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Sample records for prenatal genetic screening

  1. 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...

  2. Prenatal screening and genetics

    NARCIS (Netherlands)

    Alderson, P.; Aro, A.R.; Dragonas, T.; Ettorre, E.; Hemminki, E.; Jalinoja, P.; Santalahti, P.; Tijmstra, T.

    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

  3. Prenatal screening and genetics

    NARCIS (Netherlands)

    Alderson, P.; Aro, A.R.; Dragonas, T.; Ettorre, E.; Hemminki, E.; Jalinoja, P.; Santalahti, P.; Tijmstra, 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 exami

  4. 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 ex...

  5. Prenatal Genetic Screening Tests

    Science.gov (United States)

    ... cells from the fetus or placenta obtained through amniocentesis or chorionic villus sampling (CVS) . FAQ164 “Prenatal Genetic ... should be followed by a diagnostic test with amniocentesis or CVS. The cell-free DNA screening test ...

  6. PRENATAL DIAGNOSIS AND SCREENING OF GENETIC ABNORMALITIES IN EARLY PREGNANCY

    Directory of Open Access Journals (Sweden)

    Jyothi Kiran Kohli

    2016-11-01

    Full Text Available BACKGROUND Genetic diseases are one of the major causes of hospital admissions due to disability and mortality particularly among children (1:5 children of hospital admission either partially/completely as distribution of genetic diseases is not related to socioeconomic background, which implies that developing world has a large number of genetic diseases largely left uncared for, i.e. overall incidence of foetal/neonatal loss due to genetic/genetic environmental causes are as follows: 1:50 newborns have major congenital abnormality, 1:100 have a unifactorial disorder, 1:200 have a major chromosomal abnormality before birth. Diagnosis of chromosomal anomalies in foetus is one of the most important challenges in modern perinatology as invasive or noninvasive methods. The aim of the study is to review on cytogenetic evaluation of CVS obtained (transcervically during first trimester of pregnancy by direct karyotyping of tissue. MATERIALS AND METHODS This study was conducted in 2001 in Department of Anatomy along with Obstetrics and Gynaecology Department, LNJP Hospital. 37 healthy cases with 6-12 weeks of gestational age coming for medical termination of pregnancy were included in the study. After written informed consent for procedure, ultrasound-guided transcervical chorionic villus sampling was done (Brambati’s method. Tissue procured was then processed for direct karyotyping and studied. Metaphase spreads were photographed and karyotypes prepared and studied. RESULTS Out of 37 pregnant females, 30 samples were successfully prepared and processed by Direct method out of which 23 were normal female (46, XX and 7 were normal male (46, XY. No normal anomaly was detected. Best biopsies were obtained with 8-12 weeks gestation. G Banding could not be performed as chromosome obtained were found to be resistant to banding. CONCLUSIONS To summarise chromosome preparations obtained from CVS by Direct method has advantage of providing sufficient number

  7. Evaluation of a novel electronic genetic screening and clinical decision support tool in prenatal clinical settings.

    Science.gov (United States)

    Edelman, Emily A; Lin, Bruce K; Doksum, Teresa; Drohan, Brian; Edelson, Vaughn; Dolan, Siobhan M; Hughes, Kevin; O'Leary, James; Vasquez, Lisa; Copeland, Sara; Galvin, Shelley L; DeGroat, Nicole; Pardanani, Setul; Gregory Feero, W; Adams, Claire; Jones, Renee; Scott, Joan

    2014-07-01

    "The Pregnancy and Health Profile" (PHP) is a free prenatal genetic screening and clinical decision support (CDS) software tool for prenatal providers. PHP collects family health history (FHH) during intake and provides point-of-care risk assessment for providers and education for patients. This pilot study evaluated patient and provider responses to PHP and effects of using PHP in practice. PHP was implemented in four clinics. Surveys assessed provider confidence and knowledge and patient and provider satisfaction with PHP. Data on the implementation process were obtained through semi-structured interviews with administrators. Quantitative survey data were analyzed using Chi square test, Fisher's exact test, paired t tests, and multivariate logistic regression. Open-ended survey questions and interviews were analyzed using qualitative thematic analysis. Of the 83% (513/618) of patients that provided feedback, 97% felt PHP was easy to use and 98% easy to understand. Thirty percent (21/71) of participating physicians completed both pre- and post-implementation feedback surveys [13 obstetricians (OBs) and 8 family medicine physicians (FPs)]. Confidence in managing genetic risks significantly improved for OBs on 2/6 measures (p values ≤0.001) but not for FPs. Physician knowledge did not significantly change. Providers reported value in added patient engagement and reported mixed feedback about the CDS report. We identified key steps, resources, and staff support required to implement PHP in a clinical setting. To our knowledge, this study is the first to report on the integration of patient-completed, electronically captured and CDS-enabled FHH software into primary prenatal practice. PHP is acceptable to patients and providers. Key to successful implementation in the future will be customization options and interoperability with electronic health records.

  8. New Advances of Preimplantation and Prenatal Genetic Screening and Noninvasive Testing as a Potential Predictor of Health Status of Babies

    Directory of Open Access Journals (Sweden)

    Tanya Milachich

    2014-01-01

    Full Text Available The current morphologically based selection of human embryos for transfer cannot detect chromosome aneuploidies. So far, only biopsy techniques have been able to screen for chromosomal aneuploidies in the in vitro fertilization (IVF embryos. Preimplantation genetic diagnosis (PGD or screening (PGS involves the biopsy of oocyte polar bodies or embryonic cells and has become a routine clinical procedure in many IVF clinics worldwide, including recent development of comprehensive chromosome screening of all 23 pairs of chromosomes by microarrays for aneuploidy screening. The routine preimplantation and prenatal genetic diagnosis (PND require testing in an aggressive manner. These procedures may be invasive to the growing embryo and fetus and potentially could compromise the clinical outcome. Therefore the aim of this review is to summarize not only the new knowledge on preimplantation and prenatal genetic diagnosis in humans, but also on the development of potential noninvasive embryo and fetal testing that might play an important role in the future.

  9. [Large-scale population-based genetic screening and prenatal diagnosis for thalassemias in Zhuhai City of Guangdong Province].

    Science.gov (United States)

    Zhou, Yu-qiu; Shang, Xuan; Yin, Bao-min; Xiong, Fu; Xiao, Qi-zhi; Zhou, Wan-jun; Zhang, Yong-liang; Xu, Xiang-min

    2012-02-01

    To report the results of preventive control program of severe thalassemias in Zhuhai City of Guangdong Province from 1998 to 2010. As the guide centre of marriage and childbearing and the greatest maternity hospital in Zhuhai City of Guangdong Province, Zhuhai Municipal Maternity and Child Healthcare Hospital constructed the genetic screening network for thalassemias testing and referred for follow-up and for genetic counseling. The couples for premarital medical examination or regular healthcare examination in pregnancy were enrolled to this preventive control program. A conventional strategy of screening for heterozygote was used to identify the α- and β-thalassemia traits in women and their spouses according to the standard procedures of hematological phenotype analysis which was recommended by Thalassemia International Federation (TIF). Then those suspected couples at risk were diagnosed for α- and β-thalassemia by PCR-based DNA assays. The couples at risk for severe thalassemias were counseled and offered prenatal diagnosis and termination of pregnancy in case of an affected fetus in the rights of consent and of option voluntarily. From January 1998 to December 2010, 85 522 brides and grooms-to-be for premarital screening and 41 503 pregnant women in addition to 14 141 partners for prenatal screening were recorded, the covering rates of premarital screening and prenatal screening in the city were 92.698% (from 1998 to 2003) and 27.667% (from 2004 to 2010), respectively. Totally 10 726 cases were found to be the carriers of thalassemias, with 7393 for α-thalassemia (5.237%, 7 393/141 166) and 3333 for β-thalassemia (2.361%, 3 333/141 166). A total of 257 couples at-risk for severe thalassemias were detected including 190 for α-thalassemia and 67 for β-thalassemia. Among them, 251 (97.7%, 251/257) couples were performed prenatal diagnosis. During the preventive control program, a total of 72 fetuses with severe thalassemias including hemoglobin H disease

  10. Attitudes of young adults to prenatal screening and genetic correction for human attributes and psychiatric conditions.

    Science.gov (United States)

    Milner, K K; Collins, E E; Connors, G R; Petty, E M

    1998-03-05

    With recent advances in DNA technology, questions have arisen as to how this technology should be appropriately used. In this article, results obtained from a survey designed to elicit attitudes of college students to prenatal testing and gene therapy for human attributes and psychiatric conditions are reported. The eleven hypothetical disease phenotypes included schizophrenia, alcoholism, tendency toward violent behavior, attention deficit/hyperactivity disorder, depression requiring medical treatment, obesity, involvement in "dangerous" sports activities, homosexuality, borderline normal IQ (80-100), proportional short stature, and inability to detect perfect pitch. Most students supported prenatal genetic testing for psychiatric disorders and behavior that might result in harm to others (i.e., tendency towards violent behavior) and found prenatal genetic testing for human attributes less desirable. However, the lack of unilateral agreement or disagreement toward any one condition or attribute suggests the potential difficulties ahead in the quest for guidelines for the application of new technologies available to manipulate the human genome.

  11. Preimplantation genetic screening as an alternative to prenatal testing for Down syndrome : preferences of women undergoing in vitro fertilization/intracytoplasmic sperm injection treatment

    NARCIS (Netherlands)

    Twisk, Moniek; Haadsma, Maaike L.; van der Veen, Fulco; Repping, Sjoerd; Mastenbroek, Sebastiaan; Heineman, Maas-Jan; Bossuyt, Patrick M. M.; Korevaar, Johanna C.

    2007-01-01

    Objective: Although the primary goal of preimplantation genetic screening (PGS) is to increase pregnancy rates in women undergoing IVF/intracytoplasmic sperm injection treatment, it has been suggested that it may also be used as an alternative to prenatal testing for Down syndrome. Design: Trade-off

  12. Prenatal screening methods for aneuploidies

    Directory of Open Access Journals (Sweden)

    Madhusudan Dey

    2013-01-01

    Full Text Available Aneuploidies are a major cause of perinatal morbidity and mortality. Therefore, it is the most common indication for invasive prenatal diagnosis. Initially, screening for aneuploidies started with maternal age risk estimation. Later on, serum testing for biochemical markers and ultrasound markers were added. Women detected to be at high-risk for aneuploidies were offered invasive testing. New research is now focusing on non-invasive prenatal testing using cell-free fetal DNA in maternal circulation. The advantage of this technique is the ability to reduce the risk of miscarriage associated with invasive diagnostic procedures. However, this new technique has its own set of technical limitations and ethical issues at present and careful consideration is required before broad implementation

  13. Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing

    Science.gov (United States)

    Chen, Yi-Yao; Li, Shu-Yuan; Zhang, Lan-Lan; Shen, Ying-Hua; Chang, Chun-Xin; Xiang, Yu-Qian; Huang, He-Feng; Xu, Chen-Ming

    2017-01-01

    X-linked lymphoproliferative disease type 1 (XLP1) is a rare primary immunodeficiency characterized by a clinical triad consisting of severe EBV-induced hemophagocytic lymphohistiocytosis, B-cell lymphoma, and dysgammaglobulinemia. Mutations in SH2D1A gene have been revealed as the cause of XLP1. In this study, a pregnant woman with recurrence history of birthing immunodeficiency was screened for pathogenic variant because the proband sample was unavailable. We aimed to clarify the genetic diagnosis and provide prenatal testing for the family. Next-generation sequencing (NGS)-based multigene panel was used in carrier screening of the pregnant woman. Variants of immunodeficiency related genes were analyzed and prioritized. Candidate variant was verified by using Sanger sequencing. The possible influence of the identified variant was evaluated through RNA assay. Amniocentesis, karyotyping, and Sanger sequencing were performed for prenatal testing. We identified a novel de novo frameshift SH2D1A pathogenic variant (c.251_255delTTTCA) in the pregnant carrier. Peripheral blood RNA assay indicated that the mutant transcript could escape nonsense-mediated mRNA decay (NMD) and might encode a C-terminal truncated protein. Information of the variant led to success prenatal diagnosis of the fetus. In conclusion, our study clarified the genetic diagnosis and altered disease prevention for a pregnant carrier of XLP1. PMID:28231257

  14. [A community-based genetic screening of large-scale population and prenatal diagnosis for alpha and beta thalassemia in Zhuhai city of Guangdong province].

    Science.gov (United States)

    Zhou, Yu-qiu; Mo, Qiu-hua; Lu, Jin-han; Li, Li-yan; Liang, Xiong; Jia, Shi-qi; Xiao, Ge-fei; Zhou, Wan-jun; Xiao, Qi-zhi; Xu, Xiang-min

    2008-06-01

    To describe a community-based model for prevention and control of severe alpha and beta thalassemias in Zhuhai city of Guangdong province. Couples for premarital medical examination or regular healthcare examination in pregnancy were enrolled in this prospective screening program, which was supported by the two-level network composed of 6 local hospitals for testing thalassemias and follow-up for genetic counseling. A conventional heterozygote screening strategy was used to determine alpha and beta thalassemia traits in women and their partners according to the standard procedures of hematological phenotype analysis. Then confirmative diagnosis of alpha and beta thalassemia was performed on those couples suspected at-risk for severe thalassemia by using the PCR-based molecular diagnostic assays. The couples at-risk for severe thalassemia were counseled and offered prenatal diagnosis and termination of pregnancy in case of an affected fetus. During the period between January 1998 and December 2005, the screened records included 85522 young females and their partners for premarital screening and 10439 pregnant women for prenatal screening, with 71.38% coverage of total population recorded in this city for premarital screening. Six thousands five hundreds and sixty-three individuals in total were found to be the carriers of thalassemias, with 4312 for alpha thalassemia (4.5%) and 2251 for beta thalassemia (2.3%), respectively. One hundred and forty-eight couples were diagnosed to be at-risk for thalassemias, including 103 for alpha thalassemia and 45 for beta thalassemia, respectively. Successful prenatal diagnosis was made for 142 (98 for alpha thalassemia and 44 for beta thalassemia) out of 148 (95.9%) pregnancies at-risk for severe thalassemias. Twenty-three cases of hydrops fetalis, 4 of Hb H diseases and 14 of beta thalassemia were identified. All 41 pregnancies with affected fetuses were voluntarily terminated. Thus, this has led to a marked decrease of severe

  15. Prenatal Genetic Testing Chart

    Science.gov (United States)

    ... NT ultrasound exam • Screens for Down • syndrome and trisomy 18 First-trimester screening Second-trimester screening (“quad ... 22 weeks • Blood test • Screens for Down syndrome, trisomy 13, trisomy 18, and NTDs Standard ultrasound exam • ...

  16. The California Prenatal Screening Program: "options and choices" not "coercion and eugenics".

    Science.gov (United States)

    Flessel, Monica C; Lorey, Fred W

    2011-08-01

    The California Prenatal Screening Program is designed to make prenatal screening available to the state's large and diverse population. The Program provides information to women which will allow them to make informed choices regarding prenatal screening and prenatal diagnosis. Since the Program's inception in 1986, women in California have had the option to participate in prenatal screening or to decline prenatal screening. The California Program offers prenatal diagnostic services to women whose screening tests indicate an increased risk for birth defects, including Down syndrome. Women can decline any or all of these follow-up services. Genetic counseling, diagnostic services, and the presentation of diagnostic results are performed by medical professionals (not State staff) who follow established guidelines for nondirective counseling. Program data clearly demonstrate that women in California have a wide range of options and make a wide range of choices regarding prenatal screening and prenatal diagnosis. California's comprehensive Prenatal Screening Program promotes optimal care for all women within all options and choices. The important and necessary communication among organizations and stakeholders involved in prenatal screening and diagnosis, and in related care for pregnant women and for people with Down syndrome, is not served by misrepresentation and inflammatory rhetoric.

  17. Prenatal and newborn screening for hemoglobinopathies.

    Science.gov (United States)

    Hoppe, C C

    2013-06-01

    The hemoglobinopathies encompass a heterogeneous group of disorders associated with mutations in both the alpha-globin and beta-globin genes. Increased immigration of high-risk populations has prompted the implementation of prenatal and newborn screening programs for hemoglobinopathies across Europe and North America. In Canada, the UK, and other European countries, prenatal screening to identify hemoglobinopathy carriers and offer prenatal diagnostic testing to couples at risk is linked to newborn screening, while in the United States, it is still not universally performed. The structure of screening programs, whether prenatal or postnatal, universal or selective, varies greatly among these countries and within the United States. The laboratory methods used to identify hemoglobinopathies are based on the prevalence of hemoglobinopathies within the population and the type of screening performed. Advances in molecular testing have facilitated the diagnosis of complex thalassemias and sickling disorders observed in ethnically diverse populations. This review summarizes the current approaches and methods used for carrier detection, prenatal diagnosis, and newborn screening.

  18. Prenatal diagnosis--principles of diagnostic procedures and genetic counseling.

    Directory of Open Access Journals (Sweden)

    Ryszard Slezak

    2008-04-01

    Full Text Available The frequency of inherited malformations as well as genetic disorders in newborns account for around 3-5%. These frequency is much higher in early stages of pregnancy, because serious malformations and genetic disorders usually lead to spontaneous abortion. Prenatal diagnosis allowed identification of malformations and/or some genetic syndromes in fetuses during the first trimester of pregnancy. Thereafter, taking into account the severity of the disorders the decision should be taken in regard of subsequent course of the pregnancy taking into account a possibilities of treatment, parent's acceptation of a handicapped child but also, in some cases the possibility of termination of the pregnancy. In prenatal testing, both screening and diagnostic procedures are included. Screening procedures such as first and second trimester biochemical and/or ultrasound screening, first trimester combined ultrasound/biochemical screening and integrated screening should be widely offered to pregnant women. However, interpretation of screening results requires awareness of both sensitivity and predictive value of these procedures. In prenatal diagnosis ultrasound/MRI searching as well as genetic procedures are offered to pregnant women. A variety of approaches for genetic prenatal analyses are now available, including preimplantation diagnosis, chorion villi sampling, amniocentesis, fetal blood sampling as well as promising experimental procedures (e.g. fetal cell and DNA isolation from maternal blood. An incredible progress in genetic methods opened new possibilities for valuable genetic diagnosis. Although karyotyping is widely accepted as golden standard, the discussion is ongoing throughout Europe concerning shifting to new genetic techniques which allow obtaining rapid results in prenatal diagnosis of aneuploidy (e.g. RAPID-FISH, MLPA, quantitative PCR.

  19. Prenatal screening and prenatal diagnosis: contemporary practices in light of the past.

    Science.gov (United States)

    Iltis, Ana S

    2016-06-01

    The 20th century eugenics movement in the USA and contemporary practices involving prenatal screening (PNS), prenatal diagnosis (PND), abortion and preimplantation genetic diagnosis (PGD) share important morally relevant similarities. I summarise some features of the 20th century eugenics movement; describe the contemporary standard of care in the USA regarding PNS, PND, abortion and PGD; and demonstrate that the 'old eugenics' the contemporary standard of care share the underlying view that social resources should be invested to prevent the birth of people with certain characteristics. This comparison makes evident the difficulty of crafting moral arguments that treat some uses of PNS, PND, abortion and PGD as licit and others as illicit.

  20. Do recent US Supreme Court rulings on patenting of genes and genetic diagnostics affect the practice of genetic screening and diagnosis in prenatal and reproductive care?

    Science.gov (United States)

    Chandrasekharan, Subhashini; McGuire, Amy L; Van den Veyver, Ignatia B

    2014-10-01

    Thousands of patents have been awarded that claim human gene sequences and their uses, and some have been challenged in court. In a recent high-profile case, Association for Molecular Pathology, et al. v. Myriad Genetics, Inc., et al., the US Supreme Court ruled that genes are natural occurring substances and therefore not patentable through 'composition of matter' claims. The consequences of this ruling will extend well beyond ending Myriad's monopoly over BRCA testing and may affect similar monopolies of other commercial laboratories for tests involving other genes. It could also simplify intellectual property issues surrounding genome-wide clinical sequencing, which can generate results for genes covered by intellectual property. Non-invasive prenatal testing (NIPT) for common aneuploidies using cell-free fetal (cff) DNA in maternal blood is currently offered through commercial laboratories and is also the subject of ongoing patent litigation. The recent Supreme Court decision in the Myriad case has already been invoked by a lower district court in NIPT litigation and resulted in invalidation of primary claims in a patent on currently marketed cffDNA-based testing for chromosomal aneuploidies.

  1. Genetic screening and democracy: lessons from debating genetic screening criteria in the Netherlands.

    Science.gov (United States)

    van El, Carla Geertruida; Pieters, Toine; Cornel, Martina

    2012-04-01

    Recent decades have witnessed increasing possibilities for genetic testing and screening. In clinical genetics, the doctor's office defined a secluded space for discussion of sensitive reproductive options in cases of elevated risk for genetic disorders in individuals or their offspring. When prenatal screening for all pregnant women became conceivable, the potential increase in scale made social and ethical concerns relevant for the whole of society. Whereas genetic testing in clinical genetic practice was widely accepted, prenatal screening at a population level met with unease. Concerns were raised regarding social pressure to screen: the sum of individual choice might result in a 'collective eugenics'. The government's involvement also raised suspicion: actively offering screening evoked associations with eugenic population policies from the first half of the 20th century. By reconstructing elements of policy and public debate on prenatal screening in the Netherlands from the past 30 years, this article discusses how the government has gradually changed its role in balancing the interest of the individual and the collective on genetic reproductive issues. Against a background of increasing knowledge about and demand for prenatal screening among the population, governmental policy changed from focusing on protection by banning screening toward facilitating screening in a careful and ethically sound way by providing adequate information, decision aids and quality assessment instruments. In the meanwhile, invigorating democracy in public debate may entail discussing concepts of 'the good life' in relation to living with or without impairments and dealing with genetic information about oneself or one's offspring.

  2. Judaism, genetic screening and genetic therapy.

    Science.gov (United States)

    Rosner, F

    1998-01-01

    Genetic screening, gene therapy and other applications of genetic engineering are permissible in Judaism when used for the treatment, cure, or prevention of disease. Such genetic manipulation is not considered to be a violation of God's natural law, but a legitimate implementation of the biblical mandate to heal. If Tay-Sachs disease, diabetes, hemophilia, cystic fibrosis, Huntington's disease or other genetic diseases can be cured or prevented by "gene surgery," then it is certainly permitted in Jewish law. Genetic premarital screening is encouraged in Judaism for the purpose of discouraging at-risk marriages for a fatal illness such as Tay-Sachs disease. Neonatal screening for treatable conditions such as phenylketonuria is certainly desirable and perhaps required in Jewish law. Preimplantation screening and the implantation of only "healthy" zygotes into the mother's womb to prevent the birth of an affected child are probably sanctioned in Jewish law. Whether or not these assisted reproduction techniques may be used to choose the sex of one's offspring, to prevent the birth of a child with a sex-linked disease such as hemophilia, has not yet been ruled on by modern rabbinic decisions. Prenatal screening with the specific intent of aborting an affected fetus is not allowed according to most rabbinic authorities, although a minority view permits it "for great need." Not to have children if both parents are carriers of genetic diseases such as Tay-Sachs is not a Jewish option. Preimplantation screening is preferable. All screening test results must remain confidential. Judaism does not permit the alteration or manipulation of physical traits and characteristics such as height, eye and hair color, facial features and the like, when such change provides no useful benefit to mankind. On the other hand, it is permissible to clone organisms and microorganisms to facilitate the production of insulin, growth hormone, and other agents intended to benefit mankind and to

  3. Genetic counseling, prenatal screening and diagnosis of Down syndrome in the second trimester in women of advanced maternal age: a prospective study

    Institute of Scientific and Technical Information of China (English)

    QI Qing-wei; JIANG Yu-lin; ZHOU Xi-ya; LIU Jun-tao; YIN Jie; BIAN Xu-ming

    2013-01-01

    Background The incidence of autosomal trisomy in livebirths is strongly dependent on maternal age.Special consideration is given to the provision of prenatal screening and cytogenetic testing to women of advanced maternal age (AMA).The aim of this study was to evaluate the effectiveness of second trimester prenatal screening and amniocentesis for Down syndrome (DS) and compare the trends of choice of screening and amniocentesis among AMAwomen.Methods A total of 5404 AMA patients with natural singleton pregnancy were recruited for this prospective study from January 2008 to December 2010.The gestational weeks were from 15 weeks to 20+6 weeks.The patients referred were grouped into a screening group (2107 cases) and an amniocentesis group (3297 cases) by their own decision.The prevalence of DS was compared between the two groups by chi-square test.Choice rates for each maternal age with trends were compared by regression analysis.Results There were 18 cases of fetal DS detected in the screening group with a prevalence of 8.54‰ (18/2107).Twentyfive cases of fetal DS were diagnosed in the amniocentesis group with a prevalence of 7.58‰ (25/3297).No statistical difference was observed in the prevalence of DS between the screening and amniocentesis group (P=0.928).The invasive testing rate for DS in the amniocentesis group was 5.54 times higher than that of the screening group (1/131.88 vs.1/23.78).With the increase of the maternal age,the choice of amniocentesis increased while the choice of the screening showed an opposite trend.The choice of the AMA women between the screening and amniocantesis was significantly age relevant (P=0.012).Conclusions The second trimester serum screening in combination with maternal age was more effective than maternal age alone to screen for DS.We suggest educating the patients by recommending AMA women be informed of both screening and amniocentesis options.

  4. Knowledge of prenatal screening and psychological management of test decisions

    DEFF Research Database (Denmark)

    Dahl, Katja; Hvidman, Lone; Jørgensen, Finn Stener

    2010-01-01

    OBJECTIVES: To study associations between pregnant women's knowledge of prenatal screening and decisional conflict in deciding whether to participate in first trimester screening for Down's syndrome in a setting of required informed consent and to study associations between knowledge and personal...... level of knowledge for the pregnant women making choices about participation in prenatal screening for Down's syndrome in order to improve psychological management of test decisions. Copyright © 2010 ISUOG. Published by John Wiley & Sons, Ltd....

  5. Advantages of the Quadruple Screen over noninvasive prenatal testing.

    Science.gov (United States)

    Keller, Nathan A; Rijshinghani, Asha

    2016-03-01

    Noninvasive prenatal testing (NIPT) is becoming increasingly popular with some offering it as a primary screen option in all patients in place of serum screening. Serum screening offers insight into placental function, which NIPT does not. Abnormal levels of analytes in the serum screen have been associated with pregnancy complications.

  6. In defense of prenatal genetic interventions.

    Science.gov (United States)

    Murphy, Timothy F

    2014-09-01

    Jürgen Habermas has argued against prenatal genetic interventions used to influence traits on the grounds that only biogenetic contingency in the conception of children preserves the conditions that make the presumption of moral equality possible. This argument fails for a number of reasons. The contingency that Habermas points to as the condition of moral equality is an artifact of evolutionary contingency and not inviolable in itself. Moreover, as a precedent for genetic interventions, parents and society already affect children's traits, which is to say there is moral precedent for influencing the traits of descendants. A veil-of-ignorance methodology can also be used to justify prenatal interventions through its method of advance consent and its preservation of the contingency of human identities in a moral sense. In any case, the selection of children's traits does not undermine the prospects of authoring a life since their future remains just as contingent morally as if no trait had been selected. Ironically, the prospect of preserving human beings as they are--to counteract genetic drift--might even require interventions to preserve the ability to author a life in a moral sense. In light of these analyses, Habermas' concerns about prenatal genetic interventions cannot succeed as objections to their practice as a matter of principle; the merits of these interventions must be evaluated individually.

  7. Mutational Screening and Prenatal Diagnosis in Cornelia de Lange syndrome.

    Science.gov (United States)

    Dave, Usha; Shetty, Dhanlaxmi

    2014-02-01

    Phenotypic variability and the lack of a diagnostic marker have complicated the rapid diagnosis and genetic counseling for Cornelia de Lange syndrome (CdLS). The clinical features of CdLS are striking and easily recognizable by characteristic facial dysmorphism, upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities with severe mental retardation. The molecular diagnosis is essential for predicting prognosis and genetic counseling in the affected family, especially while planning the next pregnancy. We report here from India six cases of CdLS and how precise mutational screening in two cases helped in prenatal diagnosis and proved significant in prevention of recurrence in the affected family.

  8. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

    Science.gov (United States)

    Dondorp, Wybo; de Wert, Guido; Bombard, Yvonne; Bianchi, Diana W; Bergmann, Carsten; Borry, Pascal; Chitty, Lyn S; Fellmann, Florence; Forzano, Francesca; Hall, Alison; Henneman, Lidewij; Howard, Heidi C; Lucassen, Anneke; Ormond, Kelly; Peterlin, Borut; Radojkovic, Dragica; Rogowski, Wolf; Soller, Maria; Tibben, Aad; Tranebjærg, Lisbeth; van El, Carla G; Cornel, Martina C

    2015-11-01

    This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achieve its aim of facilitating autonomous reproductive choices, provided that balanced pretest information and non-directive counseling are available as part of the screening offer. Depending on the health-care setting, different scenarios for NIPT-based screening for common autosomal aneuploidies are possible. The trade-offs involved in these scenarios should be assessed in light of the aim of screening, the balance of benefits and burdens for pregnant women and their partners and considerations of cost-effectiveness and justice. With improving screening technologies and decreasing costs of sequencing and analysis, it will become possible in the near future to significantly expand the scope of prenatal screening beyond common autosomal aneuploidies. Commercial providers have already begun expanding their tests to include sex-chromosomal abnormalities and microdeletions. However, multiple false positives may undermine the main achievement of NIPT in the context of prenatal screening: the significant reduction of the invasive testing rate. This document argues for a cautious expansion of the scope of prenatal screening to serious congenital and childhood disorders, only following sound validation studies and a comprehensive evaluation of all relevant aspects. A further core message of this document is that in countries where prenatal screening is offered as a public health programme, governments and public health authorities should adopt an active role to ensure the responsible innovation of prenatal screening on the basis of ethical principles. Crucial elements are the quality of the screening process as a whole (including non

  9. Video recording to improve the quality of prenatal genetic counselling.

    NARCIS (Netherlands)

    Spelten, E.; Gitsels, J.; Pereboom, M.; Martin, L.; Hutton, E.; Dulmen, S. van

    2012-01-01

    OBJECTIVES: Counselling on prenatal testing has become an increasing part of obstetric care in the Netherlands. The majority of Dutch women (>70%) are counselled by midwives on prenatal testing (Wiegers and Hingstman, 2008). Prenatal screening on congenital abnormalities is not routinely done and pr

  10. Genetic screening services provided in Turkey.

    Science.gov (United States)

    Erdem, Yurdagül; Tekşen, Fulya

    2013-12-01

    In Turkey, the rate of consanguineous marriage is quite high (22-24 %) and as a result, the incidence of autosomal recessive diseases and congenital anomalies is also very high and gives rise to a serious public health problem. In the last three decades, great effort has been made to avoid increases in the prevalence of these hereditary diseases. For this purpose, population-based premarital, prenatal, neonatal and adult genetic screening programs are performed in various centers such as Community Health Centers, Early Diagnosis of Cancer and Education Centers (KETEM), Prenatal and Neonatal Departments of Universities and State Hospitals and Thalessemia Screening Centers. Such centers are staffed by health professionals including physicians, family physicians, nurses, midwives, biologists and medical geneticists. Genetic counseling is also provided to patients attending these centers after screening tests are performed. Since there are no specialized training programs for genetic counselors, genetic counseling is generally provided by doctors or medical geneticists. The aim of this paper is to give an overview of the genetic screening services provided in Turkey, the prevalence of genetic diseases and the design of intensive educational programs for health professionals.

  11. On what grounds do women participate in prenatal screening?

    DEFF Research Database (Denmark)

    Santalahti, P; Aro, A R; Hemminki, E

    1998-01-01

    Along with the rapid biomedical development of prenatal screening tests, target groups' attitudes and decision-making about, and the acceptance of, screening procedures have come into focus. To understand users' decision-making, it is essential to understand users' knowledge and perceptions of a ...

