/20),仅表现为超声软标志异常3例(15%,3/20).18-三体、13-三体及45,X胎儿均有超声可检出的明显结构畸形或异常,21-三体胎儿3例,仅表现为超声软标志异常.24例非整倍体异常胎儿中以心脏畸形检出例数居多(41.7%,10/24),而颈部淋巴水囊瘤是45,X胎儿一个极其重要的超声标志.结论 非整倍体异常胎儿常伴有异常的超声声像图表现,部分还有相应的典型超声畸形谱,超声作为非侵入性检查技术对于非整倍体异常胎儿的诊断有重要临床意义.%Objective To investigate the clinical application of prenatal ultrasound in the diagnosis of chromosomal aneuploidy abnormalities . Methods Ultrasound imaging features in 24 aneuploidy abnormal fetuses which were diagnosed by amniocentesis in our hospital from September 2009 to December 2011 were analyzed retrospectively. Results Twenty -four cases of aneuploidy abnormalities dectected by amniocentesis were examined by prenatal ultrasound. Of these cases, twenty were found abnormalities , including 9 with trisomy 21,3 with trisomy 18,3 with trisomy 13 and 5 with 45 ,X monomer. Prenatal ultrasound showed single malformation in 4 cases, multi-malformation in 13 cases and separate ultrasonographic soft markers in 3 cases. Fetuses with trisomy 18,trisomy 13 and 45,X monomer were all had obvious structural abnormalities detected by ultrasound , otherwise, 3 cases of trisomy 21 had only ultrasonographic soft markers. In

  8. The evaluation of fetal nasal bone absence at second and third trimester and its relationship with chromosomal abnormalities%中晚孕期胎儿鼻骨缺失及染色体异常的超声诊断分析

    Institute of Scientific and Technical Information of China (English)

    鲁嘉; 孟华; 姜玉新; 戴晴; 徐钟慧; 杨萌; 欧阳云淑; 张一休

    2014-01-01

    Objective To evaluate the ultrasonic characteristics of nasal bone absence at 16-34 weeks of pregnancy referring to fetal chromosomal anomalies. Methods The ultrasonic findings of the 20 fetuses with nasal bone absence at second or third trimester in Peking Union Medical College Hospital were reviewed referring to chromosomal karyotyping and labor induction or birth outcomes. Results The ultrasound features of the 20 fetuses including:(1) There were 17 fetuses showed bilateral nasal bones absence. The sonographic features were absence of hyper echo of nasal bone underneath the skin on either sagittal or transverse section. There were 5 fetuses showed multiple abnormalities:Four fetuses showed cardiac abnormalities (three showed atrioventricular septal defect, one showed ventricular septal defect, one showed ventricular septal defect with abnormal great vessels). One fetus showed duodenal obstruction′double bulbs′. The other minor abnormalities including short femur and humerus, increasing echogenetic bowels, aberrant right subclavian artery, mild unilateral ventriculomegaly, mild renal pelvic ectasia, outreached tongue, abnormal gestures of hands. (2) There were 3 fetuses showed unilateral nasal bone absence. The sonographic features were absence of hyper echo of either nasal bone on transverse section but with hyper echo on sagittal section. Two fetuses showed cardiac abnormalities (one fetus showed atrioventricular septal defect, one showed ventricular septal defect). The other minor abnormalities including short femur and humerus, hyper echogenetic bowels, increasing thickness of nuchal translucency or nuchal fold. Twelve fetuses were induced labor but only one had biopsy showed accordant result with ultrasound. (3) Karyotyping results:there were 9 of trisomy 21, 1 of 4p-and 7 of normal karyotype fetuses showed bilateral nasal bone absence. There were 2 of trisomy 21 and 1 of normal karyotype fetuses showed unilateral nasal bone absence. (4) Birth outcomes

  9. 育龄妇女妊娠期糖代谢异常及维生素D相关知识调查%Survey on abnormal glucose metabolism during pregnancy women of childbearing age and vitamin D-related knowledge

    Institute of Scientific and Technical Information of China (English)

    杨立颖; 刘韬; 李娜; 吴梅; 贾晓; 张巍

    2012-01-01

    目的 了解北京地区正常育龄妇女对于妊娠糖代谢异常及维生素D相关知识的了解情况.方法 采用问卷方式对2010年12月北京城区育龄妇女170例进行调查.结果 调查对象中妊娠糖代谢异常知晓率达90.6%,妊娠糖代谢异常对母婴的危害认知程度分别为91.2%及89.4%;糖代谢异常常见的危险因素如饮食、高龄、肥胖的认知程度也较高,认知度均大于50.0%.维生素D在妊娠期糖尿病(GDM)中的作用认知程度知晓率为29.4%;怎样预防GDM的认知程度最低,知晓率只有9.4%;不同文化程度对于维生素D在GDM中的作用认知程度没有差异;育龄妇女对于维生素D在骨钙化方面的认知度较高,达到72.4%;富含维生素D的食物认知度达到52.3%;户外活动与维生素D的关系认知度最低,只有37.0%;目前坚持食用强化维生素D食物者只有18.2%,坚持服用维生素D制剂者只有5.3%,坚持户外运动者只有21.8%.结论 北京城区育龄妇女对于妊娠糖代谢异常关注度很高,对于常见高危因素也有认知,但对维生素D在预防妊娠糖代谢异常中的作用认知程度低,对补充维生素D不够关注.应重视预防妊娠糖代谢异常相关知识的宣传与普及,提高育龄妇女围妊娠期保健意识.%Objective To understand the knowledge of abnormal glucose metabolism and vitamin D-related in pregnant women of childbearing age in Beijing area. Method To investigate 170 women of childbearing age in Beijing urban area in December 2010 by means of questionnaire method. Results The awareness of abnormal glucose metabolism for pregnancy was up to 90.6% , gestational abnormal glucose metabolism on maternal and infant risk cognition was respectively 91.2% and 89.4% ; for abnormal glucose metabolism common risk factors such as diet, age, the higher the degree of obesity, the awareness were all greater than SO. 0%. The role of vitamin D in gestational diabetes

  10. Counseling parents before prenatal diagnosis: do we need to say more about the sex chromosome aneuploidies?

    Science.gov (United States)

    Lalatta, Faustina; Tint, G Stephen

    2013-11-01

    Sex chromosome trisomies (SCT), an extra X chromosome in females (triple X, XXX), males with an extra X chromosome (Klinefelter syndrome, XXY) or an extra Y chromosome (XYY) occur because of errors during meiosis and are relatively frequent in humans. Their identification has never been the goal of prenatal diagnosis (PD) but they almost never escape detection by any of the methods commonly in use. Despite recommendations and guide-lines which emphasize the importance of structured counseling before and after PD, most women remain unaware that testing for serious genetic abnormalities is more likely to uncover these trisomies. With the increasing use of PD more and more prospective parents receive a diagnosis of sex chromosome trisomies and are faced with the dilemma of whether to terminate the pregnancy or to carry it to term. Despite the dramatic and emotionally devastating consequences of having to make such a decision, they have little opportunity to consider in advance the possible outcomes of such a pregnancy and, rather than relying on their own feelings and judgements, are forced to depend on the advice of counseling professionals who may or may not themselves be fully aware of what having an extra sex chromosome can mean to the development of a child. We address here the principles of reproductive autonomy together with an analysis of the major issues that ought to be discussed with the parents before a PD is carried out in order to minimize detrimental effects caused by this unexpected finding.

  11. Study of Preeclampsia During Pregnancy Abnormal Changes in Lipid Metabolism%子痫前期患者孕期血脂代谢变化异常的研究

    Institute of Scientific and Technical Information of China (English)

    许敏; 秦洪亮

    2014-01-01

    目的:探讨子痫前期患者孕前与孕足月血脂代谢异常情况。方法采取回顾性研究方法,针对2011年5月至2013年1月在大连市旅顺口人民医院产科门诊定期行产前检查并住院分娩的孕产妇,选取孕12周前在门诊建册并化验了血脂水平的孕妇,在孕期确诊为子痫前期的孕妇112例为实验组,孕期及孕前无心、肝、肾及内分泌疾病的健康孕妇263例为对照组,记录孕足月,分娩前的血脂水平,与孕12周前血脂水平对比,比较两组间及组内孕期血脂代谢的变化。结果实验组孕12周前 TG 即明显高于对照组,二者差异有统计学意义(P<0.01),孕足月时实验组的 TG 水平亦明显高于对照组(P <0.05),也就是说实验组的孕妇在孕期持续保持较高的 TG 水平。结论子痫前期患者存在血脂代谢调节异常,这种异常从孕早期即有体现,其中血浆三酰甘油(TG)升高与子痫前期的发病有密切关系,因此孕早期监测血脂 TG 水平,对于早期筛查出子痫前期的潜在患者,并于孕期采取适当措施早期干预,以达到预防子痫前期发病或减轻症状具有重要的临床意义。%Objective Discussion preeclampsia at term pregnancy and pregnancy lipid metabolism abnormalities. Method A retrospective study of methods for May 2011 to January 2013 in Dalian, People's Hospital of Port Arthur prenatal obstetric clinic regularly checked and hospital delivery of maternal, select pregnant 12 weeks ago in the clinic and laboratory tests on blood lipids build volumes levels of pregnant women during pregnancy diagnosed 112 cases of pregnant women with pre-eclampsia as the experimental group, pregnancy and pre-pregnancy mood, liver, kidney and endocrine diseases 263 healthy pregnant women as control group, recording full-term pregnancy, blood lipid levels before delivery, and lipid levels before 12 weeks gestation compared between the two

  12. The application value of ultrasound in screening abnormality in fetal NT in early pregnancy%NT超声检查在早孕期胎儿筛查中的应用价值

    Institute of Scientific and Technical Information of China (English)

    黄志凌; 朱惠婵; 李春苑

    2015-01-01

    Objective:to discuss the application value of ultrasound in screening abnormality in fetal nuchal translucency( NT) in ear-ly pregnancy. Methods:1 008 pregnant women (1 031 fetuses) who received the screening in early pregnancy were selected;fetal NT was examined by ultrasound ;karyotype analysis was made about the patients with NT thickening;the patients with NT thickening but normal karyotype analysis were followed up. Results:(1). Among the 1008 pregnant women, 974 successfully received NT examination, 23 of whom were diagnosed as NT abnormal thickening with thickness being(4. 3 ± 1. 3)mm, accounting for 2. 3%. (2). Thickness of normal fetal NT is(1. 7 ± 0. 8)mm, while that of abnormal fetal NT is(3. 5 ± 1. 1)mm, the difference between which being significant ( P <0. 05). (3). Among the 23 fetuses with NT thickness, 7 fetuses were abnormal in the karyotype, including 4 with trisomy 21 syndrome, 2 with trisomy 18 syndrome and 1 with trisomy 13 syndrome and among the rest 16 fetuses who were examined by ultrasound, 14 fetuses were normal, with 1 fetus with water-cystic lymphangioma and tetralogy of Fallot respectively. Conclusion:Ultrasound examination of fetal NT in early pregnancy can effectively screen out the fetuses at risk of abnormal karyotype, which is very valuable in clinical application.%目的:探讨胎儿颈项透明层厚度( nuchal translucency,NT)超声检查在早孕期胎儿筛查中的应用价值. 方法:选取接受早孕期胎儿筛查的孕妇1 008例(胎儿1 031例)作为研究对象,对胎儿NT进行超声检查,并对NT增厚的患者进行染色体核型分析. 对NT增厚但染色体核型分析正常的患者进行超声随访,观察胎儿结局. 结果:(1)1 008例孕妇中,974例孕妇成功进行了NT检查,其中NT异常增厚的胎儿共23例,颈项透明层厚度为(4. 3 ± 1. 3)mm,占2. 3 %;(2)正常胎儿的颈项透明层厚度为(1.7 ±0.8)mm,异常胎儿的颈项透明层厚度为(3.5 ±1.1)mm,高于正常胎儿( P <0

  13. Chromosome 10q tetrasomy: First reported case

    Energy Technology Data Exchange (ETDEWEB)

    Blackston, R.D.; May, K.M.; Jones, F.D. [Emory Univ., Atlanta, GA (United States)] [and others

    1994-09-01

    While there are several reports of trisomy 10q (at least 35), we are not aware of previous cases of 10q tetrasomy. We present what we believe to be the initial report of such a case. R.J. is a 6 1/2 year old white male who presented with multiple dysmorphic features, marked articulation problems, hyperactivity, and developmental delays. He is the product of a term uncomplicated pregnancy. There was a normal spontaneous vaginal delivery with a birth weight of 6 lbs. 4oz. and length was 19 1/2 inch. Dysmorphic features include small size, an asymmetrically small head, low set ears with overfolded helixes, bilateral ptosis, downslanting eyes, right eye esotropia, prominent nose, asymmetric facies, high palate, mild pectus excavatum deformity of chest, and hyperextensible elbow joints. The patient is in special needs classes for mildly mentally handicapped students. Chromosome analysis at a resolution of 800 bands revealed a complex rearrangement of chromosomes 10 and 11. The segment 10q25.3 to q16.3 appears to be inverted and duplicated within the long arm of chromosome 10 at band q25.3 and the same segment of chromosome 10 is present on the terminal end of the short arm of chromosome 11. There is no visible loss of material from chromosome 11. Fluorescence in situ hybridization was performed with a chromosome 10 specific {open_quotes}paint{close_quotes} to confirm that all of the material on the abnormal 10 and the material on the terminal short arm of 11 was from chromosome 10. Thus, it appears that the segment 10q25.3 to q26.3 is present in four copies. Parental chromosome studies are normal. We compared findings which differ in that the case of 10q tetrasomy did not have prenatal growth deficiency, microphthalmia, cleft palate, digital anomalies, heart, or renal defects. Whereas most cases of 10q trisomy are said to have severe mental deficiency, our case of 10q tetrasomy was only mildly delayed. We report this first apparent cited case of 10q tetrasomy.

  14. 早孕期系统超声切面检查在胎儿结构畸形筛查方面的应用%Application of System Ultrasonic Inspection in the Early Pregnancy in the Screening for Fetal Structural Abnormalities

    Institute of Scientific and Technical Information of China (English)

    刘宸宁; 隗伏冰; 刘彦慧; 林洋洋; 曾秀梅

    2016-01-01

    目的 探讨早孕期(孕11~13+6周)系统超声切面检查在胎儿结构畸形筛查方面的应用价值. 方法 对2014年1月—12月在东莞市妇幼保健院行超声检查的10 669名孕妇共10 883例孕11~13+6周胎儿进行系统超声切面检查,并对比中晚孕期超声及出生后体检结果. 结果 孕期超声共检出115例胎儿共154处结构畸形(包括1例胎儿单处结构畸形及1例胎儿多处结构畸形,多发畸形综合征计为1处结构畸形),产后体检发现孕期超声漏诊3例结构畸形.其中早孕期超声检出62例胎儿共85处结构畸形,早孕期超声诊断胎儿结构畸形敏感度为54.1%(85/157). 结论 早孕期系统超声切面检查可以发现相当一部分胎儿结构畸形,尤其针对重大致死性结构畸形. 早孕期系统超声检查对于提早部分胎儿畸形的诊断时间是行之有效的.%Objective To discuss the application value of system ultrasonic inspection in the early pregnancy (11~13+6 weeks of pregnancy) in the screening for fetal structural abnormalities. Methods 10 883 cases of fetuses of 11~13+6 weeks of pregnancy from 10 669 pregnant women receiving ultrasonic examination in Dongguan maternal and child care service centre from January 2014 to December 2014 were given system ultrasonic inspection, pregnancy ultrasound in the middle and late stage and physical examination results after birth were compared. Results Pregnancy ultrasound detected that there were 154 structural abnormalities in total (1 case with single structural abnormality ,1 case with multiple structural abnor-malities and multiple anomaly syndrome was for structural abnormality) , postpartum physical examination found that there were 3 cases of missed diagnosis by pregnancy ultrasound with structural abnormalities, early pregnancy ultrasound detected that there were 85 structural abnormalities from 62 cases of fetuses, the sensitivity of fetal structural abnormalities was 54.1%(85/157)by early pregnancy

  15. Preimplantation genetic screening for all 24 chromosomes by microarray comparative genomic hybridization significantly increases implantation rates and clinical pregnancy rates in patients undergoing in vitro fertilization with poor prognosis

    Science.gov (United States)

    Majumdar, Gaurav; Majumdar, Abha; Lall, Meena; Verma, Ishwar C.; Upadhyaya, Kailash C.

    2016-01-01

    CONTEXT: A majority of human embryos produced in vitro are aneuploid, especially in couples undergoing in vitro fertilization (IVF) with poor prognosis. Preimplantation genetic screening (PGS) for all 24 chromosomes has the potential to select the most euploid embryos for transfer in such cases. AIM: To study the efficacy of PGS for all 24 chromosomes by microarray comparative genomic hybridization (array CGH) in Indian couples undergoing IVF cycles with poor prognosis. SETTINGS AND DESIGN: A retrospective, case–control study was undertaken in an institution-based tertiary care IVF center to compare the clinical outcomes of twenty patients, who underwent 21 PGS cycles with poor prognosis, with 128 non-PGS patients in the control group, with the same inclusion criterion as for the PGS group. MATERIALS AND METHODS: Single cells were obtained by laser-assisted embryo biopsy from day 3 embryos and subsequently analyzed by array CGH for all 24 chromosomes. Once the array CGH results were available on the morning of day 5, only chromosomally normal embryos that had progressed to blastocyst stage were transferred. RESULTS: The implantation rate and clinical pregnancy rate (PR) per transfer were found to be significantly higher in the PGS group than in the control group (63.2% vs. 26.2%, P = 0.001 and 73.3% vs. 36.7%, P = 0.006, respectively), while the multiple PRs sharply declined from 31.9% to 9.1% in the PGS group. CONCLUSIONS: In this pilot study, we have shown that PGS by array CGH can improve the clinical outcome in patients undergoing IVF with poor prognosis. PMID:27382234

  16. Longitudinal analysis of the vaginal microflora in pregnancy suggests that L. crispatus promotes the stability of the normal vaginal microflora and that L. gasseri and/or L. iners are more conducive to the occurrence of abnormal vaginal microflora

    Directory of Open Access Journals (Sweden)

    Temmerman Marleen

    2009-06-01

    the stability of this microflora in pregnancy: L. crispatus promotes the stability of the normal vaginal microflora while L. gasseri and/or L. iners predispose to some extent to the occurrence of abnormal vaginal microflora.

  17. Birth outcomes of cases with unclassified multiple congenital abnormalities and pregnancy complications in their mothers depending on the number of component defects. Population-based case-control study.

    Science.gov (United States)

    Puhó, Erzsébet H; Czeizel, Andrew E; Acs, Nándor; Bánhidy, Ferenc

    2008-09-01

    Multiple congenital abnormalities (MCA) represent the most severe category of structural birth defects, (i.e. congenital abnormalities [CA]). Unfortunately, most MCA are not recognized and/or identified as MCA syndromes or MCA associations in the clinical practice. The term unclassified MCA (UMCA) is used for this category of MCA. We decided to evaluate the component CA of UMCA cases. The population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities (1980-1996) was evaluated. 'False' MCA, such as complex CA, polytopic field defects and sequences were excluded from the category of MCA. In addition, MCA syndromes caused by chromosomal aberrations and major mutant genes with preconceptional origin were excluded from the dataset of the Surveillance. MCA syndromes caused by teratogens and MCA associations with well-defined component CA were also excluded in the study. Thus, only UMCA cases (i) without the recognition of previously delineated MCA syndromes (ii) and/or without the identification of new MCA syndromes or (iii) caused by random combination of CA were included in the study. We compared data from 1349 cases with UMCA, 2405 matched population controls without any CA, and 21 494 malformed controls with isolated CA. There was a higher rate of stillbirth and a moderate male excess in UMCA cases, a somewhat shorter gestational age at delivery and an obvious reduction in birthweight. The intrauterine fetal growth retardation and rate of low-birthweight newborns showed an association with the number of component CA in UMCA cases. A similar association was not found with gestational age and the rate of preterm birth. UMCA represent one of the most severe categories of CA. The degree of intrauterine fetal growth retardation depends on number of component CA in UMCA cases.

  18. Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20.

    Science.gov (United States)

    Guediche, N; Brisset, S; Benichou, J-J; Guérin, N; Mabboux, P; Maurin, M-L; Bas, C; Laroudie, M; Picone, O; Goldszmidt, D; Prévot, S; Labrune, P; Tachdjian, G

    2010-02-01

    The occurrence of an additional ring chromosome 20 is a rare chromosome abnormality, and no common phenotype has been yet described. We report on two new patients presenting with a supernumerary ring chromosome 20 both prenatally diagnosed. The first presented with intrauterine growth retardation and some craniofacial dysmorphism, and the second case had a normal phenotype except for obesity. Conventional cytogenetic studies showed for each patient a small supernumerary marker chromosome (SMC). Using fluorescence in situ hybridization, these SMCs corresponded to ring chromosomes 20 including a part of short and long arms of chromosome 20. Detailed molecular cytogenetic characterization showed different breakpoints (20p11.23 and 20q11.23 for Patient 1 and 20p11.21 and 20q11.21 for Patient 2) and sizes of the two ring chromosomes 20 (13.6 Mb for case 1 and 4.8 Mb for case 2). Review of the 13 case reports of an extra r(20) ascertained postnatally (8 cases) and prenatally (5 cases) showed varying degrees of phenotypic abnormalities. We document a detailed molecular cytogenetic chromosomal breakpoints characterization of two cases of supernumerary ring chromosomes 20. These results emphasize the need to characterize precisely chromosomal breakpoints of supernumerary ring chromosomes 20 in order to establish genotype-phenotype correlation. This report may be helpful for prediction of natural history and outcome, particularly in prenatal diagnosis.

  19. Rescreening for abnormal vaginal flora in pregnancy and re-treating with clindamycin vaginal cream significantly increases cure and improvement rates

    DEFF Research Database (Denmark)

    Lamont, R F; Taylor-Robinson, D; Bassett, P

    2012-01-01

    We investigated 199 pregnant women with bacterial vaginosis (BV) who received clindamycin vaginal cream (CVC) for three days and compared with 205 women treated with placebo. The vaginal flora was assessed at each visit. At the second visit, 71% in the CVC group were cured/improved, compared...... with 12% in the placebo group (P CVC treatment were still cured/improved. Of women who initially failed to respond to CVC and were given an additional seven-day course, 33% were cured/improved by the third visit, compared with 15% who failed...... to respond to placebo initially and were given a further seven-day course (P = 0.02). By visit 4, half the women in the CVC group who received additional treatment remained cured/improved, compared with 26% who had additional placebo (P = 0.004). In the CVC group, a change from abnormal to normal rose from...

  20. 胎儿右位主动脉弓与染色体异常的相关性分析%Correlation between fetal right aortic arch and chromosome abnormality

    Institute of Scientific and Technical Information of China (English)

    刘锦平; 李亮; 王静

    2016-01-01

    目的:对系统超声检出胎儿右位主动脉弓与染色体异常的相关性进行分析。方法采集2009年1月至2014年12月在我院进行系统超声产前筛查19例右位主动脉弓胎儿,所有入选右位主动脉弓胎儿均进行羊水穿刺进行染色体核型分析,评价系统超声检测出的胎儿右位主动脉弓与染色体异常之间的相关性。结果15例右位主动脉弓超声像图表现气管和食管被气管左侧的动脉导管和气管后方的迷走左锁骨下动脉围成一“U”字形血管结构;1例胎儿有双主动脉弓超声主要表现为气管和食管被左右两侧的主动脉弓环绕成一个“O”字形包绕;3例右位主动脉弓胎儿另有左位动脉导管及头臂动脉影像分支,超声图主要表现为动脉导管在三血管-气管切面上并未有显示出来,气管的前方是动脉导管,未形成血管环;19例右位主动脉弓胎儿均进行染色体核型分析,3例伴室间隔缺损、单心房、三尖瓣闭锁、肺动脉狭窄,核型为18-三体;4例伴室间隔缺损、完全性房室通道、单心房、右室双出口、肺动脉狭窄近闭锁,核型为18-三体;3例伴单心室、单心房,核型为21-三体;1例法洛四联症和1例右位心、主动脉狭窄,伴有22q11.2。结论在产前胎儿超声筛查中要重视三血管-气管切面上的超声图像,有助于提高右位主动脉弓的检出率,胎儿右位主动脉弓与18-三体、21-三体等染色体病有明显相关性,若发现胎儿右位主动脉弓,应进行染色体核型进一步分析,排除染色体病变,从而达到优生优育的目的。%Objective To analyze the correlation between fetal right aortic arch and chromosome ab-normality by ultrasound.Methods From January Jan 2009 to Dec 2014,nineteen cases with fetal right aortic arch were enrolled.They were all determined by chromosome karyotype analysis.The correlation of fetal right aortic arch and chromosome abnormalities detected

  1. Cell‐free DNA testing in a trisomy 21 pregnancy with confined placental mosaicism for a cell line with trisomy for both chromosomes 18 and 21

    OpenAIRE

    Crooks, Kristy; Edwardsen, Ginger; O'Connor, Siobhan; Powell, Cynthia; Vargo, Diane; Vora, Neeta; Kaiser‐Rogers, Kathleen

    2015-01-01

    Key Clinical Message NIPT (noninvasive prenatal testing) detected trisomy for two chromosomes. One trisomy reflected the fetal karyotype, and the other resulted from CPM (confined placental mosaicism). This case illustrates that extensive cytogenetic analysis can be required to identify CPM, and that patients should be counseled regarding the possibility of discordant NIPT results.

