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Sample records for prenatal cytogenetic diagnoses

  1. Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester

    DEFF Research Database (Denmark)

    Therkelsen, A J; Jensen, P K; Hertz, Jens Michael

    1988-01-01

    First trimester prenatal cytogenetic diagnosis was attempted in 350 pregnancies after transabdominal chorionic villus sampling. The cytogenetic investigation was performed using both a short-term method (24 h incubation) and cell culture. Adequate samples were obtained in 99.1 per cent and in all...... of 181 cases where the 24 h incubation revealed a male karyotype. Studies of culture morphology showed that colonies of convoluted cells may serve as a marker for contamination with maternal cells in culture. For the present, we recommend using a short-term method as well as cell culture for cytogenetic...

  2. Causes and outcome of prenatally diagnosed hydronephrosis

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    Ahmadzadeh Ali

    2009-01-01

    Full Text Available Hydronephrosis is the most common abnormal finding in the urinary tract on prenatal screening with ultrasonography (U/S. Hydronephrosis may be obstructive or non-obstructive; obstructive lesions are more harmful to the developing kidneys. The aim of the study was to evaluate the causes of renal pelvic dilatation and the outcome of postnatal treatment in infants with hydronephrosis diagnosed prenatally with U/S. We prospectively studied 67 (60 males newborns with hydronephrosis diagnosed prenatally and confirmed postnatally with U/S from Sept. 2005 to Oct. 2007. The patients were allocated to three groups based on the mea-surement of the anteroposterior renal pelvic diameter (APRPD in transverse plane: mild (6-9.9 mm, moderate (10-14.9 mm and severe (> 15 mm hydronephrosis. Voiding cystourethrography (VCUG was obtained in all of the patients to rule out vesicoureteral reflux (VUR. In cases with negative VUR, Diethylenetriamine-pentaacetic acid (DTPA scan with diuretic renography was performed to detect ureteropelvic joint obstruction (UPJO. Twenty two cases (32.8% had mild, 20 (29.9% had moderate, and 25 (37.3% had severe hydronephrosis. The causes of hydroneph-rosis were VUR (40.2%, UPJO (32.8%, posterior urethral valves (PUVs (13.4 %, and transient hydronephrosis (13.4 %. The lesion was obstructive in 37 (55.2% infants. Totally, 33 (49.2% patients with hydronephrosis (9 mild, 9 moderate, and 15 severe subsequently developed com-plications such as UTI and renal insufficiency, or required surgery. Associated abnormalities were observed in 15 (22.4% patients. We conclude that every newborn with any degree of hydro-nephrosis should be assessed postnatally for specific diagnosis and treatment.

  3. Causes and outcome of prenatally diagnosed hydronephrosis

    International Nuclear Information System (INIS)

    Ahmadzadeh, Ali; Tahmasebi, Morteza; Gharibvand, Mohammad Momen

    2009-01-01

    Hydronephrosis is the most common abnormal finding in the urinary tract on prenatal screening with ultrasonography (U/S). Hydronephrosis may be obstructive or nonobstructive; obstructive lesions are more harmful to the developing kidneys. The aim of the study was to evaluate the causes of renal pelvic dilatation and the outcome of postnatal treatment in infants with hydronephrosis diagnosed prenatally with U/S. We prospectively studied 67 (60 males) newborns with hydronephrosis diagnosed prenatally and confirmed postnatally with U/S from Sept. 2005 to Oct. 2007. The patients were allocated to three groups based on the mea-surement of the anteroposterior renal pelvic diameter (APRPD) in transverse plane: mild (6-9.9 mm), moderate (10-14.9 mm) and severe (> 15 mm) hydronephrosis. Voiding cystourethrography (VCUG) was obtained in all of the patients to rule out vesicoureteral reflux (VUR). In cases with negative VUR, Diethylenetriamine-pentaacetic acid (DTPA) scan with diuretic renography was performed to detect ureteropelvic joint obstruction (UPJO). Twenty two cases (32.8%) had mild, 20 (29.9%) had moderate, and 25 (37.3%) had severe hydronephrosis. The causes of hydronephrosis were VUR (40.2%), UPJO (32.8%), posterior urethral valves (PUVs) (13.4 %), and transient hydronephrosis (13.4 %). The lesion was obstructive in 37 (55.2%) infants. Totally, 33 (49.2%) patients with hydronephrosis (9 mild, 9 moderate, and 15 severe) subsequently developed complications such as UTI and renal insufficiency, or required surgery. Associated abnormalities were observed in 15 (22.4%) patients. We conclude that every newborn with any degree of hydronephrosis should be assessed postnatally for specific diagnosis and treatment. (author)

  4. Rapid prenatal diagnosis of cytogenetic abnormalities by array CGH analysis

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    Array CGH analysis has been shown to be highly accurate for rapid detection of chromosomal aneuploidies and submicroscopic deletions or duplications on fetal DNA samples in a clinical prenatal diagnostic setting. The objective of this study is to present our "post-validation phase" experience with ...

  5. Follow-up of prenatally diagnosed unilateral hydronephrosis

    DEFF Research Database (Denmark)

    Thorup, Jørgen Mogens; Lenz, K; Rabol, A

    1996-01-01

    Based on previous experience with prenatally diagnosed unilateral hydronephrosis, we found that the primary indications for surgical intervention should be symptoms or functional impairment of the hydronephrotic kidney. Nonoperative management of neonates without symptoms and with normal function...... of the affected kidney was proposed. However, the strategy of treatment after prenatally diagnosed hydronephrosis is still controversial. We studied 28 consecutive children with suspected unilateral pelviureteral junction obstruction and a normal contralateral kidney. The overall follow-up period varied between 2...

  6. Female pseudohermaphroditism in a prenatally diagnosed cloacal malformation with hydronephrosis, dilated bladder, hydrometrocolpos, and oligohydramnios

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    Chih-Ping Chen

    2013-12-01

    Conclusion: Prenatal diagnosis of cloacal malformation with ambiguous genitalia should be paid attention to avoid misdiagnosis of a male with an imperforate anus and a perineal fistula. Cytogenetic analysis is helpful to determine the sex under such circumstances.

  7. Postnatal outcomes of prenatally diagnosed 45,X/46,XX.

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    Tokita, Mari J; Sybert, Virginia P

    2016-05-01

    High quality information is critical for informed decision-making in pregnancy following a prenatal diagnosis of sex chromosome aneuploidy. The goal of this study was to define the spectrum of outcomes in patients with prenatally diagnosed 45,X/46,XX mosaic Turner syndrome in order to provide a better basis for genetic counseling at the time of intrauterine diagnosis. Phenotype data for twenty-five patients with prenatally diagnosed 45,X/46,XX mosaicism were collected by retrospective chart review and, when possible, semi-structured telephone interview. Existing data from a cohort of 58 patients with postnatally diagnosed 45,X/46,XX mosaicism were used for comparison. Relative to those diagnosed postnatally, prenatal patients were more likely to have normal growth and normal secondary sexual development, less likely to manifest distinctive Turner syndrome features such as nuchal webbing and edema, and had significantly fewer renal defects. These differences underscore the need for a nuanced approach to prenatal counseling in cases of 45,X/46,XX mosaicism. © 2016 Wiley Periodicals, Inc.

  8. Pallister–Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis

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    Francesco Libotte

    2016-12-01

    Conclusion: New molecular cytogenetic techniques array comparative genomic hybridization and fluorescence in-situ hybridization in association with conventional karyotype are pivotal innovative tools to search for chromosomic anomalies and for a complete prenatal diagnosis, especially in cases such as PKS where array comparative genomic hybridization analysis alone could not show mosaicism of i(12p.

  9. Postnatal monitoring of prenatal diagnosed hydro nephrosis

    International Nuclear Information System (INIS)

    Bueva, A.; Stefanov, S.; Palashev, Y.

    2011-01-01

    Ultrasound has revolutionized pediatric nephrology in the last decades and has a major impact on management and treatment of several children's kidneys diseases. Hydronephrosis is the most common anomaly in childhood. Progress in fetal imaging in the last years has a important impact in diagnosing congenital hydronephrosis. The current study try to establish authors opinion on problem over coming in the every day practice in pediatric nephrologist - is surgery mandatory in high grade pediatric hydronephrosis. A discussion is undergoing in the literature, following communications that high grade hydronephrosis tend spontaneously to regress in more that 65% according to Koff (2000, 2008)

  10. National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in 1973–2016 in Denmark

    DEFF Research Database (Denmark)

    Lou, Stina; Petersen, Olav B.; Jørgensen, Finn Stener

    2018-01-01

    INTRODUCTION: Denmark was the first country in the world to implement a national, free-for-all offer of prenatal screening for Down syndrome to all pregnant women. It has a high uptake (> 90%) compared to other countries. Thus, Denmark offers an interesting case for investigating the consequences...... of implementing a comprehensive, national prenatal screening guideline. The aim of this study was to describe the historical developments in invasive procedures, pre-/postnatal diagnoses of Down syndrome and Down syndrome live births in the period 1973-2016 in Denmark MATERIAL AND METHODS: Data on invasive...... procedures, pre- and postnatal Down syndrome diagnoses were retrieved from the Danish Cytogenetic Central Registry RESULTS: From 1973-1993 screening based on maternal age and high-risk indications resulted in a constant increase in invasive procedures. After the introduction of the triple test in 1994...

  11. Prenatal cytogenetic diagnosis in Spain: analysis and evaluation of the results obtained from amniotic fluid samples during the last decade.

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    Mademont-Soler, Irene; Morales, Carme; Clusellas, Núria; Soler, Anna; Sánchez, Aurora

    2011-08-01

    Chromosome abnormalities are one of the main causes of congenital defects, and establishing their frequency according to the different clinical indications for invasive procedure during pregnancy is especially important for genetic counselling. We analyzed the results of 29,883 amniotic fluid samples referred to our laboratory for cytogenetic studies from 1998 to 2009, which constitutes the largest series of cytogenetic analysis performed on amniotic fluid samples in Spain. The number of samples received tended to increase from 1998 to 2005, but after 2005 it decreased substantially. Cytogenetic results were obtained in 99.5% of the samples, and the detected incidence of chromosome abnormalities was 2.9%. Of these, 48.1% consisted of classical autosomal aneuploidies, trisomy 21 being the most frequent one. The main clinical indications for amniocentesis were positive prenatal screening and advanced maternal age, but referral reasons with highest positive predictive values were, excluding parental chromosome rearrangement, increased nuchal translucency (9.2%) and ultrasound abnormalities (6.6%). In conclusion, performing the karyotype on amniotic fluid samples is a good method for the detection of chromosome abnormalities during pregnancy. The number of cytogenetic studies on amniotic fluid has now decreased, however, due to the implementation of first trimester prenatal screening for the detection of Down syndrome, which allows karyotyping on chorionic villus samples. Our results also show that both ultrasound abnormalities and increased nuchal translucency are excellent clinical indicators for fetal chromosome abnormality. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  12. Characteristics and outcome and the omphalocele circumference/abdominal circumference ratio in prenatally diagnosed fetal omphalocele

    NARCIS (Netherlands)

    Kleinrouweler, C. E.; Kuijper, C. F.; van Zalen-Sprock, M. M.; Mathijssen, I. B.; Bilardo, C. M.; Pajkrt, E.

    2011-01-01

    To evaluate the outcome of fetuses with prenatally diagnosed omphalocele and to investigate the predictive value of the omphalocele circumference/abdominal circumference (OC/AC) ratio - a measure for the relative size of the omphalocele. This study includes all fetuses prenatally diagnosed with

  13. Prenatal Diagnosis

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    Ozge Ozalp Yuregir

    2012-02-01

    Full Text Available Prenatal diagnosis is the process of determining the health or disease status of the fetus or embryo before birth. The purpose is early detection of diseases and early intervention when required. Prenatal genetic tests comprise of cytogenetic (chromosome assessment and molecular (DNA mutation analysis tests. Prenatal testing enables the early diagnosis of many diseases in risky pregnancies. Furthermore, in the event of a disease, diagnosing prenatally will facilitate the planning of necessary precautions and treatments, both before and after birth. Upon prenatal diagnosis of some diseases, termination of the pregnancy could be possible according to the family's wishes and within the legal frameworks. [Archives Medical Review Journal 2012; 21(1.000: 80-94

  14. Prenatal BoBs TM in the cytogenetic analysis of products of ...

    African Journals Online (AJOL)

    Background. Fifty percent of spontaneous miscarriages (SMs) are attributed to chromosomal abnormalities. Cytogenetic analysis is an important tool for patient counselling and assessment of the risk of recurrence in future pregnancies. Conventional karyotyping has been the gold standard for chromosomal investigation of ...

  15. Prenatal diagnosis and molecular cytogenetic characterization of a de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14).

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    Chen, Chih-Ping; Lee, Meng-Ju; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Chen, Yu-Ting; Lee, Meng-Shan; Wang, Wayseen

    2013-10-25

    We present prenatal diagnosis of de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14) and molecular cytogenetic characterization of the deletion using uncultured amniocytes. We review the phenotypic abnormalities of previously reported patients with similar proximal interstitial 4p deletions, and we discuss the functions of the genes of RBPJ, CCKAR, STIM2, PCDH7 and ARAP2 that are deleted within this region. © 2013.

  16. FORECASTING OF SURVIVAL OF CHILDREN WITH THE PRENATALLY DIAGNOSED PATHOLOGY OF THE CARDIOVASCULAR SYSTEM

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    Анна Валериевна Дубовая

    2018-05-01

    Full Text Available The development of effective methods for the analysis and prognosis of the survival of newborns with prenatally diagnosed congenital malformations of the cardiovascular system are the urgent task of modern medicine. Objective – a neural network model for predicting the survival of children with prenatally diagnosed congenital malformations of the cardiovascular system was developed. Materials and methods. To create the artificial neural networks, the method of constructing multifactor mathematical prediction models in the software package Statistica 6.0 was used. The significance level of the factors influencing the survival of children with prenatally diagnosed congenital malformations of the cardiovascular system was determined using Wald statistics. When checking statistical hypotheses, the critical level of significance was assumed to be 0,05. Results. A neural network model for the determination of the probability of survival of a child with prenatally diagnosed congenital malformations of the cardiovascular system, which has a high prognostic ability of 0,88, sensitivity of the model was 77,6 %, specificity 86,4 %. The value of prognostic survival probability is in the range from 0 to 100 %. With an indicator value of more than 80 %, the probability of survival of a child with prenatally diagnosed congenital malformations of the cardiovascular system is estimated as high, ranging from 20 % to 80 % – as an average and less than 20 % – as low. Conclusion. In the algorithm for predicting the survival of children with prenatally diagnosed congenital malformations of the cardiovascular system it is necessary to include a combination with other pathology of cardiovascular system, with other organs and systems, with chromosomal abnormalities, with microdeletion and monogenic syndromes.

  17. Prenatal Diagnoses with Cordocentesis: Evaluation of 172 Cases

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    Mahmut Erdemoğlu

    2007-01-01

    Full Text Available The aim of this study was to evaluate the results of 172 cordosentesis cases for chromosomal analysis in high risk pregnant patients which were performed in our clinic during 2001 and 2004. Cordosentesis procedure were performed mainly for, fetal anomaly, positive triplescreening test. Fetal chromosomal anomaly ratio was 7.5%. Trisomi 21,18,13 were found in fetal anomaly group. The invasive procedure success rate was %98.8. Cordosentes is a safe and easily performed prenatal diagnosis and treatment method in modern perinatology.

  18. A prenatally diagnosed pentalogy of cantrell case with encephalocele: A rare variant

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    Melih Atahan Güven

    2009-06-01

    Full Text Available AIM: The aim of this study is to present a prenatally diagnosed and postnatally confirmed Pentalogy of Cantrell case also with neural tube defect. CASE: Characteristic features of Cantrell Pentalogy are omphalocele due to the defect of anterior diaphragm and lower sternum, absence of pericardium and cardiac anomaly. We are presenting here a case with encephalocele and omphalocele containing the heart with atrioventricular septal defect detected during prenatal ultrasonography. There is no consanguinity and history of drug usage or toxin exposure during pregnancy. As these malformations cause a very low chance of survival, pregnancy was terminated after an informed consent. Postmortem genetic evaluation of the fetus confirmed the prenatal findings. CONCLUSION: It is easy to diagnose omphalocele during pregnancy but if it associates with heart anomalies, Cantrell Pentalogy must be remembered. Encephalocele and other types of neural tube defects very rarely associate with this disorder and there were fewer than 20 cases reported in the literature.

  19. Mild pyelectasis diagnosed by prenatal ultrasound is not a predictor of urinary tract morbidity in childhood

    NARCIS (Netherlands)

    Damen-Elias, Henny A. M.; Luijnenburg, Saskia E.; Visser, Gerard H. A.; Stoutenbeek, Philip H.; de Jong, Tom P. V. M.

    2005-01-01

    To determine whether children with prenatally diagnosed mild pyelectasis have more urinary tract morbidity during childhood than children without this finding. Case-control study in children with pyelectasis (anteroposterior diameter of the fetal renal pelvis of 5-10 mm). A validated questionnaire

  20. A prenatally diagnosed case of sirenomelia with dextrocardia and omphalocele

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    Cavaliere, Alessandro; Dinatale, Angela; Cardinale, Giovanna; Ermito, Santina; La Galia, Tindara; Circosta, Barbara; Imbruglia, Laura; Rapisarda, Giusi

    2009-01-01

    Objective: Sirenomelia (Mermaid syndrome) is a rare anomaly of caudal region of the body, presented with fusion of the lower limbs. Genito-urinary, gastro-intestinal, neural tube and vertebral anomalies are found in most cases. Methods: We present a case of sirenomelia diagnosed in the first tri-mester, associated with dextrocardia, and omphalocele Conclusion: First trimester diagnosis of sirenomielia is possible and early diagnosis gives the parents the option of early pregnancy termination PMID:22439043

  1. A prenatally diagnosed case of sirenomelia with dextrocardia and omphalocele.

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    Cavaliere, Alessandro; Dinatale, Angela; Cardinale, Giovanna; Ermito, Santina; La Galia, Tindara; Circosta, Barbara; Imbruglia, Laura; Rapisarda, Giusi

    2009-07-01

    Sirenomelia (Mermaid syndrome) is a rare anomaly of caudal region of the body, presented with fusion of the lower limbs. Genito-urinary, gastro-intestinal, neural tube and vertebral anomalies are found in most cases. We present a case of sirenomelia diagnosed in the first tri-mester, associated with dextrocardia, and omphalocele First trimester diagnosis of sirenomielia is possible and early diagnosis gives the parents the option of early pregnancy termination.

  2. Chromosomal aneuploidies and copy number variations in posterior fossa abnormalities diagnosed by prenatal ultrasonography.

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    Lei, Ting; Feng, Jie-Ling; Xie, Ying-Jun; Xie, Hong-Ning; Zheng, Ju; Lin, Mei-Fang

    2017-11-01

    To explore the genetic aetiology of fetal posterior fossa abnormalities (PFAs). This study involved cases of PFAs that were identified by prenatal ultrasonographic screening and confirmed postnatally between January 2012 and January 2016. Conventional cytogenetic analyses and chromosomal microarray analysis were performed, and chromosomal aneuploidies and copy number variations (CNVs) were identified. Among 74 cases included in this study, 8 were of Blake's pouch cyst; 7, Dandy-Walker malformation; 11, vermian hypoplasia; 32, enlarged cisterna magna; and 16, cerebellar hypoplasia. The rates of nonbenign chromosomal aberrations (including chromosomal aneuploidies, pathogenic CNVs, and variants of unknown significance) were 2/8 (25.0%), 2/7 (28.5%), 8/11 (72.7%), 7/32 (21.9%), and 6/16 (37.5%), respectively. Cases were also classified as isolated PFAs (30/74), PFAs with other central nervous system (CNS) abnormalities (13/74), or PFAs with extra-CNS structural abnormalities (31/74). No fetuses with isolated PFAs or PFAs accompanied by other CNS abnormalities exhibited chromosomal aneuploidies or pathogenic CNVs. The rate of pathogenic chromosomal aberrations in the remaining fetuses was 17/31 (22.9%). The combined use of chromosomal microarray analysis and karyotype analysis might assist the prenatal diagnosis and management of PFAs, with extra-CNS structural abnormalities being detected by ultrasonography. © 2017 John Wiley & Sons, Ltd.

  3. Infants with prenatally diagnosed kidney anomalies have an increased risk of urinary tract infections

    DEFF Research Database (Denmark)

    Rasmussen, Maria; Sunde, Lone; Andersen, René F

    2017-01-01

    AIM: This study estimated the urinary tract infection (UTI) risk in a nationwide cohort of infants prenatally diagnosed with parenchymal kidney anomalies compared with a comparison cohort. METHODS: A Danish population-based nationwide cohort of foetuses diagnosed with parenchymal kidney anomalies...... between 2007 and 2012 had previously been identified. These were compared with foetuses without kidney anomalies who were prenatally scanned the same year. Live born infants were followed from birth until the diagnosis of UTI, emigration, death or two years of age. Cumulative incidences of UTIs were...... computed. Mortality was estimated using the Kaplan-Meier method. RESULTS: We identified 412 foetuses with parenchymal kidney anomalies out of 362 069 who underwent ultrasound scans and 277 were born alive. The overall risk of a UTI before the age of two years was 19%, and it was 14% among infants without...

  4. A prenatally diagnosed case of sirenomelia with polydactyly and vestigial tail.

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    Guven, M A; Uzel, M; Ceylaner, S; Coskun, A; Ceylaner, G; Gungoren, A

    2008-01-01

    We are presenting a prenatally diagnosed case with sirenomelia, vestigial tail and polydactyly. A 30-year-old woman at 16 weeks of gestation with dichorionic twins was admitted to the hospital. Prenatal ultrasound demonstrated fusion of the lower limbs in one member and normal femurs, tibias and fibulas, and normal vertebras in the second twin, suggesting the diagnosis of sirenomelia. The twins were delivered vaginally at 35 weeks after spontaneous onset of labor. The affected newborn died after 24 hours and postnatal examination revealed unseparated lower limbs with extreme retroversion, bilateral pes equinus, unilateral postaxial polydactyly, a vestigial tail on the sacral region, a large and wide penis and anal atresia. There is only one previous report of sirenomelia with vestigial tail in the literature. However, a large, wide penis and polydactyly have not been reported before in association with this anomaly.

  5. Kidney anomalies diagnosed by prenatal ultrasound screening and associated non-urinary malformations

    DEFF Research Database (Denmark)

    Rasmussen, Maria; Olsen, Morten Smærup; Sunde, Lone

    2016-01-01

    ObjectivesTo estimate the prevalence of kidney anomalies at second trimester ultrasound screening, and furthermore, to investigate pregnancy outcomes and the pattern of additional malformations. MethodsWe previously identified all women attending second-trimester ultrasound scans in Denmark between...... of non-urinary malformations, comparing the prevalences in infants with and without prenatally diagnosed kidney anomalies. ResultsThe prevalence of fetuses with kidney anomalies at second trimester scans was 11.4 per 10000 fetuses. Among the 412 fetuses identified, 127 pregnancies were terminated....... For live born children the prevalence of additional non-urinary malformations was four times higher (95% CI: 3-5) compared with the prevalence among children without prenatal kidney anomalies. Digestive system anomalies were particularly prevalent. ConclusionThese population-based data provide additional...

  6. Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.

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    Gruchy, Nicolas; Blondeel, Eleonore; Le Meur, Nathalie; Joly-Hélas, Géraldine; Chambon, Pascal; Till, Marianne; Herbaux, Martine; Vigouroux-Castera, Adeline; Coussement, Aurélie; Lespinasse, James; Amblard, Florence; Jimenez Pocquet, Mélanie; Lebel-Roy, Camille; Carré-Pigeon, Frédérique; Flori, Elisabeth; Mugneret, Francine; Jaillard, Sylvie; Yardin, Catherine; Harbuz, Radu; Collonge-Rame, Marie-Agnès; Vago, Philippe; Valduga, Mylène; Leporrier, Nathalie; Vialard, François

    2016-06-01

    Sex chromosome aneuploidies are frequently detected fortuitously in a prenatal diagnosis. Most cases of 47, XXX and 47, XYY syndromes are diagnosed in this context, and parents are thus faced with an unexpected situation. The objective of the present study was to characterize a French cohort of prenatally diagnosed cases of 47, XXX and 47, XYY and to evaluate the termination of pregnancy (TOP) rate before and after France's implementation of multidisciplinary centres for prenatal diagnosis in 1997. This retrospective study identified respectively 291 and 175 cases of prenatally diagnosed 47, XXX and 47, XYY between 1976 and 2012. For each case, the indication, maternal age, karyotype and outcome were recorded. Most diagnoses of the two conditions were fortuitous. The occurrence of 47, XXX was associated with advanced maternal age. The overall TOP rate was higher for 47, XXX (22.9%) than for 47, XYY (14.6%), although this difference was not statistically significant. However, the TOP rates fell significantly after 1997 (from 41.1% to 11.8% for 47, XXX and from 25.8% to 6.7% for 47, XYY). The TOP rates after prenatal diagnoses of 47, XXX and 47, XYY fell significantly after 1997, following France's implementation of multidisciplinary centres for prenatal diagnosis. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  7. Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia.

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    Hendrix, Nancy W; Clemens, Michele; Canavan, Timothy P; Surti, Urvashi; Rajkovic, Aleksandar

    2012-01-01

    We describe the first reported case of a prenatally diagnosed and recently described 17q12 microdeletion syndrome. The fetus was noted to have a congenital diaphragmatic hernia (CDH), echogenic kidneys and cystic left lung on prenatal ultrasound. The patient underwent amniocentesis which resulted in a normal fluorescence in-situ hybridization and karyotype. An oligonucleotide microarray was then performed which demonstrated a 1.4-Mb deletion within the 17q12 region. The deletion caused haploinsufficiency for 17 genes, including AATF, ACACA, DDX52, DUSP14, GGNBP2, HNF-1B, LHX1, PIGW, SYNRG, TADA2A, and ZNHIT3. The deleted region on 17q12 is similar in size and gene content to previously reported 17q12 microdeletion syndromes, which have a minimal critical region of 1.52 Mb. The newly described 17q12 microdeletion syndrome has been associated with MODY5 (maturity-onset of diabetes of the young type 5), cystic renal disease, pancreatic atrophy, liver abnormalities, cognitive impairment and structural brain abnormalities. CDH has not been previously described with the 17q12 microdeletion syndrome. We hypothesize that CDH is part of the spectrum of this syndrome and likely not detected postnatally due to high prenatal mortality. Copyright © 2011 S. Karger AG, Basel.

  8. Newborn with Prenatally Diagnosed Choroidal Fissure Cyst and Panhypopituitarism and Review of the Literature

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    Ritu Chitkara

    2011-12-01

    Full Text Available Little has been reported on fetal diagnosis of choroidal fissure cysts and prediction of the clinical complications that can result. We describe the case of a near-term male infant with prenatally diagnosed choroidal fissure cyst and bilateral clubfeet. His prolonged course in the neonatal intensive care nursery was marked by severe panhypopituitarism, late-onset diabetes insipidus, placement of a cystoperitoneal shunt, and episodes of sepsis. Postnatal genetic evaluation also revealed an interstitial deletion involving most of band 10q26.12 and the proximal half of band 10q26.13. The patient had multiple readmissions for medical and surgical indications and died at 6 months of age. This case represents the severe end of the spectrum of medical complications for children with choroidal fissure cysts. It highlights not only the importance of comprehensive evaluation and multidisciplinary management and counseling in such cases, but also the need for heightened vigilance in these patients.

  9. Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature.

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    Jones, Gabriela E; Mousa, Hatem A; Rowley, Helen; Houtman, Peter; Vasudevan, Pradeep C

    2015-12-01

    The objective of this study is to report the prenatal ultrasound scan findings in four fetuses from two families postnatally diagnosed with 17q12 microdeletion syndrome on microarray CGH and review the literature. We report two families presenting with prenatally detected hyperechogenic kidneys. In family 1, the mother had three pregnancies complicated by anhydramnios with bilateral hyperechogenic kidneys, hyperechogenic enlarged cystic kidneys, and bilateral hyperechogenic kidneys with polyhydramnios respectively. In family 2, prenatal ultrasound scans detected hyperechogenic kidneys. A pubmed search for all reported cases of 17q12 deletion between 2005 and 2015 was performed. All publications were reviewed, and findings summarised. Fourteen publications were deemed suitable for literature review; there was a diagnosis of 17q12 deletion with documented prenatal findings in 25 cases. Prenatal renal anomalies were reported in 88% of these cases. Anomalies were documented from 15 weeks, and most common presentation was hyperechogenic, muticystic, or enlarged kidneys. Both oligohydramnios and polyhydramnios were seen. Postnatal renal ultrasound scan findings were of muticystic or multicystic dysplastic kidney. There did not appear to be correlation of prenatal presentation and severity of renal disease. Prenatal testing should be offered to all cases of hyperechogenic kidneys, with unknown cause. © 2015 John Wiley & Sons, Ltd.

  10. Neurodevelopmental outcome in prenatally diagnosed isolated agenesis of the corpus callosum.

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    Folliot-Le Doussal, Lise; Chadie, Alexandra; Brasseur-Daudruy, Marie; Verspyck, Eric; Saugier-Veber, Pascale; Marret, Stéphane

    2018-01-01

    Neurodevelopmental outcome in children with agenesis of the corpus callosum (ACC) is correlated with the presence or absence of associated brain abnormalities. Indeed, neurodevelopmental outcome shows severe disabilities when the ACC is not isolated whereas in isolated forms, the neurologic development is mainly normal. Contrary to data in several published studies, the prognosis remains uncertain even in isolated forms, which may lead in France to medical termination of pregnancy. To evaluate long-term neurodevelopmental outcome in children with prenatally diagnosed isolated ACC. This is a follow-up study conducted in Normandy (France). It included a cohort of 25 children born between January 1991 and June 2016, with a prenatal diagnosis of isolated ACC and who were followed for at least two years. The average follow-up was 8±5years. ACC was complete in 17 patients (68%), partial in 5 (20%) and hypoplastic in 3 (12%). Whereas global motor development was normal in each case, normal neurodevelopmental outcome or mild disabilities occurred in 88% children and moderate/severe neuro-disabilities were present in 12% of children. Wechsler Intelligence Scale for Children-IV evaluations and Intellectual Total Quotients were within normal range, but we observed lower scores in verbal comprehension, social judgment, executive functions. A lower score in morphosyntax was observed among 52% of children with oral language disorders. Neurodevelopmental outcome was favorable in most of our patients with isolated ACC, but mild learning disabilities emerged in older children. Long-term follow-up until school age is essential to provide early diagnosis and appropriate care support. Copyright © 2017 Elsevier B.V. All rights reserved.

  11. [Prenatal cerebrovascular accidents diagnosed in the early infant stage: a series of 10 patients].

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    Pina-Jover, María; Martinez-Del Villar, María; Lillo-Laguna, Lucía; Jadraque-Rodriguez, Rocío; Martinez-Pastor, Pedro; Jover-Cerda, Jenaro; Gomez-Gosalvez, Francisco

    2013-07-01

    INTRODUCTION. A foetal or prenatal cerebrovascular accident (CVA) is defined as an ischaemic, thrombotic or arterial or venous haemorrhagic event that occurs between the 14th week of gestation and the onset of labour. PATIENTS AND METHODS. We report a retrospective study of a series of 10 patients suffering from a, presumably foetal, stroke that went unnoticed during the pregnancy and was diagnosed in the early infant stage. The symptoms and the age at which they were identified are highlighted. RESULTS. None of the 10 patients studied presented any relevant events in the mothers' medical history, but there were four threats of a preterm birth that were solved using the usual means and without the occurrence of any alterations that later affected the foetus. The studies that led to the diagnosis were carried out between the sixth and ninth months of life, and the reason for visiting was reported by the family as being a lower degree of mobility on one side of the body with respect to the other. Two patients presented thrombophilia. With a mean follow-up time of six years, all the patients have an associated infantile cerebral palsy, a third of them have epilepsy and 75% have learning difficulties or intellectual disability. CONCLUSIONS. When CVA are not detected in the prenatal period, it is important in primary care to look for and detect the warning signs of the psychomotor development of the infant at an early stage in order to begin a study of the case and to undertake rehabilitation as early as possible.

  12. Novel Mutation in the TSC2 Gene Associated with Prenatally Diagnosed Cardiac Rhabdomyomas and Cerebral Tuberous Sclerosis

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    Chih-Ping Chen

    2006-01-01

    Full Text Available Cardiac rhabdomyomas are prenatal echocardiographic markers for tuberous sclerosis complex (TSC. TSC is caused by mutations in the genes TSC1 and TSC2. We report a 28-year-old, gravida 5, para 2, woman with an uncomplicated pregnancy until prenatal ultrasound at 34 weeks' gestation revealed fetal cardiac tumors. Ultrafast magnetic resonance imaging (MRI at 36 weeks' gestation showed cardiac rhab-domyomas and small subependymal tubers. At 39 weeks' gestation, a 2262 g female infant was delivered uneventfully. Postnatal echocardiography confirmed cardiac rhabdomyomas and MRI verified small cerebral subependymal tubers. Mutational analysis of TSC1 and TSC2 genes using denaturing high-performance liquid chromatography and direct sequencing of the genes was performed and revealed that the parents had wildtype DNA, while the proband was heterozygous for a novel de novo nonsense mutation, c.4830 G > A, in exon 36 of the TSC2 gene, resulting in a change of codon 1610 TGG (tryptophan to TGA (stop codon. The mutation predicted a W1610X premature termination of the tuberin protein. These findings support an association between a TSC2 de novo nonsense mutation and prenatally detected cardiac rhabdomyomas and cerebral tuberous sclerosis. Familial molecular analysis of TSC1 and TSC2 in cases with prenatally diagnosed cardiac rhabdomyomas and cerebral tuberous sclerosis lesions is helpful in prenatal diagnosis and genetic counseling.

  13. Cytogenetic highlights and transitions.

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    Spinner, Nancy B

    2016-06-01

    Medical cytogenetics, genetic diagnostics, and medical genetics had their origins in the late 1950's, as evaluation of human chromosomes became possible, and it was recognized that chromosomal abnormalities could cause a variety of clinical phenotypes. Dr. Laird Jackson began his medical and scientific career just as this field was emerging and he was an early adopter and driver of several key trends in the development of these fields, notably in the area of prenatal diagnostics. Laird's greatest impact was in his work to demonstrate the clinical utility of amniocentesis, chorionic villous sampling, and chromosomal microarray analysis for prenatal diagnosis. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  14. Prenatal Exposure to the Pesticide DDT and Hypertension Diagnosed in Women before Age 50: A Longitudinal Birth Cohort Study

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    Cirillo, Piera M.; Terry, Mary Beth; Krigbaum, Nickilou Y.; Flom, Julie D.; Cohn, Barbara A.

    2013-01-01

    Background: Elevated levels of the pesticide DDT (dichlorodiphenyltrichloroethane) have been positively associated with blood pressure and hypertension in studies among adults. Accumulating epidemiologic and toxicologic evidence suggests that hypertension during adulthood may also be affected by earlier life and possibly the prenatal environment. Objectives: We assessed whether prenatal exposure to the pesticide DDT increases risk of adult hypertension. Methods: We examined concentrations of DDT (p,p´- and o,p´-) and its metabolite p,p´-DDE (dichlorodiphenyldichloroethylene) in prenatal serum samples from a subset of women (n = 527) who had participated in the prospective Child Health and Development Studies birth cohort in the San Francisco Bay area while they were pregnant between 1959 and 1967. We surveyed daughters 39–47 years of age by telephone interview from 2005 to 2008 to obtain information on self-reported physician-diagnosed hypertension and use of hypertensive medication. We used multivariable regression analysis of time to hypertension based on the Cox proportional hazards model to estimate relative rates for the association between prenatal DDT exposures and hypertension treated with medication in adulthood, with adjustment for potential confounding by maternal, early-life, and adult exposures. Results: Prenatal p,p´-DDT exposure was associated with hypertension [adjusted hazard ratio (aHR) = 3.6; 95% CI: 1.8, 7.2 and aHR = 2.5; 95% CI: 1.2, 5.3 for middle and high tertiles of p,p´-DDT relative to the lowest tertile, respectively]. These associations between p,p´-DDT and hypertension were robust to adjustment for independent hypertension risk factors as well as sensitivity analyses. Conclusions: These findings suggest that the association between DDT exposure and hypertension may have its origins early in development. PMID:23591545

  15. A Case of Fetal Herpes Simplex Encephalitis Diagnosed Prenatally by Ultrasonography in the Third Trimester

    International Nuclear Information System (INIS)

    Lee, Mi Bum; Kim, Yu Ri; Hwang, Han Sung; Park, Yong Won; Kim, Young Han

    2007-01-01

    Almost all reported incidences of herpes simplex virus (HSV) infection in newborns result as a complication of rupture of the amniotic membranes or the delivery of the baby, but infection via the placenta and amniotic membranes is rare. Ventriculomegaly was detected at 36 weeks of gestation by prenatal ultrasonography, and an emergency cesarean section was then performed at 36 weeks of gestation. We report a case of herpes simplex encephalitis detected at 36 weeks of gestation by prenatal ultrasonography, which was confirmed by a postnatal serologic test and CSF test with a brief review of literature

  16. A Case of Fetal Herpes Simplex Encephalitis Diagnosed Prenatally by Ultrasonography in the Third Trimester

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    Lee, Mi Bum; Kim, Yu Ri; Hwang, Han Sung; Park, Yong Won; Kim, Young Han [Yonsei University College of Medicine, Seoul (Korea, Republic of)

    2007-12-15

    Almost all reported incidences of herpes simplex virus (HSV) infection in newborns result as a complication of rupture of the amniotic membranes or the delivery of the baby, but infection via the placenta and amniotic membranes is rare. Ventriculomegaly was detected at 36 weeks of gestation by prenatal ultrasonography, and an emergency cesarean section was then performed at 36 weeks of gestation. We report a case of herpes simplex encephalitis detected at 36 weeks of gestation by prenatal ultrasonography, which was confirmed by a postnatal serologic test and CSF test with a brief review of literature

  17. A case report of Fanconi anemia diagnosed by genetic testing followed by prenatal diagnosis.

    Science.gov (United States)

    Lee, Hwa Jeen; Park, Seungman; Kang, Hyoung Jin; Jun, Jong Kwan; Lee, Jung Ae; Lee, Dong Soon; Park, Sung Sup; Seong, Moon-Woo

    2012-09-01

    Fanconi anemia (FA) is a rare genetic disorder affecting multiple body systems. Genetic testing, including prenatal testing, is a prerequisite for the diagnosis of many clinical conditions. However, genetic testing is complicated for FA because there are often many genes that are associated with its development, and large deletions, duplications, or sequence variations are frequently found in some of these genes. This study describes successful genetic testing for molecular diagnosis, and subsequent prenatal diagnosis, of FA in a patient and his family in Korea. We analyzed all exons and flanking regions of the FANCA, FANCC, and FANCG genes for mutation identification and subsequent prenatal diagnosis. Multiplex ligation-dependent probe amplification analysis was performed to detect large deletions or duplications in the FANCA gene. Molecular analysis revealed two mutations in the FANCA gene: a frameshift mutation c.2546delC and a novel splice-site mutation c.3627-1G>A. The FANCA mutations were separately inherited from each parent, c.2546delC was derived from the father, whereas c.3627-1G>A originated from the mother. The amniotic fluid cells were c.3627-1G>A heterozygotes, suggesting that the fetus was unaffected. This is the first report of genetic testing that was successfully applied to molecular diagnosis of a patient and subsequent prenatal diagnosis of FA in a family in Korea.

  18. Chromosome 15q overgrowth syndrome: Prenatal diagnosis, molecular cytogenetic characterization, and perinatal findings in a fetus with dup(15(q26.2q26.3

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    Chih-Ping Chen

    2011-09-01

    Conclusion: The present case provides evidence for prenatal overgrowth, craniosynostosis, and characteristic facial dysmorphism in association with a duplication of 15q26.2→q26.3 and a duplication of the IGF1R gene. Prenatal diagnosis of fetal overgrowth should include a differential diagnosis of the chromosome 15q overgrowth syndrome.

  19. Lymphoma cytogenetics.

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    Dave, Bhavana J; Nelson, Marilu; Sanger, Warren G

    2011-12-01

    Lymphomas are a heterogeneous group of neoplasms with distinct morphologic, immunologic, and cytogenetic characteristics. Overlapping morphologic and immunophenotypic features often makes accurate diagnosis difficult. Cytogenetics helps simplify the diagnostic complexities presented in transforming and progressive lymphoid malignancies. Genetic studies using technical advances such as fluorescence in situ hybridization and the newer approaches of array comparative genomic hybridization and gene expression profiling play a critical and often defining role in the diagnosis, progression, prognosis, and therapeutic stratification. This article reviews characteristic cytogenetic abnormalities in specific subtypes of lymphomas at diagnosis, disease progression, and prognosis.

  20. Results of six years of cytogenetic studies in amniotic fluid

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    Enelis Reyes Reyes

    2015-10-01

    Full Text Available Background: research into different genetic diseases is one of the preventive programs of paramount importance at public health level. The early detection of chromosomopathies and the establishment of an appropriate strategy reduce the morbidity-morality rate and improve the patients’ quality of life.Objective: to describe the behavior of the results of the cytogenetic studies in the amniotic fluid of pregnant women from Las Tunas province during six years: from 2008 to 2014.Methods: a retrospective and descriptive study was carried out to assess the results of cytogenetic studies in amniotic liquid during six years: from 2008 to 2014. The statistical records were checked and the results, the indication criteria, the behavior of the age groups in women advanced in age and the diagnosed chromosomopathies were assessed.Results: the samples with results that exceeded the non-conclusive and positive women prevailed; 2, 3 positive cases of chromosomopathies were diagnosed out of 100 studied women at risk; pregnant women of advanced gestational years prevailed as indication criterion, being the 37 to 40 years old age group the predominant one; in the positive cases, numeric chromosomopathies of the type trisomy 21 or Down’s syndrome prevailed, with a frequency of 1, 2 out of 100 pregnant women at risk.Conclusions: the program of the cytogenetic diagnosis in the amniotic fluid has been an effective tool to detect congenital prenatal defects by chromosomopathies, very useful in the process of genetic advice.

  1. [The molecular-cytogenetic characterization and tyrosine kinase inhibitors efficacy in newly diagnosed chronic phase CML patients with variant Philadelphia chromosomes].

    Science.gov (United States)

    Zhao, J J; Zhang, Y L; Zhang, S J; Zhou, J; Yu, F K; Zu, Y L; Zhao, H F; Li, Z; Song, Y P

    2018-03-14

    Objective: To investigate the molecular-cytogenetic characterization and impact on tyrosine kinase inhibitors (TKIs) therapy in chronic phase of chronic myeloid leukemia (CML-CP) patients with variant Ph chromosome (vPh). Methods: The clinical data of 32 patients with vPh chromosomes were collected and compared with 703 patients with typical Ph chromosome in newly diagnosed CML-CP who were on first-line imatinib (IM) and with BCR-ABL transcript of P210. Results: There was no significant difference in demographic and hematological characteristics between vPh and classic Ph patients. 3(9.4%) of the 32 vPh cases were simple variant translocations. Among the remaining 29 cases with complex variant translocations, 28 cases (87.5%) involved 3 chromosomes, and only 1 (3.1%) involved 4 chromosomes. Except for 8, 15, 18, X, and Y chromosomes, the other chromosomes were involved. The frequency of chromosome 12q(15.5%) and 1p (12.1%) were higher involved. The most common FISH signal pattern was 2G2R1Y (74.1%), followed by 1G1R2F (14.8%), 2G1R1Y (3.7%), 1G2R1Y (3.7%), 1G1R1Y (3.7%). The comparison of complete cytogenetic response (CCyR) ( P =0.269), major molecular response (MMR) ( P =0.391) were carried out between simple and complex mechanisms, without difference. Compared with the classic Ph, the patients with vPh had higher IM primary resistance rate ( χ 2 =3.978, P =0.046), especially primary hematological resistance ( χ 2 =7.870, P =0.005), but the difference of CCyR ( χ 2 =0.192, P =0.661), MMR ( χ 2 =0.822, P =0.365), EFS ( χ 2 =0.509, P =0.476), OS ( χ 2 =3.485, P =0.062) were not statistically significant, and multivariate analysis showed that the presence of vPh did not affect OS ( RR =0.692, 95% CI 0.393-1.765, P =0.658)、EFS ( RR =0.893, 95% CI 0.347-2.132, P =0.126) and PFS ( RR =1.176, 95% CI 0.643-2.682, P =0.703). Conclusion: CML-CP patients with vPh and classic Ph had similar demographic and hematological characteristics. Except for 22q11, 9q34, the

  2. [Magnetic resonance imaging as a prenatal diagnostic tool supplementary to ultrasound in diagnosing fetal and gestational abnormalities].

    Science.gov (United States)

    Porat, Shay; Agid, Ronit; Elchalal, Uriel; Ezra, Yossi; Gomori, J Moshe; Nadjari, Michelle

    2002-04-01

    The use of Magnetic Resonance Imaging (MRI) as a prenatal and gestational imaging modality supplementary to ultrasound has become widespread with the advent of rapid MR sequences in the last few years. These sequences allow acquisition of high-resolution images of the fetus in a single breath-holding period of the mother, with minimal fetal motion artifacts. We describe our experience with this modality in the diagnosis of prenatal and gestational abnormalities. The study population consisted of 39 pregnant women who had a total of 40 MRI examinations from 7/1998 to 7/2000. The indication for all examinations was a suspected fetal or gestational abnormality as suggested by ultrasound scan, laboratory tests or by family history. In 31 cases (77.5%) a correlation was found between the ultrasound findings and the MR imaging, of which in 6 cases (15%) the MRI added new valuable information. In 9 cases (22.5%) the MRI ruled out findings suspected by ultrasound. The prenatal findings were compared with postnatal clinical follow-up, imaging or pathology report in 26 cases (66.6%). In two cases the clinical outcome and postnatal imaging were discordant with the prenatal imaging findings in ultrasound and MRI. Although not proven, MRI is considered safe during pregnancy because it does not use ionizing radiation. It depicts fetal anatomy and pathology well. Also uterine, placental and other maternal structures are well demonstrated. This tool is useful in cases in which there is a suspicion of a malformed fetus or abnormal placenta by an ultrasound examination or in cases in which an ultrasound examination is limited by technical factors. MRI was found to help parents and doctors decide about the fate of a suspected abnormal pregnancy by adding valuable information supplemental to ultrasound examination.

  3. Acrania/encephalocele sequence (exencephaly) associated with 92,XXXX karyotype: early prenatal diagnosis at 9(+5) weeks by 3D transvaginal ultrasound and coelocentesis.

    Science.gov (United States)

    Tonni, Gabriele; Ventura, Alessandro; Bonasoni, Maria Paola

    2009-09-01

    A 27-year-old pregnant woman was diagnosed by 3D transvaginal ultrasound as carrying a fetus of 9(+5) weeks gestation affected by acrania/encephalocele (exencephaly) sequence. A 2D transvaginal ultrasound-guided aspiration of 5 mL of extra-coelomic fluid was performed under cervical block before uterine suction. Conventional cytogenetic analysis demonstrated a 92,XXXX karyotype. Transvaginal 2D ultrasound-guided coelocentesis for rapid karyotyping can be proposed to women who are near to miscarriage or in cases where a prenatal ultrasound diagnosis of congenital anomaly is performed at an early stage of development. Genetic analysis can be performed using traditional cytogenetic analysis or can be aided by fluorescence in situ hybridization (FISH). Coelocentesis may become an integral part of first trimester armamentarium and may be clinically useful in the understanding of the pathogenesis of early prenatally diagnosed congenital anomalies.

  4. "They Can't Find Anything Wrong with Him, Yet": Mothers' experiences of parenting an infant with a prenatally diagnosed copy number variant (CNV).

    Science.gov (United States)

    Werner-Lin, Allison; Walser, Sarah; Barg, Frances K; Bernhardt, Barbara A

    2017-02-01

    Chromosome microarray (CMA) testing is used widely in prenatal settings. Some copy number variants (CNVs) detected using CMA are associated with variable or uncertain phenotype and/or possible neurocognitive involvement. Little is known about parenting an infant following such findings. Researchers conducted interviews with 23 mothers of infants diagnosed prenatally with a potentially pathogenic CNV to elicit perspectives on the child's development and disclosure of results to others. Interviews were audiotaped and analyzed for common themes. Most respondents reported their infants were developing typically. The majority expressed concern about their child's future development given the CNV. They reassured themselves their child was unaffected by: comparing him/her to siblings, scrutinizing the child's appearance and behavior, or following provider reassurances. Even without developmental and neurological concerns, some remained acutely observant of their child's neurocognitive development, leading to enrollment in early intervention or ongoing medical assessments. Mothers who were unconcerned stated they would likely attribute atypical behavior or developmental to the CNV. All interviewees shared the result with pediatricians, relatives, or friends, and many shared across groups. Most shared information with pregnant friends considering prenatal testing, but withheld partial or full information from family members due to stigma, lack of understanding, inability to explain the CNV, or presumptions that the child was unaffected. Research must address the long-term consequences of returning uncertain results for parent-child bonding and costs of ongoing assessment and early intervention for typically developing children. Follow up appointments will permit providers to screen for anxiety and assuage worry in the absence of symptoms. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  5. Recent diagnostic and therapeutic approaches to prenatally and perinatally diagnosed hydronephrosis and their implementation in the University Clinical Hospital Mostar.

    Science.gov (United States)

    Mandić, Vjekoslav; Martinović, Vlatka; Kvesić, Ante; Bukvić, Nado; Skitarelić, Nataša; Brekalo, Zdrinko; Ivanković, Krunoslav; Šetka, Violeta

    2015-03-01

    A shift of the diagnostics of urological malformations towards the fetal age by means of ultrasound, especially hydronephrosis which, apart from reflux, is the most frequent developmental urological disorder, opened many dilemmas and debates. In the course of more than three decades the application of this diagnostic approach to the problem of hydrone- phrosis became a routine clinical practice in all modern clinics. In this paper we present the problems related to this diagnostic method and its delayed application in the Mostar University Clinical Hospital. Along with the exposition of a general approach to the problem of hydronephrosis we briefly present our modest collection of cases which points to the most recent trend of a vigorous medical development in this region, despite unfavorable overall conditions which prevailed so far. The observation included 56 children with prenatal, perinatal and early age determination of pyelon dilatation by means of ultrasonic exploration who were treated surgically. Of this number 32 (57.14%) were male, and 24 (42.86%) female children. Of the observed patients 56 had unilateral and 6 had bilateral pyelon dilatation so that 62 kidneys in all were observed and treated. The dilatation was determined prenatally in 24 (38.7%) out of 62 kidneys observed in all, in 7 (11.29%) the disorder was observed perinatally and in remaining 31 cases (49.9%) it manifested during early childhood, school age, even at the age of pre-puberty. Of the children with prenatally and perinatally determined dilatation, in 14 (45.16%) out of 31 (100.0%) observed kidneys the ap radius of the dilated pyelon was between 10-15 mm, and in 17 (54.84%) more than 15 mm. Along with other examinations (MAG3 and DMSA) the patients were followed-up by ultrasonic exploration of the observed kidney for 6 to 30 (average 18) months after postnatal diagnosis; the ultrasonic exploration was repeated in intervals of 6 months. Within 12 months of birth surgical intervention

  6. Positive predictive value and completeness of prenatally assigned International Classification of Disease-10 kidney anomaly diagnoses in the Danish National Patient Registry

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    Rasmussen M

    2016-01-01

    Full Text Available Maria Rasmussen,1 Morten Smærup Olsen,2 Lone Sunde,1,3 Lars Pedersen,2 Olav Bjørn Petersen4 1Department of Clinical Genetics, Aarhus University Hospital, Skejby, 2Department of Clinical Epidemiology, Aarhus University Hospital, Skejby, 3Department of Biomedicine, Aarhus University, Aarhus, 4Department of Gynecology and Obstetrics, Aarhus University Hospital, Skejby, Denmark Objective: Restricting studies of severe congenital malformations to live-born children may introduce substantial bias. In this study, we estimated the attendance to the second-trimester fetal malformation screening program. We also estimated the positive predictive value (PPV of prenatally assigned International Classification of Disease-10 diagnoses recorded in the Danish National Patient Registry (DNPR and the completeness of case registration. We used kidney anomalies as an example. Methods: We identified the proportion of all Danish live-born children from January 1, 2007 to December 31, 2012, who were scanned during the second trimester using the DNPR and the Civil Registration System. Details of all fetuses with specific kidney anomaly diagnoses according to the DNPR were retrieved. The PPV was estimated using the nationwide Astraia database of pregnancy medical charts or traditional medical charts, as gold standard. The completeness was assessed using the total number of cases estimated by the capture–recapture method. Results: Of 372,263 live born infants, 97.3% were scanned during the second trimester. We identified 172 fetuses in the DNPR. Of these, 149 had kidney anomalies according to Astraia or medical chart review, corresponding to a PPV of 87% (95% CI: 81%–91%. The estimated completeness was 43% (95% CI: 38%–49% for the DNPR and 75% (95% CI: 70%–79% for Astraia. Conclusion: Almost all live-born children were scanned during the second trimester in Denmark. However, low completeness may hamper the use of the DNPR for studies of prenatally detected

  7. Diagnósticos de Enfermagem identificados em gestantes durante o pré-natal Diagnósticos de Enfermería identificados en embarazos durante el prenatal Nursing Diagnoses identified in pregnant patients under prenatal care

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    Sandra Valéria Martins Pereira

    2005-12-01

    Full Text Available Esta pesquisa descritiva objetivou analisar o perfil de Diagnósticos de Enfermagem identificados em gestantes de baixo-risco. Participaram onze gestantes atendidas no pré-natal de uma maternidade segura no estado de Goiás. Os dados foram classificados segundo a taxonomia II da North American Nursing Diagnosis Association (NANDA e analisados à luz de referenciais da obstetrícia. Foram identificados 25 diferentes Diagnósticos de Enfermagem. Todas as gestantes apresentaram: Conhecimento deficiente (diferentes graus e assuntos, Padrão de sono perturbado, Intolerância à atividade percebida, Déficit do autocuidado (banho e higiene, Incontinência urinária por pressão e alguns diagnósticos de risco. Identificar Diagnóstico de Enfermagem da NANDA permite a determinação do grau de risco gestacional, detecção precoce de complicações e individualização da assistência de enfermagem.Este estudio descriptivo pretende analizar el perfil de Diagnósticos de Enfermería identificados en embarazos de bajo riesgo. Participaron once embarazadas atendidas en el prenatal de una maternidad confiable en el estado de Goiás. Los datos fueron clasificados según la taxonomía II de la North American Nursing Diagnosis Association (NANDA/Asociación Norteamericana de Diagnósticos de Enfermería y analizados bajo los referenciales de la obstetricia. Fueron identificados 25 diferentes Diagnósticos de Enfermería. Todas las embarazadas presentaron: Conocimiento insuficiente (diferentes grados y asuntos, Patrón de sueño alterado, Intolerancia a la actividad percibida, falta de auto-higiene (baño e higiene personal, Incontinencia urinaria por presión y algunos diagnósticos de riesgo. Identificar Diagnóstico de Enfermería de NANDA permite la determinación del grado de riego, detección precoz de complicaciones e individualización de la asistencia de enfermería.This descriptive research aimed to analyze the Nursing Diagnoses identified in low

  8. Wolf-Hirschhorn (4p-) syndrome: prenatal diagnosis, molecular cytogenetic characterization and association with a 1.2-Mb microduplication at 8p22-p21.3 and a 1.1-Mb microduplication at 10p15.3 in a fetus with an apparently pure 4p deletion.

    Science.gov (United States)

    Chen, Chih-Ping; Su, Yi-Ning; Chen, Yi-Yung; Su, Jun-Wei; Chern, Schu-Rern; Chen, Yu-Ting; Chen, Wen-Lin; Chen, Li-Feng; Wang, Wayseen

    2011-12-01

    To present prenatal diagnosis and molecular cytogenetic characterization of Wolf-Hirschhorn syndrome (WHS) associated with microduplications at 8p and 10p in a fetus with an apparently pure 4p deletion. A 35-year-old gravida 2, para 1 woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Her husband was 38 years of age. There was no family history of congenital malformations. Amniocentesis revealed a karyotype of 46,XY,del(4p16.1). The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) analysis revealed a 6.5-Mb deletion at 4p16.3-p16.1, a 1.2-Mb microduplication at 8p22-p21.3, and a 1.1-Mb microduplication at 10p15.3, or arr cgh 4p16.3p16.1 (0-6,531,998 bp)×1, 8p22p21.3 (18,705,388-19,940,445 bp)×3, 10p15.3 (0-1,105,065 bp)×3. Polymorphic DNA marker analysis confirmed a paternal origin of 4p deletion. Prenatal ultrasound revealed facial dysmorphism and hypospadias. The aCGH analysis of the parents revealed no genomic imbalance. Fluorescence in situ hybridization study showed an unbalanced reciprocal translocation between chromosomes 4 and 10 at bands 4p16.1 and 10p15.3. The cytogenetic result, thus, was 46,XY,der(4)t(4;10)(p16.1;p15.3),dup(8)(p21.3p22). The parents elected to terminate the pregnancy, and a 470-g malformed fetus was delivered. The present case provides evidence that an apparently pure 4p deletion can be associated with subtle chromosome imbalances in other chromosomes. Copyright © 2011. Published by Elsevier B.V.

  9. Amino-Terminal proB-Type Natriuretic Peptide Levels in the Umbilical Cord Blood of Neonates Differ According to the Type of Prenatally Diagnosed Congenital Heart Disease.

    Science.gov (United States)

    Bae, Jin Young; Cha, Hyun-Hwa; Seong, Won Joon

    2015-12-01

    The aim of this study was to investigate differences in amino-terminal proB-type natriuretic peptide (NT-proBNP) levels in the cord blood of neonates according to the type of congenital heart disease (CHD) and to evaluate the usefulness of NT-proBNP as a prognostic marker. We included 76 neonates with prenatally diagnosed CHD and 45 controls without CHD. Neonates were classified into five groups based on echocardiographic findings. The levels of NT-proBNP in the cord blood were examined and analyzed according to the neonatal outcomes. The levels of NT-proBNP were significantly elevated in the cord blood of neonates with CHD compared with that in the cord blood of controls. The levels of NT-proBNP in the group with right ventricular outflow tract obstruction without a ventricular septal defect were significantly increased compared to that in the other groups. The neonates that required acute surgical correction had higher levels of NT-proBNP in the cord blood, though they were not statistically significant. Meanwhile, NT-proBNP levels in the cord blood of neonates with functional single ventricle were significantly higher than that in the cord blood of those with functional biventricles. Significant differences in the levels of NT-proBNP between survivors and nonsurvivors were observed within 1 year of birth. In this study, we found that the levels of NT-proBNP in the cord blood of neonates with CHD were higher than the levels in controls. This finding was striking in the group with right ventricular outflow tract obstruction, and it was associated with surgery for functional single ventricle and 1-year survival.

  10. Fetal polycystic renal disease: prenatal sonographic findings with pathologic correlation

    International Nuclear Information System (INIS)

    Jun, Soon Ae; Park, Yong Hyun; Cha, Sun Hee; Kay, Jung Woong; Cho, Joo Yeon; Cha, Kwang Yul; Cha, Kyung Sub; Chi, Je G.

    1990-01-01

    Polycystic renal disease are congenital disorders, most of which are fatal in the postnatal period. A series of ten cases of polycystic renal disease diagnosed prenatally by ultrasonography is presented. Diagnostic criteria of ultrasonography for cystic renal disease are; 1. enlarge kidney (4 cases) 2. echogenic density of kidney (3 cases) 3. 0.4 - 0.9cm sized multiple cysts within the renal cortex (3 cases) 4. decreased amount of amniotic fluid (4 cases) 5. hydronephrosis (4 cases) 6. distended bladder (2 cases) 7. absence of bladder (2 cases) Eight of ten cases were confirmed by autopsy. Seven cases had other associated congenital anomalies, i.e. pulmonary hypoplasia (5), hepatic fibrosis (3), congenital heart disease (3), tracheoesophageal fistula with imperforate anus (1), caudal regression syndrome (1), Meckel-Gruber syndrome (1) and ambiguous genitalia (2). Additional cytogenetic study of the fetus and the careful family history taking followed by prenatal diagnosis of cystic renal disease. Precise prenatal diagnosis may allow patients the option of elective abortion or may prevent unnecessary obstetric intervention

  11. Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family.

    Science.gov (United States)

    Chen, Chih-Ping; Chang, Shuenn-Dyh; Wang, Tzu-Hao; Wang, Liang-Kai; Tsai, Jeng-Daw; Liu, Yu-Peng; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Chen, Yu-Ting; Wang, Wayseen

    2013-12-01

    This study was aimed at detection of recurrent transmission of the 17q12 microdeletion in a fetus with congenital anomalies of the kidney and urinary tract. A 35-year-old woman was referred to the hospital at 20 weeks' gestation because of hydronephrosis in the fetus. The mother was normal and healthy. Her second child was a girl who had bilateral dysplastic kidneys that required hemodialysis, and died at the age of 5 years. During this pregnancy, the woman underwent amniocentesis at 18 weeks' gestation because of advanced maternal age. Cytogenetic analysis revealed a karyotype of 46,XY. Prenatal ultrasound showed left hydronephrosis with a tortuous ureter, right hydronephrosis, and increased echogenicity of the kidneys. Fetal magnetic resonance imaging showed right dilated renal calyces, left hydronephrosis, hydroureter, and multicystic kidney. The pregnancy was subsequently terminated. Array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization were applied for genetic analysis using umbilical cord, maternal blood, and cultured amniocytes. aCGH analysis on umbilical cord detected a 1.75-Mb deletion at 17q12 including haploinsufficiency of LHX1 and HNF1B. aCGH analysis on maternal blood detected a 1.54-Mb deletion at 17q12 including haploinsufficiency of LHX1 and HNF1B. Metaphase fluorescence in situ hybridization analysis on cultured amniocytes and maternal blood lymphocytes using 17q12-specific bacterial artificial chromosome probe showed 17q12 microdeletion in the fetus and the mother. Prenatal diagnosis of recurrent renal and urinary tract abnormalities in the fetus should include a differential diagnosis of familial 17q12 microdeletion. Copyright © 2013. Published by Elsevier B.V.

  12. A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.

    Science.gov (United States)

    Poirsier, Céline; Besseau-Ayasse, Justine; Schluth-Bolard, Caroline; Toutain, Jérôme; Missirian, Chantal; Le Caignec, Cédric; Bazin, Anne; de Blois, Marie Christine; Kuentz, Paul; Catty, Marie; Choiset, Agnès; Plessis, Ghislaine; Basinko, Audrey; Letard, Pascaline; Flori, Elisabeth; Jimenez, Mélanie; Valduga, Mylène; Landais, Emilie; Lallaoui, Hakima; Cartault, François; Lespinasse, James; Martin-Coignard, Dominique; Callier, Patrick; Pebrel-Richard, Céline; Portnoi, Marie-France; Busa, Tiffany; Receveur, Aline; Amblard, Florence; Yardin, Catherine; Harbuz, Radu; Prieur, Fabienne; Le Meur, Nathalie; Pipiras, Eva; Kleinfinger, Pascale; Vialard, François; Doco-Fenzy, Martine

    2016-06-01

    Although 22q11.2 deletion syndrome (22q11.2DS) is the most recurrent human microdeletion syndrome associated with a highly variable phenotype, little is known about the condition's true incidence and the phenotype at diagnosis. We performed a multicenter, retrospective analysis of postnatally diagnosed patients recruited by members of the Association des Cytogénéticiens de Langue Française (the French-Speaking Cytogeneticists Association). Clinical and cytogenetic data on 749 cases diagnosed between 1995 and 2013 were collected by 31 French cytogenetics laboratories. The most frequent reasons for referral of postnatally diagnosed cases were a congenital heart defect (CHD, 48.6%), facial dysmorphism (49.7%) and developmental delay (40.7%). Since 2007 (the year in which array comparative genomic hybridization (aCGH) was introduced for the routine screening of patients with intellectual disability), almost all cases have been diagnosed using FISH (96.1%). Only 15 cases (all with an atypical phenotype) were diagnosed with aCGH; the deletion size ranged from 745 to 2904 kb. The deletion was inherited in 15.0% of cases and was of maternal origin in 85.5% of the latter. This is the largest yet documented cohort of patients with 22q11.2DS (the most commonly diagnosed microdeletion) from the same population. French cytogenetics laboratories diagnosed at least 108 affected patients (including fetuses) per year from among a national population of ∼66 million. As observed for prenatal diagnoses, CHDs were the most frequently detected malformation in postnatal diagnoses. The most common CHD in postnatal diagnoses was an isolated septal defect.

  13. Cytogenetic Analysis for Research and Services

    Directory of Open Access Journals (Sweden)

    Sultana MH Faradz

    2017-02-01

    Full Text Available Abstract That the correct chromosome number in man is 46 was first recognized by Tjio and Levan in 1956. Perhaps few Indonesians know that Tjio was an Indonesian scientist studying in Sweden and then living in the US. Cytogenetic analyses are commonly performed to determine both structural and numerical chromosome aberration, whilst changes in chromosomes can lead to birth defects, syndromes, or even cancer.  Several chromosomal aneuploidy syndromes were identified after the establishment of various chromosome banding techniques in late 1960’s.  Specific cell culture media was found to express fragile site in the beginning of 1970’s and since then, inherited Fragile X Mental Retardation syndrome could be diagnosed.  However, some female permutation cases have been often misdiagnosed. Further molecular analysis has resolved this problem by revealing more CGG repeats in the promoter region FMR1 gene, which is related to the expression of fragile site and the severity of the diseases. In Disorder of Sex Development (DSD, early gender assignment and reconstruction surgery has been challenged because of the dilemma of gender identity development in later life. Cytogenetic analysis for the first-line gender assignment is important in newborn with DSD. Proper diagnosis with hormonal and mutation analysis should be elucidated to avoid medical, psychological, and social aspect in adult life. The most frequent genetic cases in our clinical experiences have been Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia. Female Complete Androgen Insensitivity Syndrome (CAIS with main symptom primary amenorrhea without cytogenetic analysis has often been diagnosed as inguinal hernia because of testicle location and size. Diagnosis and treatment of several leukemias and lymphomas, as well as some solid tumors, depend on cytogenetic analyses to demonstrate consistent, specific chromosomal aberrations. Chromosome analysis in hematologic

  14. Advanced microtechnologies for cytogenetic analysis

    DEFF Research Database (Denmark)

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

    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...... cytogenetic techniques such as fluorescent in situ hybridization (FISH). To improve FISH application in cytogenetic analysis the issues with long experimental time, high volumes of expensive reagents and requirement for trained technicians need to be addressed. The protocol has recently evolved towards...... to introduce automation in the cytogenetic laboratories at a microscale. We have developed membrane based micro perfusion systems capable of expansion of lymphocytes in a shorter time and at a smaller scale. The simulated and experimental results show very efficient exchange of the growth medium...

  15. Cytogenetics in animal production

    Directory of Open Access Journals (Sweden)

    L. Iannuzzi

    2010-04-01

    Full Text Available Cytogenetics applied to domestic animals is a useful biotechnology to be applied in the genetic improvement of livestock. Indeed, it can be used to select reproducers free chromosome abnormalities which are responsible for abnormal body conformation (aneuploidy, lower fertility (balanced chromosome abnormalities or sterility (sex chromosome abnormalities. Cytogenetics may also be applied to assess environmental pollution by studying animals living in hazardous areas and using them as biological indicators (sentinels. Chromosomes also represent optimal biological structures to study the evolution among related (bovids and unrelated (bovidshumans species, especially using comparative FISH-mapping which is one of the most powerful tools to establish the correct order of loci along chromosomes. These comparisons allow us to transfer useful information from richer genomes (human to those of domestic animals. Moreover, the use of specific molecular markers and the FISH-technique on both mitotic and extended (fiber-FISH chromosomes, has heralded a new era of cytogenetics, allowing swift extension of genetic physical maps, better anchoring of both linkage and RH-maps to specific chromosome regions, and use in a variety of applications (clinical cases, embryo and sperm analyses, evolution. In this study a brief review of these fields of the animal cytogenetics is presented.

  16. Prenatal Tests

    Science.gov (United States)

    ... Careers Archives Health Topics Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ... Report Cards Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ...

  17. Cytogenetic Resources and Information.

    Science.gov (United States)

    De Braekeleer, Etienne; Huret, Jean-Loup; Mossafa, Hossain; Dessen, Philippe

    2017-01-01

    The main databases devoted stricto sensu to cancer cytogenetics are the "Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer" ( http://cgap.nci.nih.gov/Chromosomes/Mitelman ), the "Atlas of Genetics and Cytogenetics in Oncology and Haematology" ( http://atlasgeneticsoncology.org ), and COSMIC ( http://cancer.sanger.ac.uk/cosmic ).However, being a complex multistep process, cancer cytogenetics are broadened to "cytogenomics," with complementary resources on: general databases (nucleic acid and protein sequences databases; cartography browsers: GenBank, RefSeq, UCSC, Ensembl, UniProtKB, and Entrez Gene), cancer genomic portals associated with recent international integrated programs, such as TCGA or ICGC, other fusion genes databases, array CGH databases, copy number variation databases, and mutation databases. Other resources such as the International System for Human Cytogenomic Nomenclature (ISCN), the International Classification of Diseases for Oncology (ICD-O), and the Human Gene Nomenclature Database (HGNC) allow a common language.Data within the scientific/medical community should be freely available. However, most of the institutional stakeholders are now gradually disengaging, and well-known databases are forced to beg or to disappear (which may happen!).