  12. Attitudes of families affected by adrenoleukodystrophy toward prenatal diagnosis, presymptomatic and carrier testing, and newborn screening.

    Science.gov (United States)

    Schaller, Jean; Moser, Hugo; Begleiter, Michael L; Edwards, Janice

    2007-01-01

    Families affected by adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) were surveyed to elicit attitudes toward prenatal, presymptomatic and carrier testing, and newborn screening in order to determine the level of support that these families have for current and future genetic testing protocols. Identifying attitudes toward genetic testing, including newborn screening, is especially important because of new data regarding therapeutic options and the possible addition of ALD to newborn screening regimens. The Kennedy Krieger Institute (KKI) database identified 327 prospective participants. Families that were willing to participate in the study received an anonymous questionnaire for completion. Frequencies were generated using SPSS software for Windows. Questionnaires were returned from 128 families for a response rate of 39%. Sons who were at risk for inheriting the ALD gene would be tested by 93% of respondents, and 89.3% would ideally have this testing performed prenatally or in the newborn period. Eighty-nine percent would test an at-risk daughter and 51.2% would ideally have this testing performed prenatally or shortly after birth. ALD newborn screening for males and females was supported by 90% of respondents. If newborn screening for ALD/AMN commences, or there is a new diagnosis of ALD, genetic professionals need to be prepared to have extensive conversations with families regarding the benefits and limitations of current therapeutic and genetic testing options.

  13. International experience of informed consent and genetic counseling on non-invasive prenatal testing applied in Down syndrome prenatal screening%非侵入性产前检测技术知情同意与遗传咨询的国际经验

    Institute of Scientific and Technical Information of China (English)

    明坚; 许艳; 周萍; 黄葭燕; 陈英耀

    2015-01-01

    This paper summarized the international experience on the implementation of informed consent and genetic counseling when non-invasive prenatal testing(NIPT) applied in Down syndrome prenatal screening. Then its implications for China were discussed and some policy recommendations were put forward,including enhancing the training to the counselors and doctors,clearly defining the content of genetic counseling,and further standardizing the informed consent implementation.%围绕非侵入性产前检测技术(NIPT)应用于唐氏产前筛查的知情同意与遗传咨询实施,总结分析了国际相关经验与研究,并结合我国国情提出了相关政策建议。建议加强相关人员培训,明确知情告知内容,进一步规范知情同意与遗传咨询的操作实施。

  14. Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening

    NARCIS (Netherlands)

    van Schendel, R.V.; Kleinveld, J.H.; Dondorp, W.J.; Pajkrt, E.; Timmermans, D.R.M.; Holtkamp, K.C.A.; Karsten, M.; Vlietstra, A.L.; Lachmeijer, A.M.A.; Henneman, L.

    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 Netherla

  15. Prenatal screening for congenital malformations: diagnosis and ...

    African Journals Online (AJOL)

    care of the pregnancy in terms of antenatal care, and referral for birth as ... photographed and only represent a proportion of all the malformed ... KEY WORDS: foetal malformafion, newborn deaths, prenatal care, pregnancy terminafion. Figure 1. Case 1 ... multiple methods, including ultrasound, are combined to make a ...

  16. Providing information about prenatal screening for Down syndrome

    DEFF Research Database (Denmark)

    Skjøth, Mette Maria; Draborg, Eva; Pedersen, Claus Duedal

    2015-01-01

    BACKGROUND: In recent decades there have been advances in the options for prenatal screening. Screening programmes for Down syndrome are well established in many countries. It is important that pregnant women are well informed about the benefits and risks of screening. A variety of interventions...... screening for Down syndrome. DESIGN: SYSTEMATIC REVIEW: METHODS: A systematic search was performed using the PUBMED and EMBASE databases. The search terms included MeSH terms and free text and were combined by Boolean terms (AND, OR) with no restriction on language or time. MAIN OUTCOME MEASURES: Main...... information about prenatal screening for Down syndrome can improve their ability to make an informed choice. This article is protected by copyright. All rights reserved....

  17. Prenatal screening: current practice, new developments, ethical challenges.

    Science.gov (United States)

    de Jong, Antina; Maya, Idit; van Lith, Jan M M

    2015-01-01

    Prenatal screening pathways, as nowadays offered in most Western countries consist of similar tests. First, a risk-assessment test for major aneuploides is offered to pregnant women. In case of an increased risk, invasive diagnostic tests, entailing a miscarriage risk, are offered. For decades, only conventional karyotyping was used for final diagnosis. Moreover, several foetal ultrasound scans are offered to detect major congenital anomalies, but the same scans also provide relevant information for optimal support of the pregnancy and the delivery. Recent developments in prenatal screening include the application of microarrays that allow for identifying a much broader range of abnomalities than karyotyping, and non-invasive prenatal testing (NIPT) that enables reducing the number of invasive tests for aneuploidies considerably. In the future, broad NIPT may become possible and affordable. This article will briefly address the ethical issues raised by these technological developments. First, a safe NIPT may lead to routinisation and as such challenge the central issue of informed consent and the aim of prenatal screening: to offer opportunity for autonomous reproductive choice. Widening the scope of prenatal screening also raises the question to what extent 'reproductive autonomy' is meant to expand. Finally, if the same test is used for two different aims, namely detection of foetal anomalies and pregnancy-related problems, non-directive counselling can no longer be taken as a standard. Our broad outline of the ethical issues is meant as an introduction into the more detailed ethical discussions about prenatal screening in the other articles of this special issue.

  18. Prenatal screening and diagnosis of genetic deafness by microarray%芯片检测结合测序技术在遗传性耳聋产前基因筛查与诊断中的应用

    Institute of Scientific and Technical Information of China (English)

    孙莲花; 李磊; 王晓雯; 朱亚忠; 柴永川; 李晓华; 吴皓; 杨涛

    2012-01-01

    Objective To evaluate a microarray-based mutation screening method for genetic deafness and its application in prenatal diagnosis.Methods Mutation screening of common deafness genes was performed in pregnant women and volunteers spouses.Nine common mutations in four major deafness genes,GJB2,GJB3,SLC26A4 and mitochondrial 12S rRNA,were detected simultaneously by a microarray-based method.Genetic counseling was given based on their testing results.Results 5.11% of pregnant women carried at least one mutation.Among them,seven carried mutation in the mitochondria 12S rRNA gene and were offered aminoglycoside-induced ototoxicity warning.For other mutation carriers of GJB2 or SLC26A4 genes,additional mutation screening was performed in their husbands by direct sequencing.A total of 20 couples were at risk of giving birth to children with genetic deafness.Of five couples who selected to undergo prenatal diagnostic testing of the fetus,four were diagnosed as wild type or heterozygous for the tested genes and one as p.V37I/c.235delC compound heterozygous for GJB2.Conclusions DNA microarray is a quick,easy and reliable method to screen mutations in genetic deafness genes.Application of this method in prenatal screening and diagnosis might effectively reduce the occurrence of genetic deafness.%目的 探讨遗传性耳聋基因检测芯片在中国孕妇人群常见遗传性耳聋基因突变位点检测中的作用,并评估其在遗传性耳聋产前诊断中的应用.方法 对3056例孕妇采集外周血并抽提DNA,采用遗传性耳聋基因芯片检测GJB2、SLC26A4、线粒体12S rRNA、GJB3等4个中国人群常见遗传性耳聋基因共9个突变热点.根据检测结果对有耳聋生育风险的夫妇提供遗传咨询与生育指导.结果 3056例孕妇中,共检测到156例携带至少一种基因突变,占总抽查人数的5.11%.其中7例为线粒体12S rRNA突变,预测后代亦为此突变携带者,需终生避免使用氨基糖苷类抗生素.149例

  19. Inadequate syphilis screening among women with prenatal care in a community with a high syphilis incidence.

    Science.gov (United States)

    Trepka, Mary Jo; Bloom, Sharon A; Zhang, Guoyan; Kim, Sunny; Nobles, Robert E

    2006-11-01

    This study was designed to evaluate the extent to which pregnant women in a community with a high syphilis incidence were screened for syphilis according to standard recommendations of twice during prenatal care and at labor and delivery. Labor and delivery records from 4 hospitals in Miami-Dade County, Florida, were abstracted to obtain maternal and prenatal care characteristics and syphilis screening practices. Of the 1991 women, records indicated that 1655 (83%) were screened at least once during prenatal care, 220 (11%) were screened twice during prenatal care before delivery, and 184 (9%) were screened twice during prenatal care and at delivery. Attending a private clinic, having more than adequate prenatal care and having private insurance were associated with not being screened at least twice before delivery. Few women were screened according to standard recommendations, and provider or institutional-related factors affected adequacy of screening.

  20. Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in India.

    Science.gov (United States)

    Tamhankar, Parag M; Agarwal, Sarita; Arya, Vandana; Kumar, Ravindra; Gupta, U R; Agarwal, S S

    2009-01-01

    To determine the feasibility and acceptability of premarital screening for beta thalassemia/related hemoglobinopathies followed by prenatal diagnosis in India. Premarital testing for thalassemia carrier state was carried out in (1) extended family members (EFM) of diagnosed cases of thalassemia/hemoglobinopathies, (2) unmarried adult cases of anemia attending the hospitals' outpatient department (OPD) and (3) adult college students (CG). Hemoglobin, red cell indices were measured by a cell counter and hemoglobin fractionation was carried out by high performance liquid chromatography (HPLC). In cases with HbA2>3.5%, or with variant hemoglobin, mutation screen was done by amplification refractory mutation system polymerase chain reaction (ARMS-PCR). In high-risk prospective couples, premarital genetic counseling was done and prenatal diagnosis possibilities were explained. The yield of carriers from EFM, OPD and CG groups was 78.17% (308/394), 19.51% (263/1348) and 4.04% (38/939), respectively. The number of prospective high-risk couples detected were 154, 48 and 2 from EFM, OPD and CG, respectively. As much as 99% of prospective carrier couples married even after knowing their high-risk status and opted for prenatal diagnosis. The program averted the birth of 33 thalassemic children; 28 in EFM group (by screening of 394 individuals), 4 in the OPD group (by screening 1348 anemic patients), and 1 in CG group (by screening of 939 students). Premarital screening in extended family members, followed by prenatal diagnosis is acceptable and the most effective strategy for control of thalassemia in developing countries like India. Copyright (c) 2008 John Wiley & Sons, Ltd.

  1. Genetic counseling and prenatal diagnosis: a multicultural perspective.

    Science.gov (United States)

    Puñales-Morejon, D

    1997-01-01

    More and more women are using prenatal tests to obtain specific information on the health of the developing fetus. The objective of genetic counseling is not to decrease the occurrence of genetic disease, it is to help individuals and families adjust to their genetic risks and make their own decisions in line with their reproductive goals and world views. Choices made by parent(s) will reflect their own intrapsychic processes as well as their own cultural and social understanding of genetic risk and disease. As prenatal testing continues to diagnose an ever growing number of genetic disorders, genetic counseling faces greater and greater challenges. Now more than ever before, genetic counseling must incorporate both psychological counseling and multiculturalism in order to serve diverse individuals and families at risk for genetic disease.

  2. Genetic Considerations in the Prenatal Diagnosis of Overgrowth Syndromes

    Science.gov (United States)

    Vora, Neeta; Bianchi, Diana W.

    2015-01-01

    Large (>90%) for gestational age (LGA) fetuses are usually identified incidentally. Detection of the LGA fetus should first prompt the provider to rule out incorrect dates and maternal diabetes. Once this is done, consideration should be given to certain overgrowth syndromes, especially if anomalies are present. The overgrowth syndromes have significant clinical and molecular overlap, and are associated with developmental delay, tumors, and other anomalies. Although genetic causes of overgrowth are considered postnatally, they are infrequently diagnosed prenatally. Here, we review prenatal sonographic findings in fetal overgrowth syndromes, including Pallister-Killian, Beckwith-Wiedemann, Sotos, Perlman, and Simpson-Golabi-Behmel. We also discuss prenatal diagnosis options and recurrence risks. PMID:19609940

  3. Prenatal screening costs at a large military treatment facility.

    Science.gov (United States)

    Shiv, Erin; Sale, Taylor J; Simsiman, Amanda; Leininger, William M; Lutgendorf, Monica A

    2017-07-01

    Prenatal screening with cell-free DNA (cfDNA) offers improved detection of Down syndrome (T21) compared to conventional screening. These tests are expensive and have fewer detectable anomalies. Our objective was to investigate potential costs and test performance of screening algorithms when accounting for detectable aneuploidies. This is a cost analysis for a large military treatment facility. Using a theoretical delivery cohort and published performance data, universal screening with cfDNA was compared to sequential screening, comparing T21 to all detectable aneuploidies. Predicted test performance and costs were calculated. A cohort of 3000 deliveries was used. For T21, universal cfDNA is more expensive ($1,346,064) than sequential screening ($244,885), but has a lower false positive rate and avoids 101 invasive diagnostic tests. An additional case of T21 is detected with a marginal cost of $1,101,179. For all detectable aneuploidies, cfDNA is more expensive ($1,353,660) than sequential screening ($239,189), and 59 invasive diagnostic tests are avoided. Sequential screening detects an additional case of aneuploidy, with a cost savings of $1,114,471. Although cfDNA is superior in detecting T21 cases, sequential screening is superior when considering all aneuploidies detectable. The cost increase with universal cfDNA is significant, and is not justified with small improvements in the performance.

  4. Effectiveness of Prenatal Screening for Hemoglobinopathies in a Developing Country.

    Science.gov (United States)

    Choudhuri, Soumita; Sen, Aditi; Ghosh, Malay Kumar; Misra, Sanjay; Bhattacharyya, Maitreyee

    2015-01-01

    The thalassemias are among the most common monogenic diseases worldwide, a national health burden in India. There are estimated 7500-12,000 babies born with β-thalassemia major (β-TM) every year in this country. Couples who are at-risk of having children with hemoglobin (Hb) disorders desired to have the option of avoiding the birth of an affected child by prenatal diagnosis (PND). Thus, the prenatal women are a highly important target group for carrier screening and preventing the birth of thalassemic children in the country. The present study was conducted among 20,883 pregnant women, irrespective of gravida and duration of pregnancy, from the prenatal clinic of Nilratan Sarkar (NRS) Medical College & Hospital, Kolkata, West Bengal, India, from February 2009 to November 2012. Thalassemia carrier status was assessed by high performance liquid chromatography (HPLC) along with red blood cell (RBC) indices. Husbands of all thalassemia carrier women were advised and persuaded to undergo screening for hemoglobinopathies. The couples were counseled to undergo PND if both of them were detected to be thalassemia carriers. The data were statistically analyzed to evaluate the efficacy of this procedure.

  5. Structural chromosomal anomalies detected by prenatal genetic diagnosis: our experience.

    Science.gov (United States)

    Farcaş, Simona; Crişan, C D; Andreescu, Nicoleta; Stoian, Monica; Motoc, A G M

    2013-01-01

    The prenatal diagnosis is currently widely spread and facilitates the acquiring of important genetic information about the fetus by a rate extremely accelerate and considered without precedent. In this paper, we like to present our experience concerning the genetic diagnosis and counseling offered for pregnancies in which a structural chromosomal aberration was found. The study group is formed by 528 prenatal samples of amniotic fluid and chorionic villi, received by our laboratory from 2006 through October 2012 for cytogenetic diagnosis. The appropriate genetic investigation was selected based on the indications for prenatal diagnosis. The cases with structural chromosomal anomalies and polymorphic variants were analyzed as regard to the maternal age, gestational age, referral indications and type of chromosomal anomaly found. A total number of 21 structural chromosomal anomalies and polymorphic variants were identified in the study group. Out of 21 structural chromosomal anomalies and polymorphic variants, six deletions and microdeletions, four situations with abnormal long "p" arm of acrocentric chromosomes, two duplications, two reciprocal translocations, two inversions, two additions, one Robertsonian translocation associating trisomy 13, one 9q heteromorphism and one complex chromosome rearrangement were noticed. To the best of our knowledge, this is the first Romanian study in which the diagnostic strategies and the management of the prenatal cases with structural rearrangements are presented. The data provided about the diagnosis strategy and the management of the prenatal cases with structural chromosomal anomalies represents a useful tool in genetic counseling of pregnancies diagnosed with rare structural chromosomal anomalies.

  6. Noninvasive prenatal detection of genetic defects

    NARCIS (Netherlands)

    Oever, Jessica Maria Elisabeth van den

    2016-01-01

    Current prenatal diagnostics is mainly based on obtaining fetal DNA through invasive procedures such as chorionic villi sampling (CVS) or amniocentesis. These procedures are associated with a small, but significant risk of fetal loss. The discovery of the presence of cell-free fetal DNA (cffDNA) in

  7. Moving up the slippery slope: mandated genetic screening on Cyprus.

    Science.gov (United States)

    Cowan, Ruth Schwartz

    2009-02-15

    Many social scientists and bioethicists have argued that genetic screening is a new form of eugenics. Examination of the development of the quasi-mandated screening program for beta-thalassemia in the Republic of Cyprus (1970-1984) demonstrates that there is nothing eugenic about modern genetic screening practices. The Cypriot screening program involves mandated premarital carrier screening, voluntary prenatal diagnosis (originally through fetoscopy, now through CVS), and voluntary termination of afflicted pregnancies-all at public expense. In the Republic of Cyprus, the mandating agency for genetic screening is the established church, so this examination also demonstrates that religious authorities with profound objections to abortion can balance that moral precept against others, such as the imperative to reduce suffering that sometimes conflict with it. (c) 2009 Wiley-Liss, Inc.

  8. Optimal screening for genetic diseases.

    Science.gov (United States)

    Nævdal, Eric

    2014-12-01

    Screening for genetic diseases is performed in many regions and/or ethnic groups where there is a high prevalence of possibly malign genes. The propagation of such genes can be considered a dynamic externality. Given that many of these diseases are untreatable and give rise to truly tragic outcomes, they are a source of societal concern, and the screening process should perhaps be regulated. This paper incorporates a standard model of genetic propagation into an economic model of dynamic management to derive cost benefit rules for optimal screening. The highly non-linear nature of genetic dynamics gives rise to perhaps surprising results that include discontinuous controls and threshold effects. One insight is that any screening program that is in place for any amount of time should screen all individuals in a target population. The incorporation of genetic models may prove to be useful to several emerging fields in economics such as genoeconomics, neuroeconomics and paleoeconomics.

  9. Karyotype analysis with amniotic fluid in 12365 pregnant women with indications for genetic amniocentesis and strategies of prenatal diagnosis.

    Science.gov (United States)

    Xiao, H; Yang, Y L; Zhang, C Y; Liao, E J; Zhao, H R; Liao, S X

    2016-01-01

    We explored the strategies of prenatal diagnosis by foetal karyotype analysis in pregnant women with indications for genetic amniocentesis. Karyotype analysis of amniotic fluid was performed on 12365 pregnant women with indications for genetic amniocentesis. The detection rates and distributions of abnormal karyotypes were observed in a variety of indications for genetic amniocentesis. The detection rates of abnormal karyotype were 57.4% in either a mother or father with chromosomal abnormality, 8.5% in the pregnant women with pathological ultrasound finding (PUF), 2.79% in the pregnant women with advanced age (35 years and over) and 2.23% in the women with abnormal maternal serum screening (MSS) tests. Foetal abnormal karyotype was found in 86 pregnant women with PUF; of the 86 pregnant women, 42 had trisomy 13, 18 or 21. Of the 12365 pregnant women, foetal abnormal karyotype was found in 428 (3.46%); of the 428 foetuses, only 154 had trisomy 13, 18 or 21. In the pregnant women with abnormal MSS, 111 foetuses had abnormal karyotype, but only 36 foetuses had trisomy 13, 18 or 21. We conclude that (1) ultrasound is an important approach to prevent the birth of foetuses with chromosomal disease. (2) Non-invasive prenatal DNA detection cannot completely replace invasive prenatal diagnosis and MSS. (3) The strategies of prenatal diagnosis: Genetic amniocentesis is strongly recommended for the pregnant women with indications for genetic amniocentesis. For pregnant women who refuse invasive prenatal diagnosis, non-invasive prenatal DNA detection is first performed. If the results of non-invasive prenatal DNA detection are negative, the pregnant women are followed up by ultrasound; if the results of non-invasive prenatal DNA detection are positive, the pregnant women should undergo invasive prenatal diagnosis.

  10. Patients' Knowledge of Prenatal Screening for Trisomy 21.

    Science.gov (United States)

    Sheinis, Michal; Bensimon, Kira; Selk, Amanda

    2017-07-14

    This study's objective was to assess the knowledge of prenatal screening for Trisomy 21 in pregnant women in one institution in Canada. A cross-sectional survey measuring demographics, knowledge of screening, and health literacy, was administered to pregnant women. Of the 135 women who completed the survey, 74% had adequate knowledge of Trisomy 21 and associated screening procedures. Twenty-eight point one percent of women did not receive any counseling. Overall, 29.5% of women did not know that the screening test was optional and 10.2% of women underwent screening prior to having been counseled. Multigravidity (p < 0.05) and prior counseling (p < 0.001) were positively correlated with knowledge while first language other than English (p < 0.001) was negatively correlated with knowledge. Given these findings, an effort needs to be made on the part of health care providers to increase counseling rates to 100%, stressing the optional nature of the test to attain true informed consent.

  11. Spanish- and English-Speaking Pregnant Women's Views on cfDNA and Other Prenatal Screening: Practical and Ethical Reflections.

    Science.gov (United States)

    Floyd, Erin; Allyse, Megan A; Michie, Marsha

    2016-10-01

    The rapid clinical implementation of cell-free DNA (cfDNA) screening, a non-invasive method of prenatal genetic screening, has outpaced research on its social and ethical implications. This study is the first to compare the ethical and practical views of Spanish- and English-speaking pregnant women in the United States about cfDNA screening. Semi-structured interviews were conducted with diverse Spanish- and English-speaking women who had received prenatal care at a large academic medical center. Of the 24 interviewees, ten were Latinas who were interviewed in Spanish; English-language interviews were conducted with seven non-Hispanic Asian and seven non-Hispanic White women. Participants held positive opinions concerning the accuracy of cfDNA screening and often noted that it would enhance preparedness. Participants also expressed concerns about the possibility of inaccurate results and the potentially negative effects of cfDNA screening on the experience of pregnancy. Differences emerged between Spanish and English speakers in their portrayals of their relationships with prenatal health care providers, the extent to which they questioned providers' advice, their ethical concerns, and their informational needs. We emphasize the importance of customizing prenatal test counseling to the needs of the individual patient, providing educationally appropriate counseling and literature, and mitigating potential language barriers.

  12. Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening.

    Science.gov (United States)

    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

    2014-12-01

    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 Netherlands). Five focus groups with low-risk pregnant women (n=28), three focus groups with men (n=19) and 13 interviews with high- and low-risk pregnant women were conducted. Participants felt that current prenatal screening has great disadvantages such as uncertain results and risk of miscarriage from follow-up diagnostics. Characteristics of NIPT (accurate, safe and early testing) could therefore diminish these disadvantages of prenatal screening and help lower the barrier for participation. This suggests that NIPT might allow couples to decide about prenatal testing based mostly on their will to test or not, rather than largely based on fear of miscarriage risk or the uncertainty of results. The lower barrier for participation was also seen as a downside that could lead to uncritical use or pressure to test. Widening the scope of prenatal testing was seen as beneficial for severe disorders, although it was perceived difficult to determine where to draw the line. Participants argued that there should be a limit to the scope of NIPT, avoiding testing for minor abnormalities. The findings suggest that NIPT could enable more meaningful decision-making for prenatal screening. However, to ensure voluntary participation, especially when testing for multiple disorders, safeguards on the basis of informed decision-making will be of utmost importance.

  13. 'He's the dad isn't he?' Gender, race and the politics of prenatal screening.

    Science.gov (United States)

    Reed, Kate

    2011-01-01

    Men's involvement in prenatal screening is becoming increasingly important. However, despite the potentially significant role of fathers in haemoglobinopathy screening, their participation is under researched. Furthermore, the portrayal of Black and minority ethnic (BME) fathers tends to be based on persisting stereotypes of men as either absentee parents with limited roles in screening or as controlling decision-makers. To describe the influence of ethnicity and gender on the process of participation of men in antenatal screening for sickle cell and thalassaemia. A qualitative study, using in-depth interviews and focus groups with 22 pregnant women from a range of socio-economic and ethnic backgrounds, 16 male partners and 15 midwives in a northern city in the UK. Men from BME groups take a pragmatic and equitable role in screening with their partners. White British men on the other hand, while willing to participate in screening, take a more casual view of their own direct participation. Accounts from hospital midwives supported these findings. While acknowledging the importance of material connections between certain BME groups and blood disorders, two key issues are raised. First, BME men's involvement contribute a challenge towards existing assumptions often made about BME fathers. Second, White British men's participation can be useful in determining the genetic status of the foetus and therefore their role should not be neglected. Screening research and practice need to broaden out their focus on issues of gender, ethnicity and screening.

  14. 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.

  15. [Huntington disease: presymptomatic testing, prenatal diagnosis, preimplantation genetic diagnosis experience].

    Science.gov (United States)

    Durr, A; Viville, S

    2007-10-01

    Presymptomatic testing for Huntington disease has been available for 15 years. The possibility of determining the genetic status of an at-risk person for the disorder which runs in his or her family raises questions because of the absence of preventive treatments. In addition, being carrier does not allow to determine when the disease starts and how it will evolve, impairing the possibilities of planning the future. A pluridisciplinary approach to predictive testing with care before, during and after the test taking into account the medical, social and psychological aspects of the disease is good practice. At the present time, only a minority of at-risk individuals request presymptomatic testing and almost 50% do not pursue until the results. The consequences of the test may be harmful, more frequently after an unfavorable than after a favorable result. Motivations and the outcome in terms of request for prenatal testing after a carrier result are known today and the number or prenatal testing remains very limited. Preimplantation genetic testing is an alternative for couples who knows or do not their own genetic status. We report our experience in two French centres: Paris for presymptomatic and prenatal testing and Strasbourg for preimplantation diagnosis.

  16. Spiritual Exploration in the Prenatal Genetic Counseling Session.

    Science.gov (United States)

    Sagaser, Katelynn G; Shahrukh Hashmi, S; Carter, Rebecca D; Lemons, Jennifer; Mendez-Figueroa, Hector; Nassef, Salma; Peery, Brent; Singletary, Claire N

    2016-10-01

    Religion and spirituality (R/S) are important components of many individuals' lives, and spirituality is often employed by women coping with pregnancy complications. To characterize how prenatal genetic counselors might address spiritual issues with patients, 283 English and Spanish speaking women receiving prenatal genetic counseling in Houston, Texas were surveyed post-counseling using both the Brief RCope and questions regarding interest in spiritual exploration. Genetic counselors were concurrently surveyed to identify religious/spiritual language used within sessions and perceived importance of R/S. Genetic counselors were significantly more likely to identify R/S as important to a patient when patients used religious/spiritual language (p spiritual terms were present, the counselor felt uncertain about the importance of R/S 63 % of the time. However, 67 % of patients reported that they felt comfortable sharing their faith as it relates to their pregnancy, and 93 % reported using positive religious coping. Less than 25 % reported a desire for overt religious actions such as prayer or scripture exploration. Therefore, most patients' desires for spiritual exploration center in the decision making and coping processes that are in line with the genetic counseling scope of practice. Thus, counselors should feel empowered to incorporate spiritual exploration into their patient conversations.

  17. Screening of potential biomarkers for prenatal diagnosis of trisomy 21.

    Science.gov (United States)

    Ma, Ke; Li, Feng; Yu, Yang; Li, Haibo

    2017-05-01

    We aimed to identify key genes located on chromosome 21 as potential biomarkers for prenatal diagnosis of trisomy 21 (Ts21). The microarray data of GSE48051, including 10 cultivated amniocyte samples with Ts21 and 9 controls with normal euploid constitution, was obtained from Gene Expression Omnibus database. The differentially expressed genes (DEGs) in cultivated amniocyte samples with Ts21 compared to normal controls were screened using limma package. Then, we performed GO enrichment analysis using DAVID and chromosomal location of DEGs based on the information of the University of California Santa Cruz (UCSC) Genome Browser Database. Finally, protein-protein interaction (PPI) network analysis was performed using STRING. Total 155 DEGs in cultivated amniocyte samples with Ts21 were identified, including 89 up- and 66 down-regulated DEGs. The over-represented GO terms of DEGs were mainly related with apoptosis, programmed cell death and cell death. In total, 13 DEGs were located on chromosome 21, thereinto, only 6 DEGs were included into the PPI network, including superoxide dismutase 1 (SOD1), phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), downstream neighbour of SON (DONSON), ATP synthase, H + transporting, mitochondrial F1 complex, O subunit (ATP5O), chromatin assembly factor 1, subunit B (p60) (CHAF1B) and proteasome (prosome, macropain) assembly chaperone 1 (PSMG1). Our results suggest that SOD1, GART, DONSON, ATP5O, CHAF1B and PSMG1 may play important roles in the pathogenesis of Down syndrome and may serve as potential biomarkers for prenatal diagnosis of Ts21.

  18. Non―invasive prenatal screening for chromosomal abnormalities ...

    African Journals Online (AJOL)

    Cláudia Amorim Costa

    2016-08-27

    Aug 27, 2016 ... time its implementation as a universal prenatal aneuploidy screening. ... reaction. * Corresponding author at: Rua Doutor Anto´nio Macedo 309, 3° esquerdo. ..... Recently, Wald and Bestwick proposed a reflex DNA test-.

  19. Clients' psychosocial communication and midwives' verbal and nonverbal communication during prenatal counseling for anomaly screening

    NARCIS (Netherlands)

    Martin, L.; Gitsels-van der Wal, J.T.; Pereboom, M.T.; Spelten, E.R.; Hutton, E.K.; Dulmen, A.M. van

    2016-01-01

    OBJECTIVES: This study focuses on facilitation of clients' psychosocial communication during prenatal counseling for fetal anomaly screening. We assessed how psychosocial communication by clients is related to midwives' psychosocial and affective communication, client-directed gaze and counseling du

  20. Clients’ psychosocial communication and midwives’ verbal and nonverbal communication during prenatal counseling for anomaly screening.

    NARCIS (Netherlands)

    Martin, L.; Gitsels-van der Wal, J.T.; Pereboom, M.T.R.; Spelten, E.R.; Hutton, E.K.; Dulmen, S. van

    2016-01-01

    Objectives: This study focuses on facilitation of clients’ psychosocial communication during prenatal counseling for fetal anomaly screening. We assessed how psychosocial communication by clients is related to midwives’ psychosocial and affective communication, client-directed gaze and counseling du

  1. Clients’ psychosocial communication and midwives’ verbal and nonverbal communication during prenatal counseling for anomaly screening.

    NARCIS (Netherlands)

    Martin, L.; Gitsels-van der Wal, J.T.; Pereboom, M.T.R.; Spelten, E.R.; Hutton, E.K.; Dulmen, S. van

    2016-01-01

    Objectives: This study focuses on facilitation of clients’ psychosocial communication during prenatal counseling for fetal anomaly screening. We assessed how psychosocial communication by clients is related to midwives’ psychosocial and affective communication, client-directed gaze and counseling du

  2. Measurement of fetal maxillary and mandibular angles for first-trimester prenatal screening among Taiwanese women

    Directory of Open Access Journals (Sweden)

    Fan-Hlan Koo

    2014-08-01

    Conclusion: Normative data for ultrasonographic measurements of maxillary and mandibular angles among the Taiwanese population are presented. Our results may serve as reference values in congenital anomaly screening during prenatal examination.