  2. 孕中期异常甲胎蛋白与不良妊娠结局的相关性%The association between second - trimester maternal serum abnormal alpha - fetoprotein and adverse pregnancy outcome

    Institute of Scientific and Technical Information of China (English)

    吴满武; 俞信忠; 杨志浩; 张涛; 罗婷婷

    2012-01-01

    目的 探讨孕中期甲胎蛋白(AFP)与不良妊娠结局的相关性,为妊娠管理提供建议.方法 对孕中期14 008例孕妇进行唐氏筛查.研究组:①AFP MoM>2.0孕妇338例.②AFP MoM<0.5孕妇224例.依据AFP MoM值不同分组.对照组:AFP MoM值都在正常范围内的孕妇318例.回顾分析妊娠结局资料.结果 ①AFP MoM>2.0的孕妇发生出生缺陷(ρ<0.01)的机会明显比正常孕妇高.②AFP MoM> 3.5的孕妇发生出生缺陷(P<0.001)和早产(P<0.05)的机会明显比正常孕妇高.③AFP MoM> 5.0的孕妇发生出生缺陷(P<0.001)、早产(P<0.01)和胎儿窘迫(P<0.05)的机会明显比正常孕妇高.④AFP MoM<0.5和<0.25的孕妇均未发现与不良妊娠结局相关.结论 异常水平的标志物除了能够提供开放性神经管缺损风险外,还能提供不良妊娠结局的风险信息,而这些信息对产前遗传咨询和妊娠管理是非常重要.%Objective; Aim of this study is to determine the association between risk of adverse pregnancy outcome and abnormal maternal serum alpha - fetoprotein in second trimester screening. Abnormal levels of maternal serum markers provide information which is important for counseling and pregnancy management. Methods: A total of 14 008 pregnant women underwent maternal serum Down' s syndrome screening. Study groups include:①338 cases were found to have a serum AFP of > 2.0 multiples of the median ( MoM). ②cases serum were found to have a serum AFP 2.0 MoM have higher occurrence of birth defects (P 3. 5 MoM have higher occurrence of birth defects ( P 5.0 MoM have higher occurrence of birth defects (P < 0. 001) and preterm labor ( P < 0. 01) and fetal stress ( P < 0. 05). ④Pregnant women with a serum AFP of < 0. 5 M < 0. 25 MoM were found to have no association with adverse outcomes. Conclusion: Abnormal levels of maternal serum markers can provide risk information of adverse outcomes in addition to the risks for open neural tube defects

  3. Investigation on clinical outcomes of reproductive abnormalities with secondary constric﹣ tion increase polymorphism of chromosome long arm%染色体多态性qh+与临床生殖异常关系的探讨

    Institute of Scientific and Technical Information of China (English)

    王桂玲; 任春娥; 姜爱芳

    2015-01-01

    目的::目的:分析染色体长臂次缢痕增加( qh+)与生殖异常的临床效应关系。方法:对2080例不孕不育患者进行常规外周血染色体核型分析。结果:2080例不孕不育患者共检出染色体多态性208例,检出率为10.0%,其中qh+患者88例,占42.31%。88例qh+患者中,男性72例,女性16例。1 qh+22例;9 qh+17例;16 qh+14例;Yqh+(46,XY,大Y)29例;46,XY,Yqh+,9qh+5例;46,XY,Yqh+,16qh+患者1例。72例男性患者中存在精子质量问题者60例,占83.33%。配偶有胚胎停育史者共12例,占16.7%,其中2次以上胚胎停育史者共8例,占11.11%;配偶有畸形儿生育史者3例。16例女性患者中有胚胎停育史者7例(43.12%),其中2次以上胚胎停育史者5例(31.25%)。结论:染色体qh+与不孕不育、复发性流产、生育畸形儿等生殖异常存在明显的相关性,不能忽视其临床效应。%Objective:To investigate the association between secondary constriction polymorphisms of chromosome long arm and clinical effects of reproductive abnormalities. Methods:Karyotypes were analyzed from peripheral blood of 2080 patients suffering infertility. Results:Detection rate of chromosomal polymorphism was 10. 0% (208/2080) of patients suf—fering infertility. 88 cases of secondary constriction increase ( qh +) were checked out (42. 31%,88/208). In 88 cases of qh+,there were 22 cases of 1qh+,17 cases of 9qh+,14 ca—ses of 16 qh+,29 cases of large Y chromosome ( Yqh+) ,5 cases of Yqh+ and 9 qh+ simultane—ously and 1 case of Yqh+ and 9qh+ simultaneously. In 72 cases of male patients,60cases of dysspermia were checked out (83. 33%,60/72). There were 12 female cases of nearly embry—onic death,the spouses of 72 male patients (16. 7%,12/72),in which 8 cases of recurrent miscarriage were detected(11. 11%,8/72),and in which 3 cases have a child with a birth de—fect. In 16 cases of female patients, 7 cases of nearly embryonic death were checked out (43. 12%,7/16),in which

  4. First-trimester combined screening is effective for the detection of unbalanced chromosomal translocations at 11 to 12 weeks of gestation.

    Science.gov (United States)

    Huang, Shangyu; Chang, Chialin; Cheng, Pojen; Hsiao, Chinghua; Soong, Yungkuei; Duan, Tao

    2014-05-01

    The first trimester combined screening, which analyzes fetal nuchal translucency and levels of free β-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein A (PAPP-A) in maternal serum, is routinely used to detect abnormal pregnancies associated with Down syndrome and other trisomy aneuploidies. Based on the hypothesis that major chromosomal translocations could lead to similar biochemical and developmental outcomes during early embryo development, we compared these markers among pregnancies with normal, balanced, or unbalanced fetal karyotypes. Among the parents, 71 (73%) carry balanced reciprocal translocation and 26 (27%) have Robertsonian translocation. Of the 97 pregnancies tested, 39 (40%), 37 (37%), and 22 (23%) fetuses had normal karyotype, balanced chromosomal translocations, and unbalanced chromosomal translocations, respectively. Importantly, we found that pregnancies with an unbalanced translocation had significantly higher free β-hCG multiple of the median (MoM) and larger nuchal translucency thickness than those with normal karyotype or balanced translocations. Analysis showed that the area under a receiver operating characteristic curve (AUC) is 0.716, 0.820, and 0.936 for free β-hCG MoM, PAPP-A MoM, and fetal nuchal translucency, respectively. When these 3 independent factors were combined, the AUC reached 0.976. In addition, logistic regression showed that the most optimal model for predicting an unbalanced chromosomal translocation is a combination of PAPP-A and nuchal translucency with an AUC of 0.980. Therefore, the first trimester combined screening is not only effective in the screening of Down syndrome and other trisomy abnormalities but also has high sensitivity for the detection of unbalanced chromosomal translocations in fetuses. PMID:24177714

  5. Clinical features and Y chromosomal abnormalities in patients with karyotype chimerism of 45, XO/46, XY%染色体核型45,XO/46,XY患者的临床特点和Y染色体异常

    Institute of Scientific and Technical Information of China (English)

    茅江峰; 张红; 徐洪丽; 伍学焱; 柴晓峰; 黄炳昆; 聂敏; 王晓晶; 田丹

    2014-01-01

    目的 对染色体核型45,XO/46,XY患者的临床特点和Y染色体异常进行总结分析,以提高对此病的认识和诊疗水平.方法 对确诊患者的临床表现、性激素水平、治疗和随访、外周血淋巴细胞核型分析和Y染色体异常进行详细描述和总结.结果 (1)在2008年1月至2013年1月期间,有7例确诊为45,XO/46,XY的患者在本科就诊.社会性别男性3例,女性4例;初诊年龄(14±3)岁(11 ~ 20岁).(2)患者均为身材矮小,伴多种特纳综合征的体征.(3)完全男性外生殖器1例,尿道下裂2例,女性阴蒂增大伴阴道尿道共同开口1例,完全女性外阴3例;通过查体和超声检查,有3例患者存在睾丸,1例同时存在睾丸和卵巢样性腺,1例为卵巢样性腺,2例未发现性腺.(4)有4例患者Y染色体存在明显的异常,其中例1经多重PCR技术和多重连接探针扩增技术,证实存在AZFb和AZFc片段缺失.(5)有4例患者接受人重组生长激素(rhGH)治疗.例1行右侧隐睾牵引固定术,例4行腹腔镜探查,找到并切除性腺组织,病理可见卵巢样成分.有3例患者接受性激素替代治疗.结论 45,XO/46,XY患者,具有矮小和其他特纳综合征的体征;半数患者存在睾丸而出现不同程度男性化.Y染色体异常,可能是导致嵌合体发生和生精障碍的重要原因.应用rhGH有助于身高增加,切除隐睾和无功能性腺组织,可能降低将来的生殖细胞肿瘤风险.%Objective To increase the knowledge of clinical features and Y chromosomal abnormalities in patients with mosaic karyotype 45,XO/46,XY.Methods The clinical features,peripheral lymphocyte karyotype,sex hormones,treatment,and follow-up information were retrospectively reviewed.Results (1) 7 patients with 45,XO/46,XY were included.Their social gender was 3 male and 4 female,and the age by diagnosis was (14 ± 3) years (range 11-20 years).(2) Patients presented with short stature (n =7) and other specific somatic signs similar to Turner

  6. Correlation between missed abortion and insertional translocation involving chromosomes 1 and 7

    Directory of Open Access Journals (Sweden)

    Ahmed Husseiny

    2012-01-01

    Full Text Available Background: Missed abortion (Silent miscarriage is defined as intrauterine fetal death before twenty weeks gestation. One of the most common causes of early missed abortions (before 10 weeks gestation is cytogenetic abnormalities. Objective: To asses if there is a correlation between chromosomal aberrations (especially in chromosome 7 and missed abortion among at least two generations.Materials and Methods: After exclusion of direct causes of missed abortion, this study included 60 women (the study group who had first trimestric missed abortion and 30 healthy women who did not suffer from any diseases during their pregnancy and had apparently normal outcome (the control group. All cases were diagnosed; the blood and tissue samples were collected from the mothers and abortuses from the Department of Obstetrics and Gynecology, Maternity Hospital, Ain Shams University. Cytogenetic analyses were performed by using conventional technique and G/T banding techniques and Fluorescence In Situ Hybridization (FISH analysis with a whole chromosome 7 painting probe (WCP7 and a 7q subterminal probe (7q36, qter, prepared by chromosome micro dissection technique was used for confirming the specific chromosomal abnormality.

  7. Ultrasound pregnancy

    Science.gov (United States)

    Pregnancy sonogram; Obstetric ultrasonography; Obstetric sonogram; Ultrasound - pregnancy; IUGR - ultrasound; Intrauterine growth - ultrasound; Polyhydramnios - ultrasound; Oligohydramnios - ultrasound; ...

  8. Scar Ectopic Pregnancy.

    Science.gov (United States)

    Patel, Madhuri Arvind

    2015-12-01

    Scar ectopic pregnancy is the rarest form of ectopic pregnancy and has been increasingly diagnosed all over the world. This is a life-threatening form of abnormal implantation of embryo within the myometrium and fibrous tissues in a previous scar on the uterus, especially following caesarean section. With the increasing rate of caesarean section, there is a substantial increase in this condition with better understanding of this disease. The early and accurate diagnosis with timely management can prevent pregnancy complications such as haemorrhage, uterine rupture and can preserve fertility.

  9. Chromosome condensation and segmentation

    International Nuclear Information System (INIS)

    Some aspects of chromosome condensation in mammalians -humans especially- were studied by means of cytogenetic techniques of chromosome banding. Two further approaches were adopted: a study of normal condensation as early as prophase, and an analysis of chromosome segmentation induced by physical (temperature and γ-rays) or chemical agents (base analogues, antibiotics, ...) in order to show out the factors liable to affect condensation. Here 'segmentation' means an abnormal chromosome condensation appearing systematically and being reproducible. The study of normal condensation was made possible by the development of a technique based on cell synchronization by thymidine and giving prophasic and prometaphasic cells. Besides, the possibility of inducing R-banding segmentations on these cells by BrdU (5-bromodeoxyuridine) allowed a much finer analysis of karyotypes. Another technique was developed using 5-ACR (5-azacytidine), it allowed to induce a segmentation similar to the one obtained using BrdU and identify heterochromatic areas rich in G-C bases pairs

  10. Oral phenoxymethylpenicillin treatment during pregnancy

    DEFF Research Database (Denmark)

    Czeizel, A.E.; Rockenbauer, M.; Olsen, Jørn;

    2000-01-01

    The objective of the study was to examine the human teratogenic potential of oral penicillin V: phenoxymethylpenicillin treatment during pregnancy in the large population-based dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980–1996. The dataset included 22......, i.e. in the critical period for most major congenital abnormalities in case-matched control pairs. Thus, treatment with oral phenoxymethylpenicillin during pregnancy presents very little if any teratogenic risk to the fetus....

  11. Signs and symptoms of developmental abnormalities of the genitourinary tract

    Directory of Open Access Journals (Sweden)

    Paulo Cesar Koch Nogueira

    2016-06-01

    Full Text Available Abstract Objective: The abnormalities of the genitourinary tract development are the leading cause of chronic kidney disease (CKD in children. The diagnosis of this disease in Brazil is late and incomplete, which results in increased morbidity and mortality in this age group. Early diagnosis of this condition is the prerogative of generalist pediatricians, and the aim of this study was to review the clinical signs and symptoms associated with developmental abnormalities of the genitourinary tract. Data sources: Based on the description of a symbolic clinical case, the authors conducted a non-systematic review of medical literature. Data synthesis: The results suggest that the following data should be used as a warning for early diagnosis of affected children: (a combined urinary tract abnormalities (chromosomal abnormalities; sequence of malformations [VACTERLand Prune-Belly]; and musculoskeletal, digestive tract, heart, and nervous system malformations; (b previous history (congenital anomalies of the kidney and urinary tract [CAKUT] in the family, low birth weight, and oligoamnios; (c clinical signs (polyuria/nocturia, urinary tract infection, systemic arterial hypertension, failure to thrive, weak urinary stream, difficulty to start urination, distended bladder, non-monosymptomatic enuresis, urinary/urge incontinence, and bowel and bladder dysfunction; and (d pre- and postnatal ultrasonographic alterations (increased anteroposterior diameter of the renal pelvis, mainly in the third trimester of pregnancy; single kidney; hydronephrosis associated with other abnormalities; and hydronephrosis with parenchymal involvement in the post-neonatal assessment. Conclusion: The suggestions shown here can help the pediatrician to establish clinical hypotheses for the early diagnosis of developmental abnormalities of the genitourinary tract without resorting to expensive and invasive procedures.

  12. Acute fatty liver in pregnancy.

    NARCIS (Netherlands)

    Tan, A.; Krieken, J.H.J.M. van; Peters, W.H.M.; Steegers, E.A.P.

    2002-01-01

    When confronted with liver abnormalities during the third trimester of pregnancy, one should consider acute fatty liver of pregnancy. The differential diagnosis with (pre-)eclampsia and HELLP syndrome is sometimes difficult. In these cases a liver biopsy is helpful though rarely performed during pre

  13. Abnormal neural behaviors of neonatal rat due to hyperthermia and low dosage of cigarette exposure during pregnancy%高温与低剂量香烟联合致仔鼠的神经行为异常

    Institute of Scientific and Technical Information of China (English)

    任太芳; 邢智峰; 丰慧根; 李延兰; 杨保胜

    2005-01-01

    BACKGROUND: Neural behavior is a sensitive parameter for predicting abnormal central nervous growth that is resulted from multiple factors. Therefore this study was designed to explore the influence of hypothermia and cigarette smoke exposure during pregnancy on neural behavioral growth of neonatal rats.OBJECTIVE: To study the influence of hypothermia and cigarette smoke exposure on neural behavioral growth of neonatal rats.DESIGN: Randomized case control study based on experimental animals. SETTING: Obstetric and Gynecological Department , Third Affiliated Hospital of Xinxiang Medical College; Cytobiological Department of Xinxiang Medical College.MATERIALS: Totally 270 healthy unpregnant SD rats were obtained, including 180 males with body mass of 190- 210 g, and 90 female rats with body mass of 225-275 g. Rats were raised with granulated feed and drinking water routinely in room of 25 ℃ with natural sunlight. Male and female rats in estrus were put in the same cage overnight in proportion of 2: 1, pregnancy was confirmed if vaginal bolt was observed the following morning. Totally 160 pregnant rats were obtained and randomly divided into 16 groups that were exposed to hyperthermia, cigarette smoke or their combination and by this way, earlier reflex, learning and memory of neonatal rats were observed after natural delivery,INTERVENTIONS: From the second day of pregnancy, rats in 37 ℃, 41 ℃,42 ℃ hyperthermia combining cigarette group received subcutaneous injection of 1 mL smoke hydrotrope every other day, while rats in 25 ℃ control group and 37 ℃, 41 ℃, 42 ℃ single hyperthemia groupwere given 2.0 mL double distilled water every day for totally 7 times. From the pregnancy of 10 days, pregnant rats were put into incubator, and rats anus temperature should be kept respectively at(37 ±0.5) ℃, (41 ±0.5)℃, (42 ±0.5)℃in the 37 ℃, 41 ℃, 42 ℃ of single hyperthemia groups and the temperature should last for 2.0 minutes; nats of 37 ℃, 41

  14. Use of Tamoxifen Before and During Pregnancy

    OpenAIRE

    Braems, Geert; Denys, Hannelore; De Wever, Olivier; Cocquyt, Veronique; Van den Broecke, Rudy

    2011-01-01

    The outcomes of pregnancies in women taking tamoxifen before conception and during pregnancy are reviewed. Because of potential confounding, a causal relationship between treatment with tamoxifen and adverse pregnancy outcome cannot be established. However, the high frequency of severe congenital abnormalities indicates that reliable birth control during tamoxifen therapy is mandatory.

  15. Label Free Chromosome Translocation Detection with Silicon nanowires

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Andersen, Karsten Brandt; Frøhling, Kasper Bayer;

    HROMOSOME translocation, which is a rearrangement of arms between two chromosomes, is a major group of chromosome abnormalities leading to cancer. As a result, two derivative chromosomes with sequences coming from both chromosomes are formed. The current translocation detection method is a Fluore...

  16. Alterações cromossômicas causadas pela radiação dos monitores de vídeo de computadores Chromosome abnormalities caused by computer video display monitors' radiation

    Directory of Open Access Journals (Sweden)

    Marcos Roberto Higino Estécio

    2002-06-01

    Full Text Available OBJETIVO: Em decorrência dos questionamentos sobre o efeito deletério das radiações emitidas pelo campo eletromagnético (CEM dos tipos ELF (extremely low frequency e VLF (very low frequency transmitidas pelos monitores de vídeo dos computadores (CRT, foi avaliada a freqüência de anomalias cromossômicas estruturais e a cinética do ciclo celular em indivíduos expostos por seu trabalho à radiação dos CRT. MÉTODOS: A pesquisa de aberrações cromossômicas foi realizada em 2.000 metáfases de primeira divisão celular obtidas de culturas de 48h de linfócitos de sangue venoso periférico de dez indivíduos expostos ao CRT (grupo E e de dez controles (grupo C. A cinética do ciclo celular foi pesquisada pelos índices mitótico (IM e de proliferação celular (IPC. RESULTADOS: A análise estatística evidenciou freqüências significativamente maiores de metáfases com anomalias cromossômicas (E=5,9%; C=3,7% e anomalias/célula (E=0,066±0,026; C=0,040±0,026 nos indivíduos expostos aos CRTs. As alterações citogenéticas mais comuns foram as quebras cromatídicas, com freqüência de 0,034±0,016 no grupo E e de 0,016±0,015 no grupo C. As freqüências de IM e IPC não apresentaram diferenças significantes entre os grupos avaliados. CONCLUSÕES: Os resultados sugerem um efeito genotóxico do CEM emitido pelos CRTs devido à freqüência mais elevada de quebras cromatídicas, enfatizando a necessidade de haver um número maior de estudos com diferentes técnicas que vise a investigar a ação do CEM sobre o material genético.OBJECTIVE: Concerns were raised about the potential damaging effects of electromagnetic field (EMF radiation emissions of ELF (extremely low frequency and VLF (very low frequency computer video display monitors (VDM, it was assessed the frequency of structural chromosome abnormalities and investigated the cell cycle kinetics in individuals occupationally exposed to VDM radiation. METHODS: Chromosome

  17. Double and multiple chromosomal aneuploidies in spontaneous abortions: A single institutional experience

    Directory of Open Access Journals (Sweden)

    Shivakumar Subramaniyam

    2014-01-01

    Full Text Available Objective: To characterize double and multiple aneuploidies in spontaneous abortions (SAB. Materials and Methods: Retrospective analysis of cytogenetics data obtained by culturing/harvesting products of the conception material at our center from 2006 to 2009 was performed. The abnormal cytogenetic results, maternal age, gestational age, and previous pregnancy history were recorded and compared. Results: Double and multiple aneuploidies are rare, however, a high percentage of double (4.6% and multiple (0.4% chromosomal aneuploidies were observed in our study of 1502 cases of SAB. Of 1502 cases of SAB evaluated, 70 cases (4.6% showed double aneuploidy, whereas 6 cases (0.4% had multiple aneuploidies. The chromosomes most frequently involved in double aneuploidy in the decreasing order were 21, 16, ± X, 22, 18, 13, and 15. The most frequent chromosome combinations observed were: Loss of X/21 (8.5%, 21/22 (4.4%, 16/21 (4.4%, and 7/16 (4.4%. The chromosome combinations in multiple aneuploidy included trisomy of chromosomes X/5/8, 8/20/22, 16/20/22, 14/21/22, and loss of X with 21/21 and 7/21. These abnormalities were significantly observed in women between the age group 40-44 years (59.2%. A high success rate (94% of obtaining metaphase cells was observed in this study mainly due to the use of direct and long-term cultures. Conclusions: We observed a high percentage of double (4.6% and multiple (0.4% aneuploidies, frequently involving the acrocentic chromosomes 13, 15, 21, and 22 and nonacrocentric chromosomes X, 16, and 18.

  18. Molar Pregnancy Presents as Tubal Ectopic Pregnancy

    Directory of Open Access Journals (Sweden)

    Fatemeh Davari Tanha

    2011-01-01

    Full Text Available Hydatidiform moles are abnormal gestations characterized by the presence of hydropic changesaffecting some or all of the placental villi. Hydatidiform moles arise as a result of the fertilizationof an abnormal ovum. In this report, the patient was a 29 year old Asian woman who had inductionof ovulation with letrozol. Since the majority of molar gestations arise within the uterine cavitythus the occurrence of a hydatidiform mole within ectopic gestational tissue is rare. It is importantto differentiate a hydatidiform mole from a conventional ectopic pregnancy, particularly in infertilewomen who have a history of ovulation induction.

  19. 探索母血胎儿游离DNA无创大规模平行测序用于筛查胎儿染色体数目异常中的临床效果%Exploring clinical effect of non-invasive massive parallel sequencing of maternal fetal cell-free DNA to screen fetal chromosome abnormality

    Institute of Scientific and Technical Information of China (English)

    王雪涛; 林佳静; 王立胜

    2015-01-01

    Objective To explore clinical effect of non-invasive massive parallel sequencing of maternal fetal cell-free DNA to screen fetal chromosome abnormality.Methods choose 1000 pregnant women received in our hospital from Sep, 2014 to Sep 2015 randomly and analyze their maternal fetal cell-free DNA, and further screen fetal chromosomes numbers.Results among all pregnant women, 19 pregnant women have abnormal chromosome by non-invasive massive parallel sequencing of maternal fetal cell-free DNA, 15 of them received karyotype comparison, and coincidence rate of 21 trisome reached 100.00%, and that of 18 trisome reached 66.67%, and coincidence rate of sex chromosome abnormality reached 30.00%.Conclusion non-invasive massive parallel sequencing of maternal fetal cell-free DNA has remarkable clinical effect for screening fetal chromosome abnormality, which is worthy of being spreaded.%目的:探索母血胎儿游离DNA无创大规模平行测序用于筛查胎儿染色体数目异常中的临床效果。方法采取随机法选择本院2014年09月至2015年09月接收的1000名孕妇,对其母血胎儿游离DNA进行分析,并对其胎儿染色体数目进行进一步筛查。结果本次研究的所有入选孕妇中,母血胎儿游离DNA无创大规模平行测序发现有19名孕妇的染色体出现异常,其中有15名接受核型对比,发现21三体的符合率已经达到100.00%,18三体的符合率达到66.67%,而性染色体出现异常状况的符合率则达到30.00%。结论母血胎儿游离DNA无创大规模平行测序用于筛查胎儿染色体数目异常中的临床效果突出,可推广。

  20. Pregnancy Complications

    Science.gov (United States)

    ... 639-2888 Contact Media Pregnancy Complications Recommend on Facebook Tweet Share Compartir On this Page Before Pregnancy ... if necessary. Mental Health Conditions Some women experience depression during or after pregnancy. Symptoms of depression are: ...

  1. Effects of abnormal results of simple glucose screening test on pregnancy%单纯葡萄糖筛查试验异常对妊娠的影响

    Institute of Scientific and Technical Information of China (English)

    甘嫦勋; 蔡鹏宇; 吴淑芳; 黎美金; 吴怡萍; 钟金华

    2012-01-01

    Objective: To explore the effects of abnormal results of simple glucose screening test on pregnancy. Methods: The data of 2 473 pregnant women who gave birth to their babies in the hospital from January 2007 to June 2010 were analyzed retrospectively, 628 pregnant women with abnormal results of simple glucose screening test and normal results of oral glucose tolerance test ( OGTT) were selected as abnormal group, 1 845 pregnant women with normal results of simple glucose screening test were selected as control group. The gestation-al weeks at delivery, amniotic fluid index detected by ultrasonography before rupture of fetal membrane, birth weight, body height, and head circumference of neonates in the two groups were recorded; the incidences of polyhydramnios, premature delivery, macrosomia, fetal growth restriction, birth weight, body height, and head circumference of neonates in the two groups were compared. Results: The incidence of fetal growth restriction, birth weight, and head circumference of neonates in abnormal group were 2. 5% , (50. 8 ± 1. 4) cm, and (34. 2 ± 1. 5) cm, respectively; the incidence of fetal growth restriction, birth weight, and head circumference of neonates in normal group were 2, 9% , (50. 7 ± 1. 5) cm, and (34. 1 ± 1. 4) cm, respectively, there was no statistically significant difference between the two groups. The incidences of polyhydramnios, premature delivery, macrosomia, fetal growth restriction, and birth weight in abnormal group were 3.3%, 5.3%, 11.5% , and (3. 5 ±0.5) kg; the incidences of polyhydramnios , premature delivery, macrosomia, fetal growth restriction, and birth weight in normal group were 0. 6% , 2. 5% , 4. 7% , and (3. 2 ±0. 6) kg, there was statistically significant difference between the two groups. Conclusion: The incidences of polyhydramnios, premature delivery, macrosomia, fetal growth restriction, and birth weight of neonates in the patients with abnormal results of simple glucose screening test were

  2. International evaluation of unrecognizably uglifying human faces in late and severe secondary hyperparathyroidism in chronic kidney disease. Sagliker syndrome. A unique catastrophic entity, cytogenetic studies for chromosomal abnormalities, calcium-sensing receptor gene and GNAS1 mutations. Striking and promising missense mutations on the GNAS1 gene exons 1, 4, 10, 4.