  18. Prenatal diagnosis of Down syndrome: A 13-year retrospective study

    Directory of Open Access Journals (Sweden)

    Ana Vičić

    2017-12-01

    Conclusion: In prenatal diagnosis of Down syndrome noninvasive screening methods are important for estimation of individual risks, in both, young population of woman and older mothers, while conventional and molecular cytogenetic methods are essential for definite diagnosis and proper genetic counseling.

  19. In situ hybridization (ISH) in a cytogenetic; Hybrydyzacja in situ w genetyce

    Energy Technology Data Exchange (ETDEWEB)

    Zawada, M. [Polska Akademia Nauk, Poznan (Poland). Zaklad Genetyki Czlowieka; Latos-Bielenska, A. [Akademia Medyczna, Poznan (Poland)

    1993-12-31

    Nucleic acids contain genetic information for structure and function of cell organism. The information bearing sequences of DNA, know as genes, are spread along DNA molecule. ISH is one of the best and the most-direct techniques available for studies on gene localization, structure and expression. It combines technical achievements of molecular biology and cytogenetic. Application of ISH provides an opportunity to visualize specific DNA or RNA sequences in preparations of chromosomes, cells or tissue sections. It has been used widely both in research (genes mapping and expression, genome evolution, nuclear topography, mitosis, meiosis) as well as in clinical studies (clinical cytogenetic, prenatal diagnostics, cancer diagnostics). (author). 46 refs.

  20. Omitting cytogenetic assessment from routine treatment response monitoring in chronic myeloid leukemia is safe.

    Science.gov (United States)

    Geelen, Inge G P; Thielen, Noortje; Janssen, Jeroen J W M; Hoogendoorn, Mels; Roosma, Tanja J A; Valk, Peter J M; Visser, Otto; Cornelissen, Jan J; Westerweel, Peter E

    2018-04-01

    The monitoring of response in chronic myeloid leukemia (CML) is of great importance to identify patients failing their treatment in order to adjust TKI choice and thereby prevent progression to advanced stage disease. Cytogenetic monitoring has a lower sensitivity, is expensive, and requires invasive bone marrow sampling. Nevertheless, chronic myeloid leukemia guidelines continue to recommend performing routine cytogenetic response assessments, even when adequate molecular diagnostics are available. In a population-based registry of newly diagnosed CML patients in the Netherlands, all simultaneous cytogenetic and molecular assessments performed at 3, 6, and 12 months were identified and response of these matched assessments was classified according to European Leukemia Net (ELN) recommendations. The impact of discrepant cytogenetic and molecular response classifications and course of patients with additional chromosomal abnormalities were evaluated. The overall agreement of 200 matched assessments was 78%. In case of discordant responses, response at 24 months was consistently better predicted by the molecular outcome. Cytogenetic response assessments provided relevant additional clinical information only in some cases of molecular "warning." The development of additional cytogenetic abnormalities was always accompanied with molecular failure. We conclude that it is safe to omit routine cytogenetics for response assessment during treatment and to only use molecular monitoring, in order to prevent ambiguous classifications, reduce costs, and reduce the need for invasive bone marrow sampling. Cytogenetic re-assessment should still be performed when molecular response is suboptimal. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  1. RHOEO SPATHACEA: A CYTOGENETICAL REVIEW

    OpenAIRE

    Datta Animesh K.; Mandal Aninda; Bhattacharya Arnab; Saha Aditi; Paul Rita

    2012-01-01

    A cytogenetical review is conducted on Rhoeo spathacea (Swartz) Stearn (monotypic genus of the family Commelinaceae) including conventional heterozygote (var. bicolor) form (2n=12) and a rare bivalent forming clone of var. concolor (2n=12) with an objective to provide cytological configurations explaining some of the important cytogenetical aspects, which is rather difficult in sexually propagated plant species due to sterility barriers. Cytological configurations documented may generate inte...

  2. Cytogenetic study of a pineocytoma

    DEFF Research Database (Denmark)

    Rainho, C A; Rogatto, S R; de Moraes, L C

    1992-01-01

    The cytogenetic findings based on G-banding in a pineocytoma detected in a 29-year-old woman are reported. The chromosomal study showed numerical alterations involving chromosomes X, 5, 8, 11, 14, and 22, structural alterations of chromosomes 1, 3, 12, and 22, as well as various markers. Tumors...... of the pineal region are infrequent, and this is the first report of a pineocytoma studied cytogenetically....

  3. Prenatal Diagnosis Of Tay-Sachs Disease

    Directory of Open Access Journals (Sweden)

    Özgür Özyüncü

    2010-04-01

    CONCLUSION: Tay-Sachs disease can be diagnosed prenatally by measuring hexosaminidase enzyme activity in fetal tissue samples with an acceptable complication rate. Prenatal diagnosis should be offered to families who have affected siblings with Tay-Sachs disease.

  4. Prenatal Tests

    Science.gov (United States)

    ... tests are considered routine — that is, almost all pregnant women receiving prenatal care get them. They include things like checking urine (pee) levels for protein, sugar, or signs of infection. Other non-routine ...

  5. Cytogenetic study is not essential in patients with aplastic anemia

    Science.gov (United States)

    Dutta, Atreyee; De, Rajib; Dolai, Tuphan K; Mitra, Pradip K; Halder, Ajanta

    2017-01-01

    Depending on contemporary treatment approach of aggressive immunosuppression, Aplastic Anemia (AA) is caused by immunological destruction of otherwise normal hematopoietic stem cells. The aim was to summarize the cytogenetic abnormalities in AA patients and the frequency of Fanconi Anemia (FA) in morphologically normal AA patients in eastern India. Ethical clearances were obtained from both institutions involved in this study. Out of 72800 patients attending the outpatient department, 520 pancytopenia patients were screened for AA after Bone marrow (BM) aspiration and biopsy. Samples were collected from 117 cases in 3 phases. 51 peripheral venous blood (PVB) samples in the first phase, 19 BM & PVB paired samples in the second phase and 47 BM samples in third phase were collected followed by leukocyte and/or BM stem cell culture. Next GTG banding and karyotyping were performed. PVB was collected from 63 (< 50 years) AA patients and stress cytogenetics was done to diagnose FA. In the first phase of the study, out of 51 PVB samples, 1 (1.96%) showed a unique chromosomal abnormality, i.e. 45,XY,rob(14:21)(p10:q10)[20]. In the second phase of study, among 19 BM & PVB paired samples, 1 (5.26%) showed abnormal karyotype i.e. 45,X,-Y[3]/46,XY[47]. In the third phase of the study, 47 BM samples showed normal karyotype. Only 6 (9.52%) cases were found positive for stress cytogenetics. A negligible percentage showing cytogenetic abnormality in such a considerable number of AA cases indicates that routine cytogenetic analysis of AA patient is not essential. A significant percentage was positive for stress cytogenetics; suggestive for FA, even the patients were morphologically normal. PMID:29181263

  6. Cytogenetic profile of aplastic anaemia in Indian children.

    Science.gov (United States)

    Gupta, Vineeta; Kumar, Akash; Saini, Isha; Saxena, Ajit Kumar

    2013-03-01

    Aplastic anaemia is a rare haematological disorder characterized by pancytopenia with a hypocellular bone marrow. It may be inherited/genetic or acquired. Acquired aplastic anaemia has been linked to many drugs, chemicals and viruses. Cytogenetic abnormalities have been reported infrequently with acquired aplastic anaemia. Majority of the studies are in adult patients from the West. We report here cytogenetic studies on paediatric patients with acquired aplastic anaemia seen in a tertiary care hospital in north India. Patients (n=71, age 4-14 yr) were diagnosed according to the guidelines of International Agranulocytosis and Aplastic Anaemia Study. Conventional cytogenetics with Giemsa Trypsin Giemsa (GTG) banding was performed. Karyotyping was done according to the International System for Human Cytogenetics Nomenclature (ISCN). Of the 71 patients, 42 had successful karyotyping where median age was 9 yr; of these 42, 27 (64.3%) patients had severe, nine (21.4%) had very severe and six (14.3%) had non severe aplastic anaemia. Five patients had karyotypic abnormalities with trisomy 12 (1), trisomy 8 (1) and monosomy 7 (1). Two patients had non numerical abnormalities with del 7 q - and t (5:12) in one each. Twenty nine patients had uninformative results. There was no difference in the clinical and haematological profile of patients with normal versus abnormal cytogenetics although the number of patients was small in the two groups. Five (11.9%) patients with acquired aplastic anaemia had chromosomal abnormalities. Trisomy was found to be the commonest abnormality. Cytogenetic abnormalities may be significant in acquired aplastic anaemia although further studies on a large sample are required to confirm the findings.

  7. Cytogenetic study is not essential in patients with aplastic anemia.

    Science.gov (United States)

    Dutta, Atreyee; De, Rajib; Dolai, Tuphan K; Mitra, Pradip K; Halder, Ajanta

    2017-01-01

    Depending on contemporary treatment approach of aggressive immunosuppression, Aplastic Anemia (AA) is caused by immunological destruction of otherwise normal hematopoietic stem cells. The aim was to summarize the cytogenetic abnormalities in AA patients and the frequency of Fanconi Anemia (FA) in morphologically normal AA patients in eastern India. Ethical clearances were obtained from both institutions involved in this study. Out of 72800 patients attending the outpatient department, 520 pancytopenia patients were screened for AA after Bone marrow (BM) aspiration and biopsy. Samples were collected from 117 cases in 3 phases. 51 peripheral venous blood (PVB) samples in the first phase, 19 BM & PVB paired samples in the second phase and 47 BM samples in third phase were collected followed by leukocyte and/or BM stem cell culture. Next GTG banding and karyotyping were performed. PVB was collected from 63 (cytogenetics was done to diagnose FA. In the first phase of the study, out of 51 PVB samples, 1 (1.96%) showed a unique chromosomal abnormality, i.e. 45,XY,rob(14:21)(p10:q10)[20]. In the second phase of study, among 19 BM & PVB paired samples, 1 (5.26%) showed abnormal karyotype i.e. 45,X,-Y[3]/46,XY[47]. In the third phase of the study, 47 BM samples showed normal karyotype. Only 6 (9.52%) cases were found positive for stress cytogenetics. A negligible percentage showing cytogenetic abnormality in such a considerable number of AA cases indicates that routine cytogenetic analysis of AA patient is not essential. A significant percentage was positive for stress cytogenetics; suggestive for FA, even the patients were morphologically normal.

  8. Comparison of spatial working memory in children with prenatal alcohol exposure and those diagnosed with ADHD; A functional magnetic resonance imaging study

    Directory of Open Access Journals (Sweden)

    Malisza Krisztina L

    2012-05-01

    Full Text Available Abstract Background Alcohol related neurodevelopmental disorder (ARND falls under the umbrella of fetal alcohol spectrum disorder (FASD, but individuals do not demonstrate the facial characteristics associated with fetal alcohol syndrome (FAS, making diagnosis difficult. While attentional problems in ARND are similar to those found in attention-deficit/hyperactivity disorder (ADHD, the underlying impairment in attention pathways may be different. Methods Functional magnetic resonance imaging (fMRI of a working memory (1-back task of 63 children, 10 to 14 years old, diagnosed with ARND and ADHD, as well as typically developing (TD controls, was conducted at 3 T. Diffusion tensor imaging (DTI data were also acquired. Results Activations were observed in posterior parietal and occipital regions in the TD group and in dorsolateral prefrontal and posterior parietal regions in the ARND group, whereas the ADHD group activated only dorsolateral prefrontal regions, during the working memory component of the task (1-back minus 0-back contrast. The increases in frontal and parietal activity were significantly greater in the ARND group compared to the other groups. This increased activity was associated with reduced accuracy and increased response time variability, suggesting that ARND subjects exert greater effort to manage short-term memory load. Significantly greater intra-subject variability, demonstrated by fMRI region-of-interest analysis, in the ADHD and ARND groups compared to the TD group suggests that moment-to-moment lapses in attention contributed to their poorer task performance. Differences in functional activity in ARND subjects with and without a diagnosis of ADHD resulted primarily from reduced activation by the ARND/ADHD + group during the 0-back task. In contrast, children with ADHD alone clearly showed reduced activations during the 1-back task. DTI analysis revealed that the TD group had significantly higher total tract volume

  9. Trends in cytogenetic testing and identification of chromosomal abnormalities among pregnancies and children with birth defects, metropolitan Atlanta, 1968-2005.

    Science.gov (United States)

    Jackson, Jodi M; Crider, Krista S; Rasmussen, Sonja A; Cragan, Janet D; Olney, Richard S

    2012-01-01

    The purpose of this study was to examine changes in the use of cytogenetic testing and identification of chromosomal abnormalities among pregnancies and children with birth defects. Utilizing data from 1968 to 2005 from the Metropolitan Atlanta Congenital Defects Program, we analyzed trends in the frequency and timing (prenatal or postnatal) of cytogenetic testing and the prevalence of recognized chromosome abnormalities among pregnancies and children with birth defects (n = 51,424). Cytogenetic testing of pregnancies and children with birth defects increased from 7.2% in 1968 to 25.0% in 2005, as did the identification of chromosomal abnormalities (2.2% in 1968 to 6.8% in 2005). The use of prenatal cytogenetic testing decreased from 1996 to 2005 among women aged ≥35 years. Identification of chromosomal abnormalities in pregnancies and children with birth defects increased from 1968 to 2005, possibly due to increased testing, improved diagnostic techniques, or increasing maternal age. The decline in prenatal cytogenetic testing observed among mothers aged ≥35 years may be related to the availability of improved prenatal screening techniques, resulting in a reduction in the utilization of invasive diagnostic tests. Published 2011 Wiley Periodicals, Inc. This article is a U.S. Government work and is in the public domain in the USA.

  10. Prenatal diagnosis in Sweden: organisation and current issues.

    Science.gov (United States)

    Bui, T H; Kristoffersson, U

    1997-01-01

    Invasive prenatal diagnosis was introduced in Sweden in the early 1970s and is an integral part of the public health care system. Funding is provided by taxation; the patient only pays a consultation fee. Genetic analyses on a broad range of cytogenetic and molecular disorders are performed at the 6 university-affiliated hospitals and in 1 county hospital. About 6% of all newborns have been cytogenetically screened during pregnancy, and about 90% of the analyses are performed after amniocentesis. The main indication is chromosome analysis because of advanced maternal age.

  11. Cytogenetics of acute leukaemia

    Energy Technology Data Exchange (ETDEWEB)

    Rowley, J D

    1978-06-01

    The study of chromosomal abnormalities in patients with acute leukemia, begun just 20 years ago, has provided haematologists with new insights into the nature of this disease. It soon became evident that the modal chromosomal number and the chromosomal pattern (karyotype) appeared to be quite variable. Moreover, a number of patients appeared to have a normal karyotype. The early studies were frequently carried out using mitogen-stimulated peripheral blood cells, and one could argue that the analysis was not based on the leukemic cells. Since many of the patients with abnormalities were examined prior to treatment, the aberrations were not induced by therapy. It was noted quite early that the morphology of chromosomes from the leukemic cells was very fuzzy as compared with the chromosomes from the normal marrow cells. The reason for the poor morphology is still not understood. The results of chromosomal analysis of bone marrow-derived cells obtained from patients with acute leukemia appear to have prognostic significance, although this information is not currently being used in making decisions regarding the treatment of individual patients. The data from analyses with banding techniques reveal that there are non-random patterns of abnormalities, which supports the concept proposed by Boveri in 1914 that chromosomal aberrations are among the fundamental changes associated with malignancy. The acute non-lymphocytic leukemias (ANLL) of adults are one of the most thoroughly studied of human malignancies. Presentation of the results of cytogenetic analysis with banding of myeloid cells from these patients forms the major portion of this chapter. Recent reports on banding studies in acute lymphocytic leukemia (ALL) will be discussed and results will be compared with ANLL. Although there are very few data on the karyotypes of leukemia occurring as a second malignancy, the abnormalities seen show some distinct differences from ANLL that arises de novo.

  12. Unmet needs in automated cytogenetics

    International Nuclear Information System (INIS)

    Bender, M.A.

    1976-01-01

    Though some, at least, of the goals of automation systems for analysis of clinical cytogenetic material seem either at hand, like automatic metaphase finding, or at least likely to be met in the near future, like operator-assisted semi-automatic analysis of banded metaphase spreads, important areas of cytogenetic analsis, most importantly the determination of chromosomal aberration frequencies in populations of cells or in samples of cells from people exposed to environmental mutagens, await practical methods of automation. Important as are the clinical diagnostic applications, it is apparent that increasing concern over the clastogenic effects of the multitude of potentially clastogenic chemical and physical agents to which human populations are being increasingly exposed, and the resulting emergence of extensive cytogenetic testing protocols, makes the development of automation not only economically feasible but almost mandatory. The nature of the problems involved, and acutal of possible approaches to their solution, are discussed

  13. Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.

    Science.gov (United States)

    Drury, Suzanne; Williams, Hywel; Trump, Natalie; Boustred, Christopher; Lench, Nicholas; Scott, Richard H; Chitty, Lyn S

    2015-10-01

    In the absence of aneuploidy or other pathogenic cytogenetic abnormality, fetuses with increased nuchal translucency (NT ≥ 3.5 mm) and/or other sonographic abnormalities have a greater incidence of genetic syndromes, but defining the underlying pathology can be challenging. Here, we investigate the value of whole exome sequencing in fetuses with sonographic abnormalities but normal microarray analysis. Whole exome sequencing was performed on DNA extracted from chorionic villi or amniocytes in 24 fetuses with unexplained ultrasound findings. In the first 14 cases sequencing was initially performed on fetal DNA only. For the remaining 10, the trio of fetus, mother and father was sequenced simultaneously. In 21% (5/24) cases, exome sequencing provided definitive diagnoses (Milroy disease, hypophosphatasia, achondrogenesis type 2, Freeman-Sheldon syndrome and Baraitser-Winter Syndrome). In a further case, a plausible diagnosis of orofaciodigital syndrome type 6 was made. In two others, a single mutation in an autosomal recessive gene was identified, but incomplete sequencing coverage precluded exclusion of the presence of a second mutation. Whole exome sequencing improves prenatal diagnosis in euploid fetuses with abnormal ultrasound scans. In order to expedite interpretation of results, trio sequencing should be employed, but interpretation can still be compromised by incomplete coverage of relevant genes. © 2015 John Wiley & Sons, Ltd.

  14. Cytogenetic and molecular cytogenetic methods in hemato-oncology

    International Nuclear Information System (INIS)

    Novakova, P.; Ilencikova, D.

    2010-01-01

    Cancer, either sporadic or hereditary, is a genetic disease that develops through multiple genetic changes. Specific genetic defects have been found to be associated non randomly with the predisposition, genesis, progression, and metastasis of various kinds of neoplasia. Cytogenetics in haematological malignancy to aid in diagnosis and in identifying recurrent chromosomal rearrangements, an essential prerequisite to identifying genes involved in leukaemia and lymphoma pathogenesis. In the late 1980s, a series of technologies based around fluorescence in situ hybridisation (FISH) revolutionised the field. FISH technology, a combination of molecular and conventional cytogenetic techniques, has brought modern cytogenetics to a new era with significantly higher resolutions and much wider testing spectrum. Since then, numerous new FISH-based technologies have been emerging, from metaphase FISH to interphase FISH, from single-color FISH to multicolor FISH, from comparative gnenomic hybridisation (CGH) to array CGH, and so on. In this review the advantages and limitations of each of the various types of conventional and molecular cytogenetic methodologies are discussed with regard to their application in human neoplasia. (author)

  15. Prenatal Care.

    Science.gov (United States)

    Health Resources and Services Administration (DHHS/PHS), Rockville, MD. Office for Maternal and Child Health Services.

    This booklet is the first in a series of publications designed to provide parents with useful information about childrearing. Contents are organized into three parts. Part I focuses on the pregnancy, prenatal care, development of the baby, pregnant lifestyles, nutrition, common discomforts, and problems of pregnancy. Part II provides information…

  16. 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.

  17. A Prenatal Case Report with Patau Syndrome

    Directory of Open Access Journals (Sweden)

    Mahmut Balkan

    2008-01-01

    Full Text Available In recent years, prenatal diagnosis and elective pregnancy termination have affected the reported birth prevalence of trisomies. Trisomy 13, or Patau syndrome, represents the third autosomic trisomy in order of frequency, after trisomy 21 (Down syndrome and trisomy 18 (Edwards syndrome, with a prevalence at birth estimated as between 1:12000 and 1:29000. In this study, we are presenting the results of cytogenetic analysis and clinic assessment in fetus of a woman at 22 weeks gestation, who were referred to our genetic diagnostic laboratory with abnormal triple test result, omphalosel and hydrocephaly. We performed the cordocentesis and pedigree analysis. We found a karyotype (47,XY,+13 in fetus. Because individuals of the family didn’t want, we were not followed the pregnancy prognosis for the mother and the fetus. We were recommending to the prenatal diagnosis for their further pregnancies.

  18. Cytogenetic investigations of chronic lymphocytic leukemia.

    Science.gov (United States)

    Wren, Catherine; Moriarty, Helen; Marsden, Katherine; Tegg, Elizabeth

    2010-04-15

    This study aimed to determine which culture method would yield the highest culture success rate, mitotic index, banding resolution, and abnormality rate in investigation of patients with chronic lymphocytic leukemia (CLL). A range of culture techniques for conventional cytogenetic (CC) analyses was compared: 24-hour unstimulated, 72 hours incubation with additional fetal calf serum, 72 hours stimulation with interleukin 4, 72 hours stimulation with lipopolysaccharide (LPS), 72 hours stimulation with TPA (12-O-tetradecanoylphorbol 13-acetate), and 72 hours stimulation with CpG-oligonucleotide DSP30 + Interleukin-2 (IL-2). CC abnormality rates were also compared to fluorescence in situ hybridization (FISH) results using probes for CLL (LSI D13S319/13q34/CEP 12: LSI ATM/p53). Forty-five samples from 24 patients (consisting of 11 newly diagnosed and 13 previously diagnosed patients) were included. For CC, a 100.0% culture success rate was achieved (n = 45) by means of an EDTA (ethylenediaminetetraacetic acid) peripheral blood sample with an associated 62.5% CC abnormality rate (n = 24). FISH detected an abnormality rate of 75.0% (n = 24). The combined CC and FISH abnormality rate was 87.5% (n = 24). This study demonstrates that CC that uses TPA and DSP30 + IL-2 on EDTA peripheral blood is effective in the investigation of CLL and may be used as a supplement to FISH studies. Copyright 2010 Elsevier Inc. All rights reserved.

  19. Flow cytogenetics and chromosome sorting.

    Science.gov (United States)

    Cram, L S

    1990-06-01

    This review of flow cytogenetics and chromosome sorting provides an overview of general information in the field and describes recent developments in more detail. From the early developments of chromosome analysis involving single parameter or one color analysis to the latest developments in slit scanning of single chromosomes in a flow stream, the field has progressed rapidly and most importantly has served as an important enabling technology for the human genome project. Technological innovations that advanced flow cytogenetics are described and referenced. Applications in basic cell biology, molecular biology, and clinical investigations are presented. The necessary characteristics for large number chromosome sorting are highlighted. References to recent review articles are provided as a starting point for locating individual references that provide more detail. Specific references are provided for recent developments.

  20. [Cytogenetic Abnormalities and Outcomes of 117 Patients with Multiple Myeloma Detected by FISH].

    Science.gov (United States)

    Zhai, Bing; Zou, Dan-Dan; Yan, Jian-Jun; Wang, Nan; Wang, Li-Li; Zhu, Hong-Li; Huang, Wen-Rong; Yu, Li

    2016-02-01

    To analyze the cytogenetic abnormalities and prognostic outcomes of patients with multiple myeloma (MM) detected by fluorescence in situ hybridization (FISH). The clinical record of 117 newly-diagnosed patients with MM treated in department of hematology and geriatric hematology of our hospital for 7 years were collected, and their molecular cytogenetic abnormalities detected by FISH and the clinical outcome were analyzed retrospectively. The detected rate of cytogenetic abnormality was 76.9%(90/117), the most common abnormality deteted by FISH was 1q21+ (71.1%), followed by 13q- (56.6%). The cross comparison method showed that 13q- and 17p13-, t(11;14) and t(4;14) were related respectively. All the patients with cytogenetic abnormalities showed no significant difference in the overall survival from cytogenetic normal patients. The positive rate of molecular cytogenetic abnormalities detected by FISH in MM patients is high, but data from larger and longer studies are needed to evaluate the prognostic outcomes.

  1. Cytogenetic prognostication within medulloblastoma subgroups.

    Science.gov (United States)

    Shih, David J H; Northcott, Paul A; Remke, Marc; Korshunov, Andrey; Ramaswamy, Vijay; Kool, Marcel; Luu, Betty; Yao, Yuan; Wang, Xin; Dubuc, Adrian M; Garzia, Livia; Peacock, John; Mack, Stephen C; Wu, Xiaochong; Rolider, Adi; Morrissy, A Sorana; Cavalli, Florence M G; Jones, David T W; Zitterbart, Karel; Faria, Claudia C; Schüller, Ulrich; Kren, Leos; Kumabe, Toshihiro; Tominaga, Teiji; Shin Ra, Young; Garami, Miklós; Hauser, Peter; Chan, Jennifer A; Robinson, Shenandoah; Bognár, László; Klekner, Almos; Saad, Ali G; Liau, Linda M; Albrecht, Steffen; Fontebasso, Adam; Cinalli, Giuseppe; De Antonellis, Pasqualino; Zollo, Massimo; Cooper, Michael K; Thompson, Reid C; Bailey, Simon; Lindsey, Janet C; Di Rocco, Concezio; Massimi, Luca; Michiels, Erna M C; Scherer, Stephen W; Phillips, Joanna J; Gupta, Nalin; Fan, Xing; Muraszko, Karin M; Vibhakar, Rajeev; Eberhart, Charles G; Fouladi, Maryam; Lach, Boleslaw; Jung, Shin; Wechsler-Reya, Robert J; Fèvre-Montange, Michelle; Jouvet, Anne; Jabado, Nada; Pollack, Ian F; Weiss, William A; Lee, Ji-Yeoun; Cho, Byung-Kyu; Kim, Seung-Ki; Wang, Kyu-Chang; Leonard, Jeffrey R; Rubin, Joshua B; de Torres, Carmen; Lavarino, Cinzia; Mora, Jaume; Cho, Yoon-Jae; Tabori, Uri; Olson, James M; Gajjar, Amar; Packer, Roger J; Rutkowski, Stefan; Pomeroy, Scott L; French, Pim J; Kloosterhof, Nanne K; Kros, Johan M; Van Meir, Erwin G; Clifford, Steven C; Bourdeaut, Franck; Delattre, Olivier; Doz, François F; Hawkins, Cynthia E; Malkin, David; Grajkowska, Wieslawa A; Perek-Polnik, Marta; Bouffet, Eric; Rutka, James T; Pfister, Stefan M; Taylor, Michael D

    2014-03-20

    Medulloblastoma comprises four distinct molecular subgroups: WNT, SHH, Group 3, and Group 4. Current medulloblastoma protocols stratify patients based on clinical features: patient age, metastatic stage, extent of resection, and histologic variant. Stark prognostic and genetic differences among the four subgroups suggest that subgroup-specific molecular biomarkers could improve patient prognostication. Molecular biomarkers were identified from a discovery set of 673 medulloblastomas from 43 cities around the world. Combined risk stratification models were designed based on clinical and cytogenetic biomarkers identified by multivariable Cox proportional hazards analyses. Identified biomarkers were tested using fluorescent in situ hybridization (FISH) on a nonoverlapping medulloblastoma tissue microarray (n = 453), with subsequent validation of the risk stratification models. Subgroup information improves the predictive accuracy of a multivariable survival model compared with clinical biomarkers alone. Most previously published cytogenetic biomarkers are only prognostic within a single medulloblastoma subgroup. Profiling six FISH biomarkers (GLI2, MYC, chromosome 11 [chr11], chr14, 17p, and 17q) on formalin-fixed paraffin-embedded tissues, we can reliably and reproducibly identify very low-risk and very high-risk patients within SHH, Group 3, and Group 4 medulloblastomas. Combining subgroup and cytogenetic biomarkers with established clinical biomarkers substantially improves patient prognostication, even in the context of heterogeneous clinical therapies. The prognostic significance of most molecular biomarkers is restricted to a specific subgroup. We have identified a small panel of cytogenetic biomarkers that reliably identifies very high-risk and very low-risk groups of patients, making it an excellent tool for selecting patients for therapy intensification and therapy de-escalation in future clinical trials.

  2. Current status of prenatal diagnosis in Cuba: causes of low prevalence of Down syndrome.

    Science.gov (United States)

    Méndez-Rosado, L A; Hechavarría-Estenoz, D; de la Torre, M E; Pimentel-Benitez, H; Hernández-Gil, J; Perez, B; Barrios-Martínez, A; Morales-Rodriguez, E; Soriano-Torres, M; Garcia, M; Suarez-Mayedo, U; Cedeño-Aparicio, N; Blanco, I; Díaz-Véliz, P; Vidal-Hernández, B; Mitjans-Torres, M; Miñoso, S; Alvarez-Espinosa, D; Reyes-Hernández, E; Angulo-Cebada, E; Torres-Palacios, M; Lozano-Lezcano, L; Lima-Rodriguez, U; Mayeta, M; Noblet, M; Benítez, Y; Lardoeyt-Ferrer, R; Yosela-Martin, S; Carbonell, P; Pérez-Ramos, M; de León, N; Perez, M; Carbonell, J

    2014-11-01

    To analyze trends in cytogenetic prenatal diagnosis in Cuba and to analyze possible causes leading to a low Down syndrome prevalence in a country where the triple test is not available. An analysis of the Cuban program in prenatal cytogenetic diagnosis from 1984 to 2012 was conducted. Results are described, with particular emphasis on indications, abnormal results, types of invasive procedures, and terminations of pregnancy. Cytogenetic prenatal diagnostic analyses (n = 75,095) were conducted; maternal age was the indication for 77.9% of the amniocenteses and chorionic villus samplings. The detection rate of chromosomally abnormal pregnancies was 2.3% for maternal age and increased to 8-9% for other indications. When a chromosomal abnormality was identified, 88.5% terminated the pregnancy. In 2002, the live birth prevalence of Down syndrome was 8.4 per 10,000 live births, and in 2012, 7 per 10,000. Prenatal diagnosis in Cuba has contributed to a significant reduction in chromosomal aberrations. The impact increased because of the demographic trends of the population, the high index of terminations of pregnancy, and the establishment of a network of cytogenetic laboratories throughout Cuba. © 2014 John Wiley & Sons, Ltd.

  3. [Cytogenetic and molecular genetic diagnosis of a neonate with partial 13q trisomy and partial 5p monosomy].

    Science.gov (United States)

    Xiao, Wenjun; Gao, Zhenkui; Meng, Qian; Zhang, Man

    2014-12-01

    To diagnose a neonate presenting with multiple dysmorphic features, Cri-du-chat signs and hypoglycemia and to correlate the phenotype with the genotype. The patient was diagnosed with conventional cytogenetics and real-time fluorescence quantitative PCR (QF-PCR). The phenotype was then correlated with the genotype through a review of literature. The neonate was diagnosed with a partial 13q trisomy (q12 → qter) and partial 5p monosomy (p15 →pter). A rare diagnosis has been established with combined cytogenetic and molecular genetic techniques. QF-PCR has a broad application in genetic diagnosis.

  4. Prenatal diagnosis of arachnoid cyst

    Directory of Open Access Journals (Sweden)

    Korkut Daglar

    2016-12-01

    Full Text Available Arachnoid cysts are rare, usually benign, space-occupying central nervous system lesion. They are the results of an accumulation of cerebrospinal-like fluid between the cerebral meninges and diagnosed prenatally as a unilocular, simple, echolucent area within the fetal head. They may be primary (congenital (maldevelopment of the meninges or secondary (acquired (result of infection trauma, or hemorrhage. The primary ones typically dont communicate with the subarachnoid space whereas acquired forms usually communicate. In recent years, with the development of radiological techniques, the clinical detectability of arachnoid cysts seems to have increased. We report a case of primary arachnoid cyst that were diagnosed prenatally by using ultrasonography and magnetic resonance imaging . [Cukurova Med J 2016; 41(4.000: 792-795

  5. Cytogenetics observation and radiation influence evaluation of exposed persons in a discontinuous radiation exposure event

    International Nuclear Information System (INIS)

    Chen Ying; Liu Xiulin; Yang Guoshan; Ge Shili; Jin Cuizhen; Yao Bo

    2003-01-01

    The cytogenetics results and dose estimation of exposed and related persons in an discontinuous radiation exposure event were reported in this paper. According to dicentrics + ring and micronucleus results combined with clinical data, slight (middle) degree of subacute radiation symptom of the victim was diagnosed. A part of 52 examined persons were exposed to radiation in a certain degree

  6. Cytogenetic and autoradiographic investigations in gonadal dysgenesis

    International Nuclear Information System (INIS)

    Baron, J.; Warenik-Szymankiewicz, A.; Medical Academy, Poznan

    1977-01-01

    Cytogenetic analysis in 23 patients with Turner's syndrome and in 33 women with pure gonadal dysgenesis consisted of sex chromatin determination and karyotype studies employing autoradiography in questionable cases. Here autoradiography is used as an indispensable complement to cytogenetic techniques. The labelling behaviour of aberrant chromosomes is described. After treatment of the autoradiographic films for more differentiation in results is employed

  7. Reporting of Diagnostic Cytogenetic Results.

    Science.gov (United States)

    Giersch, Anne B S; Bieber, Frederick R; Dubuc, Adrian M; Fletcher, Jonathan A; Ligon, Azra H; Mason-Suares, Heather; Morton, Cynthia C; Weremowicz, Stanislawa; Xiao, Sheng; Dal Cin, Paola

    2016-04-01

    This appendix, developed by the staff at the Center for Advanced Molecular Diagnostics in the Department of Pathology at the Brigham and Women's Hospital, includes a comprehensive list of current "macros" or standardized statements used to facilitate reporting of cytogenetic results. These are provided as a useful reference for other laboratories. The statements are organized under the general categories of constitutional or acquired abnormalities and subdivided into analysis type (GTG-banding, FISH, or chromosomal microarray). Multi-specimen usage macros are included that can be applied to two or more specimen types. Copyright © 2016 John Wiley & Sons, Inc.

  8. Control Prenatal

    Directory of Open Access Journals (Sweden)

    P. Susana Aguilera, DRA.

    2014-11-01

    Full Text Available Los principales objetivos del control prenatal son identificar aquellos pacientes de mayor riesgo, con el fin de realizar intervenciones en forma oportuna que permitan prevenir dichos riesgos y así lograr un buen resultado perinatal. Esto se realiza a través de la historia médica y reproductiva de la mujer, el examen físico, la realización de algunos exámenes de laboratorio y exámenes de ultrasonido. Además es importante promover estilos de vida saludables, la suplementación de ácido fólico, una consejería nutricional y educación al respecto.

  9. [Prenatal diagnosis. Review, personal and prospective studies].

    Science.gov (United States)

    Engel, E; Empson, J; DeLozier, D; McGee, B; da Costa Woodson, E; Engel-de Montmollin, M; Carter, T; Lorber, C; Cassidy, S B; Millis, J; Heller, R M; Boehm, F; Vanhooydonk, J

    1979-07-07

    instruments is particularly useful in cases where a severe fetal morphologic malformation cannot currently be identified by indirect visualization (ultrasound) or by analysis of cytogenetic or molecular markers. 6. Pathological accumulations of alpha-fetoprotein which are associated with diverse feto-placental abnormalities (particularly open malformations of the neural tube) can be detected in the amniotic fluid and/or maternal blood. In extension of this approach, it is foreseeable that conditions existing prenatally will be diagnosed in a growing number of cases from the study of fetal cells and molecules which can be isolated from the venous blood of pregnant women. This will become feasible as a result of some well-developed techniques which allow separation of fetal from maternal cells and metabolites, and also to some extremely fine analytic techniques, notably examination of the DNA itself by means of restriction enzymes.

  10. Prenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18(q10;q10del(18(q11.1q12.1del(18(q22.1q22.3 presenting as apparent isochromosome 18q in a fetus with holoprosencephaly

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2011-06-01

    Conclusion: Concomitant monosomy 18p and trisomy 18q can be associated with holoprosencephaly and abnormal maternal serum screening results. Array-comparative genomic hybridization, fluorescence in situ hybridization, and quantitative fluorescent polymerase chain reaction are useful in genetic counseling of prenatally detected isochromosomes by providing information on the origin and genetic components of the isochromosome.

  11. Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14

    Directory of Open Access Journals (Sweden)

    Javier Sánchez

    2012-01-01

    Full Text Available Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that include growth retardation, facial dysmorphia, hypotonia, seizures, and retinitis pigmentosa. Given that the majority of symptoms appear postnatally, few cases have been reported of prenatal diagnosis of mosaicism monosomy/ring chromosome 14. We describe the prenatal diagnosis of a case of chromosomal mosaicism, a cell line with ring chromosome 14, r(14, and a second cell line with monosomy 14, in a fetus with aortic coarctation and chamber asymmetry. This is the first case of a prenatal diagnosis associating mosaicism with ring chromosome 14, monosomy 14, and fetal cardiopathy. We identified the exact breakpoint in ring chromosome 14 in IGH locus, which may provide further insight into the mode of ring formation as well as prenatal findings.

  12. Cytogenetic diagnosis of Roberts SC phocomelia syndrome: First report from Kashmir

    Directory of Open Access Journals (Sweden)

    Tahir M. Malla

    2016-01-01

    Full Text Available There are several syndromes in which specific mitotic chromosomal abnormalities can be seen, like premature centromere separation, premature (sister chromatid separation, and somatic aneuploidies. Identifications of such specific cytogenetic findings can be the key factor that leads towards the diagnosis of syndromes like Roberts SC phocomelia. The case presented here as Roberts SC phocomelia syndrome was identified as a child with multiple congenital anomalies and dysmorphic features. Conventional cytogenetic analysis of the case revealed premature sister chromatid separation. The premature centromeric separation was also confirmed by C banding analysis of the child. It is the first and the only case of Roberts SC phocomelia diagnosed from this part of the world. The present case report emphasizes the importance of conventional cytogenetics in the diagnosis of such syndromes.

  13. Prenatal sonographic findings of Beckwith-Wiedemann syndrome: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Yoon, Won Sang; Lee, Jee Young; Lee, Yeon Hee [Dankook University Hospital, Chonan (Korea, Republic of)

    2000-03-15

    The Backwith-Wiedemann syndrome (BWS) is and unusual complex with variable clinical features. Major findings included defects in the abdominal wall, macroglossia and macrosomia. These features should be amenable to prenatal ultrasound detection. Serious complications are possible in the neonatal period, which may result from the hypoglycemia or the airway obstruction due to macroglossia. Accurate prenatal diagnosis allows optimum prenatal care and prevention of serious complications. We report a case of prenatally diagnosed BWS with omphalocele, macroglossia, nephromegaly and hepatic cyst.

  14. Prenatal sonographic findings of Beckwith-Wiedemann syndrome: A case report

    International Nuclear Information System (INIS)

    Yoon, Won Sang; Lee, Jee Young; Lee, Yeon Hee

    2000-01-01

    The Backwith-Wiedemann syndrome (BWS) is and unusual complex with variable clinical features. Major findings included defects in the abdominal wall, macroglossia and macrosomia. These features should be amenable to prenatal ultrasound detection. Serious complications are possible in the neonatal period, which may result from the hypoglycemia or the airway obstruction due to macroglossia. Accurate prenatal diagnosis allows optimum prenatal care and prevention of serious complications. We report a case of prenatally diagnosed BWS with omphalocele, macroglossia, nephromegaly and hepatic cyst.

  15. Molecular cytogenetics for acute megakaryocytic leukemia diagnosis

    Directory of Open Access Journals (Sweden)

    E. A. Matveeva

    2014-07-01

    Full Text Available Acute megakaryocytic leukemia (AML M7 – a rare disease characterized by poor treatment response, except for t(1;22 variant in infants. Cytogenetic abnormalities in AML M7 are highly heterogeneous. We collected samples from children with AML M7 to analyze the disease cytogenetic profile. During September 2009 to March 2012 20 AML M7 patients was studied using fluorescence in situ hybridization. Complex and heterogeneous chromosomal abnormalities were revealed. It was found that no recurring abnormalities and cytogenetic markers unique to each patients. Also, the 19p13 amplification described previously only in myeloid cell lines was detected.

  16. Molecular cytogenetics for acute megakaryocytic leukemia diagnosis

    Directory of Open Access Journals (Sweden)

    E. A. Matveeva

    2012-01-01

    Full Text Available Acute megakaryocytic leukemia (AML M7 – a rare disease characterized by poor treatment response, except for t(1;22 variant in infants. Cytogenetic abnormalities in AML M7 are highly heterogeneous. We collected samples from children with AML M7 to analyze the disease cytogenetic profile. During September 2009 to March 2012 20 AML M7 patients was studied using fluorescence in situ hybridization. Complex and heterogeneous chromosomal abnormalities were revealed. It was found that no recurring abnormalities and cytogenetic markers unique to each patients. Also, the 19p13 amplification described previously only in myeloid cell lines was detected.

  17. Prenatal Care Checkup

    Science.gov (United States)

    ... Careers Archives Health Topics Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ... Report Cards Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ...

  18. The cytogenetic damage in gynaecological cancer patients during radiotherapy. The variability of cytogenetic response to irradiation

    International Nuclear Information System (INIS)

    Vyinnyikov, V.A.; Maznik, N.A.; Sipko, T.C.; Pshenyichna, N.D.

    2013-01-01

    The limits of cytogenetic changes in blood lymphocytes of gynecological cancer patients undergoing radiotherapy and assessment the individual variability of the kinetics of chromosome aberration yields depending on treatment schemes was evaluated. Cytogenetic study was carried out in 53 female patients with uterine cancer. For the first time in vivo aberration yields were compared in the representational groups of gynecological cancer patients undergoing telegammatherapy, intracavitary brachytherapy or their combination; the limits of cytogenetic changes were evaluated and the magnitude of the individual variability of kinetics of cytogenetic damage yield was assessed depending on the scheme of therapeutic irradiation

  19. Ovarian cysts on prenatal MRI

    International Nuclear Information System (INIS)

    Nemec, Ursula; Nemec, Stefan F.; Bettelheim, Dieter; Brugger, Peter C.; Horcher, Ernst; Schöpf, Veronika; Graham, John M.; Rimoin, David L.; Weber, Michael; Prayer, Daniela

    2012-01-01

    Objective: Ovarian cysts are the most frequently encountered intra-abdominal masses in females in utero. They may, at times, require perinatal intervention. Using magnetic resonance imaging (MRI) as an adjunct to ultrasonography (US) in prenatal diagnosis, we sought to demonstrate the ability to visualize ovarian cysts on prenatal MRI. Materials and methods: This retrospective study included 17 fetal MRI scans from 16 female fetuses (23–37 gestational weeks) with an MRI diagnosis of ovarian cysts after suspicious US findings. A multiplanar MRI protocol was applied to image and to characterize the cysts. The US and MRI findings were compared, and the prenatal findings were compared with postnatal imaging findings or histopathology. Results: Simple ovarian cysts were found in 10/16 cases and complex cysts in 7/16 cases, including one case with both. In 11/16 (69%) cases, US and MRI diagnoses were in agreement, and, in 5/16 (31%) cases, MRI specified or expanded the US diagnosis. In 6/16 cases, postnatal US showed that the cysts spontaneously resolved or decreased in size, and in 1/16 cases, postnatal imaging confirmed a hemorrhagic cyst. In 4/16 cases, the prenatal diagnoses were confirmed by surgery/histopathology, and for the rest, postnatal correlation was not available. Conclusion: Our results illustrate the MRI visualization of ovarian cysts in utero. In most cases, MRI will confirm the US diagnosis. In certain cases, MRI may provide further diagnostic information, additional to US, which is the standard technique for diagnosis, monitoring, and treatment planning.

  20. Ovarian cysts on prenatal MRI

    Energy Technology Data Exchange (ETDEWEB)

    Nemec, Ursula [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Nemec, Stefan F., E-mail: stefan.nemec@meduniwien.ac.at [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, PACT Suite 400, Los Angeles, CA 90048 (United States); Bettelheim, Dieter [Department of Obstetrics and Gynaecology, Division of Prenatal Diagnosis and Therapy, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Brugger, Peter C. [Center of Anatomy and Cell Biology, Integrative Morphology Group, Medical University Vienna, Waehringerstrasse 13, A-1090 Vienna (Austria); Horcher, Ernst [Department of Pediatric Surgery, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Schoepf, Veronika [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Graham, John M.; Rimoin, David L. [Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, PACT Suite 400, Los Angeles, CA 90048 (United States); Weber, Michael; Prayer, Daniela [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria)

    2012-08-15

    Objective: Ovarian cysts are the most frequently encountered intra-abdominal masses in females in utero. They may, at times, require perinatal intervention. Using magnetic resonance imaging (MRI) as an adjunct to ultrasonography (US) in prenatal diagnosis, we sought to demonstrate the ability to visualize ovarian cysts on prenatal MRI. Materials and methods: This retrospective study included 17 fetal MRI scans from 16 female fetuses (23-37 gestational weeks) with an MRI diagnosis of ovarian cysts after suspicious US findings. A multiplanar MRI protocol was applied to image and to characterize the cysts. The US and MRI findings were compared, and the prenatal findings were compared with postnatal imaging findings or histopathology. Results: Simple ovarian cysts were found in 10/16 cases and complex cysts in 7/16 cases, including one case with both. In 11/16 (69%) cases, US and MRI diagnoses were in agreement, and, in 5/16 (31%) cases, MRI specified or expanded the US diagnosis. In 6/16 cases, postnatal US showed that the cysts spontaneously resolved or decreased in size, and in 1/16 cases, postnatal imaging confirmed a hemorrhagic cyst. In 4/16 cases, the prenatal diagnoses were confirmed by surgery/histopathology, and for the rest, postnatal correlation was not available. Conclusion: Our results illustrate the MRI visualization of ovarian cysts in utero. In most cases, MRI will confirm the US diagnosis. In certain cases, MRI may provide further diagnostic information, additional to US, which is the standard technique for diagnosis, monitoring, and treatment planning.

  1. Cytogenetics of Legumes in the Phaseoloid Clade

    Directory of Open Access Journals (Sweden)

    Aiko Iwata

    2013-11-01

    Full Text Available Cytogenetics played an essential role in studies of chromosome structure, behavior, and evolution in numerous plant species. The advent of molecular cytogenetics combined with recent development of genomic resources has ushered in a new era of chromosome studies that have greatly advanced our knowledge of karyotypic diversity, genome and chromosome organization, and chromosomal evolution in legumes. This review summarizes some of the achievements of cytogenetic studies in legumes in the Phaseoloid clade, which includes several important legume crops such as common bean ( L., cowpea [ (L. Walp.], soybean [ (L. Merr.], and pigeonpea [ (L. Huth]. In the Phaseoloid clade, karyotypes are mostly stable. There are, however, several species with extensive chromosomal changes. Fluorescence in situ hybridization has been useful to reveal chromosomal structure by physically mapping transposons, satellite repeats, ribosomal DNA genes, and bacterial artificial chromosome clones onto chromosomes. Polytene chromosomes, which are much longer than the mitotic chromosomes, have been successfully found and used in cytogenetic studies in some and species. Molecular cytogenetics will continue to be an important tool in legume genetics and genomics, and we discuss future applications of molecular cytogenetics to better understand chromosome and genome structure and evolution in legumes.

  2. [Progress of cytogenetic detection in myelodysplastic syndromes].

    Science.gov (United States)

    Zhou, Qing-Bing; Hu, Xiao-Mei; Liu, -Feng; Ma, Rou

    2011-12-01

    In recent years, significant progresses have been got in study on pathogenesis, treatment and prognosis of myelodysplastic syndromes (MDS), especially on use of new technology, that has great importance for cytogenetics of MDS. Recently, the progress of cytogenetic detection in MDS is very remarkable. Based on the metaphase cytogenetics (MC) method, prognostic significance of cytogenetics in MDS was clarified gradually. For example, people have known the prognostic significance of 12 p-, 11 q-, +21, t(11(q23)), although these genetic abnormalities are rare in the MDS. In addition, chromosome mutation emerged in the process of MDS may indicate the poor prognosis. On the other hand, with the use of SNP-A and aCGH in the study of genetics, MDS cytogenetic abnormality detection rate has been further improved and can reach to 78%. At the same time, some of MDS patients with the "normal karyotype" detected by MC have new hidden aberrations through the SNP or CGH detection, and these patients have a poorer prognosis. In this review, the advances of study on cytogenetic detection for MDS based on MC and SNP-A or aCGH methods are summarized.

  3. Prenatal ultrasonographic findings of cloacal anomaly

    Energy Technology Data Exchange (ETDEWEB)

    Song, Mi Jin [Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2002-09-15

    To evaluate the ultrasonographic characteristic of a rare malformation comples, Cloacal anomaly on prenatal ultrasonography. From March 1991 to July 2001, eight cases with the persistent cloaca (4 cases in female and 1 case in male) and cloacal exstrophy (3 cases) diagnosed by prenatal ultrasound examination were included, and all of them were pathologically confirmed by autopsy. One radiologist retrospectively analyzed the prenatal sonographic images, including the urinary bladder, kidney, pelvic cyst, abdominal wall defect and amount of amniotic fluid. The ultrasonographic diagnosis was established at 21.8 {+-} 7.8 weeks of gestation. The prenatal ultrasonographic findings of the persistent cloaca were absent bladder (n=2), distended bladder (n=2) and small thick bladder (n=1). Sonography of the kidney showed normal (n=2), hydronephrosis (n=1), dysplasia (n=1) and unilateral hydronephrosis with absent contralateral kidney (n=1). Four fetuses showed septated pelvic cyst; three fetuses, oligohydramnios. The prenatal ultrasonographic findings of cloacal exstrophy included absent bladder (n=3), normal kidney (n=1), hydronephrosis (n=1) and absent kidney (n=1). All fetuses with cloacal exstrophy had abdominal wall defect while two of them had oligohydramnios. A prenatal diagnosis of persistent cloaca can be confidently made when there is septated pelvic cyst combined oligohydramnios, sediments within the cyst and intraluminal calcifications. Cloacal exstrophy should be included in diagnosis if there is a low abdominal wall defect with absent urinary bladder.

  4. Prenatal ultrasonographic findings of cloacal anomaly

    International Nuclear Information System (INIS)

    Song, Mi Jin

    2002-01-01

    To evaluate the ultrasonographic characteristic of a rare malformation comples, Cloacal anomaly on prenatal ultrasonography. From March 1991 to July 2001, eight cases with the persistent cloaca (4 cases in female and 1 case in male) and cloacal exstrophy (3 cases) diagnosed by prenatal ultrasound examination were included, and all of them were pathologically confirmed by autopsy. One radiologist retrospectively analyzed the prenatal sonographic images, including the urinary bladder, kidney, pelvic cyst, abdominal wall defect and amount of amniotic fluid. The ultrasonographic diagnosis was established at 21.8 ± 7.8 weeks of gestation. The prenatal ultrasonographic findings of the persistent cloaca were absent bladder (n=2), distended bladder (n=2) and small thick bladder (n=1). Sonography of the kidney showed normal (n=2), hydronephrosis (n=1), dysplasia (n=1) and unilateral hydronephrosis with absent contralateral kidney (n=1). Four fetuses showed septated pelvic cyst; three fetuses, oligohydramnios. The prenatal ultrasonographic findings of cloacal exstrophy included absent bladder (n=3), normal kidney (n=1), hydronephrosis (n=1) and absent kidney (n=1). All fetuses with cloacal exstrophy had abdominal wall defect while two of them had oligohydramnios. A prenatal diagnosis of persistent cloaca can be confidently made when there is septated pelvic cyst combined oligohydramnios, sediments within the cyst and intraluminal calcifications. Cloacal exstrophy should be included in diagnosis if there is a low abdominal wall defect with absent urinary bladder.

  5. Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature

    Directory of Open Access Journals (Sweden)

    Sifakis Stavros

    2012-02-01

    Full Text Available Abstract Wolf-Hirschhorn syndrome (WHS is a well known genetic condition caused by a partial deletion of the short arm of chromosome 4. The great variability in the extent of the 4p deletion and the possible contribution of additional genetic rearrangements lead to a wide spectrum of clinical manifestations. The majority of the reports of prenatally diagnosed WHS cases are associated with large 4p deletions identified by conventional chromosome analysis; however, the widespread clinical use of novel molecular techniques such as array comparative genomic hybridization (a-CGH has increased the detection rate of submicroscopic chromosomal aberrations associated with WHS phenotype. We provide a report of two fetuses with WHS presenting with intrauterine growth restriction as an isolated finding or combined with oligohydramnios and abnormal Doppler waveform in umbilical artery and uterine arteries. Standard karyotyping demonstrated a deletion on chromosome 4 in both cases [del(4(p15.33 and del(4(p15.31, respectively] and further application of a-CGH confirmed the diagnosis and offered a precise characterization of the genetic defect. A detailed review of the currently available literature on the prenatal diagnostic approach of WHS in terms of fetal sonographic assessment and molecular cytogenetic investigation is also provided.

  6. Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype.

    Science.gov (United States)

    Beaujard, M-P; Jouannic, J-M; Bessières, B; Borie, C; Martin-Luis, I; Fallet-Bianco, C; Portnoï, M-F

    2005-06-01

    To present the prenatal diagnosis of a de novo terminal inversion duplication of the short arm of chromosome 4 and a review of the literature. An amniocentesis for chromosome analysis was performed at 33 weeks' gestation because ultrasound examination showed a female fetus with multiple abnormalities consisting of severe intrauterine growth retardation, microcephaly, a cleft lip and renal hypoplasia. Cytogenetic analysis and FISH studies of the cultured amniocytes revealed a de novo terminal inversion duplication of the short arm of chromosome 4 characterized by a duplication of 4p14-p16.1 chromosome region concomitant with a terminal deletion 4p16.1-pter. The karyotype was thus: 46,XX, inv dup del (4)(:p14-->p16.1::p16.1-->qter). The parents opted to terminate the pregnancy. Fetopathological examination showed dysmorphic features and abnormalities consistent with a Wolf-Hirschhorn syndrome (WHS) diagnosis, clinical manifestations of partial 4p trisomy being mild. Although relatively rare, inverted duplications have been reported repeatedly in an increasing number of chromosomes. Only two previous cases with de novo inv dup del (4p) and one with tandem dup 4p have been reported, all of them associated with a 4pter deletion. We report the first case diagnosed prenatally. Breakpoints are variable, resulting in different abnormal phenotype. In our case, clinical manifestations resulted in a WHS phenotype.

  7. The first case of Horn Kolb Syndrome in Turkey, diagnosed prenatally at the 23(rd) week of a pregnancy: A very rare and unusual case far from the original geography.

    Science.gov (United States)

    Temur, Ismail; Ulker, Kahraman; Volkan, Islim; Karaca, Mehmet; Ersoz, Mustafa; Gul, Abdulaziz; Adiguzel, Esat

    2012-01-01

    The aim of this report was to evaluate and announce the first documented appearance of Horn Kolb syndrome in Turkey. Acheiropodia (Horn Kolb Syndrome) is the bilateral congenital amputation of the distal parts of the 4 extremities. It is an autosomal recessive developmental disorder. The characteristic features are amputation of the upper and lower extremities with aplasia of the hands and feet. The disorder affects only the extremities without other systemic manifestations. In this report, we present the first known case of Horn Kolb syndrome in Turkey, along with the diagnostic features. Severe dysmorphic skeletal anomalies should be excluded as soon as the earlier gestational weeks in every pregnancy by visualizing all 4 limbs of the fetus in routine prenatal ultrasound screening.

  8. The Cerrado (Brazil) plant cytogenetics database.

    Science.gov (United States)

    Roa, Fernando; Telles, Mariana Pires de Campos

    2017-01-01

    Cerrado is a biodiversity hotspot that has lost ca. 50% of its original vegetation cover and hosts ca. 11,000 species belonging to 1,423 genera of phanerogams. For a fraction of those species some cytogenetic characteristics like chromosome numbers and C-value were available in databases, while other valuable information such as karyotype formula and banding patterns are missing. In order to integrate and share all cytogenetic information published for Cerrado species, including frequency of cytogenetic attributes and scientometrics aspects, Cerrado plant species were searched in bibliographic sources, including the 50 richest genera (with more than 45 taxa) and 273 genera with only one species in Cerrado. Determination of frequencies and the database website (http://cyto.shinyapps.io/cerrado) were developed in R. Studies were pooled by employed technique and decade, showing a rise in non-conventional cytogenetics since 2000. However, C-value estimation, heterochromatin staining and molecular cytogenetics are still not common for any family. For the richest and best sampled families, the following modal 2n counts were observed: Oxalidaceae 2n = 12, Lythraceae 2n = 30, Sapindaceae 2n = 24, Solanaceae 2n = 24, Cyperaceae 2n = 10, Poaceae 2n = 20, Asteraceae 2n = 18 and Fabaceae 2n = 26. Chromosome number information is available for only 16.1% of species, while there are genome size data for only 1.25%, being lower than the global percentages. In general, genome sizes were small, ranging from 2C = ca. 1.5 to ca. 3.5 pg. Intra-specific 2n number variation and higher 2n counts were mainly related to polyploidy, which relates to the prevalence of even haploid numbers above the mode of 2n in most major plant clades. Several orphan genera with almost no cytogenetic studies for Cerrado were identified. This effort represents a complete diagnosis for cytogenetic attributes of plants of Cerrado.

  9. The Cerrado (Brazil plant cytogenetics database

    Directory of Open Access Journals (Sweden)

    Fernando Roa

    2017-04-01

    Full Text Available Cerrado is a biodiversity hotspot that has lost ca. 50% of its original vegetation cover and hosts ca. 11,000 species belonging to 1,423 genera of phanerogams. For a fraction of those species some cytogenetic characteristics like chromosome numbers and C-value were available in databases, while other valuable information such as karyotype formula and banding patterns are missing. In order to integrate and share all cytogenetic information published for Cerrado species, including frequency of cytogenetic attributes and scientometrics aspects, Cerrado plant species were searched in bibliographic sources, including the 50 richest genera (with more than 45 taxa and 273 genera with only one species in Cerrado. Determination of frequencies and the database website (http://cyto.shinyapps.io/cerrado were developed in R. Studies were pooled by employed technique and decade, showing a rise in non-conventional cytogenetics since 2000. However, C-value estimation, heterochromatin staining and molecular cytogenetics are still not common for any family. For the richest and best sampled families, the following modal 2n counts were observed: Oxalidaceae 2n = 12, Lythraceae 2n = 30, Sapindaceae 2n = 24, Solanaceae 2n = 24, Cyperaceae 2n = 10, Poaceae 2n = 20, Asteraceae 2n = 18 and Fabaceae 2n = 26. Chromosome number information is available for only 16.1% of species, while there are genome size data for only 1.25%, being lower than the global percentages. In general, genome sizes were small, ranging from 2C = ca. 1.5 to ca. 3.5 pg. Intra-specific 2n number variation and higher 2n counts were mainly related to polyploidy, which relates to the prevalence of even haploid numbers above the mode of 2n in most major plant clades. Several orphan genera with almost no cytogenetic studies for Cerrado were identified. This effort represents a complete diagnosis for cytogenetic attributes of plants of Cerrado.

  10. Prenatal intestinal volvulus: look for cystic fibrosis.

    Science.gov (United States)

    Chouikh, Taieb; Mottet, Nicolas; Cabrol, Christelle; Chaussy, Yann

    2016-12-21

    Intestinal volvulus is a life-threatening emergency requiring prompt surgical management. Prenatal intestinal volvulus is rare, and most are secondary to intestinal atresia, mesenteric defect or without any underlying cause. Cystic fibrosis (CF) is known to cause digestive tract disorders. After birth, 10-15% of newborns with CF may develop intestinal obstruction within a few days of birth because of meconial ileus. 1 This obstruction is a result of dehydrated thickened meconium obstructing the intestinal lumen. We report two cases of fetuses with prenatal diagnosis of segmental volvulus in whom CF was diagnosed. 2016 BMJ Publishing Group Ltd.

  11. Advanced molecular and cytogenetic technologies in birth defect diagnosis and prevention%分子和细胞遗传学新技术在出生缺陷诊断及防治中的应用

    Institute of Scientific and Technical Information of China (English)

    Marilyn M. LI

    2005-01-01

    SUMMARY Fluorescence in situ hybridization (FISH) has become an important diagnostic tool as an adjunct to classical cytogenetics. FISH utilizes DNA probes comprised of specific nucleic acid sequences tagged with fluorescent molecules to identify the number and location of specific DNA sequences in human cells. These probes can be used to determine various numerical and structural chromosomal aberrations, in many cases, gene dosage and/or structure alterations. Chromosomal abnormalities are responsible for a considerable number of birth defects, and more than 50% of spontaneous abortions. These numbers have been significantly higher since the advent of FISH technology that allows the detection of submicroscopic chromosome alterations. The clinic application of FISH technology in postnatal, prenatal, and preimplantation diagnoses has been playing an important role in the diagnosis and prevention of birth defects. As new technologies evolve, more and more new FISH techniques - such as subtelomeric FISH, multicolor FISH (M-FISH), comparative genomic hybridization (CGH), and microarray - are used in clinical diagnoses, the role of FISH technology in both research and clinical aspects of birth defects will surely continue to expand.

  12. Physical location of SSR regions and cytogenetic instabilities in ...

    Indian Academy of Sciences (India)

    2014-08-18

    Aug 18, 2014 ... RESEARCH NOTE. Physical location of SSR regions and cytogenetic instabilities in Pinus ... first cytogenetic study in Scots pine using SSRs in FISH experiments. ... Science, Mannheim, Germany) according to manufacturer's.

  13. Diagnóstico Prenatal

    OpenAIRE

    López, Jaime Octavio; Saldarriaga, Wilmar; Fundación Valle de Lili

    2010-01-01

    Diagnóstico Prenatal/ propósitos del diagnóstico prenatal/ Tamizaje a partir del Control Prenatal/ Pacientes de bajo riesgo/ Tamizaje bioquímico/ Pacientes de alto riesgo/ Pruebas invasivas y no invasivas

  14. Preconception Care and Prenatal Care

    Science.gov (United States)

    ... Twitter Pinterest Email Print About Preconception Care and Prenatal Care What is preconception care? Preconception care is the ... improve the health of your child. What is prenatal care? Prenatal care is the health care a woman ...

  15. Group prenatal care.

    Science.gov (United States)

    Mazzoni, Sara E; Carter, Ebony B

    2017-06-01

    Patients participating in group prenatal care gather together with women of similar gestational ages and 2 providers who cofacilitate an educational session after a brief medical assessment. The model was first described in the 1990s by a midwife for low-risk patients and is now practiced by midwives and physicians for both low-risk patients and some high-risk patients, such as those with diabetes. The majority of literature on group prenatal care uses CenteringPregnancy, the most popular model. The first randomized controlled trial of CenteringPregnancy showed that it reduced the risk of preterm birth in low-risk women. However, recent meta-analyses have shown similar rates of preterm birth, low birthweight, and neonatal intensive care unit admission between women participating in group prenatal care and individual prenatal care. There may be subgroups, such as African Americans, who benefit from this type of prenatal care with significantly lower rates of preterm birth. Group prenatal care seems to result in increased patient satisfaction and knowledge and use of postpartum family planning as well as improved weight gain parameters. The literature is inconclusive regarding breast-feeding, stress, depression, and positive health behaviors, although it is theorized that group prenatal care positively affects these outcomes. It is unclear whether group prenatal care results in cost savings, although it may in large-volume practices if each group consists of approximately 8-10 women. Group prenatal care requires a significant paradigm shift. It can be difficult to implement and sustain. More randomized trials are needed to ascertain the true benefits of the model, best practices for implementation, and subgroups who may benefit most from this innovative way to provide prenatal care. In short, group prenatal care is an innovative and promising model with comparable pregnancy outcomes to individual prenatal care in the general population and improved outcomes in some

  16. Review: Petra Fosen-Schlichtinger (2002. Über die gesellschaftspolitische Bedeutung von Pränataldiagnostik und künstlicher Befruchtung [The Social and Political Importance of Prenatal Diagnoses and in vitro Fertilization}

    Directory of Open Access Journals (Sweden)

    Torsten Junge

    2005-01-01

    Full Text Available This volume deals with reproductive medicine, offspring and the social perception of disability. The family and its offspring have become, in modern times, a project for individual life-planning. A child promises a certain social status, particularly if s/he conforms to society's ideal of a competitive child. Due to its peculiarity, the "special" (namely disabled, child poses various barriers and challenges for the parents and the environment. The social climate, therefore, does not sufficiently expose the possibility of disability in offspring. Developing medical technologies, through prenatal medicine or artificial insemination, provide ways for individuals to actively participate in the shaping of one's offspring and to turn "off" disability. The book aims (1 to outline the historical, political and cultural contexts of pregnancy, birth and offspring in modern society by means of socio-philosophical, modern theoretical and psychoanalytical arguments, and (2 to make the analysis of the current circumstances productive. The theoretical argument is complemented by the description of medical technical procedures, their risks and potential. The practical side is strengthened by interviews with clinicians from the reproductive medicine sector. The plethora of the study's various elements is not classifiable at first sight and a stronger and more concise list of contents would have been desirable. Despite this small weakness, the volume provides an informative overview about the role and meaning of procedures in reproductive medicine within specific social contexts. URN: urn:nbn:de:0114-fqs050175

  17. Cytogenetic and morphological assessment of bone marrow in therapeutic irradiation

    International Nuclear Information System (INIS)

    Sharma, U.; Das, B.P.; Singhal, R.M.; Radhakrishnaiah, Y.; Rath, G.K.; Padmaraju, I.; Bhargava, V.L.

    1978-01-01

    Morphological and cytogenetic study from the irradiated bone marrow, in 59 cases of radically irradiated carcinoma cervix was done. Regeneration of a marrow adjudged on cellular morphology was after 12 months whereas cytogenetic studies revealed it at the end of three months. It is concluded that cytogenetic study is a more sensitive parameter in assessing the recovery of bone marrow. (author)

  18. Prenatal diagnosis and perinatal management of congenital hydrocephalus using MRI

    International Nuclear Information System (INIS)

    Hamada, Hiromi; Koresawa, Mitsuhiko; Kubo, Takeshi

    1990-01-01

    We studied congenital hydrocephalus in 14 patients who were diagnosed prenatally. As a result, we obtained the following insights concerning the prenatal diagnosis by MRI (magnetic resonance imaging) and perinatal management of congenital hydrocephalus. Accurate diagnosis of congenital hydrocephalus was impossible prenatally by two-dimensional ultrasonography or computed tomography alone in some patients. MRI was useful for accurate prenatal diagnosis. Problem of MRI in prenatal diagnosis included deterioration of the image by fetal movements and safety concern over the fetus. The cause of hydrocephalus, complicated anomaly, cerebral cortical thickness, and gestational age must be considered in the perinatal management of congenital hydrocephalus. There appeared to be a chance of recovery to a certain extent from thinning of cerebral cortex by decompression in a patient in whom dilation of cerebral ventricles progressed rapidly. (author)

  19. Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly.

    Science.gov (United States)

    Victorine, Anna S; Weida, Jennifer; Hines, Karrie A; Robinson, Barrett; Torres-Martinez, Wilfredo; Weaver, David D

    2014-03-01

    Carpenter syndrome is an autosomal recessive disorder comprising craniosynostosis, polysyndactyly, and brachydactyly. It occurs in approximately 1 birth per million. We present a patient with Carpenter syndrome (confirmed by molecular diagnosis) who has several unique and previously unreported manifestations including a large ovarian cyst and heterotaxy with malrotation of stomach, intestine, and liver. These findings were first noted by prenatal ultrasound and may assist in prenatally diagnosing additional cases of Carpenter syndrome. © 2014 Wiley Periodicals, Inc.

  20. Cytogenetics of Festulolium (Festuca x Lolium hybrids).

    Science.gov (United States)

    Kopecký, D; Lukaszewski, A J; Dolezel, J

    2008-01-01

    Grasses are the most important and widely cultivated crops. Among them, ryegrasses (Lolium spp.) and fescues (Festuca spp.) provide high quality fodder for livestock, are used for turf and amenity purposes, and play a fundamental role in environment protection. Species from the two genera display complementary agronomic characteristics and are often grown in mixtures. Breeding efforts to combine desired features in single entities culminated with the production of Festuca x Lolium hybrids. The so called Festuloliums enjoy a considerable commercial success with numerous cultivars registered all over the world. They are also very intriguing from a strictly cytogenetic point of view as the parental chromosomes recombine freely in hybrids. Until a decade ago this phenomenon was only known in general quantitative terms. The introduction of molecular cytogenetic tools such as FISH and GISH permitted detailed studies of intergeneric chromosome recombination and karyotyping of Festulolium cultivars. These tools were also invaluable in revealing the origin of polyploid fescues, and facilitated the development of chromosome substitution and introgression lines and physical mapping of traits of interest. Further progress in this area will require the development of a larger set of cytogenetic markers and high-resolution cytogenetic maps. It is expected that the Lolium-Festuca complex will continue providing opportunities for breeding superior grass cultivars and the complex will remain an attractive platform for fundamental research of the early steps of hybrid speciation and interaction of parental genomes, as well as the processes of chromosome pairing, elimination and recombination. 2008 S. Karger AG, Basel

  1. Cytogenetic activity of the coumarin glucoside seseloside

    International Nuclear Information System (INIS)

    Arshava, E.A.