  3. Research and analysis of Foshan prenatal screening and prenatal diagnosis%佛山地区产前筛查与产前诊断分析研究

    Institute of Scientific and Technical Information of China (English)

    邓璐莎; 郭晓玲; 钟进; 陈志华; 邓秀珍

    2012-01-01

    Objective: Research and analysis of Foshan prenatal screening and prenatal diagnosis. Methods; Since Jun. 2006 -Dec. 2008 to our hospital for prenatal care of pregnant women a total of 41 656 cases, of which 29, 101 cases of voluntary line sero-logical screening, gestational age 15 -25 weeks, age 21 -42 Years, mean age was 25. 73 years. Routine ultrasound screening has 41 333,gestational age 11 -36 weeks. Down's screening and B - ultrasound screening results for the high - risk pregnant women for genetic counseling, prenatal diagnosis confirmed the recommendations. Method of prenatal diagnosis by amniocentesis or transabdomi-nal amniotic fluid cells cultured umbilical vein cord blood cell culture, chromosome with G band staining. Results: The screening of 29 101 cases in the serum of pregnant women in high - risk screening 3227 cases, the positive rate was 11. 1%. High risk of trisomy 21 in which 1287 cases, accounting for 4.4% ; high risk of trisomy 18 423 cases, accounting for 1.45%. Serum screening in the 3227 cases of high - risk pregnant women receive prenatal diagnosis were 1065 cases, accounting for 33% (1065/3227). Abnormal karyotypes of 100 patients, accounting for 12.49% , accounting for 4.12% of high - risk pregnant women (100/3227 ). There are 19 cases of trisomy 21, 2 cases of trisomy 18 detection rate was 1.97% (21/1065) , a total of 21 cases of chromosome abnormalities 21% (21/100). With 41 333 routine ultrasound screening, ultrasound screening for high risk of 851 cases, the positive rate was 2.06%. 206 cases of prenatal diagnosis, chromosomal abnormalities in 45 cases, accounting for 21. 84% (45/206), Check out of 5 cases of trisomy 21, trisomy 18 in 8 cases, 1 case of trisomy 13, accounting for 31.11% of chromosomal abnormalities (14/45). Conclusion: The maternal age, serology testing and prenatal ultrasound screening for Down syndrome screening methods significantly improve the positive rate of screening, through prenatal screening, the screening

  4. Impact of the increased adoption of prenatal cfDNA screening on non-profit patient advocacy organizations in the United States.

    Science.gov (United States)

    Meredith, Stephanie; Kaposy, Christopher; Miller, Victoria J; Allyse, Megan; Chandrasekharan, Subhashini; Michie, Marsha

    2016-08-01

    The 'Stakeholder Perspectives on Noninvasive Prenatal Genetic Screening' Symposium was held in conjunction with the 2015 annual meeting of the International Society for Prenatal Diagnosis. During the day-long meeting, a panel of patient advocacy group (PAG) representatives discussed concerns and challenges raised by prenatal cell-free DNA (cfDNA) screening, which has resulted in larger demands upon PAGs from concerned patients receiving prenatal cfDNA screening results. Prominent concerns included confusion about the accuracy of cfDNA screening and a lack of patient education resources about genetic conditions included in cfDNA screens. Some of the challenges faced by PAGs included funding limitations, lack of consistently implemented standards of care and oversight, diverse perspectives among PAGs and questions about neutrality, and lack of access to training and genetic counselors. PAG representatives also put forward suggestions for addressing these challenges, including improving educational and PAG funding and increasing collaboration between PAGs and the medical community. © 2016 John Wiley & Sons, Ltd.

  5. Disentangling the effects of genetic, prenatal and parenting influences on children’s cortisol variability

    OpenAIRE

    MARCEAU, KRISTINE; Ram, Nilam; Neiderhiser, Jenae M.; Laurent, Heidemarie K.; Daniel S Shaw; Fisher, Phil; Natsuaki, Misaki N.; Leve, Leslie D.

    2013-01-01

    Developmental plasticity models hypothesize the role of genetic and prenatal environmental influences on the development of the hypothalamic–pituitary–adrenal (HPA) axis and highlight that genes and the prenatal environment may moderate early postnatal environmental influences on HPA functioning. This article examines the interplay of genetic, prenatal and parenting influences across the first 4.5 years of life on a novel index of children’s cortisol variability. Repeated measures data were o...

  6. Parental duties and prenatal screening: Does an offer of prenatal screening lead women to believe that they are morally compelled to test?

    NARCIS (Netherlands)

    Garcia, E.; Timmermans, D.R.; Leeuwen, E. van

    2012-01-01

    BACKGROUND: in debates around prenatal screening, it is frequently argued that responsible parenthood implies the acquisition of all available medical information about the health of a fetus, and use of this information to benefit the future child. OBJECTIVE: to analyse whether an offer of a

  7. Parental duties and prenatal screening: Does an offer of prenatal screening lead women to believe that they are morally compelled to test?

    NARCIS (Netherlands)

    Garcia, E.; Timmermans, D.R.; Leeuwen, E. van

    2012-01-01

    BACKGROUND: in debates around prenatal screening, it is frequently argued that responsible parenthood implies the acquisition of all available medical information about the health of a fetus, and use of this information to benefit the future child. OBJECTIVE: to analyse whether an offer of a prenata

  8. Parental duties and prenatal screening: Does an offer of prenatal screening lead women to believe that they are morally compelled to test?

    NARCIS (Netherlands)

    Garcia, E.; Timmermans, D.R.; Leeuwen, E. van

    2012-01-01

    BACKGROUND: in debates around prenatal screening, it is frequently argued that responsible parenthood implies the acquisition of all available medical information about the health of a fetus, and use of this information to benefit the future child. OBJECTIVE: to analyse whether an offer of a prenata

  9. [Non-invasive Genetic Prenatal Testing - A Serious Challenge for Society as a Whole].

    Science.gov (United States)

    Zerres, K

    2015-04-01

    Non-invasive genetic prenatal tests nowadays allow a highly reliable identification of pregnancies with foetal aneuploidies. Due to the general availability of these tests for all pregnant women, non-invasive genetic prenatal testing raises many ethical questions whieh can only be answered by a debate focused on society as a whole.

  10. A prenatal case with discrepant findings between non-invasive prenatal testing and fetal genetic testings.

    Science.gov (United States)

    Pan, Qiong; Sun, Baojuan; Huang, Xiaoli; Jing, Xin; Liu, Hailiang; Jiang, Fuman; Zhou, Jie; Lin, Mengmeng; Yue, Hongni; Hu, Ping; Ning, Ying

    2014-01-01

    At 17(+4) week, non-invasive prenatal testing (NIPT) results of a 24-years-old mother showed high risk of monosomy X (45, X). Abnormally shaped head and cardiac defects were observed in prenatal ultrasound scan at 19(+3) week. Amniocentesis conducted at 19(+3) week identified karyotype 47, XX, +18, which suggested that the NIPT failed to detect trisomy 18 (T18) in this case. With a further massively parallel sequencing (MPS) of maternal blood, fetal and placental tissues, we found a confined placental mosaicism (CPM) with non-mosaic T18 fetus and multiclonal placenta with high prevalence of 45, X and low level of T18 cells. FISH and SNP-array evidence from the placental tissue confirmed genetic discrepancy between the fetus and placenta. Because the primary source of the fetal cell-free DNA that NIPT assesses is mostly originated from trophoblast cells, the level of T18 placental mosaicism may cause false negative NIPT result in this rare case of double aneuploidy.

  11. Detection of critical congenital heart defects: Review of contributions from prenatal and newborn screening.

    Science.gov (United States)

    Olney, Richard S; Ailes, Elizabeth C; Sontag, Marci K

    2015-04-01

    In 2011, statewide newborn screening programs for critical congenital heart defects began in the United States, and subsequently screening has been implemented widely. In this review, we focus on data reports and collection efforts related to both prenatal diagnosis and newborn screening. Defect-specific, maternal, and geographic factors are associated with variations in prenatal detection, so newborn screening provides a population-wide safety net for early diagnosis. A new web-based repository is collecting information on newborn screening program policies, quality indicators related to screening programs, and specific case-level data on infants with these defects. Birth defects surveillance programs also collect data about critical congenital heart defects, particularly related to diagnostic timing, mortality, and services. Individuals from state programs, federal agencies, and national organizations will be interested in these data to further refine algorithms for screening in normal newborn nurseries, neonatal intensive care settings, and other special populations; and ultimately to evaluate the impact of screening on outcomes.

  12. Decision‐making process of prenatal screening described by pregnant women and their partners

    National Research Council Canada - National Science Library

    Wätterbjörk, Inger; Blomberg, Karin; Nilsson, Kerstin; Sahlberg‐Blom, Eva

    2015-01-01

    ... describe complex feelings regarding the risk assessment. The decision making about prenatal screening has been described as easy by some women who viewed the decision as a mere formality and a confirmation that all is well. Women have also described decision making on screening as a process in which they considered their own...

  13. 1998-2010年珠海市地中海贫血大规模人群的遗传筛查和产前诊断结果分析%Large-scale population-based genetic screening and prenatal diagnosis for thalassemias in Zhuhai City of Guangdong Province

    Institute of Scientific and Technical Information of China (English)

    周玉球; 商璇; 尹保民; 熊符; 肖奇志; 周万军; 张永良; 徐湘民

    2012-01-01

    thalassemias testing and referred for follow-up and for genetic counseling.The couples for premarital medical examination or regular healthcare examination in pregnancy were enrolled to this preventive control program.A conventional strategy of screening for heterozygote was used to identify the α- and β-thalassemia traits in women and their spouses according to the standard procedures of hematological phenotype analysis which was recommended by Thalassemia International Federation (T IF).Then those suspected couples at risk were diagnosed for α- and β-thalassemia by PCR-based DNA assays.The couples at risk for severe thalassemias were counseled and offered prenatal diagnosis and termination of pregnancy in case of an affected fetus in the rights of consent and of option voluntarily.Results From January 1998 to December 2010,85 522 brides and grooms-to-be for premarital screening and 41 503 pregnant women in addition to 14 141 partners for prenatal screening were recorded,the covering rates of premarital screening and prenatal screening in the city were 92.698% (from 1998 to 2003) and 27.667% (from 2004 to 2010),respectively.Totally 10 726 cases were found to be the carriers of thalassemias,with 7393 for o-thalassemia (5.237%,7 393/141 166) and 3333 for β-thalassemia (2.361%,3 333/141 166).A total of 257 couples at-risk for severe thalassemias were detected including 190 for α-thalassemia and 67 for β-thalassemia.Among them,251 (97.7%,251/257) couples were performed prenatal diagnosis.During the preventive control program,a total of 72 fetuses with severe thalassemias including hemoglobin H disease were voluntarily terminated.In Zhuhai City,the average annual birth rate of fetuses with severe thalassemia was declined by 32.9% (49/149).Conclusions This study has reduced effectively birth rate of perinatal infants with severe thalassemias in Zhuhai City by genetic screening and prenatal diagnosis of thalassemia in the large population of 13 years.Our summary

  14. Newborn genetic screening: blessing or curse?

    Science.gov (United States)

    Kenner, C; Amlung, S

    1999-10-01

    Newly discovered genes and advances in genetic screening programs prompt many questions reflecting the kinds of ethical dilemmas that go hand in hand with life-changing discoveries. Neonatal genetic screening has been a standard of care for some time, but as our knowledge in the field of genetics expands, should we continue with the same approach? What newborn genetic screening tests should be mandatory, and what are the long-range consequences associated with testing? This article reviews genetic modes of inheritance, outlines and explains the most common newborn screening tests, and enumerates the ethical issues associated with these screening procedures. The role of the neonatal nurse in the newborn genetic screening process is discussed.

  15. Georgia prenatal care providers' perceptions of barriers to sexually transmitted disease screening.

    Science.gov (United States)

    Barnes, Rheta S; Anderson, Lynda A; Weisbord, Joanna S; Koumans, Emilia; Toomey, Kathleen E

    2003-09-01

    Evidence suggests that sexually transmitted disease (STD) screening during pregnancy is not optimal. No published studies have systematically examined barriers that hinder routine STD screening. This study examines prenatal care providers' perceptions about barriers to routine STD screening of pregnant women. Using a conceptual framework, four a priori barrier categories were developed: provider, patient, organizational, and structural. Responses to a question on barriers to STD screening in a 1998 mail survey of Georgia prenatal care providers were qualitatively classified into one of these categories. Of the 293 providers who responded, 71% identified structural barriers, with 52% citing inadequate reimbursement. These respondents were most likely to name barriers categorized as structural, not patient, provider, or organization issues. Efforts to improve STD screening of pregnant women should include a focus on structural level interventions, such as instituting health care policies that provide adequate reimbursement for routine STD screening during pregnancy.

  16. Participation in prenatal screening tests and intentions concerning selective termination in Finnish maternity care

    DEFF Research Database (Denmark)

    Santalahti, P; Hemminki, E; Aro, A R

    1999-01-01

    AIMS: The study examined how prenatal screening tests are presented to women, factors associated with women's participation in screening, their experience of decision-making and intentions concerning pregnancy termination, and hospital data on rates of selective terminations. METHODS: Questionnai...... in screening and with intentions about selective termination, women's perceptions of lives of the disabled should receive more attention in future studies.......AIMS: The study examined how prenatal screening tests are presented to women, factors associated with women's participation in screening, their experience of decision-making and intentions concerning pregnancy termination, and hospital data on rates of selective terminations. METHODS...... asking about selective terminations following detected fetal disorders were sent in 1993 to all public hospitals with obstetrics or gynaecology departments (response rate 100%). RESULTS: The serum screening test had usually been offered to women as a free choice, but for 22% of them it was presented...

  17. Current problems regarding abortion, prenatal genetic testing and managing pregnancy

    Directory of Open Access Journals (Sweden)

    Klajn-Tatić Vesna

    2011-01-01

    Full Text Available Current ethical and legal issues with regard to abortion, prenatal genetic testing and managing pregnancy are discussed in this paper. These problems are considered from the legal theory point of view as well as from the standpoint of the Serbian Law, the European Convention for the Protection of Human Rights and Fundamental Freedoms, European Court of Human Rights, legal regulations of several EU countries, the USA, Japan, and their judicial practice. First, the pregnancy termination standards that exist in Serbia are introduced. Then the following issues are explained separately: the pro life and pro choice approaches to abortion; abortion according to the legal approach as a way of survival; the moral and legal status of the fetus; prenatal genetic testing, and finally matters regarding managing pregnancy today. Moral and legal principals of autonomy, namely freedom of choice of the individual, privacy and self-determination give women the right to terminate unwanted pregnancies. In addition, the basic question is whether the right of the woman to abortion clashes with the rights of others. Firstly, with the right of the "fetus to life". Secondly, with the right of the state to intervene in the interest of protecting "the life of the fetus". Third, with the rights of the woman’s partner. The fetus has the moral right to life, but less in relation to the same right of the woman as well as in relation to her right to control her life and her physical and moral integrity. On the other hand, the value of the life of the fetus increases morally and legally with the maturity of gestation; from the third trimester, the interest of the state prevails in the protection of the "life of the fetus" except when the life or health of the pregnant woman are at risk. As regards the rights of the woman’s partner, namely the husband’s opinion, there is no legal significance. The law does not request his participation in the decision on abortion because

  18. Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population.

    Science.gov (United States)

    Kornreich, Ruth; Ekstein, Josef; Edelmann, Lisa; Desnick, Robert J

    2004-01-01

    Since the early 1990s, Dor Yeshorim (DY) and the Mount Sinai School of Medicine (MSSM) have conducted premarital and prenatal carrier screening for cystic fibrosis (CF) in the Ashkenazi Jewish (AJ) population as part of their genetic testing programs, respectively. Together, over 170,000 screenees have been tested. In this study, we report the CF mutation frequencies in over 110,000 screenees who reportedly were of 100% AJ descent from the DY program and MSSM. In addition, the CF mutation frequencies in a group of > 7,000 screenees for AJ diseases who were of T (0.0020), and N1303K (0.0016), among screenees who were 100% AJ was 1 in 26; when D1152H and the rare 1717-1G>A were included, the overall carrier frequency increased to approximately 1 in 23. In four families with D1152H, five compound heterozygotes for D1152H and W1282X (n = 2), DeltaF508 (1) or 3849+10kb C>T (1) were identified. In contrast, the carrier frequency for screenees reporting screening the AJ population should be considered because compound heterozygosity is associated with a variable disease phenotype. Further studies to delineate the phenotype of CF patients with this mutation are needed.

  19. 福建省莆田地区地中海贫血的产前筛查和基因诊断研究%Prenatal Screening and Genetic Diagnosis of the Mediterranean Anemia in Putian Region, Fujian

    Institute of Scientific and Technical Information of China (English)

    林华; 俞柳敏; 林素霞; 王志萍

    2016-01-01

    目的:调查莆田地区孕妇地中海贫血基因类型及分布情况。方法对2014年1月至2015年12月在我院门诊产检的5618例孕妇进行血常规筛查,经MCV、 MCH初步筛查后,阳性指征者进行基因分析。结果5618例孕妇中,130例确诊为地中海贫血,比例为2.31%。α地中海贫血共检出5种基因型,最常见基因型为———SEA (62例),占比47.69%;—α3.7(13例),占比10.0%。β地中海贫血50例,比例为0.91%,共检出7种基因型,最常见的有IVS-II-654/N (28例)占比21.54%、 CD41-42/N (10例)占比7.69%和CD17/N (5例)占比3.84%。结论明确莆田地区地中海贫血分布规律,加强产前筛查和诊断,预防重型地中海贫血患儿出生,提高人口素质。%Objective To investigate the genotypes of Mediterranean anemia and the distribution situation of pregnant women in putian region. Methods 5 618 cases who took the pregnancy check-ups in the outpatient clinic of our hospital were filtrated based on Blood-RT. According to the result of preliminary screening of MCV and MCH, Gene analysis of cases with positive indication were un-dertaken. Results Among 5 618 cases of pregnant women, 130 cases were diagnosed with the Mediterranean anemia, accounting for 2. 31%. 5 genotypes were detected of α Mediterranean anemia, among which ———SEA (62 cases) is the most common genotype ac-counting for 47. 69%, —α3. 7 (13 cases) accounting for 10. 0%. There were 50 cases of β Mediterranean anemia, accounting for 0. 91%. A total of 7 genotypes were detected. The most common one is IVS - II - 654 / N (28 cases) accounting for 21. 54%, CD41-42 / N (10 cases) accounting for 7. 69% and CD17 / N (5 cases) accounting for 3. 84%. Conclusion Make the distribution regularities of the Mediterranean anemia in putian region clear, strengthen the prenatal screening and diagnosis, prevent the birth of infants with heavy Mediterranean anemia and improve population quality.

  20. From Down syndrome screening to noninvasive prenatal testing: 20 years' experience in Taiwan.

    Science.gov (United States)

    Shaw, S W Steven; Chen, Chih-Ping; Cheng, Po-Jen

    2013-12-01

    Down syndrome is the most common autosomal chromosome aneuploidy. The prenatal Down syndrome screening protocol has been known in Taiwan for the past 20 years. The maternal serum double markers required for the screening test was first implemented into the general prenatal check-up back in 1994, where it had around a 60% detection rate at a 5% false positive rate. The first trimester combined test was started in 2005, and the maternal serum quadruple test was introduced in 2008 to replace the previous double test. The overall detection rate for the current screening strategies (first trimester combined or second trimester quadruple test) in Taiwan ranges between 80% and 85% at a fixed 5% false positive rate. Noninvasive prenatal testing (NIPT) is the latest powerful fetal aneuploidy detection method and has become commercially available in Taiwan starting from 2013. The sensitivity and specificity for NIPT are very high (both over 99%) according to large worldwide studies. Our preliminary data for NIPT from 11 medical centers in Taiwan have also shown a 100% detection rate for Down syndrome and Edwards syndrome, respectively. Invasive chromosome studies such as amniocentesis or chorionic villus sampling cannot be replaced by NIPT, and all prenatal screening and NIPT results require confirmation using invasive testing. This review discusses the Down syndrome screening method assessments and the progress of NIPT in Taiwan.

  1. Exploring general practitioners' experience of informing women about prenatal screening tests for foetal abnormalities: A qualitative focus group study

    Directory of Open Access Journals (Sweden)

    Meiser Bettina

    2008-05-01

    Full Text Available Abstract Background Recent developments have made screening tests for foetal abnormalities available earlier in pregnancy and women have a range of testing options accessible to them. It is now recommended that all women, regardless of their age, are provided with information on prenatal screening tests. General Practitioners (GPs are often the first health professionals a woman consults in pregnancy. As such, GPs are well positioned to inform women of the increasing range of prenatal screening tests available. The aim of this study was to explore GPs experience of informing women of prenatal genetic screening tests for foetal abnormality. Methods A qualitative study consisting of four focus groups was conducted in metropolitan and rural Victoria, Australia. A discussion guide was used and the audio-taped transcripts were independently coded by two researchers using thematic analysis. Multiple coders and analysts and informant feedback were employed to reduce the potential for researcher bias and increase the validity of the findings. Results Six themes were identified and classified as 'intrinsic' if they occurred within the context of the consultation or 'extrinsic' if they consisted of elements that impacted on the GP beyond the scope of the consultation. The three intrinsic themes were the way GPs explained the limitations of screening, the extent to which GPs provided information selectively and the time pressures at play. The three extrinsic factors were GPs' attitudes and values towards screening, the conflict they experienced in offering screening information and the sense of powerlessness within the screening test process and the health care system generally. Extrinsic themes reveal GPs' attitudes and values to screening and to disability, as well as raising questions about the fundamental premise of testing. Conclusion The increasing availability and utilisation of screening tests, in particular first trimester tests, has expanded GPs

  2. Copy-number variation and false positive prenatal aneuploidy screening results.

    Science.gov (United States)

    Snyder, Matthew W; Simmons, LaVone E; Kitzman, Jacob O; Coe, Bradley P; Henson, Jessica M; Daza, Riza M; Eichler, Evan E; Shendure, Jay; Gammill, Hilary S

    2015-04-23

    Investigations of noninvasive prenatal screening for aneuploidy by analysis of circulating cell-free DNA (cfDNA) have shown high sensitivity and specificity in both high-risk and low-risk cohorts. However, the overall low incidence of aneuploidy limits the positive predictive value of these tests. Currently, the causes of false positive results are poorly understood. We investigated four pregnancies with discordant prenatal test results and found in two cases that maternal duplications on chromosome 18 were the likely cause of the discordant results. Modeling based on population-level copy-number variation supports the possibility that some false positive results of noninvasive prenatal screening may be attributable to large maternal copy-number variants. (Funded by the National Institutes of Health and others.).

  3. Prenatal Methylmercury Exposure and Genetic Predisposition to Cognitive Deficit at Age 8 Years

    DEFF Research Database (Denmark)

    Julvez, Jordi; Smith, George Davey; Golding, Jean

    2013-01-01

    Cognitive consequences at school age associated with prenatal methylmercury (MeHg) exposure may need to take into account nutritional and sociodemographic cofactors as well as relevant genetic polymorphisms....

  4. Ethnic differences in informed decision-making about prenatal screening for Down's syndrome

    NARCIS (Netherlands)

    M.P. Fransen; M.L. Essink-Bot; I. Vogel; J.P. Mackenbach; E.A.P. Steegers; H.I.J. Wildschut

    2010-01-01

    BACKGROUND: The aim of this study was to assess ethnic variations in informed decision-making about prenatal screening for Down's syndrome and to examine the contribution of background and decision-making variables. METHODS: Pregnant women of Dutch, Turkish and Surinamese origin were recruited betwe

  5. Application value of OSCAR syetem in prenatal screen of chromosome disease and severeα-thalassemia

    Institute of Scientific and Technical Information of China (English)

    Yi Ling; Song Jin; Chun-Xia Hu; Rui-XiANan; Fu Huo; Ning Zhang; Tu-Zhao Xie; Qun-Hua Shi

    2016-01-01

    Objective:To study the value of combining serum and ultrasound nuchal translucency thickness (NT) measurement for One-stop Clinic of Risk Assessment (OSCAR) in Hainan Province in prenatal diagnose of chromosomal disorders and thalassemia diagnosis.Methods:The patients of 11-13+ 6 weeks in our hospital for regularly standardized checking were selected for OSCAR prenatal screening, the patients of the Down's and severe thalassemia at high risk were selected for prenatal diagnosis of fetal karyotype and thalassemia gene checking, then pregnancy outcomes was followed up. Rate of OSCAR in fetal chromosomal disease and the diagnostic value in fetal thalassemia was detected.Results:The positive rate of OSCAR Down's screening was 9.8%, the detection rate was 90%. The incidence of chromosomal abnormalities and severe alpha thalassemia were increased as NT thickening and tricuspid or venous ductus regurgitation.Conclusions: OSCAR Down's screening system for early pregnancy is noninvasive, affordable and it is preferred prenatal screening through comprehensive evaluation.

  6. The influence of prenatal screening and termination of pregnancy on perinatal mortality rates

    NARCIS (Netherlands)

    Pal-de Bruin, K.M. van der; Graafmans, W.; Biermans, M.C.J.; Richardus, J.H.; Zijlstra, A.G.; Reefhuis, J.; Mackenbach, J.P.; Verloove-Vanhorick, S.P.

    2002-01-01

    Objectives This study concerns the possible effect of practice of prenatal screening of congenital anomalies followed by termination of pregnancy on the perinatal mortality between European countries. Methods Data of nine region-specific EUROCAT registries from five European countries were used to c

  7. Ethnic differences in informed decision-making about prenatal screening for Down's syndrome

    NARCIS (Netherlands)

    Fransen, M.P.; Essink-Bot, M.L.; Vogel, I.; Mackenbach, J.P.; Steegers, E.A.P.; Wildschut, H.I.J.

    2010-01-01

    BACKGROUND: The aim of this study was to assess ethnic variations in informed decision-making about prenatal screening for Down's syndrome and to examine the contribution of background and decision-making variables. METHODS: Pregnant women of Dutch, Turkish and Surinamese origin were recruited

  8. [Prenatal diagnosis. I: Prenatal diagnosis program at the Medical Genetics Unit of the Universidad de Zulia, Maracaibo, Venezuela].

    Science.gov (United States)

    Prieto-Carrasquero, M; Molero, A; Carrasquero, N; Paz, V; González, S; Pineda-Del Villar, L; Del Villar, A; Rojas-Atencio, A; Quintero, M; Fulcado, W; Mena, R; Morales-Machin, A

    1998-06-01

    The Prenatal Diagnosis Program of the Medical Genetic Unit of University of Zulia has the following objectives: Identification of Genetic Risk Factors (GRF) in those couples who attend to the Prenatal Genetic Clinic, application of different prenatal diagnostic procedures (PDP), and providing adequate genetic counseling. The goal of this paper is to show preliminary results obtained between January 1993 and December 1996. Three hundred and twenty one pregnant women were analyzed by determining the GRF and taking into account the genetic clinical history. The GRF analyzed were: Advanced maternal age (AMA), congenital malformation history (CMH), previous child with chromosomic anomalies (PCCA), defects of neural tube history (DNTH), congenital heart disease history (CHDH), any parent carrier of chromosomic anomaly (PCA), habitual abortion (HA), abnormal fetal echography (AFE), altered maternal serum levels of alpha-feto-protein (AMSAFP) and OTHERS: exposure to teratogenic agents, history of Mendelian diseases, maternal systemic diseases and anxiety in the mother or in her partner. The PDP was designed according to the GRF, which included fetal echography (FE), fetal echocardiography (FEc), amniocentesis (AMN), chordocentesis (CCT) and AMSAFP. Results showed that 58.4% of the expectant mothers asked for counseling during the 2nd trimester, 70% of the total showed only one GRF, and AMA was the most frequent GRF found (40.3%), followed by PCCA, AFE, CHDH, HA, DNTH, PCA, and OTHERS in that order. The specific PDP applied to the identified GRF allowed a health evaluation of the fetus. The GRF identification gave the opportunity of establishing a Prenatal Diagnostic Program producing a response to the couple's needs and showed the utility of an integral and multidisciplinary management directed to any expecting mother in order to identify any high GRF.

  9. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens.

    Science.gov (United States)

    Sugarman, Elaine A; Nagan, Narasimhan; Zhu, Hui; Akmaev, Viatcheslav R; Zhou, Zhaoqing; Rohlfs, Elizabeth M; Flynn, Kerry; Hendrickson, Brant C; Scholl, Thomas; Sirko-Osadsa, Deborah Alexa; Allitto, Bernice A

    2012-01-01

    Spinal muscular atrophy (SMA) is a leading inherited cause of infant death with a reported incidence of ~1 in 10,000 live births and is second to cystic fibrosis as a common, life-shortening autosomal recessive disorder. The American College of Medical Genetics has recommended population carrier screening for SMA, regardless of race or ethnicity, to facilitate informed reproductive options, although other organizations have cited the need for additional large-scale studies before widespread implementation. We report our data from carrier testing (n = 72,453) and prenatal diagnosis (n = 121) for this condition. Our analysis of large-scale population carrier screening data (n = 68,471) demonstrates the technical feasibility of high throughput testing and provides mutation carrier and allele frequencies at a level of accuracy afforded by large data sets. In our United States pan-ethnic population, the calculated a priori carrier frequency of SMA is 1/54 with a detection rate of 91.2%, and the pan-ethnic disease incidence is calculated to be 1/11,000. Carrier frequency and detection rates provided for six major ethnic groups in the United States range from 1/47 and 94.8% in the Caucasian population to 1/72 and 70.5% in the African American population, respectively. This collective experience can be utilized to facilitate accurate pre- and post-test counseling in the settings of carrier screening and prenatal diagnosis for SMA.

  10. Psychological aspects of individualized choice and reproductive autonomy in prenatal screening.

    Science.gov (United States)

    Hewison, Jenny

    2015-01-01

    Probably the main purpose of reproductive technologies is to enable people who choose to do so to avoid the birth of a baby with a disabling condition. However the conditions women want information about and the 'price' they are willing to pay for obtaining that information vary enormously. Individual women have to arrive at their own prenatal testing choices by 'trading off' means and ends in order to resolve the dilemmas facing them. We know very little about how individuals make these trade-offs, so it is difficult to predict how new technologies will affect their choices and preferences. Uptake decisions can be expected to change, especially in the group of women who now are put off by some aspect of the current screening approach, where the avoidance of miscarriage risk may have provided a kind of 'psychological shelter', protecting a lot of people from having to make other decisions. Technologies such as Pre-implantation Genetic Diagnosis may remove a second 'psychological shelter' because they offer the means of avoiding the birth of an affected child without terminating a pregnancy. Even if new technologies will make some decisions easier in terms of their cognitive demands, they will also create new dilemmas and decision making will not necessarily become less stressful in emotional terms. Key challenges concern information and decision-making.