    Science.gov (United States)

    Yildiz, Ismail; Sagliker, Yahya; Demirhan, Osman; Tunc, Erdal; Inandiklioglu, Nihal; Tasdemir, Deniz; Acharya, Vidya; Zhang, Ling; Golea, Ovidia; Sabry, Alaa; Ookalkar, Dhananjay S; Capusa, Cristina; Radulescu, Dana; Garneata, Liliana; Mircescu, Gabriel; Ben Maiz, Hedi; Chen, Cheng Hsu; Prado Rome, Jorge; Benzegoutta, Mansour; Paylar, Nuray; Eyuboglu, Kamil; Karatepe, Ersin; Esenturk, Mustafa; Yavascan, Onder; Grzegorzevska, Alicza; Shilo, Valery; Mazdeh, Mitra Mahdavi; Francesco, Ramos Carillo; Gouda, Zaghloul; Adam, Siddik Momin; Emir, Idris; Ocal, Faith; Usta, Erol; Kiralp, Necati; Sagliker, Cemal; Ozkaynak, Piril Sagliker; Sagliker, Hasan Sabit; Bassuoni, Mahmoud; Sekin, Oktay

    2012-01-01

    Hypotheses explaining pathogenesis of secondary hyperparathyroidism (SH) in late and severe CKD as a unique entity called Sagliker syndrome (SS) are still unclear. This international study contains 60 patients from Turkey, India, Malaysia, China, Romania, Egypt, Tunisia, Taiwan, Mexico, Algeria, Poland, Russia, and Iran. We examined patients and first degree relatives for cytogenetic chromosomal abnormalities, calcium sensing receptor (Ca SR) genes in exons 2 and 3 abnormalities and GNAS1 genes mutations in exons 1, 4, 5, 7, 10, 13. Our syndrome could be a new syndrome in between SH, CKD, and hereditary bone dystrophies. We could not find chromosomal abnormalities in cytogenetics and on Ca SR gene exons 2 and 3. Interestingly, we did find promising missense mutations on the GNAS1 gene exons 1, 4, 10, 4. We finally thought that those catastrophic bone diseases were severe SH and its late treatments due to monetary deficiencies and iatrogenic mistreatments not started as early as possible. This was a sine qua non humanity task. Those brand new striking GNAS1 genes missense mutations have to be considered from now on for the genesis of SS. PMID:22200434

  3. ESHRE PGD Consortium data collection XI: cycles from January to December 2008 with pregnancy follow-up to October 2009.

    Science.gov (United States)

    Goossens, V; Traeger-Synodinos, J; Coonen, E; De Rycke, M; Moutou, C; Pehlivan, T; Derks-Smeets, I A P; Harton, G

    2012-07-01

    The 11th report of the European Society of Human Reproduction and Embryology Preimplantation Genetic Diagnosis Consortium is presented, documenting cycles collected for the calendar year 2008 and follow-up of the pregnancies and babies born until October 2009 which resulted from these cycles. Since the beginning of the data collections, there has been a steady increase in the number of cycles, pregnancies and babies reported annually. For data collection XI, 53 centres have participated, reporting on 5641 cycles to oocyte retrieval (OR), along with details of the follow-up on 1418 pregnancies and 1169 babies born. A total of 774 OR were reported for chromosomal abnormalities, 96 OR for sexing for X-linked diseases, 1363 OR for monogenic diseases, 3401 OR for preimplantation genetic screening and 5 OR for social sexing. Data XI is compared with the cumulative data for data collections I-X. PMID:22572107

  4. Thyroid diseases and pregnancy

    Directory of Open Access Journals (Sweden)

    Marco Grandi

    2013-05-01

    Full Text Available BACKGROUND Thyroid diseases and diabetes mellitus are the most common endocrine diseases during pregnancy. Internal Medicine doctors could be involved in the management of pregnant women affected by thyroid diseases, in particular if an Endocrine Unit lacks in the hospital; it is mandatory that they have the skills to cope with these diseases. METHODS In this work authors describe the most common thyroid abnormalities that can occur during pregnancy: hypothyroidism (clinical and subclinical, hyperthyroidism (clinical and sub-clinical, autoimmune thyroiditis (in particular the so called post-partum thyroiditis, nodular diseases and cancer. They discuss moreover the peculiar pathophysiologic mechanisms by which these diseases appear, the diagnostic tools and the therapies, according to their own experience and the more recent international guidelines. RESULTS AND CONCLUSIONS It is important to evaluate thyroid function tests before and during pregnancy, at 16th and 28th gestational week; it is mandatory to cure also the “sub-clinical” hypothyroidism during pregnancy, when TSH level are higher than 5 μIU/mL; the optimal dose of levo-thyroxine during pregnancy is, average, 30-50% higher than that used before pregnancy; it is not correct to treat mild or sub-clinical hyperthyroidism; propylthyouracil is the best drug to treat hyperthyroidism during pregnancy; the post-partum thyroiditis is generally transient, so that a careful monitoring of thyroid function is advisable, in particular after 9-12 months of therapy; thyroid cancer, if discovered during pregnancy, generally has no negative effects on the outcome of the pregnancy; it would be better to treat surgically thyroid cancer during the last trimester of the pregnancy.

  5. Chromosomes, cancer and radiosensitivity

    International Nuclear Information System (INIS)

    Some specific chromosomal abnormalities are associated with certain cancers. The earliest description of such a specific association is the one of the Philadelphia chromosome and myelogenous leukemia (1960). Other congenital karyotype abnormalities are associated with specific cancers. Examples of these are Down's syndrome with leukemia and Klinefelter's syndrome with male breast cancer. Genetic diseases of increased chromosome breakage, or of defective chromosome repair, are associated with greatly increased cancer incidence. Three such diseases have been recognized: 1) Fanconi's anemia, associated with leukemias and lymphomas, 2) Bloom's syndrome, associated with acute leukemias and lymphosarcoma, and 3) ataxia telangiectasia, associated with Hodgkin's disease, leukemia, and lymphosarcomas. Ten percent of individuals with ataxia telangiectasia will develop one of these neoplasms. Individuals with certain of these syndromes display an unusually high radiosensitivity. Radiation therapy for cancers has been fatal in patients who received as low as 3000 rad. This remarkable radiosensitivity has been quantitated in cell cultures from such cases. Evidence suggests that the apparent sensitivity may reflect subnormal ability to repair radiation damage. The rapid proliferation of information in this field stems from the interdigitation of many disciplines and specialties, including cytogenetics, cell biology, molecular biology, epidemiology, radiobiology, and several others. This paper is intended for clinicians; it presents a structured analytic scheme for correlating and classifying this multidisciplinary information as it becomes available

  6. Chromosomes, cancer and radiosensitivity

    Energy Technology Data Exchange (ETDEWEB)

    Samouhos, E.

    1983-08-01

    Some specific chromosomal abnormalities are associated with certain cancers. The earliest description of such a specific association is the one of the Philadelphia chromosome and myelogenous leukemia (1960). Other congenital karyotype abnormalities are associated with specific cancers. Examples of these are Down's syndrome with leukemia and Klinefelter's syndrome with male breast cancer. Genetic diseases of increased chromosome breakage, or of defective chromosome repair, are associated with greatly increased cancer incidence. Three such diseases have been recognized: 1) Fanconi's anemia, associated with leukemias and lymphomas, 2) Bloom's syndrome, associated with acute leukemias and lymphosarcoma, and 3) ataxia telangiectasia, associated with Hodgkin's disease, leukemia, and lymphosarcomas. Ten percent of individuals with ataxia telangiectasia will develop one of these neoplasms. Individuals with certain of these syndromes display an unusually high radiosensitivity. Radiation therapy for cancers has been fatal in patients who received as low as 3000 rad. This remarkable radiosensitivity has been quantitated in cell cultures from such cases. Evidence suggests that the apparent sensitivity may reflect subnormal ability to repair radiation damage. The rapid proliferation of information in this field stems from the interdigitation of many disciplines and specialties, including cytogenetics, cell biology, molecular biology, epidemiology, radiobiology, and several others. This paper is intended for clinicians; it presents a structured analytic scheme for correlating and classifying this multidisciplinary information as it becomes available.

  7. Smoking and pregnancy

    Directory of Open Access Journals (Sweden)

    Panagiotis Behrakis

    2010-01-01

    Full Text Available SUMMARY. Maternal smoking during pregnancy is considered to be one of the most significant causes of complications in pregnancy and is associated with an unfavourable outcome in childbirth compared with pregnancy in non-smokers. Specifically, smoking during pregnancy increases the likelihood of placenta praevia, abruptio placentae, ectopic gestation and premature rupture of the membranes (PRM. In addition, research has established that smoking during pregnancy increases the rates of low birth weight (LBW, perinatal mortality, premature birth and sudden infant death syndrome (SIDS. As these children grow up they present a variety of health problems, including respiratory illness, behaviour disturbances, attention deficit hyperactivity disorder (ADHD and high arterial blood pressure. LBW is also associated with an increased incidence of health problems in the neonatal period. Effects have been documented of maternal smoking during pregnancy on the future fertility of male infants and the occurrence of congenital abnormalities, and a connection has been reported between daily maternal smoking in early pregnancy and infantile autism. Pneumon 2010, 23(2:153-167.

  8. Prenatal screening and diagnosis of fetal abnormal chromosome and nervous tube defect: report of 7698 cases%胎儿染色体异常和神经管缺陷的产前筛查与诊断7698例分析

    Institute of Scientific and Technical Information of China (English)

    黄瑞萍; 周红; 狄志英; 张雅英; 孙达成

    2008-01-01

    This study was to explore the value of maternal serum screen in identification of fetal abnormal chromosome and neural tube defect(NTD). By using time-distinguished fluorescence immunoassay, serum levels of free-β-HCG and alpha fetal protein(AFP)were obtained in 7698 pregnant women at 15~20 +6weeks. and 483 were found at a higher risk of fetal abnormal chromosome. Based on amniotic fluid examination or cord blood testing on 344 high. Risk participants. Fetal abnormal chromosome was found in 18 women with a positive rate of 5. 2%. Twenty-five pregnant women were NTD high-risk, and their positive rate was 0. 3%. B-mode ultrasound identified 6 fetal malformations and 2 fetal deaths ( positive rate of 32. 0%). In high-risk or low-risk group, there were 25. 6%and 7. 7%subjects developed adverse outcome, respectively(P<0. 05). Our findings suggested that maternal serum screen is an effective prediction factor for fetal abnormal chromosome and NTD.%应用时间分辨免疫荧光分析法对7698例妊娠15~20 +6周的妇女进行甲胎蛋白(AFP)和人绒毛膜促性腺激素游离β亚基(free-β-HCG)检测,筛出染色体异常高风险孕妇483例,其中344例接受羊水或脐血管穿刺产前诊断,发现胎儿染色体异常18例,异常检出率5.2%.筛出神经管缺陷高风险孕妇25例,经B超证实胎儿畸形6例,死胎2例,异常检出率32.O%.筛查高风险组和低风险组的妊娠不良结局分别为25.6%和7.7%,差异有统计学意义(P<0.05).提示孕中期母血清筛查是预测胎儿染色体异常和神经管缺陷的有效指标,筛查高风险与母婴不良妊娠结局有相关性.

  9. Relation between time to pregnancy and pregnancy outcome

    Directory of Open Access Journals (Sweden)

    Hatave Ghasemi Tehrani

    2014-01-01

    Full Text Available Background: Studies have shown significant correlation between time to pregnancy (TTP and pregnancy  outcomes. But  understanding of these mechanisms may not be facilitated. The aim of this study was to determine the relation between TTP and pregnancy outcome. Materials and Methods: This study was a case cohort study that was done in Shahid Beheshti Educational Hospital during 2006-2007. Women aged 18-35 years, who had only one pregnancy without using any contraception method before pregnancy and delivered their first child, were enrolled in this study. Thus, 801 women were selected and followed up for pregnancy outcome and TTP until the end of pregnancy. All the participants filled in a special questionnaire. Finally the collected data were entered into computer and analyzed by SPSS ver. 20 software. Results: The frequency distribution of TTP-based pregnancy outcome showed that TTP >48 weeks was higher in normal delivery than in abnormal delivery (5.6% vs. 19.4%. According to Chi-square test, the frequency distribution of pregnancy outcome was related to TTP (P < 0.001. Conclusion: According to the results of this study, there is a significant relationship between TTP and pregnancy outcome, and TTP may lead to unwanted complications such as ectopic pregnancy, preterm labor, and abortion. Thus, all women with a long time of contraception, especially in the rural areas, mast be controlled.

  10. A clinical analysis of abnormal gestational glucose metabolism and pregnancy outcome of the woman%妊娠期糖代谢异常与妊娠结局的临床分析

    Institute of Scientific and Technical Information of China (English)

    米阳; 闫坤; 黄谱; 苟文丽

    2009-01-01

    Objective To investigate relationship between abnormal gestational glucose metabolism and pregnancy outcome of the woman. Methods 1 636 pregnant women who received antenatal examination in Shannxi Provincial Maternal and Child Health Hospital in a period from January to June, 2008 were screened at their 24~28 weeks of gestation with 50g glucose challenge test (GCT). Those pregnant women with abnormal GCT results further received oral 75g glucose tolerance test (OGTT). According to OGTT results, the pregnant women were divided into 2 groups: GDM group (n=69) and gestational impaired glucose tolerance group (GIGT group, n=124). 300 pregnant women with normal glucose metabolism were as controls. All of them were followed up untill delivery and the perinatal outcomes in the 3groups were compared. Results The incidence of GDM was 4.21% and that of GIGT was 7.58%. The incidences of hypertensive disorder complicating pregnancy, polyhydramnios, premature rupture of membrane and premature delivery in GDM group were higher than those in the control group (χ2=4.660,11.530,5.193,4.661 respectively,all P<0.05).In GIGT group ,the incidences of polyhydramnios and premature rupture of membrane were significantly higher than those in the control group(χ2=12.450,6.325,respectively,both P<0.05). Conclusion The pregnant women with GDM or GIGT have significantly high incidences of obstetric complications and rate of cesarean section. So, screening of GDM should be strengthened and early diagnosis, early treatment, gestational supervision and guidance should be carried out in order to reduce incidence rates of maternal and infantile complications.%目的 探讨妊娠期糖代谢异常与妊娠结局的关系.方法 选取2008年1~6月在陕西省妇幼保健院进行产前检查的1 636名孕妇,于24~28周进行50g葡萄糖筛查试验,异常者行75g糖耐量试验,按糖代谢异常情况分为妊娠期糖尿病组(69例)和妊娠期糖耐量受损组(124例);

  11. 染色体多态性与单精子卵泡浆内注射辅助生殖妊娠结局的关系%Relationship between chromosomal phlymorphism and pregnancy outcome of assisted reproduction by intracytoplasmic sperm injection

    Institute of Scientific and Technical Information of China (English)

    聂丽娜; 刘雨生; 周桂香; 何国平; 童先宏

    2012-01-01

    目的:探讨染色体多态性与单精子卵泡浆内注射( ICSI - ET)辅助生殖的妊娠结局的关系.方法:对拟行IC-SI助孕患者进行常规外周血淋巴细胞培养,采用G显带技术,通过染色体的核型分析,比较染色体多态性组与染色体核型正常组患者的临床妊娠率、早期流产率和种植率.结果:染色体多态性组与正常组相比,胚胎种植率(29.4%vs 26.8%)、临床妊娠率(46.3% vs 50.8%)和早期流产率(10.5% vs8.2%)均无统计学差异(P>0.05).结论:染色体多态性对于ICSI - ET助孕患者的种植率、临床妊娠率、早期流产率无明显影响.%Objective: To explore the relationship between chromosomal phlymorphism and pregnancy outcome of assisted reproduction by intracytoplasmic sperm injection (ISO) . Methods; The cases planning for assisted reproduction by ISCI underwent conventional lymphocytes culture in peripheral blood, C banding technique and chromosomal karyotype analysis were used to compare the clinical pregnancy rate, early abortion rate, and implantation rate between chromosomal polymorphism group and normal chromosomal karyotype group. Results; There was no significant difference in the embryo implantation rate (29.4% versus 26.8%), clinical pregnancy rate (46.3% versus 50. 8% >, and early abortion rate (10.5% versus 8. 2% ) between the two groups (P>0.05) .Conclusion: Chromosomal polymorphism has no impact on the implantation rate, clinical pregnancy rate, and early abortion rate among the cases receiving assisted reproduction by ISCI.

  12. Chromosomal Microarrays in Prenatal Diagnosis: Time for a Change of Policy?

    Directory of Open Access Journals (Sweden)

    Peter Miny

    2013-12-01

    Full Text Available Microarrays have replaced conventional karyotyping as a first-tier test for unbalanced chromosome anomalies in postnatal cytogenetics mainly due to their unprecedented resolution facilitating the detection of submicroscopic copy number changes at a rate of 10–20% depending on indication for testing. A number of studies have addressed the performance of microarrays for chromosome analyses in high risk pregnancies due to abnormal ultrasound findings and reported an excess detection rate between 5% and 10%. In low risk pregnancies, clear pathogenic copy number changes at the submicroscopic level were encountered in 1% or less. Variants of unclear clinical significance, unsolicited findings, and copy number changes with variable phenotypic consequences are the main issues of concern in the prenatal setting posing difficult management questions. The benefit of microarray testing may be limited in pregnancies with only moderately increased risks (advanced maternal age, positive first trimester test. It is suggested to not change the current policy of microarray application in prenatal diagnosis until more data on the clinical significance of copy number changes are available.

  13. 妊娠高血压疾病胰岛素抵抗与凝血功能异常的关系研究%Study on the relationship between insulin resistance and coagulation function abnormal in pregnancy hypertension disease

    Institute of Scientific and Technical Information of China (English)

    袁晃堆

    2015-01-01

    Objective: To explore the relationship between pregnancy induced hypertension patients with insulin resistance and coagulation abnormalities.Methods:Selection in December 2011 to December 2013 in our hospital wards, 109 cases of pregnant women as the research object, the average age was (25.5 + / - 5.6). All pregnant women are mothers. And no other organs implement qualitative sex pathological change. 109 cases of pregnant women were divided into treatment group (pregnancy-induced hypertension patients), and the control group (normal pregnant women), including control group 55 cases, treatment group of 54 cases. OGTT test using electrochemical analysis module, the patient, at the same time to detect patients with insulin levels. Using the index of HOMA insulin resistance index as a patient, in patients with venous blood 0.2 ml (109 millimoles per liter) join ratio of sodium citrate for anticoagulation. Testing in patients plasma PT, APTT and Fbg indicators.Results: Compared with the normal group, hypertension group HOMA, Fbg, were significantly lower, the difference between groupP<0.05, believe that there is a statistically significant. PT and APTT values are significantly increased, the difference between groupP<0.05, believe that there is a statistically significant. Treatment group and control group of Fbg and HOMA level changes showed a negative correlation, positive correlation between APTT and PT level change.Conclusions:A bag of gestational hypertension patients Sue resistance index and its coagulation function closely related. In the root tip of the index is one of the important reasons caused by pregnancy-induced hypertension, and the mutual influences between the two, emergence and development of gestational hypertension disease has played a synergy.%目的:探究妊娠高血压病患胰岛素抵抗和凝血功能异常之间的关联性。方法:选取2011年12月~2013年12月我院住院部109例孕妇为研究对象,平均年龄为(25.5±5.6

  14. Relationship between folic acid metabolism-related enzyme gene polymorphism and susceptibility of abnormal pregnancy%叶酸代谢相关酶基因多态性与不良孕产发生易感性的关系

    Institute of Scientific and Technical Information of China (English)

    李茜西; 伍萍芝; 何琳琳; 吕德欣; 傅锦坚

    2015-01-01

    Objective To analyze the relationship between methylenetetrahydrofolate reductase (MTHFR)C677T,A1298C and methionine synthase reductase(MTRR)gene polymorphism with abnormal pregnancy history.Methods 549 normal women (control group)and 300 women with the abnormal pregnancy history(observation group)were taken as the subjects by adopting the case control research method.The oral mucosa epithelial cells were collected for extracting genomic DNA.The MTHFR and MTRR gene polymorphisms were detected by the gene sequencing method.Results The distribution frequency of MTHFR 677TT genotype in the abnormal pregnancy group was significantly increased compared with the control group (10.00% vs.3.46%,χ2 =15.25,P <0.01);the distribution frequency of MTHFR-1298CC genotype in the abnormal pregnancy group was significantly in-creased compared with the control group (11.00 vs.4.01%,χ2 =15.66,P <0.01);the distribution frequency of MTRR A66G gen-otype had no statistical difference between the two groups(χ2 =3.02,P =0.082).The interactive analysis of 2 genes indicated that simultaneous carrying the MTHFR A1298C mutation site and MTRR A66G mutation site increased the possibility of abnormal pregnancy occurrence (OR=1.52,P =0.011).Conclusion MTHFR C677T and A1298C have a certain correlation with female ab-normal pregnancy occurrence.%目的:分析妇女亚甲基四氢叶酸还原酶(MTHFR)C677T、A1298C 及甲硫氨酸合成酶还原酶(MTRR)A66G 基因多态性与不良孕产史的关联性。方法采用病例对照研究的方法,以549例正常妇女(对照组)及300例有不良孕产史(观察组)妇女为对象,采集口腔黏膜上皮细胞,提取基因组 DNA,采用基因测序技术,进行 MTHFR 及 MTRR 基因多态性检测。结果MTHFR 677TT 基因型在观察组的分布频率(10.00%)较对照组(3.46%)明显升高(χ2=15.25,P <0.01);MTHFR-1298CC基因型在观察组的分布频率(11.00%)较对照组(4

  15. Chromosome karyotype analysis of 3 901 cases and its clinical significance%3901例外周血染色体分析及临床意义

    Institute of Scientific and Technical Information of China (English)

    王翔; 李旭; 陈葳; 杨文方; 赵明刚

    2012-01-01

    To study the abnormal detection of chromosome and the relationship between abnormal karyotype of chromosome and diseases. Methods A total of 3 901 peripheral blood samples were enrolled. Karyotype was analyzed by chromosome cultivation, G-banding in all cases and C -banding or FISH in some cases if necessary. Results There were 484 cases of abnormal karyotypes with the rate of 12.41% , among which 293 cases were males and 191 cases were females. Among cases of abnormal karyotypes, 179 cases were abnormal karyotypes of euchromosome ( 4. 59% ), 168 were abnormal karyptypes of sex chromosome ( 4. 31% ) and 137 with chromosome polymorphism ( 3.51% ). Eleven cases of balanced chromosomal translocation were identified as the first reported karyotypes in the world by State Key Laboratory of Medical Genetics. A significant association between the kinds of abnormal karyotype and clinical manifestations was found ( r = 0. 013 , P = 0. 000 ). Conclusion It is important and necessary to make chromosomal analysis for patients with abnormal pregnancy history, mental retardation and disorder of sex development.%目的 研究染色体异常检出的情况及其与疾病的关系.方法 对3 901例待检者抽取外周血,采用染色体培养、G显带、C显带,必要时行荧光原位杂交技术进行核心分析.结果 3 901例受检者中共检出染色体异常核型484例,异常检出率为12.41%,异常核型中男性293例,女性191例;异常核型中常染色体异常179例,占受检者的4.59%;性染色体异常168例,占4.31%,多态性137例,占3.51%.平衡易位核型中11例为世界首报.染色体异常检出类型与临床表现有显著性相关(r=0.013,P=0.000).结论 对不良孕产史、智力低下、性分化异常的患者进行染色体核型分析具有重要的临床意义.

  16. Newborn with Supernumerary Marker Chromosome Derived from Chromosomes 11 And 22- A Case Report.

    Science.gov (United States)

    Vahidi Mehrjardi, Mohammad Yahya; Dehghan Tezerjani, Masoud; Nori-Shadkam, Mahmoud; Kalantar, Seyed Mehdi; Dehghani, Mohammadreza

    2016-03-01

    The interpretation of supernumerary chromosome is important for genetic counseling and prognosis. Here, we used SNP array and conventional karyotyping method to identify a denovo marker chromosome originated from chromosome 22 and 11 in a newborn transferred to the Neonatal Intensive Care Unit of Shahid Sadoughi Hospital in 2015. Clinical abnormalities identified in the newborn were dysmorphic face, intrauterine growth retardation, atrial septal defect (ASD), the hypoplasia of corpus callosum and septum pellucidum. These clinical abnormalities can be related to this marker, and it may help genetic counselor for predicting abnormality risk in susceptible individuals as well as prenatal diagnosis.

  17. Acute fatty liver of pregnancy

    OpenAIRE

    Ko, Hin Hin; Yoshida, Eric

    2006-01-01

    Acute fatty liver of pregnancy (AFLP) is a rare, potentially fatal complication that occurs in the third trimester or early postpartum period. Although the exact pathogenesis is unknown, this disease has been linked to an abnormality in fetal fatty acid metabolism. Early diagnosis of AFLP sometimes can be difficult because it shares features with other common conditions such as pre-eclampsia, viral hepatitis and cholestasis of pregnancy. However, a careful history and physical examination, in...

  18. Updates on Lupus and Pregnancy

    OpenAIRE

    Buyon, Jill P.

    2009-01-01

    This review focuses on events subsequent to planning a pregnancy and addresses three components of concern for women with systemic lupus erythematosus: maternal, placental, and fetal. Flare rates are generally low for patients who are clinically stable at conception. For patients who have never had renal disease, there is no firm evidence that they will develop active renal disease simply due to being pregnant. For patients who begin pregnancy with an abnormal creatinine (> 2 mg/dl is ill adv...