    1986-01-01

    The cytogenetic effect of the coumarin glucoside seseloside on plant objects was studied. It was established that low concentrations of the preparation (from 1 x 10 -5 to 1 x 10 -3 μg/ml) inhibit both spontaneous and radiation-induced mutagenesis. The effect of high concentrations (10 and 100 μg/ml) causes a mutagenic effect

  2. Roberts syndrome: clinical and cytogenetic aspects

    OpenAIRE

    Mann, N P; Fitzsimmons, J; Fitzsimmons, E; Cooke, P

    1982-01-01

    Roberts syndrome is reported in two sibs of consanguineous parents. Both infants had severe tetraphocomelia, facial clefting, and other serious malformations. In addition they were found to have an unusual cytogenetic abnormality with distortion of the normal sister chromatid relationship in many chromosomes.

  3. Molecular cytogenetic identification of a wheat– Thinopyrum ...

    Indian Academy of Sciences (India)

    Thinopyrum ponticum (2n = 70) serves as a valuable gene pool for wheat improvement. Line SN0224, derived from crosses between Th. ponticum and the common wheat cultivar Yannong15, was identified in the present study. Cytogenetic observations showed that SN0224 contains 42 chromosomes in the root-tip cells ...

  4. Cytogenetics of jaw cysts - a pilot study.

    Science.gov (United States)

    Manor, Esther; Brennan, Peter A; Bodner, Lipa

    2012-07-01

    The pathogenesis of cysts that arise in the jaws is still not certain, and the underlying mechanisms of epithelial proliferation are not fully understood. Cysts of the jaw may involve a reactive, inflammatory, or neoplastic process. Cytogenetics, the study of the number and structure of chromosomes, has provided valuable information about the diagnosis, prognosis, and targeted treatment in many cancers, including oral squamous cell carcinoma. Cytogenetics can also provide information about the possible aetiology or neoplastic potential of a lesion, though to our knowledge no studies of this technique have been used for cysts in the jaws. In this pilot study we used cytogenetics in a series of 10 cysts (3 radicular, 4 dentigerous, 2 of the nasopalatine duct, and 1 dermoid). In all cases we found normal karyotypes. Further work and larger numbers are needed for a definitive study, but we can hypothesise from this pilot study that these cysts do not have cytogenetic aberrations and so have no neoplastic potential. Copyright © 2011 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  5. Significance of molecular-cytogenetic aberrations for the achievement of first remission in de novo acute myeloid leukemia

    Directory of Open Access Journals (Sweden)

    Boriana M. Zaharieva

    2008-12-01

    Full Text Available OBJECTIVE: The majority of adults diagnosed with acute myeloid leukemia (AML display acquired cytogenetic aberrations at presentation. In this article, we present the major cytogenetic findings regarding AML and review their clinical significance for achievement of the first complete remission.METHODS: We studied 71 adult patients with de novo AML, without previous myelodysplasia or alkylating therapy. Conventional cytogenetics and FISH were performed on bone marrow cells. The patients with AML were assigned to 12 subgroups according to established data for cytogenetic, molecular and general laboratory results. The selection of the analyzed parameters is consistent with internationally accepted “prognostic factors” in adult AML.RESULTS: Complete remission upon induction therapy was achieved in 40% of cases (in a mean period of 2.3 months from therapy initiation. The patients with t(15;17 PML-RARA and inv(16/CBFbeta-MYH11ë demonstrated the highest frequency of complete remission. Patients with hypodiploidy, t(9;22/bcr-abl and complex karyotypes were therapy-resistant or died within the first three months after AML diagnosis. CONCLUSION: Molecular-cytogenetic findings have an important significance for achievement of first complete remission. However, laboratory and biologic features (age, WBC and LDH and type of AML have a large influence on the disease outcome.

  6. Longitudinal fluorescence in situ hybridization reveals cytogenetic evolution in myeloma relapsing after autologous transplantation

    Science.gov (United States)

    Merz, Maximilian; Jauch, Anna; Hielscher, Thomas; Mai, Elias K.; Seckinger, Anja; Hose, Dirk; Bertsch, Uta; Neben, Kai; Raab, Marc S.; Salwender, Hans; Blau, Igor W.; Lindemann, Hans-Walter; Schmidt-Wolf, Ingo; Scheid, Christof; Haenel, Mathias; Weisel, Katja; Goldschmidt, Hartmut; Hillengass, Jens

    2017-01-01

    To investigate cytogenetic evolution after upfront autologous stem cell transplantation for newly diagnosed myeloma we retrospectively analyzed fluorescence in situ hybridization results of 128 patients with paired bone marrow samples from the time of primary diagnosis and at relapse. High-risk cytogenetic abnormalities (deletion 17p and/or gain 1q21) occurred more frequently after relapse (odds ratio: 6.33; 95% confidence interval: 1.86–33.42; P<0.001). No significant changes were observed for defined IGH translocations [t(4;14); t(11;14); t(14;16)] or hyperdiploid karyotypes between primary diagnosis and relapse. IGH translocations with unknown partners occurred more frequently at relapse. New deletion 17p and/or gain 1q21 were associated with cytogenetic heterogeneity, since some de novo lesions with different copy numbers were present only in subclones. No distinct baseline characteristics were associated with the occurrence of new high-risk cytogenetic abnormalities after progression. Patients who relapsed after novel agent-based induction therapy had an increased risk of developing high-risk aberrations (odds ratio 10.82; 95% confidence interval: 1.65–127.66; P=0.03) compared to those who were treated with conventional chemotherapy. Survival analysis revealed dismal outcomes regardless of whether high-risk aberrations were present at baseline (hazard ratio, 3.53; 95% confidence interval: 1.53–8.14; P=0.003) or developed at relapse only (hazard ratio, 3.06; 95% confidence interval: 1.09–8.59; P=0.03). Our results demonstrate cytogenetic evolution towards high-risk disease after autologous transplantation and underline the importance of repeated genetic testing in relapsed myeloma (EudraCT number of the HD4 trial: 2004-000944-26). PMID:28495913

  7. Audit of prenatal and postnatal diagnosis of isolated open spina bifida in three university hospitals in The Netherlands

    NARCIS (Netherlands)

    Olde Scholtenhuis, M. A. G.; Cohen-Overbeek, T. E.; Offringa, M.; Barth, P. G.; Stoutenbeek, Ph; Gooskens, R. H.; Wladimiroff, J. W.; Bilardo, C. M.

    2003-01-01

    Objective To audit the current Dutch policy of prenatal detection of isolated open spina bifida based on offering detailed ultrasound examination only on indication. Methods A retrospective analysis of prenatally diagnosed isolated spina bifida cases and of newborns diagnosed with this condition was

  8. Diagnosing Flu

    Science.gov (United States)

    ... Types Seasonal Avian Swine Variant Pandemic Other Diagnosing Flu Questions & Answers Language: English (US) Español Recommend on ... How do I know if I have the flu? Your respiratory illness might be the flu if ...

  9. [Recurrence of common truncus arteriosus. Prenatal diagnosis of a case report].

    Science.gov (United States)

    Ferry, P; Massias, C; Salzard, C; Anguill, C; Olleac, A; Quentin, M

    1994-01-01

    We report a case of isolated truncus arteriosis diagnosed prenatally which recurred during a subsequent pregnancy. This observation would suggest an increased risk of recurrent single trunk malformation as compared with other congenital heart diseases, in agreement with our understanding of the genetic processes involved. A prenatal screening can be achieved with a systematic examination of the fetal morphology. Prognosis is severe and prenatal diagnosis is difficult.

  10. Prenatal forehead edema in 4p- deletion: the 'Greek warrior helmet' profile revisited.

    Science.gov (United States)

    Levaillant, J M; Touboul, C; Sinico, M; Vergnaud, A; Serero, S; Druart, L; Blondeau, J R; Abd Alsamad, I; Haddad, B; Gérard-Blanluet, M

    2005-12-01

    Deletion of short arm of chromosome 4 is difficult to ascertain prenatally, and can be missed. A prenatal suspicion of 4p- syndrome was thoroughly investigated by using two-dimensional and three-dimensional sonography, with a description of the fetal face dysmorphological pattern. The cytogenetic confirmation, obtained by karyotype and FISH technique, allowed a precise description of the prenatal abnormalities. Post-termination tridimensional helicoidal scanner of the fetal face was performed. The main anomaly discovered using two-dimensional sonography was the presence of a strikingly thick prefrontal edema (8 mm, twice the normal values, at 22 weeks: 3.81 +/- 0.62 mm). Three-dimensional sonography showed the classical postnatal profile, with the phenotypic aspect of a 'Greek warrior helmet'. Nasal bones were normal in size and placement, confirmed by helicoidal scanner. Prenatal diagnosis of 4p deletion syndrome can be difficult, and it is the presence of prefrontal edema, associated with more subtle facial anomalies (short philtrum, microretrognathia) which should trigger cytogenetic investigation for 4p- deletion, even with only borderline growth retardation. Copyright 2005 John Wiley & Sons, Ltd

  11. The history of human cytogenetics in India-A review.

    Science.gov (United States)

    Dutta, Usha R

    2016-09-10

    It is 60years since the discovery of the correct number of chromosomes in 1956; the field of cytogenetics had evolved. The late evolution of this field with respect to other fields is primarily due to the underdevelopment of lenses and imaging techniques. With the advent of the new technologies, especially automation and evolution of advanced compound microscopes, cytogenetics drastically leaped further to greater heights. This review describes the historic events that had led to the development of human cytogenetics with a special attention about the history of cytogenetics in India, its present status, and future. Apparently, this review provides a brief account into the insights of the early laboratory establishments, funding, and the German collaborations. The details of the Indian cytogeneticists establishing their labs, promoting the field, and offering the chromosomal diagnostic services are described. The detailed study of chromosomes helps in increasing the knowledge of the chromosome structure and function. The delineation of the chromosomal rearrangements using cytogenetics and molecular cytogenetic techniques pays way in identifying the molecular mechanisms involved in the chromosomal rearrangement. Although molecular cytogenetics is greatly developing, the conventional cytogenetics still remains the gold standard in the diagnosis of various numerical chromosomal aberrations and a few structural aberrations. The history of cytogenetics and its importance even in the era of molecular cytogenetics are discussed. Copyright © 2016 Elsevier B.V. All rights reserved.

  12. Prenatal Diagnosis of Bilateral Pulmonary Agenesis: a Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Kyung A; Cho, Jeong Yeon; Lee, Seung Mi; Jun, Jong Kwan; Kang, Ji Eun; Seo, Jeong Wook [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    2010-02-15

    We report a case of bilateral pulmonary agenesis (BPA), which was suspected during a prenatal US examination and diagnosed by fetal magnetic resonance imaging (MRI). BPA is an extremely rare congenital anomaly and, although many fetal structural defects can be detected with a high degree of confidence after introducing high-resolution US, the prenatal diagnosis of BPA remains problematic. Other thoracic abnormalities, such as a congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, and pulmonary sequestration, should be excluded from the list of possible diagnoses before coming to the conclusion of BPA, because BPA is absolutely incompatible with extrauterine life, and an accurate internal diagnosis can prevent a futile intervention from being performed.

  13. Prenatal screening and genetics

    DEFF Research Database (Denmark)

    Alderson, P; Aro, A R; Dragonas, T

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we...... examine definitions of the relevant concepts in order to illustrate this point. The concepts are i) prenatal, ii) genetic screening, iii) screening, scanning and testing, iv) maternal and foetal tests, v) test techniques and vi) genetic conditions. So far, prenatal screening has little connection...... with precisely defined genetics. There are benefits but also disadvantages in overstating current links between them in the term genetic screening. Policy making and professional and public understandings about screening could be clarified if the distinct meanings of prenatal screening and genetic screening were...

  14. Mathematical operations in cytogenetic dosimetry: Dosgen

    International Nuclear Information System (INIS)

    Garcia L, O.; Zequera J, T.

    1996-01-01

    Handling of formulas and mathematical procedures for fitting and using of dose-response relationships in cytogenetic dosimetry is often difficulted by the absence of collaborators specialized in mathematics and computation. DOSGEN program contains the main mathematical operations which are used in cytogenetic dosimetry. It is able to run in IBM compatible Pc's by non-specialized personnel.The program possibilities are: Poisson distribution fitting test for the number of aberration per cell, dose assessment for whole body irradiation, dose assessment for partial irradiation and determination of irradiated fraction. The program allows on screen visualization and printing of results. DOSGEN has been developed in turbo pascal and is 33Kb of size. (authors). 4 refs

  15. Cytogenetic findings in metastases from colorectal cancer

    DEFF Research Database (Denmark)

    Bardi, G; Parada, L A; Bomme, L

    1997-01-01

    Eighteen tumor samples from 11 patients with metastatic colorectal cancer were cytogenetically analyzed after short-term culturing. Of the 13 metastases examined, 11 were from lymph nodes, 1 from the peritoneum and 1 from the lung. In 5 of the 11 patients, matched samples from the primary tumor...... colorectal carcinomas, and del(10)(q22) and add(16)(p13), which so far have not been associated with primary tumors and which may play a particular pathogenetic role in the metastatic process....

  16. Promises, pitfalls and practicalities of prenatal whole exome sequencing.

    Science.gov (United States)

    Best, Sunayna; Wou, Karen; Vora, Neeta; Van der Veyver, Ignatia B; Wapner, Ronald; Chitty, Lyn S

    2018-01-01

    Prenatal genetic diagnosis provides information for pregnancy and perinatal decision-making and management. In several small series, prenatal whole exome sequencing (WES) approaches have identified genetic diagnoses when conventional tests (karyotype and microarray) were not diagnostic. Here, we review published prenatal WES studies and recent conference abstracts. Thirty-one studies were identified, with diagnostic rates in series of five or more fetuses varying between 6.2% and 80%. Differences in inclusion criteria and trio versus singleton approaches to sequencing largely account for the wide range of diagnostic rates. The data suggest that diagnostic yields will be greater in fetuses with multiple anomalies or in cases preselected following genetic review. Beyond its ability to improve diagnostic rates, we explore the potential of WES to improve understanding of prenatal presentations of genetic disorders and lethal fetal syndromes. We discuss prenatal phenotyping limitations, counselling challenges regarding variants of uncertain significance, incidental and secondary findings, and technical problems in WES. We review the practical, ethical, social and economic issues that must be considered before prenatal WES could become part of routine testing. Finally, we reflect upon the potential future of prenatal genetic diagnosis, including a move towards whole genome sequencing and non-invasive whole exome and whole genome testing. © 2017 John Wiley & Sons, Ltd. © 2017 John Wiley & Sons, Ltd.

  17. Molecular cytogenetic in the familial cancers

    International Nuclear Information System (INIS)

    Cermak, M.

    2015-01-01

    The development of cancer diseases is accompanied by number of genetic changes at different levels of the genome. Some of these changes are still subject of research but others are already known in such an extent that they are associated with a specific type of malignity, the development, or treatment possibilities. The cancer genetics dispose of wide range of techniques, with reliable detection of the causal changes. Starting the molecular cytogenetics has launched a new era in diagnostics of genetic aberrations. Fluorescence in situ hybridization (FISH) definitely changed cytogenetic world from black and white to color one and set the foundation of modern investigative methods such as M-FISH, CGH, array CGH and many others. Successively all these methodologies have become a part of routine cancer diagnostics thorough the world. Actually, when much attention is given mostly to submicroscopic changes in DNA supposed as predispositions to various malignancies, the molecular cytogenetics is trying to success in competition of modern highly sensitive molecular biology methods. (author)

  18. Clinical and cytogenetic results of a series of amniocentesis cases from Northeast China: a report of 2500 cases.

    Science.gov (United States)

    An, N; Li, L L; Wang, R X; Li, L L; Yue, J M; Liu, R Z

    2015-12-02

    The aims of this study were to demonstrate the clinical and cytogenetic results of amniocentesis (AS) cases in Northeast China, to compare the incidence of different kinds of chromosomal abnormalities, and to study the association between the detection rate of chromosomal abnormalities and different indications for prenatal diagnosis. Cytogenetic analysis was performed on long-term tissue cultures of 2500 second-trimester amniotic fluid samples. The most common indication for genetic AS was abnormal maternal serum-screening test (69.56%), followed by advanced maternal age (15.04%). Chromosomal abnormality was detected in 206 (8.24%) of the 2500 samples. The detection rate of abnormal karyotypes was 62.5% in the group in which one member of the couple was a carrier of a chromosome abnormality; in the group having a positive result from noninvasive prenatal testing, the frequency was 50%. To determine the origin of fetal chromosome abnormal karyotype, 45 fetuses were analyzed. Of these, 20 were found to be de novo abnormalities and 25 were familial. The frequency and proportion of abnormal karyotypes varied substantially across different maternal AS indications. Knowing the origin and type of chromosomal abnormality would help determine termination or continuation of the pregnancy.

  19. Changes in cytogenetics and molecular genetics in acute myeloid leukemia from childhood to adult age groups.

    Science.gov (United States)

    Creutzig, Ursula; Zimmermann, Martin; Reinhardt, Dirk; Rasche, Mareike; von Neuhoff, Christine; Alpermann, Tamara; Dworzak, Michael; Perglerová, Karolína; Zemanova, Zuzana; Tchinda, Joelle; Bradtke, Jutta; Thiede, Christian; Haferlach, Claudia

    2016-12-15

    To obtain better insight into the biology of acute myeloid leukemia (AML) in various age groups, this study focused on the genetic changes occurring during a lifetime. This study analyzed the relation between age and genetics from birth to 100 years in 5564 patients with de novo AML diagnosed from 1998 to 2012 (1192 patients from nationwide pediatric studies [AML Berlin-Frankfurt-Münster studies 98 and 2004] and 4372 adults registered with the Munich Leukemia Laboratory). The frequencies of cytogenetic subgroups were age-dependent. Favorable subtypes (t(8;21), inv(16)/t(16;16), and t(15;17)) decreased in general from the pediatric age group (2 to groups ( 70 years; P age-specific incidence with age. Interestingly, the frequency of 11q23 abnormalities decreased from infants to older patients. The proportion of clinically relevant molecular aberrations of CCAAT/enhancer binding protein α, nucleophosmin (NPM1), and NPM1/fms-related tyrosine kinase 3-internal tandem duplication increased with age. Altogether, with the exclusion of infants, a significant decrease in the proportion of favorable cytogenetic subtypes and an increase in unfavorable cytogenetics were observed with increasing age. These findings indicate different mechanisms for the pathogenesis of AML; these different mechanisms also suggest directions for etiological research and contribute to the more unfavorable prognosis with increasing age. Cancer 2016;122:3821-3830. © 2016 American Cancer Society. © 2016 American Cancer Society.

  20. Prenatal Care: Second Trimester Visits

    Science.gov (United States)

    ... Pregnancy week by week During the second trimester, prenatal care includes routine lab tests and measurements of your ... too. By Mayo Clinic Staff The goal of prenatal care is to ensure that you and your baby ...

  1. Prenatal Care: Third Trimester Visits

    Science.gov (United States)

    ... Pregnancy week by week During the third trimester, prenatal care might include vaginal exams to check the baby's position. By Mayo Clinic Staff Prenatal care is an important part of a healthy pregnancy, ...

  2. Prenatal Genetic Counseling (For Parents)

    Science.gov (United States)

    ... Videos for Educators Search English Español Prenatal Genetic Counseling KidsHealth / For Parents / Prenatal Genetic Counseling What's in ... can they help your family? What Is Genetic Counseling? Genetic counseling is the process of: evaluating family ...

  3. Partial Trisomy 16p (16p12.2→pter and Partial Monosomy 22q (22q13.31 →qter Presenting With Fetal Ascites and Ventriculomegaly: Prenatal Diagnosis and Array Comparative Genomic Hybridization Characterization

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2010-12-01

    Conclusion: Partial trisomy 16p can be associated with fetal ascites and ventriculomegaly in the second trimester. Prenatal sonographic detection of fetal ascites in association with ventriculomegaly should alert chromosomal abnormalities and prompt cytogenetic investigation, which may lead to the identification of an unexpected parental translocation involving chromosomal segments associated with cerebral and vascular abnormalities.

  4. Prenatal sonographic diagnosis of diastrophic dwarfism.

    Science.gov (United States)

    Tongsong, Theera; Wanapirak, Chanane; Sirichotiyakul, Supatra; Chanprapaph, Pharuhas

    2002-02-01

    A healthy 27-year-old pregnant woman underwent sonographic examination because her uterine size was large for 20 weeks' menstrual age. Sonograms showed short fetal limbs with hitchhiker thumbs and toes, thoracic scoliosis, clubbed feet, and polyhydramnios. The ossification of all bony structures appeared normal, and there was no evidence of fractures. On the basis of these sonographic findings, we diagnosed skeletal dysplasia and short-limbed dwarfism, most likely diastrophic dwarfism. We counseled the parents, and the pregnancy was continued. At 37 weeks menstrual age, the patient vaginally delivered a male infant that weighed 2,560 g. The infant survived with respiratory support during his first few days of life. Postnatal physical and radiologic examinations confirmed the prenatal diagnosis of diastrophic dwarfism. Sonography is the modality of choice for prenatal detection of diastrophic dwarfism. Copyright 2002 John Wiley & Sons, Inc.

  5. Prenatal Sonographic Findings of Polysplenic Syndrome

    International Nuclear Information System (INIS)

    Yoo, Jeong Hyun; Suh, Jeong Soo; Lee, Young Ho

    2004-01-01

    We report 6 cases of polysplenic syndrome diagnosed on prenatal sonography. The mean menstrual age at the time of presentation was 275 weeks (range 184 to 38 weeks). All cases were examined using level-II prenatal sonography. The sonographic findings of polysplenic syndrome were retrograde analyzed and compared to the autopsy or postnatal findings. Polysplenia was detected in 5 cases on the prenatal sonography. Associated cardiovascular anomalies were detected in all 6 cases, all of which had more than one anomaly, namely complete atrioventricular septal defect in two cases, double outlet right ventricle combined with rudimentary LV or mitral atresia in two cases and VSD and ASD in one case each. There were three cases of interrupted IVC with azygous continuation of the posterior thorax. Bradycardia was observed in 2 cases, one of which showed AV dissociation of rhythm. Visceral abnormalities were present in all cases and there were combined anomalies such as echogenic bowel, pelviectasia, horseshoe kidney, and posterior neck cystic hygroma and fetal hydrops. Four cases terminated pregnancy. The autopsy results of 2 cases were comparable to those of the prenatal sonography, however autopsies were not performed in 2 cases. One fetus near term was delivered and the baby subsequently underwent heart surgery and was still alive at the last follow-up. The remaining one case was lost to follow-up. If multiple fetal anomalies, including complex heart disease and polysplenia, are detected in the prenatal sonography, a diagnosis of polysplenic syndrome can be made. IVC interruption with azygous continuation can also be helpful in the diagnosis of polysplenic syndrome, and this can be observed by detecting the double vessel of the posterior thorax

  6. Contributions of Cytogenetics and Molecular Cytogenetics to the Diagnosis of Adipocytic Tumors

    Directory of Open Access Journals (Sweden)

    Jun Nishio

    2011-01-01

    Full Text Available Over the last 20 years, a number of tumor-specific chromosomal translocations and associated fusion genes have been identified for mesenchymal neoplasms including adipocytic tumors. The addition of molecular cytogenetic techniques, especially fluorescence in situ hybridization (FISH, has further enhanced the sensitivity and accuracy of detecting nonrandom chromosomal translocations and/or other rearrangements in adipocytic tumors. Indeed, most resent molecular cytogenetic analysis has demonstrated a translocation t(11;16(q13;p13 that produces a C11orf95-MKL2 fusion gene in chondroid lipoma. Additionally, it is well recognized that supernumerary ring and/or giant rod chromosomes are characteristic for atypical lipomatous tumor/well-differentiated liposarcoma and dedifferentiated liposarcoma, and amplification of 12q13–15 involving the MDM2, CDK4, and CPM genes is shown by FISH in these tumors. Moreover, myxoid/round cell liposarcoma is characterized by a translocation t(12;16(q13;p11 that fuses the DDIT3 and FUS genes. This paper provides an overview of the role of conventional cytogenetics and molecular cytogenetics in the diagnosis of adipocytic tumors.

  7. Prenatal Nitrate Exposure and Childhood Asthma. Influence of Maternal Prenatal Stress and Fetal Sex.

    Science.gov (United States)

    Bose, Sonali; Chiu, Yueh-Hsiu Mathilda; Hsu, Hsiao-Hsien Leon; Di, Qian; Rosa, Maria José; Lee, Alison; Kloog, Itai; Wilson, Ander; Schwartz, Joel; Wright, Robert O; Cohen, Sheldon; Coull, Brent A; Wright, Rosalind J

    2017-12-01

    Impact of ambient pollution upon children's asthma may differ by sex, and exposure dose and timing. Psychosocial stress can also modify pollutant effects. These associations have not been examined for in utero ambient nitrate exposure. We implemented Bayesian-distributed lag interaction models to identify sensitive prenatal windows for the influence of nitrate (NO 3 - ) on child asthma, accounting for effect modification by sex and stress. Analyses included 752 mother-child dyads. Daily ambient NO 3 - exposure during pregnancy was derived using a hybrid chemical transport (Geos-Chem)/land-use regression model and natural log transformed. Prenatal maternal stress was indexed by a negative life events score (high [>2] vs. low [≤2]). The outcome was clinician-diagnosed asthma by age 6 years. Most mothers were Hispanic (54%) or black (29%), had a high school education or less (66%), never smoked (80%), and reported low prenatal stress (58%); 15% of children developed asthma. BDILMs adjusted for maternal age, race, education, prepregnancy obesity, atopy, and smoking status identified two sensitive windows (7-19 and 33-40 wk gestation), during which increased NO 3 - was associated with greater odds of asthma, specifically among boys born to mothers reporting high prenatal stress. Cumulative effects of NO 3 - across pregnancy were also significant in this subgroup (odds ratio = 2.64, 95% confidence interval = 1.27-5.39; per interquartile range increase in ln NO 3 - ). Prenatal NO 3 - exposure during distinct sensitive windows was associated with incident asthma in boys concurrently exposed to high prenatal stress.

  8. Cytogenetics And Its Relevance to the Practice of Modern Medicine ...

    African Journals Online (AJOL)

    This review outlines the importance of cytogenetics in modern medicine, the need to develop the application to the level of a full discipline in Nigeria to prevent and control these disorders and reawaken the interest of scientists and postgraduate students in this all-important discipline. Keywords: Human cytogenetics ...

  9. Cytogenetics of Post-Irradiation Mouse Leukaemia

    Energy Technology Data Exchange (ETDEWEB)

    Wald, N.; Pan, S.; Upton, A.; Brown, R. [Graduate School of Public Health, University of Pittsburgh, PA (United States); Oak Ridge National Laboratory, Oak Ridge, TN (United States)

    1969-11-15

    The interrelationship between radiation, cytogenetic abnormalities, and viruses in leukaemogenesis has been studied in the RF/Un mouse which develops a high incidence of granulocytic leukaemia on radiation exposure. A virus-like agent has been demonstrated in such leukaemic animals and the disease has been transmitted by passage of apparently acellular materials from irradiated primary animals to normal recipients. Pilot cytogenetic studies revealed consistent abnormal chromosome markers and modal shifts in both irradiated leukaemic animals and in non-irradiated animals developing leukaemia after passage injection. To define better the relationship between consistent bone-marrow chromosome aberrations and postirradiation primary and passaged leukaemia, 100 RF/Un mice were studied which were irradiated with 300 R of 250-kVp X-rays at 100 weeks of age and subsequently developed leukaemia. Eighty-seven had granulocytic leukaemia and in 72 of these, bone-marrow cytogenetic abnormalities were found. The distribution of-numerical and structural chromosome aberrations in 3225 cells studied are reviewed in derail. The correlation of specific aberrations to clinical and histopathologic findings has been attempted: Sequential passages of apparently cell-free material from the post-irradiation leukaemic mice into unirradiated RE/Un recipients and subsequent passages from leukaemic recipients were performed to observe the evolution of any initial chromosome markers and shifts in modal chromosome number in the passage generations. Two-hundred-thirty-six mice were inoculated with the material obtained either from primary post-irradiation leukaemic mice or from serially-passaged leukaemia cases. In the most extensive passaged line, 22 transfer generations containing 129 leukaemic mice were examined by clinical, histopathologic, -haematologic and cytogenetic procedures. Evolution of abnormal chromosome modes from 41 in the early passages to 39 chromosomes consistently after the 4

  10. [Familial retinoblastoma: cytogenetic study of the tumor].

    Science.gov (United States)

    Robledo Batanero, M; Manzanal Martínez, A; Ayuso García, C; Benítez Ortiz, J

    1990-05-01

    We report a case of familiar retinoblastoma, in which both mother and daughter show bilateral retinoblastoma. The cytogenetic study, in both peripheral blood lymphocytes and tumoral tissue did not show alterations on the 13 chromosome, although we found a complex kariotype in tumoral tissue defined by three celular lines. In all of them appears a marker in which the 6 chromosome is involved (der 6). The derivated of 6 chromosome are markers highly characteristic of the retinoblastoma cases, and can be related with the aggressivity of tumor and the appearance of the second tumors.

  11. Cytogenetic report of a male breast cancer

    DEFF Research Database (Denmark)

    Cavalli, L R; Rogatto, S R; Rainho, C A

    1995-01-01

    of chromosome 8 in the characterization of the subtype of ductal breast carcinomas and demonstrate that chromosome 17, which is frequently involved in female breast cancers, is also responsible for the development or progression of primary breast cancers in males.......The cytogenetic findings on G-banding in an infiltrating ductal breast carcinoma in a 69-year-old man are reported. The main abnormalities observed were trisomy of chromosomes 8 and 9 and structural rearrangement in the long arm of chromosome 17 (add(17)(q25)). Our results confirm the trisomy...

  12. Cytogenetic techniques as biological indicator and dosimeter of radiation damage

    International Nuclear Information System (INIS)

    Hadjidekova, V.; Hristova, R.

    2006-01-01

    Full text: The cytogenetic methods are established techniques for bio monitoring and bio dosimetry of professionally and accidentally exposed to ionizing radiation subjects. They are applied to continue the evaluation of the physical dosimetry and to consider the individual radiosensitivity. The results of cytogenetic monitoring and dosimetry of radiation exposed subjects carried out during the last 5 years in laboratory of Radiation Genetics, NCRRP is reported. Laboratory of Radiation genetics performs cytogenetic monitoring of low dose radiation professionally or medically exposed subjects: workers in Kozloduy NPP, radioactive waste repository workers, X-rays diagnostically exposed patients, and radiotherapy exposed as well. Three cytogenetic indicators are applied as the most sensitive indicators for human radiation exposure: analysis of micronuclei (MN), chromosomal aberrations (CA) and stable translocations (FISH). The optimized methodology for application of different cytogenetic techniques for radiation estimation is discussed

  13. Situs anomalies on prenatal MRI

    International Nuclear Information System (INIS)

    Nemec, Stefan F.; Brugger, Peter C.; Nemec, Ursula; Bettelheim, Dieter; Kasprian, Gregor; Amann, Gabriele; Rimoin, David L.; Graham, John M.; Prayer, Daniela

    2012-01-01

    Objective: Situs anomalies refer to an abnormal organ arrangement, which may be associated with severe errors of development. Due regard being given to prenatal magnetic resonance imaging (MRI) as an adjunct to ultrasonography (US), this study sought to demonstrate the in utero visualization of situs anomalies on MRI, compared to US. Materials and methods: This retrospective study included 12 fetuses with situs anomalies depicted on fetal MRI using prenatal US as a comparison modality. With an MRI standard protocol, the whole fetus was assessed for anomalies, with regard to the position and morphology of the following structures: heart; venous drainage and aorta; stomach and intestines; liver and gallbladder; and the presence and number of spleens. Results: Situs inversus totalis was found in 3/12 fetuses; situs inversus with levocardia in 1/12 fetuses; situs inversus abdominis in 2/12 fetuses; situs ambiguous with polysplenia in 3/12 fetuses, and with asplenia in 2/12 fetuses; and isolated dextrocardia in 1/12 fetuses. Congenital heart defects (CHDs), vascular anomalies, and intestinal malrotations were the most frequent associated malformations. In 5/12 cases, the US and MRI diagnoses were concordant. Compared to US, in 7/12 cases, additional MRI findings specified the situs anomaly, but CHDs were only partially visualized in six cases. Conclusions: Our initial MRI results demonstrate the visualization of situs anomalies and associated malformations in utero, which may provide important information for perinatal management. Using a standard protocol, MRI may identify additional findings, compared to US, which confirm and specify the situs anomaly, but, with limited MRI visualization of fetal CHDs.

  14. Breaking bad news in prenatal medicine: a literature review.

    Science.gov (United States)

    Luz, Rita; George, Astrid; Spitz, Elisabeth; Vieux, Rachel

    2017-02-01

    The diagnosis of a fetal anomaly in perinatal medicine forces expectant parents and healthcare providers to face the difficult process of breaking bad news. This exploratory literature review was aimed at providing a medical and psychological view of the psychological experience in expectant parents and physicians in the context of prenatal diagnosis of a fetal anomaly. An exploratory search of PubMed and PsycINFO/PsycARTICLES databases performed by an interdisciplinary team composed of a physician and psychologists. Search terms were: prenatal diagnosis AND bad news; prenatal diagnosis AND psychological consequences; prenatal diagnosis AND psychological sequelae; prenatal diagnosis AND fetal abnormality. The processing of selected articles followed a standardised five-step procedure. A total of 860 articles were screened of which 32 were retained for analysis. Four main themes emerged from the explanatory content analysis: (1) parents' subjective experience; (2) physicians' subjective experience; (3) encounters between expectant parents and professionals; and (4) ethical challenges in breaking bad news in prenatal medicine. Expectant parents go through a complex and multidimensional experience when the diagnosis of a fetal anomaly is disclosed. Simultaneously, physicians consider breaking bad news as a very stressful event and are poorly prepared in this regard. A better knowledge of factors underlying psychological adjustment of the parental dyad and on the subjective experience of physicians delivering these diagnoses could enable better adaptation for both patients and professionals.

  15. Urodynamics in boys after prenatally diagnosed vesicoureteric reflux

    DEFF Research Database (Denmark)

    Thorup, Jørgen Mogens

    1996-01-01

    of patients with VUR and impaired renal function compared to: (1) reflux patients with bilateral normal renal function; and (2) "normal" controls. Patients with normal bilateral renal and bladder function had a low risk of urinary tract infection during the period of follow-up (1 to 6 years). Early urodynamic...

  16. Fetal omphalocele ratios predict outcomes in prenatally diagnosed omphalocele.

    Science.gov (United States)

    Montero, Freddy J; Simpson, Lynn L; Brady, Paula C; Miller, Russell S

    2011-09-01

    The objective of the study was to evaluate whether ratios considering omphalocele diameter relative to fetal biometric measurements perform better than giant omphalocele designation at predicting inability to achieve neonatal primary surgical closure. Cases of fetal omphalocele that underwent evaluation between May 2003 and July 2010 were identified. Inclusion was restricted to live births with plan for postnatal repair. Omphalocele diameter upon antenatal ultrasound was compared with abdominal circumference, femur length, and head circumference, yielding the respective omphalocele (O)/abdominal circumference (AC), O/femur length (FL), and O/head circumference (HC) ratios. The absolute measurements were used to classify giant lesions. Omphalocele ratios and giant omphalocele designations were evaluated as predictors of inability to achieve primary repair. Among 25 included cases, staged or delayed closure occurred in 52%. With an optimal cutoff of 0.21 or greater, O/HC best predicted the primary outcome (sensitivity, 84.6%; specificity, 58.3%; odds ratio, 7.7). The O/HC of 0.21 or greater outperformed giant designations. The O/HC of 0.21 or greater best predicted staged or delayed omphalocele closure. Giant omphalocele designation, regardless of definition, poorly predicted outcome. Copyright © 2011 Mosby, Inc. All rights reserved.

  17. Fetal Ovarian Cysts Diagnosed During Prenatal Ultrasound Screening

    Directory of Open Access Journals (Sweden)

    K. Emre Karaşahin

    2008-06-01

    Conclusion: Although FOCs are not usually life-threatening, the risk of losing the ovaries due to torsion during the neonatal period and the resulting sexual development disorders and infertility are very disturbing. [Taiwan J Obstet Cynecol 2008;47(2:215-217

  18. Prenatal stress in pigs

    NARCIS (Netherlands)

    Kranendonk, Godelieve

    2006-01-01

    Studies in many species, including humans, have demonstrated that stress during gestation can have long-term developmental, neuroendocrine, and behavioural effects on the offspring. Because pregnant sows can be subjected to regular stressful situations, it is relevant to study whether prenatal

  19. Revisiting cytogenetic paradigms armed with new tools

    International Nuclear Information System (INIS)

    Cornforth, M.N.

    2003-01-01

    It could be argued that most of the fundamental tenets of radiation biology were either discovered, or subsequently confirmed, by observing eukaryotic chromosomes under the microscope. These include, but are certainly not limited to, dose-response relationships with respect to intensity (dose rate/dose fractionation) and radiation quality (LET/track structure). Chromosome aberrations are exquisitely sensitive indicators of radiation damage, and provide quantitative information of biological effect on a cell-by-cell-basis. As such, they have long been a favored endpoint for theoreticians, thereby figuring prominently in the development of generalized models of radiation action. Most of these seminal contributions to radiation biology occurred over a period of time when cytogenetic techniques were, of course, less refined than today. Considering the increasing rate at which technological advances have been made available to the researcher over the past few years, a reexamination of some of the radiological principles that cytogenetics helped to found seems in order. As an example of such effort, this talk will center around improvements to the use of whole chromosome painting by FISH- principally combinatorial painting techniques like mFISH and SKY- for the purposes of examining in greater detail structural aberrations to chromosomes produced following exposure to ionizing radiations of differing quality and intensity. This and related approaches by various laboratories around the world have turned up a few surprise discoveries that do not always fit established paradigms, and which serve to sharpen arguments that have been used to buttress existing models of aberration formation

  20. Experience of prenatal consultation in Zaporizhzhia region over the 2011-2015 years

    Directory of Open Access Journals (Sweden)

    N. V. Avramenko

    2016-08-01

    Full Text Available Congenital malformations are one of the main causes of high infant mortality and disability from childhood. Medical and genetic counseling is an important integral part of prenatal diagnosis. Aim. The experience of the work of prenatal consultation at the clinic of Zaporizhzhya Regional Center of Human Reproduction for the 2011- 2015 years has been analyzed. Modern methods of prenatal diagnosis, including mass and selective testing of pregnant women on birth defects and chromosomal abnormalities by ultrasound examination and evaluation of maternal serum markers, as well as prenatal, cytogenetic diagnosis of chromosomal diseases in high-risk groups have been used for the early detection and prevention of birth of children with hereditary diseases in the Zaporizhzhia region. Methods and results. 2,528 Pregnant women with suspected congenital malformations of the fetus have been examined. To adequately assess the perinatal prognosis and develop tactics of pregnancy in the early neonatal period the diagnosis of pregnant women included consultation of geneticist, obstetrician - gynecologist, others specialists. Malformations of the fetus have been identified in 1.435 pregnant women. Conclusions. To identify chromosomal aberrations and congenital malformations in the fetus the prenatal consultation defines: the forecast for the life and health of the child, the tactics of pregnancy and birth, postnatal correction. Multiple malformations in the fetus and congenital central nervous system development occupy the first place in the structure of abortion during the observed period (2011-2015 years.

  1. El diagnóstico prenatal de defectos cromosómicos en Costa Rica

    Directory of Open Access Journals (Sweden)

    Isabel Castro Volio

    2004-09-01

    Full Text Available Esta es una breve reseña histórica del diagnóstico prenatal citogenético en Costa Rica. Se realiza únicamente en el Instituto de Investigaciones en Salud de la Universidad de Costa Rica desde el año 1984. Sirve a los hospitales de la seguridad social y a la medicina privada. Trabajamos con muestras de líquido amniótico y de sangre fetal enviadas por los perinatólogos, provenientes de embarazos de alto riesgo, ya sea por presentar alteraciones en el ultrasonograma, marcadores sonográficos de aneuploidía o edad materna avanzada, entre otras indicaciones menos frecuentes. El diagnóstico se realiza en el segundo y en el tercer trimestre de gestación. Como la interrupción del embarazo no es permitida, el personal médico y la familia se prepara con tiempo para recibir de la mejor manera al neonato afectado. En los casos de cariotipo normal, esta información alivia la preocupación de los padres.Prenatal diagnosis of chromosomic defects in Costa Rica. This is an historical overview of prenatal cytogenetic diagnosis in Costa Rica. It started in 1984 at the Institute for Health Research of the University of Costa Rica. This is the only fetal cytogenetic diagnosis facility in the country and serves social security as well as private patients. Perinatologists send amniotic fluid and fetal blood samples from high risk pregnancies, mainly due to abnormal ultrasound assessment, sonographic markers of aneuploidy and advanced maternal age. Second and third trimester diagnosis allows the development of coping strategies for the families of affected fetuses, since pregnancy interruption is not permitted. Normal fetal cytogenetic results provide reassurance to the parents. Rev. Biol. Trop. 52(3: 545-549. Epub 2004 Dic 15.

  2. Pre-natal counselling and diagnosis in Down's syndrome.

    Science.gov (United States)

    Papp, Z

    1973-01-01

    Today Down's syndrome is recognizable on the basis of its clinical c haracteristics in infants. According to present knowledge, Down's syndr ome can be classified cytogenetically into 4 groups: regular trisomy, translocational trisomy, mosaic forms and double trisomies. Knowledge of the karyotype is used in genetic counselling for further prevention of Down's syndrome in unborn fetuses. Prenatal chromosome analyses, a form of intrauterine diagnosis, has been used in Hungary since 1968. The average incidence of Down's syndrome has been estimated at 1.5:1000 among newborns. The mother's age and genetic deviations are determinant s in whether or not the syndrome will occur. The risk of Down's syndrome increases from 1 per 1000 in mothers under 30 to 10-20 per 1000 in mothers over 45. Since risk increases with the mother's age amniocen tesis should be routinely performed in pregnancies of older mothers. In the case of trisomy verified by intrauterine diagnosis, termination of pregnancy is advised. If population cytogenetic investigations are practiced, the carriers of the balanced translocation will be revealed and within a few years there will be only 3 indications for amniocentesis: 1) in cases of mother's advanced age, 2) in cases of bala nced translocation carrier and 3) in cases of a previously affected chil d disregarding the parental karyotypes. The expected risk of Down's syn drome predictable from available data if higher than 1-5% justifies intr auterine chromosome analysis.

  3. Prenatal sonographic diagnosis of focal musculoskeletal anomalies

    International Nuclear Information System (INIS)

    Ryu, Jung-Kyu; Cho, Jeong-Yeon; Choi, Jong-Sun

    2003-01-01

    Focal musculoskeletal anomalies vary, and can manifest as part of a syndrome or be accompanied by numerous other conditions such as genetic disorders, karyotype abnormalities, central nervous system anomalies and other skeletal anomalies, lsolated focal musculoskeletal anomaly does, however, also occur; its early prenatal diagnosis is important in deciding prenatal care, and also helps in counseling parents about the postnatal effects of numerous possible associated anomalies. We have encountered 50 cases involving focal musculoskeletal anomalies, including total limb dysplasia [radial ray abnormality (n=3), mesomelic dysplasia (n=1)]; anomalies of the hand [polydactyly (n=8), syndactyly (n=3), ectrodactyly (n=1), clinodactyly (n=6), clenched hand (n=5)]; anomalies of the foot [clubfoot (n=10), rockerbottom foot (n=5), sandal gap deformity (n=1), curly toe (n=2)]; amniotic band syndrome (n=3); and anomalies of the focal spine [block vertebra (n=1), hemivertebra (n=1)]. Among these 50 cases, five [polydactyly (n=1), syndactyly (n=2) and curly toe (n=2) were confirmed by postnatal physical evaluation, two (focal spine anomalies) were diagnosed after postnatal radiologic examination, and the remaining 43 were proven at autopsy. For each condition, we describe the prenatal sonographic findings, and include a brief review

  4. Prenatal sonographic diagnosis of focal musculoskeletal anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Ryu, Jung-Kyu; Cho, Jeong-Yeon; Choi, Jong-Sun [Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2003-12-15

    Focal musculoskeletal anomalies vary, and can manifest as part of a syndrome or be accompanied by numerous other conditions such as genetic disorders, karyotype abnormalities, central nervous system anomalies and other skeletal anomalies, lsolated focal musculoskeletal anomaly does, however, also occur; its early prenatal diagnosis is important in deciding prenatal care, and also helps in counseling parents about the postnatal effects of numerous possible associated anomalies. We have encountered 50 cases involving focal musculoskeletal anomalies, including total limb dysplasia [radial ray abnormality (n=3), mesomelic dysplasia (n=1)]; anomalies of the hand [polydactyly (n=8), syndactyly (n=3), ectrodactyly (n=1), clinodactyly (n=6), clenched hand (n=5)]; anomalies of the foot [clubfoot (n=10), rockerbottom foot (n=5), sandal gap deformity (n=1), curly toe (n=2)]; amniotic band syndrome (n=3); and anomalies of the focal spine [block vertebra (n=1), hemivertebra (n=1)]. Among these 50 cases, five [polydactyly (n=1), syndactyly (n=2) and curly toe (n=2) were confirmed by postnatal physical evaluation, two (focal spine anomalies) were diagnosed after postnatal radiologic examination, and the remaining 43 were proven at autopsy. For each condition, we describe the prenatal sonographic findings, and include a brief review.

  5. Uptake of health care services and health status of HIV-infected women diagnosed through antenatal HIV screening in Barbados, 1996-2004 Utilización de los servicios de atención sanitaria y estado de salud de las mujeres seropositivas al VIH diagnosticadas mediante el tamizaje prenatal para el VIH en Barbados, 1996-2004

    Directory of Open Access Journals (Sweden)

    Alok Kumar

    2007-12-01

    Full Text Available OBJECTIVES: To study utilization of HIV-related health care services and to describe the health status of HIV-infected women diagnosed through antenatal voluntary counseling and testing (VCT for HIV infection in Barbados. METHODS: This is a descriptive study. The study population includes all HIV-infected women in Barbados diagnosed as HIV-infected through VCT for HIV infection during 1996-2004. RESULTS: The median duration of HIV infection from time of diagnosis to the time of this report for the 163 women diagnosed during the study period was 72 months (low range, 9 months; high range, 117 months. Of the 163 women, 102 (62.6% had attended the centralized HIV/AIDS clinic for follow-up (care, treatment, and monitoring, whereas 61 (37.4% had never attended the clinic. The median time lag between diagnosis of HIV infection and first presentation to the HIV/AIDS clinic was 36 months (low range, 1 month; high range, 114 months. Of the HIV-infected women who attended the HIV/AIDS clinic, more than one-fourth had severe immunodeficiency at the time of their first follow-up visit. Of the 53 women undergoing highly active anti-retroviral therapy (HAART at the time of the study, 23 (43.4% began the therapy within three months of their first follow-up visit. CONCLUSIONS: Early HIV diagnosis through antenatal VCT is not enough to ensure that women with HIV will get adequate and timely HIV-related health care. These women suffer significant premature mortality, largely related to inadequate follow-up.OBJETIVOS: Estudiar la utilización de los servicios de atención sanitaria relacionados con el VIH y describir el estado de salud de las mujeres infectadas con este virus, diagnosticadas mediante el asesoramiento y la prueba de detección del VIH de carácter voluntario (APDV durante el período prenatal en Barbados. MÉTODOS: Este es un estudio descriptivo. La población de estudio abarcó a todas las mujeres infectadas por el VIH, diagnosticadas en Barbados

  6. Ebstein's anomaly with imperforate tricuspid valve. Prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    Zielinsky Paulo

    2000-01-01

    Full Text Available Ebstein's anomaly is an uncommon congenital heart defect, with a prevalence of 0.3-0.5%. Its association with an imperforate tricuspid valve is an even more rare situation (less than 10% of cases. Prenatal diagnosis of this association by means of fetal echocardiography has not been reported. We describe here this association diagnosed before birth and confirmed after birth. The diagnostic potential and importance of fetal echocardiography during prenatal evaluation of cardiac malformations allows for adequate perinatal planning and management, with an obvious impact on morbidity and mortality.

  7. Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome

    Directory of Open Access Journals (Sweden)

    Esther Perez-Carbajo

    2015-01-01

    Full Text Available Achondroplasia is the most frequent nonlethal skeletal dysplasia, with a prevalence of 1 : 5000 to 1 : 40,000 live births, and it is caused by a fibroblast growth factor receptor alteration. The combination of achondroplasia and Klinefelter syndrome is extremely rare and just four reports have been published in the literature, which were all diagnosed postnatally. We report the fifth case described of this uncommon association and its prenatal diagnosis. In cases of prenatal diagnosis of achondroplasia with additional suspicious morphological abnormalities, an invasive test such as amniocentesis must be carried out to assess the karyotype normality.

  8. Difficulties with Prenatal Diagnosis of the Walker-Warburg Syndrome

    International Nuclear Information System (INIS)

    Low, A.S.C.; Lee, S.L.; Tan, A.S.A.; Chan, D.K.L.; Chan, L.L.

    2005-01-01

    We describe a postnatally diagnosed case of Walker-Warburg syndrome - a form of congenital muscular dystrophy with lissencephaly and eye abnormalities. We reviewed the literature to highlight its clinico-radiological diagnostic features and discuss the difficulties encountered with prenatal diagnosis, especially in cases with no positive family history. An increased awareness of this rare but lethal condition, and a high index of suspicion during routine antenatal ultrasound, could prompt further advanced fetal ultrasonography and magnetic resonance imaging, and aid in timely prenatal diagnosis, management, and counseling. Brain/brainstem, congenital, magnetic resonance imaging, obstetrics, pediatrics, ultrasound

  9. Difficulties with Prenatal Diagnosis of the Walker-Warburg Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Low, A.S.C.; Lee, S.L.; Tan, A.S.A.; Chan, D.K.L.; Chan, L.L. [Singapore General Hospital (Singapore). Depts. of Diagnostic Radiology, Obstetrics and Gynecology and Neonatology

    2005-10-01

    We describe a postnatally diagnosed case of Walker-Warburg syndrome - a form of congenital muscular dystrophy with lissencephaly and eye abnormalities. We reviewed the literature to highlight its clinico-radiological diagnostic features and discuss the difficulties encountered with prenatal diagnosis, especially in cases with no positive family history. An increased awareness of this rare but lethal condition, and a high index of suspicion during routine antenatal ultrasound, could prompt further advanced fetal ultrasonography and magnetic resonance imaging, and aid in timely prenatal diagnosis, management, and counseling. Brain/brainstem, congenital, magnetic resonance imaging, obstetrics, pediatrics, ultrasound.

  10. The Prenatal Care at School Program

    Science.gov (United States)

    Griswold, Carol H.; Nasso, Jacqueline T.; Swider, Susan; Ellison, Brenda R.; Griswold, Daniel L.; Brooks, Marilyn

    2013-01-01

    School absenteeism and poor compliance with prenatal appointments are concerns for pregnant teens. The Prenatal Care at School (PAS) program is a new model of prenatal care involving local health care providers and school personnel to reduce the need for students to leave school for prenatal care. The program combines prenatal care and education…

  11. Influence of detection of pretreatment cytogenetic abnormalities on first complete remission and survival in adult acute lymphoblastic leukemia

    Directory of Open Access Journals (Sweden)

    Milena Georgieva Velizarova

    2011-09-01

    Full Text Available Objective: Treatment of acute lymphoblastic leukemia (ALL in adults focuses on the initial assessment of the prognostic relevant cytogenetic features as well as a response-guided therapy based on molecular data. We examined the importance of molecular-cytogenetic abnormalities for complete remission (CR rates and the overall survival (OS in adult ALLs.Materials and Methods: Conventional cytogenetics and fluorescence in situ hybridization were performed on bone marrow cells from 33 newly-diagnosed ALL adults. Two karyotype categories [standard- risk group- normal karyotype, hyperdiplody and other structural aberrations, and high-risk group-t(11q23/MLL, t(9;22/bcr-abl, t(1;19, t(8;14, C-MYC and complex karyotype] and the biologically and clinically relevant ALL ploidy subgroups were prospectively defined.Results: Chromosomal abnormalities were found in 52% of the cases with a high rate of poor-risk translocations - t(9;22, t(8q24, t(11q23, t(1;19. The total CR rate was 67% and the median time for achievement 2.33 months. Male sex, an age below 35 years and the absence of high risk translocations might have contributed to the high CR rates. Female patients, hyperdiplody, low white blood cells (WBC, and random cytogenetic aberrations had the longest OS. OS, 3- and 5-years survival periods were significantly shorter for poor-risk than standard risk group (p=.015, p=.001 and p=.005, respectively.Conclusion: This study emphasizes the lack of influence of cytogenetic aberrations on the CR and the time to achieve CR. However, our observations show that these aberrations are an independent prognostic factor in adult ALL - they allow predicting therapy resistance and the OS time after intensetreatment.

  12. [Prenatal care in Latin America].

    Science.gov (United States)

    Buekens, P; Hernández, P; Infante, C

    1990-01-01

    Available data on the coverage of prenatal care in Latin America were reviewed. In recent years, only Bolivia had a coverage of prenatal care of less than 50 per cent. More than 90 per cent of pregnant women received prenatal care in Chile, Cuba, the Dominican Republic, and Puerto Rico. Prenatal care increased between the 1970 and 1980 in the Dominican Republic, Ecuador, Guatemala, Honduras, Mexico, and Peru. The coverage of prenatal care decreased in Bolivia and Colombia. The mean number of visits increased in Cuba and Puerto Rico. The increase of prenatal care in Guatemala and Honduras is due to increased care by traditional birth attendants, compared to the role of health care institutions. We compared the more recent data on tetanus immunization of pregnant women to the more recent data on prenatal care. The rates of tetanus immunization are always lower than the rates of prenatal care attendance, except in Costa Rica. The rates of tetanus immunization was less than half as compared to the rates of prenatal care in Bolivia, Guatemala, and Peru. To improve the content of prenatal care should be an objective complementary to the increase of the number of attending women.

  13. Prenatal detection of congenital heart disease in a low risk population undergoing first and second trimester screening

    DEFF Research Database (Denmark)

    Jørgensen, Ditte E S; Vejlstrup, Niels; Jørgensen, Connie

    2015-01-01

    OBJECTIVES: The prenatal detection rate of congenital heart disease (CHD) is low compared with other fetal malformations. Our aim was to evaluate the prenatal detection of CHD in Eastern Denmark. METHODS: Fetuses and infants diagnosed with CHD in the period 01.01.2008-31.12.2010 were assessed...

  14. Prenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis

    Science.gov (United States)

    Theofanakis, Charalampos; Theodora, Marianna; Sindos, Michail; Daskalakis, George

    2017-01-01

    Abstract Rationale: Sirenomelia and anencephaly are well-defined congenital malformations that usually occur independently. Patient concerns: We report a case of combined sirenomelia, anencephaly and complete rachischisis, diagnosed in the 16th week of gestation. Diagnoses: To our knowledge, this is the 7th case in the literature and the first that is diagnosed so early in pregnancy. Interventions: The final diagnosis is confirmed with radiological examination after the termination of pregnancy. Outcomes: Prenatal diagnosis of sirenomelia is difficult due to the presence of kidney agenesis and severe oligohydramnios. Lessons: The combination of sirenomelia and craniorachischisis totalis is extremely rare and prenatal ultrasound scan are a challenge, even for experts in the field. PMID:29390297

  15. Cytogenetically Unrelated Clones in Acute Myeloid Leukemia Showing Different Responses to Chemotherapy

    Directory of Open Access Journals (Sweden)

    Kohei Kasahara

    2016-01-01

    Full Text Available We report a case of acute myeloid leukemia (AML with two cytogenetically unrelated clones. The patient was a 45-year-old male who was diagnosed with acute monoblastic leukemia (AMoL. Initial G-band analysis showed 51,XY,+6,+8,inv(9(p12q13c,+11,+13,+19[12]/52,idem,+Y[8], but G-band analysis after induction therapy showed 45,XY,-7,inv(9(p12q13c[19]/46,XY,inv(9(p12q13c[1]. Retrospective FISH analysis revealed a cryptic monosomy 7 clone in the initial AML sample. The clone with multiple trisomies was eliminated after induction therapy and never recurred, but a clone with monosomy 7 was still detected in myelodysplastic marrow with a normal blast percentage. Both clones were successfully eliminated after related peripheral blood stem cell transplantation, but the patient died of relapsed AML with monosomy 7. We concluded that one clone was de novo AMoL with chromosome 6, 8, 11, 13, and 19 trisomy and that the other was acute myeloid leukemia with myelodysplasia-related changes (AML-MRC with chromosome 7 monosomy showing different responses to chemotherapy. Simultaneous onset of cytogenetically unrelated hematological malignancies that each have a different disease status is a rare phenomenon but is important to diagnose for a correct understanding of the disease status and for establishing an appropriate treatment strategy.

  16. Cytogenetic dosimetry in suspected cases of ionizing radiation occupational exposure

    International Nuclear Information System (INIS)

    Ramalho, Adriana T.; Costa, Maria Lucia P.; Oliveira, Monica S.; Silva, Francisco Cesar A. da

    2001-01-01

    Cytogenetic dosimetry is very useful in routine as well as in serious accident situations in which exposed individuals do not wear physical dosimeters. Since 1984, the technique of cytogenetic dosimetry has been used as a routine in our laboratory at IRD/CNEN to complement the data of physical dosimetry. In the period from 1984 to 2000, 138 cases of occupational overexposure of individual dosimeters were investigated by us. In total, only in 36 of the 138 cases investigated the overexposure was confirmed by cytogenetic dosimetry. The data indicates a total confirmation index of just 26% of the suspected cases.(author)

  17. Quality assessment of prenatal cytogenetic diagnosis : some guidelines for handling amniotic fluid and chorionic villus material

    NARCIS (Netherlands)

    Sikkema-Raddatz, Birgit

    2005-01-01

    Ongeveer 1 op de 200 baby's wordt geboren met een chromosoomafwijking. De gevolgen daarvan kunnen sterk uiteenlopen, van verwaarloosbaar (het kind zal er in zijn of haar ontwikkeling geen last van ondervinden) tot aan 'niet levensvatbaar'. Veel chromosomale afwijkingen blijken gepaard te gaan met

  18. Semiautomatic digital imaging system for cytogenetic analysis

    International Nuclear Information System (INIS)

    Chaubey, R.C.; Chauhan, P.C.; Bannur, S.V.; Kulgod, S.V.; Chadda, V.K.; Nigam, R.K.

    1999-08-01

    The paper describes a digital image processing system, developed indigenously at BARC for size measurement of microscopic biological objects such as cell, nucleus and micronucleus in mouse bone marrow; cytochalasin-B blocked human lymphocytes in-vitro; numerical counting and karyotyping of metaphase chromosomes of human lymphocytes. Errors in karyotyping of chromosomes by the imaging system may creep in due to lack of well-defined position of centromere or extensive bending of chromosomes, which may result due to poor quality of preparation. Good metaphase preparations are mandatory for precise and accurate analysis by the system. Additional new morphological parameters about each chromosome have to be incorporated to improve the accuracy of karyotyping. Though the experienced cytogenetisist is the final judge; however, the system assists him/her to carryout analysis much faster as compared to manual scoring. Further, experimental studies are in progress to validate different software packages developed for various cytogenetic applications. (author)

  19. Application of mammalian cytogenetics to mutagenicity studies

    International Nuclear Information System (INIS)

    Brewen, J.G.

    1977-01-01

    Studies on induction of chromosome damage in germ cells by triethylene melamine (TEM) included determination of frequencies of chromosomal aberrations observed in human leukocytes after treating different stages of the cell cycle with TEM, frequencies of chromatid aberrations in metaphase I oocytes and the female pronuclear chromosomes following treatment of female mice with TEM, and frequencies of labeled diplotene-diakinesis figures and chromosome abberations at various intervals after treatment of primary spermatocytes with TEM and 3 H-thymidine. Studies on effects of low linear energy transfer radiation on mouse oocytes showed that the frequency of aberrations increased as a function of time and remained constant 8 to 9 days post-exposure. It was concluded that cytogenetic procedures were adequate to evaluate certain mutagenic end points

  20. Human prenatal diagnosis

    International Nuclear Information System (INIS)

    Filkins, K.; Russo, R.J.

    1985-01-01

    The multiauthor text is written as a ''guide to rationalize and clarify certain aspects of diagnosis, general counseling and intervention'' for ''health professionals who provide care to pregnant women.'' The text is not aimed at the ultrasonographer but rather at the physicians who are clinically responsible for patient management. Chapters of relevance to radiologists include an overview of prenatal screening and counseling, diagnosis of neural tube defects, ultrasonographic (US) scanning of fetal disorders in the first and second trimesters of pregnancy, US scanning in the third trimester, multiple gestation and selective termination, fetal echo and Doppler studies, and fetal therapy. Also included are overviews of virtually all currently utilized prenatal diagnostic techniques including amniocentesis, fetal blood sampling, fetoscopy, recombinant DNA detection of hemoglobinopathies, chorionic villus sampling, embryoscopy, legal issues, and diagnosis of Mendelian disorders by DNA analysis

  1. Prenatal Diagnosis of Transposition of the Great Arteries over a 20-Year Period: Improved but Imperfect

    Science.gov (United States)

    Escobar-Diaz, Maria C; Freud, Lindsay R; Bueno, Alejandra; Brown, David W; Friedman, Kevin; Schidlow, David; Emani, Sitaram; del Nido, Pedro; Tworetzky, Wayne

    2015-01-01

    Objective To evaluate temporal trends in prenatal diagnosis of transposition of the great arteries with intact ventricular septum (TGA/IVS) and its impact on neonatal morbidity and mortality. Methods Newborns with TGA/IVS referred for surgical management to our center over a 20-year period (1992 – 2011) were included. The study time was divided into 5 four-year periods, and the primary outcome was rate of prenatal diagnosis. Secondary outcomes included neonatal pre-operative status and perioperative survival. Results Of the 340 patients, 81 (24%) had a prenatal diagnosis. Prenatal diagnosis increased over the study period from 6% to 41% (p<0.001). Prenatally diagnosed patients underwent a balloon atrial septostomy (BAS) earlier than postnatally diagnosed patients (0 vs. 1 day, p<0.001) and fewer required mechanical ventilation (56% vs. 69%, p=0.03). There were no statistically significant differences in pre-operative acidosis (16% vs. 26%, p=0.1) and need for preoperative ECMO (2% vs. 3%, p=1.0). There was also no significant mortality difference (1 pre-operative and no post-operative deaths among prenatally diagnosed patients, as compared to 4 pre-operative and 6 post-operative deaths among postnatally diagnosed patients). Conclusion The prenatal detection rate of TGA/IVS has improved but still remains below 50%, suggesting the need for strategies to increase detection rates. The mortality rate was not statistically different between pre- and postnatally diagnosed patients; however, there were significant pre-operative differences with regard to earlier BAS and less mechanical ventilation. Ongoing study is required to elucidate whether prenatal diagnosis confers long-term benefit. PMID:25484180

  2. Prenatal testosterone and stuttering.

    Science.gov (United States)

    Montag, Christian; Bleek, Benjamin; Breuer, Svenja; Prüss, Holger; Richardt, Kirsten; Cook, Susanne; Yaruss, J Scott; Reuter, Martin

    2015-01-01

    The prevalence of stuttering is much higher in males compared to females. The biological underpinnings of this skewed sex-ratio is poorly understood, but it has often been speculated that sex hormones could play an important role. The present study investigated a potential link between prenatal testosterone and stuttering. Here, an indirect indicator of prenatal testosterone levels, the Digit Ratio (2D:4D) of the hand, was used. As numerous studies have shown, hands with more "male" characteristics (putatively representing greater prenatal testosterone levels) are characterized by a longer ring finger compared to the index finger (represented as a lower 2D:4D ratio) in the general population. We searched for differences in the 2D:4D ratios between 38 persons who stutter and 36 persons who do not stutter. In a second step, we investigated potential links between the 2D:4D ratio and the multifaceted symptomatology of stuttering, as measured by the Overall Assessment of the Speaker's Experience of Stuttering (OASES), in a larger sample of 44 adults who stutter. In the first step, no significant differences in the 2D:4D were observed between individuals who stutter and individuals who do not stutter. In the second step, 2D:4D correlated negatively with higher scores of the OASES (representing higher negative experiences due to stuttering), and this effect was more pronounced for female persons who stutter. The findings indicate for the first time that prenatal testosterone may influence individual differences in psychosocial impact of this speech disorder. Copyright © 2014 Elsevier Ltd. All rights reserved.

  3. Additional cytogenetic abnormalities and variant t(9;22) at the diagnosis of childhood chronic myeloid leukemia

    DEFF Research Database (Denmark)

    Millot, Frédéric; Dupraz, Christelle; Guilhot, Joelle

    2017-01-01

    for Chronic Myeloid Leukemia in Children and Adolescents. RESULTS: Overall, 19 children (6.3%) presented with additional cytogenetic findings at diagnosis: 5 children (1.7%) had a variant t(9;22) translocation, 13 children (4.3%) had ACAs, and 1 had both. At 3 years, for children with a classic translocation......BACKGROUND: In the adult population with newly diagnosed chronic myeloid leukemia (CML), variant translocations are usually not considered to be impairing the prognosis, whereas some additional cytogenetic abnormalities (ACAs) are associated with a negative impact on survival. Because of the rarity...... of CML in the pediatric population, such abnormalities have not been investigated in a large group of children with CML. METHODS: The prognostic relevance of variant t(9;22) and ACAs at diagnosis was assessed in 301 children with CML in the chronic phase who were enrolled in the International Registry...

  4. Genes Underlying Positive Influence Of Prenatal Environmental ...

    African Journals Online (AJOL)

    Genes Underlying Positive Influence Of Prenatal Environmental Enrichment And ... Prenatal environmental enrichment (EE) has been proven to positively affect but ... Conclusion: The negative-positive prenatal effect could contribute to altered ...

  5. Prenatal diagnosis of Werdnig-Hoffmann disease in China

    Institute of Scientific and Technical Information of China (English)

    2003-01-01

    Objective To establish a means for prenatal prediction of spinal muscular atrophy (SMA) through survival motor neuron (SMN) gene deletion analysis and genetic counseling in families with a child affected with SMA. Methods Genetic analysis for prenatal prediction of Werdnig-Hoffmann disease was performed in a at risk Chinese family by polymerase chain reaction (PCR)-single-strand conformation polymorphism (SSCP) in SMN gene exons 7 and 8.Results The pregnancy was positive for the homozygous deletion of the SMN gene, thus the fetus was diagnosed as being affected and the pregnancy was terminated.Conclusion This approach is fast and reliable for DNA-based prenatal diagnosis of Werdnig-Hoffmann disease.

  6. Congenital anomalies: Impact of prenatal diagnosis on mode of delivery.

    LENUS (Irish Health Repository)

    Dempsey, M A

    2010-03-01

    An important aspect of prenatal diagnosis is the avoidance of emergency caesarean delivery (CD) where the abnormality is considered lethal and the infant will not survive. A consecutive cohort of 211,163 women delivered of infants weighing 500 grams or more in three tertiary referral centers from 01\\/95 to 12\\/04, was analyzed for perinatal death attributed to congenital malformations. In the group that died in the neonatal period, the emergency CD rate was significantly lower where anomaly was detected versus undetected (17.5% versus 31%). Further, in contrast to undiagnosed anomalies, the indication for emergency CD was more often maternal in the diagnosed group (42% versus 19%, p=0.019). When a diagnosis of lethal congenital anomaly has been made in the prenatal period, the reduction in the emergency CD rate by almost half in this study supports a pivotal role for prenatal diagnosis in optimizing maternal care.

  7. Cytogenetic, genomic in situ hybridization (GISH) and agronomic ...

    African Journals Online (AJOL)

    F3 generations of a wheat-Psathyrostachys huashanica intergeneric cross. Their agronomic traits were evaluated in the field and their meiotic behaviors and chromosome composition were analyzed by cytogenetic and GISH (genomic in situ ...

  8. 42 CFR 493.1276 - Standard: Clinical cytogenetics.

    Science.gov (United States)

    2010-10-01

    ... SERVICES (CONTINUED) STANDARDS AND CERTIFICATION LABORATORY REQUIREMENTS Quality System for Nonwaived Testing Analytic Systems § 493.1276 Standard: Clinical cytogenetics. (a) The laboratory must have policies and procedures for ensuring accurate and reliable patient specimen identification during the process...

  9. Cytogenetic biological dosimetry. Dose estimative in accidental exposure

    International Nuclear Information System (INIS)

    Santos, O.R. dos; Campos, I.M.A. de.