  11. 基于社区水平的珠海市大人群地中海贫血的遗传筛查和产前诊断%A community-based genetic screening of large-scale population and prenatal diagnosis for alpha and beta thalassemia in Zhuhai city of Guangdong province

    Institute of Scientific and Technical Information of China (English)

    周玉球; 徐湘民; 莫秋华; 卢金汉; 李莉艳; 梁雄; 贾世奇; 肖鸽飞; 周万军; 肖奇志

    2008-01-01

    Objective To describe a community-based model for prevention and control of severe α and β thalassemias in Zhuhai city of Guangdong province.Methods Couples for premarital medical examination or regular heahhcare examination in pregnancy were enrolled in this prospective screening program,which was supported by the two-level network composed of 6 local hospitals for testing thalassemias and follow-up for genetic counseling.A conventional heterozygote screening strategy Was used to determine α and β thalasemia traits in women and their partners according to the standard procedures of hematological phenotype analysis.Then confirmative diagnosis of α and β thalassemia was performed On those couples suspected at-risk for seven thalassemia by using the PCR-based molecular diagnostic assays. The couples at risk for severe thalassemia Were counseled and offered prenatal diagnosis and termination of pregnancy in ease of an affected fetus. Results During the period between January 1998 and December 2005, the screened records included 85522 young females and their partners for premarital screening and 10439 pregnant women for prenatal screening,with 71.38% coverage of total population recorded in this city for premarital screening.Six thousands five hundreds and sixty-three individuals in total were found to be the carriers of thalassemias,with 4312 for α thalassemia (4.5%) and 2251 for β thalassemia (2.3%),respectively.One hundred and forty-eisht couples Were diagnosed to be at-risk for thalassemias,including 103 for a thalassemia and 45 for β thalassemia, respectively.Successful prenatal diagnosis was made for 142(98 for a thalasemia and 44 for β thalassemia) out of 148 (95.9%) pregnancies at-risk for severe thalassemias.Twenty-three cases of hydrops fetalis,4 of Hb H diseases and 14 of β thal assemia were identified.All 41 pregnancies with affected fetuses were voluntarily terminated.Thus, this has led to a marked decrease of scvcrc thalassemia syndrome since

  12. Advances in prenatal screening and prenatal diagnosis for birth defect%出生缺陷产前筛查及产前诊断研究进展

    Institute of Scientific and Technical Information of China (English)

    吴清明; 周瑾

    2011-01-01

    出生缺陷已成为世界婴儿死亡、儿童和成人残疾的主要原因之一,是目前全世界关注的一个重大公共卫生问题.出生缺陷由遗传因素、环境致畸因素或两者共同作用所致.我国是出生缺陷高发国家,通过早期诊断、早期干预可以避免至少70%出生缺陷.出生缺陷干预是一个系统工程,产前筛查和产前诊断是胎儿出生缺陷干预的有效手段,是出生缺陷干预二级预防中的重要组成部分.%Birth defects has been one of main causes of infant mortality, children and adult disability, and are becoming main public heath problem worldwide. Birth defects are associated with environmental factors, genetic factors or interactions of the genetic factors and environmental factors. It is high rates of birth defects in China, at least 70% of the birth defects can be avoided of early diagnosis is determined and early interventions are performed. Intervention of birth defects is a system process, prenatal screening and prenatal diagnosis are effective interventions, and they are the key components of the secondary prevention in birth defects control.

  13. Diagnostic performance and costs of contingent screening models for trisomy 21 incorporating non-invasive prenatal testing.

    Science.gov (United States)

    Maxwell, Susannah; O'Leary, Peter; Dickinson, Jan E; Suthers, Graeme K

    2017-08-01

    Contingent screening for trisomy 21 using non-invasive prenatal testing has the potential to reduce invasive diagnostic testing and increase the detection of trisomy 21. To describe the diagnostic and economic performance of prenatal screening models for trisomy 21 that use non-invasive prenatal testing as a contingent screen across a range of combined first trimester screening risk cut-offs from a public health system perspective. Using a hypothetical cohort of 300 000 pregnancies, we modelled the outcomes of 25 contingent non-invasive prenatal testing screening models and compared these to conventional screening, offering women with a high-risk (1 > 300) combined first trimester screening result an invasive test. The 25 models used a range of risk cut-offs. High-risk women were offered invasive testing. Intermediate-risk women were offered non-invasive prenatal testing. We report the cost of each model, detection rate, costs per diagnosis, invasive tests per diagnosis and the number of fetal losses per diagnosis. The cost per prenatal diagnosis of trisomy 21 using the conventional model was $51 876 compared to the contingent models which varied from $49 309-66 686. The number of diagnoses and cost per diagnosis increased as the intermediate-risk threshold was lowered. Results were sensitive to trisomy 21 incidence, uptake of testing and cost of non-invasive prenatal testing. Contingent non-invasive prenatal testing models using more sensitive combined first trimester screening risk cut-offs than conventional screening improved the detection rate of trisomy 21, reduced procedure-related fetal loss and could potentially be provided at a lower cost per diagnosis than conventional screening. © 2017 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  14. Culture and genetic screening in Africa.

    Science.gov (United States)

    Jegede, Ayodele S

    2009-12-01

    Africa is a continent in transition amidst a revival of cultural practices. Over previous years the continent was robbed of the benefits of medical advances by unfounded cultural practices surrounding its cultural heritage. In a fast moving field like genetic screening, discussions of social and policy aspects frequently need to take place at an early stage to avoid the dilemma encountered by Western medicine. This paper, examines the potential challenges to genetic screening in Africa. It discusses how cultural practices may affect genetic screening. It views genomics science as a culture which is trying to diffuse into another one. It argues that understanding the existing culture will help the diffusion process. The paper emphasizes the importance of genetic screening for Africa, by assessing the current level of burden of diseases in the continent and shows its role in reducing disease prevalence. The paper identifies and discusses the cultural challenges that are likely to confront genetic screening on the continent, such as the worldview, rituals and taboos, polygyny, culture of son preference and so on. It also discusses cultural practices that may promote the science such as inheritance practices, spouse selection practices and naming patterns. Factors driving the cultural challenges are identified and discussed, such as socialization process, patriarchy, gender, belief system and so on. Finally, the paper discusses the way forward and highlights the ethical considerations of doing genetic screening on the continent. However, the paper also recognizes that African culture is not monolithic and therefore makes a case for exceptions.

  15. NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy.

    Science.gov (United States)

    Wilson, K L; Czerwinski, J L; Hoskovec, J M; Noblin, S J; Sullivan, C M; Harbison, A; Campion, M W; Devary, K; Devers, P; Singletary, C N

    2013-02-01

    The BUN and FASTER studies, two prospective multicenter trials in the United States, validated the accuracy and detection rates of first and second trimester screening previously reported abroad. These studies, coupled with the 2007 release of the American College of Obstetricians and Gynecologists (ACOG) Practice Bulletin that endorsed first trimester screening as an alternative to traditional second trimester multiple marker screening, led to an explosion of screening options available to pregnant women. ACOG also recommended that invasive diagnostic testing for chromosome aneuploidy be made available to all women regardless of maternal age. More recently, another option known as Non-invasive Prenatal Testing (NIPT) became available to screen for chromosome aneuploidy. While screening and testing options may be limited due to a variety of factors, healthcare providers need to be aware of the options in their area in order to provide their patients with accurate and reliable information. If not presented clearly, patients may feel overwhelmed at the number of choices available. The following guideline includes recommendations for healthcare providers regarding which screening or diagnostic test should be offered based on availability, insurance coverage, and timing of a patient's entry into prenatal care, as well as a triage assessment so that a general process can be adapted to unique situations.

  16. Global burden of genetic disease and the role of genetic screening.

    Science.gov (United States)

    Verma, I C; Puri, R D

    2015-10-01

    It is estimated that 5.3% of newborns will suffer from a genetic disorder, when followed up until the age of 25 years. In developing, as compared to western countries, hemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency have a higher incidence due to severe falciparum malaria in the distant past, and autosomal recessive disorders have a higher frequency due to greater proportion of consanguineous marriages. Chromosomal disorders have a combined frequency of 1 in 153 births, therefore screening for chromosomal disorders is essential, using biochemical markers, ultrasonography, and recently by non-invasive prenatal diagnosis based on cell-free fetal DNA in maternal plasma. Preconceptional counseling should be encouraged. For genetic disorders screening should be carried out, ideally after marriage, but before pregnancy. The disorders to be screened depend upon ethnicity. Metabolic disorders have a high incidence in developing countries due to greater rate of consanguineous marriages. Newborn screening is recommended to reduce the burden of these disorders, as many metabolic disorders can be treated. Hearing and critical congenital heart disease should both be screened in the newborn period.

  17. Disentangling the effects of genetic, prenatal and parenting influences on children's cortisol variability.

    Science.gov (United States)

    Marceau, Kristine; Ram, Nilam; Neiderhiser, Jenae M; Laurent, Heidemarie K; Shaw, Daniel S; Fisher, Phil; Natsuaki, Misaki N; Leve, Leslie D

    2013-11-01

    Developmental plasticity models hypothesize the role of genetic and prenatal environmental influences on the development of the hypothalamic-pituitary-adrenal (HPA) axis and highlight that genes and the prenatal environment may moderate early postnatal environmental influences on HPA functioning. This article examines the interplay of genetic, prenatal and parenting influences across the first 4.5 years of life on a novel index of children's cortisol variability. Repeated measures data were obtained from 134 adoption-linked families, adopted children and both their adoptive parents and birth mothers, who participated in a longitudinal, prospective US domestic adoption study. Genetic and prenatal influences moderated associations between inconsistency in overreactive parenting from child age 9 months to 4.5 years and children's cortisol variability at 4.5 years differently for mothers and fathers. Among children whose birth mothers had high morning cortisol, adoptive fathers' inconsistent overreactive parenting predicted higher cortisol variability, whereas among children with low birth mother morning cortisol adoptive fathers' inconsistent overreactive parenting predicted lower cortisol variability. Among children who experienced high levels of prenatal risk, adoptive mothers' inconsistent overreactive parenting predicted lower cortisol variability and adoptive fathers' inconsistent overreactive parenting predicted higher cortisol variability, whereas among children who experienced low levels of prenatal risk there were no associations between inconsistent overreactive parenting and children's cortisol variability. Findings supported developmental plasticity models and uncovered novel developmental, gene × environment and prenatal × environment influences on children's cortisol functioning.

  18. Impact on spina bifida screening of shifting prenatal Down syndrome maternal serum screening from the second trimester to the first.

    Science.gov (United States)

    Spaggiari, Emmanuel; Dreux, Sophie; Stirnemann, Julien J; Czerkiewicz, Isabelle; Houfflin-Debarge, Véronique; Segonne, Alexandra; Jouannic, Jean-Marie; Ville, Yves; Muller, Francoise

    2017-07-01

    Shifting screening for trisomy 21 to the first trimester has resulted in the loss of maternal serum alpha-fetoprotein screening for spina bifida. The aim of this study was to study the impact on open spina bifida prenatal screening. We reviewed prenatally diagnosed cases of spina bifida over three years: 2009 (only second-trimester screening, MSM2T), 2010 (transient period) and 2011 (majority first-trimester screening, MSM1T). Cases were assigned to three groups based on maternal serum markers (MSM2T, MSM1T and 'not performed'). Gestational age at diagnosis of spina bifida was compared between these three groups and between the years 2009 and 2011. Median gestational ages at diagnosis of the 742 spina bifida cases between the three groups were 22 weeks [18(+6) -23], 22(+1)  weeks [21(+3) -23] and 21(+4)  weeks [14(+1) -23], respectively (P Spina bifida diagnosis at 14-20 weeks declined from 38.8% in 2009 to 13.3% in 2011 (P spina bifida and resulted in a decrease of 25% of cases of spina bifida detected before 20 weeks. © 2017 John Wiley & Sons, Ltd. © 2017 John Wiley & Sons, Ltd.

  19. [Prenatal ultrasound diagnosis of complex heart abnormality in routine screening].

    Science.gov (United States)

    Kronich, W; Salzer-Muhar, U; Strigl, E; Gerstner, G J

    1990-02-01

    Case report on a severe cardial malformation associated with trisomia 21, diagnosed by ultrasound-screening in the 34th week of gestation. Further diagnostic evaluation of the case and therapeutic management are described. The problems of modern malformation diagnostics by routine ultrasound scanning in pregnancy are discussed.

  20. Profiling β Thalassemia Mutations in Consanguinity and Nonconsanguinity for Prenatal Screening and Awareness Programme

    OpenAIRE

    Ravindra Kumar; Vandana Arya; Sarita Agarwal

    2015-01-01

    Mutation spectrum varies significantly in different parts and different ethnic groups of India. Social factors such as preference to marry within the community and among 1st degree relatives (consanguinity) play an important role in impeding the gene pool of the disease within the community and so in society by and large. The present paper discusses the role of consanguinity in profiling of beta thalassemia mutation, and thus the approach for prenatal screening and prevention based awareness ...

  1. Japan Turns Pro-Life: Recent Change in Reproductive Health Policy and Controversies over Prenatal Screening

    Directory of Open Access Journals (Sweden)

    Etsuji Okamoto

    2014-02-01

    Full Text Available Japan, known as a pro-choice country in terms of abortion, is currently facing the increase of “selective abortions” thanks to new prenatal screening. Efforts to restrict proliferation of new technology has not been successful and it is likely that Japan will turn pro-life by strictly enforcing the Maternity Protection Act (MPA, which prohibits abortions due to “fetal cause”.

  2. Sexually transmitted diseases during pregnancy: screening, diagnostic, and treatment practices among prenatal care providers in Georgia.

    Science.gov (United States)

    Weisbord, J S; Koumans, E H; Toomey, K E; Grayson, C; Markowitz, L E

    2001-01-01

    Sexually transmitted diseases (STD) during pregnancy are associated with adverse outcomes. We conducted a prenatal care provider survey to determine STD screening, diagnosis, and treatment practices. Standard questionnaires were mailed to Georgia-licensed obstetrician/ gynecologists, family practitioners, and nurse-midwives (N = 3,082) in 1998. Of the 1,300 care providers who returned the survey, 565 (44%) provided prenatal care, 390 (57%) were male, and 396 (70%) were obstetrician/ gynecologists. Overall, 553 prenatal care providers (98%) reported screening all pregnant patients for syphilis, 551 (98%) for hepatitis B, 501 (89%) for trichomonas, 474 (84%) for human immunodeficiency virus (HIV), 401 (71%) for gonorrhea, 403 (71%) for chlamydia, 475 (84%) for group B streptococci, and 130 (23%) for bacterial vaginosis (BV) (high risk). Less than 10% used amplification tests for chlamydia or gonorrhea. Most providers used appropriate regimens to treat STD in pregnant women. A written office policy on testing for BV or HIV was associated with increased screening. Provider education is needed about diagnosis and treatment of STD during pregnancy.

  3. ACMG statement on noninvasive prenatal screening for fetal aneuploidy.

    Science.gov (United States)

    Gregg, Anthony R; Gross, S J; Best, R G; Monaghan, K G; Bajaj, K; Skotko, B G; Thompson, B H; Watson, M S

    2013-05-01

    Noninvasive assessment of the fetal genome is now possible using next-generation sequencing technologies. The isolation of fetal DNA fragments from maternal circulation in sufficient quantity and sizes, together with proprietary bioinformatics tools, now allows patients the option of noninvasive fetal aneuploidy screening. However, obstetric care providers must become familiar with the advantages and disadvantages of the utilization of this approach as analysis of cell-free fetal DNA moves into clinical practice. Once informed, clinicians can provide efficient pretest and posttest counseling with the goal of avoiding patient harm. It is in the public's best interest that test results contain key elements and that laboratories adhere to established quality control and proficiency testing standards. The analysis of cell-free fetal DNA in maternal circulation for fetal aneuploidy screening is likely the first of major steps toward the eventual application of whole fetal genome/whole fetal exome sequencing.

  4. Undergoing prenatal screening for Down's syndrome: presentation of choice and information in Europe and Asia.

    Science.gov (United States)

    Hall, Sue; Chitty, Lyn; Dormandy, Elizabeth; Hollywood, Amelia; Wildschut, Hajo I J; Fortuny, Albert; Masturzo, Bianca; Santavý, Jiøí; Kabra, Madhulika; Ma, Runmei; Marteau, Theresa M

    2007-05-01

    To date, studies assessing whether the information given to people about screening tests facilitates informed choices have focussed mainly on the UK, US and Australia. The extent to which written information given in other countries facilitates informed choices is not known. The aim of this study is to describe the presentation of choice and information about Down's syndrome in written information about prenatal screening given to pregnant women in five European and two Asian countries. Leaflets were obtained from clinicians in UK, Netherlands, Spain, Italy, Czech Republic, China and India. Two analyses were conducted. First, all relevant text relating to the choice about undergoing screening was extracted and described. Second, each separate piece of information or statement about the condition being screened for was extracted and then coded as either positive, negative or neutral. Only Down's syndrome was included in the analysis since there was relatively little information about other conditions. There was a strong emphasis on choice and the need for discussion about prenatal screening tests in the leaflets from the UK and Netherlands. The leaflet from the UK gave most information about Down's syndrome and the smallest proportion of negative information. By contrast, the Chinese leaflet did not mention choice and gave the most negative information about Down's syndrome. Leaflets from the other countries were more variable. This variation may reflect cultural differences in attitudes to informed choice or a failure to facilitate informed choice in practice. More detailed studies are needed to explore this further.

  5. Pragmatic approaches to genetic screening.

    NARCIS (Netherlands)

    Mallia, P.; Have, H.A.M.J. ten

    2005-01-01

    Pragmatic approaches to genetic testing are discussed and appraised. Whilst there are various schools of pragmatism, the Deweyan approach seems to be the most appreciated in bioethics as it allows a historical approach indebted to Hegel. This in turn allows the pragmatist to specify and balance prin

  6. Prenatal ultrasound screening of congenital heart disease in an unselected national population: a 21-year experience.

    Science.gov (United States)

    Marek, Jan; Tomek, Viktor; Skovránek, Jan; Povysilová, Viera; Samánek, Milan

    2011-01-01

    To determine the prevalence and spectrum of congenital heart disease (CHD) and the impact of a national prenatal ultrasound screening programme on outcome in a well-characterised population. A comprehensive registry was created of all paediatric and fetal patients with CHD over a 21-year period (1986-2006) in the Czech Republic. The centralised healthcare system enabled confirmation of prenatal and postnatal findings clinically and by post mortem. In the entire cohort of 9475 fetuses referred for detailed cardiac evaluation, 1604 (16.9%) had CHD, of which 501 (31.2%) had additional extracardiac anomalies. In the pregnancies which continued, 59 (8.6%) of 685 fetuses died in utero, and 626 (91.4%) babies were born alive. Prenatal detection rate was highest in double outlet right ventricle (77.3%) and hypoplastic left heart (50.6%). Detection rate increased significantly (p<0.001) for 12/17 lesions comparing 1986-1999 and 2000-2006. In recent years, detection of hypoplastic left heart reached 95.8% while transposition of the great arteries was diagnosed antenatally in only 25.6%. The nationwide prenatal ultrasound screening programme enabled detection of major cardiac abnormalities in 1/3 of patients born with any CHD and 80% of those with critical forms. Nevertheless, owing to the severity of lesions and associated extracardiac anomalies, the overall mortality of antenatally diagnosed CHD remains high. These findings are important for the understanding natural history of CHD for the establishing of screening programmes in Europe.

  7. 联合采用连锁分析和突变检测进行苯丙酮尿症的产前基因诊断%Prenatal genetic diagnosis for phenylketonuria families by combination of linkage analysis and mutation screening

    Institute of Scientific and Technical Information of China (English)

    胡浩; 王华; 唐华; 胡蓉; 周莹; 谢琼; 马力

    2011-01-01

    目的 为经典型苯丙酮尿症(phenylketonuria,PKU)家系提供产前基因诊断.方法 联合采用短串联重复片段(short tandem repeats,STR)多态连锁分析和聚合酶链反应技术扩增苯丙氨酸羟化酶基因突变热区外显子直接测序,对3个经典型PKU先证者及家系成员进行综合分析.结果 家系1的STR连锁分析不能提供遗传信息,家系2、家系3可提供100%信息.突变检测共发现3个先证者均为苯丙氨酸羟化酶基因复合杂合突变,共检测到5种突变:Y166X、R243Q、R413P、EX6-96A>G和IVS11-1G>C,其中IVS11-1G>C为国际首次报道的新突变.综合连锁分析和突变检测结果,确定家系1和家系2胎儿为PKU患者,家系3胎儿正常.结论 联合连锁分析和苯丙氨酸羟化酶基因突变检测,可为PKU家系提供可靠的产前诊断服务.%Objective To explore the prenatal genetic diagnosis for classic phenylketonuria (PKU) families.Methods Probands and their family members from three classic PKU families were analyzed by combining linkage analysis through short tandem repeats (STR) polymorphism and PCR-sequencing for the exons within mutation hot spot of phenylalanine hydroxylase gene.Results Linkage analysis found uninformative for Family 1,while 100 % confirmative information was obtained from Family 2 and 3.Sequencing showed compound heterozygous mutations of phenylalanine hydroxylase gene for all of the three probands.Five mutations were detected,namely Y166X,R243Q,R413P,EX6-96A > G and IVS11-1G> C,and IVS11-1G > C was a novel identified muntation.Information from linkage analysis and mutation screening showed clearly that the fetus of Family 1 and 2 were affected,while normal for Family 3.Conclusions For those PKU families,reliable service of prenatal genetic diagnosis could be provided by combining linkage analysis with mutation screening of phenylalanine hydroxylase gene.

  8. Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis

    DEFF Research Database (Denmark)

    László, Aranka; Endreffy, Emoke; Tümer, Zeynep

    2010-01-01

    from MD and prenatal diagnosis was done in this MD loaded family. METHOD: The 12th exon of ATP7A gene has been analyzed by dideoxy-finger printing (DDF), polymerase chain reaction (PCR), direct sequencing of exon 12. The specific mutation was screened from chorionic villi of the maternal aunt at the 14...

  9. Cost-effectiveness of prenatal screening strategies for congenital heart disease

    Science.gov (United States)

    Pinto, N. M.; Nelson, R.; Puchalski, M.; Metz, T. D.; Smith, K. J.

    2017-01-01

    Objective The economic implications of strategies to improve prenatal screening for congenital heart disease (CHD) in low-risk mothers have not been explored. The aim was to perform a cost-effectiveness analysis of different screening methods. Methods We constructed a decision analytic model of CHD prenatal screening strategies (four-chamber screen (4C), 4C + outflow, nuchal translucency (NT) or fetal echocardiography) populated with probabilities from the literature. The model included whether initial screens were interpreted by a maternal–fetal medicine (MFM) specialist and different referral strategies if they were read by a non-MFM specialist. The primary outcome was the incremental cost per defect detected. Costs were obtained from Medicare National Fee estimates. A probabilistic sensitivity analysis was undertaken on model variables commensurate with their degree of uncertainty. Results In base–case analysis, 4C + outflow referred to an MFM specialist was the least costly strategy per defect detected. The 4C screen and the NT screen were dominated by other strategies (i.e. were more costly and less effective). Fetal echocardiography was the most effective, but most costly. On simulation of 10 000 low-risk pregnancies, 4C+ outflow screen referred to an MFM specialist remained the least costly per defect detected. For an additional $580 per defect detected, referral to cardiology after a 4C + outflow was the most cost-effective for the majority of iterations, increasing CHD detection by 13 percentage points. Conclusions The addition of examination of the outflow tracts to second-trimester ultrasound increases detection of CHD in the most cost-effective manner. Strategies to improve outflow-tract imaging and to refer with the most efficiency may be the best way to improve detection at a population level. PMID:24357432

  10. Using an adoption design to separate genetic, prenatal, and temperament influences on toddler executive function.

    Science.gov (United States)

    Leve, Leslie D; DeGarmo, David S; Bridgett, David J; Neiderhiser, Jenae M; Shaw, Daniel S; Harold, Gordon T; Natsuaki, Misaki N; Reiss, David

    2013-06-01

    Poor executive functioning has been implicated in children's concurrent and future behavioral difficulties, making work aimed at understanding processes related to the development of early executive function (EF) critical for models of developmental psychopathology. Deficits in EF have been associated with adverse prenatal experiences, genetic influences, and temperament characteristics. However, our ability to disentangle the predictive and independent effects of these influences has been limited by a dearth of genetically informed research designs that also consider prenatal influences. The present study examined EF and language development in a sample of 361 toddlers who were adopted at birth and reared in nonrelative adoptive families. Predictors included genetic influences (as inherited from birth mothers), prenatal risk, and growth in child negative emotionality. Structural equation modeling indicated that the effect of prenatal risk on toddler effortful attention at age 27 months became nonsignificant once genetic influences were considered in the model. In addition, genetic influences had unique effects on toddler effortful attention. Latent growth modeling indicated that increases in toddler negative emotionality from 9 to 27 months were associated with poorer delay of gratification and poorer language development. Similar results were obtained in models incorporating birth father data. Mechanisms of intergenerational transmission of EF deficits are discussed.

  11. Women's attitude towards prenatal screening for red blood cell antibodies, other than RhD

    Directory of Open Access Journals (Sweden)

    van der Schoot CE

    2008-11-01

    Full Text Available Abstract Background Since July 1998 all Dutch women (± 200,000/y are screened for red cell antibodies, other than anti-RhesusD (RhD in the first trimester of pregnancy, to facilitate timely treatment of pregnancies at risk for hemolytic disease of the fetus and newborn (HDFN. Evidence for benefits, consequences and costs of screening for non-RhD antibodies is still under discussion. The screening program was evaluated in a nation-wide study. As a part of this evaluation study we investigated, according to the sixth criterium of Wilson and Jüngner, the acceptance by pregnant women of the screening program for non-RhD antibodies. Methods Controlled longitudinal survey, including a prenatal and a postnatal measurement by structured questionnaires. Main outcome measures: information satisfaction, anxiety during the screening process (a.o. STAI state inventory and specific questionnaire modules, overall attitude on the screening program. Univariate analysis was followed by standard multivariate analysis to identify significant predictors of the outcome measures. Participants: 233 pregnant women, distributed over five groups, according to the screening result. Results Satisfaction about the provided information was moderate in all groups. All screen- positive groups desired more supportive information. Anxiety increased in screen- positives during the screening process, but decreased to basic levels postnatally. All groups showed a strongly positive balance between perceived utility and burden of the screening program, independent on test results or background characteristics. Conclusion Women highly accept the non-RhD antibody screening program. However, satisfaction about provided information is moderate. Oral and written information should be provided by obstetric care workers themselves, especially to screen-positive women.

  12. The Importance of the Prenatal Environment in Behavioral Genetics: Introduction to Special Issue.

    Science.gov (United States)

    Knopik, Valerie S; Neiderhiser, Jenae M; de Geus, Eco; Boomsma, Dorret

    2016-05-01

    We introduce and discuss a special issue on prenatal factors in genetics research, that includes 14 papers ranging from studies on chorionicity, smoking during pregnancy, and more general prenatal risks to papers about theory, methods and measurement. There are two review papers, one focused on chorioncity and the second on pre- and perinatal ischemia-hypoxia, that help to frame the state of research in these areas with a focus on the relevance across multiple fields of study. Taken together, these papers clearly demonstrate the importance of considering prenatal environment influences on functioning in offspring across the lifespan while also underscoring the importance of using genetically informed designs as a means to clarify causality.

  13. In vitro fertilization with preimplantation genetic screening

    NARCIS (Netherlands)

    Mastenbroek, Sebastiaan; Twisk, Moniek; van Echten-Arends, Jannie; Sikkema-Raddatz, Birgit; Korevaar, Johanna C.; Verhoeve, Harold R.; Vogel, Niels E. A.; Arts, Eus G. J. M.; de Vries, Jan W. A.; Bossuyt, Patrick M.; Buys, Charles H. C. M.; Heineman, Maas Jan; Repping, Sjoerd; van der Veen, Fulco

    2007-01-01

    BACKGROUND: Pregnancy rates in women of advanced maternal age undergoing in vitro fertilization (IVF) are disappointingly low. It has been suggested that the use of preimplantation genetic screening of cleavage-stage embryos for aneuploidies may improve the effectiveness of IVF in these women.

  14. Prenatal diagnosis of 47,XXX.

    Science.gov (United States)

    Khoury-Collado, Fady; Wehbeh, Ammar N; Fisher, Allan J; Bombard, Allan T; Weiner, Zeev

    2005-05-01

    We report 2 cases of 47,XXX that were diagnosed prenatally and were screened positive for trisomy 21 by biochemical and ultrasound markers. These cases underline the importance of discussing the sex chromosome abnormalities during the genetic counseling after an abnormal triple screen test or ultrasound examination.

  15. Prenatal genetic testing, counseling and follow-up of 33 Egyptian ...

    African Journals Online (AJOL)

    Khaled R. Gaber

    2015-02-21

    Feb 21, 2015 ... b Prenatal Diagnosis Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt. Received ... referred from medical centers throughout Egypt. .... tion of multiple pregnancies, placental location, fetal ... 36.8% (14/38) affected fetuses with MPS and the distribution.

  16. Attitudes toward prenatal genetic testing for Treacher Collins syndrome among affected individuals and families.

    Science.gov (United States)

    Wu, Rebecca L; Lawson, Cathleen S; Jabs, Ethylin Wang; Sanderson, Saskia C

    2012-07-01

    Treacher Collins syndrome (TCS) is a craniofacial syndrome that is both phenotypically variable and heterogeneous, caused by mutations in the TCOF1, POLR1C, and POLR1D genes. We examined attitudes towards TCS prenatal genetic testing among affected families using a telephone questionnaire. Participants were 31 affected adults and relatives recruited primarily through families cared for in the mid-Atlantic region. Nineteen participants (65%) reported that they would take a TCS prenatal genetic test which could not predict degree of disease severity. Interest in TCS genetic testing was associated with higher income, higher concern about having a child with TCS, lower religiosity, lower concern about genetic testing procedures, and having a sporadic rather than familial mutation. Over half reported that their decision to have TCS genetic testing would be influenced a great deal by their desire to relieve anxiety and attitudes toward abortion. Ten participants (32%) reported that they would be likely to end the pregnancy upon receiving a positive test result; this was lower amongst TCS affected individuals and higher amongst participants with children with TCS. Genetics healthcare providers need to be aware of affected individuals' and families' attitudes and interest in prenatal genetic testing for TCS, and the possible implications for other craniofacial disorders, so that patients' information needs can be met.

  17. Reconsidering prenatal screening: an empirical-ethical approach to understand moral dilemmas as a question of personal preferences.

    NARCIS (Netherlands)

    Garcia, E.; Timmermans, D.R.; Leeuwen, E. van

    2009-01-01

    In contrast to most Western countries, routine offer of prenatal screening is considered problematic in the Netherlands. The main argument against offering it to every pregnant woman is that women would be brought into a moral dilemma when deciding whether to use screening or not. This paper

  18. Reconsidering prenatal screening: an empirical-ethical approach to understand moral dilemmas as a question of personal preferences

    NARCIS (Netherlands)

    Garcia Gonzalez, M.E.; Timmermans, D.R.M.; Leeuwen, van E.

    2009-01-01

    In contrast to most Western countries, routine offer of prenatal screening is considered problematic in the Netherlands. The main argument against offering it to every pregnant woman is that women would be brought into a moral dilemma when deciding whether to use screening or not. This paper

  19. Reconsidering prenatal screening: an empirical-ethical approach to understand moral dilemmas as a question of personal preferences

    NARCIS (Netherlands)

    Garcia Gonzalez, M.E.; Timmermans, D.R.M.; Leeuwen, van E.

    2009-01-01

    In contrast to most Western countries, routine offer of prenatal screening is considered problematic in the Netherlands. The main argument against offering it to every pregnant woman is that women would be brought into a moral dilemma when deciding whether to use screening or not. This paper explore

  20. Reconsidering prenatal screening: an empirical-ethical approach to understand moral dilemmas as a question of personal preferences.

    NARCIS (Netherlands)

    Garcia, E.; Timmermans, D.R.; Leeuwen, E. van

    2009-01-01

    In contrast to most Western countries, routine offer of prenatal screening is considered problematic in the Netherlands. The main argument against offering it to every pregnant woman is that women would be brought into a moral dilemma when deciding whether to use screening or not. This paper explore

  1. First trimester prenatal screening among women pregnant after IVF/ICSI

    DEFF Research Database (Denmark)

    Anne Cathrine, Gjerris; Tabor, Ann; Loft, Anne;

    2012-01-01

    BACKGROUND Prenatal screening and diagnosis of chromosomal abnormalities especially Down's syndrome in IVF pregnancies are complicated by higher maternal age, a high multiple pregnancy rate, a high risk of a vanishing twin and an increased risk of chromosomal abnormalities, particularly in pregna......BACKGROUND Prenatal screening and diagnosis of chromosomal abnormalities especially Down's syndrome in IVF pregnancies are complicated by higher maternal age, a high multiple pregnancy rate, a high risk of a vanishing twin and an increased risk of chromosomal abnormalities, particularly...... in pregnancies after ICSI. The aim of the present systematic review was to evaluate the findings of first trimester screening for chromosomal abnormalities in IVF/ICSI singleton and twin pregnancies. METHODS A systematic MESH-term search in MEDLINE using PubMed and the Cochrane Library was performed until May...... 2011, with no earlier date limit. RESULTS The electronic search retrieved 562 citations, 96 of which were evaluated in detail and 57 were then excluded for not meeting the selection criteria. A total of 61 articles were finally selected for review. Our analysis of the data shows that, for IVF...