  19. Prenatal diagnosis of Down syndrome in dizygotic twin pregnancy.

    Science.gov (United States)

    Krawczyk, Józef; Borowski, Dariusz; Wegrzyn, Piotr; Drews, Krzysztof; Wielgoś, Mirosław

    2013-11-01

    We present a case of a 33-year-old pregnant woman who had a transvaginal ultrasound performed at week 9 of gestation. A dichorionic diamniotic twin pregnancy with symmetrically developing fetuses, was confirmed. Chromosomal defect markers (NT NB, DV TV) were analyzed in the first genetic test, performed according to the Fetal Medicine Foundation (FMF) criteria, and the double marker test was performed (PAPP-A protein and free beta-hCG concentrations in patient serum were determined). In the subsequent diagnostic procedures, the patient was offered and consented to amniopuncture after week 15 of gestation. The material obtained in the course of that invasive procedure allowed to identify a normal male karyotype - 46, XY in the first fetus (Fetus I). Cytogenetic analysis of the material from the second fetus (Fetus II) resulted in the diagnosis of an abnormal female karyotype - 47, XX, +21. Based on the analyzed clinical case, we present the difficulties of performing prenatal diagnosis in a dizygotic twin pregnancy The results prove the applicability and efficacy of prenatal diagnostics tests based on the FMF criteria also in twin pregnancies. PMID:24455857

  20. Organ-specific systemic lupus erythematosus activity during pregnancy is associated with adverse pregnancy outcomes.

    Science.gov (United States)

    Tedeschi, Sara K; Guan, Hongshu; Fine, Alexander; Costenbader, Karen H; Bermas, Bonnie

    2016-07-01

    Systemic lupus erythematosus (SLE) is a disease of reproductive-age women, and thus questions regarding how disease influences pregnancy outcomes arise. We investigated whether five specific types of SLE activity during the 6 months before conception or during pregnancy (nephritis, cytopenias, skin disease, arthritis, serositis) were associated with adverse pregnancy outcomes. We performed a retrospective cohort study of pregnancy outcomes among women with SLE at the Brigham and Women's Hospital Lupus Center. Adverse pregnancy outcomes included pre-eclampsia, pre-term delivery, elective termination due to SLE, spontaneous miscarriage at weeks 12-20, and stillbirth. SLE and obstetric history, laboratories, and medications were obtained from electronic medical records. Generalized linear mixed models adjusting for potential confounders were used to identify predictors of any adverse pregnancy outcome. Most pregnancies resulted in a live term delivery (76.5 %). After adjustment for Hispanic ethnicity, prior adverse pregnancy outcome and medication use 6 months before conception, nephritis during pregnancy (odds ratio (OR) 3.6, 95 % confidence interval (CI) 1.0-12.8), cytopenias during pregnancy (OR 3.9, 95 % CI 1.3-11.4), and serositis during pregnancy (OR 5.9, 95 % CI 1.0-34.0) were significantly associated with adverse pregnancy outcome. Specific types of SLE disease activity during pregnancy were related to adverse pregnancy outcome. Nephritis, cytopenias, and serositis carried a higher risk of adverse pregnancy outcome, suggesting that these abnormalities should be carefully monitored during pregnancy. PMID:27166627

  1. Meiotic chromosomal variation resulting from irradiation of pollen in maize

    International Nuclear Information System (INIS)

    The objective of this study was to standardize an induction strategy of chromosome aberrations in maize inbred line L-869. Pollen grains irradiated with 0, 36 and 72 Gy were used for fertilization. Resulting seeds were planted in a greenhouse to assess the number of abnormal meiotic cells. Germination, height, sterility and mortality were verified. Cells with delayed separation of chromosomes, translocation, deficiency, abnormal pairing, later condensation and anaphase bridges were observed. The number of abnormalities increased as the dosage increased but chromosome aberration types were the same regardless of the dosages used. Various chromosome-altered plants were obtained without viability loss. (author)

  2. 胎儿鼻骨缺失或发育不良与染色体核型异常的关系——187例分析%Relationship between absent or hypoplastic fetal nasal bone and chromosome abnormalities: analysis of 187 cases

    Institute of Scientific and Technical Information of China (English)

    杨昕; 韩瑾; 甄理; 潘敏; 李东至; 廖灿

    2015-01-01

    Objective To investigate the relationship between absent or hypoplastic fetal nasal bone and chromosome abnormalities.Methods From January 2010 to April 2014,187 fetuses were found to have absent or hypoplastic nasal bone by prenatal ultrasound scanning in Guangzhou Maternal and Children's Hospital.All the pregnant women should undergo interventional prenatal diagnosis for fetal chromosome abnormalities,and should be followed up for three months after the expected delivery date.The correlation between absent or hypoplastic fetal nasal bone and chromosome abnormalities,and the effects of complicating structural defects were analyzed by descriptive analysis and the Chi-square test.Results Of the 187 pregnant women,126 underwent interventional prenatal diagnostic tests,and fetal chromosome abnormalities were detected in 36 cases (28.6%),including 26 cases (20.6%) of trisomy 21,6 cases (4.8%) of trisomy 18,three cases (2.4%) of trisomy 13 and one sex chromosome chimerism.In the 126 cases received prenatal diagnosis,the incidence of chromosome abnormalities in fetuses without other structural defects was significantly lower than that with structural defects [12.7% (8/63) vs 44.4% (28/63),x2=15.556,P=0.000].Among 63 cases without other structural defects,seven fetuses were confirmed to have chromosome abnormalities in 14 women with high risk by Down syndrome screening,no chromosome abnormalities were found in 39 pregnant women with low risk by Down syndrome screening,and one sex chromosome chimerism was found in the other ten women who did not undergo Down syndrome screening.Absent or hypoplastic nasal bone detected in the first trimester resulted in a higher risk of chromosome abnormalities than that detected in the second and the third trimester [25.5% (28/110) vs 10.4% (8/77),x2=6.613,P=0.007].Conclusions When a fetus is found to have absent or hypoplastic nasal bone,it is necessary to perform Down syndrome screening and a detailed morphology scan

  3. Pathologic conditions in pregnancy

    International Nuclear Information System (INIS)

    Soma authors suggested that MR imaging could rapresent an effective diagnostic alternative in the study of pathologic conditions of mother and fetus during pregnancy. To verify the actual role of MR imaging, we examined 20 patients in the 2nd and 3rd trimester of gestation, after a preliminary US examination. Fifteen patients presented fetal or placental pathologies; in 4 patients the onset of the pathologic condition occurred during pregnancy; in 1 case of US diagnosis of fetal ascites, MR findings were nornal and the newborn was healty. As for placental pathologies, our series included a case of placental cyst, two hematomas between placenta and uterine wall, and two cases of partial placenta previa. As for fetal malformation, we evaluated a case of omphalocele, one of Prune-Belly syndrome, a case of femoral asimmetry, one of thanatophoric dwarfism, a case of thoracopagus twins with cardiovascular abnormalities, two fetal hydrocephali, and three cases of pyelo-ureteral stenosis. As for maternal pathologies during pregnancy, we observed a case of subserous uterine fibromyoma, one of of right hydronephrosis, one of protrusion of lumbar invertebral disk, and a large ovarian cyst. In our experience, MR imaging exhibited high sensitivity and a large field of view, which were both useful in the investigation of the different conditions occurring during pregnancy. In the evaluation of fetal and placental abnormalities, especially during the 3rd trimester, the diagnostic yieldof MR imaging suggested it as a complementary technique to US for the evaluation of fetal malformation and of intrauterine growth retardation

  4. Ectopic Pregnancy

    Science.gov (United States)

    ... woman is pregnant. If you have an ectopic pregnancy, the fertilized egg grows in the wrong place, ... tubes. The result is usually a miscarriage. Ectopic pregnancy can be a medical emergency if it ruptures. ...

  5. Teenage Pregnancy

    Science.gov (United States)

    ... plan to get pregnant, but many do. Teen pregnancies carry extra health risks to both the mother ... later on. They have a higher risk for pregnancy-related high blood pressure and its complications. Risks ...

  6. Fetal alcohol exposure leads to abnormal olfactory bulb development and impaired odor discrimination in adult mice

    NARCIS (Netherlands)

    K.G. Akers (Katherine); S.A. Kushner (Steven); A.T. Leslie (Ana); L. Clarke (Laura); D. van der Kooy (Derek); J.P. Lerch (Jason); P.W. Frankland (Paul)

    2011-01-01

    textabstractBackground: Children whose mothers consumed alcohol during pregnancy exhibit widespread brain abnormalities and a complex array of behavioral disturbances. Here, we used a mouse model of fetal alcohol exposure to investigate relationships between brain abnormalities and specific behavior

  7. First-trimester screening in pregnancies conceived by assisted reproductive technology: significance of gestational dating by oocyte retrieval or sonographic measurement of crown-rump length

    DEFF Research Database (Denmark)

    Gjerris, A.C.; Loft, A.; Pinborg, A.;

    2008-01-01

    OBJECTIVES: To evaluate, in pregnancies conceived by assisted reproductive technology, whether determination of gestational age (GA) by date of oocyte aspiration (DOA) or crown-rump length (CRL) at first-trimester screening influences the distribution of serum and sonographic markers or the...... performance of first-trimester screening for chromosomal abnormalities. METHODS: GA was calculated using either DOA or CRL at blood sampling and nuchal translucency thickness (NT) measurement in 729 singleton pregnancies conceived by in-vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI......). Weight-corrected log multiples of the median (MoM) marker distributions specific for IVF pregnancy were established using multiple log regression and compared for DOA- and CRL-based GA calculation. RESULTS: GA determined by CRL was significantly larger, albeit slightly, than was GA determined by DOA...

  8. Planning your pregnancy

    Science.gov (United States)

    ... Pregnancy > Before or between pregnancies > Planning your pregnancy Planning your pregnancy E-mail to a friend Please ... partner as you start your family. Why is planning your pregnancy important? Planning your pregnancy can help ...

  9. Karyotyping analysis of 396 newborns with congenital malformations and chromosomal abnormalities and the associated phenotypes%新生儿先天畸形396例染色体异常核型及其表型临床特征分析

    Institute of Scientific and Technical Information of China (English)

    王红英; 李海波; 何亚香; 杨乃超; 邵雪君; 薛永权

    2014-01-01

    目的 研究新生儿畸形的主要染色体核型及其临床表型.方法 对2006年1月至2012年5月在苏州大学附属儿童医院就诊的396例先天畸形新生儿按常规方法制备外周血淋巴细胞染色体,G显带并进行核型分析;对各型核型异常患儿的临床表型进行统计分析.结果 1.新生儿396例中检出外周血染色体异常核型159例,异常率为40.2%,其中国内外首次报道3例.2.异常核型中以21-三体(唐氏综合征)最为常见,共130例,占81.8%,其中119例为标准型,10例合并涉及D组或G组的罗伯逊易位,1例伴有性染色体异常.3.其他常见异常核型依次为del(5) (p12-14)4例、18-三体4例、45,XO 4例、inv(9) (p11q12-21)4例、X-三体1例、Rob(13;14)1例、8-三体1例、del(18) (q22)1例等.4.染色体病的临床表型有特殊面容147例(92.5%)、先天性心脏病97例(61.0%)、低出生体质量72例(45.3%)、先天性肛门闭锁13例(8.1%)、多发性畸形11例(6.8%)、肠畸形10例(6.2%)、外生殖器异常9例(5.7%)、猫叫样哭声4例(2.5%)、四肢水肿4例(2.5%)、指趾异常6例(3.6%)、先天性脑发育不良6例(3.6%)、颈蹼5例(3.1%)和唇腭裂3例(1.8%)等.结论 染色体核型异常是导致新生儿先天性疾病的重要因素;特殊面容、先天性心脏病、低出生体质量、多发性畸形是新生儿染色体病的主要临床体征.%Objective To reveal the chromosome abnormalities and their relationship with the clinical phenotype of neonates with congenital malformation.Methods Karyotype analysis of peripheral blood lymphocytes was performed on 396 newborns with congenital malformation,who were recruited at the Children's Hospital Affiliated to Soochow University from Jan.2006 to May 2012,chromosome karyotypes were prepared with neonatal peripheral lymphocytes by conventional G-banding technique.Results 1.Of 396 newborns,159 (40.2%) cases were detected to have chromosomal abnormalities

  10. Understanding Chromosome Disorders and their Implications for Special Educators

    Directory of Open Access Journals (Sweden)

    Linda Gilmore

    2014-03-01

    Full Text Available More children are now being diagnosed with chromosome abnormalities. Some chromosome disorder syndromes are relatively well known; while others are so rare that there is only limited evidence about their likely impact on learning and development. For educators, a basic level of knowledge about chromosome abnormalities is important for understanding the literature and communicating with families and professionals. This paper describes chromosomes, and the numerical and structural anomalies that can occur, usually spontaneously during early cell division. Distinctive features of various chromosome syndromes are summarised before a discussion of the rare chromosome disorders that are labelled, not with a syndrome name, but simply by a description of the chromosome number, size and shape. Because of the potential within-group variability that characterises syndromes, and the scarcity of literature about the rare chromosome disorders, expectations for learning and development of individual students need to be based on the range of possible outcomes that may be achievable.

  11. Diagnostic accuracy of the ultrasonography in complicated pregnancy

    Energy Technology Data Exchange (ETDEWEB)

    Cha, Kyung Soo; Kim, Kun Sang; Park, Soo Soung [Chungang University College of Medicine, Seoul (Korea, Republic of)

    1983-12-15

    Ultrasonography is an invaluable diagnostic method in Obstetrics. It provides safe, speedy and repeatable way to obtain image of normal and abnormal pregnancy. The ultrasonograms of 167 patients with suspicion of complicated pregnancy were analyzed. The results were as follows. 1. 86 patients showed normal ultrasonogram(50.9%). 100% in intrauterine fetal death and gross fetal anomaly, 100% in abnormal fetal position and number, 95% in pregnancy with pelvic mass, 83% in ectopic pregnancy, 81% in abortion, 78% in molar pregnancy, 74% in plancenta previa. 3. Ultrasonic diagnosis of abrupto placenta was difficult. 4. Diagnostic accuracy was 80% in bicornuate uterus and double vagina

  12. Diagnostic accuracy of the ultrasonography in complicated pregnancy

    International Nuclear Information System (INIS)

    Ultrasonography is an invaluable diagnostic method in Obstetrics. It provides safe, speedy and repeatable way to obtain image of normal and abnormal pregnancy. The ultrasonograms of 167 patients with suspicion of complicated pregnancy were analyzed. The results were as follows. 1. 86 patients showed normal ultrasonogram(50.9%). 100% in intrauterine fetal death and gross fetal anomaly, 100% in abnormal fetal position and number, 95% in pregnancy with pelvic mass, 83% in ectopic pregnancy, 81% in abortion, 78% in molar pregnancy, 74% in plancenta previa. 3. Ultrasonic diagnosis of abrupto placenta was difficult. 4. Diagnostic accuracy was 80% in bicornuate uterus and double vagina

  13. Desempenho da Ultra-sonografia Pré-natal no Diagnóstico de Cromossomopatias Fetais em Serviço Terciário Performance of Prenatal Ultrasound in the Diagnosis of Fetal Chromosomal Abnormalities in a Tertiary Center

    Directory of Open Access Journals (Sweden)

    Ricardo Barini

    2002-03-01

    Full Text Available Objetivo: determinar o desempenho da ultra-sonografia para detecção de gestações que apresentem risco de anomalia cromossômica fetal. Método: estudamos 436 pacientes submetidas a cariótipo fetal entre março de 1993 e março de 1998. Destas, 277 gestantes foram submetidas à coleta de material fetal para estudo citogenético por ultra-sonografia alterada e 159 por ansiedade parental, apresentando ultra-sonografia morfológica normal. Foram avaliadas a sensibilidade e a especificidade da ultra-sonografia utilizando o cariótipo fetal como padrão-ouro. Foi calculado o risco relativo de anomalia cromossômica apresentado segundo o sistema acometido à ultra-sonografia e os riscos de acordo com a presença de uma ou mais malformações, utilizando-se o pacote de análise estatística Epi-Info 6.0. Resultados: observamos que o risco relativo para cromossomopatia fetal foi de 89 para as malformações de face, 53 para malformações de parede abdominal e aparelho cardiovascular, 49,6 para malformações de pescoço, 44,6 para malformações de membros, 42,4 para malformações de pulmão, 32,7 para malformações de trato gastrointestinal, 27,4 para malformações de sistema nervoso central e 23,0 para malformações de trato urinário. Não foi possível o cálculo de risco para malformações de genitais, tórax, coluna e músculo-esqueléticas, por terem ocorrido em um pequeno número de casos. A presença de uma alteração ultra-sonográfica isolada se associa a risco relativo 7,82 vezes maior de cromossomopatia, ao passo que a associação de alterações morfológicas tem risco 33,8 vezes maior de cromossomopatia. Conclusões: conclui-se que a ultra-sonografia apresentou bom desempenho na detecção de gestações de risco para cromossomopatia.Purpose: to estimate the performance of ultrasound to detect gestations at risk for fetal chromosomal abnormalities. Methods: four hundred and thirty-six patients selected for the study had

  14. Chromosome analysis of arsenic affected cattle

    Directory of Open Access Journals (Sweden)

    S. Shekhar

    2014-10-01

    Full Text Available Aim: The aim was to study the chromosome analysis of arsenic affected cattle. Materials and Methods: 27 female cattle (21 arsenic affected and 6 normal were selected for cytogenetical study. The blood samples were collected, incubated, and cultured using appropriate media and specific methods. The samples were analyzed for chromosome number and morphology, relative length of the chromosome, arm ratio, and centromere index of X chromosome and chromosomal abnormalities in arsenic affected cattle to that of normal ones. Results: The diploid number of metaphase chromosomes in arsenic affected cattle as well as in normal cattle were all 2n=60, 58 being autosomes and 2 being sex chromosomes. From the centromeric position, karyotyping studies revealed that all the 29 pair of autosomes was found to be acrocentric or telocentric, and the sex chromosomes (XX were submetacentric in both normal and arsenic affected cattle. The relative length of all the autosome pairs and sex chrosomosome pair was found to be higher in normal than that of arsenic affected cattle. The mean arm ratio of X-chromosome was higher in normal than that of arsenic affected cattle, but it is reverse in case of centromere index value of X-chromosome. There was no significant difference of arm ratio and centromere index of X-chromosomes between arsenic affected and normal cattle. No chromosomal abnormalities were found in arsenic affected cattle. Conclusion: The chromosome analysis of arsenic affected cattle in West Bengal reported for the first time in this present study which may serve as a guideline for future studies in other species. These reference values will also help in comparison of cytological studies of arsenic affected cattle to that of various toxicants.

  15. 南宁地区1790例高龄孕妇妊娠中晚期胎儿染色体核型分析%Analysis of chromosomal karyotypes on 1790 advanced pregnancy women during the second and third trimesters of gestation

    Institute of Scientific and Technical Information of China (English)

    张强; 周元圆; 费冬梅; 黄红倩; 刘天盛; 张海燕

    2012-01-01

    目的 通过对高龄孕妇的羊水、脐带血进行培养及核型分析来探讨高龄孕妇所孕胎儿染色体异常情况及三体发生率与年龄的相关性,为遗传咨询和产前诊断提供理论依据.方法 通过对2010年至2011年,两年间在我院遗传门诊就诊的1790例高龄(≥35周岁)孕妇进行羊膜腔穿刺或脐带血管穿刺,抽取羊水及脐带血做细胞培养,观察培养情况,并进行核型分析.分析高龄孕妇染色体异常核型检出情况.结果 1790例高龄孕妇中共检出核型异常158例,异常检出率为8.82%.在不同年龄组,35 - 37岁,38 - 40岁,≥41岁三体发病率分别为1.06%,1.42%,2.08%.结论 高龄孕妇随年龄增长染色体异常几率增加,高龄孕妇有必要行产前诊断.%Objective: To analyze the fetal chromosomal karyotypes and trisomy incidence with age from amniotic fluid and cord blood samples obtained by cordocenteses during the second and third trimesters, and to investigate the types of chromosomal abnormalities, as well as the relationship between the abnormal karyotypes and the indications of prenatal diagnosis. Methods: Through 2010 to 2011 in our hospital to genetic clinics in 1790 cases of elderly pregnant women ( ≥35) undergoing amniocentesis or umbilical cordblood draw, through cell culture training and karyotype analysis. Analysis of the abnormal chromosome karyotype in women of advanced maternal age. Results; 158 cases of chromosome abnormalities were detected among 1790 prenatal diagnostic samples with the abnormal rate of 8. 8%. The incidences of trisomy 21 is different among the pregnant women with different ages. The ration is 1.06% in 35 -37 years old, 1.42% in the 38 -40 years old, 2.08% is over 41 years old. Conclusions; Risk of fetal chromosome abnormalities is higher in advanced pregnant women, appropriate techniques should be used to screen fetal chromosomes during different gestation weeks in advanced pregnant women.

  16. Role of anti-thrombotic therapy for recurrent pregnancy loss due to anti-phospholipid syndrome

    International Nuclear Information System (INIS)

    Background: Recurrent pregnancy loss is a major health problem effecting 1 to 2% of women of reproductive age. Its causes range from chromosomal abnormalities to endocrinological factors and thrombophilia related factors. Treating thrombophilia s especially anti phospholipid syndrome with low dose aspirin and low molecular weight heparin improves foetal outcome. This study will add local data to already existing knowledge. Method: Sixty selected patients from gynaecology OPD of Aero Hospital with clinical and/or serological findings of anti phospholipid syndrome from February 2009 to January 2011 were given aspirin 75 mg once daily and enoxaparine 40 mg subcutaneously once daily from 6 - 8 weeks to 35 and 37 weeks respectively. Results : Ninety-three percent of patients achieved live birth. Out of these 75% patients delivered at term and 18% had preterm delivered. Four (7%) had early pregnancy loss and only one had early neonatal death due to extreme prematurity. None of patients experienced any major hemorrhagic complications . Conclusion: Use of low dose aspirin and low molecular weight heparin is safe in pregnancy and improve foetal outcome in patients with recurrent pregnancy loss due to anti phospholipids syndrome. (author)

  17. Thyroid abnormality in perimenopausal women with abnormal uterine bleeding

    Directory of Open Access Journals (Sweden)

    Prasanna Byna

    2015-11-01

    Full Text Available Background: AUB is a common but complicated clinical presentation and occurs in 15-20% of women between menarche to menopause and significantly affects the women's health. Women with thyroid dysfunction often have menstrual irregularities, infertility and increased morbidity during pregnancy. The objective of present study is to find the correlation between thyroid disorders and AUB in perimenopausal women attending gynecology OPD. Methods: In the present study, fifty five patients with AUB were included and were evaluated for the cause including thyroid abnormality. Thyroid function tests were done in all patients. Results: Among 55 patients, 12 patients were diagnosed as hypothyroidism and 7 as hyperthyroidism, women with AUB 36 (65.4% were euthyroid. Among 19 women with thyroid abnormality, heavy menstrual bleeding was seen in 8 (42% women, 6 (31.57% had polymenorrhagia, 5 (26.31% had oligomenorrhoea. The frequent menstrual abnormality in women with hypothyroidism (12 women was heavy menstrual bleeding in 5 (41.6% women, 3 (25% had oligomennorhoea, 4 (33.3% had polymenorrhagia. Out of 7 women with hyperthyroidism, 2 (28.57% had oligomenorrhoea, 3 (42.8% had heavy menstrual bleeding, 2 (28.57% had polymenorrhagia. In a total of 55 patients with AUB, 11 (20% had structural abnormalities in uterus and ovaries. 5 (9% had adenomyosis, 3 (5.4% had ovarian cysts, 3 (5.4% had fibroids. Conclusions: It is important to screen all women for thyroid abnormality who are presenting with AUB especially with non-structural causes of AUB. Correction of thyroid abnormalities also relieves AUB. This will avoid unnecessary hormonal treatment and surgery. [Int J Res Med Sci 2015; 3(11.000: 3250-3253

  18. Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.

    Science.gov (United States)

    Bouchlariotou, Sofia; Tsikouras, Panagiotis; Dimitraki, Marina; Athanasiadis, Apostolos; Papoulidis, Ioannis; Maroulis, George; Liberis, Anastasios; Liberis, Vasileios

    2011-05-01

    Turner's syndrome is characterized by an ovarian failure which occurs in most cases before puberty and leads to infertility. In less than 10% of women with Turner syndrome, puberty may occur and spontaneous pregnancies is possible but with a high risk of fetal loss, chromosomal and congenital abnormalities. We present the case of a 33-year-old woman with a mosaic Turner's syndrome karyotype 45,X/47,XXX who conceived spontaneously and had two successful pregnancies. Short stature was the only manifestation of Turner's syndrome. In the present report, we reviewed the available literature on the fertility of women with Turner's syndrome and the phenotypic effects of mosaicism for a 47,XXX cell line in Turner's syndrome.

  19. Two cases of Robertsonian translocations in oligozoospermic males and their consequences for pregnancies induced by intracytoplasmic sperm injection

    NARCIS (Netherlands)

    R.F.A. Weber (Robert); F.J. Los; N.S. den Hollander (Nicolette); M. Dhont; M.H. Pieters; J.O. van Hemel; P.A. in 't Veld

    1997-01-01

    textabstractTwo case histories are presented documenting structural chromosome abnormalities in infertile males. The abnormalities were detected only after application of intracytoplasmic sperm injection (ICSI) was repeatedly unsuccessful or resulted in an abnormal preg

  20. Twin pregnancy

    DEFF Research Database (Denmark)

    Sperling, Lene; Tabor, A

    2001-01-01

    Determination of chorionicity is one of the most important issues in the management of twin pregnancy. Modern ultrasound equipment has made it possible to accurately assess placentation already in the first trimester with the lambda sign. With regard to prenatal diagnosis, it is important to know...... for clinicians caring for twin pregnancies....

  1. Sex during Pregnancy

    Science.gov (United States)

    ... Story" 5 Things to Know About Zika & Pregnancy Sex During Pregnancy KidsHealth > For Parents > Sex During Pregnancy ... satisfying and safe sexual relationship during pregnancy. Is Sex During Pregnancy Safe? Sex is considered safe during ...

  2. Compositions for chromosome-specific staining

    Science.gov (United States)

    Gray, Joe W.; Pinkel, Daniel

    1998-01-01

    Methods and compositions for staining based upon nucleic acid sequence that employ nucleic acid probes are provided. Said methods produce staining patterns that can be tailored for specific cytogenetic analyses. Said probes are appropriate for in situ hybridization and stain both interphase and metaphase chromosomal material with reliable signals. The nucleic acid probes are typically of a complexity greater than 50 kb, the complexity depending upon the cytogenetic application. Methods are provided to disable the hybridization capacity of shared, high copy repetitive sequences and/or remove such sequences to provide for useful contrast. Still further methods are provided to produce chromosome-specific staining reagents which are made specific to the targeted chromosomal material, which can be one or more whole chromosomes, one or more regions on one or more chromosomes, subsets of chromosomes and/or the entire genome. Probes and test kits are provided for use in tumor cytogenetics, in the detection of disease related loci, in analysis of structural abnormalities, such as translocations, and for biological dosimetry. Further, methods and prenatal test kits are provided to stain targeted chromosomal material of fetal cells, including fetal cells obtained from maternal blood. Still further, the invention provides for automated means to detect and analyse chromosomal abnormalities.

  3. Elevada incidência de anormalidades cromossômicas numéricas detectadas por FISH multicentromérico em pacientes com mieloma múltiplo High incidence of chromosomal numerical abnormalities by multicentromeric FISH in multiple myeloma patients

    Directory of Open Access Journals (Sweden)

    Maria de Lourdes L. F. Chauffaille

    2007-02-01

    Full Text Available Este estudo objetivou detectar as alterações genéticas em pacientes com mieloma múltiplo (MM, usando o método de hibridação in situ por fluorescência em interfases (FISH interfásico. Para detectar as alterações numéricas foram usadas sondas multicentroméricas e para os rearranjos mais freqüentemente observados na doença foram utilizadas as sondas lócus específicas para IGH, P53, ciclina D1 e RB1. Foram estudados 34 pacientes com MM em estágio avançado, ainda que recém-diagnosticados, 97% dos quais apresentaram anormalidades numéricas detectadas por FISH, sendo 75% hiperdiplóides, 18% hipodiplóides e 3% tri/tetraplóides. Em relação às demais anormalidades, a deleção 13q foi encontrada em 30% dos casos e o rearranjo IGH, em 25%. Agrupando os pacientes com hipodiploidia e com deleção 13q14 (grupo desfavorável e comparando-os com os demais (grupo não-desfavorável, houve tendência a pacientes jovens no grupo desfavorável (p = 0,06 e níveis de hemoglobina (Hb significativamente mais baixos (This study aimed to characterize genetic alterations by interphase multicentromeric FISH focusing on chromosomal numerical abnormalities and using some locus specific probes for the most frequent aberrations found in the disease, in a homogeneous cohort of 34 advanced stage, but recently diagnosed MM patients; 97% had numerical chromosomal abnormalities detected by FISH, being 75% hyperdiploid, 18% hypodiploid and 3% tri/tetraploid. Using locus specific probes, we found 13q deletion in 30% and IGH rearrangement in 25% of cases. Grouping hypodiploid patients together with del13q (unfavorable group and comparing them to the remaining cases (non unfavorable group we found a trend towards younger patients presenting more unfavorable abnormalities (p = 0.06 and significant lower hemoglobin level (Hb < 8.5 mg/dl, p = 0.03.