    1988-01-01

    The methodology of cytogenetic biological dosimetry is studied. The application in estimation of dose in five cases of accidental exposure is reported. An hematological study and culture of lymphocytes is presented. (M.A.C.) [pt

  10. Cytogenetic analysis in couples with recurrent miscarriages: a ...

    Indian Academy of Sciences (India)

    Journal of Genetics, DOI 10.1007/s12041-016-0713-3, Vol. 95, No. ... After taking the written informed consent; clinical and med- ical history was .... Cytogenetic investigations in ..... outcomes have been reported after surgical interventions.

  11. Interphase fluorescence in situ hybridization analysis detects a much higher rate of thyroid tumors with clonal cytogenetic deviations of the main cytogenetic subgroups than conventional cytogenetics.

    Science.gov (United States)

    Drieschner, Norbert; Rippe, Volkhard; Laabs, Anne; Dittberner, Lea; Nimzyk, Rolf; Junker, Klaus; Rommel, Birgit; Kiefer, Yvonne; Belge, Gazanfer; Bullerdiek, Jörn; Sendt, Wolfgang

    2011-07-01

    In benign thyroid lesions, three main cytogenetic subgroups, characterized by trisomy 7 or structural aberrations involving either chromosomal region 19q13.4 or 2p21, can be distinguished by conventional cytogenetics (CC). As a rule, these aberrations seem to be mutually exclusive. Interphase fluorescence in situ hybridization (I-FISH) analysis on benign as well as malignant thyroid neoplasias has been performed in the past, but rarely in combination with CC. In the present paper, we have analyzed 161 benign thyroid lesions both with CC and I-FISH on touch preparations by using a multi-target, triple-color FISH assay as well as dual-color break-apart probes for detection of the main cytogenetic subgroups. Within the samples, I-FISH detected tumors belonging to either of the subgroups more frequently than CC (23 vs. 11.4%), either due to small subpopulations of aberrant cells or to cryptic chromosomal rearrangements (three cases). Thus, I-FISH seems to be more sensitive than CC, particularly in the detection of subpopulations of cells harboring cytogenetic aberrations that may be overlooked by CC. In summary, I-FISH on touch preparations of benign thyroid lesions seems to be a favorable method for cytogenetic subtyping of thyroid lesions. Copyright © 2011 Elsevier Inc. All rights reserved.

  12. Calculations in cytogenetic dosimetry by means of the dosgen program

    International Nuclear Information System (INIS)

    Garcia Lima, O.; Zerquera, J.T.

    1996-01-01

    The DOSGEN program sums up the different calculations routing that are more often used in cytogenetic dosimetry. It can be implemented in a compatible IBM PC by cytogenetic experts having a basic knowledge of computing. The programs has been successfully applied using experimental data and its advantages have been acknowledge by Latin American and Asian Laboratories dealing with this medical branch. The program is written in Pascal Language and requires 42 K bytes

  13. MOLECULAR CYTOGENETICS OF LYMPHOMA. WHERE DO WE STAND IN 2010?

    OpenAIRE

    2011-01-01

    Abstract Since approximately 20 years most malignant lymphomas are classified by the recognition of clinico-pathologic entities, each with its own combination of clinical, morphologic, immunophenotypic and molecular genetic characteristics. Obviously, in many instances molecular cytogenetics is of great help for classification and in some lymphomas it is even a prerequisite. Molecular cytogenetic alterations can be detected by a large variety of techniques, ranging from conventiona...

  14. Development and Application of Camelid Molecular Cytogenetic Tools

    Science.gov (United States)

    Avila, Felipe; Das, Pranab J.; Kutzler, Michelle; Owens, Elaine; Perelman, Polina; Rubes, Jiri; Hornak, Miroslav; Johnson, Warren E.

    2014-01-01

    Cytogenetic chromosome maps offer molecular tools for genome analysis and clinical cytogenetics and are of particular importance for species with difficult karyotypes, such as camelids (2n = 74). Building on the available human–camel zoo-fluorescence in situ hybridization (FISH) data, we developed the first cytogenetic map for the alpaca (Lama pacos, LPA) genome by isolating and identifying 151 alpaca bacterial artificial chromosome (BAC) clones corresponding to 44 specific genes. The genes were mapped by FISH to 31 alpaca autosomes and the sex chromosomes; 11 chromosomes had 2 markers, which were ordered by dual-color FISH. The STS gene mapped to Xpter/Ypter, demarcating the pseudoautosomal region, whereas no markers were assigned to chromosomes 14, 21, 22, 28, and 36. The chromosome-specific markers were applied in clinical cytogenetics to identify LPA20, the major histocompatibility complex (MHC)-carrying chromosome, as a part of an autosomal translocation in a sterile male llama (Lama glama, LGL; 2n = 73,XY). FISH with LPAX BACs and LPA36 paints, as well as comparative genomic hybridization, were also used to investigate the origin of the minute chromosome, an abnormally small LPA36 in infertile female alpacas. This collection of cytogenetically mapped markers represents a new tool for camelid clinical cytogenetics and has applications for the improvement of the alpaca genome map and sequence assembly. PMID:23109720

  15. Cytogenetic abnormalities in acute leukaemia of ambiguous lineage: an overview.

    Science.gov (United States)

    Manola, Kalliopi N

    2013-10-01

    Acute leukaemia of ambiguous lineage (ALAL) is a rare complex entity with heterogeneous clinical, immunophenotypic, cytogenetic and molecular genetic features and adverse outcome. According to World Health Organization 2008 classification, ALAL encompasses those leukaemias that show no clear evidence of differentiation along a single lineage. The rarity of ALAL and the lack of uniform diagnostic criteria have made it difficult to establish its cytogenetic features, although cytogenetic analysis reveals clonal chromosomal abnormalities in 59-91% of patients. This article focuses on the significance of cytogenetic analysis in ALAL supporting the importance of cytogenetic analysis in the pathogenesis, diagnosis, prognosis, follow up and treatment selection of ALAL. It reviews in detail the types of chromosomal aberrations, their molecular background, their correlation with immunophenotype and age distribution and their prognostic relevance. It also summarizes some novel chromosome aberrations that have been observed only once. Furthermore, it highlights the ongoing and future research on ALAL in the field of cytogenetics. © 2013 John Wiley & Sons Ltd.

  16. Role of DNA repair in repair of cytogenetic damages. Slowly repaired DNA injuries involved in cytogenetic damages repair

    International Nuclear Information System (INIS)

    Zaichkina, S.I.; Rozanova, O.M.; Aptikaev, G.F.; Ganassi, E.Eh.

    1989-01-01

    Caffeine was used to study the kinetics of cytogenetic damages repair in Chinese hamster fibroblasts. Its half-time (90 min) was shown to correlate with that of repair of slowly repaired DNA damages. The caffeine-induced increase in the number of irreparable DNA damages, attributed to inhibition of double-strand break repair, is in a quantitative correlation with the effect of the cytogenetic damage modification

  17. Secondary myeloid neoplasms: bone marrow cytogenetic and histological features may be relevant to prognosis

    Directory of Open Access Journals (Sweden)

    Roberta Sandra da Silva Tanizawa

    Full Text Available Abstract Background: Secondary myeloid neoplasms comprise a group of diseases arising after chemotherapy, radiation, immunosuppressive therapy or from aplastic anemia. Few studies have addressed prognostic factors in these neoplasms. Method: Forty-two patients diagnosed from 1987 to 2008 with secondary myeloid neoplasms were retrospectively evaluated concerning clinical, biochemical, peripheral blood, bone marrow aspirate, biopsy, and immunohistochemistry and cytogenetic features at diagnosis as prognostic factors. The International Prognostic Scoring System was applied. Statistical analysis employed the Kaplan–Meier method, log-rank and Fisher's exact test. Results: Twenty-three patients (54.8% were male and the median age was 53.5 years (range: 4–88 years at diagnosis of secondary myeloid neoplasms. Previous diseases included hematologic malignancies, solid tumors, aplastic anemia, autoimmune diseases and conditions requiring solid organ transplantations. One third of patients (33% were submitted to chemotherapy alone, 2% to radiotherapy, 26% to both modalities and 28% to immunosuppressive agents. Five patients (11.9% had undergone autologous hematopoietic stem cell transplantation. The median latency between the primary disease and secondary myeloid neoplasms was 85 months (range: 23–221 months. Eight patients were submitted to allogeneic hematopoietic stem cell transplantation to treat secondary myeloid neoplasms. Important changes in bone marrow were detected mainly by biopsy, immunohistochemistry and cytogenetics. The presence of clusters of CD117+ cells and p53+ cells were associated with low survival. p53 was associated to a higher risk according to the International Prognostic Scoring System. High prevalence of clonal abnormalities (84.3% and thrombocytopenia (78.6% were independent factors for poor survival. Conclusion: This study demonstrated that cytogenetics, bone marrow biopsy and immunohistochemistry are very important

  18. Impact of prenatal screening on the prevalence of Down syndrome in Slovenia.

    Directory of Open Access Journals (Sweden)

    Gorazd Rudolf

    Full Text Available To evaluate the impact of prenatal screening and genetic testing for trisomy 21 (T21 on the prevalence of T21 in Slovenia.Data about all prenatally and postnatally confirmed cases of T21 in Slovenia between 1981 and 2012 were collected retrospectively from all genetic laboratories in Slovenia. The expected number of babies with T21 according to maternal age was calculated.The primary outcomes measures were number of fetuses and newborn infants with T21 diagnosed prenatally and postnatally and the impact of advances in screening and genetic diagnostics on the prevalence of newborns with T21 in Slovenia.Despite a significantly increased mean maternal age from 25.4 years in year 1981 to 30.3 years in year 2012 the prevalence of newborn infants with T21 was 0.51 per 1000 births compared to 0.55 per 1000 births, respectively. The prevalence of prenatally diagnosed cases increased from 0.03 per 1000 births to 2.06 per 1000. The detection rate of T21 in year 2012 was 78,9%. The total number of prenatal invasive procedures (chorionic villous sampling and amniocenteses carried out during that period was rising until 2002, since when it is stable at around 7%.The advancement and implementation of screening tests and prenatal diagnostic procedures in Slovenia caused an important improvement in the efficiency of the prenatal detection of T21.

  19. Impact of prenatal screening on the prevalence of Down syndrome in Slovenia.

    Science.gov (United States)

    Rudolf, Gorazd; Tul, Nataša; Verdenik, Ivan; Volk, Marija; Brezigar, Anamarija; Kokalj Vokač, Nadja; Jeršin, Nataša; Prosenc, Bernarda; Premru Sršen, Tanja; Peterlin, Borut

    2017-01-01

    To evaluate the impact of prenatal screening and genetic testing for trisomy 21 (T21) on the prevalence of T21 in Slovenia. Data about all prenatally and postnatally confirmed cases of T21 in Slovenia between 1981 and 2012 were collected retrospectively from all genetic laboratories in Slovenia. The expected number of babies with T21 according to maternal age was calculated. The primary outcomes measures were number of fetuses and newborn infants with T21 diagnosed prenatally and postnatally and the impact of advances in screening and genetic diagnostics on the prevalence of newborns with T21 in Slovenia. Despite a significantly increased mean maternal age from 25.4 years in year 1981 to 30.3 years in year 2012 the prevalence of newborn infants with T21 was 0.51 per 1000 births compared to 0.55 per 1000 births, respectively. The prevalence of prenatally diagnosed cases increased from 0.03 per 1000 births to 2.06 per 1000. The detection rate of T21 in year 2012 was 78,9%. The total number of prenatal invasive procedures (chorionic villous sampling and amniocenteses) carried out during that period was rising until 2002, since when it is stable at around 7%. The advancement and implementation of screening tests and prenatal diagnostic procedures in Slovenia caused an important improvement in the efficiency of the prenatal detection of T21.

  20. Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome

    Directory of Open Access Journals (Sweden)

    Lutgardo García-Díaz

    2013-01-01

    Full Text Available A case of prenatally diagnosed fetal hypertrophic cardiomyopathy is reported. The mother was referred to our department at 37 weeks' gestation because of suspected congenital heart disease. Prenatal echocardiography showed biventricular hypertrophy and pericardial effusion, without additional abnormalities. Postnatal echocardiography confirmed prenatal diagnosis. Neonatal EKG showed biventricular hypertrophy and Wolff-Parkinson-White syndrome. Skeletal muscle biopsy was consistent with mitochondrial oxidative phosphorylation defect involving a combined defect of respiratory complexes I and IV. Echocardiographic followup during the first year of life showed progressive regression of hypertrophy and evolution to left ventricular myocardial noncompaction.

  1. Prenatal ultrasonography of trisomy 18 with radial aplasia: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jee Young; Lee, Yeon Hee [Dankook University College of Medicine, Seoul (Korea, Republic of)

    2002-06-15

    Trisomy 18 (Edward syndrome) is the second most common chromosomal anomaly of the autosomal trisomy. Prenatal diagnosis of trisomy 18 is extremely important because of the complex malformations and lethal prognosis. Prenatal sonographic findings at 17 weeks of gestation showing radial aplasia with upper limb contracture, omphalocele, and suspicious esophageal atresia suggested the diagnosis and led to amniocentesis. Karyotyping revealed trisomy 18 (47 XX, +18, and characteristic autopsy findings were identified. We report a case of prenatally diagnosed trisomy 18 with a review of literatures.

  2. Prenatal ultrasonography of trisomy 18 with radial aplasia: A case report

    International Nuclear Information System (INIS)

    Lee, Jee Young; Lee, Yeon Hee

    2002-01-01

    Trisomy 18 (Edward syndrome) is the second most common chromosomal anomaly of the autosomal trisomy. Prenatal diagnosis of trisomy 18 is extremely important because of the complex malformations and lethal prognosis. Prenatal sonographic findings at 17 weeks of gestation showing radial aplasia with upper limb contracture, omphalocele, and suspicious esophageal atresia suggested the diagnosis and led to amniocentesis. Karyotyping revealed trisomy 18 (47 XX, +18, and characteristic autopsy findings were identified. We report a case of prenatally diagnosed trisomy 18 with a review of literatures.

  3. Prenatal Care: First Trimester Visits

    Science.gov (United States)

    ... care provider will discuss the importance of proper nutrition and prenatal vitamins. Your first prenatal visit is a good time to discuss exercise, sex during pregnancy and other lifestyle issues. You might also discuss your work environment and the use of medications during pregnancy. If ...

  4. Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4

    Directory of Open Access Journals (Sweden)

    Halit Akbas

    2013-01-01

    Full Text Available Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis. A 23-year-old patient (gravida 1, para 0 referred for amniocentesis due to abnormal maternal serum screening result in the 16th week of second pregnancy. Cytogenetic analysis of cultured amniyotic fluid cells revealed out ring chromosome 4. Both maternal and paternal karyotypes were normal. Terminal deletion was observed in both 4p and 4q arms of ring chromosome 4 by fluorescence in situ hybridization (FISH. However deletion was not observed in the WHS critical region of both normal and ring chromosome 4 by an additional FISH study. These results were confirmed by means of array-CGH showing terminal deletions on 4p16.3 (130 kb and 4q35.2 (2.449 Mb. In the 21th week of pregnancy, no gross anomalia, except two weeks symmetric growth retardation, was present in the fetal ultrasonographic examination. According to our review of literature, this is the first prenatal case with 4p and 4q subtelomeric deletion of ring chromosome 4 without the involvement of WHS critical region. Our report describes the prenatal case with a ring chromosome 4 abnormality completely characterized by array-CGH which provided complementary data for genetic counseling of prenatal diagnosis.

  5. Prenatal diagnosis of 4p and 4q subtelomeric microdeletion in de novo ring chromosome 4.

    Science.gov (United States)

    Akbas, Halit; Cine, Naci; Erdemoglu, Mahmut; Atay, Ahmet Engin; Simsek, Selda; Turkyilmaz, Aysegul; Fidanboy, Mehmet

    2013-01-01

    Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis. A 23-year-old patient (gravida 1, para 0) referred for amniocentesis due to abnormal maternal serum screening result in the 16th week of second pregnancy. Cytogenetic analysis of cultured amniyotic fluid cells revealed out ring chromosome 4. Both maternal and paternal karyotypes were normal. Terminal deletion was observed in both 4p and 4q arms of ring chromosome 4 by fluorescence in situ hybridization (FISH). However deletion was not observed in the WHS critical region of both normal and ring chromosome 4 by an additional FISH study. These results were confirmed by means of array-CGH showing terminal deletions on 4p16.3 (130 kb) and 4q35.2 (2.449 Mb). In the 21th week of pregnancy, no gross anomalia, except two weeks symmetric growth retardation, was present in the fetal ultrasonographic examination. According to our review of literature, this is the first prenatal case with 4p and 4q subtelomeric deletion of ring chromosome 4 without the involvement of WHS critical region. Our report describes the prenatal case with a ring chromosome 4 abnormality completely characterized by array-CGH which provided complementary data for genetic counseling of prenatal diagnosis.

  6. Value of prenatal MRI in early evaluation of fetal central nervous system anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Kobayashi, Keiichi [Kugayama Hospital, Tokyo (Japan); Nakamura, Masanao; Hino, Ken [Kyorin Univ., Mitaka, Tokyo (Japan). School of Medicine] [and others

    2002-08-01

    Advances in technology and the need for accurate prenatal diagnoses have produced great improvements in fetal diagnosis by MRI. However, there are still many problems with diagnosis of central nervous system (CNS) anomalies using MRI (e.g., time of diagnosis, factors limiting diagnostic ability. Fifteen cases referred to our clinic from 1992 to 2001 and examined using intrauterine ultrasound, prenatal MRI and postnatal MRI were reviewed retrospectively. All clinical records and findings from prenatal MRI, postnatal MRI and ultrasound were reviewed. Prenatal MRI was found to be equal in diagnostic power to ultrasound and postnatal MRI in 10 of the 15 cases. In the remaining 5 fetuses, the findings of prenatal MRI were not the same to those of prenatal ultrasound and postnatal MRI. Our goal was to determine the value of prenatal MRI in diagnosis of fetal CNS anomalies, to ascertain how this information might be used for counseling, and to assess its impact on pregnancy management. Prenatal MRI provided useful information for support personnel (e.g., physicians, nurses, caseworkers, religious advisers). (author)

  7. Human interphase chromosomes: a review of available molecular cytogenetic technologies

    Directory of Open Access Journals (Sweden)

    Yurov Yuri B

    2010-01-01

    Full Text Available Abstract Human karyotype is usually studied by classical cytogenetic (banding techniques. To perform it, one has to obtain metaphase chromosomes of mitotic cells. This leads to the impossibility of analyzing all the cell types, to moderate cell scoring, and to the extrapolation of cytogenetic data retrieved from a couple of tens of mitotic cells to the whole organism, suggesting that all the remaining cells possess these genomes. However, this is far from being the case inasmuch as chromosome abnormalities can occur in any cell along ontogeny. Since somatic cells of eukaryotes are more likely to be in interphase, the solution of the problem concerning studying postmitotic cells and larger cell populations is interphase cytogenetics, which has become more or less applicable for specific biomedical tasks due to achievements in molecular cytogenetics (i.e. developments of fluorescence in situ hybridization -- FISH, and multicolor banding -- MCB. Numerous interphase molecular cytogenetic approaches are restricted to studying specific genomic loci (regions being, however, useful for identification of chromosome abnormalities (aneuploidy, polyploidy, deletions, inversions, duplications, translocations. Moreover, these techniques are the unique possibility to establish biological role and patterns of nuclear genome organization at suprachromosomal level in a given cell. Here, it is to note that this issue is incompletely worked out due to technical limitations. Nonetheless, a number of state-of-the-art molecular cytogenetic techniques (i.e multicolor interphase FISH or interpahase chromosome-specific MCB allow visualization of interphase chromosomes in their integrity at molecular resolutions. Thus, regardless numerous difficulties encountered during studying human interphase chromosomes, molecular cytogenetics does provide for high-resolution single-cell analysis of genome organization, structure and behavior at all stages of cell cycle.

  8. Some problems and errors in cytogenetic biodosimetry

    International Nuclear Information System (INIS)

    Mosse, Irma; Kilchevsky, Alexander; Nikolova, Nevena; Zhelev, Nikolai

    2017-01-01

    Human radiosensitivity is a quantitative trait that is generally subject to binomial distribution. Individual radiosensitivity, however, may deviate significantly from the mean (by 2–3 standard deviations). Thus, the same dose of radiation may result in different levels of genotoxic damage (commonly measured as chromosome aberration rates) in different individuals. There is significant genetic component in individual radiosensitivity. It is related to carrier ship of variant alleles of various single-nucleotide polymorphisms (most of these in genes coding for proteins functioning in DNA damage identification and repair); carrier ship of a different number of alleles producing cumulative effects; amplification of gene copies coding for proteins responsible for radioresistance, mobile genetic elements and others. Among the other factors influencing individual radioresistance are: the radio adaptive response; the bystander effect; the levels of endogenous substances with radioprotective and antimutagenic properties and environmental factors such as lifestyle and diet, physical activity, psycho emotional state, hormonal state, certain drugs, infections and others. These factors may have radioprotective or sensitizing effects. Apparently, there are too many factors that may significantly modulate the biological effects of ionizing radiation. Thus, conventional methodologies for biodosimetry (specifically, cytogenetic methods) may produce significant errors if personal traits that may affect radioresistance are not accounted for

  9. Prenatal vitamins: what is in the bottle?

    Science.gov (United States)

    Duerbeck, Norman B; Dowling, David D; Duerbeck, Jillinda M

    2014-12-01

    Nearly all obstetricians routinely prescribe prenatal vitamins to their pregnant patients at the time of the first prenatal visit. Many times, patients' understanding of the health benefits of prenatal vitamins differs substantially from that of the prescribing physician. The following is a review of the most common ingredients found in prenatal vitamins and their purported health benefits.

  10. Prenatal Diagnosis and Genetic Counseling for Mosaic Trisomy 13

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2010-03-01

    Full Text Available Counseling parents of a fetus with trisomy 13 mosaicism remains difficult because of the phenotypic variability associated with the condition; some patients exhibit the typical phenotype of complete trisomy 13 with neonatal death, while others have few dysmorphic features and prolonged survival. This article provides a comprehensive review of the prenatal diagnosis and genetic counseling for mosaic trisomy 13, including confined placental mosaicism 13, mosaic trisomy 13 diagnosed at amniocentesis, and phylloid hypomelanosis in association with mosaic trisomy 13.

  11. In vivo synergistic cytogenetic effects of aminophylline on lymphocyte cultures from patients with lung cancer undergoing chemotherapy

    International Nuclear Information System (INIS)

    Mylonaki, Effie; Manika, Katerina; Zarogoulidis, Paul; Domvri, Kalliopi; Voutsas, Vasilis; Zarogoulidis, Kostas; Mourelatos, Dionysios

    2012-01-01

    Highlights: ► SCEs in vivo, a possible predictor of tumor chemoresponse. ► In vivo exposure to combined treatment, applying the SCE assay. ► Aminophylline enhances DNA instability induced by chemotherapy in vivo. ► In vivo synergistic effect of Aminophylline with the chemotherapeutic agents. - Abstract: Background: The anti-cancer and cytogenetic effects of aminophylline (AM) have been demonstrated in several clinical trials. The aim of the present study was to investigate the in vivo cytogenetic effects of AM in newly diagnosed patients with small cell (SCLC) and non-small cell lung cancer (NSCLC), receiving chemotherapy for the first time. Methods: Sister chromatid exchanges (SCEs) and proliferation rate index (PRI) were evaluated in peripheral blood lymphocyte cultures from six patients with SCLC and six patients with NSCLC after the in vitro addition of AM and after the in vivo administration of AM in patients receiving chemotherapy. Results: The in vitro addition of AM significantly increased SCEs only in SCLC patients (p 0.05). Conclusions: These observations suggest that AM enhances the results of concurrently administered chemotherapy by synergistically increasing its cytogenetic effects in patients with lung cancer

  12. Additional cytogenetic abnormalities and variant t(9;22) at the diagnosis of childhood chronic myeloid leukemia : The experience of the International Registry for Chronic Myeloid Leukemia in Children and Adolescents

    NARCIS (Netherlands)

    Millot, Frederic; Dupraz, Christelle; Guilhot, Joelle; Suttorp, Meinolf; Brizard, Francoise; Leblanc, Thierry; Gunes, Adalet Meral; Sedlacek, Petr; De Bont, Evelyne; Li, Chi Kong; Kalwak, Krzysztof; Lausen, Birgitte; Culic, Srdjana; Dworzak, Michael; Kaiserova, Emilia; De Moerloose, Barbara; Roula, Farah; Biondi, Andrea; Baruchel, Andre; Guilhot, Francois

    2017-01-01

    BACKGROUND: In the adult population with newly diagnosed chronic myeloid leukemia (CML), variant translocations are usually not considered to be impairing the prognosis, whereas some additional cytogenetic abnormalities (ACAs) are associated with a negative impact on survival. Because of the rarity

  13. Rapid-prenatal diagnosis through fluorescence in situ hybridization for preventing aneuploidy related birth defects.

    Science.gov (United States)

    Fauzdar, Ashish; Chowdhry, Mohit; Makroo, R N; Mishra, Manoj; Srivastava, Priyanka; Tyagi, Richa; Bhadauria, Preeti; Kaul, Anita

    2013-01-01

    Women with high-risk pregnancies are offered prenatal diagnosis through amniocentesis for cytogenetic analysis of fetal cells. The aim of this study was to evaluate the effectiveness of the rapid fluorescence in situ hybridization (FISH) technique for detecting numerical aberrations of chromosomes 13, 21, 18, X and Y in high-risk pregnancies in an Indian scenario. A total of 163 samples were received for a FISH and/or a full karyotype for prenatal diagnosis from high-risk pregnancies. In 116 samples both conventional culture techniques for getting karyotype through G-banding techniques were applied in conjunction to FISH test using the AneuVysion kit (Abbott Molecular, Inc.), following standard recommended protocol to compare the both the techniques in our setup. Out of 116 patients, we got 96 normal for the five major chromosome abnormality and seven patients were found to be abnormal (04 trisomy 21, 02 monosomy X, and 01 trisomy 13) and all the FISH results correlated with conventional cytogenetics. To summarize the results of total 163 patients for the major chromosomal abnormalities analyzed by both/or cytogenetics and FISH there were 140 (86%) normal, 9 (6%) cases were abnormal and another 4 (2.5%) cases were suspicious mosaic and 10 (6%) cases of culture failure. The diagnostic detection rate with FISH in 116 patients was 97.5%. There were no false-positive and false-negative autosomal or sex chromosomal results, within our established criteria for reporting FISH signals. Rapid FISH is a reliable and prompt method for detecting numerical chromosomal aberrations and has now been implemented as a routine diagnostic procedure for detection of fetal aneuploidy in India.

  14. Cytogenetic characterization of Hypostomus nigromaculatus (Siluriformes: Loricariidae

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    Marceléia Rubert

    Full Text Available Hypostomus is the most speciose genus in the family Loricariidae, with approximately 120 species. These fish show a wide morphological and color variation, which hinders the identification of species, mainly of widely distributed representatives. The aim of this study was to contribute to the current knowledge on cytogenetic features of Hypostomus nigromaculatus. Three specimens of H. nigromaculatus, collected in two tributaries of rio Tibagi, Paraná, and in Cachoeira de Emas, rio Mogi-Guaçu, São Paulo, the latter being the type locality of H. nigromaculatus, were studied. Chromosomal preparations were submitted to Giemsa staining, silver nitrate impregnation, C-banding and CMA3 and DAPI fluorochromes staining. All samples presented 2n = 76, but the rio Mogi-Guaçu sample differed from those from tributaries of rio Tibagi in relation to karyotype formulae, distribution and composition of heterochromatin, and NOR location. The silver nitrate staining revealed the presence of multiple Ag-NORs for all samples, but with differences on the location on chromosomes. CMA3 staining reveled bright signals equivalent to NOR-bearing chromosomal segments; such sites were characterized by negative, i.e. unstained, marks after DAPI staining. The pattern of heterochromatin distribution was distinctive among samples from rio Mogi-Guaçu and tributaries of rio Tibagi. The differences observed between the sample from rio Mogi-Guaçu and the ones from tributaries of rio Tibagi allow us to suggest that these samples are presently isolated. Further analyses are necessary to ascertain whether such isolation refers to distinct populations or characterizes true different species.

  15. Early prenatal syphilis

    Directory of Open Access Journals (Sweden)

    Santosh Rathod

    2010-01-01

    Full Text Available Syphilis in pregnancy still remains a challenge despite the availability of adequate diagnostic tests for serological screening and penicillin therapy. We report a case of 2 month old female infant who presented with runny nose, papulosquamous lesions over both palms and soles and perianal erosions since 1 month after birth. Cutaneous examination revealed moist eroded areas in the perianal region and fine scaly lesions over palms and soles. Radiograph of both upper limbs and limbs revealed early periosteal changes in lower end of humerus and lower end of tibia. Diagnosis of early pre-natal syphilis was confirmed by Child′s Serum Rapid Plasma Reagin Antibody test [S.RPR] being positive with 1:64 dilution while that of mother was 1:8.

  16. Role of cytogenetic techniques in biological dosimetry of absorbed radiation

    International Nuclear Information System (INIS)

    Rao, B.S.

    2016-01-01

    In most of the radiation accidents, physical dosimetric information is rarely available. Further, most of the accidental exposures are non-uniform involving either partial body or localized exposure to significant doses. In such situations, physical dosimetry does not provide reliable dose estimate. It has now been realized that biological dosimetric techniques can play an important role in the assessment of absorbed dose. In recent years, a number of biological indicators of radiation have been identified. These include the kinetics of onset and persistence of prodromal syndromes (radiation sickness), cytogenetic changes in peripheral blood lymphocytes, hematological changes, biochemical indicators, ESR spectroscopy of biological samples, induction of gene mutations in red blood cells, cytogenetic and physiological changes in skin and neurophysiological changes. In general, dosimetric information is derived by a combination of several different methods, as they have potential to serve as prognostic indicators. The role of cytogenetic techniques in peripheral blood lymphocytes (PBL) as biological indicators of absorbed radiation is reviewed here

  17. Cytogenetic abnormalities in Tunisian women with premature ovarian failure.

    Science.gov (United States)

    Ayed, Wiem; Amouri, Ahlem; Hammami, Wajih; Kilani, Olfa; Turki, Zinet; Harzallah, Fatma; Bouayed-Abdelmoula, Nouha; Chemkhi, Imen; Zhioua, Fethi; Slama, Claude Ben

    2014-12-01

    To identify the distribution of chromosome abnormalities among Tunisian women with premature ovarian failure (POF) referred to the department of Cytogenetic at the Pasteur Institute of Tunis (Tunisia), standard cytogenetic analysis was carried out in a total of 100 women younger than 40 affected with premature ovarian failure. We identified 18 chromosomal abnormalities, including seven X-numerical anomalies in mosaic and non-mosaic state (45,X; 47,XXX), four sex reversal, three X-structural abnormalities (terminal deletion and isochromosomes), one autosomal translocation and one supernumerary marker. The overall prevalence of chromosomal abnormalities was 18% in our cohort. X chromosome aneuploidy was the most frequent aberration. This finding confirms the essential role of X chromosome in ovarian function and underlies the importance of cytogenetic investigations in the routine management of POF. Copyright © 2014 Académie des sciences. Published by Elsevier SAS. All rights reserved.

  18. Cytogenetic analysis after evaluation of 750 fetal deaths : proposal for diagnostic workup

    NARCIS (Netherlands)

    Korteweg, Fleurisca J.; Bouman, Katelijne; Erwich, Jan Jaap H. M.; Timmer, Albertus; Veeger, Nic J. G. M.; Ravise, Joke M.; Nijman, Thomas H.; Holm, Andjozien P.

    OBJECTIVE: To estimate success rates for cytogenetic analysis in different tissues after intrauterine fetal death, and study selection criteria and value of cytogenetic testing in determining cause of death. METHODS: Cytogenetic analyses and the value of this test in determining cause by a

  19. 75 FR 32484 - Array-Based Cytogenetic Tests: Questions on Performance Evaluation, Result Reporting and...

    Science.gov (United States)

    2010-06-08

    ...] Array-Based Cytogenetic Tests: Questions on Performance Evaluation, Result Reporting and Interpretation... public meeting: Array-Based Cytogenetic Tests: Questions on Performance Evaluation, Result Reporting and... cytogenetic tests. Date and Time: The meeting will be held on June 30, 2010, from 1:30 p.m. to 5 p.m. Location...

  20. Detection of chromosomal changes in chronic lymphocytic leukemia using classical cytogenetic methods and FISH: application of rich mitogen mixtures for lymphocyte cultures.

    Science.gov (United States)

    Koczkodaj, Dorota; Popek, Sylwia; Zmorzyński, Szymon; Wąsik-Szczepanek, Ewa; Filip, Agata A

    2016-04-01

    One of the research methods of prognostic value in chronic lymphocytic leukemia (CLL) is cytogenetic analysis. This method requires the presence of appropriate B-cell mitogens in cultures in order to obtain a high mitotic index. The aim of our research was to determine the most effective methods of in vitro B-cell stimulation to maximize the number of metaphases from peripheral blood cells of patients with CLL for classical cytogenetic examination, and then to correlate the results with those obtained using fluorescence in situ hybridization (FISH). The study group involved 50 consecutive patients with CLL. Cell cultures were maintained with the basic composition of culture medium and addition of respective stimulators. We used the following stimulators: Pokeweed Mitogen (PWM), 12-O-tetradecanoylphorbol 13-acetate (TPA), ionophore, lipopolysaccharide (LPS), and CpG-oligonucleotide DSP30. We received the highest mitotic index when using the mixture of PWM+TPA+I+DSP30. With classical cytogenetic tests using banding techniques, numerical and structural aberrations of chromosomes were detected in 46 patients, and no change was found in only four patients. Test results clearly confirmed the legitimacy of using cell cultures enriched with the mixture of cell stimulators and combining classical cytogenetic techniques with the FISH technique in later patient diagnosing. Copyright © 2016 American Federation for Medical Research.

  1. Trisomy 9 Mosaicism Diagnosed In Utero

    Directory of Open Access Journals (Sweden)

    Hironori Takahashi

    2010-01-01

    Full Text Available We present three cases of trisomy 9 mosaicism diagnosed by amniocentesis with ongoing pregnancies after referral to our center due to fetal abnormalities. Two cases were associated with severe fetal growth restriction (FGR, each of which resulted in an intrauterine fetal demise (IUFD in the third trimester. The other case involved mild FGR with a congenital diaphragmatic hernia and resulted in a live birth with severe development delay. A major prenatal finding of trisomy 9 mosaicism is FGR. Fetuses with trisomy 9 mosaicism can rarely survive in the case of severe FGR.

  2. Granulocytic sarcoma in a patient with chronic myeloid leukaemia in complete haematological, cytogenetic and molecular remission.

    Science.gov (United States)

    Kittai, Adam; Yu, Eun-Mi; Tabbara, Imad

    2014-12-23

    Granulocytic sarcoma, also known as myeloid sarcoma, is an extramedullary tumour composed of immature myeloid cells. Granulocytic sarcoma is typically found in patients with acute myeloid leukaemia, accelerated phase or blast crisis of chronic myeloid leukaemia, myelodysplastic syndrome, or as an isolated event without bone marrow involvement. We present a case of granulocytic sarcoma in a patient with chronic myeloid leukaemia in the setting of complete haematological, molecular and cytogenetic remission. Our patient was first treated with imatinib for chronic-phase chronic myeloid leukaemia. After maintaining remission for 42 months, he developed a granulocytic sarcoma in his spine. In this case report, we describe our case, along with the three other cases reported in the literature. In addition to being a rare diagnosis, this case demonstrates the importance of being vigilant in diagnosing the cause of back pain and atypical symptoms in patients with a history of leukaemia. 2014 BMJ Publishing Group Ltd.

  3. Prenatal detection of congenital renal malformations by fetal ultrasonographic examination : An analysis of 709,030 births in 12 European countries

    NARCIS (Netherlands)

    Wiesel, A.; Queisser-Luft, A.; Clementi, M.; Bianca, S.; Stoll, C.; de Walle, H.E.K.

    2005-01-01

    The study was performed to evaluate the prevalence of prenatal ultrasound diagnoses for renal anomalies in 20 registries of 12 European countries, and to compare the different prenatal scanning policies. Standardized data were acquired from 709,030 livebirths, stillbirths, and induced abortions

  4. Cytogenetic characterization of Encyclia caximboensis cultivated in vitro (Orchidaceae)

    OpenAIRE

    Gizelly Mendes Silva; Tatiane Lemos Varella; Kaliane Maximiliano Cruz; Ilio Fealho Carvalho; Isane Vera Karsburg; Maurecilne Lemes Silva

    2015-01-01

    Encyclia caximboensis is an Amazonian species endemic to the Serra do Cachimbo, which is located between the northern of the Mato Grosso state and the southern part of Para state. Studies reporting in vitro cultivation and cytogenetic characterization of this species are still scarce. Therefore, the objective of this work was to determine the cytogenetic characteristics and to identify the nucleolar organizer regions (NORs) of the species E. Caximboensis, cultivated in vitro. Seeds of E. caxi...

  5. Cytogenetic studies in workers with chronic occupational radiation exposure

    International Nuclear Information System (INIS)

    Grynszpan, D.

    1989-01-01

    The technique of chromosomal aberration detection on peripheral lymphocytes blood samples from monazite industry workers was used to study the cytogenetic effect of low chronic radiation doses. Cells from 51 workers and 21 controls were analysed. Cytogenetic data from individuals from different working areas were statistically compared among themselves and with the control group. The possible correlations between chromosomal aberration frequencies and cumulative external dose and working time were investigated. The influence of smoking was also tested. The link to the wives spontaneous abortions was analysed. Our results indicate possible biological effects on this sample of workers. (author)

  6. A 11.7-Mb Paracentric Inversion in Chromosome 1q Detected in Prenatal Diagnosis Associated with Familial Intellectual Disability.

    Science.gov (United States)

    Rigola, Maria A; Baena, Neus; Català, Vicenç; Lozano, Iris; Gabau, Elisabet; Guitart, Miriam; Fuster, Carmen

    2015-01-01

    Most apparent balanced chromosomal inversions are usually clinically asymptomatic; however, infertility, miscarriages, and mental retardation have been reported in inversion carriers. We present a small family with a paracentric inversion 1q42.13q43 detected in routine prenatal diagnosis. Molecular cytogenetic methods defined the size of the inversion as 11.7 Mb and excluded other unbalanced chromosomal alterations in the patients. Our findings suggest that intellectual disability is caused by dysfunction, disruption, or position effects of genes located at or near the breakpoints involved in this inversion. © 2015 S. Karger AG, Basel.

  7. Improved Outcomes for Hispanic Women with Gestational Diabetes Using the Centering Pregnancy© Group Prenatal Care Model.

    Science.gov (United States)

    Schellinger, Megan M; Abernathy, Mary Pell; Amerman, Barbara; May, Carissa; Foxlow, Leslie A; Carter, Amy L; Barbour, Kelli; Luebbehusen, Erin; Ayo, Katherine; Bastawros, Dina; Rose, Rebecca S; Haas, David M

    2017-02-01

    Objective To determine the impact of Centering Pregnancy © -based group prenatal care for Hispanic gravid diabetics on pregnancy outcomes and postpartum follow-up care compared to those receiving traditional prenatal care. Methods A cohort study was performed including 460 women diagnosed with gestational diabetes mellitus (GDM) who received traditional or Centering Pregnancy © prenatal care. The primary outcome measured was completion of postpartum glucose tolerance testing. Secondary outcomes included postpartum visit attendance, birth outcomes, breastfeeding, and initiation of a family planning method. Results 203 women received Centering Pregnancy © group prenatal care and 257 received traditional individual prenatal care. Women receiving Centering Pregnancy © prenatal care were more likely to complete postpartum glucose tolerance testing than those receiving traditional prenatal care, (83.6 vs. 60.7 %, respectively; p prenatal care (30.2 vs. 42.1 %; p = 0.009), and were less likely to undergo inductions of labor (34.5 vs. 46.2 %; p = 0.014). When only Hispanic women were compared, women in the Centering group continued to have higher rates of breastfeeding and completion of postpartum diabetes screening. Conclusion for Practice Hispanic women with GDM who participate in Centering Pregnancy © group prenatal care may have improved outcomes.

  8. Prenatal anxiety effects: A review.

    Science.gov (United States)

    Field, Tiffany

    2017-11-01

    This review is based on literature on prenatal anxiety effects that was found on Pubmed and PsycINFO for the years 2010-2016. Prenatal anxiety is thought to have distinct features, although it has been measured both by specific prenatal anxiety symptoms as well as by standardized anxiety scales. Its prevalence has ranged from 21 to 25% and it has been predicted by a number of pregnancy - related variables such as unintended pregnancy, demographic variables such as low acculturation and income and psychosocial factors including pessimism and partner tension. Prenatal anxiety effects on pregnancy include increased cortisol levels, pro-inflammatory cytokines, obstetric problems and cesarean section. Effects on the neonate include lower gestational age, prematurity, less insulin-like growth factor in cord blood, less exclusive breast-feeding and less self-regulation during the heelstick procedure. Prenatal anxiety effects continue into infancy and childhood both on physiological development and emotional/mental development. Among the physiological effects are lower vagal activity across the first two years, and lower immunity, more illnesses and reduced gray matter in childhood. Prenatal anxiety effects on emotional/mental development include greater negative emotionality and in infants, lower mental development scores and internalizing problems. Anxiety disorders occur during childhood and elevated cortisol and internalizing behaviors occur during adolescence. Interventions for prenatal anxiety are virtually nonexistent, although stroking (massaging) the infant has moderated the pregnancy - specific anxiety effects on internalizing behaviors in the offspring. The limitations of this literature include the homogeneity of samples, the frequent use of anxiety measures that are not specific to pregnancy, and the reliance on self-report. Nonetheless, the literature highlights the negative, long-term effects of prenatal anxiety and the need for screening and early

  9. Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families.

    Science.gov (United States)

    Rosenmann, Ada; Bejarano-Achache, Idit; Eli, Dalia; Maftsir, Genia; Mizrahi-Meissonnier, Liliana; Blumenfeld, Anat

    2009-10-01

    To present our accumulated data on prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli albino families. Albinism consists of variable phenotypes, but only families with predicted severely handicapped albino offspring, who declared their wish to terminate a pregnancy of such a fetus, are eligible for prenatal testing. Prenatal testing is not offered otherwise. Following detailed genetic investigation and counseling, molecular prenatal testing was performed using the combination of mutation screening, direct sequencing, and haplotype analysis. A total of 55 prenatal tests were performed in 37 families; in 26 families the propositus was the child, and in 11, a parent or a close relative. In 32 families tyrosinase (TYR) mutations were diagnosed. In 5 families a P gene mutation was detected. Twelve albino fetuses were diagnosed. Following further genetic counseling, all couples elected to terminate the pregnancy. Three additional pregnancies were terminated for other reasons. Families with increased risk for an albino child with severe visual handicap, seek premarital and prenatal genetic counseling and testing, for the prevention of affected offspring. Our combined methods of molecular genetic testing enable a nationwide approach for prevention of albinism. The same paradigm can be applied to other populations affected with albinism.

  10. [Prenatal diagnosis of 17q12 microdeletion syndrome in fetal renal abnormalities].

    Science.gov (United States)

    Jiang, Y L; Qi, Q W; Zhou, X Y; Geng, F F; Bai, J J; Hao, N; Liu, J T

    2017-10-25

    Objectives: To analyze 3 cases of 17q12 microdeletion syndrome diagnosed prenatally, and to demonstrate clinical phenotype of the syndrome in prenatal setting. Methods: From January 2013 to July 2017, 1 370 women received invasive prenatal diagnosis and chromosome microarray analysis (CMA) in Peking Union Medical College Hospital. Among them, 3 fetuses were diagnosed as 17q12 microdeletion syndrome. All 3 cases were low-risk pregnancies. Abnormal structures in fetal kidney were found in all 3 cases, including 1 case of multiple renal cysts, 2 cases of bilateral hyperechogenic kidneys. These women accepted invasive prenatal diagnosis followed by karyotyping, parental fluorescence in situ hybridization or CMA validation. Results: The second and third trimester ultrasound showed that all 3 fetuses had bilateral renal structural abnormalities, including hyperechogenic kidney, multiple cysts and renal pelvis dilatation. The karyotyping of the 3 fetuses were normal. CMA examination showed that each case had 1.4-1.6 Mb deletion in 17q12 region. Two cases were de novo deletion and 1 case was inherited from the mother who had mild symptoms. The 3 women decided to terminate pregnancies after genetic counseling. Conclusion: 17q12 microdeletion syndrome is a recurrent chromosome microdeletion syndrome, and the unique phenotype in prenatal setting is the abnormal structure of bilateral kidneys. A few cases of 17q12 microdeletion syndrome even inherited normally phenotypical parents, and prenatal genetic counseling of 17q12 microdeletion syndrome is relatively difficult.

  11. A comprehensive cytogenetic classification of 1466 Chinese patients with de novo acute lymphoblastic leukemia.

    Science.gov (United States)

    Li, Xin; Li, Juan; Hu, Yanjie; Xie, Wei; Du, Wen; Liu, Wei; Li, Xiaoqing; Chen, Xiangjun; Li, Hongrui; Wang, Junfeng; Zhang, Lannan; Huang, Shiang

    2012-06-01

    Cytogenetics and molecular cytogenetics of 1466 Chinese patients with de novo acute lymphoblastic leukemia (ALL) were studied. Cytogenetic results were available in 1175 patients. Cross-correlations of 23 subclasses of cytogenetic abnormalities were described. Childhood cases had higher incidences of normal karyotype, t(1;19), +8, 12q-, +21, +22 and high hyperdiploidy with 51-65 chromosomes, and lower incidences of t(9;22) and -5/5q- than adult ones (all pcytogenetic subclasses with immunophenotyping subgroups of ALL were studied. Our study presents the cytogenetic characteristics of a large series of Chinese ALL patients. Copyright © 2011 Elsevier Ltd. All rights reserved.

  12. The Importance of Multidisciplinary Management during Prenatal Care for Cleft Lip and Palate

    Directory of Open Access Journals (Sweden)

    Hyun Ho Han

    2016-03-01

    Full Text Available BackgroundThe prenatal ultrasound detection of cleft lip with or without cleft palate (CL/P and its continuous management in the prenatal, perinatal, and postnatal periods using a multidisciplinary team approach can be beneficial for parents and their infants. In this report, we share our experiences with the prenatal detection of CL/P and the multidisciplinary management of this malformation in our institution's Congenital Disease Center.MethodsThe multidisciplinary team of the Congenital Disease Center for mothers of children with CL/P is composed of obstetricians, plastic and reconstructive surgeons, pediatricians, and psychiatrists. A total of 11 fetuses were diagnosed with CL/P from March 2009 to December 2013, and their mothers were referred to the Congenital Disease Center of our hospital. When CL/P is suspected in the prenatal ultrasound screening examination, the pregnant woman is referred to our center for further evaluation.ResultsThe abortion rate was 28% (3/11. The concordance rate of the sonographic and final diagnoses was 100%. Ten women (91% reported that they were satisfied with the multidisciplinary management in our center.ConclusionsAlthough a child with a birth defect is unlikely to be received well, the women whose fetuses were diagnosed with CL/P on prenatal ultrasound screening and who underwent multidisciplinary team management were more likely to decide to continue their pregnancy.

  13. Prenatal control of nondeletional α-thalassemia: first experience in mainland China.

    Science.gov (United States)

    Li, Jian; Li, Ru; Zhou, Jian-Ying; Xie, Xing-Mei; Liao, Can; Li, Dong-Zhi

    2013-09-01

    To demonstrate the performance of nondeletional α-thalassemia prevention at a mainland Chinese hospital. A prenatal control program for nondeletional hemoglobin H (Hb H) disease was conducted from January 2010 to June 2012. All couples were screened for α-thalassemia trait, and for couples in whom one partner was tested positive for α(0) -thalassemia, the other was subjected to screening for Hb Constant Spring and Hb Quong Sze mutations. Prenatal diagnoses were offered in pregnancies of couples at-risk for nondeletional Hb H disease. Of the 30,152 couples screened, 18 (0.06%) were diagnosed as at risk for nondeletional Hb H disease. There were other 13 at-risk couples who were referred to prenatal diagnosis because they had previously an affected child. Of the 31 cases with prenatal invasive tests, 11 (35.5%) had diagnosis by chorionic villous sampling, and 20 (64.5%) had amniocentesis. Totally, 12 fetuses were diagnosed with nondeletional Hb H disease, and all of the affected pregnancies were terminated. Implementation of a prevention and control program accompanying with a referral system for prenatal diagnosis is technically feasible in southern China, and a number of nondeletional Hb H disease have been prevented during the past 3 years of operation. © 2013 John Wiley & Sons, Ltd.

  14. Cytogenetics and molecular genetics of Wilms' tumor of childhood

    NARCIS (Netherlands)

    Slater, R. M.; Mannens, M. M.

    1992-01-01

    We describe the way in which application of cytogenetic and molecular genetic techniques to the study of Wilms' tumor (WT) of the kidney and the associated congenital disorders, such as sporadic aniridia and the Beckwith-Wiedemann syndrome, has led to identification of two regions on the short arm

  15. Cytogenetic analysis and occupational health in the Czech Republic

    Czech Academy of Sciences Publication Activity Database

    Šrám, Radim; Rössner, P.; Šmerhovský, Zdeněk

    2004-01-01

    Roč. 566, č. 1 (2004), s. 21-48 ISSN 1383-5742 Institutional research plan: CEZ:AV0Z5039906 Keywords : cytogenetic analysis * occupational exposure Subject RIV: DN - Health Impact of the Environment Quality Impact factor: 3.667, year: 2004

  16. Molecular cytogenetic identification of a novel dwarf wheat line with ...

    Indian Academy of Sciences (India)

    2012-01-08

    Jan 8, 2012 ... of a pAs1 hybridization band on 2DL chromosome of 31505-1. Two SSR ... [Chen G, Zheng Q, Bao Y, Liu S, Wang H and Li X 2012 Molecular cytogenetic identification of a novel dwarf wheat line with ..... translocations (Fedak and Han 2005; Li et al. ... growth (Cambridge, UK: Cambridge University Press).

  17. CYTOGENETIC STUDY OF FOUR SPECIES OF LAND SNAILS OF ...

    African Journals Online (AJOL)

    The chromosomal study of the four species of achatinid snails was carried out with the aim of determining their chromosome numbers as part of a preliminary attempt to understand the cytogenetics of land snails of Nigeria. The haploid chromosomes of various species of snails studied were obtained from their ovotestis ...

  18. A molecular cytogenetic analysis of introgression in Alstroemeria

    NARCIS (Netherlands)

    Kamstra, S.A.

    1999-01-01

    This thesis describes the results of a molecular cytogenetic investigation of the process of introgression in Alstroemeria . The aim of this study was to transfer chromosomes or genes from one Alstroemeria species into another. For this, two

  19. Cytogenetic profile of aplastic anaemia in Indian children

    Directory of Open Access Journals (Sweden)

    Vineeta Gupta

    2013-01-01

    Interpretation & conclusions: Five (11.9% patients with acquired aplastic anaemia had chromosomal abnormalities. Trisomy was found to be the commonest abnormality. Cytogenetic abnormalities may be significant in acquired aplastic anaemia although further studies on a large sample are required to confirm the findings.

  20. Nanoscaled biological gated field effect transistors for cytogenetic analysis

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Dimaki, Maria; Andersen, Karsten Brandt

    2014-01-01

    Cytogenetic analysis is the study of chromosome structure and function, and is often used in cancer diagnosis, as many chromosome abnormalities are linked to the onset of cancer. A novel label free detection method for chromosomal translocation analysis using nanoscaled field effect transistors...

  1. Molecular cytogenetic characterization of a new wheat Secale ...

    Indian Academy of Sciences (India)

    A stable, highly fertile wheat Secale africanum substitution line LF24, derived from the F7 generation of a cross between Mianyang11 (MY11) and Triticum durum, S. africanum amphiploid (YF) was identified through molecular cytogenetic analysis. Application of C-banding, in situ hybridization and molecular markers ...

  2. Cytogenetic studies on some Nigerian species of Solanum L ...

    African Journals Online (AJOL)

    Cytogenetic studies to determine the chromosome number, structure and behaviour of some species of Solanum in Nigeria were carried out. Attempt was also made to induce polyploidy in the species. Comparative analysis of the cytological behaviour of the diploid and polyploid cytotypes was made. The studies show that ...

  3. Cytogenetic studies of the blood (M111), part A

    Science.gov (United States)

    Lockhart, L. H.

    1973-01-01

    The cytogenetic study of the crew appears to indicate that Skylab-type environmental conditions have no deleterious effect upon chromosomal material. The findings are, however, less clear-cut than might be desired, due in large measure to confounding of the experimental design by the administration of isotope injections for the purposes of other experiments and to the lack of control subjects.

  4. Cytogenetic studies of 19 meningiomas and their clinical significance. I

    DEFF Research Database (Denmark)

    Poulsgård, L; Rønne, M; Schrøder, H D

    1989-01-01

    Cytogenetic analysis of 19 meningiomas from 10 female and 9 male patients are reported. Chromosomal abnormalities were found in all cases with a stemline karyotype 45, XY, -22 or 45, XX, -22. Three of these had additional sidelines: (a) 44, XX, -1, -4, -6, -8, -22, +19, +del(1) (:p33----q43), +dup...

  5. Cytogenetic and molecular abnormalities in chronic myelomonocytic leukemia

    International Nuclear Information System (INIS)

    Patnaik, M M; Tefferi, A

    2016-01-01

    Chronic myelomonocytic leukemia (CMML) is a clonal stem cell disorder associated with peripheral blood monocytosis and an inherent tendency to transform to acute myeloid leukemia. CMML has overlapping features of myelodysplastic syndromes and myeloproliferative neoplasms. Clonal cytogenetic changes are seen in ~30%, whereas gene mutations are seen in >90% of patients. Common cytogenetic abnormalities include; trisomy 8, -Y, -7/del(7q), trisomy 21 and del(20q), with the Mayo–French risk stratification effectively risk stratifying patients based on cytogenetic abnormalities. Gene mutations frequently involve epigenetic regulators (TET2 ~60%), modulators of chromatin (ASXL1 ~40%), spliceosome components (SRSF2 ~50%), transcription factors (RUNX1 ~15%) and signal pathways (RAS ~30%, CBL ~15%). Of these, thus far, only nonsense and frameshift ASXL1 mutations have been shown to negatively impact overall survival. This has resulted in the development of contemporary, molecularly integrated (inclusive of ASXL1 mutations) CMML prognostic models, including Molecular Mayo Model and the Groupe Français des Myélodysplasies model. Better understanding of the prevalent genetic and epigenetic dysregulation has resulted in emerging targeted treatment options for some patients. The development of an integrated (cytogenetic and molecular) prognostic model along with CMML-specific response assessment criteria are much needed future goals

  6. Cytogenetic studies of 11 meningiomas and their clinical significance. II

    DEFF Research Database (Denmark)

    Poulsgård, L; Schrøder, H D; Rønne, M

    1990-01-01

    Cytogenetic analyses of 11 consecutive cases of meningiomas from 7 female and 4 male patients are reported. Chromosomal abnormalities were found in all cases. Only two of the cases showed cells with normal karyotype in addition to the abnormal stemline. Two of the cases displayed a more aggressive...

  7. Notes on the cytogenetics of some South African Xiphinema species ...

    African Journals Online (AJOL)

    The cytogenetics of several South African species of Xiphinemawere studied and compared with the existing data for this genus from Europe. The process of oogenesis appears to be very similar in all species studied, with little interspecific and intraspecific differences. The ovaries of the South African specimens are larger, ...

  8. Cytogenetic studies of three triazine herbicides. I. In vitro studies

    Science.gov (United States)

    Atrazine, simazine, and cyanazine are widely used pre-emergence and post-emergence triazine herbicides that have made their way into the potable water supply of many agricultural communities. Because of this and the prevalence of contradictory cytogenetic studies in the literatur...

  9. Cytogenetics in medical practice | Nelson | South African Medical ...

    African Journals Online (AJOL)

    A cytogenetics and tissue culture laboratory is an essential component of a medical genetics department. Chromosome analysis provides a definite answer in many cases where clinical diagnosis is in doubt, and supplies information on which counselling may be based. Cultured cells from different body tissues may be the ...

  10. Prenatal control of Hb Bart's hydrops fetalis: a two-year experience at a mainland Chinese hospital.

    Science.gov (United States)

    Liao, Can; Pan, Min; Han, Jin; Yang, Xin; Zhen, Li; Li, Jian; Li, Ru; Li, Dong-Zhi

    2015-03-01

    α-Thalassemia is a common inherited disease in southern China. The severest form is Hb Bart's hydrops fetalis, in which the affected fetuses almost always die in utero or shortly after birth, and the mothers are at high risk for severe morbidity. Therefore, this condition should be controlled, especially prenatally. In this study, we reported on a two-year experience in prenatal control of Hb Bart's hydrops fetalis at a mainland Chinese hospital. Totally, 573 pregnancies at risk for Hb Bart's hydrops fetalis were referred and different prenatal procedures were offered depending on the gestational age at presentation. One hundred fifty-two affected fetuses were diagnosed prenatally; among these, only half presented in early gestation, and were terminated in time. Although our prenatal program has successfully prevented the birth of children with severe thalassemia, it does not show a satisfactory outcome, considering the gestational age when an affected pregnancy is terminated.

  11. Prenatal care in your second trimester

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/patientinstructions/000557.htm Prenatal care in your second trimester To use the sharing ... Gregory KD, Ramos DE, Jauniaux ERM. Preconception and prenatal care. In: Gabbe SG, Niebyl JR, Simpson JL, et ...

  12. Prenatal care in your third trimester

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/patientinstructions/000558.htm Prenatal care in your third trimester To use the sharing ... Gregory KD, Ramos DE, Jauniaux ERM. Preconception and prenatal care. In: Gabbe SG, Niebyl JR, Simpson JL, et ...

  13. Prenatal exposure to anticonvulsants and psychosexual development

    NARCIS (Netherlands)

    Dessens, A. B.; Cohen-Kettenis, P. T.; Mellenbergh, G. J.; vd Poll, N.; Koppe, J. G.; Boer, K.

    1999-01-01

    Animal studies have shown that prenatal exposure to the anticonvulsant drugs phenobarbital and phenytoin alters steroid hormone levels which consequently leads to disturbed sexual differentiation. In this study, possible sequelae of prenatal exposure to these anticonvulsants on gender development in

  14. Prenatal Testing: MedlinePlus Health Topic

    Science.gov (United States)

    ... Dept. of Health and Human Services Office on Women's Health Start Here Prenatal Tests (Nemours Foundation) Also in Spanish Prenatal Tests (March of Dimes Birth Defects Foundation) Also in Spanish ...

  15. Neurodevelopmental Outcomes of Prenatal Stress

    Directory of Open Access Journals (Sweden)

    M. Genco Usta

    2012-03-01

    Full Text Available The influence of prenatal stress on psychopathology has been observed in many animal and human studies. In many studies, stress during prenatal period has been shown to result in negative feedback dysregulation and hyperactivity of hypothalamo-pituitary-adrenocortical axis. Prenatal stres also may cause increased risk of birth complications, startle or distress in response to novel and surprising stimuli during infancy; lower Full Scale IQs, language abilities and attention deficiency in period of 3-5 years; increased risk of attention deficit hyperactivity syndrome, anxiety symptoms, depressive disorder and impulsivity during adolescence. Additionally, timing of prenatal stress is also important and 12-22 weeks of gestation seems to be the most vulnerable period. The results underline the need for early prevention and intervention programs for highly anxious women during pregnancy. Administration of prenatal stress monitoring to public health programs or removing pregnant women who have been exposed to life events such as natural disaster, terror attack to secure areas that provide basic needs may be crucial.

  16. The symbolic dimension of prenatal nutrition care in diabetes Mellitus

    Directory of Open Access Journals (Sweden)

    Raphaela Corrêa Monteiro MACHADO

    Full Text Available ABSTRACT Objective Aimed at analysing the symbolic dimension of prenatal nutritional care in diabetes. Methods Participants were 17 puerperal adults diagnosed with previous or gestational diabetes. Participant observation and semi-structured interviews were conducted to collect data. The data were interpreted according to an adaptation of Bardin’s Thematic Content Analysis. Results The main meaning of diabetes was the need for changing eating habits. Nutritional care based on the Traditional Method or the Carbohydrate Counting Method was understood as an opportunity for dietary re-education. Weight loss was considered desirable by some participants, albeit against the advice of nutritionists. Pregnant women adopted the standard meal plan, rarely used the food substitution list, and reported occasional dietary transgressions, self-allowed in small portions. Foods containing sucrose were perceived as less harmful to health than added sugars. Conclusion Each pregnant woman experienced prenatal nutritional care in diabetes not as a dietary method, but as part of her lifestyle.

  17. Prenatal diagnosis of Caudal Regression Syndrome : a case report

    Directory of Open Access Journals (Sweden)

    Celikaslan Nurgul

    2001-12-01

    Full Text Available Abstract Background Caudal regression is a rare syndrome which has a spectrum of congenital malformations ranging from simple anal atresia to absence of sacral, lumbar and possibly lower thoracic vertebrae, to the most severe form which is known as sirenomelia. Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors. Case presentation We report a case of caudal regression syndrome diagnosed in utero at 22 weeks' of gestation. Prenatal ultrasound examination revealed a sudden interruption of the spine and "frog-like" position of lower limbs. Termination of pregnancy and autopsy findings confirmed the diagnosis. Conclusion Prenatal ultrasonographic diagnosis of caudal regression syndrome is possible at 22 weeks' of gestation by ultrasound examination.

  18. Diagnosing Tic Disorders

    Science.gov (United States)

    ... Submit" /> Information For… Media Policy Makers Diagnosing Tic Disorders Language: English (US) Español (Spanish) Recommend on ... or postviral encephalitis). Persistent (Chronic) Motor or Vocal Tic Disorder To be diagnosed with a persistent tic ...

  19. Prenatal Care: New Hampshire Residents - 1976.

    Science.gov (United States)

    Mires, Maynard H.; Sirc, Charles E.

    Data from 1976 New Hampshire birth certificates were used to examine the correlations between the degree (month of pregnancy that prenatal care began) and intensity (number of prenatal visits) of prenatal care and low infant birth weight, illegitimacy, maternal age, maternal education, and complications of pregnancy. The rate of low birth weight…

  20. Congenital lung malformations: correlation between prenatal and ...

    African Journals Online (AJOL)

    Aim: Congenital lung malformations are a common finding during prenatal ultrasonography (US). Investigations were completed by means of prenatal MRI and postnatal computed tomographic (CT) scan. The purpose of this study was to compare these prenatal findings with postnatal findings and pathological findings after ...

  1. Evaluation of Outcome- Prenatal Diagnosis Indication and Results Suitability in Families Referred to our Laboratory For Prenatal Diagnosis

    Directory of Open Access Journals (Sweden)

    Ayşegül Türkyılmaz

    2007-01-01

    Full Text Available Since our aim is to establish the importance, necessity and concept of prenatal diagnosis in our region and supply routine service at a stage which we admit as a transitional period for application, all of the materials of amniocentesis, cordocentesis and corion villi sample referred to laboratories were evaluated without refusal.When we examined prenatal diagnoses of these specimens, we found Down Risk (according to triple test result in 164 specimens (%34, fetal anomaly risk in 122 (%25, advanced age in 69 (%14 poor-obstetric anamnesis in 27(%5, Down Syndrome- infant history in 20 (%4, family request in 17, and habitual abortus (%3 etc. in specimens. Lymphocyte Culture prepared in duplicate for each specimen and chromosome were obtained from total of ten slides for each specimen. Slides were stained with Giemsa Banding Technic (GTG Banding. Total (10x481 4810 slides were evaluated for diagnosis.There were no false positive and false negative results.

  2. Diagnostic test for prenatal identification of Down's syndrome and mental retardation and gene therapy therefor

    Science.gov (United States)

    Smith, Desmond J.; Rubin, Edward M.

    2000-01-01

    A a diagnostic test useful for prenatal identification of Down syndrome and mental retardation. A method for gene therapy for correction and treatment of Down syndrome. DYRK gene involved in the ability to learn. A method for diagnosing Down's syndrome and mental retardation and an assay therefor. A pharmaceutical composition for treatment of Down's syndrome mental retardation.

  3. Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy

    DEFF Research Database (Denmark)

    Boyd, Patricia Anne; Loane, Maria; Garne, Ester

    2011-01-01

    This study aims to assess prevalence and pregnancy outcome for sex chromosome trisomies (SCTs) diagnosed prenatally or in the first year of life. Data held by the European Surveillance of Congenital Anomalies (EUROCAT) database on SCT cases delivered 2000-2005 from 19 population-based registries ...

  4. Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort.

    Science.gov (United States)

    Malam, Faheem; Hartley, Taila; Gillespie, Meredith K; Armour, Christine M; Bariciak, Erika; Graham, Gail E; Nikkel, Sarah M; Richer, Julie; Sawyer, Sarah L; Boycott, Kym M; Dyment, David A

    2017-05-09

    Genetic disease and congenital anomalies continue to be a leading cause of neonate mortality and morbidity. A genetic diagnosis in the neonatal intensive care unit (NICU) can be a challenge given the associated genetic heterogeneity and early stage of a disease. We set out to evaluate the outcomes of Medical Genetics consultation in the NICU in terms of cytogenetic and molecular diagnostic rates and impact on management. We retrospectively reviewed 132 charts from patients admitted to the NICU who received a Medical Genetics diagnostic evaluation over a 2 year period. Of the 132 patients reviewed, 26% (34/132) received a cytogenetic or molecular diagnosis based on the Medical Genetics diagnostic evaluation; only 10% (13/132) received a diagnosis during their admission. The additional 16% (21 patients) received their diagnosis following NICU discharge, but based on a genetic test initiated during hospital-stay. Mean time from NICU admission to confirmed diagnosis was 24 days. For those who received a genetic diagnosis, the information was considered beneficial for clinical management in all, and a direct change to medical management occurred for 12% (4/32). For those non-diagnosed infants seen in out-patient follow-up clinic, diagnoses were made in 8% (3/37). The diagnoses made post-discharge from the NICU comprised a greater number of Mendelian disorders and represent an opportunity to improve genetic care. The adoption of diagnostic tools, such as exome sequencing, used in parallel with traditional approaches will improve rate of diagnoses and will have a significant impact, in particular when the differential diagnosis is broad. © 2017 Wiley Periodicals, Inc.

  5. [Clinical manifestation and cytogenetic analysis of 607 patients with Turner syndrome].

    Science.gov (United States)

    Zheng, Jiemei; Liu, Zhiying; Xia, Pei; Lai, Yi; Wei, Yangjun; Liu, Yanyan; Chen, Jiurong; Qin, Li; Xie, Liangyu; Wang, He

    2017-02-10

    To explore the correlation between cytogenetic findings and clinical manifestations of Turner syndrome. 607 cases of cytogenetically diagnosed Turner syndrome, including those with a major manifestation of Turner syndrome, were analyzed with conventional G-banding. Correlation between the karyotypes and clinical features were analyzed. Among the 607 cases, there were 154 cases with monosomy X (25.37%). Mosaicism monosomy X was found in 240 patients (39.54%), which included 194 (80.83%) with a low proportion of 45,X (3 ≤ the number of 45, X ≤5, while the normal cells ≥ 30). Structural X chromosome abnormalities were found in 173 patients (28.50%). A supernumerary marker chromosome was found in 40 cases (6.59%). Most patients with typical manifestations of Turner syndrome were under 11 years of age and whose karyotypes were mainly 45,X. The karyotype of patients between 11 and 18 years old was mainly 45,X, 46,X,i(X)(q10) and mos45,X/46,X,i(X)(q10), which all had primary amenorrhea in addition to the typical clinical manifestations. The karyotype of patients over 18 years of age were mainly mosaicism with a low proportion of 45,X, whom all had primary infertility. 53 patients had a history of pregnancy, which included 48 with non-structural abnormalities of X chromosome and 5 with abnormal structure of X chromosome. Generally, the higher proportion of cells with an abnormal karyotype, the more severe were the clinical symptoms and the earlier clinical recognition. Karyotyping analysis can provide guidance for the early diagnosis of Turner syndrome, especially those with a low proportion of 45,X.

  6. Therapy related-chronic myelomonocytic leukemia (CMML): Molecular, cytogenetic, and clinical distinctions from de novo CMML.

    Science.gov (United States)

    Patnaik, Mrinal M; Vallapureddy, Rangit; Yalniz, Fevzi F; Hanson, Curtis A; Ketterling, Rhett P; Lasho, Terra L; Finke, Christy; Al-Kali, Aref; Gangat, Naseema; Tefferi, Ayalew

    2018-01-01

    Therapy related myeloid neoplasms (t-MN) including therapy related myelodysplastic syndromes (t-MDS) and acute myeloid leukemia (t-AML) are associated with aggressive disease biologies and poor outcomes. In this large (n = 497) and informative (inclusive of molecular and cytogenetic information) chronic myelomonocytic leukemia (CMML) patient cohort, we demonstrate key biological insights and an independent prognostic impact for t-CMML. T-CMML was diagnosed in 9% of patients and occurred approximately 7 years after exposure to prior chemotherapy and/or radiation therapy. In comparison to de novo CMML, t-CMML patients had higher LDH levels, higher frequency of karyotypic abnormalities and had higher risk cytogenetic stratification. There were no differences in the distribution of gene mutations and unlike t-MDS/AML, balanced chromosomal translocations, abnormalities of chromosome 11q23 (1%) and Tp53 mutations (<2%) were uncommon. Molecularly integrated CMML prognostic models were not effective in risk stratifying t-CMML patients and responses to hypomethylating agents were dismal with no complete responses. Median overall (OS) and leukemia free survival (LFS) was shorter for t-CMML in comparison to d-CMML (Median OS 10.9 vs 26 months and median LFS 50 vs 127 months) and t-CMML independently and adversely impacted OS (P = .0001 HR 2.1 95% CI 1.4-3.0). This prognostic impact was retained in the context of the Mayo Molecular Model (P = .001, HR 2.4, 95% CI 1.5-3.7) and the GFM prognostic model (P < .0001, HR 2.15, 95% CI 1.5-3.7). In summary, we highlight the unique genetics and independent prognostic impact of t-CMML, warranting its inclusion as a separate entity in the classification schema for both CMML and t-MN. © 2017 Wiley Periodicals, Inc.