  2. [PHQ-2 as First Screening Instrument of Prenatal Depression in Primary Health Care, Spain].

    Science.gov (United States)

    Rodríguez-Muñoz, María de la Fe; Castelao Legazpi, Pilar Carolina; Olivares Crespo, María Eugenia; Soto Balbuena, Cristina; Izquierdo Méndez, Nuria; Ferrer Barrientos, Francisco Javier; Huynh-Nhu, Le

    2017-01-30

    Prenatal depression is a major public health problem that is barely treated. Based on existing literature, depression during this period is associated with negative consequences for the mother and the baby. Therefore it is important to make an adequate screening in this population. The aim of this study was to determine the discriminant validity and cut-off of the Patient Health Questionnaire (PHQ-2) as a screening tool to identify the depression in pregnant women living in Spain. The sample included 1,019 female participants, aged between 19 and 45 years, who participated voluntarily, and received prenatal care during the first trimester. Participants completed a sociodemographic questionnaire, PHQ-2 andPHQ-9. The research has been developed within the Obstetrics and Gynecology department at two public hospitals in two different Spanish Regions. The research was conducted between 2014 and 2016 performing a ROC curve analysis to determine the discriminative capacity and cut-off for PHQ-2. 11,1 % out of 1019 participants were diagnosed with depression. The area under the curve of PHQ-2 was 0,84 p smaller than 0,001. With the cutoff 2 the sensitivity and specificity of 85,4 % and 79,5% respectively. A score Equal or greater than 2 is an appropriate cut-off in PHQ-2 to detect depression during pregnancy. The use of PHQ-2 could precede PHQ-9 as a brief screening tool for antenatal depression in obstetric settings.

  3. Male Partners’ Involvement Towards Prenatal Screening And Diagnostic Testing For Down Syndrome

    Directory of Open Access Journals (Sweden)

    Niken Kusumaningrum

    2015-03-01

    Full Text Available Introduction: Now, male partners’ involvement in prenatal screening and diagnostic testing for Down syndrome is becoming increasingly recognized as well to ensure that parents are well informed of the risks and benefits of screening. The aim of study was to understand the degree of male partners’ involvement during pregnancy in Singapore population. Methods: A cross-sectional survey of male partners’ attending prenatal counseling was performed. The instrument used to measure the level of involvement is a self-assessment questionnaire that identifies the role of male partners with a Likert scale. Descriptive statistics was used to analyze data gained. Result: A total of 107 participants completed the questionnaire. Sixty-seven percent of male partners were found to have a highlevel of involvement while 32.7% was found to have a medium level of involvement. Most of them stated that women can pursue prenatal testing without their permission. Male partners found it more important for them to accompany their spouse to amniocentesis or CVS than to the Down syndrome screening test. When participants were asked about how much information about Down syndrome they sought prior to the appointment, how much discussion they had with their spouse about Down syndrome testing, and about whether they or their spouse should be the first person to receive test results, most stated that they were undecided. Conclusion: These results revealed that male partners were very well involved in the Down syndrome testing during pregnancy and future studies should assess possible underlying factors that influence male partners’ involvement.

  4. Klinefelter Syndrome Diagnosed by Prenatal Screening Tests in High-Risk Groups

    OpenAIRE

    Jo, Dae Gi; Seo, Ju Tae; Lee, Joong Shik; Park, So Yeon; Kim, Jin Woo

    2013-01-01

    Purpose Klinefelter syndrome is a chromosomal disorder present in 1 out of 400 to 1,000 male newborns in Western populations. Two-thirds of affected newborns show a karyotype of 47,XXY. Few studies have examined the incidence of Klinefelter syndrome in Korea. The aim of this study was to investigate the incidence of Klinefelter syndrome by use of prenatal screening tests. Materials and Methods From January 2001 to December 2010, 18,049 pregnant women who had undergone a chromosomal study for ...

  5. Sex differentiation disorders (SDD) prenatal sonographic diagnosis, genetic and hormonal work-up.

    Science.gov (United States)

    Katorza, Eldad; Pinhas-Hamiel, Orit; Mazkereth, Ram; Gilboa, Yinon; Achiron, Reuven

    2009-09-01

    Gender is determined by the genetic, gonadal and hormonal/ phenotypic sex. Genetic sex is determined at conception. The establishment of the gonadal sex (ovary/testis) and the phenotypic sex (external and internal genitalia) is a complicated multistep process which is determined during fetal life mainly during the first trimester. Recently more genes have been found to be involved in this process. Prenatal diagnosis of fetal gender can be made using ultrasound technology, genetic and hormonal examinations. Nowadays using a vaginal and abdominal transducer for US examination recognition of external and internal genitalia of both genders is possible. The determination of gender during fetal life is important not only as a matter of curiosity; in some cases of ambiguity (for example congenital adrenal hyperplasia) prenatal treatment can change the natural history of the disease. Prenatal diagnosis can also subtype the ambiguity, and its severity can be established. In this review we describe our experience in prenatal diagnosis and establishment of the fetal gender, the subtypes of ambiguity and our suggestion for the process of diagnostic work-up.

  6. The theological and legal approach of prenatal and preimplantation genetic control

    Directory of Open Access Journals (Sweden)

    George Katsimigas

    2012-04-01

    Full Text Available Aim: The investigation of the theological and legal questions derived from the application of prenatal and preimplantation genetic control on human embryos. Moreover, the review of the European and Greek legislation with regard to the prenatal and preimplantation control. Material and Method: A literature review based on both review and research literature, conducted during the period of 1984-2009, derived from MEDLINE, SCOPUS and ΙΑΤΡΟΤΕΚ databases using as key words Prenatal diagnosis , Bioethics, Orthodox ethics, preimplantation genetic diagnosis, Legislation. Results: The orthodox theology adopts a negative view for the abortion of fetus, which it is considered murder in any stage of growth. The legal approach brought two basic questions a the securing of consent from the examined individual and b the constitutional protection of fetus' life. Conclusions: The orthodox theology, through their teaching places the moral criteria for facing the moral questions derived from the application of prenatal and preimplantation genetic control on human embryos. Also, the Greek citizens need to be informed for all the diagnostic examinations on embryos that should be provided by all public health organizations.

  7. Prenatal genetic testing, counseling and follow-up of 33 Egyptian pregnant females with history of mucopolysaccharidoses

    Directory of Open Access Journals (Sweden)

    Khaled R. Gaber

    2015-04-01

    Conclusion: Early prenatal screening and diagnosis, through a systematic multidisciplinary approach, to all cases of mucopolysaccharidoses are recommended, to improve the quality of life and to avoid the presence of other associated fetal developmental malformations.

  8. Noninvasive Prenatal Genetic Testing: Current and Emerging Ethical, Legal, and Social Issues.

    Science.gov (United States)

    Minear, Mollie A; Alessi, Stephanie; Allyse, Megan; Michie, Marsha; Chandrasekharan, Subhashini

    2015-01-01

    Noninvasive prenatal genetic testing (NIPT) for chromosomal aneuploidy involving the analysis of cell-free fetal DNA became commercially available in 2011. The low false-positive rate of NIPT, which reduces unnecessary prenatal invasive diagnostic procedures, has led to broad clinician and patient adoption. We discuss the ethical, legal, and social issues raised by rapid and global dissemination of NIPT. The number of women using NIPT is anticipated to expand, and the number of conditions being tested for will continue to increase as well, raising concerns about the routinization of testing and negative impacts on informed decision making. Ensuring that accurate and balanced information is available to all pregnant women and that access to NIPT is equitable will require policy guidance from regulators, professional societies, and payers. Empirical evidence about stakeholders' perspectives and experiences will continue to be essential in guiding policy development so that advances in NIPT can be used effectively and appropriately to improve prenatal care.

  9. Awareness among parents of β-thalassemia major patients, regarding prenatal diagnosis and premarital screening.

    Science.gov (United States)

    Ishaq, Fouzia; Abid, Hasnain; Kokab, Farkhanda; Akhtar, Adil; Mahmood, Shahid

    2012-04-01

    To assess the knowledge among parents of thalassemia major patients about prenatal diagnosis, premarital screening for carrier detection and impact of consanguineous marriage on disease transmission. Descriptive study. The Thalassemia Centre, Sir Ganga Ram Hospital, Lahore, from July to September 2009. One hundred and fifteen parents of β-thalassemia major patients were enrolled in this study. A questionnaire was developed and parents were interviewed to assess their knowledge about preventive measures against thalassemia major. Parents of patients with all other types of blood disorder were excluded from the study. There were 74 male (64.3%) and 41 female (35.7) patients with mean age of 9.5 ± 5.1 years. Eighty-eight patients (76.5%) were accompanied by mothers and the rest by their fathers. Seventy-four parents (32.1%) were illiterate; among the literates only 7 were highly educated (3%). Ninety-four couples (81.7%) had consanguineous marriage. Fiftytwo parents (44.6%) knew that thalassemia is an inherited disorder. Thirty-eight (33%) had heard about the test for detecting thalassemia carrier. Premarital screening and prenatal diagnosis was known to 97 (84.3%) and 88 (76.5%) parents respectively. Ninety-nine parents (86.1%) knew about the termination of pregnancy on positive prenatal test but only 69 considered it acceptable religiously (60%). Major source of information to the parents were doctors. Parental knowledge about thalassemia and its preventive measures was inadequate; this requires intervention in the form of public health education programs concentrating on high risk/targeted population.

  10. Genetic screens in Caenorhabditis elegans models for neurodegenerative diseases

    NARCIS (Netherlands)

    Alvarenga Fernandes Sin, Olga; Michels, Helen; Nollen, Ellen A. A.

    2014-01-01

    Caenorhabditis elegans comprises unique features that make it an attractive model organism in diverse fields of biology. Genetic screens are powerful to identify genes and C. elegans can be customized to forward or reverse genetic screens and to establish gene function. These genetic screens can be

  11. Genetic screens in Caenorhabditis elegans models for neurodegenerative diseases

    NARCIS (Netherlands)

    Alvarenga Fernandes Sin, Olga; Michels, Helen; Nollen, Ellen A. A.

    2014-01-01

    Caenorhabditis elegans comprises unique features that make it an attractive model organism in diverse fields of biology. Genetic screens are powerful to identify genes and C. elegans can be customized to forward or reverse genetic screens and to establish gene function. These genetic screens can be

  12. When the topic is you: genetic counselor responses to prenatal patients' requests for self-disclosure.

    Science.gov (United States)

    Balcom, Jessica R; Veach, Patricia McCarthy; Bemmels, Heather; Redlinger-Grosse, Krista; LeRoy, Bonnie S

    2013-06-01

    A limited amount of research indicates patient requests play a major role in genetic counselors' self-disclosure decisions and that disclosure and non-disclosure responses to patient requests may differentially affect genetic counseling processes. Studies further suggest patient requests may be more common in prenatal settings, particularly when counselors are pregnant. Empirical evidence is limited however, concerning the nature of patient requests. This study explored genetic counselors' experiences of prenatal patients' requests for self-disclosure. Four major research questions were: (1) What types of questions do prenatal patients ask that invite self-disclosure?; (2) Do pregnant genetic counselors have unique experiences with prenatal patient disclosure requests?; (3) How do genetic counselors typically respond to disclosure requests?; and (4) What strategies are effective and ineffective in responding to disclosure requests? One hundred seventy-six genetic counselors completed an online survey and 40 also participated in telephone interviews. Inductive analysis of 21 interviews revealed patient questions vary, although questions about counselor demographics are most common, and patients are more likely to ask pregnant counselors questions about their personal pregnancy decisions. Participants reported greater discomfort with self-disclosure requests during pregnancy, yet also disclosing more frequently during pregnancy. Counselor responses included personal self-disclosure, professional self-disclosure, redirection, and declining to disclose. Factors perceived as influencing disclosure included: topic, patient motivations, timing of request, quality of counseling relationship, patient characteristics, and ethical/legal responsibilities. Disclosure practices changed over time for most counselors. Additional findings, practice implications, and research recommendations are discussed.

  13. Decrease of perinatal mortality associated with congenital anomalies after prenatal screening was introduced in the Netherlands

    DEFF Research Database (Denmark)

    Faber, H. H.; Bouman, K.; Walle, H. E. K.

    2015-01-01

    decreased in the northern Netherlands since 2005. The introduction of prenatal screening in 2007 markedly contributed to this trend: pregnancies involving CA were terminated more often, leading to a decrease in the perinatal mortality rate. By 2011, the perinatal mortality rate associated with CA...... and stillbirths from 20 weeks' gestation onwards, excluding terminations of pregnancy for foetal anomalies (TOPFA). RESULTS: A total of 84.832 cases of CA were included from 13 European registries covering a total of 3.1million births. In Europe the perinatalmortality associated with CA decreased from an average...... in the Netherlands until 2007. We have analysed data for a 14-year period from the EUROCAT registries to investigate the effect of the introduction of screening for CA on the perinatal mortality rate in the Netherlands and compared the results with those from other European registries. METHODS: We used data from...

  14. Profiling β Thalassemia Mutations in Consanguinity and Nonconsanguinity for Prenatal Screening and Awareness Programme

    Directory of Open Access Journals (Sweden)

    Ravindra Kumar

    2015-01-01

    Full Text Available Mutation spectrum varies significantly in different parts and different ethnic groups of India. Social factors such as preference to marry within the community and among 1st degree relatives (consanguinity play an important role in impeding the gene pool of the disease within the community and so in society by and large. The present paper discusses the role of consanguinity in profiling of beta thalassemia mutation, and thus the approach for prenatal screening and prevention based awareness programme. Clinically diagnosed 516 cases of beta thalassemia were screened at molecular level. A detailed clinical Proforma was recorded with the information of origin of the family, ethnicity, and consanguinity. The present study reports that subjects originating from Uttar Pradesh, Uttarakhand, Bihar, and Jharkhand have c.92+5G>C and c.124_127delTTCT mutation as the commonest mutation compared to the subjects hailing from Madhya Pradesh and Chhattisgarh and Nepal where sickle mutation was found more common. In 40 consanguineous unions more common and specific beta mutations with higher rate of homozygosity have been reported. This consanguinity-based data helps not only in deciding target oriented prenatal diagnostic strategies but also in objective based awareness programmes in prevention of thalassemia major birth.

  15. Sources of Error in Mammalian Genetic Screens

    Directory of Open Access Journals (Sweden)

    Laura Magill Sack

    2016-09-01

    Full Text Available Genetic screens are invaluable tools for dissection of biological phenomena. Optimization of such screens to enhance discovery of candidate genes and minimize false positives is thus a critical aim. Here, we report several sources of error common to pooled genetic screening techniques used in mammalian cell culture systems, and demonstrate methods to eliminate these errors. We find that reverse transcriptase-mediated recombination during retroviral replication can lead to uncoupling of molecular tags, such as DNA barcodes (BCs, from their associated library elements, leading to chimeric proviral genomes in which BCs are paired to incorrect ORFs, shRNAs, etc. This effect depends on the length of homologous sequence between unique elements, and can be minimized with careful vector design. Furthermore, we report that residual plasmid DNA from viral packaging procedures can contaminate transduced cells. These plasmids serve as additional copies of the PCR template during library amplification, resulting in substantial inaccuracies in measurement of initial reference populations for screen normalization. The overabundance of template in some samples causes an imbalance between PCR cycles of contaminated and uncontaminated samples, which results in a systematic artifactual depletion of GC-rich library elements. Elimination of contaminating plasmid DNA using the bacterial endonuclease Benzonase can restore faithful measurements of template abundance and minimize GC bias.

  16. Cost-effectiveness of rapid syphilis screening in prenatal HIV testing programs in Haiti.

    Directory of Open Access Journals (Sweden)

    Bruce R Schackman

    2007-05-01

    Full Text Available BACKGROUND: New rapid syphilis tests permit simple and immediate diagnosis and treatment at a single clinic visit. We compared the cost-effectiveness, projected health outcomes, and annual cost of screening pregnant women using a rapid syphilis test as part of scaled-up prenatal testing to prevent mother-to-child HIV transmission in Haiti. METHODS AND FINDINGS: A decision analytic model simulated health outcomes and costs separately for pregnant women in rural and urban areas. We compared syphilis syndromic surveillance (rural standard of care, rapid plasma reagin test with results and treatment at 1-wk follow-up (urban standard of care, and a new rapid test with immediate results and treatment. Test performance data were from a World Health Organization-Special Programme for Research and Training in Tropical Diseases field trial conducted at the GHESKIO Center Groupe Haitien d'Etude du Sarcome de Kaposi et des Infections Opportunistes in Port-au-Prince. Health outcomes were projected using historical data on prenatal syphilis treatment efficacy and included disability-adjusted life years (DALYs of newborns, congenital syphilis cases, neonatal deaths, and stillbirths. Cost-effectiveness ratios are in US dollars/DALY from a societal perspective; annual costs are in US dollars from a payer perspective. Rapid testing with immediate treatment has a cost-effectiveness ratio of $6.83/DALY in rural settings and $9.95/DALY in urban settings. Results are sensitive to regional syphilis prevalence, rapid test sensitivity, and the return rate for follow-up visits. Integrating rapid syphilis testing into a scaled-up national HIV testing and prenatal care program would prevent 1,125 congenital syphilis cases and 1,223 stillbirths or neonatal deaths annually at a cost of $525,000. CONCLUSIONS: In Haiti, integrating a new rapid syphilis test into prenatal care and HIV testing would prevent congenital syphilis cases and stillbirths, and is cost-effective. A

  17. Prenatal and postnatal genetic influence on lung function development

    DEFF Research Database (Denmark)

    Kreiner-Møller, Eskil; Bisgaard, Hans; Bønnelykke, Klaus

    2014-01-01

    BACKGROUND: It is unknown to what extent adult lung function genes affect lung function development from birth to childhood. OBJECTIVE: Our aim was to study the association of candidate genetic variants with neonatal lung function and lung function development until age 7 years. METHODS: Lung...... of methacholine causing a 20% decrease in lung function [PD20]) and with development from birth to age 7 years (FEV0.5/1, FEF50, and PD15/20). RESULTS: The genetic risk scores were not associated with lung function measures at age 1 month, but the FEV1/FVC genetic risk score was associated with reduced FEF50...... function genetic variants identified in adults were not associated with neonatal lung function or bronchial responsiveness but with the development of these lung function measures during early childhood, suggesting a window of opportunity for interventions targeting these genetic mechanisms....

  18. GAMPMS: Genetic algorithm managed peptide mutant screening.

    Science.gov (United States)

    Long, Thomas; McDougal, Owen M; Andersen, Tim

    2015-06-30

    The prominence of endogenous peptide ligands targeted to receptors makes peptides with the desired binding activity good molecular scaffolds for drug development. Minor modifications to a peptide's primary sequence can significantly alter its binding properties with a receptor, and screening collections of peptide mutants is a useful technique for probing the receptor-ligand binding domain. Unfortunately, the combinatorial growth of such collections can limit the number of mutations which can be explored using structure-based molecular docking techniques. Genetic algorithm managed peptide mutant screening (GAMPMS) uses a genetic algorithm to conduct a heuristic search of the peptide's mutation space for peptides with optimal binding activity, significantly reducing the computational requirements of the virtual screening. The GAMPMS procedure was implemented and used to explore the binding domain of the nicotinic acetylcholine receptor (nAChR) α3β2-isoform with a library of 64,000 α-conotoxin (α-CTx) MII peptide mutants. To assess GAMPMS's performance, it was compared with a virtual screening procedure that used AutoDock to predict the binding affinity of each of the α-CTx MII peptide mutants with the α3β2-nAChR. The GAMPMS implementation performed AutoDock simulations for as few as 1140 of the 64,000 α-CTx MII peptide mutants and could consistently identify a set of 10 peptides with an aggregated binding energy that was at least 98% of the aggregated binding energy of the 10 top peptides from the exhaustive AutoDock screening.

  19. Risk, medicine and women: a case study on prenatal genetic counselling in Brazil.

    Science.gov (United States)

    Guilam, Maria Cristina R; Corrêa, Marilena C D V

    2007-08-01

    Genetic counselling is an important aspect of prenatal care in many developed countries. This tendency has also begun to emerge in Brazil, although few medical centres offer this service. Genetic counselling provides prenatal risk control through a process of individual decision-making based on medical information, in a context where diagnostic and therapeutic possibilities overlap. Detection of severe foetal anomalies can lead to a decision involving possible termination of pregnancy. This paper focuses on medical and legal consequences of the detection of severe foetal anomalies, mainly anencephaly and Down syndrome, and in light of the fact that abortion is illegal in Brazil. The discussion is based on the literature and empirical research at a high-complexity public hospital in Rio de Janeiro.

  20. The expressivist objection to prenatal testing: the experiences of families living with genetic disease.

    Science.gov (United States)

    Boardman, Felicity Kate

    2014-04-01

    The expressivist objection to prenatal testing is acknowledged as a significant critique of prenatal testing practices most commonly advanced by disability rights supporters. Such writers argue that prenatal testing and selective termination practices are objectionable as they express disvalue not only of the foetus being tested, but also of disabled people as a whole, by focusing exclusively on the disabling trait. While the objection has been widely critiqued on the basis of its theoretical incoherence, this paper highlights the way in which it, nevertheless, is a significant mediator in decisions around the use of reproductive genetic technologies. By drawing on 41 in-depth qualitative interviews (drawn from a sample of 61) conducted in the UK between 2007 and 2009 with families and individuals living with a genetic disease, Spinal Muscular Atrophy (SMA), this paper highlights the ways in which expressivist objections feature prominently in the reproductive decisions of families living with SMA and the significant emotional burden they represent. While the literature on the expressivist objection has focused on the reproductive decisions of those undergoing prenatal testing for a condition of which they have little (or no) prior knowledge, the context of intimate familial relationships and extensive experience with the tested-for condition fundamentally alters the nature and impact of expressivist objections within families living with an inheritable condition. By focussing on the reproductive decisions of families living with SMA and their strategic management of the expressivist objection, this paper will address the call, made primarily by disability rights supporters, for 'experientially based' (as opposed to medical) information about the tested-for disability to be made available to would-be parents considering selective termination. It will be argued that parents' experiential knowledge of the tested-for disability can, in fact, amplify expressivist

  1. Pregnant Women's Secondhand Smoke Exposure and Receipt of Screening and Brief Advice by Prenatal Care Providers in Argentina and Uruguay

    Science.gov (United States)

    Tong, Van T.; Morello, Paola; Alemán, Alicia; Johnson, Carolyn; Dietz, Patricia M.; Farr, Sherry L.; Mazzoni, Agustina; Berrueta, Mabel; Colomar, Mercedes; Ciganda, Alvaro; Becú, Ana; Gonzalez, Maria G. Bittar; Llambi, Laura; Gibbons, Luz; Smith, Ruben A.; Buekens, Pierre; Belizán, José M.; Althabe, Fernando

    2015-01-01

    Abstract Secondhand smoke (SHS) exposure has negative effects on maternal and infant health. SHS exposure among pregnant women in Argentina and Uruguay has not been previously described, nor has the proportion of those who have received screening and advice to avoid SHS during prenatal care. Women who attended one of 21 clusters of publicly-funded prenatal care clinics were interviewed regarding SHS exposure during pregnancy at their delivery hospitalization during 2011–2012. Analyses were conducted using SURVEYFREQ procedure in SAS version 9.3 to account for prenatal clinic clusters. Of 3,427 pregnant women, 43.4 % had a partner who smoked, 52.3 % lived with household members who smoked cigarettes, and 34.4 % had no or partial smoke-free home rule. Of 528 pregnant women who worked outside of the home, 21.6 % reported past month SHS exposure at work and 38.1 % reported no or partial smoke-free work policy. Overall, 35.9 % of women were exposed to SHS at home or work. In at least one prenatal care visit, 67.2 % of women were screened for SHS exposure, and 56.6 % received advice to avoid SHS. Also, 52.6 % of women always avoided SHS for their unborn baby's health. In summary, a third of pregnant women attending publicly-funded prenatal clinics were exposed to SHS, and only half of pregnant women always avoided SHS for their unborn baby's health. Provider screening and advice rates can be improved in these prenatal care settings, as all pregnant women should be screened and advised of the harms of SHS and how to avoid it. PMID:25427876

  2. Is ultrasound alone enough for prenatal screening of trisomy 18? A single centre experience in 69 cases over 10 years.

    Science.gov (United States)

    Lai, S; Lau, W L; Leung, W C; Lai, F K; Chin, R

    2010-11-01

    To evaluate ultrasound scan and other prenatal screening tests for trisomy 18 in a regional obstetric unit and to review the management approach for women with positive trisomy 18 screening results. Prenatal diagnosis databases were accessed to identify fetuses that had confirmed trisomy 18 karyotypes or were at high risk for trisomy 18 on second-trimester biochemical screening or first-trimester combined screening tests over a period of 10 years from 1 September 1997 to 30 September 2007. Sixty-nine women were confirmed to have trisomy 18 fetuses by karyotyping either prenatally (n = 61) or postnatally/post-miscarriage (n = 8) during the study period. The detection rate of ultrasound scan ≤ 14 weeks and 18 to 21 weeks to detect trisomy 18 was 92.7 and 100%, respectively. A total of 80 and 87% of fetuses had two or more ultrasound abnormalities detected in the ≤ 14 weeks and 18 to 21 weeks anomaly scans, respectively. Forty-eight women screened positive for trisomy 18 by second-trimester biochemical screening with human chorionic gonadotrophin (hCG) and alpha fetoprotein (AFP). Only one was true positive (positive predictive value = 1/48 or 2%). Eleven women screened positive for trisomy 18 by first-trimester combined screening with nuchal translucency scan and maternal serum for pregnancy-associated plasma protein A (PAPP-A) and hCG between 11 and 13 + 6 weeks. Three were true positive (positive predictive value = 3/11 or 27%). All four cases with positive screening had ultrasound abnormalities. Ultrasound scan for fetal anomalies is the most effective screening test for trisomy 18. A policy of conservative management for women with positive second-trimester biochemical screening or first-trimester combined screening for trisomy 18 is reasonable in the absence of ultrasound fetal abnormalities. Unnecessary invasive tests can be avoided.

  3. Clients' psychosocial communication and midwives' verbal and nonverbal communication during prenatal counseling for anomaly screening.

    Science.gov (United States)

    Martin, Linda; Gitsels-van der Wal, Janneke T; Pereboom, Monique T R; Spelten, Evelien R; Hutton, Eileen K; van Dulmen, Sandra

    2016-01-01

    This study focuses on facilitation of clients' psychosocial communication during prenatal counseling for fetal anomaly screening. We assessed how psychosocial communication by clients is related to midwives' psychosocial and affective communication, client-directed gaze and counseling duration. During 184 videotaped prenatal counseling consultations with 20 Dutch midwives, verbal psychosocial and affective behavior was measured by the Roter Interaction Analysis System (RIAS). We rated the duration of client-directed gaze. We performed multilevel analyses to assess the relation between clients' psychosocial communication and midwives' psychosocial and affective communication, client-directed gaze and counseling duration. Clients' psychosocial communication was higher if midwives' asked more psychosocial questions and showed more affective behavior (β=0.90; CI: 0.45-1.35; pcommunication was not related to midwives" client-directed gaze. Additionally, psychosocial communication by clients was directly, positively related to the counseling duration (β=0.59; CI: 0.20-099; p=0.004). In contrast with our expectations, midwives' client-directed gaze was not related with psychosocial communication of clients. In addition to asking psychosocial questions, our study shows that midwives' affective behavior and counseling duration is likely to encourage client's psychosocial communication, known to be especially important for facilitating decision-making. Copyright © 2015 The Authors. Published by Elsevier Ireland Ltd.. All rights reserved.

  4. Advantages and Disadvantages of Different Implementation Strategies of Non-Invasive Prenatal Testing in Down Syndrome Screening Programmes

    NARCIS (Netherlands)

    Mersy, E.; Die-Smulders, C.E. de; Coumans, A.B.; Smits, L.J.; Wert, G.M.W.R. de; Frints, S.G.; Veltman, J.A.

    2015-01-01

    BACKGROUND: Implementation of non-invasive prenatal testing (NIPT) in Down syndrome screening programmes requires health policy decisions about its combination with other tests and its timing in pregnancy. AIM: Our aim was to aid health policy decision makers by conducting a quantitative analysis of

  5. Prevalence, timing of diagnosis and pregnancy outcome of abdominal wall defects after the introduction of a national prenatal screening program

    NARCIS (Netherlands)

    Fleurke-Rozema, Hanneke; van de Kamp, Karline; Bakker, Marian; Pajkrt, Eva; Bilardo, Caterina; Snijders, Rosalinde

    ObjectiveTo examine prevalence, time of diagnosis and outcome of fetuses with an exomphalos or gastroschisis, diagnosed since the introduction of a national prenatal screening program in 2007. MethodsA prospective cohort study was undertaken in two fetal medicine units in the Netherlands. Cases were

  6. Prenatal parenting.

    Science.gov (United States)

    Glover, Vivette; Capron, Lauren

    2017-06-01

    Parenting begins before birth. This includes prenatal maternal and paternal bonding with the baby, and biological effects on fetal development. Recent research has confirmed how prenatal maternal stress can alter the development of the fetus and the child, and that this can persist until early adulthood. Children are affected in different ways depending, in part, on their own genetic makeup. The fetus may also have a direct effect on prenatal maternal mood and later parenting behaviour via the placenta. The father is important prenatally too. An abusive partner can increase the mother's prenatal stress and alter fetal development, but he can also be an important source of emotional support. New research suggests the potential benefits of prenatal interventions, including viewing of prenatal scans and cognitive behavioural therapy. Copyright © 2017 Elsevier Ltd. All rights reserved.

  7. Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures?

    Science.gov (United States)

    Nahar, Risha; Puri, Ratna D; Saxena, Renu; Verma, Ishwar C

    2013-01-01

    Surveys of attitudes of individuals with deafness and their families towards genetic testing or prenatal diagnosis have mostly been carried out in the West. It is expected that the perceptions and attitudes would vary amongst persons of different cultures and economic background. There is little information on the prevailing attitudes for genetic testing and prenatal diagnosis for deafness in developing countries. Therefore, this study evaluates the motivations of Indian people with inherited hearing loss towards such testing. Twenty-eight families with history of congenital hearing loss (23 hearing parents with child/family member with deafness, 4 couples with both partners having deafness and 1 parent and child with deafness) participated in a semi-structured survey investigating their interest, attitudes, and intentions for using genetic and prenatal testing for deafness. Participants opinioned that proper management and care of individuals with deafness were handicapped by limited rehabilitation facilities with significant financial and social burden. Nineteen (68%) opted for genetic testing. Twenty-six (93%) expressed high interest in prenatal diagnosis, while 19 (73%) would consider termination of an affected fetus. Three hearing couples, in whom the causative mutations were identified, opted for prenatal diagnosis. On testing, all the three fetuses were affected and the hearing parents elected to terminate the pregnancies. This study provides an insight into the contrasting perceptions towards hearing disability in India and its influence on the desirability of genetic testing and prenatal diagnosis.