  4. 应用多重连接依赖探针扩增技术快速检测胎儿染色体非整倍体与结构异常%Application of multiplex ligation-dependent probe amplification for rapid detection of aneuploidies and structural chromosomal abnormalities in prenatal diagnosis

    Institute of Scientific and Technical Information of China (English)

    张菁菁; 胡平; 罗春玉; 季修庆; 周静; 刘安; 马定远; 许争峰

    2014-01-01

    目的 探讨多重连接依赖探针扩增(multiplex ligation-dependent probe amplification,MLPA)技术在羊水细胞染色体非整倍体及染色体结构异常检测中的应用.方法 应用MLPA技术对286份羊水样本进行检测,并与常规染色体核型分析进行对比,对于检测到的染色体结构异常应用微阵列比较基因组杂交技术(array comparative genomic hybridization,aCGH)进行验证.结果 在286份羊水中,共检测到10例21-三体,2例18三体,1例13三体,1例嵌合21-三体,1例X单体,1例X染色体短臂大片段缺失,1例18号染色体短臂部分三体,1例18号染色体长臂和短臂大片段缺失.所有MLPA结果与染色体核型分析均一致.对于检测到的染色体结构异常均应用aCGH技术验证,检测结果符合率100%.结论 MLPA可快速检出常见染色体非整倍体以及染色体结构异常包括大片段缺失与重复,为临床产前诊断提供有价值的信息.%Objective To explore the value of multiplex ligation-dependent probe amplification (MLPA) for rapid detection of aneuploidies and structural chromosomal abnormalities during prenatal diagnosis.Methods Two hundred and eight six amniotic fluid samples were analyzed with both MLPA and conventional karyotyping.Structural abnormalities were verified with array comparative genomic hybridization.Results Ten cases of trisomy 21,2 cases of trisomy 18,1 case of trisomy 13,1 case of mosaic trisomy 21,1 case of 45,X,1 case of large deletion of Xp,1 case of trisomy 18p and 1 case of large deletion of 18p and 18q were identified.The same results were derived by both MLPA and conventional karyotyping.Structural abnormalities were verified by array comparative genomic hybridization (aCGH)with 100% accuracy.Conclusion In addition to aneuploidies,MLPA can rapidly identify large deletions and duplications of chromosomes 21,18,13,X and Y.MLPA is supplementary to conventional karyotyping for identification of such chromosomal abnormalities

  5. Y chromosome microdeletions in Turkish infertile men

    OpenAIRE

    Zamani Ayse; Kutlu Ruhusen; Durakbasi-Dursun H; Gorkemli Huseyin; Acar Aynur

    2006-01-01

    AIMS: To detect the frequency and types of both chromosomal abnormalities and Y chromosome microdeletions in infertile men attending to our university intracytoplasmic sperm injection ICSI/IVF centre and fertile control subjects in our patient population. SETTINGS AND DESIGN: A total of 50 infertile men who were referred to IVF center of Meram medical faculty were selected for the molecular azospermia factor (AZF) screening program. MATERIALS AND METHODS: Karyotype analysis and polymeras...

  6. Chromosome Microarray.

    Science.gov (United States)

    Anderson, Sharon

    2016-01-01

    Over the last half century, knowledge about genetics, genetic testing, and its complexity has flourished. Completion of the Human Genome Project provided a foundation upon which the accuracy of genetics, genomics, and integration of bioinformatics knowledge and testing has grown exponentially. What is lagging, however, are efforts to reach and engage nurses about this rapidly changing field. The purpose of this article is to familiarize nurses with several frequently ordered genetic tests including chromosomes and fluorescence in situ hybridization followed by a comprehensive review of chromosome microarray. It shares the complexity of microarray including how testing is performed and results analyzed. A case report demonstrates how this technology is applied in clinical practice and reveals benefits and limitations of this scientific and bioinformatics genetic technology. Clinical implications for maternal-child nurses across practice levels are discussed. PMID:27276104

  7. The relevance between quantitative and type of chromosomal abnormality and leukemia transformation in myelodysplastic syndrome%骨髓增生异常综合征患者转化为急性髓系白血病与染色体异常核型的关系

    Institute of Scientific and Technical Information of China (English)

    李燕; 李雯雯; 王晓敏; 安利; 刘虹; 王增胜; 肖志坚; 秦铁军

    2013-01-01

    Objective To investigate leukemia transformation rate in myelodysplastic syndrome (MDS) and the relationship with quantitative and type of chromosomal abnormality.Methods This study retrospectively analyzed and rediagnosed 138 MDS patients with complete data,investigated the rate and time of leukemia transformation,and analyzed characteristics of chromosome karyotype of de novo patients.Results 29 (21.01%) of 138 patients transformed into leukemia,the rate and the median time of leukemia transformation were 21.01% and 8 (3-24) months,respectively,among which,the rate of leukemia transformation in normal karyotype,abnormal karyotype analysis of ≤ 5 mitotic cells,and > 5 mitotic cells in split phase groups were 6.2%,23.8% and 38.5%,respectively,and median time of which were 17(13-22),13 (5-23),and 7 (3-10) months,respectively.Increased trend of leukemia conversion rate along with increased quantity of chromosomal abnormality was observed (x2 =14.185,P < 0.01).Leukemia transformation time negatively correlated with quantity grade of abnormal karyotype (r =-0.631,P < 0.0l),The leukemia transformation rates in monosomy 7/del 7 q,trisomy 8,trisomy 11,complex karyotype and normal karyotype groups were 65.0%,50.0%,30.8% and 28.6%,being significantly different (x2 =21.555,P <0.01).Leukemia transformation rate of complex karyotype and monosomy 7/del 7 q was slightly higher than of trisomy 8 and trisomy 11,but both of them were significantly higher than of normal karyotype (x2 =8.054,P =0.005).There were no leukemia transformation cases in del 5q,del 20q,monosomy Y,and trisomy 21group.Conclusion With or without abnormal chromosome karyotype,quantity and types of abnormal karyotype had important clinical value to predict leukemia transformation in patients with MDS.%目的 探讨骨髓增生异常综合征(MDS)患者向急性髓系白血病(AML)的转化率与染色体异常核型数量及类型的关系.方法 对138例资料完整的MDS患

  8. Clinical management of pregnancy in cats.

    Science.gov (United States)

    Root Kustritz, Margaret V

    2006-07-01

    Average gestation length in domestic cats is 65.6 days, with a range of 52-74 days. Average reported litter size is 4.0 kittens per litter; litter size is not correlated with number of matings in a given estrus. Superfecundation is common in domestic cats; superfetation never has been definitively proven to occur. Eclampsia may occur during pregnancy in queens, with non-specific clinical signs. Ectopic pregnancy and uterine torsion have been reported. Pregnancy loss may be due to infectious causes, including bacteria, viruses or protozoa, or non-infectious causes, such as hypoluteoidism and chromosome errors. PMID:16620942

  9. 胎儿脐血染色体产前诊断临床分析336例%Clinical Analysis of 336 Cases of Prenatal Diagnosis of Fetal Chromosomal Karyotypes of Cording Blood

    Institute of Scientific and Technical Information of China (English)

    何德钦; 徐两蒲; 李英; 林娜; 刘合焜; 林元

    2011-01-01

    目的 探讨妊娠中晚期产前诊断的指征、染色体异常的常见类型及脐血管穿刺术在产前诊断中的应用.方法 收集有产前诊断指征的妊娠中晚期孕妇336例,抽取脐血,检查胎儿染色体核型,分析异常核型类别及其与产前诊断指征的关系.结果 发现异常核型48例(14.3%),其中染色体三体30例(62.5%),包括21三体8例,18三体12例,13三体8例,22三体2例.多发性畸形组染色体三体检出率26.7%(24/90).结论 胎儿发育异常为妊娠中晚期脐血产前诊断的主要指征;染色体三体是该时期的主要异常核型;脐血管穿刺术是妊娠中晚期胎儿染色体产前诊断的主要方法.%Objective To investigate the indications of prenatal diagnosis, common types of the abnormal karyotypes during the second and third trimesters, and to assess the effectiveness of cordocente-sis in the prenatal diagnosis. Methods Cordocentesis -were performed on 336 pregnant women -with different indications of prenatal diagnosis during their 18 to 36 gestational weeks. Fetal chromosomal karyotypes were also examined, and analysed relations between abnormal karyotype and the indications of prenatal diagnosis. Results 48 chromosomal abnormalities (14. 3%) -were detected. Trisomy, the main abnormality, accounted for 62. 5% (30/48) of all abnormalities; there -were 12 -with trisomy 18,8 -with trisomy 21 , 8 with trisomy 13, and 2 with trisomy 22. The highest trisomy chromosomal aberration rate (26. 7%) was detected in the fetuses with multiple abnormalities and minor fetus anatomical abnormalities significantly increase the detectable rate of trisomy 21. Conclusion Fetal abnormalities -were the main indications for prenatal diagnosis. Trisomy is the main type of chromosomal karyotype malformation during the second and third trimesters of pregnancy, and cordocentesis is an important technique for prenatal diagnosis during this period. Ultrasonographic prenatal screening offers access to find

  10. A population-based case-control teratologic study of ampicillin treatment during pregnancy

    DEFF Research Database (Denmark)

    Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft;

    2001-01-01

    Objective: This was a study of the association between ampicillin treatment during pregnancy and prevalence of different congenital abnormalities. Study Design: The paired analysis of case patients with congenital abnormalities and matched population control subjects was performed in the populati...

  11. Pregnancy Loss

    Science.gov (United States)

    ... Pregnancy that ends before 20 weeks is called miscarriage. Miscarriage usually happens because of genetic problems in the ... uterus or cervix might play a role in miscarriage. Health problems, such as polycystic ovary syndrome , might ...

  12. Multiple Pregnancy

    Science.gov (United States)

    ... Can multiple pregnancy affect my risk of postpartum depression? Having multiples might increase your risk of postpartum ... Membership For Journalists For Junior Fellows For Medical Students For Patients Contact Us Copyright Information Privacy Statement ...

  13. The Effect of Individual Nutritional Therapy on Pregnancy Outcomes among Pregnant with Abnormal Glucose Challenge Test%个体化营养膳食治疗对葡萄糖筛查异常孕妇妊娠结局的影响

    Institute of Scientific and Technical Information of China (English)

    李伟容; 翟锦娣; 罗艳

    2013-01-01

    Objective To examine the effect of individual nutritional therapy on pregnancy outcomes among patients with abnormal glucose test. Methods A total of 100 patients with positive 50 g GCT and negative 75 g OGTT between 24 and 28 weeks’ gestation were divided into group 1 and group 2 according to prospective randomized controlled study. 50 patients in group 1 were given a individual nutritional diet and group 2 with 50 patients only were given a routine diet. Pregnancy outcomes were compared. Results After management intervention, there were signiifcant differences in birth weight, number of large for gestational age babies, total maternal weight gain during pregnancy(P0.05).Conclusions In the management of patients with positive 50 g GCT and negative 75g OGTT, the proper individual nutritional therapy has better pregnancy outcomes.%目的:探讨个体化营养膳食治疗对糖筛查异常孕妇妊娠结局的作用和意义。方法采用前瞻性随机对照研究,将孕24~28周、50g糖筛查异常而75g口服糖耐量试验正常的100例孕妇分为1、2两组各50例,1组除孕期常规营养宣教外,制定个体化营养膳食计划实施管理干预;2组只进行孕期常规营养宣教。比较两组的妊娠结局。结果实施管理干预后,1组平均出生体质量、大于胎龄儿发生率、平均体质量增加量明显低于2组,差异有统计学意义(P<0.05);而两组剖宫产率、早产率比较无统计学意义(P>0.05)。结论在对糖筛查异常而糖耐量正常的孕妇管理干预过程中,合理的个体化营养膳食治疗对改善其妊娠结局有较好的临床效果。

  14. Banding studies of chromosomes in a patient with mycosis fungoides

    Energy Technology Data Exchange (ETDEWEB)

    Fukuhara, S.; Rowley, J.D.; Variakojis, D.

    1978-11-01

    Chromosomes from a patient with mycosis fungoides were examined in detail with banding techniques. Hyperdiploid cells from a lymph node had common anomalies of certain chromosomes which formed three similar clones. The abnormalities involved chromosomes Nos. 1, 2, 5, 8, 9, 10, 14, and 18, in addition to an unknown small metacentric marker (M3). Although there were a number of mitotic cells in peripheral blood cultured both with and without PHA, none of the few cells with abnormal karyotypes was similar to the clonal cells of the lymph node. One of the abnormalities in the lymph node was a 14q rearrangement, which could be the result of a translocation of Nos. 8 and 14 involving a third chromosome, No. 2. An abnormality in the blood resulted from a translocation between the long arms of Nos. 1 and 14. These findings could be useful for studies in which mycosis fungoides is compared with the Sezary syndrome and other lymphoid malignancies.

  15. Radiation-induced chromosomal instability

    Energy Technology Data Exchange (ETDEWEB)

    Ritter, S. [GSI, Biophysics, Darmstadt (Germany)

    1999-03-01

    Recent studies on radiation-induced chromosomal instability in the progeny of exposed mammalian cells were briefly described as well as other related studies. For the analysis of chromosomal damage in clones, cells were seeded directly after exposure in cell well-dish to form single cell clones and post-irradiation chromosome aberrations were scored. Both exposure to isoeffective doses of X-ray or 270 MeV/u C-ions (13 keV/{mu}m) increased the number of clones with abnormal karyotype and the increase was similar for X-ray and for C-ions. Meanwhile, in the progeny of cells for mass cultures, there was no indication of a delayed expression of chromosomal damage up to 40 population doublings after the exposure. A high number of aberrant cells were only observed directly after exposure to 10.7 MeV/u O-ions, i.e. in the first cycle cells and decreased with subsequent cell divisions. The reason for these differences in the radiation-induced chromosomal instability between clonal isolates and mass culture has not been clarified. Recent studies indicated that genomic instability occurs at a high frequency in the progeny of cells irradiated with both sparsely and densely ionizing radiation. Such genomic instability is thought likely to increase the risk of carcinogenesis, but more data are required for a well understanding of the health risks resulting from radiation-induced delayed instability. (M.N.)

  16. Exceptional Complex Chromosomal Rearrangements in Three Generations

    Directory of Open Access Journals (Sweden)

    Hannie Kartapradja

    2015-01-01

    Full Text Available We report an exceptional complex chromosomal rearrangement (CCR found in three individuals in a family that involves 4 chromosomes with 5 breakpoints. The CCR was ascertained in a phenotypically abnormal newborn with additional chromosomal material on the short arm of chromosome 4. Maternal karyotyping indicated that the mother carried an apparently balanced CCR involving chromosomes 4, 6, 11, and 18. Maternal transmission of the derivative chromosome 4 resulted in partial trisomy for chromosomes 6q and 18q and a partial monosomy of chromosome 4p in the proband. Further family studies found that the maternal grandmother carried the same apparently balanced CCR as the proband’s mother, which was confirmed using the whole chromosome painting (WCP FISH. High resolution whole genome microarray analysis of DNA from the proband’s mother found no evidence for copy number imbalance in the vicinity of the CCR translocation breakpoints, or elsewhere in the genome, providing evidence that the mother’s and grandmother’s CCRs were balanced at a molecular level. This structural rearrangement can be categorized as an exceptional CCR due to its complexity and is a rare example of an exceptional CCR being transmitted in balanced and/or unbalanced form across three generations.

  17. Denied pregnancy.

    Science.gov (United States)

    Habek, Dubravko

    2010-06-01

    Two cases of non-psychotic denied pregnancy are presented and discussed. Following obstetric expertise, the forensic-criminal evaluation should investigate the reported crimes of denied pregnancy associated infanticide or criminal abortion as well as the potential involvement of other persons in these crimes. All this would require close collaboration between obstetricians, psychiatrists and crime investigation experts in the forensic expertise of these criminal offences.

  18. chromosome karyotype analysis of pregnant amniotic fluid in Qingdao area 1206 cases%青岛地区1206例孕妇羊水染色体核型分析

    Institute of Scientific and Technical Information of China (English)

    姜楠; 俞冬熠; 韩美艳

    2012-01-01

    Objective: Evaluation of amniotic fluid cells karyotype analysis on second trimester of pregnant women at risk for prenatal diagnosis. Method: From 19 to 23 weeks of pregnancy in pregnant women at risk of amniocentesis and cell culture karyotype analysis. Result: Amniotic fluid cell culture success rate of 99. 9% , detection of chromosome abnormalities in 47 cases, including 23 cases of trisomy 21, 18 — trisomy 2 cases, 5 cases with sex chromosome abnormalities, trisomy 22 in 1 cases and other structural chromosomal abnormality in 16 cases. Conclusion; Pregnant amniotic fluid cell karyotype, can be safe and effective for fetal chromosome abnormalities for prenatal diagnosis, chromosome disease patients to reduce the birth has an important guiding significance.%目的 评价羊水细胞的染色体核型分析对妊娠中期的高危孕妇进行产前诊断的意义.方法 对妊娠19~ 23周的高危孕妇进行羊膜腔穿刺术并进行细胞培养染色体核型分析.结果 羊水细胞培养成功率99.9%,检出染色体异常47例,包括21-三体23例,18-三体2例,性染色体异常5例,22-三体1例以及其他染色体结构异常16例.结论 孕妇羊水细胞染色体核型检查,能安全有效的对胎儿染色体异常进行产前诊断,对于减少具有染色体病患儿的出生具有重要的指导意义.

  19. 1ST-TRIMESTER MATERNAL SERUM HUMAN CHORIONIC-GONADOTROPIN AS A MARKER FOR FETAL CHROMOSOMAL DISORDERS

    NARCIS (Netherlands)

    VANLITH, JMM

    1992-01-01

    The Dutch Working Party on Prenatal Diagnosis has initiated a study on the possibilities of first-trimester screening for fetal chromosomal disorders. We report on maternal serum human chorionic gonadotrophin (MS-hCG) measurements in 1348 pregnancies with a chromosomally normal fetus and 53 pregnanc

  20. Pesticides, Chromosomal Aberrations, and Non-Hodgkin’s Lymphoma

    OpenAIRE

    Chiu, Brian C. -H.; Blair, Aaron

    2009-01-01

    An excessive incidence of non-Hodgkin’s lymphoma (NHL) has been reported among farmers and other occupational groups working with pesticides. Some pesticides exhibit immunotoxic and genotoxic activities. Individuals exposed to pesticides have also been found to have an increased prevalence of chromosomal abnormalities including the t(14;18)(q32;q21), one of the most common chromosomal abnormalities in NHL. Two recent epidemiologic studies reported that the association between pesticide exposu...

  1. Clinical study of ectopic pregnancy.

    Science.gov (United States)

    Chhabra, S; Aher, K; Jaiswal, M

    1992-01-01

    Ectopic pregnancy remains a leading cause of maternal mortality and accounts for a sizeable proportion of infertility and ectopic recurrence. The possibility that a woman is experiencing an ectopic pregnancy must be considered when evaluating a woman, especially a sterilized woman, who has a possible pregnancy, amenorrhea, abdominal pain, or abnormal bleeding; studies have found that one in six pregnancies occurring after tubal sterilization are ectopic. The authors present a clinical study of 82 cases of ectopic pregnancy admitted to the department of Obstetrics and Gynecology of Mahatma Gandhi Institute of Medical Sciences, Sevagram. Cases of ectopic pregnancy represent 0.99% of total obstetric admissions, of whom 69.51% were diagnosed as such on admission. 40.24% of the women were older than 30 years, while 34.14% were elderly beyond third parity. 70.73% of the women presented before missing their second period. Patients presented with multiple complaints, but the most common was abdominal pain reported by 61.70%. 78.04% were admitted with an acute abdomen, but shock was present in only 7.14% of cases. The main surgical treatment modality was salpingectomy among 59.75%. There was no maternal mortality through postoperative morbidity in the form of paralytic ileus, although fever did occur in some women.

  2. Case control study of the factor V Leiden and factor II G20210A mutation frequency in women with recurrent pregnancy loss

    Science.gov (United States)

    Teremmahi Ardestani, Majid; Nodushan, Hossein Hadi; Aflatoonian, Abbas; Ghasemi, Nasrin; Sheikhha, Mohammad Hasan

    2013-01-01

    Background: Recurrent pregnancy loss (RPL) caused by various genetic and non-genetic factors. After chromosome abnormality, thrombophilia is one of the most important genetic factors that could cause RPL. Factor V Leiden and factor II G20210A mutation were the most common mutations cause thrombophilia in the world. Objective: The purpose of this study was to determine the frequency of factor V Leiden and prothrombine gene mutations in women with RPL compared with women who had uneventful pregnancies. Materials and Methods: This case control study evaluates the frequency of factor V-Leiden and factor II G20210 genotypes in 80 women with two or more pregnancy losses, compared with 80 women without adverse pregnancy outcome. The mutations were assessed by PCR-RFLP. Results: Frequency of the factor V Leiden among cases was 2.5%, which was higher than controls (1.25%), but the difference was not significant. No factor II G20210 mutation was found among cases and controls. Conclusion: These data did not confirm that factor V Leiden and factor II G20210 mutation might play a role in recurrent pregnancy loss in Iranian women. PMID:24639694

  3. Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies.

    Science.gov (United States)

    Rush, Eric T; Schaefer, G Bradley; Sanger, Warren G; Coccia, Peter F

    2015-01-01

    Sex chromosome aneuploidies range in incidence from rather common to exceedingly rare and have a variable phenotype. We report 2 patients with sex chromosome aneuploidies who developed severe aplastic anemia requiring treatment. The first patient had tetrasomy X (48,XXXX) and presented at 9 years of age, and the second patient had trisomy X (47,XXX) and presented at 5 years of age. Although aplastic anemia has been associated with other chromosomal abnormalities, sex chromosome abnormalities have not been traditionally considered a risk factor for this condition. A review of the literature reveals that at least one other patient with a sex chromosome aneuploidy (45,X) has suffered from aplastic anemia and that other autosomal chromosomal anomalies have been described. Despite the uncommon nature of each condition, it is possible that the apparent association is coincidental. A better understanding of the genetic causes of aplastic anemia remains important.

  4. A re-assessment of biochemical marker distributions in T21 affected and unaffected twin pregnancies in the first trimester

    DEFF Research Database (Denmark)

    Madsen, Helen Nordahl; Ball, Susan; Wright, Dave;

    2011-01-01

    for chromosomal abnormalities such as trisomy 21 in twin pregnancies. METHODS: 4843 unaffected and 47 trisomy 21-affected twin pregnancies were included in the study. Chorionicity-specific medians were generated for PAPP-A and free β-hCG from gestational ages 8 to 14 weeks. Multiple of the median values for each...... increased the detection rate for fetal trisomy 21 in dizygotic twin pregnancies from 78 to 90%, and decreased the false-positive rate from 8.0 to 5.9%. CONCLUSION: Generation of chorionicity-specific medians for the biochemical markers and their use in risk assessment can improve the performance of first...... show a gestational age-specific increase relative to singleton medians. Allowing for gestation and chorionicity, twin pregnancies affected with trisomy 21 had higher levels of free β-hCG and lower levels of PAPP-A. Adding biochemistry into the risk assessment using a fixed risk cut-off of 1 in 100...

  5. Chromosomal mechanisms in murine radiation acute myeloid leukemogenesis

    Energy Technology Data Exchange (ETDEWEB)

    Bouffler, S.D.; Breckon, G.; Cox, R. [National Radiological Protection Board, Chilton (United Kingdom)

    1996-04-01

    Chromosome 2 abnormalities, particularly interstitial deletions, characterize murine radiation-induced acute myeloid leukaemias (AMLs). Here, G-band analyses in CBA/H mice of early (1-6 month) post 3 Gy X-radiation events in bone marrow cells in vivo and karyotype evolution in one unusual AML are presented. The early event analysis showed that all irradiated animals carry chromosome 2 abnormalities, that chromosome 2 abnormalities are more frequent than expected and that interstitial deletions are more common in chromosome 2 than in the remainder of the genome. On presentation AML case N122 carried a t(2; 11) terminal translocation which, with passaging, evolved into a del2(C3F3). Therefore two pathways in leukaemogenesis might exist, one deletion-driven, the other terminal tranlocation-driven involving interstitial genes and terminal genes respectively of chromosome 2. As all irradiated individuals carried chromosome 2 abnormalities, the formation of these aberrations does not determine individual leukaemogenic sensitivity as only 20-25% of animals would be expected to develop AML. Similar lines of argument suggest that chromosome 2 abnormalities are necessary but not sufficient for radiation leukaemogenesis in CBA/H nor are they rate limiting in leukaemogenesis. (Author).

  6. Prenatal management, pregnancy and pediatric outcomes in fetuses with septated cystic hygroma

    Directory of Open Access Journals (Sweden)

    C.Y. Sanhal

    2014-09-01

    Full Text Available It has been reported that, compared with simple increased nuchal translucency, fetal cases with septated cystic hygroma (CH are more likely to face perinatal handicaps. However, pediatric outcomes and proper prenatal counseling for this anomaly have not yet been truly defined. We performed this study to determine pregnancy and pediatric outcomes of fetuses with septated CH. We searched records for cases with septated CH and collected data for structural abnormalities, karyotype analysis, and pregnancy outcomes. Fetuses born with septated CH were also evaluated for their pediatric outcomes. Sixty-nine fetuses with septated CH were enrolled in the study. Results showed that chromosomal abnormalities were present in 28 fetuses (40.6%, and the most common aneuploidy was Turner syndrome (n=14, 20.3%; 16 (23.2% of the remaining cases, in which aneuploidy was not found, had coexistent structural malformations; 25 (36.2% cases had normal karyotype and morphology. The total number of live births and infants with unfavorable neurologic follow-up were 13 (18.8% and 2 (2.9%, respectively. Septated CH is associated with poor perinatal outcomes; therefore, karyotype analysis and ultrasonographic anomaly screening should be performed as initial steps, and expectant management should be offered to couples with euploid fetuses that have normal morphology.

  7. Attempted suicide and pregnancy

    Directory of Open Access Journals (Sweden)

    Andrew E. Czeizel

    2011-01-01

    Full Text Available BACKGROUND: The aim of the Budapest Monitoring System of Self-Poisoning Pregnant Women was to evaluate the potential congenital abnormality inducing effect of extremely large doses of drugs among pregnant women who attempted suicide. This system was appropriate to describe the characteristics of these pregnant women as a secondary finding from this model. METHODS: All self-poisoned patients were cared for at a toxicological inpatient clinic in Budapest, between 1960 and 1993. Of a total of 1,044 pregnant women identified from the three different periods of the project, only 19 (1.8% died. Women who survived were visited at home to reveal birth outcomes, and their exposed children were examined medically to identify congenital abnormalities and tested to estimate their cognitive-behavioral status. The previous or subsequent children of these pregnant women were used as controls with a similar examination protocol. RESULTS: In general, self-poisoned pregnant women were young (peak age was between 18 and 20 years, 62% had their first pregnancy, 55% were unmarried, they had lower socioeconomic status, 46% were smokers and 22.5% drinkers, but depression/panic disorder occurred only among 17 pregnant women. Suicide attempts with drugs were most frequent in the fourth post-conceptional week and second month of pregnancy. In general they used smaller doses of drugs for suicide than non-pregnant age-matched women. Of 1,044 self-poisoned pregnant women, 926 had known pregnancy outcomes and 411 (44.4% delivered live-born babies. CONCLUSIONS: The self-poisoning model appears to have several benefits (e.g., dose-response estimation of drugs in comparison with other methods when evaluating teratogenic/fetotoxic effect of drugs. It is suggested that an international monitoring system of self-poisoned pregnant women should be established to provide a larger data base.