  7. Prenatal diagnosis of congenital ranula: Case Report

    Directory of Open Access Journals (Sweden)

    Aytül Çorbacıoğlu Esmer

    2013-12-01

    Full Text Available Congenital ranula is a mucous retention cyst which originates from the base of the oral cavity and is caused by sublingual or submandibular canal atresia or canalization defect. As with the other tumors in the oral cavity it may cause upper airway obstruction and hypoxia immediately after delivery. In the following stages of life, apart from the respiratory problems it may cause speach, chewing and swallowing disorders. The prenatal diagnosis of congenital sublingual ranula is very rare, and it presents as an avascular and anechoic cystic mass displacing the tongue upwards on fetal ultrasonography. Polyhydramnios can develop due to the obstruction and stomach may not be visualized. The differential diagnosis includes lymphatic malformations, epulis, epignatus, tyroglossal canal cyst and hemangioma. In this paper, we present a case of ranula which was diagnosed during prenatal ultrasonographic examination. The detailed fetal ultrasound scan performed at the 31th week of gestation revealed a non-septated anechoic cyst in the oral cavity measuring 20 x 17 x 15 mm. The cyst had well-defined regular borders with no solid component. Doppler ultrasonograhy did not show any vascularization within the cyst. After the delivery at the 38th week of gestation, a sublingual cystic mass with regular borders measuring 1.5 x1.5 cm was detected in the mouth of the neonate. Entubation was not required due to the absence of respiratory distress. In order to prevent difficutlies in feeding, the cystic mass was aspirated just after the delivery. A diagnosis of sublingual ranula was made based on the localization and the mucoid consistency of the cyst.

  8. Cytogenetic basis of acute myeloid leukemia.

    Science.gov (United States)

    Ford, J H; Pittman, S M; Singh, S; Wass, E J; Vincent, P C; Gunz, F W

    1975-10-01

    The chromosomes of 12 adult patients with acute leukemia were analyzed by conventional means and by Giemsa and centromeric banding techniques. Acute myeloblastic leukemia was diagnosed in 7, acute myelomonocytic leukemia in 2, and acute undifferentiated leukemia in 3. Bone marrow was aspirated from patients when in relapse or remission, and both euploid and aneuploid cells were examined. All patients showed trisomy no. 9 and many showed additional numerical or structural changes in some or all their cells. These changes included monosomy no. 21 and/or monosomy no. 8. The proportion of trisomy no. 9 cells was 30-50% in patients in full remission and up to 100% in patients in relapse; thus trisomy no. 9 might be an important marker of leukemic cells. A mechanism was proposed to explain the induction and selection of the trisomy no. 9 karotype.

  9. An in vivo cytogenetic analysis of human oral squamous cell carcinoma

    Directory of Open Access Journals (Sweden)

    Abhimanyu Mohanta

    2015-01-01

    Full Text Available Background: Oral cancer ranks in the top three of all cancers in India, which accounts for over 30% of all cancers reported in the country. The micronucleus test (MNT is one of the most widely applied short term tests used in genetic toxicology to evaluate the mutagenicity and carcinogenicity. Aims: The present study aims at an in vivo cytogenetic analysis of human oral squamous cell carcinoma and to assess the applicability of MNT in diagnosing early detection of oral carcinoma. Materials and Methods: Exfoliated scrape smears were collected from the clinically diagnosed 136 patients suffering from oral precancerous and cancerous lesions. The wet fixed smears were stained by adopting Papanicolaou's staining protocol and counter-stained with Giemsa's solution. Results: The frequency of micronucleated cells has been observed to be in increasing order with the increase of the age-groups and from control to precancerous to cancerous cases significantly in both sexes. Conclusion: Micronucleus formation in the oral mucosa could be a biomarker of genetic damage and also a potential onco-indicator in the long run of oral carcinogenesis. Therefore, MNT can be applied for the early detection of oral carcinoma in the human being.

  10. 110 Subfascial lipomatous tumors. MR and CT findings versus histopathological diagnosis and cytogenetic analysis

    International Nuclear Information System (INIS)

    Einarsdottir, H.; Soederlund, V.; Larsson, O.; Mandahl, N.; Bauer, H.C.F.

    1999-01-01

    Purpose: To evaluate whether liposarcoma, atypical lipomatous tumors and lipoma can be differentiated radiologically. Material and Methods: We have retrospectively analyzed CT and/or MR images of 110 subfascial lipomatous lesions. The amount of fat within the tumors was visually graded from the images as: none, 1-75%, 75-95% or 95-100%. The structure of non-fatty tumor components was compared. The images were compared to histopathology and in 37 cases to cytogenetic findings. Results: Only 4 of 20 liposarcomas contained fat. All 4 lesions, histopathologically diagnosed as atypical lipomatous tumors, contained fat but less than 75% of tumor volume. All lesions with more fat than 75% of tumor volume were histologically diagnosed as lipomas. However, one-third of the karyotyped lipomas had ring chromosomes which are considered typical for atypical lipomatous tumors. Conclusion: When a tumor is composed more or less solely of fat, the diagnosis of a lipoma or atypical lipomatous tumor with a phenotype simulating a lipoma can be assumed. When the fat content is less than 75% of the tumor volume or non-fatty nodules are found, biopsies from different tumor components have to be performed to exclude malignancy. When no fat is found, imaging does not help in differentiating lipoma or liposarcoma from other soft tissue tumors. (orig.)

  11. Cytogenetic effects of in vitro irradiation of human spermatozoa

    International Nuclear Information System (INIS)

    Miro, R.; Genesca, A.; Alvarez, R.; Tusell, L.; Ponsa, I.

    1997-01-01

    The effects of human mutagens, clastogens and aneugens have been studied almost exclusively in somatic tissues. However, currently there is a considerable discussion about the potential of ionizing radiation to induce heritable germ cell mutations. While the various viewpoints remain controversial. One of the aims of germ cell cytogenetic studies must be to improve the ability to identify and estimate the actual genetic risk in humans. One way to assess the risk of transmission of genetic anomalies by men occupationally or accidentally exposed to ionizing radiation is to determine whether there is a dose-related genetic damage in human spermatozoa. Cytogenetic analysis of human spermatozoa is possible after interspecific in vitro fertilization between zona pellucida-free hamster oocytes and human spermatozoa. Using this assay system we have analyzed the radiation induction of structural chromosome abnormalities in sperm derived complements at the first embryo cleavage, as well as the radiation induction of micronuclei and aneuploidy in two-cell hybrid embryos. (author)

  12. Comparative cytogenetics of Auchenorrhyncha (Hemiptera, Homoptera): a review

    Science.gov (United States)

    Kuznetsova, Valentina; Aguin-Pombo, Dora

    2015-01-01

    Abstract A comprehensive review of cytogenetic features is provided for the large hemipteran suborder Auchenorrhyncha, which currently contains approximately 42,000 valid species. This review is based on the analysis of 819 species, 483 genera, and 31 families representing all presently recognized Auchenorrhyncha superfamilies, e.i. Cicadoidea (cicadas), Cercopoidea (spittle bugs), Membracoidea (leafhoppers and treehoppers), Myerslopioidea (ground-dwelling leafhoppers), and Fulgoroidea (planthoppers). History and present status of chromosome studies are described, as well as the structure of chromosomes, chromosome counts, trends and mechanisms of evolution of karyotypes and sex determining systems, their variation at different taxonomic levels and most characteristic (modal) states, occurrence of parthenogenesis, polyploidy, B-chromosomes and chromosome rearrangements, and methods used for cytogenetic analysis of Auchenorrhyncha. PMID:26807037

  13. Cytogenetic effects in adolescents from different areas of Kemerovskaya oblast'

    International Nuclear Information System (INIS)

    Druzhinin, V.G.; Lifanov, A.Y.; Golovina, T.A.

    1995-01-01

    Considerable variations in the frequency of spontaneous chromosomal aberrations were revealed during a cytogenetic study of two groups of adolescents from ecologically different areas of Kemerovskaya oblast'. In a sample of adolescents living in an industrial center (the Kemerovo city), this parameter (1.4±0.37%) did not exceed the population average value, whereas adolescents of the same age from a mountain region with sparse industry (the town of Tashtagol) exhibited, on average, a frequency of 5.87±0.62%. An increased proportion of chromosomal-type aberrations in the qualitative spectrum of cytogenetic damage, which was observed for the group of adolescents from Tashtagol, suggests that this population was exposed to radiation. 13 refS., 1 fig., 3 tabs

  14. Radiation-induced malignant tumours: a specific cytogenetic profile?

    International Nuclear Information System (INIS)

    Chauveinc, L.; Gaboriaux, G.; Dutrillaux, A. M.; Dutrillaux, B.; Chauveinc, L.; Ricoul, M.; Sabatier, L.; Dutrillaux, B.

    1997-01-01

    To date, there is no criterion enabling to determine the spontaneous or radio-induced origin of malignant tumour occurring in a previously irradiated patient. Biological studies are rare. The cytogenetic data which could be found in the literature for eleven radio-induced tumours suggest that aneuploidies and polyclonality are frequent events. We studied, by R-Banding cytogenetic technique, five patients with short-term cultures (3 cases), short and long-term cultures (1 case) and xeno-grafting on nude pattern a high rate of balanced translocations, numerous random break points and a polyclonal evolution (10 clones). All other tumours, including the xeno-grafting sarcoma, had a monoclonal profile with complex karyotypes, hypo-diploid formulas and many deletions. These results show that the mechanism of radiation-induced tumours frequently involves chromosomes losses and deletions. The most likely explanation is that these alterations unmask radiation induced recessive mutations of tumour suppressor genes. (authors)

  15. Cytogenetic biodosimetry: what it is and how we do it.

    Science.gov (United States)

    Wong, K F; Siu, Lisa L P; Ainsbury, E; Moquet, J

    2013-04-01

    Dicentric assay is the international gold standard for cytogenetic biodosimetry after radiation exposure, despite being very labour-intensive, time-consuming, and highly expertise-dependent. It involves the identification of centromeres and structure of solid-stained chromosomes and the enumeration of dicentric chromosomes in a large number of first-division metaphases of cultured T lymphocytes. The dicentric yield is used to estimate the radiation exposure dosage according to a statistically derived and predetermined dose-response curve. It can be used for population triage after large-scale accidental over-exposure to ionising radiation or with a view to making clinical decisions for individual patients receiving substantial radiation. In this report, we describe our experience in the establishment of a cytogenetic biodosimetry laboratory in Queen Elizabeth Hospital, Hong Kong. This was part of the contingency plan for emergency measures against radiation accidents at nuclear power stations.

  16. Clinical course in infants diagnosed with transient tachypnea of newborn: A clinical trial assessing the role of conservative versus conventional management

    Directory of Open Access Journals (Sweden)

    M. Dehdashtian

    2018-02-01

    Conclusion: Newborns diagnosed with TTN without prenatal risk factors and a negative C reactive protein test do not need to be administered antibiotics and hospitalized until confirmatory blood culture results are obtained.

  17. Prenatal meditation influences infant behaviors.

    Science.gov (United States)

    Chan, Ka Po

    2014-11-01

    Meditation is important in facilitating health. Pregnancy health has been shown to have significant consequences for infant behaviors. In view of limited studies on meditation and infant temperament, this study aims to explore the effects of prenatal meditation on these aspects. The conceptual framework was based on the postulation of positive relationships between prenatal meditation and infant health. A randomized control quantitative study was carried out at Obstetric Unit, Queen Elizabeth Hospital in Hong Kong. 64 pregnant Chinese women were recruited for intervention and 59 were for control. Outcome measures were cord blood cortisol, infant salivary cortisol, and Carey Infant Temperament Questionnaire. Cord blood cortisol level of babies was higher in the intervention group (pmeditation can influence fetal health. Carey Infant Temperament Questionnaire showed that the infants of intervention group have better temperament (pmeditation in relation to child health. Present study concludes the positive effects of prenatal meditation on infant behaviors and recommends that pregnancy care providers should provide prenatal meditation to pregnant women. Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.

  18. What Happens during Prenatal Visits?

    Science.gov (United States)

    ... smoke, drink, or take drugs, and whether you exercise regularly. Ask about your stress level. Perform prenatal blood tests to do the ... increased risk of health problems during pregnancy? Will stress during pregnancy affect my ... minerals linked to problem with ovulation Release: Elevated blood pressure before pregnancy may increase chance ...

  19. Cytogenetic Analysis of 65 Women with Premature Ovarian Insufficiency

    OpenAIRE

    Seda Ates

    2016-01-01

    Aim: Premature ovarian insufficiency (POI) is characterized as amenorrhea for more than 6 months, occurring before the age of 40, with an increased follicle-stimulating hormone and low estrogen concentrations. The aim of our study is to determine the types and distribution of cytogenetic abnormalities among women with POI. Material and Method: The study is based on the retrospective karyotype analysis of 65 women with idiopathic POI referred to the Medical Genetics Department at the Bezmialem...

  20. Meiosis in hematological malignancies. In situ cytogenetic morphology

    OpenAIRE

    Logothetou-Rella, H.

    1996-01-01

    This is the first study on the in situ cytogenetic morphology and analysis of malignant bone marrow cells, growing attached on a culture vessel surface. It was documented that bone marrow cells, in different types of hematological malignancies, divide by meiosis giving rise to a non-repetitive aneuploidy. Male and female gametes are formed by meiosis and fertilization occurs in a life cycle of: Fertilization Meiosis Gametes - Embryo - Gametes Immature a...

  1. Cytogenetic variability in pinus sylvestris L. populations experiencing anthropogenic influence

    International Nuclear Information System (INIS)

    Oudalova, A.; Geras'kin, S.; Vasiliev, D.; Dikarev, V.

    2004-01-01

    Techno-genic pollution has become one of the most significant ecological factors determining biosphere existence and development. An analysis of genetic consequences of the radiation accidents in the South Urals and Chernobyl has shown that mutation and recombination processes are considerably accelerated in plant and animal's populations experiencing techno-genic influence. This implies that there are complicated adaptation processes leading to changes in genetic structure of populations and increasing genetic load. Pinus sylvestris L. populations growing at the territory of the 'radon' Leningrad regional radioactive waste reprocessing enterprise and Sosnovy Bor town were monitored 6 years (1997-2002) by a set of cyto-genetical and morphological tests. Cytogenetic damage levels within intercalary meristem of needle as well as in root meristem of seedlings were found to significantly exceed corresponding controls. A higher radioresistance of the Scots pine seeds analyzed was demonstrated with an acute γ-radiation that also revealed a selection process directed at an enhancement of repair efficiency and resulting in a shift of mean values of radioresistance in populations towards higher values. An enlargement of variance of studied cytogenetic parameters was found in the populations experiencing techno-genic influence. This indicates, with an account of phenomenon of the enhanced radioresistance, that there are processes of cyto-genetical adaptation in the investigated regions. An analysis of the structure of ecological-genetical variability was carried out with the purpose of separating two components in the inter-population variability - the first is engaged to the genetically determined variability of biological characteristics intrinsic for this species, and the second is responsible for the variability originating from anthropogenic contamination of the natural habitat. Changes of these two types of variability were studied in dependence on time and techno

  2. Plant centromeric retrotransposons: a structural and cytogenetic perspective

    Czech Academy of Sciences Publication Activity Database

    Neumann, Pavel; Navrátilová, Alice; Koblížková, Andrea; Kejnovský, Eduard; Hřibová, Eva; Hobza, Roman; Widmer, A.; Doležel, Jaroslav; Macas, Jiří

    2011-01-01

    Roč. 2, č. 4 (2011), s. 1-16 ISSN 1759-8753 R&D Projects: GA AV ČR KJB500960802; GA MŠk(CZ) LC06004; GA ČR GA522/09/0083 Institutional research plan: CEZ:AV0Z50510513; CEZ:AV0Z50040507; CEZ:AV0Z50040702; CEZ:AV0Z50380511 Keywords : plant chromosomes * retrotransposons * cytogenetic perspective Subject RIV: EB - Genetics ; Molecular Biology

  3. Study on the cytogenetic activity of freshly irradiated potatoes

    International Nuclear Information System (INIS)

    Zajtsev, A.N.; Osipova, I.N.

    1978-01-01

    Cytogenetic activity of potatoes, subjected to gamma irradiation in the dose of 10 Krad, feeding the animals in a day after irradiation, has been investigated. The frequency of chromosomal aberrations in bone marrow cells of mice, who obtained newly irradiated raw or baked potatoes, has no substantial difference from the analogous mutageneity index of mice from the control group. The data obtained are of practical importance when considering the problem of using gamma-irradiated potatoes in the people nourishment

  4. Cytogenetic variability in pinus sylvestris L. populations experiencing anthropogenic influence

    Energy Technology Data Exchange (ETDEWEB)

    Oudalova, A.; Geras' kin, S.; Vasiliev, D.; Dikarev, V. [Russian Institute of Agricultural Radiology and Agroecology, Obninsk (Russian Federation)

    2004-07-01

    Techno-genic pollution has become one of the most significant ecological factors determining biosphere existence and development. An analysis of genetic consequences of the radiation accidents in the South Urals and Chernobyl has shown that mutation and recombination processes are considerably accelerated in plant and animal's populations experiencing techno-genic influence. This implies that there are complicated adaptation processes leading to changes in genetic structure of populations and increasing genetic load. Pinus sylvestris L. populations growing at the territory of the 'radon' Leningrad regional radioactive waste reprocessing enterprise and Sosnovy Bor town were monitored 6 years (1997-2002) by a set of cyto-genetical and morphological tests. Cytogenetic damage levels within intercalary meristem of needle as well as in root meristem of seedlings were found to significantly exceed corresponding controls. A higher radioresistance of the Scots pine seeds analyzed was demonstrated with an acute {gamma}-radiation that also revealed a selection process directed at an enhancement of repair efficiency and resulting in a shift of mean values of radioresistance in populations towards higher values. An enlargement of variance of studied cytogenetic parameters was found in the populations experiencing techno-genic influence. This indicates, with an account of phenomenon of the enhanced radioresistance, that there are processes of cyto-genetical adaptation in the investigated regions. An analysis of the structure of ecological-genetical variability was carried out with the purpose of separating two components in the inter-population variability - the first is engaged to the genetically determined variability of biological characteristics intrinsic for this species, and the second is responsible for the variability originating from anthropogenic contamination of the natural habitat. Changes of these two types of variability were studied in dependence on

  5. Cytogenetic analysis in 61 couples with spontaneous abortions

    Institute of Scientific and Technical Information of China (English)

    江静; 傅曼芬; 王德芬

    2001-01-01

    Objective To examine the relationship between spontaneous abortion and chromosomal abnormalities. Methods Couples who had one or more consecutive spontaneous abortions and had normal genitals were enrolled for cytogenetic karyotype analysis. Results In the 61 couples, the detected incidence was 11.5%, with five Robertsonian translocations, one reciprocal translocation, and one pericentric inversion of chromosome 7. Conclusion Chromosomal abnormalities may play an important role in fetal wastage.

  6. In vivo synergistic cytogenetic effects of aminophylline on lymphocyte cultures from patients with lung cancer undergoing chemotherapy

    Energy Technology Data Exchange (ETDEWEB)

    Mylonaki, Effie; Manika, Katerina [Pulmonary Department, “G.Papanikolaou” General Hospital, Aristotle University of Thessaloniki (Greece); Zarogoulidis, Paul, E-mail: pzarog@hotmail.com [Pulmonary Department, “G.Papanikolaou” General Hospital, Aristotle University of Thessaloniki (Greece); Domvri, Kalliopi; Voutsas, Vasilis; Zarogoulidis, Kostas [Pulmonary Department, “G.Papanikolaou” General Hospital, Aristotle University of Thessaloniki (Greece); Mourelatos, Dionysios [Biology and Genetics, Medical School, Aristotle University of Thessaloniki (Greece)

    2012-12-15

    Highlights: ► SCEs in vivo, a possible predictor of tumor chemoresponse. ► In vivo exposure to combined treatment, applying the SCE assay. ► Aminophylline enhances DNA instability induced by chemotherapy in vivo. ► In vivo synergistic effect of Aminophylline with the chemotherapeutic agents. - Abstract: Background: The anti-cancer and cytogenetic effects of aminophylline (AM) have been demonstrated in several clinical trials. The aim of the present study was to investigate the in vivo cytogenetic effects of AM in newly diagnosed patients with small cell (SCLC) and non-small cell lung cancer (NSCLC), receiving chemotherapy for the first time. Methods: Sister chromatid exchanges (SCEs) and proliferation rate index (PRI) were evaluated in peripheral blood lymphocyte cultures from six patients with SCLC and six patients with NSCLC after the in vitro addition of AM and after the in vivo administration of AM in patients receiving chemotherapy. Results: The in vitro addition of AM significantly increased SCEs only in SCLC patients (p < 0.001). The in vivo administration of AM after chemotherapy increased SCEs in both cancer types (SCLC: p < 0.001, NSCLC: p = 0.003) and this increase was synergistic, the rates of SCEs in the presence of AM were higher than the expected SCE values if the increases above background for chemotherapy and AM were independent and additive (SCLC: p < 0.001, NSCLC: p = 0.008). Although in both groups of patients cell division delays were observed after the combined chemotherapy plus in vivo AM treatment, the correlation between the magnitude of the SCE response and the PRI depression was not statistically significant (p > 0.05). Conclusions: These observations suggest that AM enhances the results of concurrently administered chemotherapy by synergistically increasing its cytogenetic effects in patients with lung cancer.

  7. An overview of cytogenetics of the tribe Meliponini (Hymenoptera: Apidae).

    Science.gov (United States)

    Tavares, Mara Garcia; Lopes, Denilce Meneses; Campos, L A O

    2017-06-01

    The present study provides a comprehensive review of cytogenetic data on Meliponini and their chromosomal evolution. The compiled data show that only 104 species of stingless bees, representing 32 of the 54 living genera have been studied cytogenetically and that among these species, it is possible to recognize three main groups with n = 9, 15 and 17, respectively. The first group comprises the species of the genus Melipona, whereas karyotypes with n = 15 and n = 17 have been detected in species from different genera. Karyotypes with n = 17 are the most common among the Meliponini studied to date. Cytogenetic information on Meliponini also shows that although chromosome number, in general, is conserved among species of a certain genus, other aspects, such as chromosome morphology, quantity, distribution and composition of heterochromatin, may vary between them. This reinforces the fact that the variations observed in the karyotypes of different Meliponini groups cannot be explained by a single theory or a single type of structural change. In addition, we present a discussion about how these karyotype variations are related to the phylogenetic relationships among the different genera of this tribe.

  8. Cytogenetic examination of cosmonauts for space radiation exposure estimation

    Science.gov (United States)

    Snigiryova, G. P.; Novitskaya, N. N.; Fedorenko, B. S.

    2012-08-01

    PurposeTo evaluate radiation induced chromosome aberration frequency in peripheral blood lymphocytes of cosmonauts who participated in flights on Mir Orbital Station and ISS (International Space Station). Materials and methodsCytogenetic examination which has been performed in the period 1992-2008 included the analysis of chromosome aberrations using conventional Giemsa staining method in 202 blood samples from 48 cosmonauts who participated in flights on Mir Orbital Station and ISS. ResultsSpace flights led to an increase of chromosome aberration frequency. Frequency of dicentrics plus centric rings (Dic+Rc) depend on the space flight duration and accumulated dose value. After the change of space stations (from Mir Orbital Station to ISS) the radiation load of cosmonauts based on data of cytogenetic examination decreased. Extravehicular activity also adds to chromosome aberration frequency in cosmonauts' blood lymphocytes. Average doses after the first flight, estimated by the frequency of Dic+Rc, were 227 and 113 mGy Eq for long-term flights (LTF) and 107 and 53 mGy Eq for short-term flights (STF). ConclusionCytogenetic examination of cosmonauts can be applied to assess equivalent doses.

  9. Long Term Storage of cytogenetic changes in liquidators of Chernobyl

    International Nuclear Information System (INIS)

    Karpov, V. B.

    2004-01-01

    At present chromosome aberration analysis in lymphocytes as well as micronucleus assay are most reliable methods of bio indication of radiation effects. The problem of persistent of cytogenetic changes during the long term after exposure is very important. The cytogenetic studies of liquidators residents of St. Petersburg and region revealed that the average chromosome aberration rate 4-5 years after the accident constitutes 4.94±0.38, number of aberrant cells was 4.82±0.36, dicentrics -0.23±0.10 per 100 cells, micronucleus number -46.1±2.1 per 100 cells that is significantly higher than in control group. dispersion analysis confirms the reported level of external exposure effects on chromosome aberration rate (?=0.04) in this group of liquidators. In 73 persons from the group of high risk participants of nuclear tests, nuclear submarine personnel 8-45 years after average number of chromosome aberrations was 6.5±0.32; dicentrics - 0.64±0.10, centric rings- 0.04±0.02 per 100 cells, for micronuclei -51.4±2.82 per thousand cells, that is significantly higher than in control group (p<0.01). In 45.2% cases the aberration markers (disentrics and centric rings) were found. The late cytogenetic effects were observed after decades and possibility to use these indicators for long term diagnosis is now under consideration. (Author)

  10. Anti-leukemic therapies induce cytogenetic changes of human bone marrow-derived mesenchymal stem cells.

    Science.gov (United States)

    Yeh, Su-Peng; Lo, Wen-Jyi; Lin, Chiao-Lin; Liao, Yu-Min; Lin, Chen-Yuan; Bai, Li-Yuan; Liang, Ji-An; Chiu, Chang-Fang

    2012-02-01

    Both bone marrow hematopoietic cells (BM-HCs) and mesenchymal stem cells (BM-MSCs) may have cytogenetic aberrations in leukemic patients, and anti-leukemic therapy may induce cytogenetic remission of BM-HCs. The impact of anti-leukemic therapy on BM-MSCs remains unknown. Cytogenetic studies of BM-MSCs from 15 leukemic patients with documented cytogenetic abnormalities of BM-HCs were investigated. To see the influence of anti-leukemic therapy on BM-MSCs, cytogenetic studies were carried out in seven of them after the completion of anti-leukemic therapy, including anthracycline/Ara-C-based chemotherapy in two patients, high-dose busulfan/cyclophosphamide-based allogeneic transplantation in two patients, and total body irradiation (TBI)-based allogeneic transplantation in three patients. To simulate the effect of TBI in vitro, three BM-MSCs from one leukemic patient and two normal adults were irradiated using the same dosage and dosing schedule of TBI and cytogenetics were re-examined after irradiation. At the diagnosis of leukemia, two BM-MSCs had cytogenetic aberration, which were completely different to their BM-HCs counterpart. After the completion of anti-leukemic therapy, cytogenetic aberration was no longer detectable in one patient. Unexpectedly, BM-MSCs from three patients receiving TBI-based allogeneic transplantation acquired new, clonal cytogenetic abnormalities after transplantation. Similarly, complex cytogenetic abnormalities were found in all the three BM-MSCs exposed to in vitro irradiation. In conclusion, anti-leukemic treatments induce not only "cytogenetic remission" but also new cytogenetic abnormalities of BM-MSCs. TBI especially exerts detrimental effect on the chromosomal integrity of BM-MSCs and highlights the equal importance of investigating long-term adverse effect of anti-leukemic therapy on BM-MSCs as opposed to beneficial effect on BM-HCs.

  11. Application of Microarray-Based Comparative Genomic Hybridization in Prenatal and Postnatal Settings: Three Case Reports

    Directory of Open Access Journals (Sweden)

    Jing Liu

    2011-01-01

    Full Text Available Microarray-based comparative genomic hybridization (array CGH is a newly emerged molecular cytogenetic technique for rapid evaluation of the entire genome with sub-megabase resolution. It allows for the comprehensive investigation of thousands and millions of genomic loci at once and therefore enables the efficient detection of DNA copy number variations (a.k.a, cryptic genomic imbalances. The development and the clinical application of array CGH have revolutionized the diagnostic process in patients and has provided a clue to many unidentified or unexplained diseases which are suspected to have a genetic cause. In this paper, we present three clinical cases in both prenatal and postnatal settings. Among all, array CGH played a major discovery role to reveal the cryptic and/or complex nature of chromosome arrangements. By identifying the genetic causes responsible for the clinical observation in patients, array CGH has provided accurate diagnosis and appropriate clinical management in a timely and efficient manner.

  12. Variations in management of mild prenatal hydronephrosis among maternal-fetal medicine obstetricians, and pediatric urologists and radiologists.

    Science.gov (United States)

    Zanetta, Vitor C; Rosman, Brian M; Bromley, Bryan; Shipp, Thomas D; Chow, Jeanne S; Campbell, Jeffrey B; Herndon, C D Anthony; Passerotti, Carlo C; Cendron, Marc; Retik, Alan B; Nguyen, Hiep T

    2012-11-01

    There are no current guidelines for diagnosing and managing mild prenatal hydronephrosis. Variations in physician approach make it difficult to analyze outcomes and establish optimal management. We determined the variability of diagnostic approach and management regarding prenatal hydronephrosis among maternal-fetal medicine obstetricians, pediatric urologists and pediatric radiologists. Online surveys were sent to mailing lists for national societies for each specialty. Participants were surveyed regarding criteria for diagnosing mild prenatal hydronephrosis and recommendations for postnatal management, including use of antibiotic prophylaxis, followup scheduling and type of followup imaging. A total of 308 maternal-fetal medicine obstetricians, 126 pediatric urologists and 112 pediatric radiologists responded. Pediatric urologists and radiologists were divided between Society for Fetal Urology criteria and use of anteroposterior pelvic diameter for diagnosis, while maternal-fetal medicine obstetricians preferred using the latter. For postnatal evaluation radiologists preferred using personal criteria, while urologists preferred using anteroposterior pelvic diameter or Society for Fetal Urology grading system. There was wide variation in the use of antibiotic prophylaxis among pediatric urologists. Regarding the use of voiding cystourethrography/radionuclide cystography in patients with prenatal hydronephrosis, neither urologists nor radiologists were consistent in their recommendations. Finally, there was no agreement on length of followup for mild prenatal hydronephrosis. We observed a lack of uniformity regarding grading criteria in diagnosing hydronephrosis prenatally and postnatally among maternal-fetal medicine obstetricians, pediatric urologists and pediatric radiologists. There was also a lack of agreement on the management of mild intermittent prenatal hydronephrosis, resulting in these cases being managed inconsistently. A unified set of guidelines for

  13. Hidronefrosis prenatal en doble sistema excretor Prenatal hydronephrosis in double excretory system

    Directory of Open Access Journals (Sweden)

    Sandalio Durán Álvarez

    2007-12-01

    hydronephrosis were studied. The maternofetal ultrasound showed a double excretory system. To this end, all the newborns and infants with prenatally detected hydronephrosis and double excretory system diagnosed before or after birth were followed up by evolutive renal ultrasonography, micturition urethrocystography, static or dynamic scintigraphy and, in some cases, by excretory urogram. Double excretory system was found in 7 of the 182 patients (3.8 % with abnormalities of the urinary tract diagnosed before birth. Diagnosis was prenatal in just one of the fetuses (31 weeks of pregnancy. Hydronephrotic dilatation was mild in two fetuses and severe in five. Hydronephrosis had different causes. Upper polar nephrectomy was performed in those cases of ureteral ectopy and obstructed upper ureter, reimplantation in one ureterocele, whereas in another it was confirmed the spontaneous rupture by endoscopy. The rest of the patients were symptomatically treated. The hydronephrosis detected before birth by maternofetal ultrasonography may be associated with a double excretory system. Hydronephrotic dilatation associated with a double excretory system may have different causes, and it is necessary to study carefully and systematically these children and to treat them adequately, since each of them may need a different conduct.

  14. Prenatal color Doppler ultrasonographic diagnosis of fetal tetralogy of Fallot

    International Nuclear Information System (INIS)

    Tan Buqiao

    2009-01-01

    Objective: To investigate the sonographic findings of tetralogy of Fallot in fetuses. Methods: The data of color Doppler ultrasonography and follow-up results of 5 fetal tetralogy of Fallot were analyzed retrospectively, and their abnormal ultrasound imaging characteristic were summarized. Results: Two cases were proved tetralogy of Fallot by autopsy, and three cases were confirmed to be tetralogy of Fallot by echocardiography after birth. The image features were the main aorta situated above the ventricular septal defect, pulmonary stenosis, no obvious thickening of the right wall. Conclusion: Fetal tetralogy of Fallot have characteristic ultrasound images, prenatal color Doppler ultrasonographic can diagnoses fetal tetralogy of Fallot correctly and has important clinical value. (authors)

  15. [Prenatal diagnosis of sirenomelia].

    Science.gov (United States)

    Ladure, H; D'hervé, D; Loget, P; Poulain, P

    2006-04-01

    Sirenomelia sequence associates a fusion of inferior legs with renal anomalies until bilateral agenesis. It is a rare and lethal polymalformation. The purpose of the ultrasonographic study is to identify the sirenomelia as early as possible during pregnancy and to differentiate it from caudal regression syndrome. A case of sirenomelia diagnosed early is reported together with a review of the literature. The ultrasonographic diagnosis, associated defects, the interest of color Doppler study of abdominal vasculature are discussed. Antenatal ultrasonographic diagnosis should be obtained as early as possible, before 20th gestational week at the latest. Color Doppler is helpful to confirm the diagnosis in case of bilateral renal agenesis. The main differences between sirenomelia and caudal regression syndrome (which requires a very different genetic counselling) are summarized in a table.

  16. [Performance of prenatal diagnosis and postnatal development of congenital lung malformations].

    Science.gov (United States)

    Desseauve, D; Dugué-Marechaud, M; Maurin, S; Gatibelza, M-È; Vequeau-Goua, V; Mergy-Laurent, M; Levard, G; Pierre, F

    2015-04-01

    For many diseases, the comparison of prenatal diagnosis with a histopathological reality is not always possible. Fetal lung pathology, with its high rate of surgery in postnatal, allows this assessment. This study proposes an approach to the reliability of prenatal diagnosis and analysis of the postnatal development of all children in care for congenital pulmonary malformation (CPM). This is a retrospective study of all cases of CPM diagnosed in Poitiers University Hospital from 1995 to 2011. Cases diagnosed prenatally were identified and the diagnostic accuracy was studied by histology when cases had surgery. The postnatal development of prenatally diagnosed cases is described and compared to children who did not receive prenatal diagnosis. Among the 45 cases of CPM supported at the Poitiers University Hospital, 30 had received prenatal diagnosis of isolated CPM. The diagnostic concordance between antenatal ultrasound and the final diagnosis is κ=0.67 (CI95% [0.38 to 0.94]). The sensitivity of ultrasound was 90% (CI95% [55-99.7]) in our series for the diagnosis of CAMP (cystic adenomatoid malformation pulmonary). We found a sonographic disappearance of lesions in 4 children, 1 child in regression, stable lesions in 21 cases. Four children showed an increase in volume of the malformation, with signs of poor tolerance in 3 cases. After birth, children who received a prenatal diagnosis were no more symptomatic than those whose diagnosis was made postnatal: 21 (70%) versus 11 (73%; P=1) respectively. Similarly, they often received prophylactic surgery: 18 (60%) versus 2 (13%) respectively (P<0.01) and less often suffered post-surgery complication: 3 (10%) versus 10 (67%) respectively (P<0.01). The number of children monitored was not significantly different in the two groups. Prenatal diagnosis allows for the precise nature of the lesion in 90% of cases in 2013 and had no impact on symptomatology at birth. When prenatal diagnosis is possible, preventive

  17. Quick cytogenetic screening of breeding bulls using flow cytometric sperm DNA histogram analysis.

    Science.gov (United States)

    Nagy, Szabolcs; Polgár, Péter J; Andersson, Magnus; Kovács, András

    2016-09-01

    The aim of the present study was to test the FXCycle PI/RNase kit for routine DNA analyses in order to detect breeding bulls and/or insemination doses carrying cytogenetic aberrations. In a series of experiments we first established basic DNA histogram parameters of cytogenetically healthy breeding bulls by measuring the intraspecific genome size variation of three animals, then we compared the histogram profiles of bulls carrying cytogenetic defects to the baseline values. With the exception of one case the test was able to identify bulls with cytogenetic defects. Therefore, we conclude that the assay could be incorporated into the laboratory routine where flow cytometry is applied for semen quality control.

  18. Uptake of health care services and health status of HIV-infected women diagnosed through antenatal HIV screening in Barbados, 1996-2004 Utilización de los servicios de atención sanitaria y estado de salud de las mujeres seropositivas al VIH diagnosticadas mediante el tamizaje prenatal para el VIH en Barbados, 1996-2004

    OpenAIRE

    Alok Kumar; Krishna R. Kilaru; Sheila Forde; Ira Waterman

    2007-01-01

    OBJECTIVES: To study utilization of HIV-related health care services and to describe the health status of HIV-infected women diagnosed through antenatal voluntary counseling and testing (VCT) for HIV infection in Barbados. METHODS: This is a descriptive study. The study population includes all HIV-infected women in Barbados diagnosed as HIV-infected through VCT for HIV infection during 1996-2004. RESULTS: The median duration of HIV infection from time of diagnosis to the time of this report f...

  19. Cytogenetic Profile and Gene Mutations of Childhood Acute Lymphoblastic Leukemia

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    Nawaf Alkhayat

    2017-07-01

    Full Text Available Background: Childhood acute lymphoblastic leukemia (ALL is characterized by recurrent genetic aberrations. The identification of those abnormalities is clinically important because they are considered significant risk-stratifying markers. Aims: There are insufficient data of cytogenetic profiles in Saudi Arabian patients with childhood ALL leukemia. We have examined a cohort of 110 cases of ALL to determine the cytogenetic profiles and prevalence of FLT3 mutations and analysis of the more frequently observed abnormalities and its correlations to other biologic factors and patient outcomes and to compare our results with previously published results. Materials and methods: Patients —We reviewed all cases from 2007 to 2016 with an established diagnosis of childhood ALL. Of the 110 patients, 98 were B-lineage ALL and 12 T-cell ALL. All the patients were treated by UKALL 2003 protocol and risk stratified according previously published criteria. Cytogenetic analysis —Chromosome banding analysis and fluorescence in situ hybridization were used to detect genetic aberrations. Analysis of FLT3 mutations —Bone marrow or blood samples were screened for FLT3 mutations (internal tandem duplications, and point mutations, D835 using polymerase chain reaction methods. Result: Cytogenetic analysis showed chromosomal anomalies in 68 out of 102 cases with an overall incidence 66.7%. The most frequent chromosomal anomalies in ALL were hyperdiploidy, t(9;22, t(12;21, and MLL gene rearrangements. Our data are in accordance with those published previously and showed that FLT3 mutations are not common in patients with ALL (4.7% and have no prognostic relevance in pediatric patients with ALL. On the contrary, t(9;22, MLL gene rearrangements and hypodiploidy were signs of a bad prognosis in childhood ALL with high rate of relapse and shorter overall survival compared with the standard-risk group ( P  = .031.The event-free survival was also found to be worse ( P

  20. Prenatal MRI evaluation of limb-body wall complex

    Energy Technology Data Exchange (ETDEWEB)

    Aguirre-Pascual, Elisa [Perelman School of Medicine at the University of Pennsylvania, Department of Radiology, The Children' s Hospital of Philadelphia, Philadelphia, PA (United States); Hospital Universitario Doce de Octubre, Department of Radiology, Madrid (Spain); Epelman, Monica [Perelman School of Medicine at the University of Pennsylvania, Department of Radiology, The Children' s Hospital of Philadelphia, Philadelphia, PA (United States); Nemours Children' s Hospital, Department of Medical Imaging, Orlando, FL (United States); Johnson, Ann M.; Chauvin, Nancy A.; Coleman, Beverly G.; Victoria, Teresa [Perelman School of Medicine at the University of Pennsylvania, Department of Radiology, The Children' s Hospital of Philadelphia, Philadelphia, PA (United States)

    2014-11-15

    The sonographic (US) features of limb-body wall complex have been well documented; however the literature regarding the findings on MRI in limb-body wall complex is scant. To characterize the prenatal MRI features of limb-body wall complex. We performed a retrospective review of all MRI scans of fetuses diagnosed with limb-body wall complex at our institution from 2001 to 2011. Fetuses without correlating US scans or follow-up information were excluded. Three pediatric radiologists blinded to the specific US findings reviewed the prenatal MRIs. Images were evaluated for the organ location and attachment, the body part affected, characterization of the body wall defect, and spinal, limb and umbilical cord abnormalities. Ten subjects met inclusion criteria. MRI was able to detect and characterize the body part affected and associated abnormalities. All fetuses had ventral wall defects, a small thorax and herniated liver and bowel. The kidneys were extracorporeal in three cases. The extruded organs were attached to the placenta or the uterine wall in all cases. Abnormal spinal curvatures of various degrees of severity were present in all cases. Eight cases had a short, uncoiled cord. Limb anomalies were present in 6 of the 10 cases. We illustrate the common fetal MRI findings of limb-body wall complex. The prenatal diagnosis of limb-body wall complex and the differentiation of this defect from treatable abdominal wall defects are crucial to providing appropriate guidance for patient counseling and management. (orig.)

  1. Prenatal Maternal Smoking and Tourette Syndrome: A Nationwide Register Study.

    Science.gov (United States)

    Leivonen, Susanna; Chudal, Roshan; Joelsson, Petteri; Ekblad, Mikael; Suominen, Auli; Brown, Alan S; Gissler, Mika; Voutilainen, Arja; Sourander, Andre

    2016-02-01

    This is the first nationwide register-based study to examine the relationship between prenatal maternal smoking and Tourette syndrome. A total of 767 children diagnosed with Tourette syndrome were identified from the Finnish Hospital Discharge Register. Each case was matched to four controls. Information on maternal smoking during pregnancy was obtained from the Finnish Medical Birth Register. Conditional logistic regression models were used for statistical analyses. Prenatal maternal smoking was associated with Tourette syndrome when comorbid with ADHD (OR 4.0, 95 % CI 1.2-13.5, p = 0.027 for exposure during first trimester, OR 1.7, 95 % CI, 1.05-2.7, p = 0.031 for exposure for the whole pregnancy). There was no association between maternal smoking during pregnancy and Tourette syndrome without comorbid ADHD (OR 0.5, 95 % CI 0.2-1.3, p = 0.166, OR 0.9, 95 % CI 0.7-1.3, p = 0.567). Further research is needed to elucidate the mechanisms behind the association between prenatal maternal smoking and Tourette syndrome with comorbid ADHD.

  2. Prenatal diagnosis in Islamic countries: A narrative review in 2013

    Directory of Open Access Journals (Sweden)

    Mehrnoush Kosaryan

    2014-02-01

    Full Text Available To review the current situation regarding prenatal diagnosis in Islamic countries, a descriptive study (narrative review has been done based on the available data in formal international and national published documents in 2013. The sources were papers, websites and electronic books. Time limitation of searches has started 20 years ago. The main languages were English and Persian. Forty seven nations were officially referred as Islamic since more than 50% of the citizens are Muslims. The holy Qur'an and Islamic traditions (Shari'aht are the core of the civil laws, however, the legal grounds for prenatal diagnosis differ in Islamic countries. The main ground is the endangerment of a mother's life, however, severe suffering of parents (Osr va Haraj is also considered in the Islamic Republic of Iran. Some other important issues such as pregnancies as a result of rape should be discussed more in some Islamic countries. Many “hard to treat diseases” such as chromosomal disorders, major hemoglobinopathies, inborn error of metabolism, Duchene muscular dystrophy, spinal muscular dystrophy are being diagnosed early in embryonic period that medical abortion is advisable. Prenatal diagnosis is an acceptable practice in both religious and secular governments in the so-called Islamic countries

  3. Parental response to severe or lethal prenatal diagnosis

    DEFF Research Database (Denmark)

    Lou, Stina; Jensen, Lotte Groth; Petersen, Olav Bjørn

    2017-01-01

    Objective A severe or lethal prenatal diagnosis places great demands on prospective parents, who face choices of far-reaching consequences, such as continuing or terminating the pregnancy. How best to support these parents is a clinical challenge. This systematic review aimed to identify and synt......Objective A severe or lethal prenatal diagnosis places great demands on prospective parents, who face choices of far-reaching consequences, such as continuing or terminating the pregnancy. How best to support these parents is a clinical challenge. This systematic review aimed to identify...... and synthesize the qualitative evidence regarding prospective parents’ responses to such prenatal diagnoses. Methods Following PRISMA guidelines, four databases were systematically searched and 28 studies met the inclusion criteria. Thematic analysis guided data extraction and synthesis of findings. The CERQual....... Prospective parents who continued the pregnancy wished to be acknowledged as parents, and engaged in planning to obtain a sense of meaning and control. Selective disclosure and concerns about negative responses were issues both for the parents who terminated and those who continued a pregnancy. Conclusion...

  4. Bartter syndrome prenatal diagnosis based on amniotic fluid biochemical analysis.

    Science.gov (United States)

    Garnier, Arnaud; Dreux, Sophie; Vargas-Poussou, Rosa; Oury, Jean-François; Benachi, Alexandra; Deschênes, Georges; Muller, Françoise

    2010-03-01

    Bartter syndrome is an autosomic recessive disease characterized by severe polyuria and sodium renal loss. The responsible genes encode proteins involved in electrolyte tubular reabsorption. Prenatal manifestations, mainly recurrent polyhydramnios because of fetal polyuria, lead to premature delivery. After birth, polyuria leads to life-threatening dehydration. Prenatal genetic diagnosis needs an index case. The aim of this study was to analyze amniotic fluid biochemistry for the prediction of Bartter syndrome. We retrospectively studied 16 amniotic fluids of Bartter syndrome-affected fetuses diagnosed after birth, only six of them being genetically proven. We assayed total proteins, alpha-fetoprotein, and electrolytes and defined a Bartter index corresponding to the multiplication of total protein and of alpha-fetoprotein. Results were compared with two control groups matched for gestational age-non-Bartter polyhydramnios (n = 30) and nonpolyhydramnios (n = 60). In Bartter syndrome, we observed significant differences (p Bartter index (0.16, 0.82, and 1.0, respectively). No statistical difference was observed for electrolytes. In conclusion, Bartter syndrome can be prenatally suspected on amniotic fluid biochemistry (sensitivity 93% and specificity 100%), allowing appropriate management before and after birth.

  5. The Polish National Registry for Fetal Cardiac Pathology: organization, diagnoses, management, educational aspects and telemedicine endeavors.

    Science.gov (United States)

    Slodki, Maciej; Szymkiewicz-Dangel, Joanna; Tobota, Zdzislaw; Seligman, Neil S; Weiner, Stuart; Respondek-Liberska, Maria

    2012-05-01

    We describe the National Registry for Fetal Cardiac Pathology, a program under the Polish Ministry of Health aimed at improving the prenatal diagnosis, care, and management of congenital heart disease (CHD). An online database was created to prospectively record diagnosis, prenatal care, delivery, follow-up, and still images and video for fetuses with CHD. A certification program in fetal cardiac ultrasound was also implemented. Optimal screening and referral centers were identified by number of fetuses entered in the Registry yearly by each center. From 2004 to 2009, 2910 fetuses with CHD were registered (2473 structural, 437 functional anomalies). The most common reasons for referral for fetal echocardiography were abnormal four-chamber view (56.0%) and extra-cardiac anomalies (8.2% ), while the most common diagnoses were atrioventricular septal defects (10.2%) and hypoplastic left heart syndrome (9.7%). Prenatal diagnosis increased yearly, from 10.0% of neonatal diagnoses in 2003 to 38.0% in 2008. From inception of the registry up to 2009 there has been a fourfold increase in the number of neonates referred for cardiac surgery in whom the condition was prenatally diagnosed. Equally important achievements include the establishment of a certification program for fetal echocardiography and the organization of prenatal and neonatal management. © 2012 John Wiley & Sons, Ltd.

  6. Voiding cystourethrogram in the diagnosis of vesicoureteric reflux in children with antenatally diagnosed hydronephrosis

    Directory of Open Access Journals (Sweden)

    R B Nerli

    2008-12-01

    Full Text Available R B Nerli, S S Amarkhed, I R RavishDepartment of Urology, Kles Kidney Foundation, Nehru Nagar, Belgaum, IndiaAbstract: Prenatal ultrasonography has revolutionized the detection and management of many urological abnormalities. Vesicoureteric reflux (VUR which develops in 10% to 15% of cases of prenatal hydronephrosis, is difficult to predict prenatally. While all children with prenatal hydronephrosis should undergo ultrasonography within the first few weeks of life, there seems to be controversy regarding the role of voiding cystourethrogram (VCUG in the assessment of these children.Materials and methods: Neonates with antenatally diagnosed unilateral hydronephrosis were prospectively assessed with sonography on day 3–7, and VCUG and isotope imaging at three months.Results: Seven (16.6% children of the 42 children with Society of Fetal Urology grade 0/I/II hydronephrosis on postnatal sonography had evidence of VUR on VCUG. 44.4% of the refluxing ureters identified involved high grade disease and two (28.5% children required reimplantation.Conclusions: Children with fetal reflux may be diagnosed prior to urinary tract infection and in whom further renal injury may be prevented. VCUG when performed properly is safe and presents with little risk of infectious and noninfectious complications. VCUG should be done in children in whom hydronephrosis is detected prenatally to restrict the use of VCUG to diagnose VUR. Two patients had infection.Keywords: antenatal hydronephrosis, voiding cystourethrogram, vesicoureteric reflux

  7. Low Rate of Prenatal Diagnosis among Neonates with Critical Aortic Stenosis: Insight into the Natural History In Utero (Aortic Stenosis)

    Science.gov (United States)

    Freud, Lindsay R.; Moon-Grady, Anita; Escobar-Diaz, Maria C.; Gotteiner, Nina L.; Young, Luciana T.; McElhinney, Doff B.; Tworetzky, Wayne

    2014-01-01

    Objectives To better understand the natural history and spectrum of fetal aortic stenosis (AS), we aimed to 1) determine the prenatal diagnosis rate of neonates with critical AS and a biventricular (BV) outcome; and 2) describe the findings at fetal echocardiography in prenatally diagnosed patients. Methods A multi-center, retrospective study was performed from 2000 to 2013. Neonates with critical AS who were discharged with a BV outcome were included. The prenatal diagnosis rate was compared to that reported for hypoplastic left heart syndrome (HLHS). Fetal echocardiographic findings in prenatally diagnosed patients were reviewed. Results Only 10 of 117 neonates (8.5%) with critical AS and a BV outcome were diagnosed prenatally, a rate significantly lower than that for HLHS in the contemporary era (82%; p<0.0001). Of the 10 patients diagnosed prenatally, all developed LV dysfunction by a median gestational age of 33 weeks (range, 28–35). When present, Doppler abnormalities such as retrograde flow in the aortic arch (n=2), monophasic mitral inflow (n=2), and left to right flow across the foramen ovale (n=8) developed late in gestation (median 33 weeks). Conclusion The prenatal diagnosis rate among neonates with critical AS and a BV outcome is very low, likely due to a relatively normal 4-chamber view in mid-gestation with development of significant obstruction in the 3rd trimester. This natural history contrasts with that of severe mid-gestation AS with evolving HLHS and suggests that the timing in gestation of significant AS has an important impact on subsequent left heart growth in utero. PMID:25251721

  8. Time of HIV Diagnosis and Engagement in Prenatal Care Impact Virologic Outcomes of Pregnant Women with HIV.

    Directory of Open Access Journals (Sweden)

    Florence M Momplaisir

    Full Text Available HIV suppression at parturition is beneficial for maternal, fetal and public health. To eliminate mother-to-child transmission of HIV, an understanding of missed opportunities for antiretroviral therapy (ART use during pregnancy and HIV suppression at delivery is required.We performed a retrospective analysis of 836 mother-to-child pairs involving 656 HIV-infected women in Philadelphia, 2005-2013. Multivariable regression examined associations between patient (age, race/ethnicity, insurance status, drug use and clinical factors such as adequacy of prenatal care measured by the Kessner index which classifies prenatal care as inadequate, intermediate, or adequate prenatal care; timing of HIV diagnosis; and the outcomes: receipt of ART during pregnancy and viral suppression at delivery.Overall, 25% of the sample was diagnosed with HIV during pregnancy; 39%, 38%, and 23% were adequately, intermediately, and inadequately engaged in prenatal care. Eight-five percent of mother-to-child pairs received ART during pregnancy but only 52% achieved suppression at delivery. Adjusting for patient factors, pairs diagnosed with HIV during pregnancy were less likely to receive ART (AOR 0.39, 95% CI 0.25-0.61 and achieve viral suppression (AOR 0.70, 95% CI 0.49-1.00 than those diagnosed before pregnancy. Similarly, women with inadequate prenatal care were less likely to receive ART (AOR 0.06, 95% CI 0.03-0.11 and achieve viral suppression (AOR 0.31, 95% CI 0.20-0.47 than those with adequate prenatal care.Targeted interventions to diagnose HIV prior to pregnancy and engage HIV-infected women in prenatal care have the potential to improve HIV related outcomes in the perinatal period.

  9. Time of HIV Diagnosis and Engagement in Prenatal Care Impact Virologic Outcomes of Pregnant Women with HIV.

    Science.gov (United States)

    Momplaisir, Florence M; Brady, Kathleen A; Fekete, Thomas; Thompson, Dana R; Diez Roux, Ana; Yehia, Baligh R

    2015-01-01

    HIV suppression at parturition is beneficial for maternal, fetal and public health. To eliminate mother-to-child transmission of HIV, an understanding of missed opportunities for antiretroviral therapy (ART) use during pregnancy and HIV suppression at delivery is required. We performed a retrospective analysis of 836 mother-to-child pairs involving 656 HIV-infected women in Philadelphia, 2005-2013. Multivariable regression examined associations between patient (age, race/ethnicity, insurance status, drug use) and clinical factors such as adequacy of prenatal care measured by the Kessner index which classifies prenatal care as inadequate, intermediate, or adequate prenatal care; timing of HIV diagnosis; and the outcomes: receipt of ART during pregnancy and viral suppression at delivery. Overall, 25% of the sample was diagnosed with HIV during pregnancy; 39%, 38%, and 23% were adequately, intermediately, and inadequately engaged in prenatal care. Eight-five percent of mother-to-child pairs received ART during pregnancy but only 52% achieved suppression at delivery. Adjusting for patient factors, pairs diagnosed with HIV during pregnancy were less likely to receive ART (AOR 0.39, 95% CI 0.25-0.61) and achieve viral suppression (AOR 0.70, 95% CI 0.49-1.00) than those diagnosed before pregnancy. Similarly, women with inadequate prenatal care were less likely to receive ART (AOR 0.06, 95% CI 0.03-0.11) and achieve viral suppression (AOR 0.31, 95% CI 0.20-0.47) than those with adequate prenatal care. Targeted interventions to diagnose HIV prior to pregnancy and engage HIV-infected women in prenatal care have the potential to improve HIV related outcomes in the perinatal period.

  10. Prenatal education for congenital toxoplasmosis.

    Science.gov (United States)

    Di Mario, Simona; Basevi, Vittorio; Gagliotti, Carlo; Spettoli, Daniela; Gori, Gianfranco; D'Amico, Roberto; Magrini, Nicola

    2015-10-23

    Congenital toxoplasmosis is considered a rare but potentially severe infection. Prenatal education about congenital toxoplasmosis could be the most efficient and least harmful intervention, yet its effectiveness is uncertain. To assess the effects of prenatal education for preventing congenital toxoplasmosis. We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (31 May 2015), and reference lists of relevant papers, reviews and websites. Randomized and quasi-randomized controlled trials of all types of prenatal education on toxoplasmosis infection during pregnancy. Cluster-randomized trials were eligible for inclusion. Two review authors independently assessed trials for inclusion and risk of bias, extracted data and checked them for accuracy. Two cluster-randomized controlled trials (RCTs) (involving a total of 5455 women) met the inclusion criteria. The two included trials measured the effectiveness of the intervention in different ways, which meant that meta-analysis of the results was not possible. The overall quality of the two studies, as assessed using the GRADE approach, was low, with high risk of detection and attrition bias in both included trials.One trial (432 women enrolled) conducted in Canada was judged of low methodological quality. This trial did not report on any of the review's pre-specified primary outcomes and the secondary outcomes reported results only as P values. Moreover, losses to follow-up were high (34%, 147 out of 432 women initially enrolled). The authors concluded that prenatal education can effectively change pregnant women's behavior as it increased pet, personal and food hygiene. The second trial conducted in France was also judged of low methodological quality. Losses to follow-up were also high (44.5%, 2233 out of 5023 women initially enrolled) and differential (40% in the intervention group and 52% in the control group). The authors concluded that prenatal education for congenital toxoplasmoses has a

  11. Diagnóstico prenatal de artrogriposis múltiple congénita Prenatal diagnosis of arthrogryposis multiplex congenita

    Directory of Open Access Journals (Sweden)

    Ivonne Martínez Vidal

    2013-03-01

    Full Text Available La artrogriposis múltiple congénita puede definirse como una displasia articular sistémica, caracterizada por rigidez articular en múltiples localizaciones de forma congénita. Se presenta un caso en el que se diagnosticó prenatalmente este signo clínico, que puede tener múltiples causas subyacentes.Arthrogryposis multiplex congenita may be defined as a systemic articular dysplasia characterized by articular rigidity in a many locations of congenital origin. A case was presented in which this clinical sign was diagnosed at prenatal phase and it may have many underlying causes.

  12. Impact of baseline cytogenetic findings and cytogenetic response on outcome of high-risk myelodysplastic syndromes and low blast count AML treated with azacitidine.

    Science.gov (United States)

    Sébert, Marie; Komrokji, Rami S; Sekeres, Mikkael A; Prebet, Thomas; Cluzeau, Thomas; Santini, Valeria; Gyan, Emmanuel; Sanna, Alessandro; Ali, Najla HAl; Hobson, Sean; Eclache, Virginie; List, Alan; Fenaux, Pierre; Adès, Lionel

    2017-12-01

    Karyotype according to the revised IPSS is a strong independent prognostic factor for overall survival (OS) in myelodysplastic syndromes (MDS), however established in untreated patients. The prognostic impact of cytogenetics and cytogenetic response (CyR) in MDS patients receiving azacitidine (AZA) remains uncertain. We examined the prognostic value of baseline cytogenetics and CyR for overall response rate (ORR) and OS in 702 AZA-treated higher risk MDS and low blast count acute myeloid leukemia (AML), including 493 (70%) with abnormal karyotype. None of the cytogenetic abnormalities had significant impact on ORR (43.9%) or complete response (15.35%), except 3q abnormalities and complex karyotypes, which were associated with a lower ORR. OS differed significantly across all R-IPSS cytogenetic subgroups (pcytogenetics. CyR was achieved in 32% of the 281 evaluable patients with abnormal cytogenetics, was complete (CCyR) in 71 (25.3%) patients. We found no correlation between hematological response and cytogenetic response and 21% of the patients with CCyR did not achieve morphological response. In the 281 patients, we found no impact of CyR on survival, but when restricting to MDS (ie: <20% marrow blasts) achievement of CCyR was associated with better OS. Copyright © 2017 Elsevier Ltd. All rights reserved.

  13. Fetal MRI clues to diagnose cloacal malformations

    Energy Technology Data Exchange (ETDEWEB)

    Calvo-Garcia, Maria A.; Kline-Fath, Beth M.; Patel, Manish N.; Kraus, Steven [Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States); Levitt, Marc A.; Pena, Alberto [Cincinnati Children' s Hospital Medical Center, Colorectal Center for Children, Pediatric Surgery, Cincinnati, OH (United States); Lim, Foong-Yen; Crombleholme, Timothy M. [Cincinnati Children' s Hospital Medical Center, Fetal Care Center of Cincinnati, Pediatric Surgery, Cincinnati, OH (United States); Linam, Leann E. [Arkansas Children' s Hospital, Department of Radiology, Little Rock, AR (United States)

    2011-09-15

    Prenatal US detection of cloacal malformations is challenging and rarely confirms this diagnosis. To define the prenatal MRI findings in cloacal malformations. We performed a retrospective study of patients with cloacal malformations who had pre- and post-natal assessment at our institution. Fetal MRI was obtained in six singleton pregnancies between 26 and 32 weeks of gestation. Imaging analysis was focused on the distal bowel, the urinary system and the genital tract and compared with postnatal clinical, radiological and surgical diagnoses. The distal bowel was dilated and did not extend below the bladder in five fetuses. They had a long common cloacal channel (3.5-6 cm) and a rectum located over the bladder base. Only one fetus with a posterior cloacal variant had a normal rectum. Three fetuses had increased T2 signal in the bowel and two increased T1/decreased T2 signal bladder content. All had renal anomalies, four had abnormal bladders and two had hydrocolpos. Assessment of the anorectal signal and pelvic anatomy during the third trimester helps to detect cloacal malformations in the fetus. The specificity for this diagnosis was highly increased when bowel fluid or bladder meconium content was identified. (orig.)

  14. Role of DNA repair in repair of cytogenetic damages. Contribution of repair of single-strand DNA breaks to cytogenetic damages repair

    International Nuclear Information System (INIS)

    Rozanova, O.M.; Zaichkina, S.I.; Aptikaev, G.F.; Ganassi, E.Eh.

    1989-01-01

    The comparison was made between the results of the effect of poly(ADP-ribosylation) ingibitors (e.g. nicotinamide and 3-aminobenzamide) and a chromatin proteinase ingibitor, phenylmethylsulfonylfluoride, on the cytogenetic damages repair, by a micronuclear test, and DNA repair in Chinese hamster fibroblasts. The values of the repair half-periods (5-7 min for the cytogenetic damages and 5 min for the rapidly repaired DNA damages) and a similar modyfying effect with regard to radiation cytogenetic damages and kynetics of DNA damages repair were found to be close. This confirms the contribution of repair of DNA single-strand breaks in the initiation of structural damages to chromosomes

  15. Cytogenetic heterogeneity and their serial dynamic changes during acquisition of cytogenetic aberrations in cultured mesenchymal stem cells

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jung-Ah [Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul (Korea, Republic of); Im, Kyong Ok; Park, Si Nae; Kwon, Ji Seok [Cancer Research Institute, Seoul National University College of Medicine, Seoul (Korea, Republic of); Kim, Seon Young [Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul (Korea, Republic of); Oh, Keunhee; Lee, Dong-Sup [Laboratory of Immunology and Cancer Biology, Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul (Korea, Republic of); Transplantation Research Institute, Seoul National University College of Medicine, Seoul National University College of Medicine, Seoul (Korea, Republic of); Kim, Min Kyung; Kim, Seong Who [Department of Biochemistry and Molecular Biology, Asan Medical Center, University of Ulsan College of Medicine, Seoul (Korea, Republic of); Jang, Mi; Lee, Gene [Lab of Molecular Genetics, School of Dentistry and Dental Research Institute, Seoul National University, Seoul (Korea, Republic of); Oh, Yeon-Mok; Lee, Sang Do [Department of Pulmonary and Critical Care Medicine, Asthma Center and Clinical Research Center for Chronic Obstructive Airway Diseases, Asan Medical Center, University of Ulsan College of Medicine, Seoul (Korea, Republic of); Lee, Dong Soon, E-mail: soonlee@snu.ac.kr [Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul (Korea, Republic of); Cancer Research Institute, Seoul National University College of Medicine, Seoul (Korea, Republic of)

    2015-07-15

    Highlights: • We evaluated cytogenetic aberrations of MSC during culture using G-banding and FISH. • We tracked the quantitative changes of each clone among heterogeneity upon passages. • The changes of cytogenetic profile upon passages were similar to cancer stem cell. - Abstract: To minimize the risk of tumorigenesis in mesenchymal stem cells (MSCs), G-banding analysis is widely used to detect chromosomal aberrations in MSCs. However, a critical limitation of G-banding is that it only reflects the status of metaphase cells, which can represent as few as 0.01% of tested cells. During routine cytogenetic testing in MSCs, we often detect chromosomal aberrations in minor cell populations. Therefore, we aimed to investigate whether such a minority of cells can expand over time or if they ultimately disappear during MSC passaging. We passaged MSCs serially while monitoring quantitative changes for each aberrant clone among heterogeneous MSCs. To investigate the cytogenetic status of interphase cells, which represent the main population, we also performed interphase FISH analysis, in combination with G-banding and telomere length determination. In human adipose tissue-derived MSCs, 4 types of chromosomal aberrations were found during culturing, and in umbilical cord MSCs, 2 types of chromosomal aberrations were observed. Sequential dynamic changes among heterogeneous aberrant clones during passaging were similar to the dynamic changes observed in cancer stem cells during disease progression. Throughout all passages, the quantitative G-banding results were inconsistent with those of the interphase FISH analysis. Interphase FISH revealed hidden aberrations in stem cell populations with normal karyotypes by G-banding analysis. We found that telomere length gradually decreased during passaging until the point at which cytogenetic aberrations appeared. The present study demonstrates that rare aberrant clones at earlier passages can become predominant clones during

  16. Cytogenetic heterogeneity and their serial dynamic changes during acquisition of cytogenetic aberrations in cultured mesenchymal stem cells

    International Nuclear Information System (INIS)

    Kim, Jung-Ah; Im, Kyong Ok; Park, Si Nae; Kwon, Ji Seok; Kim, Seon Young; Oh, Keunhee; Lee, Dong-Sup; Kim, Min Kyung; Kim, Seong Who; Jang, Mi; Lee, Gene; Oh, Yeon-Mok; Lee, Sang Do; Lee, Dong Soon

    2015-01-01

    Highlights: • We evaluated cytogenetic aberrations of MSC during culture using G-banding and FISH. • We tracked the quantitative changes of each clone among heterogeneity upon passages. • The changes of cytogenetic profile upon passages were similar to cancer stem cell. - Abstract: To minimize the risk of tumorigenesis in mesenchymal stem cells (MSCs), G-banding analysis is widely used to detect chromosomal aberrations in MSCs. However, a critical limitation of G-banding is that it only reflects the status of metaphase cells, which can represent as few as 0.01% of tested cells. During routine cytogenetic testing in MSCs, we often detect chromosomal aberrations in minor cell populations. Therefore, we aimed to investigate whether such a minority of cells can expand over time or if they ultimately disappear during MSC passaging. We passaged MSCs serially while monitoring quantitative changes for each aberrant clone among heterogeneous MSCs. To investigate the cytogenetic status of interphase cells, which represent the main population, we also performed interphase FISH analysis, in combination with G-banding and telomere length determination. In human adipose tissue-derived MSCs, 4 types of chromosomal aberrations were found during culturing, and in umbilical cord MSCs, 2 types of chromosomal aberrations were observed. Sequential dynamic changes among heterogeneous aberrant clones during passaging were similar to the dynamic changes observed in cancer stem cells during disease progression. Throughout all passages, the quantitative G-banding results were inconsistent with those of the interphase FISH analysis. Interphase FISH revealed hidden aberrations in stem cell populations with normal karyotypes by G-banding analysis. We found that telomere length gradually decreased during passaging until the point at which cytogenetic aberrations appeared. The present study demonstrates that rare aberrant clones at earlier passages can become predominant clones during

  17. Prenatal, perinatal and postnatal factors associated with autism spectrum disorder.

    Science.gov (United States)

    Hadjkacem, Imen; Ayadi, Héla; Turki, Mariem; Yaich, Sourour; Khemekhem, Khaoula; Walha, Adel; Cherif, Leila; Moalla, Yousr; Ghribi, Farhat

    To identify prenatal, perinatal and postnatal risk factors in children with autism spectrum disorder (ASD) by comparing them to their siblings without autistic disorders. The present study is cross sectional and comparative. It was conducted over a period of three months (July-September 2014). It included 101 children: 50 ASD's children diagnosed according to DSM-5 criteria and 51 unaffected siblings. The severity of ASD was assessed by the CARS. Our study revealed a higher prevalence of prenatal, perinatal and postnatal factors in children with ASD in comparison with unaffected siblings. It showed also a significant association between perinatal and postnatal factors and ASD (respectively p=0.03 and p=0.042). In this group, perinatal factors were mainly as type of suffering acute fetal (26% of cases), long duration of delivery and prematurity (18% of cases for each factor), while postnatal factors were represented principally by respiratory infections (24%). As for parental factors, no correlation was found between advanced age of parents at the moment of the conception and ASD. Likewise, no correlation was observed between the severity of ASD and different factors. After logistic regression, the risk factors retained for autism in the final model were: male gender, prenatal urinary tract infection, acute fetal distress, difficult labor and respiratory infection. The present survey confirms the high prevalence of prenatal, perinatal and postnatal factors in children with ASD and suggests the intervention of some of these factors (acute fetal distress and difficult labor, among others), as determinant variables for the genesis of ASD. Copyright © 2016 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  18. Prenatal, perinatal and postnatal factors associated with autism spectrum disorder

    Directory of Open Access Journals (Sweden)

    Imen Hadjkacem

    Full Text Available Abstract Objective: To identify prenatal, perinatal and postnatal risk factors in children with autism spectrum disorder (ASD by comparing them to their siblings without autistic disorders. Method: The present study is cross sectional and comparative. It was conducted over a period of three months (July-September 2014. It included 101 children: 50 ASD's children diagnosed according to DSM-5 criteria and 51 unaffected siblings. The severity of ASD was assessed by the CARS. Results: Our study revealed a higher prevalence of prenatal, perinatal and postnatal factors in children with ASD in comparison with unaffected siblings. It showed also a significant association between perinatal and postnatal factors and ASD (respectively p = 0.03 and p = 0.042. In this group, perinatal factors were mainly as type of suffering acute fetal (26% of cases, long duration of delivery and prematurity (18% of cases for each factor, while postnatal factors were represented principally by respiratory infections (24%. As for parental factors, no correlation was found between advanced age of parents at the moment of the conception and ASD. Likewise, no correlation was observed between the severity of ASD and different factors. After logistic regression, the risk factors retained for autism in the final model were: male gender, prenatal urinary tract infection, acute fetal distress, difficult labor and respiratory infection. Conclusions: The present survey confirms the high prevalence of prenatal, perinatal and postnatal factors in children with ASD and suggests the intervention of some of these factors (acute fetal distress and difficult labor, among others, as determinant variables for the genesis of ASD.