  8. Genetic Counseling and Prenatal Diagnosis of Triploidy During the Second Trimester of Pregnancy

    Science.gov (United States)

    Kolarski, Milenko; Ahmetovic, Begzudin; Beres, Maja; Topic, Radomir; Nikic, Vedran; Kavecan, Ivana; Sabic, Semin

    2017-01-01

    Introduction: Triploidy is a lethal chromosomal numeric abnormality, characterized on extra haploid set of chromosomes. It occurs in 2 to 3% of conceptuses and accounts for approximately 20% of chromosomally abnormal first-trimester miscarriages. As such, triploidy is estimated to occur in 1 of 3,500 pregnancies at 12 weeks’, 1 in 30,000 at 16 weeks’, and 1 in 250,000 at 20 weeks’ gestation. Case report: We present a case of second-trimester triploidy diagnosed prenataly at our center. 28-years-old gravida with a first spontaneous pregnancy had early gestational hypertension. Ultrasound examination in 146/7 weeks’ gestation revealed asymmetric intrauterine growth retardation. We recommended biochemical maternal serum screening during second trimester of pregnancy (AFP, HCG, uE3). Result of biochemical screening was indication for cytogenetic analysis from amniotic fluid cells and we recommended early amniocentesis in 156/7 weeks’ gestation. Result showed abnormal karyotype of the fetus (69,XXX triploidy), and DNA analysis confirmed Type-2 Diginy. Parents decided to terminate this pregnancy, and it was done at 22 weeks’ gestation. Conclusion: We emphasize the importance of non-invasive prenatal exminationes-biochemical serum screening during second trimester of pregnancy, and ultrasound examinations in prenatal screening of syndroma Down and other chromosomal abnormalities. PMID:28790549

  9. Periodic health examination, 1996 update: 1. Prenatal screening for and diagnosis of Down syndrome. Canadian Task Force on the Periodic Health Examination.

    OpenAIRE

    Dick, P. T.

    1996-01-01

    OBJECTIVE: To make recommendations to physicians providing prenatal care on (1) whether prenatal screening for and diagnosis of Down syndrome (DS) is advisable and (2) alternative screening and diagnosis manoeuvres. OPTIONS: "Triple-marker" screening of maternal serum levels of alpha-fetoprotein, human chorionic gonadotropin and unconjugated estriol; fetal ultrasonographic examination; amniocentesis; and chorionic villus sampling (CVS). OUTCOMES: Accuracy of detection of DS in fetuses, and ri...

  10. Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome

    DEFF Research Database (Denmark)

    Boyd, P A; Devigan, C; Khoshnood, B

    2008-01-01

    screening policies in 18 countries and 1.13 million births in 12 countries in 2002-04. METHODS: (i) Questionnaire on national screening policies and termination of pregnancy for fetal anomaly (TOPFA) laws in 2004. (ii) Analysis of data on prenatal detection and termination for Down's syndrome and neural...... tube defects (NTDs) using the EUROCAT database. MAIN OUTCOME MEASURES: Existence of national prenatal screening policies, legal gestation limit for TOPFA, prenatal detection and termination rates for Down's syndrome and NTD. RESULTS: Ten of the 18 countries had a national country-wide policy for Down...

  11. Comparison of Different Blood Collection, Sample Matrix, and Immunoassay Methods in a Prenatal Screening Setting

    Directory of Open Access Journals (Sweden)

    Jeroen L. A. Pennings

    2014-01-01

    Full Text Available We compared how measurements of pregnancy-associated plasma protein A (PAPP-A and the free beta subunit of human chorionic gonadotropin (fβ-hCG in maternal blood are influenced by different methods for blood collection, sample matrix, and immunoassay platform. Serum and dried blood spots (DBS were obtained by venipuncture and by finger prick of 19 pregnant women. PAPP-A and fβ-hCG from serum and from DBS were measured by conventional indirect immunoassay on an AutoDELFIA platform and by antibody microarray. We compared methods based on the recoveries for both markers as well as marker levels correlations across samples. All method comparisons showed high correlations for both marker concentrations. Recovery levels of PAPP-A from DBS were 30% lower, while those of fβ-hCG from DBS were 50% higher compared to conventional venipuncture serum. The recoveries were not affected by blood collection or immunoassay method. The high correlation coefficients for both markers indicate that DBS from finger prick can be used reliably in a prenatal screening setting, as a less costly and minimally invasive alternative for venipuncture serum, with great logistical advantages. Additionally, the use of antibody arrays will allow for extending the number of first trimester screening markers on maternal and fetal health.

  12. Prenatal screening for Down syndrome and for structural congenital anomalies in the Netherlands: Information provision, informed decision-making and participation

    NARCIS (Netherlands)

    M.H.M.H.J.D. Schoonen (Marleen)

    2011-01-01

    textabstractCongenital anomalies are the leading cause of death and morbidity in children under 1 year of age. Down syndrome and neural tube defects are congenital anomalies that may be diagnosed before birth using prenatal tests. In the Netherlands, prenatal screening for Down syndrome and for stru

  13. Prenatal screening for Down syndrome and for structural congenital anomalies in the Netherlands: Information provision, informed decision-making and participation

    NARCIS (Netherlands)

    M.H.M.H.J.D. Schoonen (Marleen)

    2011-01-01

    textabstractCongenital anomalies are the leading cause of death and morbidity in children under 1 year of age. Down syndrome and neural tube defects are congenital anomalies that may be diagnosed before birth using prenatal tests. In the Netherlands, prenatal screening for Down syndrome and for stru

  14. Genetic Screening for Familial Gastric Cancer

    Directory of Open Access Journals (Sweden)

    Oliveira Carla

    2004-05-01

    Full Text Available Abstract Approximately 10% of gastric cancer cases show familial clustering but only 1-3% of gastric carcinomas arise as a result of inherited gastric cancer predisposition syndromes. Direct proof that Hereditary Gastric Cancer a genetic disease with a germline gene defect has come from the demonstration of co-segregation of germline E-cadherin (CDH1 mutations with early onset diffuse gastric cancer in families with an autosomal dominant pattern of inheritance (HDGC. E-cadherin is a transmembrane calcium-dependent cell-adhesion molecule involved in cell-junction formation and the maintenance of epithelial integrity. In this review, we describe frequency and type of CDH1 mutations in sporadic and familial gastric cancer. Further we demonstrate the functional significance of some CDH1 germline missense mutations found in HDGC. We also discuss the CDH1 polymorphisms that have been associated to gastric cancer. We report other types of malignancies associated to HDGC, besides diffuse gastric cancer. Moreover, we review the data available on putative alternative candidate genes screened in familial gastric cancer. Finally, we briefly discuss the role of low-penetrance genes and Helicobacter pylori in gastric cancer. This knowledge is a fundamental step towards accurate genetic counselling, in which a highly specialised pre-symptomatic therapeutic intervention should be offered.

  15. Prenatal ultrasound screening: false positive soft markers may alter maternal representations and mother-infant interaction.

    Directory of Open Access Journals (Sweden)

    Sylvie Viaux-Savelon

    Full Text Available BACKGROUND: In up to 5% of pregnancies, ultrasound screening detects a "soft marker" (SM that places the foetus at risk for a severe abnormality. In most cases, prenatal diagnostic work-up rules out a severe defect. We aimed to study the effects of false positive SM on maternal emotional status, maternal representations of the infant, and mother-infant interaction. METHODOLOGY AND PRINCIPAL FINDINGS: Utilizing an extreme-case prospective case control design, we selected from a group of 244 women undergoing ultrasound, 19 pregnant women whose foetus had a positive SM screening and a reassuring diagnostic work up, and 19 controls without SM matched for age and education. In the third trimester of pregnancy, within one week after delivery, and 2 months postpartum, we assessed anxiety, depression, and maternal representations. Mother-infant interactions were videotaped during feeding within one week after delivery and again at 2 months postpartum and coded blindly using the Coding Interactive Behavior (CIB scales. Anxiety and depression scores were significantly higher at all assessment points in the SM group. Maternal representations were also different between SM and control groups at all study time. Perturbations to early mother-infant interactions were observed in the SM group. These dyads showed greater dysregulation, lower maternal sensitivity, higher maternal intrusive behaviour and higher infant avoidance. Multivariate analysis showed that maternal representation and depression at third trimester predicted mother-infant interaction. CONCLUSION: False positive ultrasound screenings for SM are not benign and negatively affect the developing maternal-infant attachment. Medical efforts should be directed to minimize as much as possible such false diagnoses, and to limit their psychological adverse consequences.

  16. Impact of Cell-Free Fetal DNA Screening on Patients’ Choice of Invasive Procedures after a Positive California Prenatal Screen Result

    Directory of Open Access Journals (Sweden)

    Forum T. Shah

    2014-07-01

    Full Text Available Until recently, maternal serum analyte levels paired with sonographic fetal nuchal translucency measurement was the most accurate prenatal screen available for Trisomies 18 and 21, (91% and 94% detection and false positive rates of 0.31% and 4.5% respectively. Women with positive California Prenatal Screening Program (CPSP results have the option of diagnostic testing to determine definitively if the fetus has a chromosomal abnormality. Cell-free fetal (cff- DNA screening for Trisomies 13, 18, and 21 was first offered in 2012, allowing women with positive screens to choose additional screening before diagnostic testing. Cff-DNA sensitivity rates are as high as 99.9% and 99.1%, with false positive rates of 0.4% and 0.1%, for Trisomies 18 and 21, respectively. A retrospective chart review was performed in 2012 on 500 CPSP referrals at the University of California, San Diego Thornton Hospital. Data were collected prior to and after the introduction of cff-DNA. There was a significant increase in the number of participants who chose to pursue additional testing and a decrease in the number of invasive procedures performed after cff-DNA screening was available. We conclude that as fetal aneuploidy screening improves, the number of invasive procedures will continue to decrease.

  17. Carrier Screening and Prenatal Gene Diagnosis of β-thalassemia by PCR-RDB Technique

    Institute of Scientific and Technical Information of China (English)

    张宏秀; 单可人; 惠春林; 何燕; 袁筑华; 窦友莲; 曾金琳; 谢渊; 修瑾

    2003-01-01

    In order to identify the distribution of gene types of β-thalassemia and reduce the birthrates of β-thalassemia major in Guiyang area, 1054 pregnant women and their spouses from Affiliated Hospital, Guiyang Medical College were screened. The positive samples were analyzed with polymerase chain reaction and reverse dot blot method (PCR-RDB). When both partners were heterozygous identified as carriers for β- thalassemia, the risk of having a fetus who was homozygous or compound heterozygous was 2.66 %; the ratio of male to female was 1/1.15. Seven types of mutation were identified. CD17 and CD41-42 were dominant among them. Among the 4 cases subject to prenatal gene diagnosis, one fetus was completely normal and 3 fetuses were diagnosed as having β-thalassemia major (1 homozygous and 2 compound heterozygous). The fetuses diagnosed as β-thalassemia major were selectively terminated within two weeks. It was concluded that the birthrate of β-thalassemia major in Guiyang area was reduced and the target of improving birth outcome and child development has been achieved.

  18. Neonatal Screening: Some Ethical Issues of Expanding Spectrum for Genetically Determined Diseases

    Directory of Open Access Journals (Sweden)

    S. S. Deryabina

    2015-01-01

    Full Text Available The article considers philosophical questions of neonatal screening technology. The main focus is on ethical and methodological issues that inevitably arise when expanding the number of scanned nosologies and applying genetic research methods. Questions concerning the existing discrepancy between technical capacity and the practical level of healthcare delivery and the probabilistic nature of results obtained by molecular testing are analyzed in terms of methodology. Access to information about the DNA-testing of newborns and the linkage between neonatal screening and prenatal diagnostics are among the most topical ethical problems raised within this article. One of the purposes of this article is to draw the attention of the public — especially it concerns current and prospective parents and volunteer organizations — to these contemporary problems.

  19. Epidemiologic aspects of neural tube defects in the United States: changing concepts and their importance for screening and prenatal diagnostic programs

    Energy Technology Data Exchange (ETDEWEB)

    Sever, L.E.; Strassburg, M.A.

    1983-09-01

    This report considers several major epidemiologic aspects of neural tube defects (NTDs). After examining briefly the approaches and goals of epidemiology the traditional epidemiologic concepts of NTDs are reviewed and new interpretations of the epidemiology of these defects is suggested. Three major topics are addressed: (1) that much of our knowledge of the epidemiology of the NTDs comes from areas or periods of high rates of occurrence and that generalizations based on these data may not be applicable to low incidence situations; (2) that the etiology of these defects is multifactorial, involving interaction between genetic and nongenetic factors which may differ in their relative importance between populations; and (3) that anencephalus and spina bifida may be more epidemiologically and etiologically distinct than is usually appreciated. A final consideration deals with some recent contributions of epidemiology to screening and prenatal diagnosis programs.

  20. A Genetic Instrumental Variables Analysis of the Effects of Prenatal Smoking on Birth Weight: Evidence from Two Samples

    Science.gov (United States)

    Lehrer, Steven F.; Moreno, Lina M.; Murray, Jeffrey C.; Wilcox, Allen; Lie, Rolv T.

    2011-01-01

    There is a large literature showing the detrimental effects of prenatal smoking on birth and childhood health outcomes. It is somewhat unclear, though, whether these effects are causal or reflect other characteristics and choices by mothers who choose to smoke that may also affect child health outcomes or biased reporting of smoking. In this paper, we use genetic markers that predict smoking behaviors as instruments in order to address the endogeneity of smoking choices in the production of birth and childhood health outcomes. Our results indicate that prenatal smoking produces more dramatic declines in birth weight than estimates that ignore the endogeneity of prenatal smoking, which is consistent with previous studies with non-genetic instruments. We use data from two distinct samples from Norway and the US with different measured instruments and find nearly identical results. The study provides a novel application that can be extended to study several behavioral impacts on health, social and economic outcomes. PMID:21845925

  1. Prenatal and Early Postnatal Diagnosis of Congenital Toxoplasmosis in a Setting With No Systematic Screening in Pregnancy.

    Science.gov (United States)

    Stajner, Tijana; Bobic, Branko; Klun, Ivana; Nikolic, Aleksandra; Srbljanovic, Jelena; Uzelac, Aleksandra; Rajnpreht, Irena; Djurkovic-Djakovic, Olgica

    2016-03-01

    To determine the risk of congenital toxoplasmosis (CT) and provide early (pre- or postnatal) identification of cases of CT in the absence of systematic screening in pregnancy.I n the presented cross-sectional study, serological criteria were used to date Toxoplasma gondii infection versus conception in 80 pregnant women with fetal abnormalities or referred to as suspected of acute infection, and in 16 women after delivery of symptomatic neonates. A combination of serological, molecular (qPCR), and biological (bioassay) methods was used for prenatal and/or postnatal diagnosis of CT. Most (77.5%) pregnant women were examined in advanced pregnancy. Of all the examined seropositive women (n = 90), infection could not be ruled out to have occurred during pregnancy in 93.3%, of which the majority (69%) was dated to the periconceptual period. CT was diagnosed in 25 cases, of which 17 prenatally and 8 postnatally. Molecular diagnosis proved superior, but the diagnosis of CT based on bioassay in 7 instances and by Western blot in 2 neonates shows that other methods remain indispensable. In the absence of systematic screening in pregnancy, maternal infection is often diagnosed late, or even only when fetal/neonatal infection is suspected. In such situations, use of a complex algorithm involving a combination of serological, biological, and molecular methods allows for prenatal and/or early postnatal diagnosis of CT, but lacks the preventive capacity provided by early maternal treatment.

  2. Clinical experience from Thailand noninvasive prenatal testing as screening tests for trisomies 21, 18 and 13 in 4736 pregnancies

    DEFF Research Database (Denmark)

    Manotaya, S.; Uerpairojkit, B.; Chen, F.

    2016-01-01

    PurposeThe purpose of this article is to report the clinical experience and performance of massively parallel sequencing-based noninvasive prenatal testing (NIPT) as a screening method in detecting trisomy 21, 18, and 13 (T21/T18/T13) in a mixed-risk population in Thailand. MethodsIn a 30-month...... period, 121 medical centers in Thailand offered NIPT as clinical screening tests for fetal T21, T18, and T13 in the mixed-risk population. All NIPT-positive cases were recommended to undergo invasive prenatal diagnosis. ResultsA total of 4736 participants received the NIPT test, including 2840 high...... 36T21, 19T18, and 8T13; 82.5% (52/63) took prenatal diagnosis, and 11.5% (6/52) false-positive cases were observed. The positive predictive values for the detection of T21, T18, and T13 were 94.4%, 79.0%, and 87.5%, respectively. ConclusionWith stringent protocol, our prospective large...

  3. [Biochemical screening and genetic diagnosis of thalassemia in children from Kunming].

    Science.gov (United States)

    Wen, Bai-Ping; Fan, Mao; Dai, Hong-Jian; Zhuang, Yu; Liu, Hong-Ling; Yang, Jun-Yi; Yang, Xiao-Hong; Deng, Wen-Guo

    2011-02-01

    To investigate the types and frequency of gene mutations in children with thalassemia in Kunming, Yunan Province. A biochemical screening for thalassemia was performed by testing RBC fragility, MCV and hemoglobin electrophoresis on 1338 children from Kunming, Yunnan Province. Genetic diagnosis was performed on the children with α-thalassemia by gap-PCR and on the children with β-thalassemia by PCR-RDB. The positive rate of the biochemical screening for thalassemia was 11.36% (152 cases). The positive rate of genetic diagnosis was 8.59% (115 cases). Of the 115 cases, α-thalassemia was found in 43 cases, β-thalassemia in 68 cases and α-combined-β thalassemia in 4 cases.--SEA/αα accounted for 47%, -α4.2/αα accounted for 21%, and HbH disease accounted for 14%. Six genotypes were found in 68 cases of β-thalassemia and the mutation frequency of βE was the highest (32%), followed by CD41-42 (24%), CD17 (23%), IVS-II654 (10%), CD71-72 (10%), and -28 (1%). The frequency of gene mutations for thalassemia is high in children from Kunming, Yunnan Province. Premarital and prenatal screenings and genetic diagnosis for thalassemia should be carried out in this area.

  4. Prenatal Diagnosis

    Directory of Open Access Journals (Sweden)

    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

  5. The art and design of genetic screens: maize.

    Science.gov (United States)

    Candela, Héctor; Hake, Sarah

    2008-03-01

    Maize (Zea mays) is an excellent model for basic research. Genetic screens have informed our understanding of developmental processes, meiosis, epigenetics and biochemical pathways--not only in maize but also in other cereal crops. We discuss the forward and reverse genetic screens that are possible in this organism, and emphasize the available tools. Screens exploit the well-studied behaviour of transposon systems, and the distinctive chromosomes allow an integration of cytogenetics into mutagenesis screens and analyses. The imminent completion of the maize genome sequence provides the essential resource to move seamlessly from gene to phenotype and back.

  6. Difference and Choice: Exploring Prenatal Testing and the Use of Genetic Information with People with Learning Difficulties.

    Science.gov (United States)

    Ward, Linda; Howarth, Joyce; Rodgers, Jackie

    2002-01-01

    This article describes two workshops that explained the use of prenatal testing and genetic information to inform choices in pregnancy to people with learning difficulties, explored the issues with them, and describe the contribution subsequently made by these people to a British national conference on this subject. (Contains references.)…

  7. Technology-Driven and Evidence-Based Genomic Analysis for Integrated Pediatric and Prenatal Genetics Evaluation

    Institute of Scientific and Technical Information of China (English)

    Yuan Wei; Fang Xu; Peining Li

    2013-01-01

    The first decade since the completion of the Human Genome Project has been marked with rapid development of genomic technologies and their immediate clinical applications.Genomic analysis using oligonucleotide array comparative genomic hybridization (aCGH) or single nucleotide polymorphism (SNP) chips has been applied to pediatric patients with developmental and intellectual disabilities (DD/ID),multiple congenital anomalies (MCA) and autistic spectrum disorders (ASD).Evaluation of analytical and clinical validities of aCGH showed > 99% sensitivity and specificity and increased analytical resolution by higher density probe coverage.Reviews of case series,multi-center comparison and large patient-control studies demonstrated a diagnostic yield of 12%-20%; approximately 60% of these abnormalities were recurrent genomic disorders.This pediatric experience has been extended toward prenatal diagnosis.A series of reports indicated approximately 10% of pregnancies with ultrasound-detected structural anomalies and normal cytogenetic findings had genomic abnormalities,and 30% of these abnormalities were syndromic genomic disorders.Evidence-based practice guidelines and standards for implementing genomic analysis and web-delivered knowledge resources for interpreting genomic findings have been established.The progress from this technology-driven and evidence-based genomic analysis provides not only opportunities to dissect disease-causing mechanisms and develop rational therapeutic interventions but also important lessons for integrating genomic sequencing into pediatric and prenatal genetic evaluation.

  8. Prenatal Testing for Adult-Onset Conditions: the Position of the National Society of Genetic Counselors.

    Science.gov (United States)

    Hercher, Laura; Uhlmann, Wendy R; Hoffman, Erin P; Gustafson, Shanna; Chen, Kelly M

    2016-12-01

    Advances in genetic testing and the availability of such testing in pregnancy allows prospective parents to test their future child for adult-onset conditions. This ability raises several complex ethical issues. Prospective parents have reproductive rights to obtain information about their fetus. This information may or may not alter pregnancy management. These rights can be in conflict with the rights of the future individual, who will be denied the right to elect or decline testing. This paper highlights the complexity of these issues, details discussions that went into the National Society of Genetic Counselors (NSGC) Public Policy Task Force's development of the Prenatal testing for Adult-Onset Conditions position statement adopted in November 2014, and cites relevant literature on this topic through December 2015. Issues addressed include parental rights and autonomy, rights of the future child, the right not to know, possible adverse effects on childhood and the need for genetic counseling. This paper will serve as a reference to genetic counselors and healthcare professionals when faced with this situation in clinical practice.

  9. The Status of Quality Control Investigation and Analysis for Maternal Serum Marker of Prenatal Screening Laboratories in China.

    Science.gov (United States)

    He, Falin; Wang, Wei; Zhong, Kun; Yuan, Shuai; Wang, Zhiguo

    2017-01-01

    This national survey was initiated to investigate the current status of quality control practice of prenatal screening by statistical analysis of the previous half year data of prenatal screening in 2015. Data were sent to all Chinese prenatal screening centers via the National Quality Assessment Scheme. This covered the software used, the risk cutoffs, monthly sample throughput, monthly median MoM of AFP, HCG, β-HCG, free β-HCG and uE3, monthly screening positive rates for trisomy 21, trisomy 18, and Open Neural Tube Defect (ONTD). Screening protocols were versatile, 73.5% (133/181) used the two-marker model, 24.3% (44/181) used the three-marker model, and 2.2% used the four-marker model. Regarding the software used, 350 laboratories never updated the screening parameters, 89 laboratories had updated their median or parameter by manufacturers, and 24 laboratories had updated the parameters by themselves. Cutoffs differ between laboratories. 59.9% (275/459) use 1/270 as their cutoffs for trisomy 21. 66.2% (296/447) use 1/350 as their cutoff for trisomy 18. 96.5% (361/374) use cutoffs between 2.0 - 2.5 MoM for ONTD. Regarding the results of the monthly median MoM, the percentage of laboratories for which all six monthly median MoMs were within the target of 0.90 - 1.10 was 46.7% (155/332) for AFP, 20.0% (4/20) for hCG, 29.2% (28/96) for β-HCG, 15.7% (31/198) for free β-HCG, and 4.8% (11/228) for uE3. The percentage of laboratories for which all six monthly median MoMs were within the target of 0.95 - 1.05 was 14.2% (47/332) for AFP, 0% (0/20) for HCG, 4.3% (4/96) for β-HCG, 12.6% (31/198) for free β-HCG, and 4.8% (11/228) for uE3. Regarding the screening positive rate, there was a difference in the trisomy 21 positive rate in the same laboratory within the six month. There were variations in the types of screening protocols, different kinds of soft platforms, randomness of choice or update of medians or other important parameters, and great difference in the

  10. Prenatal Genetic Diagnosis in 481 Amniocentesis, Chorion Villi Sample and Cordocentesis Specimens

    Directory of Open Access Journals (Sweden)

    Turgay Budak

    2007-01-01

    Full Text Available In this study, we evaluated a total of 481 amniocentesis , cordocentesis and corion villi sample specimens from patients who were referred to the Prenatal Diagnostic Laboratory of Department of Medical Biology and Genetics Department of Medical Faculty of University of Dicle, between 1999 and 2001. A total of 24 specimens were found cytogenetically abnormal, of which 11 were trisomy 21 ( Down Syndrome, two were Down Syndrome with Robertsonian type of translocation between chromosome 14 and 21, one was mosaic Down Syndrome , one was balanced translocated chromosome carrier, two were Turner Syndrome, one was triple X syndrome, two were triploidy, one was partial trisomy 3, one was derivative chromosome, one was nonrepetitive numerical and structural abnormality, and one was marker chromosome. Unfortunately, we could not have results in 15 of culture samples. There were no false positive and false negative results.

  11. Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome

    DEFF Research Database (Denmark)

    Viuff, Mette Hansen; Krag, Kirstine Stochholm; Uldbjerg, Niels

    2015-01-01

    STUDY QUESTION: How does a national prenatal screening program for Down syndrome (DS) perform in detecting sex chromosome abnormalities (SCAs)-Turner syndrome (TS), Klinefelter syndrome, 47,XXX and 47,XYY syndromes. SUMMARY ANSWER: The SCA detection rate resulting from DS screening was below 50...... screening procedure detected 87 per 100 000 TS (42% of expected), 19 per 100 000 Klinefelter syndrome (13% of expected), 16 per 100 000 47,XXX (16% of cases) and 5 per 100 000 47,XYY (5% of expected) SCAs, with an overall detection rate of 27%. Compared with controls, all four SCA groups showed...... significantly higher NT and lower PAPP-A compared with controls (all P syndromes (47,XXX: 24%; 47,XYY: 29%; Klinefelter syndrome: 48%, TS: 84%). For SCA fetuses carried to term, only TS fetuses had consistently lower birthweights...

  12. Antenatal screening and the gendering of genetic responsibility

    Directory of Open Access Journals (Sweden)

    Reed Kate

    2007-09-01

    Full Text Available Abstract Background The objective of this study is to explore men's and women's perceptions of antenatal blood screening. The study will assess the impact of these perceptions on decision-making regarding diagnostic testing and selective abortion, and on parental feelings of genetic responsibility. By exploring gender and antenatal screening in this way, the research aims to contribute to our understanding of lay perceptions of genetic screening and increase our knowledge of the decision-making process in screening. Research design This qualitative study will be based on semi-structured interviews with twenty pregnant women and twenty male partners in the post-industrial city of Sheffield, UK. All interviews will be taped, transcribed and analysed thematically using NVIVO, a qualitative software package. Discussion The findings of this study have relevance to existing debates on the social and ethical implications of reproductive genetics. A better understanding of male and female perceptions of the screening process could improve guidance and practice in antenatal screening and genetic counselling. It will also inform and contribute to the development of theory on gender and genetic screening.

  13. Preimplantation Genetic Diagnosis: Prenatal Testing for Embryos Finally Achieving Its Potential

    Directory of Open Access Journals (Sweden)

    Harvey J. Stern

    2014-03-01

    Full Text Available Preimplantation genetic diagnosis was developed nearly a quarter-century ago as an alternative form of prenatal diagnosis that is carried out on embryos. Initially offered for diagnosis in couples at-risk for single gene genetic disorders, such as cystic fibrosis, spinal muscular atrophy and Huntington disease, preimplantation genetic diagnosis (PGD has most frequently been employed in assisted reproduction for detection of chromosome aneuploidy from advancing maternal age or structural chromosome rearrangements. Major improvements have been seen in PGD analysis with movement away from older, less effective technologies, such as fluorescence in situ hybridization (FISH, to newer molecular tools, such as DNA microarrays and next generation sequencing. Improved results have also started to be seen with decreasing use of Day 3 blastomere biopsy in favor of polar body or Day 5 trophectoderm biopsy. Discussions regarding the scientific, ethical, legal and social issues surrounding the use of sequence data from embryo biopsy have begun and must continue to avoid concern regarding eugenic or inappropriate use of this technology.

  14. Reconsidering prenatal screening: an empirical-ethical approach to understand moral dilemmas as a question of personal preferences.

    Science.gov (United States)

    García, E; Timmermans, D R M; van Leeuwen, E

    2009-07-01

    In contrast to most Western countries, routine offer of prenatal screening is considered problematic in the Netherlands. The main argument against offering it to every pregnant woman is that women would be brought into a moral dilemma when deciding whether to use screening or not. This paper explores whether the active offer of a prenatal screening test indeed confronts women with a moral dilemma. A qualitative study was developed, based on a randomised controlled trial that aimed to assess the decision-making process of women when confronted with a test offer. A sample of 59 women was interviewed about the different factors balanced in decision-making. Participants felt themselves caught between a need for knowledge and their unwillingness to take on responsibility. Conflict was reported between wishes, preferences and ethical views regarding parenthood; however, women did not seem to be caught in a choice between two or more ethical principles. Participants balanced the interests of the family against that of the fetus in line with their values and their personal circumstances. Therefore, we conclude that they are not so much faced with an ethical dilemma as conflicting interests. We propose that caregivers should provide the opportunity for the woman to discuss her wishes and doubts to facilitate her decision. This approach would help women to assess the meaning of testing within their parental duties towards their unborn child and their current offspring.

  15. 唐氏综合征产前筛查的研究进展%Research progress of Down's syndrome in prenatal screening

    Institute of Scientific and Technical Information of China (English)

    刘维娜

    2011-01-01

    Down's syndrome (DS), one of the autosomal diseases, is one of the most common genetic type of congenital mental retardation. It occupies for 10%-15% in the children suffering from mental retardation. This disease severely results in birth defects, which affects the mental and physical development and leads to disability or death. There is no effective therapy method in clinic yet. Therefore, it is very important for aristogenesis in prenatal screening and diagnosis for the high-risk patients and termination of pregnancy of women pregnant with DS. The latest research on prenatal screening of DS was reviewed in this paper.%唐氏综合征(Down's syndrome,DS)是一种最常见的常染色体遗传病之一,是先天性智力低下最常见的遗传类型.10%~15%的智力低下儿童罹患该病.该疾病影响个体智能发育和体格发育,是致残和致死的严重出生缺陷,至今尚无有效的治疗方法.因此,对该疾病进行产前筛查,再对受检者中高风险者进行产前诊断,让妊娠DS患儿的孕妇终止妊娠,才能达到优生目的.本文就DS产前筛查的最新研究进展作一综述.

  16. Private and public eugenics: genetic and screening in India

    NARCIS (Netherlands)

    Gupta, J.A.

    2007-01-01

    Epidemiologists and geneticists claim that genetics has an increasing role to play in public health policies and programs in the future. Within this perspective, genetic testing and screening are instrumental in avoiding the birth of children with serious, costly or untreatable disorders. This paper

  17. Genetic counseling for a prenatal diagnosis of structural chromosomal abnormality with high-resolution analysis using a single nucleotide polymorphism microarray

    Directory of Open Access Journals (Sweden)

    Akiko Takashima

    2016-08-01

    Full Text Available A 41-year old pregnant woman underwent amniocentesis to conduct a conventional karyotyping analysis; the analysis reported an abnormal karyotype: 46,XY,add(9(p24. Chromosomal microarray analysis (CMA is utilized in prenatal diagnoses. A single nucleotide polymorphism microarray revealed a male fetus with balanced chromosomal translocations on 9p and balanced chromosomal rearrangements, but another chromosomal abnormality was detected. The fetus had microduplication. The child was born as a phenotypically normal male. CMA is a simple and informative procedure for prenatal genetic diagnosis. CMA is the detection of chromosomal variants of unknown clinical significance; therefore, genetic counseling is important during prenatal genetic testing.

  18. Genetic dissection of mammalian ERAD through comparative haploid and CRISPR forward genetic screens

    DEFF Research Database (Denmark)

    Timms, Richard T.; Menzies, Sam A.; Tchasovnikarova, Iva A.