  8. Hypertriglyceridemia-Induced Acute Pancreatitis in Pregnancy

    OpenAIRE

    Mindaugas Serpytis; Jurate Dementaviciene; Kestutis Strupas; Audrius Sileikis; Vytautas Karosas; Jurate Sipylaite; Rokas Tamosauskas

    2012-01-01

    Context Hypertriglyceridemia is a well known phenomenon of pregnancy occurring due to physiologic changes in sex hormone levels. Occasionally, it could lead to development of acute pancreatitis. Gestational hypertriglyceridemia-induced acute pancreatitis occurs in pregnant women usually with preexisting abnormalities of the lipid metabolism and is associated with additional diagnostic and therapeutic challenges related to hypertriglyceridemia and pregnancy. Case report We present a case of hy...

  9. Severe Hypertriglyceridemia Induced Pancreatitis in Pregnancy

    OpenAIRE

    Natasha Gupta; Seema Ahmed; Lemuel Shaffer; Paula Cavens; Josef Blankstein

    2014-01-01

    Acute pancreatitis caused by severe gestational hypertriglyceridemia is a rare complication of pregnancy. Acute pancreatitis has been well associated with gallstone disease, alcoholism, or drug abuse but rarely seen in association with severe hypertriglyceridemia. Hypertriglyceridemia may occur in pregnancy due to normal physiological changes leading to abnormalities in lipid metabolism. We report a case of severe gestational hypertriglyceridemia that caused acute pancreatitis at full term an...

  10. A marker chromosome in post-transplant bone marrow

    OpenAIRE

    Morsberger, Laura; Powell, Kerry; Ning, Yi

    2016-01-01

    Detection of small supernumerary marker chromosomes in karyotype analysis represents a diagnostic challenge. While such markers are usually detected during cytogenetic studies of constitutional chromosome abnormalities, they have also been found in specimens submitted from patients with acquired malignancies. We report here the detection of a marker chromosome in a bone marrow specimen from a patient who received a bone marrow transplantation. We discuss the importance of proper characterizat...

  11. Stretch Marks of Pregnancy (Striae of Pregnancy)

    Science.gov (United States)

    ... clinical tools newsletter | contact Share | Stretch Marks of Pregnancy (Striae of Pregnancy) Information for adults A A A Dark purple, ... pregnant women. Overview Striae gravidarum, stretch marks in pregnancy, occur in about 90% of all pregnant women. ...

  12. HIV and Pregnancy

    Science.gov (United States)

    ... Management Education & Events Advocacy For Patients About ACOG HIV and Pregnancy Home For Patients Search FAQs HIV ... HIV and Pregnancy FAQ113, December 2012 PDF Format HIV and Pregnancy Pregnancy What is human immunodeficiency virus ( ...

  13. Acute Pancreatitis and Pregnancy

    Science.gov (United States)

    ... Acute Pancreatitis > Acute Pancreatitis and Pregnancy test Acute Pancreatitis and Pregnancy Timothy Gardner, MD Acute pancreatitis is ... of acute pancreatitis in pregnancy. Reasons for Acute Pancreatitis and Pregnancy While acute pancreatitis is responsible for ...

  14. Street Drugs and Pregnancy

    Science.gov (United States)

    ... and premature birth Zika virus and pregnancy Microcephaly Medicine safety and pregnancy Birth defects prevention Learn how ... Is it safe? > Street drugs and pregnancy Street drugs and pregnancy E-mail to a friend Please ...

  15. Exercise during Pregnancy

    Medline Plus

    Full Text Available ... Global Map Premature birth report card Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal ... Zika virus and pregnancy Microcephaly Medicine safety and pregnancy Birth defects prevention Learn how to help reduce ...

  16. Leg Cramps during Pregnancy

    Science.gov (United States)

    ... Global Map Premature birth report card Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal ... Zika virus and pregnancy Microcephaly Medicine safety and pregnancy Birth defects prevention Learn how to help reduce ...

  17. Alcohol and Pregnancy

    Medline Plus

    Full Text Available ... Global Map Premature birth report card Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal ... Zika virus and pregnancy Microcephaly Medicine safety and pregnancy Birth defects prevention Learn how to help reduce ...

  18. Pregnancy Complications: Bacterial Vaginosis

    Science.gov (United States)

    ... Global Map Premature birth report card Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal ... Zika virus and pregnancy Microcephaly Medicine safety and pregnancy Birth defects prevention Learn how to help reduce ...

  19. Weight Gain during Pregnancy

    Science.gov (United States)

    ... Global Map Premature birth report card Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal ... Zika virus and pregnancy Microcephaly Medicine safety and pregnancy Birth defects prevention Learn how to help reduce ...

  20. Alcohol and Pregnancy

    Medline Plus

    Full Text Available ... Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Body & lifestyle changes Is it safe? Labor & ... Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Body & lifestyle changes Is it safe? Labor & ...

  1. Exercise during Pregnancy

    Medline Plus

    Full Text Available ... Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Body & lifestyle changes Is it safe? Labor & ... Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Body & lifestyle changes Is it safe? Labor & ...

  2. Alcohol during Pregnancy

    Science.gov (United States)

    ... Home > Pregnancy > Is it safe? > Alcohol during pregnancy Alcohol during pregnancy E-mail to a friend Please ... and fetal alcohol spectrum disorders. How does drinking alcohol during pregnancy affect your baby's health? Drinking alcohol ...

  3. Travel during Pregnancy

    Science.gov (United States)

    ... Management Education & Events Advocacy For Patients About ACOG Travel During Pregnancy Home For Patients Search FAQs Travel ... Travel During Pregnancy FAQ055, February 2016 PDF Format Travel During Pregnancy Pregnancy When is the best time ...

  4. Alcohol and Pregnancy

    Science.gov (United States)

    ... report card Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Body & lifestyle changes Is ... Careers Archives Health Topics Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Body & lifestyle changes Is ...

  5. Exercise during Pregnancy

    Science.gov (United States)

    ... report card Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Body & lifestyle changes Is ... Careers Archives Health Topics Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Body & lifestyle changes Is ...

  6. Pregnancy Complications: Cervical Insufficiency

    Science.gov (United States)

    ... report card Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Body & lifestyle changes Is it safe? ... Careers Archives Health Topics Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Body & lifestyle changes Is it safe? ...

  7. Back Pain During Pregnancy

    Science.gov (United States)

    ... Education & Events Advocacy For Patients About ACOG Back Pain During Pregnancy Home For Patients Search FAQs Back ... During Pregnancy FAQ115, January 2016 PDF Format Back Pain During Pregnancy Pregnancy What causes back pain during ...

  8. Exercise during Pregnancy

    Medline Plus

    Full Text Available ... card Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Body & lifestyle changes Is ... Archives Health Topics Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Body & lifestyle changes Is ...

  9. Alcohol and Pregnancy

    Medline Plus

    Full Text Available ... card Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Body & lifestyle changes Is ... Archives Health Topics Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Body & lifestyle changes Is ...

  10. Alcohol and pregnancy

    Science.gov (United States)

    Drinking alcohol during pregnancy; Fetal alcohol syndrome - pregnancy; FAS - fetal alcohol syndrome ... lead to lifelong damage. DANGERS OF ALCOHOL DURING PREGNANCY Drinking a lot of alcohol during pregnancy can ...

  11. Pregnancy scares and subsequent unintended pregnancy

    OpenAIRE

    Heather Gatny; Yasamin Kusunoki; Jennifer Barber

    2014-01-01

    Background: A substantial number of young women experience pregnancy scares - thinking they might be pregnant, and later discovering that they are not. Although pregnancy scares are distressing events, little is known about who experiences them and whether they are important to our understanding of unintended pregnancy. Objective: We describe the young women who experience pregnancy scares, and examine the link between pregnancy scares and subsequent unintended pregnancy. Methods: We us...

  12. Urine - abnormal color

    Science.gov (United States)

    ... medlineplus.gov/ency/article/003139.htm Urine - abnormal color To use the sharing features on this page, please enable JavaScript. The usual color of urine is straw-yellow. Abnormally colored urine ...

  13. Balanced Chromosomal Translocation of Chromosomes 6 and 7: A Rare Male Factor of Spontaneous Abortions

    OpenAIRE

    Resim, Sefa; Kadıoğlu, Ateş; Akman, Tolga; Bayrak, Ayşe Gül; Efe, Erkan

    2013-01-01

    Background: Carriers of structural chromosomal rearrangements such as Robertsonian or reciprocal translocations have an increased risk of spontaneous abortion and producing offspring with genetic abnormalities. Case Report: We report a man with balanced chromosomal translocations located at 6p22, and 7q22. His wife has a history of four spontaneous abortions. Conclusion: Couples with a history of abortions should be investigated cytogenetically, after other causes of mis...

  14. CLL: chromosomal abnormalities (FISH and their relation with clinical stage, CD38 and ZAP-70 Leucemia linfocítica crônica: anormalidades cromossômicas e a sua relação com o estágio clínico CD38 e o ZAP-70

    Directory of Open Access Journals (Sweden)

    Marilia C. Nascimento

    2006-03-01

    Full Text Available Chronic lymphocytic leukemia is the most prevalent type of leukemia in the West. It is characterized by an extremely variable clinical course. The aim of the study was to detect the most frequent chromosomal abnormalities in patients with CLL using FISH, and assess them regarding age, gender, clinical stage and CD38 and ZAP-70 expressions. We found 51.7% of the patients with chromosome abnormalities. The most frequent one was del 13q14 in 34.5% of cases. It was associated to other alterations in 17.2%. 17p13 deletions were found in 17.2% and trisomy 12 in 13.8% (in isolation in 6.9% and associated to del 13q14, in 6.9% of the cases. An 11q22 deletion was found in one case associated to a 13q14 deletion. To better evaluate the relationship between chromosome aberrations and other prognostic factors in CLL, two cytogenetics groups were considered: favorable (13q deletion in isolation and no alteration and unfavorable outcomes (trisomy 12, 17p13 deletion, 11q22 deletion and two simultaneous alterations.The unfavorable alterations were more frequently seen among young individuals (A leucemia linfocítica crônica (LLC é o tipo de leucemia mais prevalente no Ocidente e é caracterizada por curso clínico extremamente variável. O objetivo deste estudo foi detectar as anomalias cromossômicas mais freqüentes em pacientes com LLC, empregando a técnica FISH, e correlacioná-las com idade, sexo, estádio clínico, expressão de CD 38 e ZAP-70. Foram encontradas alterações cromossômicas em 51,7% dos pacientes. A mais freqüente foi a del 13q14, observada em 34,5% dos casos e que esteve associada a outras anomalias em 17,2%. Deleção 17p13 foi encontrada em 17,2% e trissomia 12 em 13,8% (isolada em 6,9% e associada à del 13q14 em 6,9%. Deleção 11q22 foi observada em um caso em concomitância à del 13q14. Para melhor avaliar a relação entre alteração cromossômica e outros fatores prognósticos em LLC, dois grupos citogenéticos foram

  15. Teenage pregnancy.

    Science.gov (United States)

    Molina Cartes, Ramiro; González Araya, Electra

    2012-01-01

    Teen pregnancy is a social problem not resolved in developing and some developed countries. Adolescent fecundity has become the most exact bio-demographic and health indicator of development. In developing countries that are expected to follow the sexual behaviour patterns of developed countries, without offering the levels of education and services for adolescents, the consequences will be adolescent fecundity and STI prevalence increase. The ignorance about sexuality and reproduction both in parents, teachers and adolescents increases the early initiation of coital relations and of unwanted pregnancies. Extreme poverty and being the son or daughter of an adolescent mother are risk factors of repeating the early pregnancy model. The application of predictive risk criteria in pregnant adolescents to facilitate the rational use of Health Services to diminish the maternal and perinatal mortality is discussed as well as the social factors associated with adolescent pregnancy as socioeconomic levels, structure - types and characteristics of the family, early leaving school, schooling after delivery, female employment, lack of sexual education, parental and family attitudes in different periods of adolescent pregnancy, adolescent decisions on pregnancy and children, unstable partner relationship and adoption as an option. Social consequences are analyzed as: incomplete education, more numerous families, difficulties in maternal role, abandonment by the partner, fewer possibilities of having a stable, qualified and well-paid job, greater difficulty in improving their socioeconomic level and less probability of social advancement, lack of protection of the recognition of the child. Finally, based on evidence, some measures that can reduce adverse consequences on adolescent mothers, fathers and their children are suggested. PMID:22846537

  16. Stages of Pregnancy

    Science.gov (United States)

    ... Know your pregnancy rights Getting ready for baby Childbirth and beyond Mom-to-be tools Government in action on pregnancy Pregnancy in Spanish ( en español ) Subscribe to Stages of pregnancy email updates. Enter email address Submit Home > Pregnancy > You're pregnant: Now what? Pregnancy This ...

  17. Evidence for Abnormal Fetal Middle Cerebral Artery Values in Addict Women

    Directory of Open Access Journals (Sweden)

    M. Mohammadi Fard

    2008-01-01

    Full Text Available Background/Objective: Addiction is a risk factor for perinatal morbidity and mortality, although the pre-cise mechanism is unknown. They may alter oxygen delivery to the fetus. The middle cerebral artery (MCA pulsatility index (PI is a sensitive parameter for detection of blood flow redistribution or centrali-zation. The aim of this study was to determine whether addiction, without smoking, is associated with changes in the PI of the MCA and the umbilical artery (UA."nPatients and Methods: The PI of the MCA and UA were determined prospectively in 212 consecutive addict and pregnant women with singleton pregnan-cies (study group and in 212 matched pregnant women without addiction (control group. The con-trol group was matched for maternal age, gravidity, parity and gestational age at examination. Patients with fetal structural or chromosomal anomalies, dia-betes mellitus, and smokers were excluded. A PI be-low the 5th percentile for the MCA was considered abnormal. "nResults: The rate of abnormal MCA PI was signifi-cantly higher in the study group than control group: 33.3% vs. 6.3%, respectively, (p < 0.0001. "nConclusions: Our observations provide evidence of cerebral blood flow redistribution in fetuses with ad-dicted mothers.

  18. Chromosome numbers and meiotic analysis in the pre-breeding of Brachiaria decumbens (Poaceae)

    Indian Academy of Sciences (India)

    Gléia Cristina Laverde Ricci; Alice Maria De Souza-Kaneshima; Mariana Ferrari Felismino; Andrea Beatriz Mendes-Bonato; Maria Suely Pagliarini; Cacilda Borges Do Valle

    2011-08-01

    A total of 44 accessions of Brachiaria decumbens were analysed for chromosome count and meiotic behaviour in order to identify potential progenitors for crosses. Among them, 15 accessions presented $2n = 18$; 27 accessions, $2n = 36$; and 2 accessions, $2n = 45$ chromosomes. Among the diploid accessions, the rate of meiotic abnormalities was low, ranging from 0.82% to 7.93%. In the 27 tetraploid accessions, the rate of meiotic abnormalities ranged from 18.41% to 65.83%. The most common meiotic abnormalities were related to irregular chromosome segregation, but chromosome stickiness and abnormal cytokinesis were observed in low frequency. All abnormalities can compromise pollen viability by generating unbalanced gametes. Based on the chromosome number and meiotic stability, the present study indicates the apomictic tetraploid accessions that can act as male genitor to produce interspecific hybrids with B. ruziziensis or intraspecific hybrids with recently artificially tetraploidized accessions.

  19. 缺陷胎儿终止妊娠产妇抑郁状态调查及护理对策%Survey and nursing measures of depression among pregnant women underwent termination of pregnancy for abnormal fetus

    Institute of Scientific and Technical Information of China (English)

    袁小芳; 王德俊; 朱兰英

    2012-01-01

      目的 分析缺陷胎儿终止妊娠产妇抑郁心理的发生情况及护理方法。 方法 对笔者所在科室2007年1月~2008年1月收治的因胎儿缺陷而终止妊娠的产妇256例采用自评抑郁量表测评,分析产妇终止妊娠后抑郁状态产生情况及护理方法。 结果 256例产妇经测评后,65例存在抑郁症状。通过个体化的护理,所有产妇抑郁症状消除,恢复再孕信心。 结论 缺陷胎儿终止妊娠产妇抑郁症状发生与多种因素有关,临床应及时进行护理干预,以降低产妇抑郁状态发生,恢复产妇再孕信心。%  Objective To discuss the occurrence of depression and nursing measures among pregnant women who underwent termination of pregnancy due to abnormal fetus. Methods 256 pregnant women admitted to our department from January 2007 to January 2008 for termination of pregnancy for abnormal fetus were chosen for Self-rating Depression Scale test. Reasons for depression after the termination of pregnancy and nursing methods were analyzed. Results Among 256 pregnant women,65 patients were found depressed after the test. Depression was removed in all depressed patients after individualized nursing. And confidence of another pregnancy was regained. Conclusion Several factors are responsible for the occurrence of depression among pregnant women who underwent termination of pregnancy for abnormal fetus. In clinical, nursing measures should interfere timely so as to reduce the occurrence of depression and help pregnant women to regain the confidence of another pregnancy.

  20. Linking abnormal mitosis to the acquisition of DNA damage

    OpenAIRE

    Ganem, Neil J.; Pellman, David

    2012-01-01

    Cellular defects that impair the fidelity of mitosis promote chromosome missegregation and aneuploidy. Increasing evidence reveals that errors in mitosis can also promote the direct and indirect acquisition of DNA damage and chromosome breaks. Consequently, deregulated cell division can devastate the integrity of the normal genome and unleash a variety of oncogenic stimuli that may promote transformation. Recent work has shed light on the mechanisms that link abnormal mitosis with the develop...

  1. Misdiagnosed Uterine Rupture of an Advanced Cornual Pregnancy

    OpenAIRE

    Christian Linus Hastrup Sant; Poul Erik Andersen

    2012-01-01

    Cornual pregnancy is a diagnostic and therapeutic challenge with potential severe consequences if uterine rupture occurs with following massive intraabdominal bleeding. We report a case of a misdiagnosed ruptured cornual pregnancy occurring at 21 weeks of gestation. Ultrasound examination and computer tomography revealed no sign of abnormal pregnancy. The correct diagnosis was first made at emergency laparotomy. Uterine rupture should be considered in pregnant women presenting with abdominal ...

  2. Pregnancy Complications

    Science.gov (United States)

    ... Eating disorders Body image changes during pregnancy can cause eating disorders to worsen. Eating disorders are linked to many ... including birth defects and premature birth . Women with eating disorders also have higher ... to control seizures might cause birth defects. For most pregnant women with epilepsy, ...

  3. Teen Pregnancy

    Centers for Disease Control (CDC) Podcasts

    2014-04-16

    In this podcast, Dr. Tom Frieden, CDC Director, discusses the issue of teen pregnancy and some strategies to address it.  Created: 4/16/2014 by National Center for Chronic Disease Prevention and Health Promotion (NCCDPHP).   Date Released: 4/16/2014.

  4. Investigation of QF-PCR Application for Rapid Prenatal Diagnosis of Chromosomal Aneuploidies in Iranian Population

    OpenAIRE

    Habib Nasiri; Mohammad-Reza Noori-Dalooi; Jila Dastan; Saeed-Reza Ghaffari

    2011-01-01

    Objective:G-Banding followed by standard chromosome analysis is routinely used for prenatal detection of chromosomal abnormalities. In recent years, molecular cytogenetic techniques have been developed for rapid diagnosis of chromosomal abnormalities. Among these methods Quantitative Florescence Polymerase Chain Reaction (QF-PCR) has been widely used for this purpose. HHeterozygosity of short tandem repeat (STR) markers which leads to informativity is the most critical requirement for feasibi...

  5. Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review.

    Science.gov (United States)

    Bregand-White, Julia; Saller, Devereux N; Clemens, Michele; Surti, Urvashi; Yatsenko, Svetlana A; Rajkovic, Aleksandar

    2016-09-01

    Over the last decade, several advances in ultrasound techniques, increasing availability of whole genome microarray testing, and overall expansion of our knowledge about the human genome have drastically enhanced our ability to detect chromosomal abnormalities prenatally. Despite that, genotype-phenotype correlation is difficult to establish for many chromosomal aberrations, particularly for those that are rare, as it requires thorough analysis of a significant number of cases. This in turn increases the burden of the obstetric provider to appropriately counsel a patient regarding prognosis and pregnancy options in these complicated situations. Our experience in prenatal diagnosis and management of a fetus with multiple anomalies and partial trisomy for the 14q11-q24.2 prompted a comprehensive analysis of the relevant literature. Although complete non-mosaic trisomy 14 is associated with first trimester miscarriages, partial trisomy 14q is a rare condition with undefined genotype-phenotype correlation, preventing accurate prenatal counseling, and informed decision making. We performed a systematic literature review, that aimed to summarize prenatal and postnatal findings of individual case reports on 51 patients with partial trisomy 14q in order to elucidate genotype-phenotype correlation, and to supply healthcare professionals with recommendation on essential fetal and parental testing for accurate diagnosis, pregnancy outcomes, and proper family counseling. Comparison of the clinical findings among the patients with partial 14q trisomy suggest that the resulting phenotype is likely to be influenced by the extent of the 14q trisomy segment, associated chromosomal imbalances, parental origin of the rearrangement, and dosage of the genes within the imprinted 14q32 cluster. © 2016 Wiley Periodicals, Inc. PMID:27286879

  6. Maternal age, reproduction and chromosomal aberrations in Wistar derived rats.

    Science.gov (United States)

    Niggeschulze, A; Kast, A

    1994-01-01

    The fertility of rats ranges from one to 18 months. In standard teratogenicity testing young, mature females are used which may not reflect the situation in women above 35 years old. Reproduction among different age groups of Wistar ats (strain Chbb: THOM) was compared at 3, 6, 9, 12, 15 and 18 months. At least 20 virgin females were inseminated per age group. The copulation rate did not differ between the groups. From the maternal age of 12 months, the pregnancy rate was significantly decreased, from the age of 9 months, the litter values were significantly lowered and the resorption rates were increased. Maternal age did not influence the incidence of fetal variations and malformations. Additionally, the chromosomal aberration rate in the bone marrow was evaluated in male and female rats. Twelve animals of each sex were scheduled per group, and studied at the age of 1, 3, 6, 12, 15, 18, 21 or 24 months. In males, the aberration rate increased continuously from 0.18 through 3%, while in females the increase continued from 0.33 to 2.29% at 15 months old when a plateau was reached. When testing new compounds for embryotoxicity or genotoxicity in female rats, the animals should be of comparable age to man in order to avoid a misinterpretation of spontaneous abnormalities. From these studies, however, it was concluded that the use of higher age groups of female rats in teratogenicity studies would not improve the risk assessment.

  7. Mycoplasma infection among patients with abnormal pregnancy and drug sensitivity analysis%不良妊娠患者支原体感染及药敏的分析

    Institute of Scientific and Technical Information of China (English)

    赵秋彦; 盘宗敏; 梁国泉; 陈笑娟

    2015-01-01

    Objective To analyze the infection of mycoplasma hominis (Mh) and ureaplasma urealytium (Uu) and drug sensitivity of abnormal pregnant patients from Nansha district in Guangzhou city, so as to offer reference for clinical rational drug use. Methods During January 2011 to December 2013, 750 cases, including 245 cases of sterility, 266 cases of habitual abortion and 239 cases of premature, were randomized sampling into case group. Another 750 normal pregnant women were pair matched into control group according to age, occupation, cultural degree and nutrition condition. Mh and Uu culture and drug sensitivity test were done among 526 samples. Results The detection rates of Uu, Mh and Uu+Mh were 58. 40%, 3. 07% and 3. 87% respectively in observation group, which were higher than those of the control group (χ2 value was 358. 66,7. 411 and 7. 247, respectively, all P0. 05), but that of Uu was higher in cases of sterility, habitual abortion and premature than the control group (χ2 value was 231. 856, 224. 418 and 227. 530, respectively, all P0.05),其中观察组中不孕、习惯性流产者、早产Uu的检出率均高于对照组(χ2值分别为231.856、224.418、227.530,均P<0.05);观察组中不孕、习惯性流产者 Mh和 Uu+Mh检出率均高于对照组(χ2值分别为5.642、8.181;2.849、8.841;均P<0.05)。 Uu对甲砜霉素、美满霉素和交沙霉素都具有较高的敏感性(85.71%~77.71%),Mh对强力霉素、交沙霉素和美满霉素高度敏感(90.32%~100.00%);Uu+Mh对交沙霉素、强力霉素、美满霉素均具有较高的敏感性(80.49%~87.80%)。结论生殖道支原体感染能引起不孕症、习惯性流产及早产等;监测其药敏变迁对合理用药非常重要。

  8. Multiple luteinizing hormone receptor (LHR protein variants, interspecies reactivity of anti-LHR mAb clone 3B5, subcellular localization of LHR in human placenta, pelvic floor and brain, and possible role for LHR in the development of abnormal pregnancy, pelvic floor disorders and Alzheimer's disease

    Directory of Open Access Journals (Sweden)

    Fernando Romaine I

    2003-06-01

    Full Text Available Abstract Distinct luteinizing hormone receptor (LHR protein variants exist due to the posttranslational modifications. Besides ovaries, LHR immunoreactivity (LHRI was also found in other tissues, such as the brain, fallopian tube, endometrium, trophoblast and resident tissue macrophages. The 3B5 mouse monoclonal antibody was raised against purified rat LHR. In rat, porcine and human ovaries, the 3B5 identified six distinct LHR bands migrating at ~92, 80, 68, 59, 52 and 48 kDa. Characteristic LHRI was detected in rat, human and porcine corpora lutea. During cellular differentiation, subcellular LHR distribution changed from none to granular cytoplasmic, perinuclear, surface, nuclear and no staining. There were also differences in vascular LHR expression – lack of LHRI in ovarian vessels and strong staining of vessels in other tissues investigated. In normal human term placentae, villous LHRI was associated with blood sinusoids and cytotrophoblast cells, and rarely detected in trophoblastic syncytium. In all abnormal placentae, the LHRI of sinusoids was absent, and syncytium showed either enhanced (immature placental phenotypes or no LHRI (aged placental phenotype. LHRI in human brain was identified in microglial cells (CD68+ resident macrophages. Protein extracts from human vaginal wall and levator ani muscle and fascia showed strong ~92 and 68 kDa species, and LHRI was detected in smooth muscle cells, fibroblasts, resident macrophages and nuclei of skeletal muscle fibers. Our observations indicate that, in contrast to the theory on the role of vascular hormone receptors in preferential pick up of circulating hormones, there is no need to enhance selective pick up rather only prevent LH/CG transport to inappropriate sites. Abnormal placental LHR expression may play a role in the development of abnormal pregnancy. Expression of LHR in the pelvic floor compartments suggests that high LH levels in postmenopausal women may contribute to the pelvic

  9. Mathematical Modeling of Carcinogenesis Based on Chromosome Aberration Data

    Institute of Scientific and Technical Information of China (English)

    Xiao-bo Li

    2009-01-01

    Objective: The progression of human cancer is characterized by the accumulation of genetic instability. An increasing number of experimental genetic molecular techniques have been used to detect chromosome aberrations. Previous studies on chromosome abnormalities often focused on identifying the frequent loci of chromosome alterations, but rarely addressed the issue of interrelationship of chromosomal abnormalities. In the last few years, several mathematical models have been employed to construct models of carcinogenesis, in an attempt to identify the time order and cause-and-effect relationship of chromosome aberrations. The principles and applications of these models are reviewed and compared in this paper. Mathematical modeling of carcinogenesis can contribute to our understanding of the molecular genetics of tumor development, and identification of cancer related genes, thus leading to improved clinical practice of cancer.