  19. Treatment With JAK Inhibitors in Myelofibrosis Patients Nullifies the Prognostic Impact of Unfavorable Cytogenetics.

    Science.gov (United States)

    Ma, Vincent T; Boonstra, Philip S; Menghrajani, Kamal; Perkins, Cecelia; Gowin, Krisstina L; Mesa, Ruben A; Gotlib, Jason R; Talpaz, Moshe

    2018-05-01

    In the era before Janus kinase (JAK) inhibitors, cytogenetic information was used to predict survival in myelofibrosis patients. However, the prognostic value of cytogenetics in the setting of JAK inhibitor therapy remains unknown. We performed a retrospective analysis of 180 patients with bone marrow biopsy-proven myelofibrosis from 3 US academic medical centers. We fit Cox proportional hazards models for overall survival and transformation-free survival on the bases of 3 factors: JAK inhibitor therapy as a time-dependent covariate, dichotomized cytogenetic status (favorable vs. unfavorable), and statistical interaction between the two. The median follow-up time was 37.1 months. Among patients treated with best available therapy, unfavorable cytogenetic status was associated with decreased survival (hazard ratio = 2.31; P = .025). At initiation of JAK inhibitor therapy, unfavorable cytogenetics was (nonsignificantly) associated with increased survival compared to favorable cytogenetics (hazard ratio = 0.292; P = .172). The ratio of hazard ratios was 0.126 (P = .034). These findings were similar after adjusting for standard clinical prognostic factors as well as when measured against transformation-free survival. The initiation of JAK inhibitor therapy appears to change the association between cytogenetics and overall survival. There was little difference in survival between treatment types in patients with favorable cytogenetics. However, the use of JAK inhibitor therapy among patients with unfavorable cytogenetics was not associated with worse survival compared to favorable cytogenetics. Our analyses suggest that initiation of JAK inhibitor therapy nullifies the negative prognostic implication of unfavorable cytogenetics established in the pre-JAK inhibitor therapy era. Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.

  20. Prenatal Screening Using Maternal Markers

    Directory of Open Access Journals (Sweden)

    Howard Cuckle

    2014-05-01

    Full Text Available Maternal markers are widely used to screen for fetal neural tube defects (NTDs, chromosomal abnormalities and cardiac defects. Some are beginning to broaden prenatal screening to include pregnancy complications such as pre-eclampsia. The methods initially developed for NTDs using a single marker have since been built upon to develop high performance multi-maker tests for chromosomal abnormalities. Although cell-free DNA testing is still too expensive to be considered for routine application in public health settings, it can be cost-effective when used in combination with existing multi-maker marker tests. The established screening methods can be readily applied in the first trimester to identify pregnancies at high risk of pre-eclampsia and offer prevention though aspirin treatment. Prenatal screening for fragile X syndrome might be adopted more widely if the test was to be framed as a form of maternal marker screening.

  1. Prenatal Diagnosis of Osteogenesis Imperfecta

    Directory of Open Access Journals (Sweden)

    Özgür Özyüncü

    2010-04-01

    Full Text Available Skeletal dysplasias are a group of diseases with a wide spectrum related to bone and cartilage. Some forms are lethal whereas some forms have milder clinical progression. Prenatal diagnosis of skeletal dysplasias may be possible especially when there is an index case in the family. Ultrasonography plays the central role in prenatal diagnosis and most common sonographic features are angulation of long bones, bending of femur or bowing signin the long bones. We present a case whose follow up for fetal short extremities ended with termination of pregnancy. The differential diagnosis is hard and depend especially on the fetal x-ray. Final diagnosis was lethal type osteogenesis imperfecta.

  2. Radioimmunoassays in prenatal genetic diagnosis

    International Nuclear Information System (INIS)

    Santavy, J.; Janouskova, M.; Fingerova, H.; Krikal, Z.

    1981-01-01

    Prenatal medicine strives to reveal hereditary disorders and congenital malformations before delivery. The application of RIA significantly widened the spectrum of available diagnostic possibilities. We first focused our attention on determining alpha-1-fetoprotein in the amniotic fluid and the serum. We used the results of 33 examinations of the amniotic fluid and 100 samples of the blood serum to compile a graph of physiological values during pregnancy. The graph is used in assessing clinical samples in suspect congenital disorders of neural tube closure and other malformations. In the last two years we have tested testosterone determination in the amniotic fluid to ascertain prenatally the fetal sex in early pregnancy. The results were satisfactory and agreed in 70.6%. (author)

  3. Prenatal diagnosis of boomerang dysplasia.

    Science.gov (United States)

    Wessels, Marja W; Den Hollander, Nicolette S; De Krijger, Ronald R; Bonifé, Luisa; Superti-Furga, Andrea; Nikkels, Peter G; Willems, Patrick J

    2003-10-01

    Boomerang dysplasia, atelosteogenesis type 1 and Piepkorn dysplasia are bone dysplasias with an overlapping clinical spectrum characterized by deficient formation and ossification of specific elements of the skeleton. Typical symptoms include micromelia with diminished ossification, and a characteristic bowed and boomerang-like aspect of the long tubular bones. We report here a new case of boomerang dysplasia, which was detected prenatally in the 16th week of gestation by ultrasound. Copyright 2003 Wiley-Liss, Inc.

  4. Prenatal diagnosis of chondrodysplasia punctata tibia-metacarpal type using multidetector CT and three-dimensional reconstruction

    Energy Technology Data Exchange (ETDEWEB)

    Miyazaki, Osamu [National Centre for Child Health and Development, Department of Radiology, Tokyo (Japan); Nishimura, Gen [Tokyo Metropolitan Kiyose Children' s Hospital, Department of Radiology, Tokyo (Japan); Sago, Haruhiko; Watanabe, Noriyoshi; Ebina, Shunsuke [National Centre for Child Health and Development, Department of Perinatal Medicine and Maternal Care, Tokyo (Japan)

    2007-11-15

    We report a case of chondrodysplasia punctata tibia-metacarpal type (CDP-TM) that was diagnosed prenatally using multidetector CT (MDCT) with three-dimensional (3-D) CT reconstructions. Prenatal US had shown severe thoracic hypoplasia and rhizomelic shortening of the limbs, raising the suspicion of thanatophoric dysplasia. However, MDCT showed punctate calcifications in the epiphyseal cartilage of the humeri and femora, carpal bones, and paravertebral region. On 3-D CT, the tibiae were much shorter than the fibulae, the humeri were very short and bowed, and severe platyspondyly was evident. These findings led to the diagnosis of CDP-TM. The diagnosis was confirmed on postnatal radiographs. Prenatal MDCT with 3-D images may make a useful contribution to prenatal diagnosis in selected fetuses with severe skeletal dysplasia. (orig.)

  5. Association of achondroplasia with Down syndrome: difficulty in prenatal diagnosis by sonographic and 3-D helical computed tomographic analyses.

    Science.gov (United States)

    Kaga, Akimune; Murotsuki, Jun; Kamimura, Miki; Kimura, Masato; Saito-Hakoda, Akiko; Kanno, Junko; Hoshi, Kazuhiko; Kure, Shigeo; Fujiwara, Ikuma

    2015-05-01

    Achondroplasia and Down syndrome are relatively common conditions individually. But co-occurrence of both conditions in the same patient is rare and there have been no reports of fetal analysis of this condition by prenatal sonographic and three-dimensional (3-D) helical computed tomography (CT). Prenatal sonographic findings seen in persons with Down syndrome, such as a thickened nuchal fold, cardiac defects, and echogenic bowel were not found in the patient. A prenatal 3-D helical CT revealed a large head with frontal bossing, metaphyseal flaring of the long bones, and small iliac wings, which suggested achondroplasia. In a case with combination of achondroplasia and Down syndrome, it may be difficult to diagnose the co-occurrence prenatally without typical markers of Down syndrome. © 2014 Japanese Teratology Society.

  6. "It's challenging on a personal level"--exploring the 'lived experience' of Australian and Canadian prenatal genetic counselors.

    Science.gov (United States)

    Menezes, Melody A; Hodgson, Jan M; Sahhar, Margaret A; Aitken, Maryanne; Metcalfe, Sylvia A

    2010-12-01

    Prenatal genetic counselors work with clients who are at risk of having a child with a fetal anomaly, or who have been diagnosed with a fetal anomaly. This can raise challenging ethical, moral and legal issues for both clients and counselors. Few studies have explored whether this type of work impacts on genetic counselors themselves. Interviews were conducted with 15 prenatal genetic counselors, five from Toronto, Canada and ten from Melbourne, Australia. A qualitative approach was used to allow for an in-depth exploration of the experiences of genetic counselors working in the prenatal setting. While participants reported that working in a prenatal setting affected them in several ways, this paper focuses on one particular unanticipated finding--that of the impact experienced by counselors from both countries while working when pregnant.

  7. Prenatal diagnosis of horseshoe lung and esophageal atresia

    International Nuclear Information System (INIS)

    Goldberg, Shlomit; Ringertz, Hans; Barth, Richard A.

    2006-01-01

    We present a case of horseshoe lung (HL) and esophageal atresia suspected prenatally on US imaging and confirmed with fetal MRI. Prenatal diagnosis of HL and esophageal atresia allowed for prenatal counseling and informed parental decisions. (orig.)

  8. Prenatal diagnosis of horseshoe lung and esophageal atresia

    Energy Technology Data Exchange (ETDEWEB)

    Goldberg, Shlomit; Ringertz, Hans [Stanford University School of Medicine, Radiology Department, Stanford, CA (United States); Barth, Richard A. [Stanford University School of Medicine, Radiology Department, Stanford, CA (United States); Lucile Packard Children' s Hospital, Radiology, Palo Alto, CA (United States)

    2006-09-15

    We present a case of horseshoe lung (HL) and esophageal atresia suspected prenatally on US imaging and confirmed with fetal MRI. Prenatal diagnosis of HL and esophageal atresia allowed for prenatal counseling and informed parental decisions. (orig.)

  9. Prenatal and Postnatal Management of Hydronephrosis

    Science.gov (United States)

    Rao, Pravin K.; Palmer, Jeffrey S.

    2009-01-01

    The majority of pregnant women in the U.S. undergo prenatal ultrasonography and approximately 0.5% of these examinations will detect fetal malformations. Up to one-half of these abnormalities include the genitourinary system and the most common urological finding is hydronephrosis. Some conditions associated with prenatal hydronephrosis portend a poor prognosis, while others can follow a fairly benign course. This review focuses on the definition and prenatal assessment of hydronephrosis, fetal intervention, and postnatal management. PMID:19618087

  10. Prenatal ultrasound diagnosis of omphalocele

    International Nuclear Information System (INIS)

    Rio Romero, Luskenia del; Blanco Figueredo, Nadia; Rodriguez Dominguez, Zulay

    2014-01-01

    Omphalocele is an abdominal wall defect at the midline characterized by herniation of abdominal contents and covered by peritoneum and amnion. The aim of this paper is to present a case of omphalocele with gestational age of 23 weeks and prenatal diagnosis by ultrasonography. Using ultrasound diagnosis in a patient inquest made 40 years of age in the second trimester (gestational age 23 weeks) showed a level of the anterior fetal echogenic image that sticks through the abdominal wall and then locate the cord umbilical. Stomach is seen displaced and loss of normal anatomy of the abdominal circumference. Genetic counseling was conducted at the Municipal Center for Genetics of Manzanillo. Pathologically the fetus presented short and wide neck, low-set ears, defect omphalomesenteric of ductal closure, hernia sac occupied by the caudate lobe of the liver and gallbladder bed, wide base heart dissection showing cava-cava absence of interventricular septum was observed pulmonary valve stenosis most dilation of supravalvular pulmonary artery, large defect and aorta intraventricular septum ride, which speaks in favor of a heart rate troncoconal fallop trilogy over the omphalocele. Prenatal diagnosis by ultrasonography is an efficient and reliable method for prenatal diagnosis of omphalocele

  11. [Recent advances in prenatal diagnostics].

    Science.gov (United States)

    Lapaire, O; Holzgreve, W; Miny, P; Hösli, I; Hahn, S; Tercanli, S

    2006-11-01

    During the last years, technical improvements have increased the possibilities in prenatal ultrasound. During the eighties and nineties, fetal malformations were increasingly detected and specified. Since a few years, the measurement of the fetal nuchal translucency between 11 and 14 weeks of gestation has been implemented to calculate the individual risk, in combination with most recent biochemical markers. Today, the sonographic measurement of the nuchal translucency is regarded as a valuable screening tool for chromosomal anomalies in prenatal medicine. Beside standardized examinations, a profound information and counseling of the pregnant women should be emphasized. With the improvement of the specific maternal risk calculation, using the sonographic measurement of the nuchal translucency, the biochemical markers and the maternal age, unnecessary invasive examinations may be prevented and their overall number can significantly be reduced. The same trend is seen in the whole field of prenatal medicine, illustrated by the detection of the fetal rhesus D status from the maternal blood and the use of Doppler ultrasound in the management of fetal anemia.

  12. Prenatal screening for fetal aneuploidy in singleton pregnancies.

    Science.gov (United States)

    Chitayat, David; Langlois, Sylvie; Douglas Wilson, R

    2011-07-01

    for aneuploidy, and it should not be used a basis for recommending invasive testing when non-invasive prenatal screening for aneuploidy is available. (II-2A) 4. Invasive prenatal diagnosis for cytogenetic analysis should not be performed without multiple marker screening results except for women who are at increased risk of fetal aneuploidy (a) because of ultrasound findings, (b) because the pregnancy was conceived by in vitro fertilization with intracytoplasmic sperm injection, or (c) because the woman or her partner has a history of a previous child or fetus with a chromosomal abnormality or is a carrier of a chromosome rearrangement that increases the risk of having a fetus with a chromosomal abnormality. (II-2E) 5. At minimum, any prenatal screen offered to Canadian women who present for care in the first trimester should have a detection rate of 75% with no more than a 3% false-positive rate. The performance of the screen should be substantiated by annual audit. (III-B) 6. The minimum standard for women presenting in the second trimester should be a screen that has a detection rate of 75% with no more than a 5% false-positive rate. The performance of the screen should be substantiated by annual audit. (III-B) 7. First trimester nuchal translucency should be interpreted for risk assessment only when measured by sonographers or sonologists trained and accredited for this service and when there is ongoing quality assurance (II-2A), and it should not be offered as a screen without biochemical markers in singleton pregnancies. (I-E) 8. Evaluation of the fetal nasal bone in the first trimester should not be incorporated as a screen unless it is performed by sonographers or sonologists trained and accredited for this service and there is ongoing quality assurance. (II-2E) 9. For women who undertake first trimester screening, second trimester serum alpha fetoprotein screening and/or ultrasound examination is recommended to screen for open neural tube defects. (II-1A) 10

  13. Prenatal Diagnosis of Iniencephaly: Clues and Pitfalls

    Directory of Open Access Journals (Sweden)

    Sertaç Esin

    2012-12-01

    Full Text Available Iniencephaly is a congenital malformation consisting of occipital bone defect with enlargement of the foramen magnum, cervical dysraphism and fixed retroflection of the head due to spinal deformities. A 38-years-old woman presented to Etlik Zubeyde Hanim Maternity Hospital perinatology clinic at 18 week of gestation. Ultrasonography revealed a large occipital encephalocele and short cervicothoracic spine. Termination of pregnancy was recommended with the diagnosis of iniencephaly but the family refused it because of religious concerns. She was lost in follow-up but at 38 weeks she presented to our department with regular uterine contractions. Ultrasonography revealed extreme retroflexion of the head, a very short cervicothoracic spine, an encephalocele and marked polyhydramnios. Due to severe retroflexion of the head, a caudal sweep motion of the ultrasound probe gave an impression of a posteriorly placed bladder. Normal chin and neck relation was lacking. A cesarean section was decided due to marked flexion of the spine. A female fetus was delivered weighing 2790 g, with Apgar scores of 1 at 1 min and 1 at 5 min. Iniencephaly is a lethal abnormality which may be diagnosed prenatally with striking ultrasonographic features.

  14. Prenatal diagnosis of homozygous familial hypercholesterolaemia

    International Nuclear Information System (INIS)

    Brown, M.S.; Kovanen, P.T.; Goldstein, J.L.; Eeckels, R.; Vandenberghe, K.; Van Den Berghe, H.; Fryns, J.P.; Cassiman, J.J.

    1978-01-01

    Cultured amniotic-fluid cells from a fetus at risk for homozygous familial hypercholesterolaemia (F.H.) almost completely lacked cell-surface receptors for plasma low-density lipoprotein (L.D.L.), as evidenced by direct measurement of binding, uptake, and degradation of 125 I-L.D.L. Functional consequences of L.D.L. binding to the receptor - i.e., suppression of 3-hydroxy-3-methylglutaryl coenzyme A reductase and stimulation of cholesterol esterification - were proportionately reduced when compared with results in cultured amniotic cells from two control fetuses. On the basis of these findings, homozygous F.H. was diagnosed and the pregnancy was terminated at the 20th week. The diagnosis of homozygous F.H. was confirmed by a serum-cholesterol of the aborted fetus of 279 mg/dl, a value 9 times the mean of four control fetuses of similar gestational age. More than 80% of the serum-cholesterol of the affected fetus was contained within L.D.L. Prenatal diagnosis of homozygous F.H. now seems practical; moreover, the finding of a raised serum-L.D.L. in the affected fetus indicates that the L.D.L. receptor is normally functional as early as the 20th week of fetal life. (author)

  15. Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome.

    Science.gov (United States)

    Mucciolo, Mafalda; Dello Russo, Claudio; D'Emidio, Laura; Mesoraca, Alvaro; Giorlandino, Claudio

    2016-06-16

    Cardiofaciocutaneous syndrome (CFCS) belongs to a group of developmental disorders due to defects in the Ras/Mitogen-Activated Protein Kinase (RAS/MAPK) signaling pathway named RASophaties. While postnatal presentation of these disorders is well known, the prenatal and neonatal characteristics are less recognized. Noonan syndrome, Costello syndrome, and CFCS diagnosis should be considered in pregnancies with a normal karyotype and in the case of ultrasound findings such as increased nuchal translucency, polyhydramnios, macrosomia and cardiac defect. Because all the RASopathies share similar clinical features, their molecular characterization is complex, time consuming and expensive. Here we report a case of CFCS prenatally diagnosed through Next Generation Prenatal Diagnosis (NGPD), a new targeted approach that allows us to concurrently investigate all the genes involved in the RASophaties.

  16. Prenatal diagnosis of metatropic dysplasia: beware of the pseudo-bowing sign

    International Nuclear Information System (INIS)

    Garel, Catherine; Dhouib, Amira; Sileo, Chiara; Ducou le Pointe, Hubert; Cormier-Daire, Valerie

    2014-01-01

    Metatropic dysplasia is a very rare form of osteochondrodysplasia with only one case of prenatal diagnosis described in the literature. It is characterized by marked shortening of the long bones with severe platyspondyly and dumbbell-shape metaphyses. We report a case of metatropic dysplasia that was diagnosed prenatally and describe the findings on US and CT. The pregnancy was terminated and the post-mortem radiographs are shown. The woman had been referred for short and bowed long bones. Severe metaphyseal enlargement was a misleading finding because it had been misinterpreted as limb bowing. Thus when abnormal curvature of the long bones is observed at prenatal US, attention should be drawn not only to the diaphyses but also to the metaphyses because severe metaphyseal enlargement might be responsible for pseudo-bowing. (orig.)

  17. Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome

    Directory of Open Access Journals (Sweden)

    Mafalda Mucciolo

    2016-06-01

    Full Text Available Cardiofaciocutaneous syndrome (CFCS belongs to a group of developmental disorders due to defects in the Ras/Mitogen-Activated Protein Kinase (RAS/MAPK signaling pathway named RASophaties. While postnatal presentation of these disorders is well known, the prenatal and neonatal characteristics are less recognized. Noonan syndrome, Costello syndrome, and CFCS diagnosis should be considered in pregnancies with a normal karyotype and in the case of ultrasound findings such as increased nuchal translucency, polyhydramnios, macrosomia and cardiac defect. Because all the RASopathies share similar clinical features, their molecular characterization is complex, time consuming and expensive. Here we report a case of CFCS prenatally diagnosed through Next Generation Prenatal Diagnosis (NGPD, a new targeted approach that allows us to concurrently investigate all the genes involved in the RASophaties.

  18. Prenatal diagnosis of metatropic dysplasia: beware of the pseudo-bowing sign

    Energy Technology Data Exchange (ETDEWEB)

    Garel, Catherine [Trousseau Hospital, University Hospitals of the East of Paris, Department of Radiology, Paris (France); Hopital d' Enfants Armand-Trousseau, Department of Radiology, Paris (France); Dhouib, Amira; Sileo, Chiara; Ducou le Pointe, Hubert [Trousseau Hospital, University Hospitals of the East of Paris, Department of Radiology, Paris (France); Cormier-Daire, Valerie [Paris Descartes University, Sorbonne Paris Cite, Necker-Enfants-Malades Hospital, Department of Genetics, Paris (France)

    2014-03-15

    Metatropic dysplasia is a very rare form of osteochondrodysplasia with only one case of prenatal diagnosis described in the literature. It is characterized by marked shortening of the long bones with severe platyspondyly and dumbbell-shape metaphyses. We report a case of metatropic dysplasia that was diagnosed prenatally and describe the findings on US and CT. The pregnancy was terminated and the post-mortem radiographs are shown. The woman had been referred for short and bowed long bones. Severe metaphyseal enlargement was a misleading finding because it had been misinterpreted as limb bowing. Thus when abnormal curvature of the long bones is observed at prenatal US, attention should be drawn not only to the diaphyses but also to the metaphyses because severe metaphyseal enlargement might be responsible for pseudo-bowing. (orig.)

  19. Prenatal Diagnosis of a Case of Norrie Disease with Late Development of Bilateral Ocular Malformation.

    Science.gov (United States)

    Wu, Li Hong; Chen, Li-Hong; Xie, Hongning; Xie, Ying-Jun

    2017-06-01

    We report a case of Norrie disease, diagnosed by prenatal ultrasound, confirmed by Sanger sequencing of the DNP gene from the aborted fetal cord blood and histologically. Prenatal ultrasound revealed no abnormality in either eye at 22 +1 and 31 +4 gestational weeks, but at 36 +5 gestational weeks both eyes had massive vitreous cavity opacities with complete retinal detachment. Norrie disease was initially suspected because of an older male sibling with the disease. To our knowledge, prenatal ultrasound diagnosis of Norrie disease has been previously described only one case in 1993 in a 34-week-old fetus. The normal eye development until after 31 + 4 gestational weeks provides insight into the first manifestation and then the rapid progression of the eye disease.

  20. Rapid molecular cytogenetic analysis of X-chromosomal microdeletions: Fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency

    Energy Technology Data Exchange (ETDEWEB)

    Worley, K.C.; Lindsay, E.A.; McCabe, E.R.B. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1995-07-17

    Diagnosis of X-chromosomal microdeletions has relied upon the traditional methods of Southern blotting and DNA amplification, with carrier identification requiring time-consuming and unreliable dosage calculations. In this report, we describe rapid molecular cytogenetic identification of deleted DNA in affected males with the Xp21 contiguous gene syndrome (complex glycerol kinase deficiency, CGKD) and female carriers for this disorder. CGKD deletions involve the genes for glycerol kinase, Duchenne muscular dystrophy, and/or adrenal hypoplasia congenita. We report an improved method for diagnosis of deletions in individuals with CGKD and for identification of female carriers within their families using fluorescence in situ hybridization (FISH) with a cosmid marker (cosmid 35) within the glycerol kinase gene. When used in combination with an Xq control probe, affected males demonstrate a single signal from the control probe, while female carriers demonstrate a normal chromosome with two signals, as well as a deleted chromosome with a single signal from the control probe. FISH analysis for CGKD provides the advantages of speed and accuracy for evaluation of submicroscopic X-chromosome deletions, particularly in identification of female carriers. In addition to improving carrier evaluation, FISH will make prenatal diagnosis of CGKD more readily available. 17 refs., 2 figs.

  1. Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

    Science.gov (United States)

    Yau, Mabel; Khattab, Ahmed; New, Maria I

    2016-06-01

    Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is a monogenic disorder of adrenal steroidogenesis. To prevent genital ambiguity, in girls, prenatal dexamethasone treatment is administered early in the first trimester. Prenatal genetic diagnosis of CAH and fetal sex determination identify affected female fetuses at risk for genital virilization. Advancements in prenatal diagnosis are owing to improved understanding of the genetic basis of CAH and improved technology. Cloning of the CYP21A2 gene ushered in molecular genetic analysis as the current standard of care. Noninvasive prenatal diagnosis allows for targeted treatment and avoids unnecessary treatment of males and unaffected females. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. Comparison between cytogenetic damage induced in human lymphocytes by environmental chemicals or radiation

    Energy Technology Data Exchange (ETDEWEB)

    Cebulska-Wasilewska, A. [Institute of Nuclear Physics, Cracow (Poland)

    1997-12-31

    Author compared cytogenetic effects of chemicals (benzene and the member at benzene related compounds) and ionizing radiation on the human lymphocytes. Levels of various types of cytogenetic damage observed among people from petroleum plants workers groups are similar to the levels of damages detected in the blood of people suspected of the accidental exposure to a radiation source

  3. Comparison between cytogenetic damage induced in human lymphocytes by environmental chemicals or radiation

    International Nuclear Information System (INIS)

    Cebulska-Wasilewska, A.

    1997-01-01

    Author compared cytogenetic effects of chemicals (benzene and the member at benzene related compounds) and ionizing radiation on the human lymphocytes. Levels of various types of cytogenetic damage observed among people from petroleum plants workers groups are similar to the levels of damages detected in the blood of people suspected of the accidental exposure to a radiation source

  4. 40 CFR 798.5385 - In vivo mammalian bone marrow cytogenetics tests: Chromosomal analysis.

    Science.gov (United States)

    2010-07-01

    ... Genetic Toxicity § 798.5385 In vivo mammalian bone marrow cytogenetics tests: Chromosomal analysis. (a... chosen for the test. Slides shall be coded before microscopic analysis. (f) Data and report—(1) Treatment... cytogenetics tests: Chromosomal analysis. 798.5385 Section 798.5385 Protection of Environment ENVIRONMENTAL...

  5. Cytogenetic Profile of Down Syndrome Cases Seen by a General Genetics Outpatient Service in Brazil

    Science.gov (United States)

    Biselli, Joice; Goloni-Bertollo, Eny; Ruiz, Mariangela; Pavarino-Bertelli, Erika

    2009-01-01

    Down syndrome or trisomy 21 can be caused by three types of chromosomal abnormalities: free trisomy 21, translocation or mosaicism. The cytogenetic diagnosis, made through karyotypic examination, is important mainly to determine recurrence risks to assist genetic counselling. The object of this work was to carry out a cytogenetic profile of…

  6. Prenatal diagnosis: the irresistible rise of the 'visible fetus'.

    Science.gov (United States)

    Löwy, Ilana

    2014-09-01

    Prenatal diagnosis was developed in the 1970s, a result of a partly contingent coming together of three medical innovations-amniocentesis, the study of human chromosomes and obstetrical ultrasound-with a social innovation, the decriminalization of abortion. Initially this diagnostic approach was proposed only to women at high risk of fetal malformations. Later, however, the supervision of the fetus was extended to all pregnant women. The latter step was strongly favoured by professionals' aspiration to prevent the birth of children with Down syndrome, an inborn condition perceived as a source of suffering for families and a burden on public purse. Experts who promoted screening for 'Down risk' assumed that the majority of women who carry a Down fetus will decide to terminate the pregnancy, and will provide a private solution to a public health problem. The generalization of screening for Down risk increased in turn the frequency of diagnoses of other, confirmed or potential fetal pathologies, and of dilemmas linked with such diagnoses. Debates on such dilemmas are usually limited to professionals. The transformation of prenatal diagnosis into a routine medical technology was, to a great extent, an invisible revolution. Copyright © 2013 Elsevier Ltd. All rights reserved.

  7. Estimation of absorbed doses on the basis of cytogenetic methods

    International Nuclear Information System (INIS)

    Shevchenko, V.A.; Rubanovich, A.V.; Snigiryova, G.P.

    1998-01-01

    Long-term studies in the field of radiation cytogenetics have resulted in the discovery of relationship between induction of chromosome aberrations and the type of ionizing radiation, their intensity and dose. This has served as a basis of biological dosimetry as an area of application of the revealed relationship, and has been used in the practice to estimate absorbed doses in people exposed to emergency irradiation. The necessity of using the methods of biological dosimetry became most pressing in connection with the Chernobyl accident in 1986, as well as in connection with other radiation situations that occurred in nuclear industry of the former USSR. The materials presented in our works demonstrate the possibility of applying cytogenetic methods for assessing absorbed doses in populations of different regions exposed to radiation as a result of accidents at nuclear facilities (Chernobyl, the village Muslymovo on the Techa river, the Three Mile Island nuclear power station in the USA where an accident occurred in 1979). Fundamentally, new possibilities for retrospective dose assessment are provided by the FISH-method that permits the assessment of absorbed doses after several decades since the exposure occurred. In addition, the application of this method makes it possible to restore the dynamics of unstable chromosome aberrations (dicentrics and centric rings), which is important for further improvement of the method of biological dosimetry based on the analysis of unstable chromosome aberrations. The purpose of our presentation is a brief description of the cytogenetic methods used in biological dosimetry, consideration of statistical methods of data analysis and a description of concrete examples of their application. (J.P.N.)

  8. Cytogenetic characterization of Encyclia caximboensis cultivated in vitro (Orchidaceae

    Directory of Open Access Journals (Sweden)

    Gizelly Mendes Silva

    2015-12-01

    Full Text Available Encyclia caximboensis is an Amazonian species endemic to the Serra do Cachimbo, which is located between the northern of the Mato Grosso state and the southern part of Para state. Studies reporting in vitro cultivation and cytogenetic characterization of this species are still scarce. Therefore, the objective of this work was to determine the cytogenetic characteristics and to identify the nucleolar organizer regions (NORs of the species E. Caximboensis, cultivated in vitro. Seeds of E. caximboensis were disinfected using a syringe and subsequently cultivated in MS medium without growth regulators. The germination started after 20 days of culture, with the development of protocorm and 40,500 seedlings were obtained after 90 days of culture. To perform the cytogenetic characterization, root tips of 180-day-old seedlings were submitted to blocking treatment using 3 µM trifiuralin and then fixed in methanol-acetic acid solution, 3:1 (v/v. The meristems were submitted to enzymatic digestion, fixed in methanol-acetic acid solution, 3:1 (v/v and the slides were stained using 5% Giemsa solution. Ag-NOR banding was carried out on 20-day-old slides by incubation in 50% silver nitrate solution (AgNO3 for 19 hours. The results indicated that E. caximboensis has 2n=2x=24 with all metacentric type chromosomes, ranging from 1.88 to 0.66 pm in length, with simple NORs in small blocks localized in the proximal region of the third chromosome pair.

  9. Molecular cytogenetic of the Amoy croaker, Argyrosomus amoyensis (Teleostei, Sciaenidae)

    Science.gov (United States)

    Liao, Mengxiang; Zheng, Jiao; Wang, Zhiyong; Wang, Yilei; Zhang, Jing; Cai, Mingyi

    2017-08-01

    The family Sciaenidae is remarkable for its species richness and economic importance. However, the cytogenetic data available in this fish group are still limited, especially those obtained using fluorescence in situ hybridization (FISH). In the present study, the chromosome characteristics of a sciaenid species, Argyrosomus amoyensis, were examined with several cytogenetic methods, including dual-FISH with 18S and 5S rDNA probes, and a self-genomic in situ hybridization procedure (Self-GISH). The karyotype of A. amoyensis comprised 2n=48 acrocentric chromosomes. A single pair of nucleolar organizer regions (NORs) was located at the proximal position of chromosome 1, which was positive for silver nitrate impregnation (AgNO3) staining and denaturation-propidium iodide (DPI) staining but negative for Giemsa staining and 4',6-diamidino-2-phenylindole (DAPI) staining, and was confirmed by FISH with 18S rDNA probes. The 5S rDNA sites were located at the centromeric region of chromosome 3. Telomeric FISH signals were detected at all chromosome ends with different intensities, but internal telomeric sequences (ITSs) were not found. Self-GISH resulted in strong signals distributed at the centromeric regions of all chromosomes. C-banding revealed not only centromeric heterochromatin, but also heterochromatin that located on NORs, in interstitial and distal telomeric regions of specific chromosomes. These results suggest that the karyotype of Amoy croaker was relatively conserved and primitive. By comparison with the reported cytogenetic data of other sciaenids, it can be deduced that although the karyotypic macrostructure and chromosomal localization of 18S rDNA are conserved, the distribution of 5S rDNA varies dynamically among sciaenid species. Thus, the 5S rDNA sites may have different evolutionary dynamics in relation to other chromosomal regions, and have the potential to be effective cytotaxonomic markers in Sciaenidae.

  10. Cytogenetic changes induced by aqueous ferrofluids in agricultural plants

    Energy Technology Data Exchange (ETDEWEB)

    Racuciu, Mihaela [Faculty of Sciences, Lucian Blaga University, 10 Blvd. Victoriei, Sibiu 550012 (Romania)]. E-mail: mracuciu@yahoo.com; Creanga, Dorina [Faculty of Physics, Al. I. Cuza University, 11A Blvd.Copou, Iasi 700506 (Romania)

    2007-04-15

    In this paper, the authors present their results regarding the cellular division rate and the percentage of chromosomal aberrations in the root meristematic cells of agricultural plants when cultivated in the presence of different concentrations of aqueous ferrofluid, ranging between 10 and 250 {mu}L/L. The agricultural species (Zea mays) with a major role in the life of people was chosen for the experimental project. The water-based ferrofluid was prepared following the chemical co-precipitation method, using tetramethylammonium hydroxide as magnetite core stabilizer. Microscopic investigations (cytogenetic tests) resulted in the evaluation of the mitotic and chromosomal aberration index. They appeared to increase following ferrofluid addition.

  11. Value of amniocentesis versus fetal tissue for cytogenetic analysis in cases of fetal demise.

    Science.gov (United States)

    Bryant Borders, Ann E; Greenberg, Jessica; Plaga, Stacey; Shepard-Hinton, Megan; Yates, Carin; Elias, Sherman; Shulman, Lee P

    2009-01-01

    Use of fetal tissue for cytogenetic analysis in cases of second- and third-trimester fetal demise frequently results in unacceptably high failure rates. We reviewed our ongoing use of amniocentesis prior to uterine evacuation to determine if this provided a better source of cells for cytogenetic analysis. We compared cytogenetic results using fetal tissues obtained following uterine evacuation to our ongoing use of amniotic fluid cell obtained by transabdominal amniocentesis prior to uterine evacuation from 2003 to 2008. In 49 of the 63 cases evaluated by fetal tissue biopsies performed after uterine evacuation, a karyotypic analysis was obtained (77.8%). Among the 38 cases evaluated by amniocentesis, an amniotic fluid sample and fetal cytogenetic results were obtained in all 38 (100%) cases. Our findings indicate that amniocentesis is a more reliable source of cytogenetic information than fetal tissue in cases of second- and third-trimester fetal demise.

  12. Low-pass whole-genome sequencing in clinical cytogenetics

    DEFF Research Database (Denmark)

    Dong, Zirui; Zhang, Jun; Hu, Ping

    2016-01-01

    Purpose: Chromosomal microarray analysis is the gold standard for copy-number variant (CNV) detection in prenatal and postnatal diagnosis. We aimed to determine whether next-generation sequencing (NGS) technology could be an alternative method for CNV detection in routine clinical application. Me...

  13. Outcome of chromosomally abnormal pregnancies in Lebanon: obstetricians' roles during and after prenatal diagnosis.

    Science.gov (United States)

    Eldahdah, Lama T; Ormond, Kelly E; Nassar, Anwar H; Khalil, Tayma; Zahed, Laila F

    2007-06-01

    To better understand obstetrician experiences in Lebanon when disclosing abnormal amniocentesis results. Structured interviews with 38 obstetricians identified as caregivers from the American University of Beirut Medical Center Cytogenetics Laboratory database of patients with abnormal amniocentesis results between 1999 and 2005. Obstetricians were primarily male, Christian, and with an average of 14 years of experience. They reported doing most pre-amniocentesis counseling, including discussion of risk for common autosomal aneuplodies (95%), and procedure-related risk (95%). Obstetricians reported that 80% of patients at risk for aneuploidy underwent amniocentesis. The study population reported on 143 abnormal test results (124 autosomal abnormalities). When disclosing results, obstetricians reportedly discussed primarily physical and cognitive features of the diagnosis. They varied in levels of directiveness and comfort in providing information. Our records showed that 59% of pregnancies with sex chromosome abnormalities were terminated compared to 90% of those with autosomal aneuploidies; various reasons were proposed by obstetricians. This study is among the few to assess prenatal diagnosis practices in the Middle East, with a focus on the role of the obstetrician. Given the influence of culture and social norms on prenatal decision-making, it remains important to understand the various impacts on clinical practice in many nations. (c) 2007 John Wiley & Sons, Ltd.

  14. Cytogenetics findings at Turner Syndrome and their correlation with clinical findings

    Directory of Open Access Journals (Sweden)

    Amra Ćatović

    2005-08-01

    Full Text Available Turner Syndrome is a genetic condition in females that results from an abnormal chromosome. One of the X chromosomes is missing or misshapen in the most cells of the body. Three classics clinical symptoms of the syndrome are: incomplete sexual maturation, short stature and pterygium colli. Turner Syndrome is diagnosed by karyotyping. In the retrospective study for a twelve years period (1991-2002 correlation between clinical and cytogenetics findings was established in our Center among 47 examinees from all parts of Federation of Bosnia and Herzegovina, who had suspect clinical diagnosis of Turner Syndrome. The syndrome was demonstrated by cytogeneticsexaminations in 30(63,8% examinees and excluded in 17 (36,2% examinees. The most frequent karyotype is monosomy of X chromosome (45,X found at 63,3%, than isochromosome of Xq (46,XisoXq found at 16,7%, mosaic form (46,XX/45,X and deletion of Xp (46,XdelXp both at 6,7%, than deletion of Xq (46,XdelXq and ring of Xp (46,XX/46,XringXp both at 3,3%. Our results suggest that promptly and exactly diagnosis of Turner syndrome is very important due to introducing growth hormone therapy and estrogen therapy at a very young age.

  15. Estimation of cytogenetic risk in the process of non-destructive testing of welds

    Energy Technology Data Exchange (ETDEWEB)

    Fucic, A; Garaj-Vrhovac, V; Kubelka, D [Inst. for Medical Research and Occupational Health, Zagreb (Croatia); Novakovic, M [Ecotec, Zagreb (Croatia)

    1997-12-31

    The estimation of dose based on chromosomal aberration analyzis is a reliable and generally accepted method, and it indicates genome damages earlier than any other method used in medicine. However, according to available literature data it could be seen that in the cases of overexposure of radiographers detected by film dosimeter only skin changes are quite often diagnosed even without heamatological analyzis. Since no biodosimetrical study so far provides data on genome damages of radiographers caused by combined exposure to gamma irradiation and ultrasound the aim of this study was to compare the effects of the exposure to ionizing radiation alone and combined with application of ultrasound during the process of weld testing. It can be concluded that in cases of combined occupational exposure estimation of dose received by radiographers using film dosimetry should be accompanied by cytogenetic monitoring because personal dosimeter for ultrasound has not been constructed yet. In order to minimize health risk biomonitoring can detect possible synergistic action of both ultrasound and ionizing radiation which is not measurable by any physical method. (author).

  16. Cytogenetic and molecular characteristics of 25 Chilean patients with a variant Ph translocation.

    Science.gov (United States)

    Legues, Maria E; Encina, Andrea; Valenzuela, Mercedes; Palma, Tamara; Undurraga, Maria S

    2011-07-01

    Chronic myeloid leukemia (CML) is characterized by the presence of the Philadelphia chromosome (Ph), which results from a balanced translocation between chromosomes 9 and 22, the t(9;22)(q34;q11.2). In 5-10% of the cases, variants of the Ph (vPh) are detected, involving various breakpoints in addition to 9q34 and 22q11.2. Deletions on the der(9) and der(22) can be detected in approximately 10-15% of CML patients. The frequency of a deletion of the der(9) in vPh CML is variable. Most studies have shown high frequencies (30-45%) in this subgroup. We report the cytogenetic evaluation of 25 vPh cases, which represents 6.8% of the CML cases diagnosed at one institution in 20 years. The breakpoints of the partners of the vPh in our patients agree with those reported previously, except for a novel 18q23. We found a low incidence of deletions of the der(9) (10%) and der(22) (5%) in these patients, contrasting with several reports in the literature. This finding may reflect the extensive spectrum of aberrations in vPh, and the possibility that a considerable group of these aberrations may not affect the genetic stability of 5'ABL1 and 3'BCR. Epidemiologic differences may also exist and could explain our results. These differences would require further investigation. Copyright © 2011 Elsevier Inc. All rights reserved.

  17. Prenatal control of Hb Bart's disease in mainland China: can we do better?

    Science.gov (United States)

    He, Ping; Yang, Yu; Li, Ru; Li, Dong-Zhi

    2014-01-01

    The aim of the present study was to report a 3-year experience on the prenatal control of Hb Bart's (γ4) disease in Mainland China. All pregnancies with fetal Hb Bart's disease were included from January 2011 to December 2013. The main clinical characteristics of the affected pregnancies were reviewed, including maternal reproductive history, prenatal care in the current pregnancy, the gestation of pregnancy at the time of booking, the gestation at the time of prenatal diagnosis (PND), and the complications associated with the pregnancy. A total of 246 cases of fetal Hb Bart's disease were identified during the study period; among these, 177 (72.0%) were diagnosed in early gestation (≤24 weeks), and 69 (28.0%) in late gestation. Most (87.0%) of the patients presenting in late pregnancy had late or no prenatal care. Twenty (29.0%) had major obstetrical complications in patients presenting in late pregnancy, and five (5.0%) in patients presenting in relatively early pregnancy. The delay in PND deprived couples of opportunities to make informed decisions early in pregnancy. Efforts for designing and targeting strategies to improve the timeliness of prenatal care are urgently needed.

  18. Prenatal diagnosis of congenital hallux varus deformity associated with pericentric inversion of chromosome 9.

    Science.gov (United States)

    Gürel, Sebahat Atar

    2015-04-01

    Congenital hallux varus is a rare deformity of the great toe characterized by adduction of the hallux and medial displacement of the first metatarsophalangeal joint. Prenatal diagnosis of congenital hallux varus is presented herein. A 32-year-old woman was referred to our unit due to significant deviation of the fetal right great toe at 22(+2) weeks of pregnancy. Ultrasound examination revealed a thick and short great toe, which was significantly angulated medially on the right side. Amniocentesis was performed and the result was reported as inv(9) (p11;q12). After delivery, the clinical examination confirmed the prenatal diagnosis. To our knowledge, this is the first reported prenatal diagnosis of an isolated congenital hallux varus. Congenital hallux varus can be diagnosed easily in the prenatal period by 2-D and 4-D ultrasonography. Prenatal karyotyping should be taken into consideration, especially in the presence of associated anomalies, such as polydactyly and clubfoot. © 2014 The Author. Journal of Obstetrics and Gynaecology Research © 2014 Japan Society of Obstetrics and Gynecology.

  19. Developing a prenatal nursing care International Classification for Nursing Practice catalogue.

    Science.gov (United States)

    Liu, L; Coenen, A; Tao, H; Jansen, K R; Jiang, A L

    2017-09-01

    This study aimed to develop a prenatal nursing care catalogue of International Classification for Nursing Practice. As a programme of the International Council of Nurses, International Classification for Nursing Practice aims to support standardized electronic nursing documentation and facilitate collection of comparable nursing data across settings. This initiative enables the study of relationships among nursing diagnoses, nursing interventions and nursing outcomes for best practice, healthcare management decisions, and policy development. The catalogues are usually focused on target populations. Pregnant women are the nursing population addressed in this project. According to the guidelines for catalogue development, three research steps have been adopted: (a) identifying relevant nursing diagnoses, interventions and outcomes; (b) developing a conceptual framework for the catalogue; (c) expert's validation. This project established a prenatal nursing care catalogue with 228 terms in total, including 69 nursing diagnosis, 92 nursing interventions and 67 nursing outcomes, among them, 57 nursing terms were newly developed. All terms in the catalogue were organized by a framework with two main categories, i.e. Expected Changes of Pregnancy and Pregnancy at Risk. Each category had four domains, representing the physical, psychological, behavioral and environmental perspectives of nursing practice. This catalogue can ease the documentation workload among prenatal care nurses, and facilitate storage and retrieval of standardized data for many purposes, such as quality improvement, administration decision-support and researches. The documentations of prenatal care provided data that can be more fluently communicated, compared and evaluated across various healthcare providers and clinic settings. © 2016 International Council of Nurses.

  20. Cytogenetic effects induced by radiotherapy of cancer patients

    International Nuclear Information System (INIS)

    Ekhtiar, A.; Al-Achkar, W.

    2008-03-01

    Ionizing radiation plays a key role in the treatment of many neoplasias. But it is well known that ionizing radiation induce wide specter of DNA damages, including SSBs, DSBs, base damage, and DNA-protein cross links. As a consequence, a second tumor may be developed after the primary tumor therapy. Attempts have been made to evaluate the genotoxicity of ionizing radiation in patients undergoing radiotherapy. In the present work, the cytogenetic damage present in peripheral blood lymphocytes of patients (29 donors) treated with fractionated partial-body radiation therapy for Head-and-neck cancer patient was followed before, during and at the end of treatment by means of the cytokinesis-block micronucleus assay. These patients had no previous chemotherapy or radiotherapy. Our results indicate that the level of spontaneous cytogenetic damage in cancer patients and smokers control (3 donors) were higher than in healthy non smoking controls (3 donor). During and after treatment, increased of micronucleus cells frequencies were observed with increasing treatment doses.(author)

  1. Cytogenetic Analysis of 65 Women with Premature Ovarian Insufficiency

    Directory of Open Access Journals (Sweden)

    Seda Ates

    2016-09-01

    Full Text Available Aim: Premature ovarian insufficiency (POI is characterized as amenorrhea for more than 6 months, occurring before the age of 40, with an increased follicle-stimulating hormone and low estrogen concentrations. The aim of our study is to determine the types and distribution of cytogenetic abnormalities among women with POI. Material and Method: The study is based on the retrospective karyotype analysis of 65 women with idiopathic POI referred to the Medical Genetics Department at the Bezmialem Vakif University Hospital. Results: Chromosomal abnormalities were present in 12 of 65 cases (18.4%. All of them had numerical abnormalities of the X chromosome. The most frequently detected abnormalities were X chromosome mosaicisms. Two cases had fragile X premutation carriers. Eight (12.3% women were considered as familial POI. Discussion: Our results underline the essential role of the X chromosome in the etiology of POI. Therefore, regardless of clinical features and woman%u2019s age, cytogenetic investigations should be routinely performed in cases with POI.

  2. Molecular and cytogenetic assessment of Dipterygium glaucum genotoxicity

    Directory of Open Access Journals (Sweden)

    NADA H. ALTWATY

    2016-01-01

    Full Text Available ABSTRACT The aim of the present study is to assess the genotoxicity of Dipterygium glaucum grows widely in Saudi Arabia desert to produce safety herbal products. This work is considered the first and pioneer report so far due to the lack and poor evaluated reports of the plant species for their mutagensity, genotoxicity and cytogenetics effects. Cytogenetic effects of D. glaucum on mitotic in roots of Vicia faba showed reduction in mitotic activity using three extracts; water, ethanol and ethyl acetate. Chromosomal abnormalities were recorded that included stickiness of chromosomes, chromatin bridge, fragments, lagging chromosome and micronuclei. Protein bands and RAPD analyses of V. faba treated with three D. glaucum extracts revealed some newly induced proteins and DNA fragments and other disappeared. Chemical constitution of the plant species should be identified with their biological activities against human and animal cells like HeLa cancer cell line. We are recommending using additional genotoxicity tests and other toxicity tests on animal culture with different concentrations and also utilizing several drought and heat tolerant genes of the plant species in gene cloning to develop and improve other economical crop plants instead of using the species as oral herbal remedy

  3. Cytogenetically confirmed primary Ewing's sarcoma of the pancreas.

    Science.gov (United States)

    Golhar, Ankush; Ray, Samrat; Haugk, Beate; Singhvi, Suresh Kumar

    2017-05-04

    Ewing's sarcoma is a highly aggressive malignant tumour most commonly affecting long bones in children and adolescents. It is part of the Ewing's sarcoma family of tumours (ESFTs) that also include peripheral primitive neuroectodermal tumour and Askin's tumours. ESFTs share common cytogenetic aberrations, antigenic profiles and proto-oncogene expression with an overall similar clinical course. In 99% of ESFTs, genetic translocation with molecular fusion involves the EWSR1 gene on 22q12. Approximately 30% of ESFTs are extraosseous, most commonly occurring in the soft tissues of extremities, pelvis, retroperitoneum and chest wall. Primary presentation in solid organs is very rare but has been described in multiple sites including the pancreas. Accurate diagnosis of a Ewing's sarcoma in a solid organ is critical in facilitating correct treatment. We report the case of a 17-year-old girl with cytogenetically confirmed primary pancreatic Ewing's sarcoma and provide a brief review of the published literature. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  4. Prenatal sonographic diagnosis of focal musculoskeletal anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Ryu, Jung Kyu; Cho, Jeong Yeon; Lee, Young Ho; Kim, Ei Jeong; Chun, Yi Kyeong [Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2002-09-15

    Focal musculoskeletal anomalies are various and may be an isolated finding or may be found in conjunction with numerous associations, including genetic syndromes, Karyotype abnormals, central nervous system anomalies and other general musculoskeletal disorders. Early prenatal diagnosis of these focal musculoskeletal anomalies nor only affects prenatal care and postnatal outcome but also helps in approaching other numerous associated anomalies.

  5. Prenatal sonographic diagnosis of focal musculoskeletal anomalies

    International Nuclear Information System (INIS)

    Ryu, Jung Kyu; Cho, Jeong Yeon; Lee, Young Ho; Kim, Ei Jeong; Chun, Yi Kyeong

    2002-01-01

    Focal musculoskeletal anomalies are various and may be an isolated finding or may be found in conjunction with numerous associations, including genetic syndromes, Karyotype abnormals, central nervous system anomalies and other general musculoskeletal disorders. Early prenatal diagnosis of these focal musculoskeletal anomalies nor only affects prenatal care and postnatal outcome but also helps in approaching other numerous associated anomalies.

  6. Improved prenatal detection of chromosomal anomalies

    DEFF Research Database (Denmark)

    Frøslev-Friis, Christina; Hjort-Pedersen, Karina; Henriques, Carsten U

    2011-01-01

    Prenatal screening for karyotype anomalies takes place in most European countries. In Denmark, the screening method was changed in 2005. The aim of this study was to study the trends in prevalence and prenatal detection rates of chromosome anomalies and Down syndrome (DS) over a 22-year period....

  7. Prenatal Maternal Stress Programs Infant Stress Regulation

    Science.gov (United States)

    Davis, Elysia Poggi; Glynn, Laura M.; Waffarn, Feizal; Sandman, Curt A.

    2011-01-01

    Objective: Prenatal exposure to inappropriate levels of glucocorticoids (GCs) and maternal stress are putative mechanisms for the fetal programming of later health outcomes. The current investigation examined the influence of prenatal maternal cortisol and maternal psychosocial stress on infant physiological and behavioral responses to stress.…

  8. Pai syndrome: challenging prenatal diagnosis and management

    Energy Technology Data Exchange (ETDEWEB)

    Blouet, Marie [Centre Hospitalier Universitaire de Caen, Department of Radiology, Caen (France); University of Lower Normandie, Caen (France); Belloy, Frederique [Centre Hospitalier Universitaire de Caen, Department of Radiology, Caen (France); Jeanne-Pasquier, Corinne [Centre Hospitalier Universitaire de Caen, Department of Pathology, Caen (France); Leporrier, Nathalie [University of Lower Normandie, Caen (France); Centre Hospitalier Universitaire de Caen, Department of Genetics, Caen (France); Benoist, Guillaume [University of Lower Normandie, Caen (France); Centre Hospitalier Universitaire, Pole Femmes-Enfants, Department of Obstetrics and Gynecology, Caen (France)

    2014-09-15

    Pai syndrome is a rare disorder that includes midline cleft lip, pericallosal lipoma and cutaneous polyp of the face. We report a case of prenatal diagnosis using sonography and MRI. We emphasize the importance of facial examination with prenatal association of midline cleft lip and pericallosal lipoma in making the diagnosis of Pai syndrome. (orig.)

  9. Prenatal exposition on ionizing radiations

    International Nuclear Information System (INIS)

    2001-01-01

    The Sessions on Prenatal Exposition on Ionizing Radiations was organized by the Argentine Radioprotection Society, in Buenos Aires, between 8 and 9, November 2001. In this event, were presented papers on: biological effects of ionizing radiation; the radiation protection and the pregnant woman; embryo fetal development and its relationship with the responsiveness to teratogens; radioinduced delayed mental; neonatal irradiation: neurotoxicity and modulation of pharmacological response; pre implanted mouse embryos as a model of uranium toxicity studies; hereditary effects of the radiation and new advances from the UNSCEAR 2001; doses estimation in embryo

  10. Prenatal radiation doses from radiopharmaceuticals

    International Nuclear Information System (INIS)

    Rojo, A.M.; Gomez Parada, I.M.; Di Trano, J.L.

    1998-01-01

    The radiopharmaceutical administration with diagnostic or therapeutic purpose during pregnancy implies a prenatal radiation dose. The dose assessment and the evaluation of the radiological risks become relevant due to the great radiosensitivity of the fetal tissues in development. This paper is a revision of the available data for estimating fetal doses in the cases of the more frequently used radiopharmaceuticals in nuclear medicine, taking into account recent investigation in placental crossover. The more frequent diagnostic and therapeutic procedures were analyzed according to the radiation doses implied. (author) [es

  11. Being publicly diagnosed

    DEFF Research Database (Denmark)

    Konradsen, Hanne; Lillebaek, Troels; Wilcke, Torgny

    2014-01-01

    a patient with TB, and finally being in medical treatment. Before being diagnosed with TB, patients were weighing between biding their time and deciding to undergo an examination. Social pressure and feelings of social responsibility tended to affect the decision. Having undergone the examination......INTRODUCTION: Tuberculosis (TB) is a disease which affects people worldwide, but there is knowledge lacking about patients' experiences in low-prevalence and high-income countries. AIM: To provide a theoretical framework for the process of being diagnosed with tuberculosis in a Danish setting....... METHOD: A grounded theory design with field studies and qualitative interviews, following the recommendations from Glaser and Strauss. RESULT: A process of being publicly diagnosed was identified, which developed during the patient's trajectory from being on the way to becoming a patient, becoming...

  12. Prenatal diagnosis of the acute meconium peritonitis secondary to ileum volvulus perforation: a case report.

    Science.gov (United States)

    Keskin, Uğur; Karasahin, Kazım Emre; Ozturk, Mustafa; Atabek, Cüneyt; Demirbağ, Suzi; Ergün, Ali

    2015-02-01

    This is an unusual case in comparison to other sonographically described prenatal cases due to very early diagnosis and surgical intervention following prompt delivery. A 40-year-old pregnant, ultrasonography showed presence of cystic structure in the fetal abdomen that was consistent with intestinal dilatation. At 32 weeks' of gestation, repeat ultrasound showed collapse of the bowel dilatation along with the presence of hyperechogenic fluid in the fetal abdominal cavity. Cesarean section was performed. The clinical utility of this report is the recognition that meconium peritonitis (MP) may be diagnosed in the acute phase with typical ultrasound features, and should be considered in the differential diagnoses of cases presented with reduced fetal movements. Although it appears that morbidity and mortality in MP cases depend upon gestational age, this case report may help to manage similar cases for defining the appropriate delivery time and treatment modality after prenatal identification of the problem.

  13. Prenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis: A case report study.

    Science.gov (United States)

    Theofanakis, Charalampos; Theodora, Marianna; Sindos, Michail; Daskalakis, George

    2017-12-01

    Sirenomelia and anencephaly are well-defined congenital malformations that usually occur independently. We report a case of combined sirenomelia, anencephaly and complete rachischisis, diagnosed in the 16th week of gestation. To our knowledge, this is the 7th case in the literature and the first that is diagnosed so early in pregnancy. The final diagnosis is confirmed with radiological examination after the termination of pregnancy. Prenatal diagnosis of sirenomelia is difficult due to the presence of kidney agenesis and severe oligohydramnios. The combination of sirenomelia and craniorachischisis totalis is extremely rare and prenatal ultrasound scan are a challenge, even for experts in the field. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

  14. Occurrence and prognostic significance of cytogenetic evolution in patients with multiple myeloma

    Science.gov (United States)

    Binder, M; Rajkumar, S V; Ketterling, R P; Dispenzieri, A; Lacy, M Q; Gertz, M A; Buadi, F K; Hayman, S R; Hwa, Y L; Zeldenrust, S R; Lust, J A; Russell, S J; Leung, N; Kapoor, P; Go, R S; Gonsalves, W I; Kyle, R A; Kumar, S K

    2016-01-01

    Cytogenetic evaluation at the time of diagnosis is essential for risk stratification in multiple myeloma, however little is known about the occurrence and prognostic significance of cytogenetic evolution during follow-up. We studied 989 patients with multiple myeloma, including 304 patients with at least two cytogenetic evaluations. Multivariable-adjusted regression models were used to assess the associations between the parameters of interest and cytogenetic evolution as well as overall survival. The prognostic significance of baseline cytogenetic abnormalities was most pronounced at the time of diagnosis and attenuated over time. In the patients with serial cytogenetic evaluations, the presence of t(11;14) at the time of diagnosis was associated with decreased odds of cytogenetic evolution during follow-up (odds ratio (OR)=0.22, 95% confidence interval (CI)=0.09–0.56, P=0.001), while the presence of at least one trisomy or tetrasomy was associated with increased odds (OR=2.96, 95% CI=1.37–6.42, P=0.006). The development of additional abnormalities during the 3 years following diagnosis was associated with increased subsequent mortality (hazard ratio=3.31, 95% CI=1.73–6.30, P<0.001). These findings emphasize the importance of the underlying clonal disease process for risk assessment and suggest that selected patients may benefit from repeated risk stratification. PMID:26967818

  15. Tumor disease and associated congenital abnormalities on prenatal MRI

    International Nuclear Information System (INIS)

    Nemec, Stefan F.; Horcher, Ernst; Kasprian, Gregor; Brugger, Peter C.; Bettelheim, Dieter; Amann, Gabriele; Nemec, Ursula; Rotmensch, Siegfried; Rimoin, David L.; Graham, John M. Jr.; Prayer, Daniela

    2012-01-01

    Objective: Fetal tumors can have a devastating effect on the fetus, and may occur in association with congenital malformations. In view of the increasing role of fetal magnetic resonance imaging (MRI) as an adjunct to prenatal ultrasonography (US), we sought to demonstrate the visualization of fetal tumors, with regard to congenital abnormalities, on MRI. Materials and methods: This retrospective study included 18 fetuses with tumors depicted on fetal MRI after suspicious US findings. An MRI standard protocol was used to diagnose tumors judged as benign or malignant. All organ systems were assessed for tumor-related complications and other congenital malformations. Available US results and histopathology were compared with MRI. Results: There were 13/18 (72.2%) benign and 5/18 (27.8%) malignant tumors diagnosed: a cerebral primitive neuroectodermal tumor in 1/18, head–neck teratomas in 4/18; ventricular rhabdomyomas in 4/18; a cardiac teratoma in 1/18; a hepatoblastoma in 1/18; neuroblastomas in 2/18; a cystic hemorrhagic adrenal hyperplasia in 1/18; a pelvic leiomyoma in 1/18; sacrococcygeal teratomas in 3/18. Tumor-related complications were present in 13/18 (72.2%) cases; other congenital abnormalities in 3/18 (16.7%). MRI diagnosis and histology were concordant in 8/11 (72.7%) cases. In 6/12 (50%) cases, US and MRI diagnoses were concordant, and, in 6/12 (50%) cases, additional MRI findings changed the US diagnosis. Conclusion: Our MRI results demonstrate the visualization of fetal tumors, with frequently encountered tumor-related complications, and other exceptional congenital abnormalities, which may provide important information for perinatal management. Compared to prenatal US, MRI may add important findings in certain cases.

  16. Tumor disease and associated congenital abnormalities on prenatal MRI.

    Science.gov (United States)

    Nemec, Stefan F; Horcher, Ernst; Kasprian, Gregor; Brugger, Peter C; Bettelheim, Dieter; Amann, Gabriele; Nemec, Ursula; Rotmensch, Siegfried; Rimoin, David L; Graham, John M; Prayer, Daniela

    2012-02-01

    Fetal tumors can have a devastating effect on the fetus, and may occur in association with congenital malformations. In view of the increasing role of fetal magnetic resonance imaging (MRI) as an adjunct to prenatal ultrasonography (US), we sought to demonstrate the visualization of fetal tumors, with regard to congenital abnormalities, on MRI. This retrospective study included 18 fetuses with tumors depicted on fetal MRI after suspicious US findings. An MRI standard protocol was used to diagnose tumors judged as benign or malignant. All organ systems were assessed for tumor-related complications and other congenital malformations. Available US results and histopathology were compared with MRI. There were 13/18 (72.2%) benign and 5/18 (27.8%) malignant tumors diagnosed: a cerebral primitive neuroectodermal tumor in 1/18, head-neck teratomas in 4/18; ventricular rhabdomyomas in 4/18; a cardiac teratoma in 1/18; a hepatoblastoma in 1/18; neuroblastomas in 2/18; a cystic hemorrhagic adrenal hyperplasia in 1/18; a pelvic leiomyoma in 1/18; sacrococcygeal teratomas in 3/18. Tumor-related complications were present in 13/18 (72.2%) cases; other congenital abnormalities in 3/18 (16.7%). MRI diagnosis and histology were concordant in 8/11 (72.7%) cases. In 6/12 (50%) cases, US and MRI diagnoses were concordant, and, in 6/12 (50%) cases, additional MRI findings changed the US diagnosis. Our MRI results demonstrate the visualization of fetal tumors, with frequently encountered tumor-related complications, and other exceptional congenital abnormalities, which may provide important information for perinatal management. Compared to prenatal US, MRI may add important findings in certain cases. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  17. Effects after prenatal radiation exposures

    International Nuclear Information System (INIS)

    Streffer, C.

    2001-01-01

    The mammalian organism is highly radiosensitive during all prenatal developmental periods. For most effects a dose relationship with a threshold is observed. These threshold doses are generally above the exposures from medical diagnostic procedures. The quality and extent of radiation effects are very much dependent on the developmental stage during which an exposure takes place and on the radiation dose. An exposure during the preimplantation period will cause lethality. Malformations are usually induced after exposures during the major organogenesis. Growth retardation is also possible during the late organogenesis and foetal periods. The lower limits of threshold doses for these effects are in the range of 100 mGy. A radiation exposure during the early foetal period can lead to severe mental retardation and impairment of intelligence. There are very serious effects with radiation doses above 0.3 Gy. Carcinogenesis can apparently occur after radiation exposures during the total prenatal development period. The radiation risk factor up to now has not been clear, but it seems that it is in the range of risk factors for cancer that are observed after exposures during childhood. For radiation doses that are used in radiological diagnostics the risk is zero or very low. A termination of pregnancy after doses below 100 mGy should not be considered. (author)

  18. Opportunities and challenges in prenatal diagnosis : towards personalized fetal genetics

    NARCIS (Netherlands)

    Lichtenbelt, K.D.

    2013-01-01

    In this thesis we studied the efficacy and utilization of prenatal screening and prenatal diagnosis in the Netherlands and the increasing options for prenatal genetic diagnosis in general. In chapter 1 background information on prenatal screening and diagnosis in pregnancies conceived through

  19. Cytogenetic analysis for radiation dose assessment. A manual

    International Nuclear Information System (INIS)

    2001-01-01

    Chromosome aberration analysis is recognized as a valuable dose assessment method which fills a gap in dosimetric technology, particularly when there are difficulties in interpreting the data, in cases where there is reason to believe that persons not wearing dosimeters have been exposed to radiation, in cases of claims for compensation for radiation injuries that are not supported by unequivocal dosimetric evidence, or in cases of exposure over an individual's working lifetime. The IAEA has maintained a long standing involvement in biological dosimetry commencing in 1978. This has been via a sequence of Co-ordinated Research Programmes (CRPs), the running of Regional Training Courses, the sponsorship of individual training fellowships and the provision of necessary equipment to laboratories in developing Member States. The CRP on the 'Use of Chromosome Aberration Analysis in Radiation Protection' was initiated by IAEA in 1982. It ended with the publication of the IAEA Technical Report Series No. 260, titled 'Biological Dosimetry: Chromosomal Aberration Analysis for Dose Assessment' in 1986. The overall objective of the CRP (1998-2000) on 'Radiation Dosimetry through Biological Indicators' is to review and standardize the available methods and amend the above mentioned previous IAEA publication with current techniques on cytogenetic bioindicators which may be of practical use in biological dosimetry worldwide. An additional objective is to identify promising cytogenetic techniques to provide Member States with up to date and generally agreed advice regarding the best focus for research and suggestions for the most suitable techniques for near future practice in biodosimetry. This activity is in accordance with the International Basic Safety Standards (BSS) published in 1996. To pursue this task the IAEA has conducted a Research Co-ordination Meeting (Budapest, Hungary, June 1998) with the participation of senior scientists of 24 biodosimetry laboratories to discuss

  20. Cytogenetic Monitoring of Mammals of Semipalatinsk Test Site

    International Nuclear Information System (INIS)

    Zhapbasov, R.Zh.; Tusupbaev, V.I.; Karimbaeva, K.S.; Seisebaev, A.T.; Nurgalieva, K.G.; Chenal, C.

    1998-01-01

    The cytogenetic monitoring of the natural populations of mammals living under conditions of environment radioactive contamination is the simplest method to study the genetic consequences of nuclear tests. This work presents the preliminary results of the cytogenetic monitoring of the natural populations of rodents (Allactaga maior Kerr., Allactaga saltafor Eversm., Citellus erytrogenus Brandt) and domestic sheep (Ovis aries). The exposure of gonads is considered to be the most hazardous among the consequences of the chronic ionizing exposure since the exposure of gonads can cause not only somatic damages but also hereditary ones transferring to the farther generations, The genetic damage assessment of rodent reproductive cells was performed using the morphological test for abnormal form of the sperm head. It is generally accepted, that spermatogenesis disorders, which result in abnormal spermatozoa, are bound to the genetic disturbances during mitotic and meiotic division stages of male sex cells. The analysis of data obtained shows that the rodent males living on the radioactive contaminated sites (Balapan, Degelen) have the higher numbers of abnormal spermatozoa. So, the Allactaga maior taken from the sites with the gamma background of 250 μr/h showed the frequency of abnormal spermatozoa within 48.27 - 62.73 %. This value for the control animals from the gamma background of 11 - 16 μr/h did not exceed 5.8 %. The most objective and sensitive method for assessment of environmental contamination genetic consequences for the natural populations is to determine the damages of the cell genetic apparatus, e. g. the frequency of the visible changes in chromosome number and structure. The cytogenetic study of animals showed that the significant number of marrow cells of rodents and sheep living on the technical fields of the Test Site are the metaphase cells with polyploid (0.98 - 3.50 %) and aneuploidy (11.03 -19.72 %) chromosomal sets. There were also found the

  1. Cytogenetic Nomenclature: Changes in the ISCN 2013 Compared to the 2009 Edition.

    Science.gov (United States)

    Simons, A; Shaffer, L G; Hastings, R J

    2013-01-01

    The latest edition of the International System for Human Cytogenetic Nomenclature, ISCN 2013, has recently been published following a thorough revision of the 2009 issue and the incorporation of suggestions from the community by the current standing committee. This review will highlight the multiple nomenclature changes in the respective chapters of the 2013 version compared to the previous version of the ISCN published in 2009. These highlights are meant as a guide for the cytogeneticist to assist in the transition in the use of this updated nomenclature for describing cytogenetic and molecular cytogenetic findings in both clinical and research reports.