    2016-01-01

    The application of forward genetic screens to cultured human cells represents a powerful method to study gene function. The repurposing of the bacterial CRISPR/Cas9 system provides an effective method to disrupt gene function in mammalian cells, and has been applied to genome-wide screens. Here, we...... compare the efficacy of genome-wide CRISPR/Cas9-mediated forward genetic screens versus gene-trap mutagenesis screens in haploid human cells, which represent the existing ‘gold standard’ method. This head-to-head comparison aimed to identify genes required for the endoplasmic reticulum....../3-associated disulphide reductase. Genome-wide CRISPR/Cas9-mediated screens together with haploid genetic screens provide a powerful addition to the forward genetic toolbox....

  19. "People Say It's a Little Uncomfortable": Prenatal Genetic Counselors' Use of Constructed Dialogue to Reference Procedural Pain.

    Science.gov (United States)

    Gordon, Cynthia; Prince, Michele B; Benkendorf, Judith L; Hamilton, Heidi E

    2002-08-01

    Prenatal genetic counseling involves an exchange of information between counselors and clients, including verbal descriptions of the potential pain of invasive prenatal diagnosis procedures such as amniocentesis. This paper describes the use of one linguistic feature in one context. It considers how two counselors describe procedural pain in 17 prenatal genetic counseling sessions, audiotaped as part of a larger data-driven study using sociolinguistic methodologies to characterize the discourse of genetic counseling. Analysis reveals that "constructed dialogue," or reporting something another person said, is a strategy used frequently by the counselors for describing procedural pain. Examination of the content and form of the constructed dialogue uncovered three recurring patterns that relate to its functions in the sessions: (1) inclusion of colloquial vocabulary; (2) references to common experiences through similes; and (3) explicit downplaying of pain. This analysis suggests that the naturally occurring phenomenon of quoting the words of others can be used in genetic counseling to impart information while simultaneously reassuring the client and creating counselor-client rapport. The complex relationship between the use of constructed dialogue and the enactment of genetic counseling principles through talk is also discussed.

  20. The art and design of genetic screens: mouse.

    Science.gov (United States)

    Kile, Benjamin T; Hilton, Douglas J

    2005-07-01

    Humans are mammals, not bacteria or plants, yeast or nematodes, insects or fish. Mice are also mammals, but unlike gorilla and goat, fox and ferret, giraffe and jackal, they are suited perfectly to the laboratory environment and genetic experimentation. In this review, we will summarize the tools, tricks and techniques for executing forward genetic screens in the mouse and argue that this approach is now accessible to most biologists, rather than being the sole domain of large national facilities and specialized genetics laboratories.

  1. Technical Update: Preimplantation Genetic Diagnosis and Screening.

    Science.gov (United States)

    Dahdouh, Elias M; Balayla, Jacques; Audibert, François; Wilson, R Douglas; Audibert, François; Brock, Jo-Ann; Campagnolo, Carla; Carroll, June; Chong, Karen; Gagnon, Alain; Johnson, Jo-Ann; MacDonald, William; Okun, Nanette; Pastuck, Melanie; Vallée-Pouliot, Karine

    2015-05-01

    Objectif : Mettre à jour et passer en revue les techniques et les indications du diagnostic génétique préimplantatoire et du dépistage génétique préimplantatoire. Options : Discussion au sujet des aspects techniques et génétiques des techniques génésiques préimplantatoires, particulièrement en ce qui concerne celles qui font appel aux nouvelles technologies cytogénétiques et à la biopsie au stade de l’embryon. Issues : Les issues cliniques obtenues par les techniques génésiques à la suite du recours au diagnostic génétique préimplantatoire et au dépistage génétique préimplantatoire sont incluses. La présente mise à jour ne traite pas en détail des issues indésirables qui ont été signalées en association avec les technologies de procréation assistée. Résultats : La littérature publiée a été récupérée par l’intermédiaire de recherches menées dans Medline et The Cochrane Library en avril 2014 au moyen d’un vocabulaire contrôlé (« aneuploidy », « blastocyst/physiology », « genetic diseases », « preimplantation diagnosis/methods », « fertilization in vitro ») et de mots clés (p. ex. « preimplantation genetic diagnosis », « preimplantation genetic screening », « comprehensive chromosome screening », « aCGH », « SNP microarray », « qPCR » et « embryo selection ») appropriés. Les résultats ont été restreints aux analyses systématiques, aux études observationnelles et aux essais comparatifs randomisés / essais cliniques comparatifs publiés en anglais entre 1990 et avril 2014. Aucune restriction n’a été imposée en matière de langue. Les recherches ont été mises à jour de façon régulière et intégrées à la directive clinique jusqu’en janvier 2015. Des publications additionnelles ont été identifiées à partir des bibliographies des articles récupérés. La littérature grise (non publiée) a été identifiée par l’intermédiaire de

  2. Big screens with small RNAs : loss of function genetic screens to identify novel cancer genes

    NARCIS (Netherlands)

    Mullenders, J.

    2009-01-01

    This thesis described the construction and screening of one of the first large scale RNAi libraries for use in human cells. Functional genetic screens with this library have led to the identification of novel cancer genes. These cancer genes function in several pathways including the p53 tumor suppr

  3. Pregnancy outcome after genetic counselling for prenatal diagnosis of unexpected chromosomal anomaly.

    Science.gov (United States)

    Clementi, Maurizio; Di Gianantonio, Elena; Ponchia, Rossella; Petrella, Marilena; Andrisani, Alessandra; Tenconi, Romano

    2006-01-01

    Couples undergoing invasive prenatal diagnosis (PD) are informed and concerned mainly about autosomal trisomies. However, unexpected chromosomal abnormalities (UCA) are a frequent finding at PD. We have analysed the psychological and practical consequences in the couples counselled in our centre because of the identification of foetal UCA at PD. The study was carried out on a sample of 52 couples referred for genetic counselling in the period 1997-2000. The couples underwent a structured interview and two self-report instruments to measure anxiety and psychological characteristics. The couples have been divided into three groups: (1) low risk - without or with negligible risk, (2) mild risk - with mild risk or mild clinical phenotype and (3) sex chromosome anomaly. All couples received the diagnosis of chromosomal anomaly from the obstetrician without any other comments and were referred to our service for genetic counselling. Most couples felt fear (11/17 in the LR group, 5/7 in the MR group and 12/21 in the SCA group), while sadness was lower frequently felt by those parents-to-be in the LR group. Our study suggests that a specific counselling that mentions the possibility of UCA is mandatory before PD, and the cost-benefit estimate of PD should take into account the psychological implications of UCA detection.

  4. 中国女性对于FMR1突变产前筛查的态度调查%Acceptance of prenatal screening for FMR1 mutation in Chinese female population

    Institute of Scientific and Technical Information of China (English)

    张岚; 章远志

    2012-01-01

    Objective Study the attitude of Chinese female population on prenatal screening of FXS in order to investigate the feasibility of offering prenatal screening.Methods Two hundred and eighty four women with no family history of mental retardation or FXS were recruited in the study.They were grouped into:females married with child (ren) (67/284),females married without child (54/284),unmarried single women (163/284).Then the participants were tested whether they retained the basic genetic knowledge of fragile X by using the adapted questionnaire.Results The proportions of the women who preferred to have prenatal screening for FXS in each group were 77.6%,66.7% and 74.9%.Further more,95.5% of the women in the first female group would like to terminate the pregnancy if a positive result of FXS was reported,so did 92.6% of the women in the second female group and 90.2% of women in the third female group.Conclusion There is a big acceptance of prenatal screening for FMR1 mutation in Chinese female population.Most people would like to take prenatal screening of fragile X syndrome.%目的 调查中国女性对于脆性X综合征产前筛查的态度.方法 随机调查284位没有智力发育障碍及脆性X综合征家族史的女性,分为已婚已育(67/284)、已婚未育(54/284)及未婚未育(163/284)三组.结果 各组愿意接受产前筛查的比率分别为77.6%、66.7%及74.9%.而各组选择在得知产前筛查结果阳性时愿意终止妊娠的比率分别为95.5%、92.6%及90.2%.结论 在中国女性群体中对FMR1基因突变进行产前筛查有较高的接受度.大多数人选择接受针对脆X综合征的产前筛查.

  5. Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening

    DEFF Research Database (Denmark)

    Miltoft, Caroline Borregaard; Wulff, Camilla B; Kjærgaard, Susanne

    2017-01-01

    INTRODUCTION: The aim was to investigate the parental decisions about prenatal screening and diagnosis among infants with trisomy 21 (T21) in a national cohort with high uptake of combined first-trimester screening (cFTS). MATERIAL AND METHODS: This was a nationwide population-based study including...... alive with T21. The cFTS risk was true-positive, false-negative or not obtained in 21.6, 48.0 and 30.4%, respectively, of these pregnancies. DISCUSSION: In this large national cohort, 4.4 per 10,000 live-born infants had T21. Of 102 infants with T21 from 2009 to 2012, 52.0% were born after the women had...

  6. Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling.

    Science.gov (United States)

    Godino, Lea; Pompilii, Eva; D'Anna, Federica; Morselli-Labate, Antonio M; Nardi, Elena; Seri, Marco; Rizzo, Nicola; Pilu, Gianluigi; Turchetti, Daniela

    2016-03-01

    Despite the increasing availability and effectiveness of non-invasive screening for foetal aneuploidies, most women of advanced maternal age (AMA) still opt for invasive tests. A retrospective cross-sectional survey was performed on women of AMA undergoing prenatal invasive procedures, in order to explore their motivations and the outcome of preliminary genetic counselling according to the approach (individual or group) adopted. Of 687 eligible women, 221 (32.2%) participated: 117 had received individual counselling, while 104 had attended group sessions. The two groups did not differ by socio-demographic features. The commonest reported reason to undergo invasive tests was AMA itself (67.4%), while only 10.4% of women mentioned the opportunity of making informed choices. The majority perceived as clear and helpful the information received at counselling, and only 12.7% had doubts left that, however, often concerned non-pertinent issues. The impact of counselling on risk perception and decisions was limited: a minority stated their perceived risk of foetal abnormalities had either increased (6.8%) or reduced (3.6%), and only one eventually declined invasive test. The 52.6% of women expressed a preference toward individual counselling, which also had a stronger impact on perceived risk reduction (P=0.003). Nevertheless, group counselling had a more favourable impact on both clarity of understanding and helpfulness (P=0.0497 and P=0.035, respectively). The idea that AMA represents an absolute indication for invasive tests appears deeply rooted; promotion of non-invasive techniques may require extensive educational efforts targeted to both the general population and health professionals.

  7. The Legal Past, Present and Future of Prenatal Genetic Testing: Professional Liability and Other Legal Challenges Affecting Patient Access to Services

    Directory of Open Access Journals (Sweden)

    Deborah Pergament

    2014-12-01

    Full Text Available This chapter is an overview of the current status of the law in the United States regarding prenatal genetic testing with an emphasis on issues related to professional liability and other challenges affecting patient access to prenatal genetic testing. The chapter discusses the roles that federal regulations, promulgated by the Centers for Medicare and Medicaid Services (CMS, the Food and Drug Administration (FDA and the Federal Trade Commission (FTC, play in the regulation of prenatal genetic tests. The chapter discusses tort litigation based on allegations of malpractice in the provision of prenatal genetic testing and how courts have analyzed issues related to causation, damages and mitigation of damages. The chapter provides reference information regarding how individual states address causes of action under the tort theories of wrongful birth and wrongful life. The chapter concludes with a discussion of future legal issues that may affect clinical prenatal genetic testing services arising from the continued expansion of prenatal genetic testing, legal restrictions on access to abortion and the potential development of embryonic treatments.

  8. The Legal Past, Present and Future of Prenatal Genetic Testing: Professional Liability and Other Legal Challenges Affecting Patient Access to Services.

    Science.gov (United States)

    Pergament, Deborah; Ilijic, Katie

    2014-12-15

    This chapter is an overview of the current status of the law in the United States regarding prenatal genetic testing with an emphasis on issues related to professional liability and other challenges affecting patient access to prenatal genetic testing. The chapter discusses the roles that federal regulations, promulgated by the Centers for Medicare and Medicaid Services (CMS), the Food and Drug Administration (FDA) and the Federal Trade Commission (FTC), play in the regulation of prenatal genetic tests. The chapter discusses tort litigation based on allegations of malpractice in the provision of prenatal genetic testing and how courts have analyzed issues related to causation, damages and mitigation of damages. The chapter provides reference information regarding how individual states address causes of action under the tort theories of wrongful birth and wrongful life. The chapter concludes with a discussion of future legal issues that may affect clinical prenatal genetic testing services arising from the continued expansion of prenatal genetic testing, legal restrictions on access to abortion and the potential development of embryonic treatments.

  9. Online direct-to-consumer messages about non-invasive prenatal genetic testing

    Directory of Open Access Journals (Sweden)

    Ruth M. Farrell

    2015-12-01

    Full Text Available Non-invasive prenatal testing (NIPT has been integrated into clinical care at a time when patients and healthcare providers increasingly utilize the internet to access health information. This study evaluated online direct-to-consumer information about NIPT produced by commercial laboratories accessible to both patients and healthcare providers. A coding checklist captured areas to describe content and assess concordance with clinical guidelines. We found that the information presented about NIPT is highly variable, both within a single website and broadly across all websites. Variability was noted in how NIPT is characterized, including test characteristics and indications. All laboratories offer NIPT to test for common sex chromosome aneuploidies, although there is a lack of consistency regarding the conditions offered and information provided about each. Although indicated for a subset of women at increased risk of aneuploidy, some laboratories describe the use of NIPT for all pregnant women. A subset of laboratories offers screening for microdeletions, although clinical practice guidelines do not yet recommend for general use for this indication. None of the online materials addressed the ethical issues associated with NIPT. This study highlights the need for clear, consistent, and evidence-based materials to educate patients and healthcare providers about the current and emerging applications of NIPT.

  10. 孕妇地中海贫血的产前筛选与诊断%Prenatal screen and diagnosis of thalassemia.

    Institute of Scientific and Technical Information of China (English)

    卢巧云; 徐婉芳

    2011-01-01

    目的 总结在我院进行产前体检者中开展地中海贫血的产前筛选与诊断结果.研究运用血红蛋白分析法进行孕妇产前筛选与诊断的意义.方法 对2 219对夫妇使用血红蛋白定量法结合基因分析,进行常规地中海贫血筛选.从中筛选出双方同为地中海贫血基因携带者的夫妇,建议其进行相关的产前诊断.对同意进行产前诊断的孕早期孕妇,采取其羊水或绒毛样本进行地中海贫血基因诊断;对同意进行产前诊断的孕中晚期孕妇,以B超下穿刺法抽取脐静脉血样进行地中海贫血基因诊断.结果 检查出夫妇一方为轻度α-地中海贫血基因携带者221例,检出率为4.98%;检查出夫妇一方为轻度β-地中海贫血基因携带者133例,检出率为3.00%.检查出双方均为地中海贫血基因携带者共13对,其中同意进行产前诊断的11例,诊断为中、重型地中海贫血胎儿5例.结论 开展孕妇地中海盆血的产前筛选与诊断,可尽早确诊中、重型地中海贫血胎儿,为家庭和社会减轻了负担与痛苦.%Objective To analyze the results of prenatal screen and diagnosis of thalassemia in 4438 pregnant women. Methods Quantitation of hemoglobin and thalassemia genetic analysis were used for screening thalassemia in 2219 couples. The couples carring thalassemia genes were suggested to take some related prenatal examinations. After permission, amniotic fluid or chorionic villi samples, and umbilical vein blood were collected from early and middle - late gestation respectively for the detection of thalassemia gene. Results Mild alpha - thalassemia gene carrier and mild beta - thalassemia gene carrier in one person of the couple were found in 221 cases ( 4.98% ) and 133 cases ( 3.00% ) respectively;thalassemia gene was found in both husband and wife in 13 couples. Of the 13 couples, 11 agreed to make prenatal diagnosis and 5 foetus of them were diagnosed as heavy thalassemia. Conclusion

  11. Genetic screening for Krabbe disease: learning from the past and looking to the future.

    Science.gov (United States)

    Macarov, Michal; Zlotogora, Joel; Meiner, Vardiella; Khatib, Zinab; Sury, Vivi; Mengistu, Getu; Bargal, Ruth; Shmueli, Esther; Meidan, Bela; Zeigler, Marsha

    2011-03-01

    In Israel, Krabbe disease is frequent in two Moslem Arab villages in the Jerusalem area. In this paper we present our experience of almost four decades with diagnosis of Krabbe disease, carrier screening and prenatal diagnosis. The screening program is well accepted by the community, and there is a clear trend towards premarital testing. The screening program and prenatal diagnosis have led to a decrease in the incidence of Krabbe disease from 1.6 per 1,000 live births to 0.82 per 1,000. Copyright © 2011 Wiley-Liss, Inc.

  12. Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the Netherlands.

    Science.gov (United States)

    van Rij, M C; de Die-Smulders, C E M; Bijlsma, E K; de Wert, G M W R; Geraedts, J P; Roos, R A C; Tibben, A

    2013-02-01

    Individuals at 50% risk of Huntington's disease (HD) who prefer not to know their carrier status, might opt for exclusion prenatal diagnosis (ePND) or exclusion preimplantation genetic diagnosis (ePGD). This study aims to provide a better understanding of couples' motives for choosing ePND or ePND, and surveys couples' experiences in order to make recommendations for the improvement of counselling for exclusion testing. This qualitative retrospective interview study focussed on couples who underwent ePND or ePGD for HD in the period 1996-2010. Seventeen couples were included of which 13 had experienced ePND and 6 ePGD. Mean time-interval since exclusion-testing was 3.9 years. Couples' moral reservations regarding termination of pregnancy (TOP) or discarding healthy embryos were counterbalanced by the wish to protect their future child against HD. Seven couples had terminated a total of 11 pregnancies with a 50% HD risk, none showed regret. ePGD was used by couples who wanted to avoid (another) TOP. ePND and ePGD are acceptable reproductive options for a specific group of counsellees. To guarantee sound standards of care, it is imperative that candidate couples be given in-depth non-directive counselling about all possible scenarios, and adequate professional and psychological support prior to, during and after ePND/ePGD.

  13. Does prenatal valproate interact with a genetic reduction in the serotonin transporter?A rat study on anxiety and cognition

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    Bart A Ellenbroek

    2016-09-01

    Full Text Available There is ample evidence that prenatal exposure to valproate (or valproic acid, VPA enhances the risk of developing Autism Spectrum Disorders (ASD. In line with this, a single injection of VPA induces a multitude of ASD-like symptoms in animals such as rats and mice. However, there is equally strong evidence that genetic factors contribute significantly to the risk of ASD and indeed, like most other psychiatric disorders, ASD is now generally thought to results from an interaction between genetic and environmental factors. Given that VPA significantly impacts on the serotonergic system, and serotonin has strong biochemical and genetic links to ASD, we aimed to investigate the interaction between genetic reduction in the serotonin transporter and prenatal valproate administration. More specifically, we exposed both wildtype (SERT+/+ rats and rats heterozygous for the serotonin transporter deletion (SERT+/- to a single injection of 400 mg/kg VPA at gestational day (GD 12. The offspring, in adulthood, was assessed in four different tests: Elevated Plus Maze and Novelty Suppressed Feeding as measures for anxiety and prepulse inhibition (PPI and latent inhibition as measures for cognition and information processing. The results show that prenatal VPA significantly increased anxiety in both paradigm, reduced PPI and reduced conditioning in the latent inhibition paradigm. However, we failed to find a significant gene – environment interaction. We propose that this may be related to the timing of the VPA injection and suggest that whereas GD12 might be optimal for affecting normal rat, rats with a genetically compromised serotonergic system may be more sensitive to VPA at earlier time points during gestation. Overall our data are the first to investigate gene * environmental interactions in a genetic rat model for ASD suggest that timing may be of crucial importance to the long-term outcome.

  14. Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000.

    Science.gov (United States)

    Creighton, S; Almqvist, E W; MacGregor, D; Fernandez, B; Hogg, H; Beis, J; Welch, J P; Riddell, C; Lokkesmoe, R; Khalifa, M; MacKenzie, J; Sajoo, A; Farrell, S; Robert, F; Shugar, A; Summers, A; Meschino, W; Allingham-Hawkins, D; Chiu, T; Hunter, A; Allanson, J; Hare, H; Schween, J; Collins, L; Sanders, S; Greenberg, C; Cardwell, S; Lemire, E; MacLeod, P; Hayden, M R

    2003-06-01

    Predictive and pre-natal testing for Huntington's Disease (HD) has been available since 1987. Initially this was offered by linkage analysis, which was surpassed by the advent of the direct mutation test for HD in 1993. Direct mutation analysis provided an accurate test that not only enhanced predictive and pre-natal testing, but also permitted the diagnostic testing of symptomatic individuals. The objective of this study was to investigate the uptake, utilization, and outcome of predictive, pre-natal and diagnostic testing in Canada from 1987 to April 1, 2000. A retrospective design was used; all Canadian medical genetics centres and their affiliated laboratories offering genetic testing for HD were invited to participate. A total of 15 of 22 centres (68.2%), currently offering or ever having offered genetic testing for HD, responded, providing data on test results, demographics, and clinical history. A total of 1061 predictive tests, 15 pre-natal tests, and 626 diagnostic tests were performed. The uptake for predictive testing was approximately 18% of the estimated at-risk Canadian population, ranging from 12.5% in the Maritimes to 20.7% in British Columbia. There appears to have been a decline in the rate of testing in recent years. Of the predictive tests, 45.0% of individuals were found to have an increased risk, and a preponderance of females (60.2%) sought testing. A greater proportion of those at testing once direct CAG mutation analysis had become available (10.9% after mutation analysis vs 4.7% before mutation analysis, p = 0.0077). Very few pre-natal tests were requested. Of the 15 pre-natal tests, 12 had an increased risk, resulting in termination of pregnancy in all but one. Diagnostic testing identified 68.5% of individuals to be positive by mutation analysis, while 31.5% of those with HD-like symptoms were not found to have the HD mutation. The positive diagnostic tests included 24.5% of individuals with no known prior family history of HD.

  15. Genetic dissection of mammalian ERAD through comparative haploid and CRISPR forward genetic screens

    DEFF Research Database (Denmark)

    Timms, Richard T.; Menzies, Sam A.; Tchasovnikarova, Iva A.;

    2016-01-01

    The application of forward genetic screens to cultured human cells represents a powerful method to study gene function. The repurposing of the bacterial CRISPR/Cas9 system provides an effective method to disrupt gene function in mammalian cells, and has been applied to genome-wide screens. Here, ...

  16. Trends in live birth prevalence of Down syndrome in the Northern Netherlands 1987-96 : the impact of screening and prenatal diagnosis

    NARCIS (Netherlands)

    Wortelboer, MJM; de Wolf, BTHM; Verschuuren-Bemelmans, CC; Reefhuis, J; Mantingh, A; Beekhuis, [No Value; Cornel, MC

    2000-01-01

    In the Northern Netherlands, we examined the live birth prevalence of Down syndrome (DS) and the impact of maternal serum screening (MSS) and prenatal cytogenetic diagnosis (PCD) during the period 1987-96. In this period the live birth prevalence, based on the maternal age distribution and the age s

  17. The impact of national prenatal screening on the time of diagnosis and outcome of pregnancies affected with common trisomies, a cohort study in the Northern Netherlands

    NARCIS (Netherlands)

    Bouman, Katelijne; Bakker, Marian K.; Birnie, Erwin; ter Beek, Lies; Bilardo, Caterina M.; van Langen, Irene M.; de Walle, Hermien E. K.

    2017-01-01

    Background: To evaluate the impact of the introduction of prenatal screening on time of detection and pregnancy outcome for trisomy 21 (T21), trisomy 18 (T18) and trisomy 13 (T13). Methods: We performed a retrospective, population-based cohort study in the Northern Netherlands including 503 trisomy

  18. Autism Spectrum Disorder Risk in Relation to Maternal Mid-Pregnancy Serum Hormone and Protein Markers from Prenatal Screening in California

    Science.gov (United States)

    Windham, Gayle C.; Lyall, Kristen; Anderson, Meredith; Kharrazi, Martin

    2016-01-01

    We examined prenatal screening markers and offspring autism spectrum disorder (ASD) using California statewide data on singleton births in 1996 and 2002. Second trimester levels of unconjugated estriol (uE3), human chorionic gonadotropin (hCG), and maternal serum alpha-fetoprotein (MSAFP) were compared between mothers of children with ASD…

  19. The impact of national prenatal screening on the time of diagnosis and outcome of pregnancies affected with common trisomies, a cohort study in the Northern Netherlands

    NARCIS (Netherlands)

    Bouman, Katelijne; Bakker, Marian K.; Birnie, Erwin; ter Beek, Lies; Bilardo, Caterina M.; van Langen, Irene M.; de Walle, Hermien E. K.

    2017-01-01

    Background: To evaluate the impact of the introduction of prenatal screening on time of detection and pregnancy outcome for trisomy 21 (T21), trisomy 18 (T18) and trisomy 13 (T13). Methods: We performed a retrospective, population-based cohort study in the Northern Netherlands including 503 trisomy

  20. Autism Spectrum Disorder Risk in Relation to Maternal Mid-Pregnancy Serum Hormone and Protein Markers from Prenatal Screening in California

    Science.gov (United States)

    Windham, Gayle C.; Lyall, Kristen; Anderson, Meredith; Kharrazi, Martin

    2016-01-01

    We examined prenatal screening markers and offspring autism spectrum disorder (ASD) using California statewide data on singleton births in 1996 and 2002. Second trimester levels of unconjugated estriol (uE3), human chorionic gonadotropin (hCG), and maternal serum alpha-fetoprotein (MSAFP) were compared between mothers of children with ASD…

  1. Trends in live birth prevalence of Down syndrome in the Northern Netherlands 1987-96 : the impact of screening and prenatal diagnosis

    NARCIS (Netherlands)

    Wortelboer, MJM; de Wolf, BTHM; Verschuuren-Bemelmans, CC; Reefhuis, J; Mantingh, A; Beekhuis, [No Value; Cornel, MC

    2000-01-01

    In the Northern Netherlands, we examined the live birth prevalence of Down syndrome (DS) and the impact of maternal serum screening (MSS) and prenatal cytogenetic diagnosis (PCD) during the period 1987-96. In this period the live birth prevalence, based on the maternal age distribution and the age s

  2. Coupled mutagenesis screens and genetic mapping in zebrafish.

    Science.gov (United States)

    Rawls, John F; Frieda, Matthew R; McAdow, Anthony R; Gross, Jason P; Clayton, Chad M; Heyen, Candy K; Johnson, Stephen L

    2003-01-01

    Forward genetic analysis is one of the principal advantages of the zebrafish model system. However, managing zebrafish mutant lines derived from mutagenesis screens and mapping the corresponding mutations and integrating them into the larger collection of mutations remain arduous tasks. To simplify and focus these endeavors, we developed an approach that facilitates the rapid mapping of new zebrafish mutations as they are generated through mutagenesis screens. We selected a minimal panel of 149 simple sequence length polymorphism markers for a first-pass genome scan in crosses involving C32 and SJD inbred lines. We also conducted a small chemical mutagenesis screen that identified several new mutations affecting zebrafish embryonic melanocyte development. Using our first-pass marker panel in bulked-segregant analysis, we were able to identify the genetic map positions of these mutations as they were isolated in our screen. Rapid mapping of the mutations facilitated stock management, helped direct allelism tests, and should accelerate identification of the affected genes. These results demonstrate the efficacy of coupling mutagenesis screens with genetic mapping. PMID:12663538

  3. Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.

    Science.gov (United States)

    Eggermann, Thomas; Brioude, Frédéric; Russo, Silvia; Lombardi, Maria P; Bliek, Jet; Maher, Eamonn R; Larizza, Lidia; Prawitt, Dirk; Netchine, Irène; Gonzales, Marie; Grønskov, Karen; Tümer, Zeynep; Monk, David; Mannens, Marcel; Chrzanowska, Krystyna; Walasek, Malgorzata K; Begemann, Matthias; Soellner, Lukas; Eggermann, Katja; Tenorio, Jair; Nevado, Julián; Moore, Gudrun E; Mackay, Deborah Jg; Temple, Karen; Gillessen-Kaesbach, Gabriele; Ogata, Tsutomu; Weksberg, Rosanna; Algar, Elizabeth; Lapunzina, Pablo

    2016-06-01

    Beckwith-Wiedemann and Silver-Russell syndromes (BWS/SRS) are two imprinting disorders (IDs) associated with disturbances of the 11p15.5 chromosomal region. In BWS, epimutations and genomic alterations within 11p15.5 are observed in >70% of patients, whereas in SRS they are observed in about 60% of the cases. In addition, 10% of the SRS patients carry a maternal uniparental disomy of chromosome 7 11p15.5. There is an increasing demand for prenatal testing of these disorders owing to family history, indicative prenatal ultrasound findings or aberrations involving chromosomes 7 and 11. The complex molecular findings underlying these disorders are a challenge not only for laboratories offering these tests but also for geneticists counseling affected families. The scope of counseling must consider the range of detectable disturbances and their origin, the lack of precise quantitative knowledge concerning the inheritance and recurrence risks for the epigenetic abnormalities, which are hallmarks of these developmental disorders. In this paper, experts in the field of BWS and SRS, including members of the European network of congenital IDs (EUCID.net; www.imprinting-disorders.eu), put together their experience and work in the field of 11p15.5-associated IDs with a focus on prenatal testing. Altogether, prenatal tests of 160 fetuses (122 referred for BWS, 38 for SRS testing) from 5 centers were analyzed and reviewed. We summarize the current knowledge on BWS and SRS with respect to diagnostic testing, the consequences for prenatal genetic testing and counseling and our cumulative experience in dealing with these disorders.

  4. Effectiveness of Bacterial Vaginosis Screening Program in Routine Prenatal Care and Its Effect on Decrease of Preterm Labor

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    Mehrnaz Mashoufi

    2012-09-01

    Full Text Available Background & Objectives : Bacterial vaginosis is a condition which is determined by changes in microbial ecosystem of vagina and is considered as a preventable risk factor for preterm delivery. This study was conducted to assess the effectiveness of bacterial vaginosis screening program in routine prenatal care and its effect on decreasing preterm labor.   Methods: This clinical trial study was conducted on 474 pregnant women at gestational stage between 2007 and 2008. The participants were randomly divided into 2 groups: intervention group and control group. Screening was performed in intervention group with Amsel's criteria (3 of 4 needed for diagnosis. Positive cases were given clindamycin cream (2% for one week. The outcome of the delivery was assessed in both groups afterward. Data were analyzed by SPSS11 software using descriptive statistics.   Results: There was no significant difference between two groups regarding pregnancy rank, wanted and unwanted pregnancy, insufficient weight gain, mother vaccination and complication of pregnancy. Bacterial vaginosis was observed in 17 out of 216 (8% in the intervention group and then treated. Prevalence of preterm delivery in the intervention and control groups were 3 (1.4% and 12 (4.7%, respectively. The relative risk was protective (RR: 0.3, DR: 0.033, NNT: 30.   Conclusion: Screening and treatment of bacterial vaginosis in pregnant women could significantly decrease the rate of preterm delivery.

  5. A Cost-Effectiveness Analysis of First Trimester Non-Invasive Prenatal Screening for Fetal Trisomies in the United States.

    Directory of Open Access Journals (Sweden)

    Brandon S Walker

    Full Text Available Non-invasive prenatal testing (NIPT is a relatively new technology for diagnosis of fetal aneuploidies. NIPT is more accurate than conventional maternal serum screening (MSS but is also more costly. Contingent NIPT may provide a cost-effective alternative to universal NIPT screening. Contingent screening used a two-stage process in which risk is assessed by MSS in the first stage and, based on a risk cutoff, high-risk pregnancies are referred for NIPT. The objective of this study was to (1 determine the optimum MSS risk cutoff for contingent NIPT and (2 compare the cost effectiveness of optimized contingent NIPT to universal NIPT and conventional MSS.Decision-analytic model using micro-simulation and probabilistic sensitivity analysis. We evaluated cost effectiveness from three perspectives: societal, governmental, and payer.From a societal perspective, universal NIPT dominated both contingent NIPT and MSS. From a government and payer perspective, contingent NIPT dominated MSS. Compared to contingent NIPT, adopting a universal NIPT would cost $203,088 for each additional case detected from a government perspective and $263,922 for each additional case detected from a payer perspective.From a societal perspective, universal NIPT is a cost-effective alternative to MSS and contingent NIPT. When viewed from narrower perspectives, contingent NIPT is less costly than universal NIPT and provides a cost-effective alternative to MSS.