  10. Chromosome number reports in Astragalus sect. Onobrychoidei (Fabaceae from Iran

    Directory of Open Access Journals (Sweden)

    Massoud Ranjbar

    2015-01-01

    Full Text Available In this study, original mitotic chromosome counts have been presented for 10 populations belonging to 6 species of Astragalus sect. Onobrychoidei: A. aduncus, A. arguricus, A. cancellatus, A. lilacinus and A. vegetus. All taxa were diploid and possessed 2n = 2x = 16 chromosome number, consistent with the proposed base number of x = 8. In addition, meiotic studies revealed chromosome number of 2n = 2x = 16 for A. aduncus21 and A. brevidens and also 2n = 4x = 32 for A. vegetus99. Although this taxon displayed regular bivalent pairing and chromosome segregation at meiosis, some abnormalities were observed.

  11. Clinical Analysis on Therapeutic Effect of Low Molecular Weight Heparin and CSDP on Abnormal Umbilical Artery Blood Flow in the Third Trimester of Pregnancy%低分子肝素联合复方丹参滴丸治疗妊娠中晚期脐动脉血流异常的临床分析

    Institute of Scientific and Technical Information of China (English)

    汪群

    2013-01-01

    Objective To investigate the clinical effects of low molecular weight heparin (LMWH) combined with CSDP on pregnant women with umbilical cord blood flow S/D value abnormality in the third trimester of pregnancy. Methods According to different medications, 89 pregnant women with umbilical cord blood flow S/D value abnormality in the third trimester of pregnancy were divided into two groups. The control group was given LMWH, while the observation group was treated with LMWH plus CSDP. The changes in umbilical cord blood flow and coagulation function were observed before and after the treatment. Results Compared with before the treatment, S/D ratio, PI and RI of pregnant women of two groups were significantly reduced after the treatment, and the differences were statistically significant. There were statistically significant differences in PI between the two groups (Ρ<0.001). After the treatment, descending rate of umbilical artery S/D ratio and treatment duration in the observation group were superior to those of control group (P<0.001, P<0.01). Conclusions Combined use of LMWH and CSDP in treating umbilical cord blood flow S/D value abnormality has the advantages of increasing placental blood flow and faster descending umbilical artery S/D ratio; moreover, it has no effect on blood coagulation. The remedy is worthy of popularization and application.%目的 探讨低分子肝素联合复方丹参滴丸治疗妊娠中晚期脐动脉血流异常的临床效果. 方法 将89例妊娠中晚期脐动脉血流异常的患者,按治疗方案不同分为两组,对照组给予低分子肝素治疗;观察组加用复方丹参滴丸治疗.观察两组治疗前后脐血流变化及凝血功能的变化. 结果 两组孕妇治疗后S/D比值、PI、RI均明显降低,与治疗前比较差异均有统计学意义;对照组凝血指标搏动指数与观察组比较差异有统计学意义(P<0.001);观察组患者治疗后脐动脉血流S/D比值下降速度及治

  12. 湘潭地区344例遗传咨询高危孕妇羊水染色体分析在产前诊断中的应用%Application of amniotic fluid's chromosome analysis in prenatal diagnosis for 344 cases of genetic counseling high risk pregnancy

    Institute of Scientific and Technical Information of China (English)

    熊敏; 王淑嫒; 孙辉

    2011-01-01

    Objective; To investigate the application of amniotic fluid's chromosome analysis in prenatal diagnosis. Methods; Am-niotic fluid (20-30 ml) was drawn from fetuses of 344 pregnant mothers who were diagnosed in prepotency department, Xiangtan MCH Hospital from Jun. 2007 to Aug. 2010 with high risks of genetic counseling, by amniocentesis under ultrasound monitoring at 18 -28 gestational age, and then amniotic - fluid cell culture's C - banding was examed by using amniotic - fluid chromosomal karyo-type analysis. Results; Amniotic cell culture was successfully undertaken in 342 among the 344 cases. The success rate of amniotic cell culture was 99. 41% (342/344). There were 15 cases found karyotype abnormal, the abnormal rate was 4. 39% (15/342) which includes 3 of 21 -trisomy, 2 of 18 -trisomy, 2 of Turner Syndrome (TS) , 1 of 48, XXY, +21, 4 of balanced translocation, 1 of inversion, lof trisomy, 1 of monosomy, 10 of genetic diversity. The abnormal karyotype analysis for karyotype of amniotic cell was consistent with the results of succedent visit. Conclusion; Amniotic fluid's chromosome analysis plays an important part when diagnosing chromosome diseases in prenatal diagnosis.%目的 探讨羊水染色体分析在产前诊断中的应用.方法 对344例2007年6月至2010年8月湖南省湘潭市妇幼保健院遗传咨询高危孕妇,于孕18~28周在B超引导下进行羊膜腔穿刺,抽取羊水20~30ml,羊水细胞培养G显带进行羊水染色体核型分析.结果 344例孕妇羊水羊水细胞培养成功342例,成功率为99.41%(342/344),发现异常核型15例,异常率为4.39%(15/342),其中21-三体3例、18-三体2例、特纳综合征2例、48,XXY,+21 1例、平衡易位4例、倒位1例、部分染色体三体1例、部分染色体单体1例;遗传多态性10例.羊水染色体异常核型分析与随访结果一致.结论 说明羊水染色体分析在产前诊断染色体病中起着重要的作用.

  13. [Pregnancy and the thyroid gland].

    Science.gov (United States)

    Schlienger, J L; Dreyfus, M

    1993-01-01

    During pregnancy the thyroid should adapt itself to the availability of the least quantities of iodides necessary to synthesis hormones and to several other possible modifications such as a rise in the thyroxine-binding globulin and the thyroid stimulating effect of beta-hCG. An increase in size of the thyroid gland is very common. The interpretation of the parameters used to diagnose abnormalities of thyroid function can be carried out. Although the development of the fetal thyroid can take place independently of the maternal thyroid behaviour, an abnormal thyroid function in the mother can not occur without affecting the pregnancy. Grave's disease can cause either fetal or neonatal hyperthyroidism due to a transplacental transfer of thyroid stimulating immunoglobulins or hypothyroidism secondary to the use of too large doses of synthetic antithyroid products. Pregnancy itself favours hyperthyroidism. Maternal hypothyroidism which has not been treated is rarer because of a lack of fertility. It can cause repercussions on the fetus that have probably been over estimated. When pregnancy occurs in a hypothyroid woman who is being treated the dosages of drugs that she is being given should be increased by 20-30%. Providing a good knowledge of the thyroid parameters and keeping the patient preferably euthyroid in cases where thyroid dysfunction can occur, the pregnancy can continue normally whatever the state of the mother thyroid function was. The risks to the fetus are minimal. In women who are at risk it is very important to keep controlling the thyroid state after delivery when there is an immunological rebound which may lead to a relapse in Grave's disease and to post-partum thyroiditis. PMID:7693795

  14. Nonrandom chromosomal changes in human malignant cells

    Energy Technology Data Exchange (ETDEWEB)

    Rowley, J D

    1977-01-01

    The role of chromosomal changes in human malignant cells has been the subject of much debate. The observation of nonrandom chromosomal changes has become well recognized in chronic myelogenous leukemia, and more recently in acute myelogenous leukemia. In the present report, data are presented on the sites of duplication of chromosome No. 1 in hematologic disorders. Trisomy for region lq25 to lq32 was observed in every one of 34 patients whose cells showed duplication of some part of chromosome No. 1. Adjacent regions lq21 to lq25, and lq32 to lqter, also were trisomic in the majority of patients. Two patients had deletions, one of lq32 to qter, and the other, of lp32 to pter. The sites of chromosomal breaks leading to trisomy differ from those involved in balanced reciprocal translocations. Some of these sites are sometimes, but not always, vulnerable in constitutional chromosomal abnormalities. The nature of the proliferative advantage conferred on myeloid cells by these chromosomal changes is unknown.

  15. Genotyping analysis for the 46 C/T polymorphism of coagulation factor XII and the involvement of factor XII activity in patients with recurrent pregnancy loss.

    Directory of Open Access Journals (Sweden)

    Eriko Asano

    Full Text Available BACKGROUND: Established causes of recurrent pregnancy loss (RPL include antiphospholipid syndrome, uterine anomalies, parental chromosomal abnormalities, particularly translocations and abnormal embryonic karyotype. A systematic review concluded that coagulation factor XII (FXII deficiency was associated with RPL. However, it could not be established whether the 46 C/T SNP of FXII or low activity of FXII was a risk factor for RPL, because of the small sample size. METHODS AND FINDINGS: We conducted a cross-sectional and cohort study in 279 patients with two or more unexplained consecutive pregnancy losses and 100 fertile women. The association between the lupus anticoagulant (LA activity and FXII activity was examined. The frequency of the CC, CT and TT genotypes and the FXII activity were also compared between the patients and controls. Subsequent miscarriage rates among the CC, CT, TT genotypes and according to the FXII activity was examined. LA was associated with reduced FXII activity. The CT, but not the TT, genotype was confirmed to be a risk factor for RPL in the cross-sectional study using multivariate logistic regression analysis (OR, 2.8; 95% CI, 1.37-5.85. The plasma FXII activity in the patients was similar to that in the controls. Neither low FXII activity nor the CT genotype predicted the subsequent pregnancy outcome in the cohort study. On the other hand, and intermediate FXII activity level of 85-101% was predictive of subsequent miscarriage. CONCLUSIONS: Low FXII activity was not associated with RPL. The FXII gene was found to be one of the significant susceptibility genes for RPL, similar to the FV Leiden mutation. However, the clinical influence of the CT genotype might be relatively small, because the presence/absence of this genotype did not have any predictive value for the subsequent pregnancy outcome. This was the first study indicating the influence of FXII 46C/T on further pregnancy outcomes.

  16. [Teenage pregnancy].

    Science.gov (United States)

    Mora-Cancino, María; Hernández-Valencia, Varcelino

    2015-05-01

    In Mexico, 20% of the annual births are presented in women younger than 20 years old. Pregnancy in adolescents puts at risk mother and child health. This risk is major while the woman is younger, especially when the social and economic conditions are not favorable, which is decisive in later psychosocial development. It has been pointed out that the youths with low education, with minor academic and laboral expectations, with low self-esteem and assertiveness, tend to begin early their active sexual life, to use less frequently contraceptives, and in the case of younger women, to be pregnant, with the risk of abortion because they cannot to make the best decision. It is important to take into account the social context and the special characteristics of the family to understand situation of adolescent at risk of pregnancy. PMID:26233975

  17. Intracytoplasmic sperm injection (ICSI) and chromosomally abnormal spermatozoa

    NARCIS (Netherlands)

    P.A. in 't Veld; F.J.M. Broekmans (Frank); H.F. de France; P.L. Pearson; M.H. Pieters; R.J. van Kooij

    1997-01-01

    textabstractAn infertile couple was referred for intracytoplasmic sperm injection (ICSI) because of primary infertility and oligoasthenoteratozoospermia (OAT) in the male. It was observed that although the sperm cells presented with an unusual head size and multiple tai

  18. Chromosomal Abnormalities and Putative Susceptibility Genes in Autism Spectrum Disorders

    DEFF Research Database (Denmark)

    Nielsen, Mette Gilling

    Autism spectrum disorders (ASDs) is a heterogeneous group of neurodevelopmental disorders with a significant genetic component as shown by family and twin studies. However, only a few genes have repeatedly been shown to be involved in the development of ASDs. The aim of this study has been...

  19. Teenage Pregnancy

    OpenAIRE

    Lee, Basil

    1984-01-01

    More liberal teenage behavior has made pregnancy in this age group an important issue. Live births to adolescent mothers have decreased, while therapeutic abortions for this age group have increased by 27.9% in Canada. The obstetrical and psychosocial risks of the pregnant teenager are related more to inadequate care than to her age. There is a higher perinatal mortality rate among infants born of teenaged mothers. Risk of abuse, neglect, or developmental delay is mitigated by family and soci...

  20. Y chromosome microdeletions in Turkish infertile men

    Directory of Open Access Journals (Sweden)

    Zamani Ayse

    2006-01-01

    Full Text Available AIMS: To detect the frequency and types of both chromosomal abnormalities and Y chromosome microdeletions in infertile men attending to our university intracytoplasmic sperm injection ICSI/IVF centre and fertile control subjects in our patient population. SETTINGS AND DESIGN: A total of 50 infertile men who were referred to IVF center of Meram medical faculty were selected for the molecular azospermia factor (AZF screening program. MATERIALS AND METHODS: Karyotype analysis and polymerase chain reaction amplification using 15 Y-specific sequence-tagged sites of AZF region were done. RESULTS: The total prevalence of chromosomal abnormalities was found to be 10% (5/50, including 4 patients with numerical and 1 patient with structural abnormalities. Overall, 4 of the 50 patients tested (8% exhibited deletions of the Y chromosome, 3 of them being azospermic and 1 of them oligospermic men. The frequency of the microdeletions in subgroups with azospermia and oligozoospermia was found to be 10.7% (3/29 and 4.7% (1/21 respectively. Microdeletions of AZFb and AZFc regions were detected in all of the 4 patients. Neither AZFa nor AZFd microdeletions were indicated. CONCLUSIONS: Our findings suggest that one must know whether there is a genetic cause for male infertility before patients can be subjected to ISCI or testicular sperm extraction (TESE/ISCI treatment.

  1. 宁波市4539例高龄孕妇胎儿染色体异常发生情况分析%Analysis of fetal chromosomal karyotypes in 4539 elderty gravida in Ningbo, China

    Institute of Scientific and Technical Information of China (English)

    潘婕文; 陈志央; 余颀; 陈怡博; 庄丹燕; 王飞

    2014-01-01

    Objective To analysis and summary the chromosome abnormal existing in old pregnant women from 2002 to 2013,and to provide basis for clinicians intervene the fetus with chromosome disorders.Methods The 4 539 pregnant women in Ningbo city from 2002 August to 2013 October accepted the fetal karyo type detection,were retrospective analyzed,the frequency of abnormal chromosomal karyotypes was calculated according to different age groups,and the pregnancy outcomes of the old pregnant women were followed up.Thechi-square testswere performed on the frequency dateof the abnormal chromosome karyotype,polymorphism,and serum screening of high risk for fetal chromosome detection of less than 35-years-old pregnant women.Results The total of advanced maternal age pregnancyduring the past 11 years in Ningbo City is 32 080,and the follow-up rate was 99.90%,there are 10 infants borned with chromosomal abnormalities,the 1 290 caseswere detected withadverse pregnancy.A total of 4 539 advanced maternal age pregnancyaccepted amniocentesis,in those we found 107 cases of chromosome abnormality fetus,116 cases of polymorphism.A total of 5 232 high-risk pregnant women accepted the serum screening in the same period (less than 35 years old),finding 135 cases of fetal chromosome abnormal and 69 cases of polymorphism.Conclusion To strengthen the prenatal diagnosis,especially for puerperae above the age of 39,will lower the birth rate of infants with chromosome disease and will be conducive to the high quality of population in Ningbo.%目的 分析宁波市高龄孕妇胎儿染色体异常发生情况,为临床干预染色体疾病胎儿的出生提供依据.方法 回顾性研究.对宁波市2002年8月至2013年10月行胎儿染色体核型检测的4 539例高龄孕妇,按年龄分组作胎儿染色体异常发生率统计.追踪随访高龄孕妇的妊娠结局.对35岁以下孕妇染色体核型异常、多态性与血清筛查高风险进行x2检验.结果 11

  2. Induction of site-specific chromosomal translocations in embryonic stem cells by CRISPR/Cas9

    OpenAIRE

    Junfeng Jiang; Li Zhang; Xingliang Zhou; Xi Chen; Guanyi Huang; Fengsheng Li; Ruizhe Wang; Nancy Wu; Youzhen Yan; Chang Tong; Sankalp Srivastava; Yue Wang; Houqi Liu; Qi-Long Ying

    2016-01-01

    Chromosomal translocation is the most common form of chromosomal abnormality and is often associated with congenital genetic disorders, infertility, and cancers. The lack of cellular and animal models for chromosomal translocations, however, has hampered our ability to understand the underlying disease mechanisms and to develop new therapies. Here, we show that site-specific chromosomal translocations can be generated in mouse embryonic stem cells (mESCs) via CRISPR/Cas9. Mouse ESCs carrying ...

  3. Teenage pregnancy in type 1 diabetes mellitus.

    LENUS (Irish Health Repository)

    Carmody, David

    2010-03-01

    Younger maternal age at delivery has been linked to adverse reproductive outcomes. Pregnancy complicated by type 1 diabetes mellitus (T1DM) is also associated with adverse pregnancy outcomes. Optimising diabetic glycaemic control prior to pregnancy is known to reduce the rate of congenital abnormalities and improve pregnancy outcomes. Teenage pregnancies are not usually planned and little data exist on teenage pregnancy complicated by T1DM. We sought to identify the glycemic control achieved in teenage pregnancy with T1DM and to clarify if there is an associated increase in adverse pregnancy outcomes compared to those seen in older women with T1DM. We compared outcomes in 18 teenagers (TG) with 582 older women with T1DM (CON) from 1995-2007. TG booked to the combined diabetes-obstetrical service at a median gestational age of 11 weeks (range 6-22) compared to 7 weeks in CON (range 4-40, p < 0.02). Glycaemic was worse in TG compared to CON at 13, 26 and 35 weeks gestation, despite higher insulin doses. First trimester miscarriage rate did not differ between groups. Major congenital anomaly rate was 6.2% (1\\/16) compared to 3.2% in CON. This preliminary study has demonstrated that pregnant teenage women with T1DM book later to specialised care and have worse glycaemic control in pregnancy compared to older women with T1DM. This group also appear to be more insulin resistant than older women in early pregnancy. Our data would suggest that teenagers with type 1 diabetes mellitus may constitute a high-risk group for adverse pregnancy outcomes.

  4. Advances in interspecific pregnancy

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    Interspecific pregnancy in which the conceptus and female carrying the pregnancy are of different species is a key step to interspecific cloning. Cloning endangered animals by interspecific pregnancy is such a highlight catching people's eyes nowadays. In this article, the history of interspecific pregnancy, the methods for establishment of interspecific pregnancy, the corresponding theories, barriers and applied prospects are reviewed.``

  5. [Iodine deficiency during pregnancy ].

    Science.gov (United States)

    de Luis, D A; Aller, R; Izaola, O

    2005-09-01

    Iodine is an essential micronutrient, it would be administered every day with our diet. The main role of this micronutrient is the synthesis of thyroid hormone. Thyroid hormones are related with brain development and metabolic regulation. Iodine deficit is related with goitre, and an important problem "diseases related with iodine deficiency", including high rate of neonatal mortality, decrease of intelligence, delayed of growth, high rate of aborts and congenital abnormalities.A risk group is pregnant women. Some authors have been demonstrated the utility of iodine supplementation during pregnancy. A systematic review of Cochrane group has shown that iodine supplementation during pregnancy decreased neonatal mortality RR 0.71 (0.56-0.9), and decrease the incidence of cretinism in children under 4 years RR 0.27 (0.12-0.6). As final recommendations, a program in pregnant women must be development to treat with iodine such as we make with folic acid. Pills with iron and iodine (1 mg iron and 25 ug iodine) have been demonstrated better results that pills with iodine. Tablets are the main presentation due to the role of the women in our Society and the work time. Programs of iodine enriched salt have been demonstrated a follow up of 50%. PMID:16386080

  6. Pregnancy and ionizing radiation

    International Nuclear Information System (INIS)

    Full text: In this report there will be presented the effects of ionizing radiation at the fetus and the necessary radioprotection. The biological results on the fetus, caused by the irradiation, depend on the dose of ionizing radiation that it receives and the phase of its evolution. The imminent effects of the irradiation can cause the fetus death, abnormalities and mental retardation, which are the result of overdose. The effects are carcinogenesis and leukemia, which are relative to the acceptable irradiating dose at the fetus and accounts about 0,015 % per 1 mSv. The effects of ionizing radiation depend on the phase of the fetus evolution: 1st phase (1st - 2nd week): presence of low danger; 2nd phase (3rd - 8th week): for doses >100 mSv there is the possibility of dysplasia; 3rd phase (8th week - birth): this phase concerns the results with a percentage 0,015 % per 1 mSv. We always must follow some rules of radioprotection and especially at Classical radiation use of necessary protocols (low dose), at Nuclear Medicine use of the right radioisotope and the relative field of irradiation for the protection of the adjacent healthy tissues and at Radiotherapy extreme caution is required regarding the dose and the treatment. In any case, it is forbidden to end a pregnancy when the pregnant undergoes medical exams, in which the uterus is in the beam of irradiation. The radiographer must always discuss the possibility of pregnancy. (author)

  7. Isolated abnormal strict morphology is not a contraindication for intrauterine insemination.

    Science.gov (United States)

    Lockwood, G M; Deveneau, N E; Shridharani, A N; Strawn, E Y; Sandlow, J I

    2015-11-01

    This study sought to investigate whether isolated abnormal strict morphology (intrauterine insemination (IUI). This was a retrospective study performed at an Academic Medical Center/Reproductive Medicine Center. Four hundred and eight couples were included for 856 IUI cycles. 70 IUI cycles were performed in couples with abnormal strict morphology and otherwise normal semen parameters. Outcomes were measured as clinical pregnancy rate per IUI cycle as documented by fetal heart activity on maternal ultrasound. Clinical pregnancy rate did not significantly differ between the group with abnormal strict morphology [11/70 (15.7%)] and the normal morphology group [39/281 (13.9%)]. Additionally, there was no significant difference between the pregnancy rate in the abnormal morphology group compared to that of our overall institutional IUI pregnancy rate [145/856 (16.9%)]. Furthermore, there was no significant difference between pregnancy rate in the very low morphology group [3/14 (21.4%)] compared to those with normal morphology or the overall IUI pregnancy rate. Patients with isolated abnormal strict morphology have clinical pregnancy rates similar to those with normal morphology for IUI. Even in those with very low normal forms, consideration of IUI for assisted reproduction should not be excluded. PMID:26384603

  8. Analysis of chromosomal karyotypes in 1950 cases of genetic counseling in Zaozhuang%枣庄地区1950例遗传咨询者细胞染色体核型分析

    Institute of Scientific and Technical Information of China (English)

    孙尚军; 甘信辉

    2013-01-01

    Zaozhuang 1950 cases genetic counseling's peripheral blood cell culture, conventional preparation of chromosome and G banding karyotype were analysed. It was found 175 cases abnormalities, abnormalities frequency for 8. 97% (175/1950) , abnormal karyotype involves trisomy, haplotype, Robertsonian translocation, and unbalanced rearrangement. 1125 cases of adverse pregnancy history subjects, detected abnormal karyotype 89 cases, accounting for abnormal karyotype 51% (89/175) , and varying degrees of mental retardation 356 cases, detected abnormal karyotype 54 cases, accounting for abnormal karyotype 31% (54/175), infertility 469 cases, abnormal karyotype 32 cases, accounting for 18% of the abnormal karyotype (32/175). Karyotype analysis for adverse pregnancy history, mental retardation, infertility, disease diagnosis is important, and interrelate to D, G group of the short arm of variation, and the length of the Y chromosome variation, these should cause clinical attention.%本文对枣庄地区1950例遗传咨询者进行外周血细胞培养,常规染色体制备,G显带核型分析,共检出异常核型175例,异常率为8.97% (175/1950),异常核型涉及到三体型、单体型、罗伯逊易位、不平衡重排等.受检者中不良孕产史1125例,检出异常核型89例,占异常核型的51% (89/175);不同程度的智力低下356例,异常核型54例,占异常核型的31% (54/175);不孕不育469例,异常核型32例,占异常核型的18% (32/175).结果表明,染色体核型分析对不良孕产史、智力低下、不孕不育等疾病的诊断具有重要意义,并且与D、G组短臂变异和Y染色体长度变异也有一定的相关性,应引起临床上高度重视.