  2. Diagnosing plant problems

    Science.gov (United States)

    Cheryl A. Smith

    2008-01-01

    Diagnosing Christmas tree problems can be a challenge, requiring a basic knowledge of plant culture and physiology, the effect of environmental influences on plant health, and the ability to identify the possible causes of plant problems. Developing a solution or remedy to the problem depends on a proper diagnosis, a process that requires recognition of a problem and...

  3. Prenatal sonographic measurement of the fetal thyroid gland

    Energy Technology Data Exchange (ETDEWEB)

    Ahn, Young Cheol; Kim, Young Hwa; Cho, Won Soo; Bae, Won Kyung; Kim, Il Young [Chunan Hospital, Soonchunhyang University College of Medicine, Chunan (Korea, Republic of)

    2001-03-15

    To investigate whether the fetal thyroid gland could be examined by prenatal ultrasonography and to established the normal range of fetal thyroid width according to the gestational age. The width of the fetal thyroid was determined by prenatal ultrasonography from 118 pregnant women. Three of the mothers had current or previous thyroid disease and the widths of the fetal thyroid were determined from 115 normal subjects. The width of the fetal thyroid was defined by a maximum transverse distance of the thyroid gland between two carotid arteries on transverse scan of the fetal neck. We analyzed the cause of non-measurable cases. The width of the fetal thyroid and Neo-TSH were compared in 19 subjects, including 3 subjects will current or previous thyroid disease. We could measure the fetal thyroid widths in 95 cases (80%). The fetal thyroid widths of mothers without current or previous thyroid disease was 0.9-2.36 cm,which showed linear correlation with gestational age (Y=0.0506 X + 0.0439, r{sup 2}=0.5661). Causes of non-measurable cases were neck flexion (65%), prone position (22%), and overlapped fetal neck by arm or shoulder (13%). Of the 19 neonates with Neo-TSH level, one case had a mother with a thyroid disease and showed increased width of the fetal and high Neo-TSH. The fetal thyroid was measured in 80% of prenatal ultrasonography and the width of the fetal thyroid showed linear correlated with gestational age. We assumed that the width of the thyroid could be useful for diagnosing fetal thyroid disorder when maternal thyroid disease exists.

  4. Prenatal sonographic measurement of the fetal thyroid gland

    International Nuclear Information System (INIS)

    Ahn, Young Cheol; Kim, Young Hwa; Cho, Won Soo; Bae, Won Kyung; Kim, Il Young

    2001-01-01

    To investigate whether the fetal thyroid gland could be examined by prenatal ultrasonography and to established the normal range of fetal thyroid width according to the gestational age. The width of the fetal thyroid was determined by prenatal ultrasonography from 118 pregnant women. Three of the mothers had current or previous thyroid disease and the widths of the fetal thyroid were determined from 115 normal subjects. The width of the fetal thyroid was defined by a maximum transverse distance of the thyroid gland between two carotid arteries on transverse scan of the fetal neck. We analyzed the cause of non-measurable cases. The width of the fetal thyroid and Neo-TSH were compared in 19 subjects, including 3 subjects will current or previous thyroid disease. We could measure the fetal thyroid widths in 95 cases (80%). The fetal thyroid widths of mothers without current or previous thyroid disease was 0.9-2.36 cm,which showed linear correlation with gestational age (Y=0.0506 X + 0.0439, r 2 =0.5661). Causes of non-measurable cases were neck flexion (65%), prone position (22%), and overlapped fetal neck by arm or shoulder (13%). Of the 19 neonates with Neo-TSH level, one case had a mother with a thyroid disease and showed increased width of the fetal and high Neo-TSH. The fetal thyroid was measured in 80% of prenatal ultrasonography and the width of the fetal thyroid showed linear correlated with gestational age. We assumed that the width of the thyroid could be useful for diagnosing fetal thyroid disorder when maternal thyroid disease exists.

  5. Prenatal x-ray exposure and childhood cancer in twins

    International Nuclear Information System (INIS)

    Harvey, E.B.; Boice, J.D. Jr.; Honeyman, M.; Flannery, J.T.

    1985-01-01

    A case-control study was conducted to investigate the relation between prenatal exposure to x-rays and childhood cancer, including leukemia, in over 32,000 twins born in Connecticut from 1930 to 1969. Twins as opposed to single births were chosen for study to reduce the likelihood of medical selection bias, since twins were often exposed to x-rays to diagnose the twin pregnancy or to determine fetal positioning before delivery and not because of medical conditions that may conceivably pre-dispose to cancer. Each of 31 incident cases of cancer, identified by linking the Connecticut twin and tumor registries, was matched with four twin controls according to sex, year of birth, and race. Records of hospitals, radiologists, and private physicians were searched for histories of x-ray exposure and other potentially important risk factors. Documented prenatal x-ray exposures were found for 39 per cent of the cases (12 of 31) and for 26 per cent of the controls (28 of 109). No other pregnancy, delivery, or maternal conditions were associated with cancer risk except low birth weight: 38 per cent of the cases as compared with 25 per cent of the controls weighed under 2.27 kg at birth. When birth weight was adjusted for, twins in whom leukemia or other childhood cancer developed were twice as likely to have been exposed to x-rays in utero as twins who were free of disease (relative risk, 2.4; 95 per cent confidence interval, 1.0 to 5.9). The results, though based on small numbers, provide further evidence that low-dose prenatal irradiation may increase the risk of childhood cancer

  6. Cytogenetic, clinical, and cytologic characteristics of radiotherapy-related leukemias

    International Nuclear Information System (INIS)

    Philip, P.; Pedersen-Bjergaard, J.

    1988-01-01

    From 1978 to 1985, we observed eight cases of acute nonlymphocytic leukemia or preleukemia, three cases of acute lymphoblastic leukemia, and three cases of chronic myeloid leukemia in patients previously treated exclusively with radiotherapy for other tumor types. The latent period from administration of radiotherapy to development of leukemia varied between 12 and 243 months. Clonal chromosome aberrations reported previously as characteristic of acute nonlymphocytic leukemia following therapy with alkylating agents were observed in three of the eight patients with acute nonlymphocytic leukemia (5q- and -7) and in two of the three patients with acute lymphoblastic leukemia (-7 and 12p-). All three patients with radiotherapy-related chronic myeloid leukemia presented a t(9;22)(q34;q11). The results suggest that cytogenetic characteristics may reflect the etiology in radiation-induced acute leukemias, whereas radiation-related chronic myeloid leukemia does not seem to differ chromosomally from de novo cases of the disease

  7. Cytogenetic investigation of subjects professionally exposed to radiofrequency radiation.

    Science.gov (United States)

    Maes, Annemarie; Van Gorp, Urbain; Verschaeve, Luc

    2006-03-01

    Nowadays, virtually everybody is exposed to radiofrequency radiation (RFR) from mobile phone base station antennas or other sources. At least according to some scientists, this exposure can have detrimental health effects. We investigated cytogenetic effects in peripheral blood lymphocytes from subjects who were professionally exposed to mobile phone electromagnetic fields in an attempt to demonstrate possible RFR-induced genetic effects. These subjects can be considered well suited for this purpose as their RFR exposure is 'normal' though rather high, and definitely higher than that of the 'general population'. The alkaline comet assay, sister chromatid exchange (SCE) and chromosome aberration tests revealed no evidence of RFR-induced genetic effects. Blood cells were also exposed to the well known chemical mutagen mitomycin C in order to investigate possible combined effects of RFR and the chemical. No cooperative action was found between the electromagnetic field exposure and the mutagen using either the comet assay or SCE test.

  8. Micropropagation and cytogenetic assessment of Zingiber species of Northeast India.

    Science.gov (United States)

    Das, Archana; Kesari, Vigya; Rangan, Latha

    2013-12-01

    An improved micropropagation protocol was developed for Zingiber moran and Z. zerumbet, two wild species of the genus Zingiber, found in Northeast India. The effects of growth regulators, sugar concentrations, and nutrients were tested on the rate of shoot initiation and multiplication. An increase in proliferation and multiplication occurred in modified Murashige and Skoog (MS) medium supplemented with benzyladenine and kinetin. About 2 % sucrose and 0.7 % agar were found to be the optimum for shoot multiplication and regeneration. Naphthalene acetic acid at 0.5 mg/L produced the best rooting response for both the species. Regenerated plantlets were acclimatized successfully and cytogenetic stability was confirmed by RAPD profiling and ploidy checks.

  9. Plant genotoxicity: a molecular cytogenetic approach in plant bioassays.

    Science.gov (United States)

    Maluszynska, Jolanta; Juchimiuk, Jolanta

    2005-06-01

    It is important for the prevention of DNA changes caused by environment to understand the biological consequences of DNA damages and their molecular modes of action that lead to repair or alterations of the genetic material. Numerous genotoxicity assay systems have been developed to identify DNA reactive compounds. The available data show that plant bioassays are important tests in the detection of genotoxic contamination in the environment and the establishment of controlling systems. Plant system can detect a wide range of genetic damage, including gene mutations and chromosome aberrations. Recently introduced molecular cytogenetic methods allow analysis of genotoxicity, both at the chromosomal and DNA level. FISH gives a new possibility of the detection and analysis of chromosomal rearrangements in a great detail. DNA fragmentation can be estimated using the TUNEL test and the single cell gel electrophoresis (Comet assay).

  10. Cytogenetic analysis of mammals from ecologically unfavourable regions of Kazakhstan

    International Nuclear Information System (INIS)

    Zhapbasov, R.; Sejsebaev, A.T.

    2000-01-01

    Cytogenetic monitoring of mammals' natural population living in unfavorable regions of Kazakhstan were carried out. With this purpose level of chromosomal aberration and genome mutation different species of mammals were studied in comparative aspect. It was revealed reliable increase of chromosomal disturbances and genome mutation in rodents' somatic cells living in Semipalatinsk test site. Genome instabilities common level for different age sheep keeping on pasture areas of the Semipalatinsk site with different rate of radiation contamination in 2-3 times exceeds indexes of animals from other regions of the Republic. Same chromosomal disturbances in bone marrow cells were established with sheep breeding in Atyrau oblast. In bone marrow of 2-3 year-age of sheep there are 3.61 % cells with chromosomal aberration, 2.96 % cells with hyperploid chromosomes set and 3.28 % with polyploid chromosome set

  11. Cytogenetic characterization of Partamona cupira (Hymenoptera, Apidae by fluorochromes

    Directory of Open Access Journals (Sweden)

    Jefferson de Brito Marthe

    2010-01-01

    Full Text Available Four colonies of the stingless bee Partamona cupira (Hymenoptera: Apidae were cytogenetically analyzed using conventional staining and the fluorochromes CMA3 e DAPI. The females have 2n = 34 chromosomes (2K=32+2. Some females, however, presented an additional large B acrocentric chromosome, to a total of 2n = 35. Chromosome B and the chromosomal pairs 2, 9 and 10 showed CMA3+ bands, indicating an excess of CG base-pairs. A clear association was verified between the P. helleri B chromosome SCAR marker and the presence of a B chromosome in P. cupira. The data obtained suggests that B chromosomes in P. helleri and P. cupira share a common origin.

  12. Cytogenetic evaluation of chromosomal disorders in Down Syndrome

    International Nuclear Information System (INIS)

    Shafik, H.M.

    1987-01-01

    Down Syndrome (DS) patients are at high risk to develop leukemia. They are also highly sensitive to the induction of chromosomal aberrations when their GO lymphocytes are irradiated in vitro. The objective of this study was to further investigate the differential radiosensitivity of DS lymphocytes at the different stages of the cell cycle, as damage to proliferating cells is more relevant to health problems than damage to non-dividing cells. In addition, the proliferation kinetics and stage of differentiation of circulating DS lymphocytes was studied in an attempt to understand the mechanism for the enhanced chromosomal radiosensitivity. Moreover, the x-ray induced specific chromosomal breakpoints were identified and correlated with the locations of oncogene and fragile sites in order to investigate cytogenetically the early stages of leukemogenesis

  13. Karyotype Learning Center: A Software For Teaching And Learning Cytogenetics

    Directory of Open Access Journals (Sweden)

    Joelma Freire De Mesquita

    2004-05-01

    Full Text Available The in vitro cultivation of human cells is an essential part of the work of every diagnostic cytoge-netics laboratory. Almost all human cytogenetic studies involve the examination of dividing bloodcell population by blocking cell division at metaphase with subsequent processing and staining bybanding techniques. The chromosome constitution is described as Karyotype that states the totalnumber of chromosomes and the sex chromosome constitution. Karyotypes are prepared by cuttingup a photograph of the spread metaphase chromosomes, matching up homologous chromosomes andsticking them back down on a card or nowadays more often by getting an image analysis computerto do the job. Chromosomes are identied by their size, centromere position and banding pattern.Teaching a student how to detect and interpret even the most common chromosome abnormaliti-es is a major challenge: mainly, in a developing country where the laboratorial facilities are notalways available for a big number of students. Therefore, in this work we present an educationalsoftware for teaching undergraduate students of Medical and Life Sciences Courses how to arrangenormal and abnormal chromosomes in the form of karyotype. The user, using drag-and-drop, is da-red to match up homologous chromosome. For that, we have developed a free full access web site(http://www.biomol.net/cariotipo/ for hosting the software. The latter has proved to be light andfast even under slow dial-up connections. This web site also oers a theoretical introductory sectionwith basic concepts about karyotype. Up to now the software has been successfully applied to un-dergraduate courses at the University of Rio de Janeiro (UNIRIO. The students have approved thesoftware; to them the similarities with the well-known game solitaire turns the exercise more excitingand provides additional stimulus to learn and understand karyotype. Professors have also used thesoftware as complementary material in their regular classes

  14. Shortening of culture time in conventional cytogenetic dosimetry

    International Nuclear Information System (INIS)

    Lamadrid, Ana I.; Gonzalez, Jorge E.; Romero, Ivonne; Garcia, Omar; Roy, Laurence

    2008-01-01

    Conventional cytogenetic dosimetry based on chromosome aberration in metaphases is a 'gold standard' of bio-dosimetry techniques for radiation dose assessment. This method is laborious and time consuming, the culturing process requires about 48 hours to obtain a satisfactory number of lymphocytes in mitosis. The current approach to reduce the dose estimation time by cytogenetic dosimetry is the preliminary estimation of dose counting only 50 metaphases. Another possibility is to reduce the culture time. The possibility of reduce the culture time under 48 hours adding Calyculin A has been suggested recently. In the present study we tested shorter times using Calyculin A and considering the G2/M-PCC index as culture quality indicator. Peripheral blood from healthy individuals was irradiated and then maintained at 37 C degrees for 2 hours allowing to act the cellular reparation mechanisms, lymphocytes were culture in RPMI 1640 supplemented with foetal calf serum and phytohemagglutinin. Colcemid was added 24 hours after cultures started and Calyculin A was added for the last hour. The cells were collected by centrifugation between 30 to 48 hours. The cells were treated with a hypotonic solution and the fixed cells dropped onto slides. The slides were stained with Giemsa. The incidence of metaphases with chromosomes well defined was scored. Two operators participated to the scoring according the same criteria. The results were analyzed to comparing the G2/M-PCC index relatives to achieve the shortest culture duration. The culture time reduction to 40 hours gives enough G2/M-PCC cells for dose estimation analysis. Lower culture times produced very low G2/M-PCC index. (author)

  15. Cytogenetic biodosimetry using the blood lymphocytes of astronauts

    Science.gov (United States)

    George, Kerry A.; Rhone, Jordan; Chappell, Lori J.; Cucinotta, Francis A.

    2013-11-01

    Cytogenetic analysis of peripheral blood lymphocytes is the most sensitive and reliable method currently available for in vivo assessment of the biological effects of exposure to radiation and provides the most informative measurement of radiation induced health risks. Data indicates that space missions of a few months or more can induce measureable increases in the yield of chromosome damage in the blood lymphocytes of astronauts that can be used to estimate an organ dose equivalent, and biodosimetry estimates lie within the range expected from physical dosimetry. Space biodosimetry poses some unique challenges compared to terrestrial biological assessments of radiation exposures, but data provides a direct measurement of space radiation damage, which takes into account individual radiosensitivity in the presence of confounding factors such as microgravity and other stress conditions. Moreover if chromosome damage persists in the blood for many years, results can be used for retrospective dose reconstruction. In contrast to physical measurements, which are external to body and require multiple devices to detect all radiation types all of which have poor sensitivity to neutrons, biodosimetry is internal and includes the effects of shielding provided by the body itself plus chromosome damage shows excellent sensitivity to protons, heavy ions, and neutrons. In addition, chromosome damage is reflective of cancer risk and biodosimetry values can therefore be used to validate and develop risk assessment models that can be used to characterize health risk incurred by crewmembers. The current paper presents a review of astronaut biodosimetry data, along with recently derived data on the relative cancer risk estimated using the quantitative approach derived from the European Study Group on Cytogenetic Biomarkers and Health database.

  16. Discrepancy of cytogenetic analysis in Western and eastern Taiwan.

    Science.gov (United States)

    Chang, Yu-Hsun; Chen, Pui-Yi; Li, Tzu-Ying; Yeh, Chung-Nan; Li, Yi-Shian; Chu, Shao-Yin; Lee, Ming-Liang

    2013-06-01

    This study aimed at investigating the results of second-trimester amniocyte karyotyping in western and eastern Taiwan, and identifying any regional differences in the prevalence of fetal chromosomal anomalies. From 2004 to 2009, pregnant women who underwent amniocentesis in their second trimester at three hospitals in western Taiwan and at four hospitals in eastern Taiwan were included. All the cytogenetic analyses of cultured amniocytes were performed in the cytogenetics laboratory of the Genetic Counseling Center of Hualien Buddhist Tzu Chi General Hospital. We used the chi-square test, Student t test, and Mann-Whitney U test to evaluate the variants of clinical indications, amniocyte karyotyping results, and prevalence and types of chromosomal anomalies in western and eastern Taiwan. During the study period, 3573 samples, 1990 (55.7%) from western Taiwan and 1583 (44.3%) from eastern Taiwan, were collected and analyzed. The main indication for amniocyte karyotyping was advanced maternal age (69.0% in western Taiwan, 67.1% in eastern Taiwan). The detection rates of chromosomal anomalies by amniocyte karyotyping in eastern Taiwan (45/1582, 2.8%) did not differ significantly from that in western Taiwan (42/1989, 2.1%) (p = 1.58). Mothers who had abnormal ultrasound findings and histories of familial hereditary diseases or chromosomal anomalies had higher detection rates of chromosomal anomalies (9.3% and 7.2%, respectively). The detection rate of autosomal anomalies was higher in eastern Taiwan (93.3% vs. 78.6%, p = 0.046), but the detection rate of sex-linked chromosomal anomalies was higher in western Taiwan (21.4% vs. 6.7%, p = 0.046). We demonstrated regional differences in second-trimester amniocyte karyotyping results and established a database of common chromosomal anomalies that could be useful for genetic counseling, especially in eastern Taiwan. Copyright © 2012. Published by Elsevier B.V.

  17. MicroRNA Expression Profile in the Prenatal Amniotic Fluid Samples of Pregnant Women with Down Syndrome.

    Science.gov (United States)

    Karaca, Emin; Aykut, Ayça; Ertürk, Biray; Durmaz, Burak; Güler, Ahmet; Büke, Barış; Yeniel, Ahmet Özgür; Ergenoğlu, Ahmet Mete; Özkınay, Ferda; Özeren, Mehmet; Kazandı, Mert; Akercan, Fuat; Sağol, Sermet; Gündüz, Cumhur; Çoğulu, Özgür

    2018-03-15

    Down syndrome, which is the most common human chromosomal anomaly that can affect people of any race and age, can be diagnosed prenatally in most cases. Prenatal diagnosis via culture method is time-consuming; thus, genetic analysis has thus been introduced and is continually being developed for rapid prenatal diagnosis. For this reason, the effective use of microRNA profiling for the rapid analysis of prenatal amniotic fluid samples for the diagnosis of Down syndrome was investigated. To evaluate the expression levels of 14 microRNAs encoded by chromosome 21 in amniotic fluid samples and their utility for prenatal diagnosis of Down syndrome. Case-control study. We performed invasive prenatal testing for 56 pregnant women; 23 carried fetuses with Down syndrome, and 33 carried fetuses with a normal karyotype. Advanced maternal age and increased risk for Down syndrome in the screening tests were indications for invasive prenatal testing. The age of gestation in the study and control groups ranged between 17 and 18 weeks. The expression levels of microRNA were measured by real-time polymerase chain reaction. The expression levels of microRNA-125b-2, microRNA-155 , and microRNA-3156 were significantly higher in the study group than in the control group. The presence of significantly dysregulated microRNAs may be associated with either the phenotype or the result of abnormal development. Further large-scale comparative studies conducted in a variety of conditions may bring novel insights in the field of abnormal prenatal conditions.

  18. Facial Curvature Detects and Explicates Ethnic Differences in Effects of Prenatal Alcohol Exposure.

    Science.gov (United States)

    Suttie, Michael; Wetherill, Leah; Jacobson, Sandra W; Jacobson, Joseph L; Hoyme, H Eugene; Sowell, Elizabeth R; Coles, Claire; Wozniak, Jeffrey R; Riley, Edward P; Jones, Kenneth L; Foroud, Tatiana; Hammond, Peter

    2017-08-01

    Our objective is to help clinicians detect the facial effects of prenatal alcohol exposure by developing computer-based tools for screening facial form. All 415 individuals considered were evaluated by expert dysmorphologists and categorized as (i) healthy control (HC), (ii) fetal alcohol syndrome (FAS), or (iii) heavily prenatally alcohol exposed (HE) but not clinically diagnosable as FAS; 3D facial photographs were used to build models of facial form to support discrimination studies. Surface curvature-based delineations of facial form were introduced. (i) Facial growth in FAS, HE, and control subgroups is similar in both cohorts. (ii) Cohort consistency of agreement between clinical diagnosis and HC-FAS facial form classification is lower for midline facial regions and higher for nonmidline regions. (iii) Specific HC-FAS differences within and between the cohorts include: for HC, a smoother philtrum in Cape Coloured individuals; for FAS, a smoother philtrum in Caucasians; for control-FAS philtrum difference, greater homogeneity in Caucasians; for control-FAS face difference, greater homogeneity in Cape Coloured individuals. (iv) Curvature changes in facial profile induced by prenatal alcohol exposure are more homogeneous and greater in Cape Coloureds than in Caucasians. (v) The Caucasian HE subset divides into clusters with control-like and FAS-like facial dysmorphism. The Cape Coloured HE subset is similarly divided for nonmidline facial regions but not clearly for midline structures. (vi) The Cape Coloured HE subset with control-like facial dysmorphism shows orbital hypertelorism. Facial curvature assists the recognition of the effects of prenatal alcohol exposure and helps explain why different facial regions result in inconsistent control-FAS discrimination rates in disparate ethnic groups. Heavy prenatal alcohol exposure can give rise to orbital hypertelorism, supporting a long-standing suggestion that prenatal alcohol exposure at a particular time causes

  19. Opioid Addiction in Pregnancy: Does Depression Negatively Impact Adherence With Prenatal Care?

    Science.gov (United States)

    Hensley, Lauren; Sulo, Suela; Kozmic, Sarah; Parilla, Barbara V

    We aimed to evaluate whether depression in pregnancy in women with opioid dependency negatively impacts adherence with prenatal care. This was a retrospective chart analysis of opioid-dependent pregnant women over a 6-year period at 2 large referral and tertiary care centers. The primary outcome was adherence with prenatal care based on the concurrent diagnosis of depression. Adherence was assessed by looking at the number of observed versus expected prenatal visits. Secondary outcomes included neonatal intensive care unit (NICU) stay, and incidence and severity of neonatal abstinence syndrome (NAS). A total of 74 patient charts were reviewed. 45/74 (60.8%) of the opioid-dependent pregnant patients were either diagnosed with depression (n = 41), anxiety (n = 2), or scored >10 on the Edinburgh Prenatal Depression Scale (n = 1). Patients with a diagnosis of depression were significantly less adherent with prenatal care; 80% adherent (73% vs 93%; P = 0.03), 90% adherent (62% vs 93%; P = 0.003). A higher number of patients in the depression group had an infant treated for withdrawal (62% vs 38%; P = 0.041), and had longer NICU stays (27% vs 21%; P = 0.018). Analysis of the whole cohort of opioid dependent gravidas revealed Buprenorphine maintenance therapy had the lowest mean NAS score 6.5 ± 4.4, compared with methadone maintenance 10.6 ± 3.6, and no maintenance therapy 9.4 ± 4.0 (P = 0.008). Depression negatively impacts adherence with prenatal care and was significantly associated with a higher incidence of neonatal withdrawal and longer NICU stays. Buprenorphine therapy had the lowest incidence and severity of NAS when compared with methadone and no maintenance therapy.

  20. Liability for Diagnosing Malingering.

    Science.gov (United States)

    Weiss, Kenneth J; Van Dell, Landon

    2017-09-01

    Malingering is a medical diagnosis, but not a psychiatric disorder. The label imputes that an evaluee has intentionally engaged in false behavior or statements. By diagnosing malingering, psychiatrists pass judgment on truthfulness. Evaluees taking exception to the label may claim that the professional has committed defamation of character (libel or slander) when the diagnosis is wrong and costs the claimant money or benefits. Clinicians may counter by claiming immunity or that the diagnosis was made in good faith. This problem has come into focus in military and veterans' contexts, where diagnoses become thresholds for benefits. Through historical and literary examples, case law, and military/veterans' claims of disability and entitlement, the authors examine the potency of the malingering label and the potential liability for professionals and institutions of making this diagnosis. © 2017 American Academy of Psychiatry and the Law.

  1. Prenatal diagnosis and prognosis of triple X syndrome: 47, XXX.

    Science.gov (United States)

    Ben Hamouda, H; Mkacher, N; Elghezal, H; Bannour, H; Kamoun, M; Soua, H; Saad, A; Souissi, M M; Sfar, M T

    2009-11-01

    Triple X syndrome is a relatively common sex chromosomal abnormality occurring in 0,1% of live-born female infants. Most of these infants have a normal phenotype and only a few cases with 47, XXX karyotype have congenital malformations. We report three cases of triple X syndrome that were diagnosed prenatally by genetic amniocentesis for advanced maternal age and have been observed from birth to age of 3 to 12 years. A description of their growth and development is presented. The birth weight was normal in all patients and one of them had facial dysmorphism with right microphtalmia and auricular septal defect. During the first 2 years of life, the neuromotor development of these infants was not distinguishable from chromosomally normal children. By 3 years of age, two patients have a moderate developmental delay in speech and language. One girl 12-year-old had normal schooling. The diagnosis of the triple X syndrome can be never made because clinical demonstrations are not rather important to arouse the demand of a karyotype. Prenatal diagnosis is often made in front of the advanced maternal age. Expectant parents must be counseled as to the significance of this 47, XXX karyotype and prognostic information must be given.

  2. Diastrophic dysplasia: prenatal diagnosis and review of the literature

    Directory of Open Access Journals (Sweden)

    Jonathan Celli Honório

    Full Text Available CONTEXT Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene. Abnormalities occurring particularly in the skeletal and cartilaginous system are typical of the disease, which has an incidence of 1 in 100,000 live births. CASE REPORT The case of a pregnant woman, without any consanguineous relationship with her husband, whose fetus was diagnosed with skeletal dysplasia based on ultrasound findings and DNA tests, is described. An obstetric ultrasound scan produced in the 16th week of gestation revealed characteristics that guided the clinical diagnosis. Prominent among these characteristics were rhizomelia of the lower and upper limbs (shortening of the proximal portions and mesomelia (shortening of the intermediate portions. Both upper limbs showed marked curvature, with the first finger of the upper limbs in abduction and clinodactyly of the fifth finger. Molecular analysis using the polymerase chain reaction (PCR and gene sequencing detected mutations that had already been described in the literature for the gene DTDST, named c.862C > T and c.2147_2148insCT. Therefore, the fetus was a compound heterozygote, carrying two different mutations. CONCLUSIONS Prenatal diagnosis of this condition allowed a more realistic interpretation of the prognosis, and of the couple's reproductive future. This case report shows the contribution of molecular genetics towards the prenatal diagnosis, for which there are few descriptions in the literature.

  3. Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone.

    Science.gov (United States)

    Rachid, Myriam; Dreux, Sophie; Pean de Ponfilly, Gauthier; Vargas-Poussou, Rosa; Czerkiewicz, Isabelle; Chevenne, Didier; Oury, Jean-François; Deschênes, Georges; Muller, Françoise

    2017-04-01

    Bartter syndrome is a severe inherited tubulopathy characterized at birth by salt wasting, severe polyuria, dehydration, growth retardation and secondary hyperaldosteronism. Prenatally, the disease is usually discovered following onset of severe polyhydramnios. We studied amniotic fluid aldosterone concentration in cases of Bartter syndrome and in control groups. Amniotic fluid aldosterone was assayed by radioimmunoassay. We undertook a retrospective case-control study based on 36 cases of postnatally diagnosed Bartter syndrome and 144 controls matched for gestational age. Two controls groups were defined: controls with polyhydramnios (n=72) and control without polyhydramnios (n=72). Amniotic fluid aldosterone was compared between the three groups. The median amniotic fluid aldosterone concentration in the Bartter syndrome group (90 pg/mL) did not differ significantly from that in the controls with polyhydramnios (90 pg/mL, p=0.33) or the controls without polyhydramnios (87 pg/mL, p=0.41). In conclusion, amniotic fluid aldosterone assay cannot be used for prenatal diagnosis of Bartter syndrome.

  4. New cytogenetically visible copy number variant in region 8q21.2

    Directory of Open Access Journals (Sweden)

    Ewers Elisabeth

    2011-01-01

    Full Text Available Abstract Background Cytogenetically visible unbalanced chromosomal abnormalities (UBCA, reported for >50 euchromatic regions of almost all human autosomes, are comprised of a few megabases of DNA, and carriers are in many cases clinically healthy. It may be speculated, that some of the UBCA may be similar or identical to copy number variants (CNV of the human genome. Results Here we report on a yet unreported cytogenetically visible copy number variant (CNV in the long arm of chromosome 8, region 8q21.2, detected in three unrelated clinically healthy carriers. Conclusion The first description of a cytogenetically visible CNV/UBCA in 8q21.2 shows that banding cytogenetics is far from being outdated. It is a cost efficient, up-to-date method for a single cell specific overview on the whole genome, still prepared to deliver unexpected findings.

  5. Molecular cytogenetics of cutaneous melanocytic lesions - diagnostic, prognostic and therapeutic aspects.

    NARCIS (Netherlands)

    Blokx, W.A.M.; Dijk, M.C.R.F. van; Ruiter, D.J.

    2010-01-01

    This review intends to update current knowledge regarding molecular cytogenetics in melanocytic tumours with a focus on cutaneous melanocytic lesions. Advantages and limitations of diverse, already established methods, such as (fluorescence) in situ hybridization and mutation analysis, to detect

  6. Molecular cytogenetics of cutaneous melanocytic lesions - diagnostic, prognostic and therapeutic aspects

    NARCIS (Netherlands)

    Blokx, Willeke Am M.; van Dijk, Marcory C. R. F.; Ruiter, Dirk J.

    This review intends to update current knowledge regarding molecular cytogenetics in melanocytic tumours with a focus on cutaneous melanocytic lesions. Advantages and limitations of diverse, already established methods, such as (fluorescence) in situ hybridization and mutation analysis, to detect

  7. Cytogenetic effects of the action of ionizing radiations on human populations

    International Nuclear Information System (INIS)

    Shevchenko, V.A.; Snigiryova, G.P.

    1998-01-01

    The objective of the present work is the analysis of available materials on practical application of the cytogenetic method for dose assessment in people participating in the post-accidental rescue and clean-up operations in Chernobyl (so-called 'liquidators'). These materials will be compared with the results of cytogenetic investigations performed in other regions of Russia exposed to radiation (the village Muslyumovo in the Chelyabinsk region, several localities of the Altai Territory in the vicinity of the Semipalatinsk nuclear test site) as well as with the results of cytogenetic monitoring in the population living around the Three Mile Island (TMI) nuclear power plant (Pennsylvania, USA) where a nuclear accident occurred in 1979. The work presents the results of cytogenetic investigations obtained by the traditional method of analysis of the frequency of unstable chromosome aberrations and by the FISH method based on the frequency of stable chromosome aberrations. (J.P.N.)

  8. Molecular cytogenetic identification of a wheat–Thinopyrum ...

    Indian Academy of Sciences (India)

    FANG HE

    ... have supported the development of several wheat germplasms that are in use ... Li, formerly of the Northwest Institute of Botany, Chinese. Academy of Sciences ... Cytogenetic analysis. Seeds were germinated in Petri dishes maintained at 4.

  9. Review of bayesian statistical analysis methods for cytogenetic radiation biodosimetry, with a practical example

    International Nuclear Information System (INIS)

    Ainsbury, Elizabeth A.; Lloyd, David C.; Rothkamm, Kai; Vinnikov, Volodymyr A.; Maznyk, Nataliya A.; Puig, Pedro; Higueras, Manuel

    2014-01-01

    Classical methods of assessing the uncertainty associated with radiation doses estimated using cytogenetic techniques are now extremely well defined. However, several authors have suggested that a Bayesian approach to uncertainty estimation may be more suitable for cytogenetic data, which are inherently stochastic in nature. The Bayesian analysis framework focuses on identification of probability distributions (for yield of aberrations or estimated dose), which also means that uncertainty is an intrinsic part of the analysis, rather than an 'afterthought'. In this paper Bayesian, as well as some more advanced classical, data analysis methods for radiation cytogenetics are reviewed that have been proposed in the literature. A practical overview of Bayesian cytogenetic dose estimation is also presented, with worked examples from the literature. (authors)

  10. Prenatal stress, prematurity and asthma

    Science.gov (United States)

    Medsker, Brock; Forno, Erick; Simhan, Hyagriv; Celedón, Juan C.

    2016-01-01

    Asthma is the most common chronic disease of childhood, affecting millions of children in the U.S. and worldwide. Prematurity is a risk factor for asthma, and certain ethnic or racial minorities such as Puerto Ricans and non-Hispanic Blacks are disproportionately affected by both prematurity and asthma. In this review, we examine current evidence to support maternal psychosocial stress as a putative link between prematurity and asthma, while also focusing on disruption of the hypothalamic-pituitary-adrenal (HPA) axis and immune responses as potential underlying mechanisms for stress-induced “premature asthma”. Prenatal stress may not only cause abnormalities in the HPA axis but also epigenetic changes in the fetal glucocorticoid receptor gene (NR3C1), leading to impaired glucocorticoid metabolism. Moreover, maternal stress can alter fetal cytokine balance, favoring Th2 (allergic) immune responses characteristic of atopic asthma: IL-6, which has been associated with premature labor, can promote Th2 responses by stimulating production of IL-4 and IL-13. Given a link among stress, prematurity, and asthma, future research should include birth cohorts aimed at confirming and better characterizing “premature asthma”. If confirmed, clinical trials of prenatal maternal stress reduction would be warranted to reduce the burden of these common co-morbidities. While awaiting the results of such studies, sound policies to prevent domestic and community violence (e.g. from firearms) are justified, not only by public safety but also by growing evidence of detrimental effects of violence-induced stress on psychiatric and somatic health. PMID:26676148

  11. Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family.

    Science.gov (United States)

    Reches, Adi; Yaron, Yuval; Burdon, Kathryn; Crystal-Shalit, Ornit; Kidron, Dvora; Malcov, Mira; Tepper, Ron

    2007-07-01

    To describe a family in which it was possible to perform prenatal diagnosis of Nance-Horan Syndrome (NHS). The fetus was evaluated by 2nd trimester ultrasound. The family underwent genetic counseling and ophthalmologic evaluation. The NHS gene was sequenced. Ultrasound demonstrated fetal bilateral congenital cataract. Clinical evaluation revealed other family members with cataract, leading to the diagnosis of NHS in the family. Sequencing confirmed a frameshift mutation (3908del11bp) in the NHS gene. Evaluation of prenatally diagnosed congenital cataract should include a multidisciplinary approach, combining experience and input from sonographer, clinical geneticist, ophthalmologist, and molecular geneticist.

  12. A new Bayesian model applied to cytogenetic partial body irradiation estimation

    International Nuclear Information System (INIS)

    Higueras, Manuel; Puig, Pedro; Ainsbury, Elizabeth A.; Vinnikov, Volodymyr A.; Rothkamm, Kai

    2016-01-01

    A new zero-inflated Poisson model is introduced for the estimation of partial body irradiation dose and fraction of body irradiated. The Bayes factors are introduced as tools to help determine whether a data set of chromosomal aberrations obtained from a blood sample reflects partial or whole body irradiation. Two examples of simulated cytogenetic radiation exposure data are presented to demonstrate the usefulness of this methodology in cytogenetic biological dosimetry. (authors)

  13. Frequent Chromosome Aberrations Revealed by Molecular Cytogenetic Studies in Patients with Aniridia

    OpenAIRE

    Crolla, John A.; van Heyningen, Veronica

    2002-01-01

    Seventy-seven patients with aniridia, referred for cytogenetic analysis predominantly to assess Wilms tumor risk, were studied by fluorescence in situ hybridization (FISH), through use of a panel of cosmids encompassing the aniridia-associated PAX6 gene, the Wilms tumor predisposition gene WT1, and flanking markers, in distal chromosome 11p13. Thirty patients were found to be chromosomally abnormal. Cytogenetically visible interstitial deletions involving 11p13 were found in 13 patients, 11 o...

  14. Dynamics of cytogenetic indexes of agriculture animals dwelling on the Semipalatinsk test site territory

    International Nuclear Information System (INIS)

    Mukusheva, M.K.; Sejsebaev, A.T.; Karabalin, B.K.; Tusupbaev, V.I.; Zhapbasov, R.Zh.

    2001-01-01

    Aim of the work is analysis of genetic processes taking place in the agricultural animal populations exposed to constant radiation due to increased radiation background in their dwelling places. By the cytogenetic methods the sheep, cattle and horses were examined. It was revealed cytogenetic effect manifested in form of a high genome genetic instability level for studied animals. It is suggested, that the effect is caused with low chronic ionizing radiation doses exposure on the agricultural animals somatic cells

  15. Anticipated ethical challenges with growing molecular prenatal ...

    African Journals Online (AJOL)

    Anticipated ethical challenges with growing molecular prenatal diagnosis in Nigeria. ... Bayero Journal of Pure and Applied Sciences ... Ethical standards in medical laboratories are derived from medical ethics therefore, the four fundamental ...

  16. Prenatal Inflammation Linked to Autism Risk

    Science.gov (United States)

    ... Thursday, January 24, 2013 Prenatal inflammation linked to autism risk Maternal inflammation during early pregnancy may be related to an increased risk of autism in children, according to new findings supported by ...

  17. Eugenesia y diagnóstico prenatal

    OpenAIRE

    González Salvat, Rosa María; González Labrador, Ignacio

    2002-01-01

    El uso del diagnóstico prenatal en la práctica de la genética médica ha hecho que se recuerden teorías eugenésicas. Se realizó una revisión histórica de este término y se relacionó con el uso del diagnóstico prenatal (DPN) y el aborto selectivo a la luz de los conocimientos bioéticos actuales. The use of the prenatal diagnosis in the practice of medical genetics has led us to remember eugenic theories. A historical review of this term was made and it was connected with the use of prenatal ...

  18. Prenatal and pubertal testosterone affect brain lateralization

    NARCIS (Netherlands)

    Beking, T; Geuze, R H; van Faassen, M; Kema, I P; Kreukels, B P C; Groothuis, T G G

    After decades of research, the influence of prenatal testosterone on brain lateralization is still elusive, whereas the influence of pubertal testosterone on functional brain lateralization has not been investigated, although there is increasing evidence that testosterone affects the brain in

  19. prenatal ultrasound diagnosis of discordant occipital encephalocele

    African Journals Online (AJOL)

    drclement

    PRENATAL ULTRASOUND DIAGNOSIS OF DISCORDANT OCCIPITAL. ENCEPHALOCELE IN MULTIPLE PREGNANCY - A CASE REPORT. *O.U Ogbeide (MBBS, FMCR), *EJ IKUBOR (MBBS). *Department of Radiology University of Benin Teaching Hospital, Benin-City, Nigeria. Correspondence: Dr Ogbeide Osesogie ...

  20. Prognostic implications of genetic aberrations in acute myelogenous leukemia with normal cytogenetics.

    Science.gov (United States)

    Ghanem, Hady; Tank, Niki; Tabbara, Imad A

    2012-01-01

    Acute myelogenous leukemia (AML) is a genetically heterogeneous disease in which somatic mutations, that disturb cellular growth, proliferation, and differentiation, accumulate in hematopoietic progenitor cells. Cytogenetic findings, at diagnosis, have been proven to be one of the most important prognostic indicators in AML. About half of the patients with AML are found to have "normal" cytogenetic analysis by standard culture techniques. These patients are considered as an intermediate risk group. Cytogenetically normal AML (CN-AML) is the largest cytogenetic risk group, and the variation in clinical outcome of patients in this group is greater than in any other cytogenetic group. Besides mutation testing, age and presenting white blood cell count are important predictors of overall survival, suggesting that other factors independent of cytogenetic abnormalities, contribute to the outcome of patients with AML. The expanding knowledge at the genetic and molecular levels is helping define several subgroups of patients with CN-AML with variable prognosis. In this review, we describe the clinical and prognostic characteristics of CN-AML patients as a group, as well as the various molecular and genetic aberrations detected in these patients and their clinical and prognostic implications. Copyright © 2011 Wiley Periodicals, Inc.

  1. Comprehensive 5-Year Study of Cytogenetic Aberrations in 668 Infertile Men

    Science.gov (United States)

    Yatsenko, Alexander N.; Yatsenko, Svetlana A.; Weedin, John W.; Lawrence, Amy E.; Patel, Ankita; Peacock, Sandra; Matzuk, Martin M.; Lamb, Dolores J.; Cheung, Sau Wai; Lipshultz, Larry I.

    2010-01-01

    Purpose The causes of male infertility are heterogeneous but more than 50% of cases have a genetic basis. Specific genetic defects have been identified in less than 20% of infertile males and, thus, most causes remain to be elucidated. The most common cytogenetic defects associated with nonobstructive azoospermia are numerical and structural chromosome abnormalities, including Klinefelter syndrome (47,XXY) and Y chromosome microdeletions. To refine the incidence and nature of chromosomal aberrations in males with infertility we reviewed cytogenetic results in 668 infertile men with oligozoospermia and azoospermia. Materials and Methods High resolution Giemsa banding chromosome analysis and/or fluorescence in situ hybridization were done in 668 infertile males referred for routine cytogenetic analysis between January 2004 and March 2009. Results The overall incidence of chromosomal abnormalities was about 8.2%. Of the 55 patients with abnormal cytogenetic findings sex chromosome aneuploidies were observed in 29 (53%), including Klinefelter syndrome in 27 (49%). Structural chromosome abnormalities involving autosomes (29%) and sex chromosomes (18%) were detected in 26 infertile men. Abnormal cytogenetic findings were observed in 35 of 264 patients (13.3%) with azoospermia and 19 of 365 (5.2%) with oligozoospermia. Conclusions Structural chromosomal defects and low level sex chromosome mosaicism are common in oligozoospermia cases. Extensive cytogenetic assessment and fluorescence in situ hybridization may improve the detection rate in males with oligozoospermia. These findings highlight the need for efficient genetic testing in infertile men so that couples may make informed decisions on assisted reproductive technologies to achieve parenthood. PMID:20172548

  2. A short introduction to cytogenetic studies in mammals with reference to the present volume.

    Science.gov (United States)

    Graphodatsky, A; Ferguson-Smith, M A; Stanyon, R

    2012-01-01

    Genome diversity has long been studied from the comparative cytogenetic perspective. Early workers documented differences between species in diploid chromosome number and fundamental number. Banding methods allowed more detailed descriptions of between-species rearrangements and classes of differentially staining chromosome material. The infusion of molecular methods into cytogenetics provided a third revolution, which is still not exhausted. Chromosome painting has provided a global view of the translocation history of mammalian genome evolution, well summarized in the contributions to this special volume. More recently, FISH of cloned DNA has provided details on defining breakpoint and intrachromosomal marker order, which have helped to document inversions and centromere repositioning. The most recent trend in comparative molecular cytogenetics is to integrate sequencing information in order to formulate and test reconstructions of ancestral genomes and phylogenomic hypotheses derived from comparative cytogenetics. The integration of comparative cytogenetics and sequencing promises to provide an understanding of what drives chromosome rearrangements and genome evolution in general. We believe that the contributions in this volume, in no small way, point the way to the next phase in cytogenetic studies. Copyright © 2012 S. Karger AG, Basel.

  3. [EVALUATION OF THE CYTOGENETIC AND MUTAGEN-MODIFYING ACTIVITY OF CAFFEINE IN MOUSE BONE MARROW CELLS].

    Science.gov (United States)

    Durnev, A D; Kulakova, A V; Zhanataev, A K; Oganesiants, L A

    2015-01-01

    The cytogenetic and mutagen-modifying activity of caffeine was studied with the method of chromosomal aberrations in bone marrow cells of mice hybrids F1 CBAxC57BL/6. Caffeine per se was administered intragastrically or intraperitoneally, and in combination with mutagens--intragastrically. Mutagens injected intraperitoneally. Caffeine at doses of 10 and 100 mg/kg (single dose) and 10 mg/kg (five days) in parenteral administration and oral introduction failed to possess cytogenetic activity. In combination with mutagens caffeine (1, 10 and 100 mg/kg) had no effect on the cytogenetic activity of dioxydine (200 mg/kg/intraperitoneally) for a single coadministration, five-day pre or five-day coadministration. In combination with other mutagens under the same processing conditions caffeine at doses of 10 and 100 mg/kg significantly increased cytogenetic effects of cyclophosphamide (20 mg/kg) in the pretreatment of the animals and at the dose of 100 mg/kg significantly attenuated the cytogenetic effect of cisplatin (5 mg/kg) in single and repeated co-administration. Thus we have shown the absence of caffeine cytogenetic activity in vivo and showed the multidirectional effect of caffeine in doses far exceeding its daily consumption, to the manifestation ofcytogenetic effects of certain chemical mutagens in some modes of processing animals.

  4. Prenatal and postnatal evaluation of polymicrogyria with band heterotopia.

    Science.gov (United States)

    Nagaraj, Usha D; Hopkin, Robert; Schapiro, Mark; Kline-Fath, Beth

    2017-09-01

    The coexistence of band heterotopia and polymicrogyria is extremely rare though it has been reported in the presence of corpus callosum anomalies and megalencephaly. We present prenatal and postnatal MRI findings of a rare case of diffuse cortical malformation characterized by polymicrogyria and band heterotopia. Agenesis of the corpus callosum and megalencephaly were also noted. In addition, bilateral closed-lip schizencephaly was identified on postnatal MRI, which has not been previously reported with this combination of imaging findings. Polymicrogyria with band heterotopia can occur and can be diagnosed with fetal MRI. The coexistence of corpus callosum anomalies and megalencephaly comprises a rare phenotype that has been previously described, suggesting an underlying genetic abnormality.

  5. Prenatal and postnatal evaluation of polymicrogyria with band heterotopia

    Directory of Open Access Journals (Sweden)

    Usha D. Nagaraj, MD

    2017-09-01

    Full Text Available The coexistence of band heterotopia and polymicrogyria is extremely rare though it has been reported in the presence of corpus callosum anomalies and megalencephaly. We present prenatal and postnatal MRI findings of a rare case of diffuse cortical malformation characterized by polymicrogyria and band heterotopia. Agenesis of the corpus callosum and megalencephaly were also noted. In addition, bilateral closed-lip schizencephaly was identified on postnatal MRI, which has not been previously reported with this combination of imaging findings. Polymicrogyria with band heterotopia can occur and can be diagnosed with fetal MRI. The coexistence of corpus callosum anomalies and megalencephaly comprises a rare phenotype that has been previously described, suggesting an underlying genetic abnormality.

  6. Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly

    Directory of Open Access Journals (Sweden)

    Marie-Emmanuelle Naud

    2017-01-01

    Full Text Available Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis or chromosomal microarray analysis in patients presenting intellectual disability, facial dysmorphism, and/or malformations. We report on a fetus with craniofacial dysmorphism, talipes equinovarus, and syndactyly associated with a de novo 2.5 Mb 17q24.1q24.2 deletion. Among the deleted genes, KPNA2 and PSMD12 are discussed for the correlation with the fetal phenotype. This is the first case of prenatal diagnosis of 17q24.1q24.2 deletion.

  7. Presenting the Prenatal Caregiving Experiences Questionnaire

    DEFF Research Database (Denmark)

    Røhder, Katrine; Trier, Christopher Høier; Brennan, Jessica

    to the child´s attachment system. The Prenatal Caregiving Experiences Questionnaire (PCEQ) (Brennan, George, & Solomon, 2013) is the first questionnaire that directly assesses prenatal caregiving representation. This poster presentation brings together different researchers who use the instrument in ongoing...... longitudinal research projects. The poster includes a description of the development of the PCEQ questionnaire, the theoretical background, as well as preliminary data on future mothers and fathers from the WARM study....

  8. Can economics be applied to prenatal screening?

    OpenAIRE

    Nicholas Phin

    1990-01-01

    This paper is a review of the economics of prenatal screening as seen from a medical point of view. The difficulties and controversies over the economic analysis are examined with specific reference to screening for Down syndrome. The aims and principles of prenatal screening are set out and discussed before reviewing the attempts that have been made to assess the costs and benefits of screening for Down syndrome. The major problem identified is the measurement and valuation of benefits. This...

  9. Prenatally Diagnosis and Outcome of Fetuses with Cardiac Rhabdomyoma – Single Centre Experience

    Science.gov (United States)

    Bejiqi, Ramush; Retkoceri, Ragip; Bejiqi, Hana

    2017-01-01

    BACKGROUND Cardiac rhabdomyoma (CRs) are the most common primary tumour of the heart in infants and children. Usually are multiple and, basing on the location can cause a haemodynamic disturbance, dysrhythmias or heart failure during the fetal and early postnatal period. CRs have a natural history of spontaneous regression and are closely associated with tuberous sclerosis complex (TSC). It has an association with tuberous sclerosis (TS), and in those, the tumour may regress and disappear completely, or remain consistent in size. AIM: We aimed to evaluate the prenatal diagnosis, clinical presentation and outcome of CRs and their association with TSC in a single centre. The median follow-up period was three years (range: 6 months - 5 years). MATERIAL AND METHODS: We reviewed medical records of all fetuses diagnosed prenatally with cardiac rhabdomyoma covering the period January 2010 to December 2016 which had undergone detailed ultrasound evaluation at a single centre with limited technical resources. RESULTS: Twelve fetuses were included in the study; mostly had multiple tumours and a total of 53 tumours were identified in all patients - the maximum was one fetus with16 tumours. All patients were diagnosed prenatally by fetal echocardiography. In two patient’s haemodynamic disturbances during the fetal period was noted and pregnancies have been terminated. After long consultation termination of pregnancy was chosen by the parents in totally 8 cases. In four continuing pregnancies during the first year of live tumours regressed. TSC was diagnosed in all patients during the follow-up. CONCLUSIONS: Cardiac rhabdomyoma are benign from the cardiovascular standpoint in most affected fetuses. An early prenatal diagnosis may help for an adequate planning of perinatal monitoring and treatment with the involvement of a multidisciplinary team. Large tumour size, the number of tumours and localisation may cause hydrops, and they are significantly associated with poor

  10. Family structure and use of prenatal care

    Directory of Open Access Journals (Sweden)

    Elisabete Alves

    2015-06-01

    Full Text Available This cross-sectional study intended to assess the use of prenatal care according to the family structure in a population with free universal access to prenatal care. In 2005-2006, the Portuguese birth cohort was assembled by the recruitment of puerperae at public maternity wards in Porto, Portugal. In the current analysis, 7,211 were included. Data on socio-demographic characteristics, obstetric history, and prenatal care were self-reported. Single mothers were considered as those whose household composition did not include a partner at delivery. Approximately 6% of the puerperae were single mothers. These women were more likely to have an unplanned pregnancy (OR = 6.30; 95%CI: 4.94-8.04, an inadequate prenatal care (OR = 2.30; 95%CI: 1.32-4.02, and to miss the ultrasound and the intake of folic acid supplements during the first trimester of pregnancy (OR = 1.71; 95%CI: 1.30-2.27; and OR = 1.67; 95%CI: 1.32-2.13, respectively. The adequacy and use of prenatal care was less frequent in single mothers. Educational interventions should reinforce the use and early initiation of prenatal care.

  11. Barriers to adequate prenatal care utilization in American Samoa

    Science.gov (United States)

    Hawley, Nicola L; Brown, Carolyn; Nu’usolia, Ofeira; Ah-Ching, John; Muasau-Howard, Bethel; McGarvey, Stephen T

    2013-01-01

    Objective To describe the utilization of prenatal care in American Samoan women and to identify socio-demographic predictors of inadequate prenatal care utilization. Methods Using data from prenatal clinic records, women (n=692) were categorized according to the Adequacy of Prenatal Care Utilization Index as having received adequate plus, adequate, intermediate or inadequate prenatal care during their pregnancy. Categorical socio-demographic predictors of the timing of initiation of prenatal care (week of gestation) and the adequacy of received services were identified using one way Analysis of Variance (ANOVA) and independent samples t-tests. Results Between 2001 and 2008 85.4% of women received inadequate prenatal care. Parity (P=0.02), maternal unemployment (P=0.03), and both parents being unemployed (P=0.03) were negatively associated with the timing of prenatal care initation. Giving birth in 2007–2008, after a prenatal care incentive scheme had been introduced in the major hospital, was associated with earlier initiation of prenatal care (20.75 versus 25.12 weeks; Pprenatal care utilization in American Samoa is a major concern. Improving healthcare accessibility will be key in encouraging women to attend prenatal care. The significant improvements in the adequacy of prenatal care seen in 2007–2008 suggest that the prenatal care incentive program implemented in 2006 may be a very positive step toward addressing issues of prenatal care utilization in this population. PMID:24045912

  12. Myeloid Sarcoma Predicts Superior Outcome in Pediatric AML; Can Cytogenetics Solve the Puzzle?

    Science.gov (United States)

    Pramanik, Raja; Tyagi, Anudishi; Chopra, Anita; Kumar, Akash; Vishnubhatla, Sreenivas; Bakhshi, Sameer

    2018-06-01

    The purpose of our study was to evaluate the clinical, cytogenetic, and molecular features, and survival outcomes in patients with acute myeloid leukemia (AML) with myeloid sarcoma (MS) and compare them with patients with AML without MS. This was a retrospective analysis of de novo pediatric AML patients with or without MS diagnosed at our cancer center between June 2003 and June 2016. MS was present in 121 of 570 (21.2%), the most frequent site being the orbit. Patients with MS had a younger median age (6 years vs. 10 years) and presented with higher hemoglobin and platelet but lower white blood cell count compared with patients without MS. Further, t (8; 21) (P < .01), loss of Y chromosome (P < .01), and deletion 9q (P = .03) were significantly higher in patients with AML with MS. Event-free survival (EFS; P = .003) and overall survival (OS; P = .001) were better among patients with AML with MS (median EFS 21.0 months and median OS 37.1 months) compared with those with AML without MS (median EFS 11.2 months and median OS 16.2 months). The t (8; 21) was significantly associated with MS (odds ratio, 3.92). In a comparison of the 4 groups divided according to the presence or absence of MS and t (8; 21), the subgroup of patients having MS without concomitant t (8; 21) was the only group to have a significantly better OS (hazard ratio, 0.53; 95% confidence interval, 0.34-0.82; P = .005). Although t (8; 21) was more frequently associated with MS, it did not appear to be the reason for better outcome. Copyright © 2018 Elsevier Inc. All rights reserved.

  13. Comparative cytogenetic characterization of primary canine melanocytic lesions using array CGH and fluorescence in situ hybridization.

    Science.gov (United States)

    Poorman, Kelsey; Borst, Luke; Moroff, Scott; Roy, Siddharth; Labelle, Philippe; Motsinger-Reif, Alison; Breen, Matthew

    2015-06-01

    Melanocytic lesions originating from the oral mucosa or cutaneous epithelium are common in the general dog population, with up to 100,000 diagnoses each year in the USA. Oral melanoma is the most frequent canine neoplasm of the oral cavity, exhibiting a highly aggressive course. Cutaneous melanocytomas occur frequently, but rarely develop into a malignant form. Despite the differential prognosis, it has been assumed that subtypes of melanocytic lesions represent the same disease. To address the relative paucity of information about their genomic status, molecular cytogenetic analysis was performed on the three recognized subtypes of canine melanocytic lesions. Using array comparative genomic hybridization (aCGH) analysis, highly aberrant distinct copy number status across the tumor genome for both of the malignant melanoma subtypes was revealed. The most frequent aberrations included gain of dog chromosome (CFA) 13 and 17 and loss of CFA 22. Melanocytomas possessed fewer genome wide aberrations, yet showed a recurrent gain of CFA 20q15.3-17. A distinctive copy number profile, evident only in oral melanomas, displayed a sigmoidal pattern of copy number loss followed immediately by a gain, around CFA 30q14. Moreover, when assessed by fluorescence in situ hybridization (FISH), copy number aberrations of targeted genes, such as gain of c-MYC (80 % of cases) and loss of CDKN2A (68 % of cases), were observed. This study suggests that in concordance with what is known for human melanomas, canine melanomas of the oral mucosa and cutaneous epithelium are discrete and initiated by different molecular pathways.

  14. Fertility Preservation for Children Diagnosed with Cancer

    Medline Plus

    Full Text Available ... for Women Diagnosed with Cancer Fertility Preservation for Men Diagnosed with Cancer Fertility Preservation for Children Diagnosed ... for Women Diagnosed with Cancer Fertility Preservation for Men Diagnosed with Cancer Fertility Preservation for Children Diagnosed ...

  15. [Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ].

    Science.gov (United States)

    Hu, Hao; Wang, Hua; Jia, Zhengjun; Xie, Qiong

    2014-08-01

    To perform genotyping analysis and subsequent prenatal genetic diagnosis for two families affected with oculocutaneous albinism (OCA). Direct sequencing of TYR and P genes was performed in two albino probands. Family members were screened for corresponding mutant alleles. Prenatal genetic diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) at mid-pregnancy through amniocentesis. No mutations were detected in the TYR gene in either probands, whereas 4 heterozygous mutations of the P gene were found, namely c.406C>T, c.535A>G, c.808-2A>G and c.2180T>C, among which c.535A>G and c.808-2A>G were novel. In the first round prenatal genetic testing, both fetuses were found to have the same genotypes as the probands. Both families had decided to terminate the pregnancy after genetic counseling. In the second round testing, neither of the fetuses was found to be affected by genotyping. The pregnancies continued and two healthy fetuses were born. OCA can be classified by genotyping, with which reliable prenatal diagnosis and feasible genetic counseling may be provided.

  16. Prenatal Diagnosis of Cloacal Exstrophy: A Case Report and Differential Diagnosis with a Simple Omphalocele

    Directory of Open Access Journals (Sweden)

    Ching-Yu Chou

    2015-03-01

    Full Text Available Cloacal exstrophy is a rare congenital disorder that may lead to mortality and morbidity. Although the prenatal diagnosis of cloacal exstrophy can be made by a midtrimester ultrasound, it is difficult to differentiate it from a simple omphalocele that can be corrected completely by surgery without morbidity. We reported a case with cloacal exstrophy and reviewed previous literature on differentiating it from an omphalocele. A 33-year-old, pregnant female visited our outpatient center for prenatal care at the 22nd gestational week. The midtrimester ultrasound showed fetal anomalies including a protruding mass from umbilicus, absence of bladder, ambiguous genitalia, and bilateral renal hydronephrosis. The parents received prenatal genetic counseling and decided to continue the pregnancy. A female baby was delivered at the 37th gestational week via vaginal delivery, and cloacal exstrophy without omphalocele was diagnosed. Cloacal exstrophy is a complicated congenital disorder that should be differentiated from a simple omphalocele. Prenatal counseling and postnatal care in a tertiary medical center are important for parents and the fetus, respectively.

  17. Diagnoser som styringshybrider

    DEFF Research Database (Denmark)

    Bossen, Claus; Danholt, Peter; Ubbesen, Morten Bonde

    2016-01-01

    - Relaterede Grupper (DRG). DRG er et internationalt udbredt system til at knytte patienter og deres behandlingsomkostninger sammen i faste kategorier med henblik på at måle hospitalers produktivitet. Med afsæt i Science-Technology-Studies (STS)-feltet analyserer artiklen, hvorledes diagnoser overskrider deres......, hvordan DRG-systemet alternativt kan anskues som en samfundsudviklende infrastruktur, idet det forsamler og skaber gensidigt involverende interaktioner imellem politiske, administrative og sundhedsprofessionelle domæner. En sådan indsigt bidrager til en udvidet forståelse af infrastrukturers roller som...

  18. Comportamiento del programa de diagnóstico prenatal cromosómico Behavior of the prenatal chromosomal diagnostic program

    Directory of Open Access Journals (Sweden)

    Mabel Domínguez Mena

    2005-04-01

    Full Text Available Se realizó un estudio descriptivo en el Centro de Desarrollo de la Genética del municipio La Lisa, en el período comprendido de enero de 1999 hasta diciembre de 2003. La muestra la conformaron 251 embarazadas con edad materna avanzada (38 años o más que acudieron a recibir asesoramiento genético por tener riesgo incrementado de cromosomopatías. Los datos fueron procesados con el cálculo porcentual. Se realizaron diagnóstico prenatal (DPN 189 pacientes (75,29 %, y se obtuvieron 6 casos positivos, 4 síndrome Down (47 XY+21, 1 súper macho (47 XYY, 1 trisomía 18 (47 XY+18 y 15 casos sin resultados. No se realizaron el diagnóstico prenatal 62 pacientes, 12 por amenaza de aborto, 25 por edad gestacional avanzada, 25 por negarse a la realización del proceder y 3 por otras causas. El asesoramiento genético fue no directivo, respetando las decisiones personales, confiabilidad, exponiendo la relación riesgo / beneficio y obteniendo el consentimiento informado para su realización.A descriptive study was conducted in the Center of Genetic Development in La Lisa municipality from January 1999 to December 2003. The sample was composed of 251 pregnant women with advanced maternal age (38 or over that seeked genetic counselling for having increased risk of chromosomopathies. The data were processed by the percentage calculation. 189 patients (75.29 % were prenatally diagnosed (PND. 6 cases were positive, 4 Down's syndrome (47 XY+ 21, 1 super male (47 XYY, 1 trisomy 18 (47 XY + 18 and 15 cases without results. The prenatal diagnosis was not made in 62 patients, 12 due to threatened abortion, 25 due to advanced gestational age, 25 rejected the procedure and 3 for other causes. The genetic counseling was not directive. It respected the personal decisions and it was also reliable, presented the risk-benefit relation and required the informed consent.

  19. Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.

    Science.gov (United States)

    Chandler, Natalie; Best, Sunayna; Hayward, Jane; Faravelli, Francesca; Mansour, Sahar; Kivuva, Emma; Tapon, Dagmar; Male, Alison; DeVile, Catherine; Chitty, Lyn S

    2018-03-29

    PurposeUnexpected fetal abnormalities occur in 2-5% of pregnancies. While traditional cytogenetic and microarray approaches achieve diagnosis in around 40% of cases, lack of diagnosis in others impedes parental counseling, informed decision making, and pregnancy management. Postnatally exome sequencing yields high diagnostic rates, but relies on careful phenotyping to interpret genotype results. Here we used a multidisciplinary approach to explore the utility of rapid fetal exome sequencing for prenatal diagnosis using skeletal dysplasias as an exemplar.MethodsParents in pregnancies undergoing invasive testing because of sonographic fetal abnormalities, where multidisciplinary review considered skeletal dysplasia a likely etiology, were consented for exome trio sequencing (both parents and fetus). Variant interpretation focused on a virtual panel of 240 genes known to cause skeletal dysplasias.ResultsDefinitive molecular diagnosis was made in 13/16 (81%) cases. In some cases, fetal ultrasound findings alone were of sufficient severity for parents to opt for termination. In others, molecular diagnosis informed accurate prediction of outcome, improved parental counseling, and enabled parents to terminate or continue the pregnancy with certainty.ConclusionTrio sequencing with expert multidisciplinary review for case selection and data interpretation yields timely, high diagnostic rates in fetuses presenting with unexpected skeletal abnormalities. This improves parental counseling and pregnancy management.Genetics in Medicine advance online publication, 29 March 2018; doi:10.1038/gim.2018.30.

  20. Fetal adrenal gland enlargement - prenatal and postnatal management.

    Science.gov (United States)

    Lackova, Eliska; Cunderlik, Anton; Ticha, Lubica; Gabor, Maria

    2017-11-01

    The enlargement of suprarenal gland is related to preterm birth and the birth weight. The ultrasound measurement of fetal adrenal gland volume may identify women at risk for impending preterm birth. The aim of our study was to investigate the newborns in the region of western Slovakia followed up due to suprarenal gland enlargement. To set the ratio of prenatally diagnosed suprarenal gland enlargment, postnatal managment and treatment and interventions. The newborns with congenital adrenal hyperplasia were excluded. We have analyzed 6 years of medical records of all cases from the western Slovakia region of suprarenal gland enlargement encountered to 1st Pediatric Department, Children's University Hospital Bratislava Republic in the time period of January 2010 to Janurary 2016. The diagnosis of suprarenal gland enlargement was set by ultrasound examination performed on the 4th postnatal day as an overall screening test. Newborns with positive laboratory screening on congenital adrenal hyperplasia (CAH) were excluded from our study. We analyzed the origin of surarenal gland enlargement, gestation week on the due date, the birth weight and other comorbidities and genetic pathologies in newborns with the enlarged suprarenal glands. There were 6 newborns followed up due to suprarenal gland enlargement. All of the patients had diagnosed the adrenal haemorrhage. Adrenal lesions like adrenal cysts or neuroblastomas were not confirmed. All of the adrenal enlargements were benign with no need of other medical or surgical intervention. None of the newborn patients had other genetic abnormalities, mineral or hormonal imbalances, problems with arterial pressure or haemodynamic instability. All of the patients underwent at least 5 prenatal ultrasound tests and at least 2 postnatal ultrasound measurements. The avarage birth weight was 3030 grams (2700 grams - to 3750 grams). The avarage birth lenght was 50 cm (47 centimeter to 53 cm).The average gestation week (gw) on due date

  1. Does offering prenatal screening influence pregnant women's attitudes regarding prenatal testing?

    NARCIS (Netherlands)

    Kleinveld, J.H.; van den Berg, M.; van Eijk, J.T.; van Vugt, J.M.G.; van der Wal, G.; Timmermans, D.R.M.

    2008-01-01

    Objectives: This study aims to find out whether offering prenatal screening for Down syndrome and neural tube defects influences pregnant women's attitudes toward having a screening test. Methods: Women were randomised into a group that was offered prenatal screening and a group that was not offered

  2. Prenatal stress may increase vulnerability to life events comparison with the effects of prenatal dexamethasone

    DEFF Research Database (Denmark)

    Hougaard, Karin; Andersen, Maibritt B; Kjaer, Sanna L

    2005-01-01

    naïve at the time of ASR testing, whereas the other had been through blood sampling for assessment of the hormonal stress response to restraint, 3 months previously. Both prenatal CMS and dexamethasone increased ASR in the offspring compared to controls, but only in prenatally stressed offspring......Prenatal stress has been associated with a variety of alterations in the offspring. The presented observations suggest that rather than causing changes in the offspring per se, prenatal stress may increase the organism's vulnerability to aversive life events. Offspring of rat dams stressed...... of the acoustic startle response. Further, a single aversive life event showed capable of changing the reactivity of prenatally stressed offspring, whereas offspring of dams going through a less stressful gestation was largely unaffected by this event. This suggests that circumstances dating back to the very...

  3. Prenatal programming of childhood overweight and obesity.

    Science.gov (United States)

    Huang, Jennifer S; Lee, Tiffany A; Lu, Michael C

    2007-09-01

    To review the scientific evidence for prenatal programming of childhood overweight and obesity, and discuss its implications for MCH research, practice, and policy. A systematic review of observational studies examining the relationship between prenatal exposures and childhood overweight and obesity was conducted using MOOSE guidelines. The review included literature posted on PubMed and MDConsult and published between January 1975 and December 2005. Prenatal exposures to maternal diabetes, malnutrition, and cigarette smoking were examined, and primary study outcome was childhood overweight or obesity as measured by body mass index (BMI) for children ages 5 to 21. Four of six included studies of prenatal exposure to maternal diabetes found higher prevalence of childhood overweight or obesity among offspring of diabetic mothers, with the highest quality study reporting an odds ratio of adolescent overweight of 1.4 (95% CI 1.0-1.9). The Dutch famine study found that exposure to maternal malnutrition in early, but not late, gestation was associated with increased odds of childhood obesity (OR 1.9, 95% CI 1.5-2.4). All eight included studies of prenatal exposure to maternal smoking showed significantly increased odds of childhood overweight and obesity, with most odds ratios clustering around 1.5 to 2.0. The biological mechanisms mediating these relationships are unknown but may be partially related to programming of insulin, leptin, and glucocorticoid resistance in utero. Our review supports prenatal programming of childhood overweight and obesity. MCH research, practice, and policy need to consider the prenatal period a window of opportunity for obesity prevention.