  9. The clinical value of Mood glucose and insulin detection in early period of pregnancy on predicting abnormal glucose metabolism%妊娠初期检测血糖和胰岛素预测糖代谢异常的临床意义

    Institute of Scientific and Technical Information of China (English)

    陈丽萍

    2012-01-01

    Objective To investigate the correlation of fasting plasma glucose (FPG) in early period of pregnancy and abnormal glucose metabolism during gestation period.Methods Two hundred and seventy-seven women with single pregnancy and non-propregnant diabetes mellitus were selected.FPG,fasting insulin,insulin resistance index were detected in early period of pregnancy ( <19 weeks).One hundred g oral glucose tolerant test (OGTT) was taken during 24-36 weeks.According to OGTT,patients were divided into gestational impaired glucose tolerance (GIGT) group (24 cases),gestational diabetes mellitus(GDM) group(23 cases),OGTT 1 h higher blood glucose (HG-1) group (26 cases) and normal group (204 cases).Results FPG,fasting insulin and insulin resistance index of GDM group and HG-1 group were obviously higher than those of normal group [( 4.58 ± 0.36 ),( 4.58 ± 0.38) mmol/L vs.( 4.20 ±0.33) mmol/L,(9.4 ± 1.1),(9.3 ±2.1) U/L vs.(7.0 ± 2.1) U/L,2.0 ± 0.4,2.0 ± 0.3 vs.1.3 ± 0.4,P< 0.05].FPG of GIGT group [(4.45 ±0.36) mmol/L] was higher than that of normal group (P <0.05).After controlled age,body mass index,family history of type-2 diabetes mellitus and sport exercises,the relative risk degree of blood glucose metabolism had correlation with FPG,fasting insulin and insulin resistance index in early period of pregnancy (P < 0.05).Conclusion FPG,fasting insulin and insulin resistance index in early period of pregnancy can predict abnormal glucose metabolism.%目的 探讨妊娠初期空腹血糖(FPG)与妊娠期糖代谢异常的相关性.方法 单胎非孕前糖尿病孕妇277例,在妊娠初期(<19周)检测FPG、空腹血胰岛素、胰岛素抵抗指数.在妊娠24 ~ 36周行100 g口服葡萄糖耐量试验(OGTT),按OGTT结果进行分组,妊娠期糖耐量受损(GIGT)组24例,妊娠期糖尿病(GDM)组23例,OGTT1 h高血糖(HG-1)组26例,正常组204例.结果 GDM组和HG-1组FPG、空腹血胰岛素、胰岛素抵抗指数均明显高于正常组[(4.58±0

  10. A Case Report of Ruptured Spontaneous Heterotopic Pregnancy

    Directory of Open Access Journals (Sweden)

    F Seidoshohadaei

    2008-04-01

    Full Text Available ABSTRACT: Introduction & Objective: Heterotopic pregnancy refers to the simultaneous occurrence of pregnancy intrauterine and outside of uterine corpus. It is most often manifested in women who have undergone artificial reproductive technology (ART but rarely occurs spontaneously. Heterotopic pregnancy still remains as a diagnostic and therapeutic challenge to practitioners. In this situation physicians should have high suspicion for diagnosis and intrauterine pregnancy protection. This study reported a case of ruptured spontaneous heterotopic pregnancy. Case: A 32 year-old woman with abdominal pain, nausea, vomiting and hypovolumic shock in 1386 referred to emergency department in Sanandaj hospital. She reported one previous cesarean section. On examination, the patient's abdomen was distended. She had generalized tenderness and rebound tenderness in abdomen. The ultrasonographic examination revealed large amount of fluid in pelvic and abdominal cavity with a large hematoma in right adnex but there was intrauterine pregnancy at 7 weeks with normal fetal heart activity. She underwent laparotomy for heterotopic pregnancy and ruptured tube with tubal pregnancy removed. Intrauterine pregnancy continued without problem and led to birth of a healthy female neonate. Conclusion: Physicians should be quite cautious of heterotopic pregnancy in woman at reproductive age. Any abnormality on physical examination or ultrasonography of a patient with intrauterine pregnancy and abdominal pain should heighten the clinician's suspicion for heterotopic pregnancy

  11. Undetected sex chromosome aneuploidy by chromosomal microarray.

    Science.gov (United States)

    Markus-Bustani, Keren; Yaron, Yuval; Goldstein, Myriam; Orr-Urtreger, Avi; Ben-Shachar, Shay

    2012-11-01

    We report on a case of a female fetus found to be mosaic for Turner syndrome (45,X) and trisomy X (47,XXX). Chromosomal microarray analysis (CMA) failed to detect the aneuploidy because of a normal average dosage of the X chromosome. This case represents an unusual instance in which CMA may not detect chromosomal aberrations. Such a possibility should be taken into consideration in similar cases where CMA is used in a clinical setting.

  12. Study of the Effects of Maternal Subclinical Thyroid Abnormalities during Early and Midtrimester Pregnancy on the Offspring′s Thyroid Function,Intellectual and Physical Development%妊娠早中期妇女亚临床甲状腺功能异常对后代甲状腺功能和智力及身体发育的影响

    Institute of Scientific and Technical Information of China (English)

    刘小莲; 邱文; 梁秋波; 冯娟; 黄善周; 张海业

    2012-01-01

    目的 探讨妊娠早中期妇女亚临床甲状腺功能异常对后代甲状腺功能、智力和身体发育情况的影响.方法 选择2004年7月-2006年1月40例妊娠早中期亚临床甲状腺功能异常妇女及30例健康妇女的后代分别作为研究组和对照组.测定两组婴儿在新生儿期、12、24、36个月龄时的甲状腺功能[游离三碘甲状腺原氨酸(FT3)、游离甲状腺素(FT4)、促甲状腺激素(TSH)]、发育商、语言和功能构成、身长及体质量等指标,比较两组婴儿有无差异.结果 新生儿期研究组的TSH显著高于对照组,血清FT4、FT3水平明显低于对照组(P<0.05).12、24、36个月两组的TSH、FT4、FT3水平差异均无统计学意义(P>0.05).研究组的发育商在新生儿期、12、24、36个月均明显低于对照组(P<0.05).研究组的身体发育在新生儿期、12、24、36个月均滞后于对照组(P<0.05).结论 妊娠早中期妇女亚临床甲状腺功能异常可能给后代的智力、身体发育造成不良影响,又可能引起短期的甲状腺功能异常,提示筛查和积极治疗妊娠早中期亚临床甲状腺异常对优生优育的必要性,加强患甲状腺疾病的母亲及其孩子的管理十分重要.%Objective To investigate the influence of maternal subclinical thyroid abnormality during early and midtri -mester pregnancy over the offspring's thyroid function, intellectual development and body development. Methods A total of 40 children whose mothers were subclinical thyroid abnormality patients in Xinyi People 's Hospital between July 2004 to January 2006 were enrolled as the case group. Additional 30 children whose mothers were healthy were also collected as control group. All the 70 children's thyroid function (FT3, FT4, TSH) , intelligent quotient, language development, height and weight when chil-dren were new born, 12, 24, 36 months old, were detected for further comparison in order to see the difference between the two groups

  13. Application of trans-abdominal chorionic villus sampling in prenatal diagnosis of chromosomal diseases in first trimester of gestation

    Institute of Scientific and Technical Information of China (English)

    Qi Qing-wei; Xiang Yang; Hao Na; Zhou Jing; Lu Ke; Tan Li; Sun Nian-hu

    2008-01-01

    Objective:To evaluate the feasibility and safety of prenatal diagnosis by traneabdominal chorionic villus sam-pling(TA-CVS)via the guidance of B-mode ultrasound in the first trimester of gestation.To explore the technique of long time culture and chromosome preparation of villi in early pregnancy.To evaluate the feasibility of the above techniques in the application of the prenatal cytogenetic diagnosis.Methods:One hundred and thirty-five singleton pregnancies at risk were referred from January 2001 to Decem-ber 2007.Results:The average maternal age was 35.2 years.TA-CVS was performed in the 10~13th weeks of gestation and the average gestational age was 10.89 weeks.All attempts at sampling were successful.The rate of operation-associated fetal loss was 0.74%.The failure rate of prenatal diagnosis because of inadequate amount of specimen was 0.The average culture time was 5-7 days.The success rate of the cell culture was 98.5%.No maternal con-temination and bacterial contamination happened.Fifteen cases of abnormal karyotype and one case of confined pla-cantel mosaiciem were diagnosed.Conclusion:TA-CVS appears to be safe and feasible and might to be offered in the prenatal diagnosis in the first trimester of gestation.The technique of long time culture and chromosome preparation of villi is stable and reliable.It is feasible to apply these techniques in the clinical practice of prenatal cytogenetic diagnose in the early pregnancy.

  14. Karyotype analysis of amniotic fluid cells and comparison of chromosomal abnormality rate during second trimester%孕中期羊水细胞染色体核型分析及其异常核型发生率的比较

    Institute of Scientific and Technical Information of China (English)

    张月萍; 伍俊萍; 李笑天; 雷彩霞; 徐建忠; 殷民

    2011-01-01

    ,占全部异常核型的35.6%( 138/388),其次为常染色体平衡性结构重排为20.6% (80/388)、嵌合体为12.4% (48/388)、18三体为11.3% (44/388),其他较常见的异常核型包括常染色体非平衡性结构重排和45,X0,各为4.1%(16/388),47,XXY为3.9%(15/388)。(3)父母淋巴细胞核型分析:153个胎儿进行了其父母淋巴细胞的核型分析,并最终确定了胎儿异常核型来源:家族性异常58个,新发生的异常95个。78个胎儿的荧光原位杂交技术诊断结果与G显带核型全部一致,其中2个为21三体。结论不同检查指征孕妇的胎儿异常核型的构成不同;孕中期胎儿异常核型种类繁多,致畸风险与异常核型种类有关。%Objective To investigate the karyotypes of amiotic fluid cells and compare the incidence of chromosomal abnormality as well as to evaluate the clinical significance of abnormal karyotypes. Methods A total of 13 648 pregnant women came to Shanghai Jiai Genetics and IVF Institute, Obstetrics and Gynecology Hospital, Fuclan University to do amniocentesis from September 1998 to November 2010, and 13 795 amniotic fluid specimens were successfully extracted and cultured, thus 13 795 fetuses received karyotype diagnosis. These fetuses were grouped according to different indications. If maternal age was ≥ 35, the fetuses were grouped into the advanced maternal age group (4065) ; and if maternal serum screening test revealed high-risk of trisomy 18 or trisomy 21, the fetuses were grouped into the high-risk serum screening group (6462) ; and those with abnormal signs of ultrasound screening were grouped into the abnormal ultrasound signs group (1539); and if either of the parents was with chromosome abnormalities, the fetus was grouped into the paternal/maternal abnormality group ( 108 ) ; whereas the remainder were grouped in other factors group ( 1621 ). The amniotic fluid cells were in-situ cultured on coverslips, harvested by conventional G-banded methods

  15. 糖代谢异常孕妇体质量及相关因素对新生儿出生体质量的影响%Factors relevant to newborn birth weight in pregnancy complicated with abnormal glucose Metabolism

    Institute of Scientific and Technical Information of China (English)

    杨延冬; 翟桂荣; 杨慧霞

    2010-01-01

    Objective To investigate the influencing factors of neonatal birth body mass in women with abnormal glucose metabolism during pregnancy. Methods A study was conducted on 1157 singleton gravidas, who were diagnosed and treated for abnormal glucose metabolism and delivered in the Department of Obstetrics and Gynecology, First Hospital, Peking University from January 2005 to December 2009, by reviewing the medical records. Based on the pre-pregnant body mass index, the selected cases were divided into 4 groups: low body mass group [ body mass index (BMI) < 18.5 kg/m2, n =53], ideal body mass group ( BMI 18.5 - 23.9 kg/m2, n = 647 ), over body mass group ( BMI 24.0 - 27.9 kg/m2, n = 323 ),and obese group (BMI≥28.0 kg/m2, n = 134). 1157 newborns were divided by birth body mass into 3 groups: normal birth body mass group (body mass 2500 -4000 g, n =987), of which 545 cases of birth body mass 3000 -3500 g for the appropriate newborns, macrosomia group (body mass≥4000 g, n = 112);low birth body mass group (body mass < 2500 g, n = 58 ). The following information was collected,including pre-pregnancy body mass, height, gestational age of diagnosis and body mass gain after diagnosis,maternal serum level of cholesterol, history of adverse pregnancy, and family history of diabetes, gestational age, delivering body mass, neonatal birth body mass. The influence of pre-pregnant BMI, body mass gain during pregnancy, gestational age of diagnosis, body mass gain after diagnosis, maternal serum level of cholesterol, family history of diabetes on the newborns' birth body mass was analyzed. The appropriate ranges of gestational body mass gain were calculated in women with abnormal glucose metabolism. Results ( 1 )The average neonatal birth body mass for each group respectively were (3142 ±333) g for low body mass group, (3339 ±476) g for the ideal body mass group, (3381 ±581) g for over body mass group, and (3368 ± 644) g for obese group. The neonatal birth body mass was

  16. Mercury and Pregnancy

    Science.gov (United States)

    ... Home > Pregnancy > Is it safe? > Mercury and pregnancy Mercury and pregnancy E-mail to a friend Please ... vision problems. How can you be exposed to mercury? Mercury has several forms: It can be a ...

  17. Pregnancy and Fifth Disease

    Science.gov (United States)

    ... during the first half of pregnancy. Testing for Parvovirus B19 during Pregnancy A blood test for parvovirus B19 ... infected, or have had a recent infection. Monitoring Parvovirus B19 Infection during Pregnancy If you are pregnant, you ...

  18. Pregnancy and Thyroid Disease

    Science.gov (United States)

    ... Disease Organizations (PDF, 269 KB). Alternate Language URL Pregnancy and Thyroid Disease Page Content On this page: ... responds by decreasing TSH production. [ Top ] How does pregnancy normally affect thyroid function? Two pregnancy-related hormones— ...

  19. Tests Related to Pregnancy

    Science.gov (United States)

    ... to learn. Search form Search Tests related to pregnancy You are here Home Testing & Services Testing for ... to Genetic Counseling . What Are Tests Related to Pregnancy? Pregnancy related testing is done before or during ...

  20. Pregnancy and IBD

    Science.gov (United States)

    ... Center Home > Resources > Pregnancy and IBD Go Back Pregnancy and IBD Email Print + Share If you have ... on the developing fetus or newborn. EFFECT OF PREGNANCY ON WOMEN WITH IBD Women should be well ...

  1. Exercise during Pregnancy

    Medline Plus

    Full Text Available ... premature birth Zika virus and pregnancy Microcephaly Medicine safety and pregnancy Birth defects prevention Learn how to ... your baby Common illnesses New parents Family health & safety Complications & Loss Pregnancy complications Preterm labor & premature birth ...

  2. Alcohol and Pregnancy

    Medline Plus

    Full Text Available ... premature birth Zika virus and pregnancy Microcephaly Medicine safety and pregnancy Birth defects prevention Learn how to ... your baby Common illnesses New parents Family health & safety Complications & Loss Pregnancy complications Preterm labor & premature birth ...

  3. Pregnancy test via milk

    NARCIS (Netherlands)

    Siemes, H.; Woelders, H.

    2011-01-01

    Determining a pregnancy through the milk. Wageningen University is researching the possibilities. The first steps have been taken. Researchers have identified five milk proteins that release a signal of a pregnancy. A pregnancy test via the milk comes within sight.

  4. Exercise during Pregnancy

    Science.gov (United States)

    ... high blood pressure Severe anemia What are the benefits of exercise during pregnancy? Regular exercise during pregnancy benefits you ... weeks after childbirth. In addition to these health benefits, exercise after pregnancy can help you lose the extra ...

  5. Cystic Fibrosis and Pregnancy

    Science.gov (United States)

    ... Complications & Loss > Pregnancy complications > Cystic fibrosis and pregnancy Cystic fibrosis and pregnancy E-mail to a friend Please ... this page It's been added to your dashboard . Cystic fibrosis (CF) is a condition that affects breathing and ...

  6. Rheumatic diseases during pregnancy

    OpenAIRE

    Yavuz, Rahman

    2013-01-01

    Pregnancy induces immunologic changes that may differentially impact rheumatic disorders. The effects of pregnancy on rheumatic diseases vary by condition. The systemic rheumatic illnesses commonly complicating pregnancy are systemic lupus erythematosus (SLE), antiphospholipid syndrome (APS), rheumatoid arthritis (RA), scleroderma.

  7. Sex chromosome aneuploidy in cytogenetic findings of referral patients from south of Iran

    Directory of Open Access Journals (Sweden)

    Najmeh Jouyan

    2012-01-01

    Full Text Available Background: Chromosome abnormality (CA including Sex chromosomes abnormality (SCAs is one of the most important causes of disordered sexual development and infertility. SCAs formed by numerical or structural alteration in X and Y chromosomes, are the most frequently CA encountered at both prenatal diagnosis and at birth. Objective: This study describes cytogenetic findings of cases suspected with CA referred for cytogenetic study. Materials and Methods: Blood samples of 4151 patients referred for cytogenetic analysis were cultured for chromosome preparation. Karyotypes were prepared for all samples and G-Banded chromosomes were analyzed using x100 objective lens. Sex chromosome aneuploidy cases were analyzed and categorized in two groups of Turners and Klinefelter’s syndrome (KFS. Results: Out of 230 (5.54% cases with chromosomally abnormal karyotype, 122 (30% cases suspected of sexual disorder showed SCA including 46% Turner’s syndrome, 46% KFS and the remaining other sex chromosome abnormalities. The frequency of classic and mosaic form of Turner’s syndrome was 33% and 67%, this was 55% and 45% for KFS, respectively. Conclusion: This study shows a relatively high sex chromosome abnormality in this region and provides cytogenetic data to assist clinicians and genetic counselors to determine the priority of requesting cytogenetic study. Differences between results from various reports can be due to different genetic background or ethnicity.

  8. The use of a novel combination of diagnostic molecular and cytogenetic approaches in horses with sexual karyotype abnormalities: a rare case with an abnormal cellular chimerism.

    Science.gov (United States)

    Demyda-Peyrás, S; Anaya, G; Bugno-Poniewierska, M; Pawlina, K; Membrillo, A; Valera, M; Moreno-Millán, M

    2014-05-01

    Sex chromosome aberrations are known to cause congenital abnormalities and unexplained infertility in horses. Most of these anomalies remain undiagnosed because of the complexity of the horse karyotype and the lack of specialized laboratories that can perform such diagnoses. On the other hand, the utilization of microsatellite markers is a technique widely spread in horse breeding, mostly because of their usage in parentage tests. We studied the usage of a novel combination of diagnostic approaches in the evaluation of a very uncommon case of chromosomal abnormalities in a Spanish purebred colt, primarily detected using a commercial panel of short tandem repeat (STR) makers. Based on these results, we performed a full cytogenetic analysis using conventional and fluorescent in situ hybridization techniques with individual Equus caballus chromosome X and Equus caballus chromosome Y painting probes. We also tested the presence of two genes associated with the sexual development in horses and an extra novel panel of eight microsatellite markers specifically located in the sex chromosome pair. This is the first case report of a leukocyte chimerism between chromosomally normal (64,XY) and abnormal (63,X0) cell lines in horses. Our results indicate that the use of the short tandem repeat markers as a screening technique and as a confirmation utilizing cytogenetic techniques can be used as a very interesting, easy, and nonexpensive diagnostic approach to detect chromosomal abnormalities in the domestic horse.

  9. Narcolepsy and pregnancy

    DEFF Research Database (Denmark)

    Maurovich-Horvat, Eszter; Kemlink, David; Högl, Birgit;

    2013-01-01

    In a retrospective cohort study undertaken in 12 European countries, 249 female narcoleptic patients with cataplexy (n = 216) and without cataplexy (n = 33) completed a self-administrated questionnaire regarding pregnancy and childbirth. The cohort was divided further into patients whose symptoms...... of narcolepsy started before or during pregnancy (308 pregnancies) and those in whom the first symptoms of narcolepsy appeared after delivery (106 pregnancies). Patients with narcolepsy during pregnancy were older during their first pregnancy (P ...

  10. Lupus Activity in Pregnancy

    OpenAIRE

    Clowse, Megan E. B.

    2007-01-01

    Pregnancy in a woman with Systemic Lupus Erythematosus (SLE) can be complicated by both lupus activity and pregnancy mishaps. The majority of recent studies demonstrate an increase in lupus activity during pregnancy, perhaps exacerbated by hormonal shifts required to maintain pregnancy. Increased lupus activity, in turn, prompts an elevated risk for poor pregnancy outcomes, including stillbirth, preterm birth, low birth weight, and preeclamspsia. Fortunately, the majority of pregnancies in wo...

  11. Genetic abnormality predicts benefit for a rare brain tumor

    Science.gov (United States)

    A clinical trial has shown that addition of chemotherapy to radiation therapy leads to a near doubling of median survival time in patients with a form of brain tumor (oligodendroglioma) that carries a chromosomal abnormality called the 1p19q co-deletion.

  12. Oral abnormalities in the Ellis-van Creveld syndrome

    Directory of Open Access Journals (Sweden)

    Babaji Prashant

    2010-01-01

    Full Text Available Ellis-van Creveld (EvC syndrome is an autosomal recessive disorder, mainly affecting the ectodermal components such as, enamel, nail, and hair. The gene for EvC syndrome is located on chromosome 4p16. Patients with EvC syndrome characteristically presents with congenitally missing teeth, abnormal frenal attachment, microdontia, and hexadactyly.

  13. Exercise during Pregnancy

    Medline Plus

    Full Text Available ... Global Map Premature birth report card Careers Archives Health Topics Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Body & lifestyle changes Is ...

  14. Alcohol and Pregnancy

    Medline Plus

    Full Text Available ... Global Map Premature birth report card Careers Archives Health Topics Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Body & lifestyle changes Is ...

  15. Rapid mapping of chromosomal breakpoints: from blood to BAC in 20 days

    OpenAIRE

    Mei Wang; Adolf Baumgartner; Weier, Jingly F.; Johnson Kwan; Chun-Mei Lu; Tomas Escudero; Santiago MunnĂŠ; Weier, Heinz-Ulrich G.

    2009-01-01

    Structural chromosome aberrations and associated segmental or chromosomal aneusomies are major causes of reproductive failure in humans. Despite the fact that carriers of reciprocal balanced translocation often have no other clinical symptoms or disease, impaired chromosome homologue pairing in meiosis and karyokinesis errors lead to over-representation of translocations carriers in the infertile population and in recurrent pregnancy loss patients. At present, clinicians have no means to sele...

  16. Heterotopic pregnancy with molar changes

    Directory of Open Access Journals (Sweden)

    Meena N. Satia

    2016-10-01

    Full Text Available Trophoblastic disease of pregnancy is also called as gestational trophoblastic disease (GTD, a rare group of tumors that involves abnormal proliferation of the trophoblastic cells. GTD is generally benign but sometimes can be malignant due to its marked penetration into and destruction of myometrium as well as its ability to metastasize hence the groups of tumors are referred to as gestational trophoblastic neoplasm (GTN. These are among the rare tumors that can be cured even in the presence of widespread dissemination. Present study is a case of intrauterine partial mole with ectopic pregnancy in the right adnexa with vesicular changes, a rare entity in obstetrics. [Int J Reprod Contracept Obstet Gynecol 2016; 5(10.000: 3630-3633

  17. Chromosomal mosaicism of extraembryonic cells detected by prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Zolotukhina, T.V.; Shilova, N.V. [Institute of Clinical Genetics, Moscow (Russian Federation)

    1995-09-01

    Data on detection of chromosomal mosaicism in amniotic cells and chorionic villi obtained by prenatal cytogenetic diagnosis are presented. The frequency of chromosomal mosaicism in preparations of amniotic fluid cell culture was 2.6% (6 out of 226), and that in {open_quotes}direct{close_quotes} villus preparations was 1.6% (13 out of 774). The necessity to perform an additional analysis of other fetal cells or neonatal lymphocytes to specify the diagnosis was shown. The analysis of the outcome of pregnancies during which chromosomal mosaicism in the extraembryonic cells was detected indicates that these women form a high-risk group, both genetically and obstetrically; in only 8 out of 19 cases did pregnancies end in normal deliveries at term; in three cases, spontaneous abortions occurred at 16-31 weeks of gestation; in three cases, the pregnancies were terminated due to fetal chromosomal aberrations in nonmosaic form; the outcome of pregnancy in five cases was preterm delivery of an underweight newborn. 26 refs., 1 tab.

  18. 单核苷酸多态性芯片与染色体核型分析在唐氏筛查高风险孕妇产前诊断中的比较研究%Comparison between single nucleotide polymorphism array and karyoty-ping in prenatal diagnosis in Down’ s screening abnormal pregnancy

    Institute of Scientific and Technical Information of China (English)

    白小艺; 章钧; 田琪; 林俊伟; 侯红瑛

    2015-01-01

    [ ABSTRACT] AIM:To evaluate the clinical application of single nucleotide polymorphism array ( SNP array) in prenatal diagnosis for screening the abnormality of women with Down’ s syndrome ( DS) .METHODS:The amniotic fluid samples ( n=312) collected by amniocentesis for the DS screening abnormality women were tested by karyotyping and SNP array analysis, respectively.The findings of karyotyping and SNP array analysis were compared.RESULTS:Two cases of trisomy 21 were identified by karyotyping and SNP array analysis, but SNP array analysis failed to identify 6 cases of chro-mosome balanced structural rearrangement.SNP detected 176 cases copy number variants ( CNVs) in 303 cases normal karyotype were detected by SNP, including 106 benign CNVs, 61 variants of unknown significance (VOUS), 9 de novo CNVs, and none of them was pathogenic.The distribution difference of CNVs in DS screening positive group and DS screening positive plus advanced maternal age group was not statistically significant ( P>0.05) .Furthermore, we reported 14 kinds of CNVs for the first time in population.CONCLUSION:SNP array can further assure chromosome microdupli-cation/microdeletion.In normal karyotype fetus of prenatal diagnosis, SNP can detect some clinical significant CNVs.%目的:探讨单核苷酸多态性芯片( SNP array)在唐氏筛查高风险孕妇胎儿染色体分析中的应用价值。方法:选取312例因唐氏筛查高风险的孕妇,行羊膜腔穿刺术后获得羊水,对羊水进行G显带核型分析和SNP array检测,比较核型分析与SNP array检测结果,并按年龄分组比较拷贝数变异( CNVs)的发生率差别。结果:核型分析和SNP array均准确发现2例21三体(0.64%),6例核型分析提示染色体平衡重组(1.92%)的样本经SNP array分析证实不存在重排片段重复或缺失。在303例核型正常的胎儿羊水细胞中, SNP array检测发现176例CNVs,其中良性CNVs 106例,

  19. Human Sperm Chromosome Analysis—Study on Human Sperm Chromosome Mutagenesis Induced by Carbon Disulfide

    Institute of Scientific and Technical Information of China (English)

    LEJUN-YI; FUXIAO-MIN

    1996-01-01

    The aim of this study was to investigate the effect CS2 of on human sperm chromosomal aberration.The human sperm/hamster egg fusion techniquse was used to analyze 203 human sperm chromosome complement form 9 healthy volunteers.The incidence of numerical aberration was 1.0%,and that of structural chromosome aberration was 5.9% and total abnormalities was 6.9%.Structural aberrations consisted of breaks,deletions, centric rings,fragments,and chromatid exchange.The results from high concentration group(10μmol·L-1 CS2)showed that the incidence of chromosomal aberration rate was significantly higher than that of the control group.The results indicate that high concentration of CS2 might directly cause mutatenesis f the germ cell.

  20. Small Supernumerary Marker Chromosomes in Human Infertility.

    Science.gov (United States)

    Armanet, Narjes; Tosca, Lucie; Brisset, Sophie; Liehr, Thomas; Tachdjian, Gérard

    2015-01-01

    Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes that cannot be unambiguously identified by banding cytogenetics. The objective of this study was to provide an overview of sSMC frequency and characterization in a context of infertility and to review the literature describing sSMC in relation with male and female infertility. Therefore, a systematic literature review on sSMC associated with infertility was conducted by means of a PubMed literature and a sSMC database (http://ssmc-tl.com/sSMC.html) search. A total of 234 patients with infertility were identified as carriers of sSMC. All chromosomes, except chromosomes 10, 19 and the X, were involved in sSMC, and in 72% the sSMC originated from acrocentric chromosomes. Euchromatic imbalances were caused by the presence of sSMC in 30% of the cases. Putative genes have been identified in only 1.2% of sSMC associated with infertility. The implication of sSMC in infertility could be due to a partial trisomy of some genes but also to mechanical effects perturbing meiosis. Further precise molecular and interphase-architecture studies on sSMC are needed in the future to characterize the relationship between this chromosomal anomaly and human infertility.