  4. [The mutation analysis of PAH gene and prenatal diagnosis in classical phenylketonuria family].

    Science.gov (United States)

    Yan, Yousheng; Hao, Shengju; Yao, Fengxia; Sun, Qingmei; Zheng, Lei; Zhang, Qinghua; Zhang, Chuan; Yang, Tao; Huang, Shangzhi

    2014-12-01

    To characterize the mutation spectrum of phenylalanine hydroxylase (PAH) gene and perform prenatal diagnosis for families with classical phenylketonuria. By stratified sequencing, mutations were detected in the exons and flaking introns of PAH gene of 44 families with classical phenylketonuria. 47 fetuses were diagnosed by combined sequencing with linkage analysis of three common short tandem repeats (STR) (PAH-STR, PAH-26 and PAH-32) in the PAH gene. Thirty-one types of mutations were identified. A total of 84 mutations were identified in 88 alleles (95.45%), in which the most common mutation have been R243Q (21.59%), EX6-96A>G (6.82%), IVS4-1G>A (5.86%) and IVS7+2T>A (5.86%). Most mutations were found in exons 3, 5, 6, 7, 11 and 12. The polymorphism information content (PIC) of these three STR markers was 0.71 (PAH-STR), 0.48 (PAH-26) and 0.40 (PAH-32), respectively. Prenatal diagnosis was performed successfully with the combined method in 47 fetuses of 44 classical phenylketonuria families. Among them, 11 (23.4%) were diagnosed as affected, 24 (51.1%) as carriers, and 12 (25.5%) as unaffected. Prenatal diagnosis can be achieved efficiently and accurately by stratified sequencing of PAH gene and linkage analysis of STR for classical phenylketonuria families.

  5. Prenatal Diagnosis of Persistent Left Superior Vena Cava and its Clinical Significance

    Directory of Open Access Journals (Sweden)

    Aytül Çorbacıoğlu Esmer

    2014-03-01

    Full Text Available Background: Persistent left superior vena cava (PLSVC is a variant of systemic venous return which is observed in 0.3% of autopsies in the general population and in 4-8% of patients with congenital heart disease. Aims: To evaluate associated cardiac, extracardiac and chromosomal anomalies in prenatally diagnosed cases of PLSVC and to review their outcome. Study Design: Retrospective comparative study. Methods: The data of patients with a prenatal diagnosis of PLSVC between May 2008 and January 2013 were reviewed retrospectively. Results: Data of 31 cases were reviewed. Fifteen (48.4% cases were associated with cardiac defects and 17 (54.8% cases had associated extracardiac sonographic or postpartum findings. Two fetuses had karyotype anomalies. Outcome was significantly more favorable in cases not associated with cardiac defects in comparison to those associated with cardiac anomalies (84.6% vs. 33.3%, p=0.009. All cases with isolated PLSVC survived, while among the cases associated with extracardiac anomalies, with cardiac anomalies and with both extracardiac and cardiac anomalies, the survival rate was 75%, 50% and 22.2%, respectively. The most frequent group of cardiac anomalies associated with PLSVC was septal defects and VSD was the most common heart defect individually, being observed in nine fetuses. Conclusion: Prenatally diagnosed PLSVC is associated with cardiac and extracardiac anomalies in the majority of cases. Outcome is significantly worse if PLSVC is associated with a cardiac defect, and the prognosis is excellent in isolated cases.

  6. Cancer predictive value of cytogenetic markers used in occupational health surveillance programs. A report from an ongoing study by the European Study Group on Cytogenetic Biomarkers and Health

    Energy Technology Data Exchange (ETDEWEB)

    Hagmar, Lars; Stroemberg, Ulf; Mikoczy, Zoli; Tinnerberg, Hakan; Skerfving, Staffan [Department of Occupational and Environmental Medicine, Lund University, S-221 85 Lund (Sweden); Bonassi, Stefano; Lando, Cecilia [Department of Environmental Epidemiology, Istituto Nazionale per la Ricerca sul Cancro, Viale Benedetto XV, I-1016132 Genoa (Italy); Hansteen, Inger-Lise [Department of Occupational Medicine, Telemark Central Hospital, N-3710 Skien (Norway); Montagud, Alicia Huici [Centro Nacional de Condiciones de Trabajo, Instituto Nacional de Seguridad e Higiene en el Trabajo, Dulcet 2-10, ES-08034 Barcelona (Spain); Knudsen, Lisbeth [National Institute of Occupational Health, Lersoe Parkalle 105, DK-2100 Copenhagen (Denmark); Norppa, Hannu [Finnish Institute of Occupational Health, Topeliuksekatu 41 aA, FIN-00250 Helsinki (Finland); Reuterwall, Christina [National Institute of Work Life, S-171 84 Solna (Sweden); Broegger, Anton [Norwegian Radium Hospital, Oslo (Norway); Forni, Alessandra [Istituto di Medicina del Lavoro Clinica del Lavoro `L. Devoto`, Milan (Italy); Hoegstedt, Benkt [Department of Occupational Medicine, Central Hospital, Halmstad (Sweden); Lambert, Bo [Department of Environmental Medicine, Centre for Nutrition and Toxicology, Karolinska Institute, Stockholm (Sweden); Mitelman, Felix [Department of Clinical Genetics, Lund University, Lund (Sweden); Nordenson, Ingrid [National Institute of Work Life, Umea (Sweden); Salomaa, Sisko [Finnish Center for Radiation and Nuclear Safety, Helsinki (Finland)

    1998-09-20

    The cytogenetic endpoints in peripheral blood lymphocytes: chromosomal aberrations (CA), sister chromatid exchange (SCE) and micronuclei (MN) are established biomarkers of exposure for mutagens or carcinogens in the work environment. However, it is not clear whether these biomarkers also may serve as biomarkers for genotoxic effects which will result in an enhanced cancer risk. In order to assess this problem, Nordic and Italian cohorts were established, and preliminary results from these two studies indicated a predictive value of CA frequency for cancer risk, whereas no such associations were observed for SCE or MN. A collaborative study between the Nordic and Italian research groups, will enable a more thorough evaluation of the cancer predictivity of the cytogenetic endpoints. We here report on the establishment of a joint data base comprising 5271 subjects, examined 1965-1988 for at least one cytogenetic biomarker. Totally, 3540 subjects had been examined for CA, 2702 for SCE and 1496 for MN. These cohorts have been followed-up with respect to subsequent cancer mortality or cancer incidence, and the expected values have been calculated from rates derived from the general populations in each country. Stratified cohort analyses will be performed with respect to the levels of the cytogenetic biomarkers. The importance of potential effect modifiers such as gender, age at test, and time since test, will be evaluated using Poisson regression models. The remaining two potential effect modifiers, occupational exposures and smoking, will be assessed in a case-referent study within the study base

  7. Cancer predictive value of cytogenetic markers used in occupational health surveillance programs. A report from an ongoing study by the European Study Group on Cytogenetic Biomarkers and Health

    International Nuclear Information System (INIS)

    Hagmar, Lars; Stroemberg, Ulf; Mikoczy, Zoli; Tinnerberg, Hakan; Skerfving, Staffan; Bonassi, Stefano; Lando, Cecilia; Hansteen, Inger-Lise; Montagud, Alicia Huici; Knudsen, Lisbeth; Norppa, Hannu; Reuterwall, Christina; Broegger, Anton; Forni, Alessandra; Hoegstedt, Benkt; Lambert, Bo; Mitelman, Felix; Nordenson, Ingrid; Salomaa, Sisko

    1998-01-01

    The cytogenetic endpoints in peripheral blood lymphocytes: chromosomal aberrations (CA), sister chromatid exchange (SCE) and micronuclei (MN) are established biomarkers of exposure for mutagens or carcinogens in the work environment. However, it is not clear whether these biomarkers also may serve as biomarkers for genotoxic effects which will result in an enhanced cancer risk. In order to assess this problem, Nordic and Italian cohorts were established, and preliminary results from these two studies indicated a predictive value of CA frequency for cancer risk, whereas no such associations were observed for SCE or MN. A collaborative study between the Nordic and Italian research groups, will enable a more thorough evaluation of the cancer predictivity of the cytogenetic endpoints. We here report on the establishment of a joint data base comprising 5271 subjects, examined 1965-1988 for at least one cytogenetic biomarker. Totally, 3540 subjects had been examined for CA, 2702 for SCE and 1496 for MN. These cohorts have been followed-up with respect to subsequent cancer mortality or cancer incidence, and the expected values have been calculated from rates derived from the general populations in each country. Stratified cohort analyses will be performed with respect to the levels of the cytogenetic biomarkers. The importance of potential effect modifiers such as gender, age at test, and time since test, will be evaluated using Poisson regression models. The remaining two potential effect modifiers, occupational exposures and smoking, will be assessed in a case-referent study within the study base

  8. Array comparative genomic hybridization and cytogenetic analysis in pediatric acute leukemias

    Science.gov (United States)

    Dawson, A.J.; Yanofsky, R.; Vallente, R.; Bal, S.; Schroedter, I.; Liang, L.; Mai, S.

    2011-01-01

    Most patients with acute lymphocytic leukemia (all) are reported to have acquired chromosomal abnormalities in their leukemic bone marrow cells. Many established chromosome rearrangements have been described, and their associations with specific clinical, biologic, and prognostic features are well defined. However, approximately 30% of pediatric and 50% of adult patients with all do not have cytogenetic abnormalities of clinical significance. Despite significant improvements in outcome for pediatric all, therapy fails in approximately 25% of patients, and these failures often occur unpredictably in patients with a favorable prognosis and “good” cytogenetics at diagnosis. It is well known that karyotype analysis in hematologic malignancies, although genome-wide, is limited because of altered cell kinetics (mitotic rate), a propensity of leukemic blasts to undergo apoptosis in culture, overgrowth by normal cells, and chromosomes of poor quality in the abnormal clone. Array comparative genomic hybridization (acgh—“microarray”) has a greatly increased genomic resolution over classical cytogenetics. Cytogenetic microarray, which uses genomic dna, is a powerful tool in the analysis of unbalanced chromosome rearrangements, such as copy number gains and losses, and it is the method of choice when the mitotic index is low and the quality of metaphases is suboptimal. The copy number profile obtained by microarray is often called a “molecular karyotype.” In the present study, microarray was applied to 9 retrospective cases of pediatric all either with initial high-risk features or with at least 1 relapse. The conventional karyotype was compared to the “molecular karyotype” to assess abnormalities as interpreted by classical cytogenetics. Not only were previously undetected chromosome losses and gains identified by microarray, but several karyotypes interpreted by classical cytogenetics were shown to be discordant with the microarray results. The

  9. The prenatal roots of music

    Directory of Open Access Journals (Sweden)

    David Ernest Teie

    2016-08-01

    Full Text Available Although the idea that pulse in music may be related to human pulse is ancient and has recently been promoted by researchers (Parncutt, 2006; Snowdon & Teie, 2010, there has been no ordered delineation of the characteristics of music that are based on the sounds of the womb. I describe features of music that are based on sounds that are present in the womb: tempo of pulse (pulse is understood as the regular, underlying beat that defines the meter, amplitude contour of pulse, meter, musical notes, melodic frequency range, continuity, syllabic contour, melodic rhythm, melodic accents, phrase length, and phrase contour. There are a number of features of prenatal development that allow for the formation of long-term memories of the sounds of the womb in the areas of the brain that are responsible for emotions. Taken together, these features and the similarities between the sounds of the womb and the elemental building blocks of music allow for a postulation that the fetal acoustic environment may provide the bases for the fundamental musical elements that are found in the music of all cultures. This hypothesis is supported by a one-to-one matching of the universal features of music with the sounds of the womb: 1 all of the regularly heard sounds that are present in the fetal environment are represented in the music of every culture, and 2 all of the features of music that are present in the music of all cultures can be traced to the fetal environment.

  10. Biological effects of prenatal irradiation

    International Nuclear Information System (INIS)

    Streffer, Christian

    1997-01-01

    After large releases of radionuclides, exposure of the embryo or fetus can take place by external irradiation or uptake of radionuclies. The embryo and fetus are radiosensitive throughout prenatal development. The quality and extent of radiation effects depend on the development stage. During the preimplantation period (one to 10 days postconception, p.c.) a radiation exposure of at least 0.2 Gy can cause the death of the embryo. Malformations are only observed in rare cases when genetic predisposition exist. Macroscopic, anatomical malformations are induced only after irradiation during the major organogenesis (two to eight weeks p.c.). A radiation dose of about 0.2 Gy is a doubling dose for the malformation risks as extrapolated from experiments with rodents. The human embryo may be more radioresistant. During early fetogenesis (8-15 weeks p.c.) a high radiosensitivity exists for the developmental of the brain. Radiation doses of 1.0 Gy cause severe mental retardation in about 40% of the exposed fetuses. It must be taken into account that a radiation exposure during the fetal period can also induce cancer. It is generally assumed that the risk exists at about the same level as for children. (Author)

  11. Diagnosing night sweats.

    Science.gov (United States)

    Viera, Anthon J; Bond, Michael M; Yates, Scott W

    2003-03-01

    Night sweats are a common outpatient complaint, yet literature on the subject is scarce. Tuberculosis and lymphoma are diseases in which night sweats are a dominant symptom, but these are infrequently found to be the cause of night sweats in modern practice. While these diseases remain important diagnostic considerations in patients with night sweats, other diagnoses to consider include human immunodeficiency virus, gastroesophageal reflux disease, obstructive sleep apnea, hyperthyroidism, hypoglycemia, and several less common diseases. Antihypertensives, antipyretics, other medications, and drugs of abuse such as alcohol and heroin may cause night sweats. Serious causes of night sweats can be excluded with a thorough history, physical examination, and directed laboratory and radiographic studies. If a history and physical do not reveal a possible diagnosis, physicians should consider a purified protein derivative, complete blood count, human immunodeficiency virus test, thyroid-stimulating hormone test, erythrocyte sedimentation rate evaluation, chest radiograph, and possibly chest and abdominal computed tomographic scans and bone marrow biopsy.

  12. Diagnosable structured logic array

    Science.gov (United States)

    Whitaker, Sterling (Inventor); Miles, Lowell (Inventor); Gambles, Jody (Inventor); Maki, Gary K. (Inventor)

    2009-01-01

    A diagnosable structured logic array and associated process is provided. A base cell structure is provided comprising a logic unit comprising a plurality of input nodes, a plurality of selection nodes, and an output node, a plurality of switches coupled to the selection nodes, where the switches comprises a plurality of input lines, a selection line and an output line, a memory cell coupled to the output node, and a test address bus and a program control bus coupled to the plurality of input lines and the selection line of the plurality of switches. A state on each of the plurality of input nodes is verifiably loaded and read from the memory cell. A trusted memory block is provided. The associated process is provided for testing and verifying a plurality of truth table inputs of the logic unit.

  13. Diagnosing Dementia—Positive Signs

    Science.gov (United States)

    ... Navigation Bar Home Current Issue Past Issues Diagnosing Dementia—Positive Signs Past Issues / Fall 2007 Table of ... easy, affordable blood test that could accurately diagnose Alzheimer's disease (AD)—even before symptoms began to show? Researchers ...

  14. [Cytogenetic features of teenage girls with secondary amenorrhea].

    Science.gov (United States)

    Nachetova, T A; Nefidova, V E

    2014-11-01

    Some features of the chromosome apparatus status were studied in 25 adolescent girls, aged 14-18, with secondary amenorrhea and in 29 girls of the same age with a regular menstrual cycle. Materials for cytogenetic analysis were preparations of chromosomes at the stage of metaphase obtained from the culture of the peripheral blood lymphocytes. The technique of the culture preparation was carried out according to the standard method. 2225 metaphase plates were analyzed in girls with secondary amenorrhea, and 2603 plates were tested in their healthy age-mates. An increased total level of chromosomal aberrations and a rise in the frequency of disorders in the chromatid, chromosome and genome types of peripheral blood lymphocytes have been registered in the examined persons as compared with their healthy age-mates. We have shown, that polyploid cell registered in 15 times oftener in adolescent girls with SA as compared with healthy girls. It can be assumed that some marked changes in the frequency of chromosomal aberrations in patients with secondary amenorrhea and in their healthy age-mates may arise both as a result of exposure to the multiple environmental factors and disorders of rather complicated processes of DNA damages reparation.

  15. Cytogenetic study of Philippine guppy (Lebistes reticulatus Peters)

    International Nuclear Information System (INIS)

    Gregorio, J.S.

    1982-06-01

    One means of evaluating the hazards caused by radioactivity on the genomes of aquatic organisms is to screen the exposed cells for chromosome aberrations. Since fish comprise the majority of aquatic organisms, it will be very interesting to prepare and establish a baseline study of the chromosome numbers of this species. The Philippine guppy (Lebistes reticulatus Peter) collected from the different sampling areas were studied using the gill epithelial cells. These were studied to determine the chromosome number and the fundamental number of the species; to study the chromosome morphology and its karyotype. Cytogenetic techniques were used to analyze the chromosomes of the guppy. Of the karyotypes seen, it was concluded that the guppies collected from the three areas show no considerable differences. Apparently, no chromosomal abnormalities were seen in the cells analyzed. The karyotype was constructed to illustrate the chromosome morphology of the guppy. This constructed karyotype of the guppy can be used as a model for determining chromosome aberration effects on the component of the aquatic ecosystems. (author)

  16. Molecular cytogenetic characterization of a human thyroid cancercell line

    Energy Technology Data Exchange (ETDEWEB)

    Weier, Heinz-Ulrich G.; Tuton, Tiffany B.; Ito, Yuko; Chu, LisaW.; Lu, Chung-Mei; Baumgartner, Adolf; Zitzelsberger, Horst F.; Weier,Jingly F.

    2006-01-04

    The incidence of papillary thyroid carcinoma (PTC) increases significantly after exposure of the head and neck region to ionizing radiation, yet we know neither the steps involved in malignant transformation of thyroid epithelium nor the specific carcinogenic mode of action of radiation. Such increased tumor frequency became most evident in children after the 1986 nuclear accident in Chernobyl, Ukraine. In the twelve years following the accident, the average incidence of childhood PTCs (chPTC) increased over one hundred-fold compared to the rate of about 1 tumor incidence per 10{sup 6} children per year prior to 1986. To study the etiology of radiation-induced thyroid cancer, we formed an international consortium to investigate chromosomal changes and altered gene expression in cases of post-Chernobyl chPTC. Our approach is based on karyotyping of primary cultures established from chPTC specimens, establishment of cell lines and studies of genotype-phenotype relationships through high resolution chromosome analysis, DNA/cDNA micro-array studies, and mouse xenografts that test for tumorigenicity. Here, we report the application of fluorescence in situ hybridization (FISH)-based techniques for the molecular cytogenetic characterization of a highly tumorigenic chPTC cell line, S48TK, and its subclones. Using chromosome 9 rearrangements as an example, we describe a new approach termed ''BAC-FISH'' to rapidly delineate chromosomal breakpoints, an important step towards a better understanding of the formation of translocations and their functional consequences.

  17. Recent experience in applying the cytogenetic dosimetry assay

    Energy Technology Data Exchange (ETDEWEB)

    Khvostunov, I.K., E-mail: 726727@mrrc.obninsk.ru [Medical Radiological Research Centre, Koroliov Str. 4, Obninsk, Kaluga Region, 249036 (Russian Federation); Sevan' kaev, A.V. [Medical Radiological Research Centre, Koroliov Str. 4, Obninsk, Kaluga Region, 249036 (Russian Federation); Lloyd, D.C. [Health Protection Agency, Centre for Radiation, Chemical and Environmental Hazards, Chilton, Didcot, Oxfordshire (United Kingdom); Nugis, V.Yu. [Burnasyan Federal Medical Biophysical Center of the Federal Medical Biological Agency, Marshala Novikova Str., 23, Moscow (Russian Federation); Voisin, P. [Institute for Radiation Protection and Nuclear Safety, SRBE, B.P. 17, 92262 Fontenay-aux-Roses Cedex (France)

    2011-09-15

    This paper considers how well standard calibration curve for translocations constructed for lymphocyte cultures irradiated in vitro with gamma-rays from {sup 60}Co compares with the translocations yield in lymphocytes taken from people at a long post-exposure time. Data were used from radiation accident victims overexposed to doses ranging from 0.2 to 8.5 Gy and who were cytogenetically followed-up for various times upto 50 y. Their cultured lymphocytes had been scored both by the conventional dicentric method and by FISH for all translocations involving painted chromosomes (2, 3, 8); (2, 3, 5) or (2, 4, 12). The in vivo dose response relationship was derived by fitting translocation frequencies to the contemporary individual doses obtained independently and confirmed by different biological assays and physical dosimetry. A comparison with the conventional in vitro curve indicates reductions of translocation frequencies with increasing time which would prejudice retrospective dose assessment by FISH. This has led to the possibility to amend the in vitro dose response curve for translocations to make it more suitable for use in retrospective biodosimetry. This approach for retrospective biodosimetry therefore uses a dose response relationship based on truly persisting translocations.

  18. Cytogenetic and molecular profile of endometrial stromal sarcoma.

    Science.gov (United States)

    Micci, Francesca; Gorunova, Ludmila; Agostini, Antonio; Johannessen, Lene E; Brunetti, Marta; Davidson, Ben; Heim, Sverre; Panagopoulos, Ioannis

    2016-11-01

    Recent cytogenetic and molecular investigations have improved our understanding of endometrial stromal tumors, including sarcomas (ESS), and helped redefine their classification into more pathogenetically meaningful categories. Because much more can be gained through such studies, we add information on another 22 ESS examined by karyotyping, PCR analysis, expression array analysis, and transcriptome sequencing. In spite of the known preference for certain pathogenetic pathways, we found considerable genetic heterogeneity in high-grade (HG) as well as in low-grade (LG) ESS. Not all HG tumors showed a YWHAE-NUTM chimeric transcript and as many as six LGESS showed no hitherto known ESS-related fusions. Among the transcripts identified by transcriptome sequencing and verified by Sanger sequencing, new variants of ZC3H7-BCOR and its reciprocal BCOR-ZC3H7 were identified as was involvement of the CREBBP and MLLT4 genes (both well known leukemia-related genes) in two new fusions. FISH analysis identified a known EPC1-PHF1 fusion which led to the identification of a new variant at the molecular level. The fact that around 70 genes were found differentially expressed, by microarray analysis, when comparing LGESS showing ESS-related fusions with LGESS without such transcripts, underscores the biochemical importance of the observed genetic heterogeneity and hints that new subgroups/entities in LGESS still remain undiscovered. © 2016 The Authors. Genes, Chromosomes & Cancer Published by Wiley Periodicals, Inc. © 2016 The Authors. Genes, Chromosomes & Cancer Published by Wiley Periodicals, Inc.

  19. Characterization of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) in Shanghai, China: molecular and cytogenetic characteristics, IgV gene restriction and hypermutation patterns.

    Science.gov (United States)

    Irons, Richard D; Le, Anh; Bao, Liming; Zhu, Xiongzeng; Ryder, John; Wang, Xiao Qin; Ji, Meirong; Chen, Yan; Wu, Xichun; Lin, Guowei

    2009-12-01

    The clinical, cytogenetic and molecular features of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL), a disease previously considered to be rare in Asia, were examined in consecutive series of 70 cases diagnosed by our laboratory over a 30-month period. Clonal abnormalities were observed in 80% of CLL/SLL cases using a combination of conventional cytogenetic and fluorescence in situ hybridization (FISH) analysis. Those involving 14q32/IGH were the most frequent (24 cases), followed by trisomy 12 and 11q abnormalities. IgV(H) gene usage was non-random with over-representation of V(H)4-34, V(H)3-23 and a previously unreported increase in V(H)3-48 gene use. Somatic hypermutation (SHM) of IgV(H) germline sequences was observed in 56.5% of cases with stereotyped patterns of SHM observed in V(H)4-34 heavy chain complimentary-determining (HCDR1) and framework region CFR2 sequences. These findings in a Chinese population suggest subtle geographical differences in IgV(H) gene usage while the remarkably specific pattern of SHM suggest that a relatively limited set of antigens may be involved in the development of this disease worldwide. IgV(H) gene mutation status was a significant predictor of initial survival in CLL/SLL. However, an influence of karyotype on prognosis was not observed.

  20. Genetic effects in children exposed in prenatal period to ionizing radiation after the Chornobyl nuclear power plant accident.

    Science.gov (United States)

    Stepanova, Ye I; Vdovenko, V Yu; Misharina, Zh A; Kolos, V I; Mischenko, L P

    2016-12-01

    To study the genetic effects in children exposed to radiation in utero as a result of the Chornobyl nuclear power plant accident accounting the total radiation doses and equivalent radiation doses to the red bone marrow. Incidence of minor developmental anomalies was studied in children exposed to radiation in utero (study group) and in the control group (1144 subjects surveyed in total). Cytogenetic tests using the method of differential G-banding of chromosomes were conducted in 60 children of both study and control groups (10-12-year-olds) and repeatedly in 39 adolescents (15-17-year-olds). A direct correlation was found between the number of minor developmental anomalies and fetal dose of radiation, and a reverse one with fetal gestational age at the time of radiation exposure. Incidence of chromosomal damage in somatic cells of 10-12-year-old children exposed prenatally was associated with radiation dose to the red bone marrow. The repeated testing has revealed that an increased level of chromosomal aberrations was preserved in a third of adolescents. The persons exposed to ionizing radiation at prenatal period should be attributed to the group of carcinogenic risk due to persisting increased levels of chromosome damage. This article is a part of a Special Issue entitled "The Chornobyl Nuclear Accident: Thirty Years After".

  1. Undifferentiated myxoid lipoblastoma with PLAG1-HAS2 fusion in an infant; morphologically mimicking primitive myxoid mesenchymal tumor of infancy (PMMTI)--diagnostic importance of cytogenetic and molecular testing and literature review.

    Science.gov (United States)

    Warren, Mikako; Turpin, Brian K; Mark, Melissa; Smolarek, Teresa A; Li, Xia

    2016-01-01

    Lipoblastoma is a benign myxoid neoplasm arising in young children that typically demonstrates adipose differentiation. It is often morphologically indistinguishable from primitive myxoid mesenchymal tumor of infancy (PMMTI), which is characterized by a well-circumscribed myxoid mass with a proliferation of primitive mesenchymal cells with mild cytologic atypia. PMMTI occurs in the first year of life and is known to have locally aggressive behavior. No specific genetic rearrangements have been reported to date. In contrast, the presence of PLAG1 (Pleomorphic Adenoma Gene 1) rearrangement is diagnostic for lipoblastoma. We hereby demonstrate the combined application of multiple approaches to tackle the diagnostic challenges of a rapidly growing neck tumor in a 3-month-old female. An incisional tumor biopsy had features of an undifferentiated, myxoid mesenchymal neoplasm mimicking PMMTI. However, tumor cells showed diffuse nuclear expression by immunohistochemical (IHC) stain. Conventional cytogenetic and fluorescence in situ hybridization (FISH) analyses as well as next generation sequencing (NGS) demonstrated evidence of PLAG1 rearrangement, confirming the diagnosis of lipoblastoma. This experience warrants that undifferentiated myxoid lipoblastoma can mimic PMMTI, and the combination of cytogenetic and molecular approaches is essential to distinguish these two myxoid neoplasms. Literature on lipoblastomas with relevant molecular and cytogenetic findings is summarized. Our case is the first lipoblastoma diagnosed with a PLAG1 fusion defined by NGS technology. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. [Prenatal diagnosis and treatment of fetal choroid plexus cysts].

    Science.gov (United States)

    Liang, Mei-Ying; Wang, Hong-Bin; Huang, Xin; Wei, Yan-Qiu

    2007-09-01

    To discuss the clinical management and significance of the prenatal diagnosis of Fetal Choroid Plexus Cysts (CPC). From May 2004 to March 2007, 55 cases of fetal CPC diagnosed by B-ultrasound during second trimester were prospectively studied. Each case was studied regarding fetal chromosome karyotype, disappearance weeks of the cyst, the clinical outcome and follow-up results respectively. The cases were diagnosed during 16 - 25 gestational weeks. The diameters of the cysts varied from 0.2 cm to 2.4 cm. There were 25 cases of bilateral cysts and 30 cases of unilateral or 50 cases of isolated CPC and 5 cases of complicated CPC. The cysts of all cases who continued pregnancy disappeared before 28 weeks. Fetal chromosome karyotypes were obtained in 50 cases. Among them, two cases were 18-trisomy, and one case was 21-trisomy. Five cases were terminated pregnancy because of abnormal chromosome karyotype or malformation during second trimester. One neonate was diagnosed as ventricular septal defect among 50 cases of follow up. Among these six cases, three were from advanced-age pregnant women, five cases were with abnormal fetal structure and five cases were with the diameter of bilateral or unilateral cysts more than 1.0 cm. (1) Fetal CPC can be diagnosed during second trimester, and the majority disappear before 28 gestational weeks. (2) High risk factors for fetal abnormal chromosome karyotype may be: advanced-age pregnant women, abnormal structure of fetus, and the diameter of bilateral or unilateral cyst more than 1.0 cm. It is suggested that fetal CPC with the high risks should receive fetal chromosome karyotype test during pregnancy.

  3. Disorganized Cortical Patches Suggest Prenatal Origin of Autism

    Science.gov (United States)

    ... 2014 Disorganized cortical patches suggest prenatal origin of autism NIH-funded study shows disrupted cell layering process ... study suggests that brain irregularities in children with autism can be traced back to prenatal development. “While ...

  4. Informed consent: attitudes, knowledge and information concerning prenatal examination

    DEFF Research Database (Denmark)

    Dahl, Katja; Kesmodel, Ulrik; hvidman, lone

    2006-01-01

    Background: Providing women with information enabling an informed consent to prenatal examinations has been widely recommended. Objective: The primary purpose of this review is to summarise current knowledge of the pregnant woman's expectations and attitudes concerning prenatal examinations, as w...

  5. Medicaid reimbursement, prenatal care and infant health.

    Science.gov (United States)

    Sonchak, Lyudmyla

    2015-12-01

    This paper evaluates the impact of state-level Medicaid reimbursement rates for obstetric care on prenatal care utilization across demographic groups. It also uses these rates as an instrumental variable to assess the importance of prenatal care on birth weight. The analysis is conducted using a unique dataset of Medicaid reimbursement rates and 2001-2010 Vital Statistics Natality data. Conditional on county fixed effects, the study finds a modest, but statistically significant positive relationship between Medicaid reimbursement rates and the number of prenatal visits obtained by pregnant women. Additionally, higher rates are associated with an increase in the probability of obtaining adequate care, as well as a reduction in the incidence of going without any prenatal care. However, the effect of an additional prenatal visit on birth weight is virtually zero for black disadvantaged mothers, while an additional visit yields a substantial increase in birth weight of over 20 g for white disadvantaged mothers. Copyright © 2015 Elsevier B.V. All rights reserved.

  6. Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature.

    Science.gov (United States)

    Esmer, Aytul Corbacioglu; Sivrikoz, Tugba Sarac; Gulec, Elif Yilmaz; Sezer, Salim; Kalelioglu, Ibrahim; Has, Recep; Yuksel, Atil

    2016-10-01

    Persistent hyperplastic primary vitreous is a spectrum of congenital ocular abnormalities characterized by leukocoria, microphthalmia, cataracts, extensive intravitreal hemorrhage, persistence of the hyaloid artery, glaucoma, and retinal detachment. It might be isolated or associated with congenital syndromes such as trisomy 13, Walker-Warburg syndrome, and Norrie disease. We present 2 cases of persistent hyperplastic primary vitreous diagnosed by prenatal sonography in the early third trimester. Bilateral hyperechoic lenses and retinal nonattachment were detected in the sonographic examination of the first case, whereas irregular echogenic bands between the lenses and posterior walls of the eyes were prominent in the second case. In both of the cases, ocular findings were accompanied by intracranial findings, including severe hydrocephalus, an abnormal gyral pattern, and cerebellar hypoplasia, suggesting the diagnosis of Walker-Warburg syndrome. We also present a review of the literature regarding the prenatal diagnosis of this malformation.

  7. Prenatal diagnosis of Wolf-Hirschhorn syndrome: Ultrasonography and molecular karyotyping results.

    Science.gov (United States)

    Zhen, Li; Fan, Shu-Shu; Huang, Lv-Yin; Pan, Min; Han, Jin; Yang, Xin; Li, Dong-Zhi

    2018-03-31

    To present the experience on prenatal diagnosis of Wolf-Hirschhorn syndrome (WHS) to further delineate the fetal presentation of this syndrome. This was a retrospective analysis of ten pregnancies with fetal WHS identified by chromosomal microarray (CMA). Clinical data were reviewed for these cases, including maternal demographics, indications for invasive testing, sonographic findings, CMA results and pregnancy outcomes. Three cases were diagnosed at the first trimester because of an increased NT or cystic hygroma. The remaining seven cases were identified at late gestation for abnormal ultrasound findings. CMA revealed 4p deletions to be terminal in all of the ten cases. Deletion sizes ranged from 2.05 to 19.02 Mb. Prenatal findings such as increased NT, severe and early onset intrauterine growth retardation, and renal dysplasia or oligohydramnios should warrant the diagnosis of WHS and invasive testing using CMA. Copyright © 2018 Elsevier B.V. All rights reserved.

  8. Prenatal and Postnatal Medical Conditions and the Risk of Brain Tumors in Children and Adolescents

    DEFF Research Database (Denmark)

    Tettamanti, Giorgio; Shu, Xiaochen; Adel Fahmideh, Maral

    2017-01-01

    BACKGROUND: Previous studies have evaluated the effect of medical diagnostic radiation on brain tumors. Recent cohort studies have reported an increased risk associated with exposure to head CT scans. METHODS: Information regarding medical conditions, including prenatal and postnatal exposure...... to medical diagnostic radiation, was obtained from CEFALO, a multicenter case-control study performed in Denmark, Norway, Sweden, and Switzerland through face-to-face interview. Eligible cases of childhood and adolescent brain tumors (CABT) were ages 7 to 19 years, diagnosed between January 1, 2004...... and August 31, 2008, and living in the participating countries (n = 352). The cases were matched by age, sex, and region to 646 population-based controls. RESULTS: Prenatal exposure to medical diagnostic radiation and postnatal exposure to X-rays were not associated with CABTs. A higher risk estimate...

  9. Prenatal Isolated Ventricular Septal Defect May Not Be Associated with Trisomy 21

    Directory of Open Access Journals (Sweden)

    Ori Shen

    2014-04-01

    Full Text Available The aim of this study was to examine if isolated fetal ventricular septal defect (VSD is associated with trisomy 21. One hundred twenty six cases with prenatal VSD diagnosed by a pediatric cardiologist were reviewed. Cases with known risk factors for congenital heart disease, the presence of other major anomalies, soft signs for trisomy 21 or a positive screen test for trisomy 21 were excluded. Ninety two cases formed the study group. None of the cases in the study group had trisomy 21. The upper limit of prevalence for trisomy 21 in isolated VSD is 3%. When prenatal VSD is not associated with other major anomalies, soft markers for trisomy 21 or a positive nuchal translucency or biochemical screen, a decision whether to perform genetic amniocentesis should be individualized. The currently unknown association between isolated VSD and microdeletions and microduplications should be considered when discussing this option.

  10. [Prenatal diagnosis at 25 weeks gestation and neonatal management of a vallecular cyst].

    Science.gov (United States)

    Cuillier, F; Testud, R; Samperiz, S; Fossati, P

    2002-11-01

    Due to the anatomical location, vallecular cyst is a rare but well-recognized cause of upper airway obstruction and death in newborn. This cyst can be accurately diagnosed by echography in utero and by MR imaging. Prenatal diagnosis allows for early consultation with surgical specialist, so that the time and place of the delivery can be addressed for neonatal preoperative planning. We report the first prenatal diagnosis of a vallecular cyst at 25 weeks of gestation. At birth, the cyst was drained and then marsupialized. We believed that, in cases of oropharyngeal tumors discovered in utero, elective delivery should be realised in a tertiary referral center in which emergency ventilation and tracheostomy are possible.

  11. Cytogenetic studies of 1232 patients with different sexual development abnormalities from the Sultanate of Oman.

    Science.gov (United States)

    Al-Alawi, Intisar; Goud, Tadakal Mallana; Al-Harasi, Salma; Rajab, Anna

    2016-02-01

    The aim of this study was to evaluate cytogenetic findings in Omani patients who had been referred for suspicion of sex chromosome abnormalities that resulted in different clinical disorders. Furthermore, it sought to examine the frequency of chromosomal anomalies in these patients and to compare the obtained results with those reported elsewhere. Cytogenetic analysis was performed on 1232 cases with variant characteristics of sexual development disorders who had been referred to the cytogenetic department, National Genetic Centre, Ministry of Health, from different hospitals in the Sultanate of Oman between 1999 and 2014. The karyotype results demonstrated chromosomal anomalies in 24.2% of the cases, where 67.5% of abnormalities were identified in referral females, whereas only 32.6% were in referral males. Of all sex chromosome anomalies detected, Turner syndrome was the most frequent (38.2%) followed by Klinefelter syndrome (24.9%) and XY phenotypic females (16%). XXX syndrome and XX phenotypic males represented 6.8% and 3.8% of all sex chromosome anomalies, respectively. Cytogenetic analysis of patients referred with various clinical suspicions of chromosomal abnormalities revealed a high rate of chromosomal anomalies. This is the first broad cytogenetic study reporting combined frequencies of sex chromosome anomalies in sex development disorders in Oman. Copyright © 2015 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

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

    NARCIS (Netherlands)

    P.J.P. de Vree (Paula); M.E.H. Simon (Marleen); M.F. van Dooren (Marieke); G.H.T. Stoevelaar (Gerda); J.T.W. Hilkmann (José); M.A. Rongen (Michel); G.C.M. Huijbregts (Gido); A.J.H.M. Verkerk (Annemieke); P. Poddighe (Pino)

    2009-01-01

    textabstractBackground. 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

  13. The accuracy of 2D ultrasound prenatal sex determination ...

    African Journals Online (AJOL)

    Most of the women were happy even when the sex differed from that which they desired. Conclusion: Prenatal sonographic sex determination has a high sensitivity index. Consequently we advocate its use prior to more invasive sex tests. Keywords: Accuracy, gender determination, prenatal gender, prenatal sex, sex ...

  14. Empowering Women's Prenatal Communication: Does Literacy Matter?

    Science.gov (United States)

    Roter, Debra L; Erby, Lori H; Rimal, Rajiv N; Smith, Katherine C; Larson, Susan; Bennett, Ian M; Cole, Katie Washington; Guan, Yue; Molloy, Matthew; Bienstock, Jessica

    2015-01-01

    This study was designed to evaluate the impact of an interactive computer program developed to empower prenatal communication among women with restricted literacy skills. A total of 83 women seeing 17 clinicians were randomized to a computer-based communication activation intervention (Healthy Babies Healthy Moms [HBHM]) or prenatal education (Baby Basics [BB]) prior to their prenatal visit. Visit communication was coded with the Roter Interaction Analysis System, and postvisit satisfaction was reported. Participants were on average 24 years of age and 25 weeks pregnant; 80% were African American. Two thirds scored ≤8th grade on a literacy screener. Women with literacy deficits were more verbally active, disclosed more medical and psychosocial/lifestyle information, and were rated as more dominant by coders in the HBHM group relative to their counterparts in the BB group (all ps literacy in the HBHM relative to the BB group (p literacy deficits. Satisfaction, however, tended to be lower for these women.

  15. Prenatal diagnosis of congenital paraesophageal hiatal hernia

    Directory of Open Access Journals (Sweden)

    Min Jeng Cho

    2018-05-01

    Full Text Available Abstracts: Congenital paraesophageal hiatal hernia (CPEH is a rare condition. CPEH can cause important clinical problems such as gastric volvulus, hematemesis, vomiting, failure to thrive, and respiratory distress, it requires early diagnosis and prompt surgical treatment. In this paper, we describe a case of CPEH that was suspected in a prenatal ultrasound. Postnatal upper gastrointestinal contrast series confirmed a CPEH with intrathoracic gastric volvulus. An emergency operation was performed. The stomach was reduced, the hiatal defect was repaired by crural approximation, and a Nissen fundoplication was done. The prenatal diagnosis of CPEH is unusual, but prenatal detection is important because it allows planned neonatal surgery before the onset of complications and reduces long-term morbidity. Keywords: Congenital paraesophageal hiatal hernia, Antenatal diagnosis, Gastric volvulus

  16. Prenatal diagnosis of lissencephaly: A case report

    Directory of Open Access Journals (Sweden)

    Cerovac Nataša

    2016-01-01

    Full Text Available Introduction. Lissencephaly (“smooth brain” forms a major group of brain malformations due to abnormal neuronal migration. It can cause severe intellectual and motor disability and epilepsy in children. The prenatal diagnosis of this malformation is rare. Case report. We presented a case of the prenatal diagnosis of lissencephaly. A 30-year old pregnant woman was reffered to the hospital at the week 35 of gestation for magnetic resonance imaging (MRI after an ultrasound examination demonstrated fetal cerebral ventriculomegaly. Fetal MRI of the brain showed “smooth”, agyrya cortex. The female infant was born at term with birth weight of 2,500 g and Apgar score 8, showing global developmental delay. Postnatal ultrasound and MRI confirmed classical lissencephaly. She is now 8 years old and has spastic quadriparesis, mental retardation and epilepsy. Conclusion. Confirmation of the ultrasound diagnosis with MRI is desirable for the prenatal diagnosis of lissencephaly.

  17. Prenatal magnetic resonance and ultrasonographic findings in small-bowel obstruction: imaging clues and postnatal outcomes

    Energy Technology Data Exchange (ETDEWEB)

    Rubio, Eva I.; Blask, Anna R.; Bulas, Dorothy I. [Children' s National Medical System, Division of Diagnostic Imaging and Radiology, Washington, DC (United States); Badillo, Andrea T. [Children' s National Medical System, Division of General and Thoracic Surgery, Washington, DC (United States)

    2017-04-15

    Prenatal small-bowel obstruction can result from single or multiple atresias, and it can be an isolated abnormality or part of a syndrome. It is sometimes the first manifestation of cystic fibrosis. Accurate prediction of the level of obstruction and length of bowel affected can be difficult, presenting a challenge for counseling families and planning perinatal management. To review the prenatal US and MRI findings of small-bowel obstruction and to assess whether fetal MRI adds information that could improve prenatal counseling and perinatal management. We retrospectively reviewed 12 prenatally diagnosed cases of small-bowel obstruction evaluated by both US and MRI from 2005 to 2015. We analyzed gestational age at evaluation, US and MRI findings, gestational age at delivery and postnatal outcomes. The final diagnoses were jejunal atresia (7), ileal atresia (1), cystic fibrosis (3) and combined jejunal and anal atresia (1). Four of the eight with jejunal atresia were found to have multiple small-bowel atresias. Prenatal perforation was noted in three. We identified a trend of increasing complexity of bowel contents corresponding to progressively distal level of obstruction, as indicated by increasing US echogenicity and high T1 signal on MRI. Seven cases of jejunal atresia and one case of ileal atresia demonstrated small ascending, transverse and descending colon (microcolon) with filling of a normal-diameter rectum. In contrast, all three fetuses with cystic fibrosis and the fetus with jejunal-anal atresia demonstrated microcolon as well as abnormal paucity or absence of rectal meconium. Polyhydramnios was present in nine. Eight were delivered prematurely, of whom seven had polyhydramnios. The fetus with jejunal and anal atresia died in utero. Postnatally, three had short gut syndrome, all resulting from multiple jejunal atresias; these three were among a subset of four fetuses whose bowel diameter measured more than 3 cm. Eight infants had no further

  18. Prenatal magnetic resonance and ultrasonographic findings in small-bowel obstruction: imaging clues and postnatal outcomes

    International Nuclear Information System (INIS)

    Rubio, Eva I.; Blask, Anna R.; Bulas, Dorothy I.; Badillo, Andrea T.

    2017-01-01

    Prenatal small-bowel obstruction can result from single or multiple atresias, and it can be an isolated abnormality or part of a syndrome. It is sometimes the first manifestation of cystic fibrosis. Accurate prediction of the level of obstruction and length of bowel affected can be difficult, presenting a challenge for counseling families and planning perinatal management. To review the prenatal US and MRI findings of small-bowel obstruction and to assess whether fetal MRI adds information that could improve prenatal counseling and perinatal management. We retrospectively reviewed 12 prenatally diagnosed cases of small-bowel obstruction evaluated by both US and MRI from 2005 to 2015. We analyzed gestational age at evaluation, US and MRI findings, gestational age at delivery and postnatal outcomes. The final diagnoses were jejunal atresia (7), ileal atresia (1), cystic fibrosis (3) and combined jejunal and anal atresia (1). Four of the eight with jejunal atresia were found to have multiple small-bowel atresias. Prenatal perforation was noted in three. We identified a trend of increasing complexity of bowel contents corresponding to progressively distal level of obstruction, as indicated by increasing US echogenicity and high T1 signal on MRI. Seven cases of jejunal atresia and one case of ileal atresia demonstrated small ascending, transverse and descending colon (microcolon) with filling of a normal-diameter rectum. In contrast, all three fetuses with cystic fibrosis and the fetus with jejunal-anal atresia demonstrated microcolon as well as abnormal paucity or absence of rectal meconium. Polyhydramnios was present in nine. Eight were delivered prematurely, of whom seven had polyhydramnios. The fetus with jejunal and anal atresia died in utero. Postnatally, three had short gut syndrome, all resulting from multiple jejunal atresias; these three were among a subset of four fetuses whose bowel diameter measured more than 3 cm. Eight infants had no further

  19. Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect

    Directory of Open Access Journals (Sweden)

    Srebniak Malgorzata I

    2011-12-01

    Full Text Available Abstract Background Recent development of MLPA (Multiplex-Ligation-dependent Probe Amplification, MRC-Holland and microarray technology allows detection of a wide range of new submicroscopic abnormalities. Publishing new cases and case reviews associated with both clinical abnormalities and a normal phenotype is of great value. Findings/results We report on two phenotypically normal foetuses carrying a maternally-inherited interstitial submicroscopic abnormality of chromosome 18p11.32. Both abnormalities were found with the aneuploidy MLPA kit P095 during rapid aneuploidy detection, which was offered along with conventional karyotyping. Foetus 1 and its mother have a 1,7 Mb deletion and foetus 2 and its mother have a 1,9 Mb duplication. In both cases normal babies were born. We used the HumanCytoSNP-12 array of Illumina to visualize the CNVs and map the breakpoints. Conclusions We suggest that a CNV at 18p11.32 (528,050-2,337,486 may represent a new benign euchromatic variant.

  20. Targeted Gene Sequencing and Whole-Exome Sequencing in Autopsied Fetuses with Prenatally Diagnosed Kidney Anomalies

    DEFF Research Database (Denmark)

    Rasmussen, M; Sunde, L; Nielsen, M L

    2018-01-01

    Identification of fetal kidney anomalies invites questions about underlying causes and recurrence risk in future pregnancies. We therefore investigated the diagnostic yield of next-generation sequencing in fetuses with bilateral kidney anomalies and the correlation between disrupted genes and fetal...... phenotypes. Fetuses with bilateral kidney anomalies were screened using an in-house-designed kidney-gene panel. In families where candidate variants were not identified, whole-exome sequencing was performed. Genes uncovered by this analysis were added to our kidney-panel. We identified likely deleterious...... of nephronophthisis. Exome sequencing identified ROBO1 variants in one family and a GREB1L variant in another family. GREB1L and ROBO1 were added to our kidney-gene panel and additional variants were identified. Next-generation sequencing substantially contributes to identifying causes of fetal kidney anomalies...

  1. Prenatal ultrasound findings of fetal neoplasms

    International Nuclear Information System (INIS)

    Lee, Soo Hyun; Cho, Jeong Yeon; Song, Mi Jin; Min, Jee Yeon; Han, Byoung Hee; Lee, Young Ho; Cho, Byung Jae; Kim, Seung Hyup

    2002-01-01

    A variety of neoplasms can develop in each tetal organ. Most fetal neoplasms can be detected by careful prenatal ultrasonographic examination. Some neoplosms show specific ultrasonographic findings suggesting the differential diagnosis, but others do not. Knowledge of the presence of a neoplasm in the fetus may alter the prenatal management of a pregnancy and the mode of delivery, and facilitates immediate postnatal treatment. During the last five years, we experienced 32 cases of fetal neoplasms in a variety of organs. We describe their typical and ultrasonographic findings with correlating postnatal CT, MRI, and pathologic findings

  2. The human brain. Prenatal development and structure

    International Nuclear Information System (INIS)

    Marin-Padilla, Miguel

    2011-01-01

    This book is unique among the current literature in that it systematically documents the prenatal structural development of the human brain. It is based on lifelong study using essentially a single staining procedure, the classic rapid Golgi procedure, which ensures an unusual and desirable uniformity in the observations. The book is amply illustrated with 81 large, high-quality color photomicrographs never previously reproduced. These photomicrographs, obtained at 6, 7, 11, 15, 18, 20, 25, 30, 35, and 40 weeks of gestation, offer a fascinating insight into the sequential prenatal development of neurons, blood vessels, and glia in the human brain. (orig.)

  3. The human brain. Prenatal development and structure

    Energy Technology Data Exchange (ETDEWEB)

    Marin-Padilla, Miguel

    2011-07-01

    This book is unique among the current literature in that it systematically documents the prenatal structural development of the human brain. It is based on lifelong study using essentially a single staining procedure, the classic rapid Golgi procedure, which ensures an unusual and desirable uniformity in the observations. The book is amply illustrated with 81 large, high-quality color photomicrographs never previously reproduced. These photomicrographs, obtained at 6, 7, 11, 15, 18, 20, 25, 30, 35, and 40 weeks of gestation, offer a fascinating insight into the sequential prenatal development of neurons, blood vessels, and glia in the human brain. (orig.)

  4. Translocation (16;20)(p11.2;q13). sole cytogenetic abnormality in a unicameral bone cyst.

    Science.gov (United States)

    Richkind, Kathleen E; Mortimer, Errol; Mowery-Rushton, Patricia; Fraire, Armando

    2002-09-01

    We report the results of cytogenetic analysis of a case of unicameral bone cyst with a t(16;20(p11.2;q13) present as the sole abnormality. To our knowledge, this is only the second report of a cytogenetically characterized tumor of this type.

  5. Cytogenetical effects of low doses: results obtained by N.N.Luchik and present-day problems

    International Nuclear Information System (INIS)

    Geras'kin, S.A.; Sevan'kaev, A.V.

    1996-01-01

    The analysis of present status of the problem of quantitative assessment of cytogenetic effects low is presented. The importance of works of N.V. Luchik is demonstrated for the development of this field of radiobiology. The results of the author's own experimental and theoretical research on the regularities of induction of cytogenetical damage by low doses of ionising radiation are presented

  6. Update on the Cytogenetics and Molecular Genetics of Chordoma

    Directory of Open Access Journals (Sweden)

    Larizza Lidia

    2005-02-01

    Full Text Available Abstract Chordoma is a rare mesenchymal tumour of complex biology for which only histologic and immunohistochemical criteria have been defined, but no biomarkers predicting the clinical outcome and response to treatment have yet been recognised. We herein review the interdisciplinary information achieved by epidemiologists, neurosurgeons and basic scientists on chordoma, usually a sporadic tumour, which also includes a small fraction of familial cases. Main focus is on the current knowledge of the genetic alterations which might pinpoint candidate genes and molecular mechanisms shared by sporadic and familiar chordomas. Due to the scarcity of the investigated tumour specimens and the multiple chromosome abnormalities found in tumours with aberrant karyotypes, conventional cytogenetics and Fluorescence In Situ Hybridization failed to detect recurrent chordoma-specific chromosomal rearrangements. Genome-wide approaches such as Comparative Genomic Hybridization (CGH are yet at an initial stage of application and should be implemented using BAC arrays either genome-wide or targeting selected genomic regions, disclosed by Loss of Heterozygosity (LOH studies. An LOH region was shown by a systematic study on a consistent number of chordomas to encompass 1p36, a genomic interval where a candidate gene was suggested to reside. Despite the rarity of multiplex families with chordoma impaired linkage studies, a chordoma locus could be mapped to chromosome 7q33 by positive lod score in three independent families. The role in chordomagenesis of the Tuberous Sclerosis Complex (TSC genes has been proved, but the extent of involvement of TSC1 and TSC2 oncosuppressors in chordoma remains to be assessed. In spite of the scarce knowledge on the genetics and molecular biology of chordoma, recent initiation of clinical trials using molecular-targeted therapy, should validate new molecular targets and predict the efficacy of a given therapy. Comparative genetic and

  7. Diagnosing suffering: a perspective.

    Science.gov (United States)

    Cassell, E J

    1999-10-05

    The alleviation of suffering is crucial in all of medicine, especially in the care of the dying. Suffering cannot be treated unless it is recognized and diagnosed. Suffering involves some symptom or process that threatens the patient because of fear, the meaning of the symptom, and concerns about the future. The meanings and the fear are personal and individual, so that even if two patients have the same symptoms, their suffering would be different. The complex techniques and methods that physicians usually use to make a diagnosis, however, are aimed at the body rather than the person. The diagnosis of suffering is therefore often missed, even in severe illness and even when it stares physicians in the face. A high index of suspicion must be maintained in the presence of serious disease, and patients must be directly questioned. Concerns over the discomfort of listening to patients' severe distress are usually more than offset by the gratification that follows the intervention. Often, questioning and attentive listening, which take little time, are in themselves ameliorative. The information on which the assessment of suffering is based is subjective; this may pose difficulties for physicians, who tend to value objective findings more highly and see a conflict between the two kinds of information. Recent advances in understanding how physicians increase the utility of information and make inferences allow one to reliably use the subjective information on which the diagnosis and treatment of suffering depend. Knowing patients as individual persons well enough to understand the origin of their suffering and ultimately its best treatment requires methods of empathic attentiveness and nondiscursive thinking that can be learned and taught. The relief of suffering depends on physicians acquiring these skills.

  8. Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening

    NARCIS (Netherlands)

    van Schendel, Rachèl V.; Kleinveld, Johanna H.; Dondorp, Wybo J.; Pajkrt, Eva; Timmermans, Danielle R. M.; Holtkamp, Kim C. A.; Karsten, Margreet; Vlietstra, Anne L.; Lachmeijer, Augusta M. A.; Henneman, Lidewij

    2014-01-01

    Non-invasive prenatal testing (NIPT) and its potential to test for multiple disorders has received much attention. This study explores attitudes of women and men towards NIPT, and their views on widening the scope of prenatal testing in a country with a low uptake of prenatal screening (The

  9. Cytogenetic studies on recipients of allogeneic bone marrow transplants after fractionated total body irradiation

    Energy Technology Data Exchange (ETDEWEB)

    Schmitz, N; Goedde-Salz, E; Loeffler, H [Christian-Albrechts-Univ., Kiel (Germany, F.R.)

    1985-06-01

    Cytogenetic findings from the bone marrow (BM) and the peripheral blood (PB) of nine consecutive patients after allogeneic bone marrow transplantation (BMT) for acute or chronic myelogenous leukaemia are reported. After a conditioning regimen consisting of cyclophosphamide and fractionated total body irradiation (TBI) given in five or six fractions of 2 Gy, persistence of host cells was detected in four out of seven cases with permanent engraftment. While one of these patients relapsed 4 months after host cells had been found in BM and PB, the other patients stayed relapse-free 124, 257 and 347 d after grafting. Before transplantation, the leukaemic cells in all three cases carried unique cytogenetic abnormalities giving the opportunity to distinguish the leukaemic population from chromosomally non-aberrant cells thought to represent residual normal host cells. As the persisting host cells after BMT lacked any cytogenetic abnormalities, it is suggested that they were members of residual normal clones not involved in the leukaemic process.

  10. Customized laboratory information management system for a clinical and research leukemia cytogenetics laboratory.

    Science.gov (United States)

    Bakshi, Sonal R; Shukla, Shilin N; Shah, Pankaj M

    2009-01-01

    We developed a Microsoft Access-based laboratory management system to facilitate database management of leukemia patients referred for cytogenetic tests in regards to karyotyping and fluorescence in situ hybridization (FISH). The database is custom-made for entry of patient data, clinical details, sample details, cytogenetics test results, and data mining for various ongoing research areas. A number of clinical research laboratoryrelated tasks are carried out faster using specific "queries." The tasks include tracking clinical progression of a particular patient for multiple visits, treatment response, morphological and cytogenetics response, survival time, automatic grouping of patient inclusion criteria in a research project, tracking various processing steps of samples, turn-around time, and revenue generated. Since 2005 we have collected of over 5,000 samples. The database is easily updated and is being adapted for various data maintenance and mining needs.

  11. Cytogenetic studies on recipients of allogeneic bone marrow transplants after fractionated total body irradiation

    International Nuclear Information System (INIS)

    Schmitz, N.; Goedde-Salz, E.; Loeffler, H.

    1985-01-01

    Cytogenetic findings from the bone marrow (BM) and the peripheral blood (PB) of nine consecutive patients after allogeneic bone marrow transplantation (BMT) for acute or chronic myelogenous leukaemia are reported. After a conditioning regimen consisting of cyclophosphamide and fractionated total body irradiation (TBI) given in five or six fractions of 2 Gy, persistence of host cells was detected in four out of seven cases with permanent engraftment. While one of these patients relapsed 4 months after host cells had been found in BM and PB, the other patients stayed relapse-free 124, 257 and 347 d after grafting. Before transplantation, the leukaemic cells in all three cases carried unique cytogenetic abnormalities giving the opportunity to distinguish the leukaemic population from chromosomally non-aberrant cells thought to represent residual normal host cells. As the persisting host cells after BMT lacked any cytogenetic abnormalities, it is suggested that they were members of residual normal clones not involved in the leukaemic process. (author)

  12. Advances in the role of cytogenetic analysis in the molecular diagnosis of B-cell lymphomas.

    Science.gov (United States)

    Grange, Béatrice; Callet-Bauchu, Evelyne; Salles, Gilles; Sujobert, Pierre

    2017-06-01

    Cytogenetic abnormalities represent essential determinants of diagnosis and prognosis in B-cell lymphomas. Their theranostic value is increasingly significant with the development of targeted therapies, in order to adapt the treatment at diagnosis as well as when relapse occurs. Areas covered: As the significance of these biomarkers is influenced by the technology used to detect them, an overview describing the strength and weakness of conventional and emerging technologies is provided. This review also updates the diverse cytogenetic abnormalities found in B-cell lymphomas, emphasizing their value in treatment decision. Expert commentary: Cytogenetics remains an essential analysis for the diagnostic work-up of lymphomas. As whole genome sequencing becomes more and more affordable routinely, the next challenge will be to recover all the information conveyed by conventional karyotype, including the analysis of the clonal architecture at the single cell level, in whole genome data.

  13. Cytogenetic methods for the detection of radiation-induced chromosome damage in aquatic organisms

    International Nuclear Information System (INIS)

    Kligerman, A.D.

    1979-01-01

    One means of evaluating the genetic effects of radiation on the genomes of aquatic organisms is to screen radiation-exposed cells for chromosome aberrations. A brief literature review of studies dealing with radiation-induced chromosome damage in aquatic organisms is presented, and reasons are given detailing why most previous studies are of little quantitative value. Suggestions are made for obtaining adequate qualitative and quantitative data through the use of modern cytogenetic methods and a model systems approach to the study of cytogenetic radiation damage in aquatic organisms. Detailed procedures for both in vivo and in vitro cytogenetic methods are described, and experimental considerations are discussed. Finally, suggestions for studies that could be of value in establishing protective guidelines for aquatic ecosystems are presented. (author)

  14. Cytogenetic studies of Brazilian pediatric myelodysplastic syndrome cases: challenges and difficulties in a large and emerging country

    Directory of Open Access Journals (Sweden)

    E.D.R.P. Velloso

    2013-01-01

    Full Text Available Myelodysplastic syndromes (MDS and juvenile myelomonocytic leukemia (JMML are rare hematopoietic stem cell diseases affecting children. Cytogenetics plays an important role in the diagnosis of these diseases. We report here the experience of the Cytogenetic Subcommittee of the Brazilian Cooperative Group on Pediatric Myelodysplastic Syndromes (BCG-MDS-PED. We analyzed 168 cytogenetic studies performed in 23 different cytogenetic centers; 84 of these studies were performed in patients with confirmed MDS (primary MDS, secondary MDS, JMML, and acute myeloid leukemia/MDS+Down syndrome. Clonal abnormalities were found in 36.9% of the MDS cases and cytogenetic studies were important for the detection of constitutional diseases and for differential diagnosis with other myeloid neoplasms. These data show the importance of the Cooperative Group for continuing education in order to avoid a late or wrong diagnosis.

  15. Cytogenetic studies of Brazilian pediatric myelodysplastic syndrome cases: challenges and difficulties in a large and emerging country.

    Science.gov (United States)

    Velloso, E D R P; Chauffaille, M L; Peliçario, L M; Tanizawa, R S S; Toledo, S R C; Gaiolla, R D; Lopes, L F

    2013-01-01

    Myelodysplastic syndromes (MDS) and juvenile myelomonocytic leukemia (JMML) are rare hematopoietic stem cell diseases affecting children. Cytogenetics plays an important role in the diagnosis of these diseases. We report here the experience of the Cytogenetic Subcommittee of the Brazilian Cooperative Group on Pediatric Myelodysplastic Syndromes (BCG-MDS-PED). We analyzed 168 cytogenetic studies performed in 23 different cytogenetic centers; 84 of these studies were performed in patients with confirmed MDS (primary MDS, secondary MDS, JMML, and acute myeloid leukemia/MDS+Down syndrome). Clonal abnormalities were found in 36.9% of the MDS cases and cytogenetic studies were important for the detection of constitutional diseases and for differential diagnosis with other myeloid neoplasms. These data show the importance of the Cooperative Group for continuing education in order to avoid a late or wrong diagnosis.

  16. Primary cutaneous follicle center lymphoma associated with an extracutaneous dissemination: a cytogenetic finding of potential prognostic value.

    Science.gov (United States)

    Subramaniyam, Shivakumar; Magro, Cynthia M; Gogineni, Swarna; Tam, Wayne; Mathew, Susan

    2015-11-01

    Cytogenetic studies on cutaneous lymphomas are rare, and very little is known about their prognostic value. We present a rare case of primary cutaneous follicle center lymphoma (PCFCL) with a complex translocation presenting with cutaneous and extracutaneous dissemination in the lymph node. Morphologic, immunohistochemical, conventional cytogenetic, and fluorescence in situ hybridization (FISH) studies were performed on this patient. A combination of cytogenetic and FISH analysis identified a complex novel four-way t(2;14;9;3) (p11.2;q32;p13;q27) translocation involving rearrangements of BCL6, immunoglobulin light and heavy chain genes, and an unknown gene on 9p. Our report elaborates the morphologic and immunohistochemical features in combination with cytogenetic and molecular cytogenetic analysis of PCFCL, which provide additional insight into the clinical and biologic behavior of this lesion. Copyright© by the American Society for Clinical Pathology.

  17. How cytogenetical methods help victims prove radiation exposure and claim right for social support: NCERM experience

    International Nuclear Information System (INIS)

    Aleksanin, S.; Slozina, N.; Neronova, E.; Smoliakov, E.

    2011-01-01

    Russian citizens who were irradiated because of radiation disasters, nuclear weapons testing and some other sources have a right to some social support and financial compensation. In order to get this compensation people have to prove that they were irradiated. As it is, not all victims for a variety of reasons have formal documents. Thus they apply for cytogenetic investigation to prove irradiation months, years and even decades after irradiation. Since 1992 the cytogenetic investigations related to radiation exposure were performed in NRCERM for more than 700 people. At the beginning of this investigation FISH method was not certified as a biodosimenty test in Russia. Only dicentric analysis was approved as a proof of irradiation. It is known that the rate of dicentrics decrease in time, but the residual level of cytogenetical markers could be revealed a long time after a radiation accident. Thus the dicentric analysis was performed for the people who applied for biological indication of radiation exposure at that time. Rates of dicentrics exceeding control levels were revealed in half the people who applied for radiation conformation. Now FISH method is certified in Russia and both cytogenetic tests of biodosimetry (dicentrics and FISH) are available for all comers. Increased levels of translocations were found in 8 cases (the dose rate from 0.16 to 0.64 Gy). On the basis of the results of cytogenetic tests official documents were supplied to these people and they were entitled to apply for radiation exposure compensation. Thus cytogenetic tests are very effective and in some cases the only possible way for the victims to prove irradiation exposure and to apply for radiation exposure compensation a long time after an accident.

  18. Cytogenetic profile in 1,921 cases of trisomy 21 syndrome.

    Science.gov (United States)

    Flores-Ramírez, Francisco; Palacios-Guerrero, Claudia; García-Delgado, Constanza; Morales-Jiménez, Ariadna Berenice; Arias-Villegas, Christian Martín; Cervantes, Alicia; Morán-Barroso, Verónica Fabiola

    2015-08-01

    Trisomy 21 is the most frequent genetic cause of intellectual disability. It is caused by different cytogenetic aberrations: free trisomy, Robertsonian translocations, mosaicism, duplication of the critical region and other structural rearrangements of chromosome 21. The aim of the study was to identify in Mexican trisomy 21 patients who attended Hospital Infantil de México Federico Gómez from 1992-2011 the type and frequency of the cytogenetic aberration and to evaluate the effect of maternal age. A retrospective analysis of epidemiological data and karyotype reports were carried out; type and frequency of the cytogenetic variants were determined. We identified 2,018 cases referred with a clinical diagnosis of trisomy 21. In 1,921 analyses (95.2%) a cytogenetic variant of trisomy 21 was identified: free trisomy 21 in 1,787 cases (93.02%), four cases (0.21%) had an additional non-contributory aberration; Robertsonian translocations in 92 cases (4.79%); mosaicism in 31 cases (1.61%) and seven cases (0.36%) had other chromosomal abnormalities, five (0.26%) had other contributory structural rearrangements and two corresponded to double aneuploidies (0.10%). Gender distribution was 1,048 (54.56%) males and 873 (45.44%) females. A maternal age effect was observed in patients with free trisomy 21 with mothers >36 years of age. The present work reports the experience of a Mexican referral center regarding the karyotype diagnosis of patients with trisomy 21 and is one of the most extensive studies published so far. Percentages of the cytogenetic abnormalities present in our population reflect the ones previously reported for these cytogenetic alterations worldwide. Copyright © 2015 IMSS. Published by Elsevier Inc. All rights reserved.

  19. How cytogenetical methods help victims prove radiation exposure and claim right for social support: NCERM experience

    Energy Technology Data Exchange (ETDEWEB)

    Aleksanin, S., E-mail: Aleksanin@arcerm.spb.ru [Nikiforov Russian Center of Emergency and Radiation Medicine EMERCOM of Russia, (NRCERM) ul. Akademika Lebedeva 4/2, 194044 St. Petersburg (Russian Federation); Slozina, N., E-mail: NataliaSlozina@peterlink.ru [Nikiforov Russian Center of Emergency and Radiation Medicine EMERCOM of Russia, (NRCERM) ul. Akademika Lebedeva 4/2, 194044 St. Petersburg (Russian Federation); Neronova, E.; Smoliakov, E. [Nikiforov Russian Center of Emergency and Radiation Medicine EMERCOM of Russia, (NRCERM) ul. Akademika Lebedeva 4/2, 194044 St. Petersburg (Russian Federation)

    2011-09-15

    Russian citizens who were irradiated because of radiation disasters, nuclear weapons testing and some other sources have a right to some social support and financial compensation. In order to get this compensation people have to prove that they were irradiated. As it is, not all victims for a variety of reasons have formal documents. Thus they apply for cytogenetic investigation to prove irradiation months, years and even decades after irradiation. Since 1992 the cytogenetic investigations related to radiation exposure were performed in NRCERM for more than 700 people. At the beginning of this investigation FISH method was not certified as a biodosimenty test in Russia. Only dicentric analysis was approved as a proof of irradiation. It is known that the rate of dicentrics decrease in time, but the residual level of cytogenetical markers could be revealed a long time after a radiation accident. Thus the dicentric analysis was performed for the people who applied for biological indication of radiation exposure at that time. Rates of dicentrics exceeding control levels were revealed in half the people who applied for radiation conformation. Now FISH method is certified in Russia and both cytogenetic tests of biodosimetry (dicentrics and FISH) are available for all comers. Increased levels of translocations were found in 8 cases (the dose rate from 0.16 to 0.64 Gy). On the basis of the results of cytogenetic tests official documents were supplied to these people and they were entitled to apply for radiation exposure compensation. Thus cytogenetic tests are very effective and in some cases the only possible way for the victims to prove irradiation exposure and to apply for radiation exposure compensation a long time after an accident.

  20. Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies.

    Science.gov (United States)

    Bianchi, Diana W; Chudova, Darya; Sehnert, Amy J; Bhatt, Sucheta; Murray, Kathryn; Prosen, Tracy L; Garber, Judy E; Wilkins-Haug, Louise; Vora, Neeta L; Warsof, Stephen; Goldberg, James; Ziainia, Tina; Halks-Miller, Meredith

    2015-07-14

    sampled after completion of treatment for colorectal cancer and the abnormal pattern was no longer evident. In this preliminary study, a small number of cases of occult malignancy were subsequently diagnosed among pregnant women whose noninvasive prenatal testing results showed discordance with the fetal karyotype. The clinical importance of these findings will require further research.