  6. A cost-effectiveness analysis comparing different strategies to implement noninvasive prenatal testing into a Down syndrome screening program.

    Science.gov (United States)

    Ayres, Alice C; Whitty, Jennifer A; Ellwood, David A

    2014-10-01

    Currently, noninvasive prenatal testing (NIPT) is only recommended in high-risk women following conventional Down syndrome (DS) screening, and it has not yet been included in the Australian DS screening program. To evaluate the cost-effectiveness of different strategies of NIPT for DS screening in comparison with current practice. A decision-analytic approach modelled a theoretical cohort of 300,000 singleton pregnancies. The strategies compared were the following: current practice, NIPT as a second-tier investigation, NIPT only in women >35 years, NIPT only in women >40 years and NIPT for all women. The direct costs (low and high estimates) were derived using both health system costs and patient out-of-pocket expenses. The number of DS cases detected and procedure-related losses (PRL) were compared between strategies. The incremental cost per case detected was the primary measure of cost-effectiveness. Universal NIPT costs an additional $134,636,832 compared with current practice, but detects 123 more DS cases (at an incremental cost of $1,094,608 per case) and avoids 90 PRL. NIPT for women >40 years was the most cost-effective strategy, costing an incremental $81,199 per additional DS case detected and avoiding 95 PRL. The cost of NIPT needs to decrease significantly if it is to replace current practice on a purely cost-effectiveness basis. However, it may be beneficial to use NIPT as first-line screening in selected high-risk patients. Further evaluation is needed to consider the longer-term costs and benefits of screening. © 2014 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  7. Coeliac disease and autoimmune disease-genetic overlap and screening.

    Science.gov (United States)

    Lundin, Knut E A; Wijmenga, Cisca

    2015-09-01

    Coeliac disease is a treatable, gluten-induced disease that often occurs concurrently with other autoimmune diseases. In genetic studies since 2007, a partial genetic overlap between these diseases has been revealed and further insights into the pathophysiology of coeliac disease and autoimmunity have been gained. However, genetic screening is not sensitive and specific enough to accurately predict disease development. The current method to diagnose individuals with coeliac disease is serological testing for the presence of autoantibodies whilst the patient is on a regular, gluten-containing diet, followed by gastroduodenoscopy with duodenal biopsy. Serological test results can also predict the probability of coeliac disease development, even if asymptomatic. In patients with autoimmune diseases known to occur alongside coeliac disease (particularly type 1 diabetes mellitus or thyroid disorders), disease screening-and subsequent treatment if coeliac disease is detected-could have beneficial effects on progression or potential complications of both diseases, owing to the effectiveness of gluten-free dietary interventions in coeliac disease. However, whether diagnosis of coeliac disease and subsequent dietary treatment can prevent autoimmune diseases is debated. In this Review, the genetic and immunological features of coeliac disease, overlap with other autoimmune diseases and implications for current screening strategies will be discussed.

  8. A comprehensive platform for highly multiplexed mammalian functional genetic screens

    Directory of Open Access Journals (Sweden)

    Cheung-Ong Kahlin

    2011-05-01

    Full Text Available Abstract Background Genome-wide screening in human and mouse cells using RNA interference and open reading frame over-expression libraries is rapidly becoming a viable experimental approach for many research labs. There are a variety of gene expression modulation libraries commercially available, however, detailed and validated protocols as well as the reagents necessary for deconvolving genome-scale gene screens using these libraries are lacking. As a solution, we designed a comprehensive platform for highly multiplexed functional genetic screens in human, mouse and yeast cells using popular, commercially available gene modulation libraries. The Gene Modulation Array Platform (GMAP is a single microarray-based detection solution for deconvolution of loss and gain-of-function pooled screens. Results Experiments with specially constructed lentiviral-based plasmid pools containing ~78,000 shRNAs demonstrated that the GMAP is capable of deconvolving genome-wide shRNA "dropout" screens. Further experiments with a larger, ~90,000 shRNA pool demonstrate that equivalent results are obtained from plasmid pools and from genomic DNA derived from lentivirus infected cells. Parallel testing of large shRNA pools using GMAP and next-generation sequencing methods revealed that the two methods provide valid and complementary approaches to deconvolution of genome-wide shRNA screens. Additional experiments demonstrated that GMAP is equivalent to similar microarray-based products when used for deconvolution of open reading frame over-expression screens. Conclusion Herein, we demonstrate four major applications for the GMAP resource, including deconvolution of pooled RNAi screens in cells with at least 90,000 distinct shRNAs. We also provide detailed methodologies for pooled shRNA screen readout using GMAP and compare next-generation sequencing to GMAP (i.e. microarray based deconvolution methods.

  9. Replacing Alpha-Fetoprotein With Alpha-Fetoprotein-L3 Increases the Sensitivity of Prenatal Screening for Trisomy 21.

    Science.gov (United States)

    Huai, Lei; Leng, Jianhang; Ma, Shenglin; Huang, Fang; Shen, Junya; Ding, Yu

    This study aimed to investigate the serum concentration of alpha-fetoprotein (AFP)-L3 in midterm pregnancies and its potential application in prenatal trisomy screening. The serum samples from 27 women with trisomy 21 fetuses and 800 women with normal fetuses were examined to measure the concentrations of AFP, AFP-L3, human chorionic gonadotropin (hCG), unconjugated estriol (uE3), and inhibin-A. The screening results of various tests consisting of these markers were analyzed. In normal pregnancies within 15-20 weeks of gestation, the medians of serum AFP-L3 were 4.63, 5.70, 5.78, 6.58, 7.03, and 7.25 pg/mL. The median of AFP-L3 MoM in the trisomy 21 group was 0.46, which was significantly lower than the value of 1 in the normal group (P < 0.05). When using a cutoff value of 1/270, the sensitivity of the triple marker test (AFP, hCG, uE3) was improved from 74% to 81% by replacing AFP with AFP-L3, with the false-positive rate slightly increased from 5.4% to 6.8%. Similarly, the sensitivity of the quad marker test (AFP, hCG, uE3, inhibin-A) was improved from 81% to 89% by replacing AFP with AFP-L3, with the false-positive rate slightly increased from 4.6% to 5.6%. Serum AFP-L3 concentration increases along with more weeks of gestation in the midterm pregnancies. Trisomy 21 screening tests with AFP replaced by AFP-L3 have higher sensitivities at the expense of slightly increased false-positive rates. This improvement in screening may help to better prepare the parents and caregivers for the special needs of newborns with trisomy 21.

  10. Combination of hearing screening and genetic screening for deafness-susceptibility genes in newborns.

    Science.gov (United States)

    Yao, Gen-Dong; Li, Shou-Xia; Chen, Ding-Li; Feng, Hai-Qin; Zhao, Su-Bin; Liu, Yong-Jie; Guo, Li-Li; Yang, Zhi-Ming; Zhang, Xiao-Fang; Sun, Cai-Xia; Wang, Ze-Hui; Zhang, Wei-Yong

    2014-01-01

    The aim of this study was to determine the clinical significance of the results of screening of newborn hearing and the incidence of deafness-susceptibility genes. One thousand newborn babies in the Handan Center Hospital (Handan, China) underwent screening of hearing and deafness-susceptibility genes. The first screening test was carried out using otoacoustic emissions (OAEs). Babies with hearing loss who failed to pass the initial screening were scheduled for rescreening at 42 days after birth. Cord blood was used for the screening of deafness-susceptibility genes, namely the GJB2, SLC26A4 and mitochondrial 12S rRNA (MTRNR1) genes. Among the 1,000 neonates that underwent the first hearing screening, 25 exhibited left-sided hearing loss, 21 exhibited right-sided hearing loss and 15 cases had binaural hearing loss. After rescreening 42 days later, only one of the initial 61 cases exhibited hearing loss under OAE testing. The neonatal deafness gene tests showed two cases with 1555A>G mutation and two cases with 1494C>T mutation of the MTRNR1 gene. In the SLC26A4 gene screening, four cases exhibited the heterozygous IVS7-2A>G mutation and one case exhibited heterozygous 1226G>A mutation. In the GJB2 gene screening, two cases exhibited the homozygous 427C>T mutation and 10 exhibited the heterozygous 235delC mutation. The genetic screening revealed 21 newborns with mutations in the three deafness-susceptibility genes. The overall carrier rate was 2.1% (21/1,000). The association of hearing and gene screening may be the promising screening strategy for the diagnosis of hearing loss.

  11. The role of experiential knowledge within attitudes towards genetic carrier screening: A comparison of people with and without experience of spinal muscular atrophy.

    Science.gov (United States)

    Boardman, Felicity K; Young, Philip J; Warren, Oliver; Griffiths, Frances E

    2017-07-13

    Autosomal recessive conditions, while individually rare, are a significant health burden with limited treatment options. Population carrier screening has been suggested as a means of tackling them. Little is known, however, about the attitudes of the general public towards such carrier screening and still less about the views of people living with candidate genetic diseases. Here, we focus on the role that such experience has on screening attitudes by comparing views towards screening of people with and without prior experience of the monogenetic disorder, Spinal Muscular Atrophy. An exploratory sequential mixed methods design was adopted. In-depth qualitative interviews were used to develop two surveys. The surveys addressed attitudes towards carrier screening (pre-conceptual and prenatal) for SMA. 337 participants with SMA experience completed the SMA Screening Survey (UK) and 336 participants with no prior experience of SMA completed the UK GenPop Survey, an amended version of the SMA Screening Survey (UK). The majority of both cohorts were in favour of pre-conception and prenatal carrier screening, however people with experience of type II SMA were least likely to support either. Key differences emerged around perceptions of SMA, with those without SMA experience taking a dimmer view of the condition than those with. This study underscores the significance of prior experience with the condition to screening attitudes. It highlights the need for accurate and high-quality educational resources to support any future carrier screening programmes, that particularly in relation to rare genetic disorders like SMA that will fall outside the remit of everyday experience for the majority of the population. © 2017 The Authors Health Expectations Published by John Wiley & Sons Ltd.

  12. Abnormal plasma DNA profiles in early ovarian cancer using a non-invasive prenatal testing platform: implications for cancer screening.

    Science.gov (United States)

    Cohen, Paul A; Flowers, Nicola; Tong, Stephen; Hannan, Natalie; Pertile, Mark D; Hui, Lisa

    2016-08-24

    Non-invasive prenatal testing (NIPT) identifies fetal aneuploidy by sequencing cell-free DNA in the maternal plasma. Pre-symptomatic maternal malignancies have been incidentally detected during NIPT based on abnormal genomic profiles. This low coverage sequencing approach could have potential for ovarian cancer screening in the non-pregnant population. Our objective was to investigate whether plasma DNA sequencing with a clinical whole genome NIPT platform can detect early- and late-stage high-grade serous ovarian carcinomas (HGSOC). This is a case control study of prospectively-collected biobank samples comprising preoperative plasma from 32 women with HGSOC (16 'early cancer' (FIGO I-II) and 16 'advanced cancer' (FIGO III-IV)) and 32 benign controls. Plasma DNA from cases and controls were sequenced using a commercial NIPT platform and chromosome dosage measured. Sequencing data were blindly analyzed with two methods: (1) Subchromosomal changes were called using an open source algorithm WISECONDOR (WIthin-SamplE COpy Number aberration DetectOR). Genomic gains or losses ≥ 15 Mb were prespecified as "screen positive" calls, and mapped to recurrent copy number variations reported in an ovarian cancer genome atlas. (2) Selected whole chromosome gains or losses were reported using the routine NIPT pipeline for fetal aneuploidy. We detected 13/32 cancer cases using the subchromosomal analysis (sensitivity 40.6 %, 95 % CI, 23.7-59.4 %), including 6/16 early and 7/16 advanced HGSOC cases. Two of 32 benign controls had subchromosomal gains ≥ 15 Mb (specificity 93.8 %, 95 % CI, 79.2-99.2 %). Twelve of the 13 true positive cancer cases exhibited specific recurrent changes reported in HGSOC tumors. The NIPT pipeline resulted in one "monosomy 18" call from the cancer group, and two "monosomy X" calls in the controls. Low coverage plasma DNA sequencing used for prenatal testing detected 40.6 % of all HGSOC, including 38 % of early stage cases. Our

  13. Feasibility Study on Prenatal Cardiac Screening Using Four-Dimensional Ultrasound with Spatiotemporal Image Correlation: A Multicenter Study.

    Directory of Open Access Journals (Sweden)

    Liqing Zhao

    Full Text Available This study aimed at investigating the feasibility of using the spatiotemporal image correlation (STIC technology for prenatal cardiac screening, finding factors that influence the offline evaluation of reconstructed fetal heart, and establishing an optimal acquisition scheme.The study included 452 gravidae presenting for routine screening at 3 maternity centers at 20-38 gestational weeks. The factors influencing the quality of STIC volume data were evaluated using t test, chi-square test, and logistic regression analysis. The predictive power was evaluated using the receiver operating characteristic (ROC curve.Among the 452 fetuses enrolled, 353 (78.1% were identified as successful and 99 (21.9% as failure of evaluation of the reconstructed fetal heart. The total success rate of qualified STIC images was 78.1%. The display rates of reconstructed cardiac views were 86.5% (four-chamber view, 92.5% (left ventricular outflow tract view, 92.7% (right ventricular outflow tract view, 89.9% (three-vessel trachea view, 63.9% (aortic arch view, 81.4% (ductal arch view, 81% (short-axis view of great vessels, 80.1% (long-cava view, and 86.9% (abdominal view. A logistic regression analysis showed that more than 28 gestational weeks [OR = 0.39 (CI 95% 0.16, 0.19, P = 0.035], frequent fetal movements [OR = 0.37 (CI 95% 0.16, 0.87, P = 0.022], shadowing [OR = 0.36 (CI 95% 0.19, 0.72, P = 0.004], spine location at 10-2 o'clock [OR = 0.08 (CI 95% 0.02, 0.27, P = 0.0], and original cardiac view [OR = 0.51 (0.25, 0.89, P = 0.019] had a significant impact on the quality of STIC. The area under the ROC curve was 0.775.Fetal cardiac-STIC seems a feasible tool for prenatal screening of congenital heart diseases. The influence factors on the quality of STIC images included the intensity of training, gestational age, fetal conditions and parameter settings. The optimal acquisition scheme may improve the application and widespread use of cardiac STIC.

  14. Low utilization of prenatal and pre-implantation genetic diagnosis in Huntington disease - risk discounting in preventive genetics.

    Science.gov (United States)

    Schulman, J D; Stern, H J

    2015-09-01

    Huntington disease (HD) is a late-onset, fatal neurodegenerative disorder caused by a (CAG) triplet repeat expansion in the Huntingtin gene that enlarges during male meiosis. In 1996 in this journal, one of us (J. D. S.) presented a methodology to perform pre-implantation genetic diagnosis in families at-risk for HD without revealing the genetic status of the at-risk parent. Despite the introduction of accurate prenatal and pre-implantation genetic testing which can prevent transmission of the abnormal HD gene in the family permanently, utilization of these options is extremely low. In this article, we examine the decision-making process regarding genetic testing in families with HD and discuss the possible reasons for the low uptake among this group.

  15. Genetic screening for infertility: When should it be done?

    Directory of Open Access Journals (Sweden)

    Elda Kara

    2010-07-01

    Primary amenorrhea should be investigated by karyotype analysis and selected mutation screening according to the patient's clinical features. Karyotype analyses and FMR1 gene screening is recommended in cases of POF. At present the infertility of patients with POF cannot be restored if the diagnosis is made after complete follicular depletion, but in some cases, early diagnosis by genetic investigation may instead lead to the advice of early conception or oocyte harvesting and preservation. In addition, the accumulation and annotation of array comparative genomic hybridization data might, in the near future, lead to the identification of pathogenetic copy number variations and genes involved in POF. Karyotype analysis of both partners is recommended in all couples with recurrent pregnancy loss. No routine genetic test can be recommended so far in patients with PCOS.

  16. 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...... regarding prenatal detection rate and accuracy, as well as correlation with nuchal translucency (NT) thickness. RESULTS: Out of 86 121 infants, 831 were born with CHD (0.96%). The prenatal detection rate of 'all CHD' was 21.3%, of 'Major CHD' 47.4%. Full agreement between prenatal and postnatal....../autopsy findings was found in 96% of prenatally detected diagnoses. An NT thickness >95(th) percentile was found in 15.0% fetuses with 'Major CHD'. Of 'Major CHDs' detected prenatally, 77% were picked up at the time of the malformation scan at weeks 18-21. CONCLUSIONS: Nearly half of 'Major CHDs' were detected...

  17. Routine prenatal screening for congenital heart disease: what can be expected? A decision-analytic approach

    NARCIS (Netherlands)

    E. Buskens (Erik); E.W. Steyerberg (Ewout); J. Hess (Jakob); J.W. Wladimiroff (Juriy); D.E. Grobbee (Diederick)

    1997-01-01

    textabstractOBJECTIVES: This study assessed the potential impact of fetal ultrasound screening on the number of newborns affected by cardiac anomalies. METHODS: A decision model was developed that included the prevalence and history of congenital heart disease, characte

  18. Routine prenatal screening for congenital heart disease: what can be expected? A decision-analytic approach

    NARCIS (Netherlands)

    E. Buskens (Erik); E.W. Steyerberg (Ewout); J. Hess (Jakob); J.W. Wladimiroff (Juriy); D.E. Grobbee (Diederick)

    1997-01-01

    textabstractOBJECTIVES: This study assessed the potential impact of fetal ultrasound screening on the number of newborns affected by cardiac anomalies. METHODS: A decision model was developed that included the prevalence and history of congenital heart disease, characte

  19. Forward genetic screen for auxin-deficient mutants by cytokinin.

    Science.gov (United States)

    Wu, Lei; Luo, Pan; Di, Dong-Wei; Wang, Li; Wang, Ming; Lu, Cheng-Kai; Wei, Shao-Dong; Zhang, Li; Zhang, Tian-Zi; Amakorová, Petra; Strnad, Miroslav; Novák, Ondřej; Guo, Guang-Qin

    2015-07-06

    Identification of mutants with impairments in auxin biosynthesis and dynamics by forward genetic screening is hindered by the complexity, redundancy and necessity of the pathways involved. Furthermore, although a few auxin-deficient mutants have been recently identified by screening for altered responses to shade, ethylene, N-1-naphthylphthalamic acid (NPA) or cytokinin (CK), there is still a lack of robust markers for systematically isolating such mutants. We hypothesized that a potentially suitable phenotypic marker is root curling induced by CK, as observed in the auxin biosynthesis mutant CK-induced root curling 1 / tryptophan aminotransferase of Arabidopsis 1 (ckrc1/taa1). Phenotypic observations, genetic analyses and biochemical complementation tests of Arabidopsis seedlings displaying the trait in large-scale genetic screens showed that it can facilitate isolation of mutants with perturbations in auxin biosynthesis, transport and signaling. However, unlike transport/signaling mutants, the curled (or wavy) root phenotypes of auxin-deficient mutants were significantly induced by CKs and could be rescued by exogenous auxins. Mutants allelic to several known auxin biosynthesis mutants were re-isolated, but several new classes of auxin-deficient mutants were also isolated. The findings show that CK-induced root curling provides an effective marker for discovering genes involved in auxin biosynthesis or homeostasis.

  20. Role of thalassemia screening in prevention and control of thalassemia - a 5 year experience

    OpenAIRE

    Suman Lata Mendiratta; Meenakshi Mittal; Farha Naaz; Sompal Singh; Smriti Anand

    2016-01-01

    Background: Thalassemia is a commonest genetic blood disorder in India which can be prevented by antenatal screening and prenatal diagnosis. Aim of the study was to screen antenatal women and their spouses to detect and ldquo;couples at risk and rdquo; of thalassemia major births and offering them genetic counseling and option of prenatal diagnosis thereby preventing the birth of thalassemia major babies. Methods: Thalassemia screening for antenatal women was done by NESTROFT test and RBC...

  1. Prenatal diagnosis of spinal muscular atrophy in Chinese by genetic analysis of fetal cells

    Institute of Scientific and Technical Information of China (English)

    WU Ting; DING Xin-sheng; LI Wen-lei; YAO Juan; DENG Xiao-xuan

    2005-01-01

    Background Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of anterior horn cells of the spinal cord.The survival motor neuron gene is SMA-determining gene deleted in approximately 95% of SMA patients.This study was undertaken to predict prenatal SMA efficiently and rapidly in families with previously affected child.Methods Prenatal diagnosis was made in 8 fetuses with a family history of SMA.Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used for the detection of the survival motor neuron gene.Results The survival motor neuron gene was not found in 6 fetuses, ruling out the diagnosis of SMA.Two fetuses were detected positive and the pregnancies were terminated.Conclusion Our method is effective and convenient in prenatal diagnosis of SMA.

  2. Genetic liability, prenatal health, stress and family environment: risk factors in the Harvard Adolescent Family High Risk for schizophrenia study.

    Science.gov (United States)

    Walder, Deborah J; Faraone, Stephen V; Glatt, Stephen J; Tsuang, Ming T; Seidman, Larry J

    2014-08-01

    The familial ("genetic") high-risk (FHR) paradigm enables assessment of individuals at risk for schizophrenia based on a positive family history of schizophrenia in first-degree, biological relatives. This strategy presumes genetic transmission of abnormal traits given high heritability of the illness. It is plausible, however, that adverse environmental factors are also transmitted in these families. Few studies have evaluated both biological and environmental factors within a FHR study of adolescents. We conceptualize four precursors to psychosis pathogenesis: two biological (genetic predisposition, prenatal health issues (PHIs)) and two environmental (family environment, stressful life events (SLEs)). Participants assessed between 1998 and 2007 (ages 13-25) included 40 (20F/20M) adolescents at FHR for schizophrenia (FHRs) and 55 (31F/24M) community controls. 'Genetic load' indexed number of affected family members relative to pedigree size. PHI was significantly greater among FHRs, and family cohesion and expressiveness were less (and family conflict was higher) among FHRs; however, groups did not significantly differ in SLE indices. Among FHRs, genetic liability was significantly associated with PHI and family expressiveness. Prenatal and family environmental disruptions are elevated in families with a first-degree relative with schizophrenia. Findings support our proposed 'polygenic neurodevelopmental diathesis-stress model' whereby psychosis susceptibility (and resilience) involves the independent and synergistic confluence of (temporally-sensitive) biological and environmental factors across development. Recognition of biological and social environmental influences across critical developmental periods points to key issues relevant for enhanced identification of psychosis susceptibility, facilitation of more precise models of illness risk, and development of novel prevention strategies. Copyright © 2014 Elsevier B.V. All rights reserved.

  3. Is prenatal screening for Down syndrome needed in young pregnant women?

    Directory of Open Access Journals (Sweden)

    Rekha S. Dhamnaskar

    2016-12-01

    Conclusions: It can be concluded that the triple marker test is indeed only a screening test for the DS and that it has to be confirmed with the help of chromosomal analysis. The higher maternal age is an important parameter in DS but nowadays, even ones with a lower maternal age can also have a child with DS. So, in general, now all women are recommended to go for biochemical screening during their pregnancy. [Int J Res Med Sci 2016; 4(12.000: 5393-5398

  4. Prenatal diagnosis of gonosomal anomalies: limitations of the FISH method and genetic counseling difficulties in 15 cases.

    Science.gov (United States)

    Braha, Elena; Martiniuc, Violeta; Panzaru, Monica; Caba, Lavinia; Butnariu, Lăcrămioara; Onofriescu, M; Socolov, Demetra; Grigore, Mihaela; Nemescu, D; Mihălceanu, Elena; Iliev, G; Gorduza, E V

    2013-01-01

    Prenatal diagnosis (PD) by FISH or cell culture is today an important tool for the prevention of chromosomal anomalies. A difficult issue is prenatal detection of gonosomal anomalies. Most gonosomal anomalies neither affect life expectancy nor cause psychomotor retardation, but sexualization disorders and the lack of reproductive potential are a constant finding. This study aimed at identifying the medical problems the specialists and the parental couple are faced with at the time of the diagnosis of fetal gonosomal anomalies. This retrospective study (2004-2012) was conducted in the Prenatal Genetic Diagnosis Department of "CuzaVoda" Maternity by FISH technique in 1685 pregnancies. The AneuVysion probes were used for identifying and enumerating chromosomes 13, 18, 21, X, and Y via fluorescence in situ hybridization (FISH) in interphase nuclei obtained from amniotic fluid. Fifteen fetuses were selected in which we were faced with difficulties interpreting the number of gonosomes: monosomy X (5 cases), pseudomosaicism XX/XY (3), trisomy XXY (3 cases), trisomy XYY (1 case), 45,X/46.XX mosaicism (1 case) and triploidy XXX (2 cases). Later, by repeating the analysis, 2 cases with pseudomosaicism XX/XY were excluded. A case highlighting the limitations of the FISH test was that of a fetus in which the FISH test revealed trisomy XXY, while postnatal karyotyping showed a six cell line mosaicism (marker and ring X chromosomes). All parental couples received nondirective genetic counseling, respecting the individuals' dignity and rights of self-determination. Parents received information on the natural course of the disease, treatment options, and psychological support and were involved in their child's recovery.

  5. Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening.

    Science.gov (United States)

    Miltoft, Caroline Borregaard; Wulff, Camilla B; Kjærgaard, Susanne; Ekelund, Charlotte K; Tabor, Ann

    2017-01-01

    The aim was to investigate the parental decisions about prenatal screening and diagnosis among infants with trisomy 21 (T21) in a national cohort with high uptake of combined first-trimester screening (cFTS). This was a nationwide population-based study including infants born in 2009-2012. Information from the cFTS, fetal karyotype results and pregnancy outcome was obtained from the Danish Fetal Medicine Database on all women with a cFTS risk assessment. Cut-off for referral for invasive testing was ≥1:300. Karyotype results from pregnancies with no cFTS were obtained from the Danish Cytogenetic Central Registry. The uptake rate of cFTS was 91.6%, and 82.8% (8,032/9,704) of the screen-positive women opted for invasive testing. Overall, 82.2% (454/552) chose to terminate an affected pregnancy. In the 4-year period, 102 of 232,962 singletons were born alive with T21. The cFTS risk was true-positive, false-negative or not obtained in 21.6, 48.0 and 30.4%, respectively, of these pregnancies. In this large national cohort, 4.4 per 10,000 live-born infants had T21. Of 102 infants with T21 from 2009 to 2012, 52.0% were born after the women had not opted for cFTS or were true-positive but declined invasive testing or termination, and 48.0% were born after a false-negative risk assessment. © 2016 S. Karger AG, Basel.

  6. Prenatal genetic counseling: future parents prefer to make decisions together, using professional advice.

    NARCIS (Netherlands)

    Martin, L.; Dulmen, S. van; Spelten, E.; Hutton, E.

    2012-01-01

    OBJECTIVES: Counseling about prenatal testing for congenital abnormalities has become an increasing part of obstetric care in the Netherlands (Wiegers and Hingstman, 2008). During the past decade many changes have taken place in medical-technical and social-cultural areas as well as in health care p

  7. Prenatal genetic counseling: future parents prefer to make decisions together, using professional advice.

    NARCIS (Netherlands)

    Martin, L.; Dulmen, S. van; Spelten, E.; Hutton, E.

    2012-01-01

    OBJECTIVES: Counseling about prenatal testing for congenital abnormalities has become an increasing part of obstetric care in the Netherlands (Wiegers and Hingstman, 2008). During the past decade many changes have taken place in medical-technical and social-cultural areas as well as in health care

  8. Amniocentesis for the detection of congenital toxoplasmosis: results from the nationwide Austrian prenatal screening program.

    Science.gov (United States)

    Prusa, A-R; Kasper, D C; Pollak, A; Olischar, M; Gleiss, A; Hayde, M

    2015-02-01

    Prenatal diagnosis of congenital toxoplasmosis (CT) influences therapeutical management in pregnant women and their offspring. In Austria, a nationwide serological healthcare program to identify potential maternal toxoplasma infections during pregnancy exists. We assessed the clinical use of amniocentesis for toxoplasma-specific polymerase chain reaction (PCR) on amniotic fluid to detect CT. Data on serology, amniocentesis, PCR, complications, treatment, and paediatric clinical outcome were collected retrospectively among the birth cohort 1992-2008. There were 1386 women with amniocentesis, but only in 707 cases (51%) was acute maternal infection confirmed serologically. A high proportion (49%) of amniocenteses with negative PCR results in women with chronic infection or seronegativity were performed without clinical justification for the women or their foetuses. The positive and negative predictive values of PCR were 94.4% and 99.3%, respectively. Thirty-nine foetuses with CT, including four deaths, were reported. The five PCR-negative but infected infants were identified by the serological and clinical follow-up program. Thirty percent of amniocenteses were performed in the third trimester, and gestational age or treatment did not influence PCR sensitivity. Amniocentesis is indicated in women with acute maternal infection, and facilitated targeted therapies in pregnant women and their offspring. In women with late toxoplasma infection, negative amniotic fluid PCR made treatment of infants unnecessary. Serological and clinical follow-up of infants is important to confirm the infection status of the infant. Recommendations, based on our 17-year experience, to improve the current diagnostic strategies and to reduce unnecessary amniocentesis, are given.

  9. MeDIP Real-Time qPCR has the Potential for Noninvasive Prenatal Screening of Fetal Trisomy 21.

    Science.gov (United States)

    Kazemi, Mohammad; Salehi, Mansoor; Kheirollahi, Majid

    2017-01-01

    This study aimed to verify the reliability of the 7 tissue differentially methylated regions used in the methylated DNA immunoprecipitation (MeDIP) real- time quantitative polymerase chain reaction (real-time qPCR) based approach of fetal DNA in maternal blood to diagnosis of fetal trisomy 21. Forty pregnant women with high risk pregnancy who were referred after first or second trimester screening tests, were selected randomly. For each sample whole DNA extraction (mother and fetus), fragmentation of DNA, immunoprecipitation of methylated DNA and real- time qPCR using 7 primer pairs was performed. D-value for each sample was calculated using the following formula D = -4.908+ 0.254 XEP1+ 0.409 XEP4+ 0.793 XEP5+ 0.324 XEP6+ 0.505 XEP7+ 0.508 XEP9+ 0.691 XEP12. In all normal cases, D value was negative, while it was positive in all trisomy cases. Therefore, all normal and trisomy 21 cases were classified correctly which correspond to 100% specificity and 100% sensitivity for this method. The MeDIP real-time qPCR method has provided the opportunity for noninvasive prenatal diagnosis of fetal trisomy 21 to be potentially employed into the routine practice of diagnostic laboratories.

  10. Prenatal Screening for Chromosomal Abnormalities in Tabriz, North-West of Iran

    Directory of Open Access Journals (Sweden)

    Zahra Fardyazar

    2013-09-01

    Full Text Available Background: Several studies have indicated that when compared to non-consanguinous marriage, consanguinous marriage may lead to a higher incidence of congenital abnormalities. The study was performed to evaluate few screening tests to estimate the risk of chromosomal abnormalities in the first trimester compared between familial and non-familial marriages. Materials and Methods: In this cross sectional study, 300 pregnant women with singleton pregnancy presenting to Tabriz Al-Zahra hospital from 2007 to 2009 were enrolled as study population. The participants were evaluated about chromosomal malformations using a combination of NT (Nuchal Translucency, PAPP-A (Pregnancy-Associated Plasma Protein A, and free beta- human chorionic gonadotropin (β-hCG. In positive screening test results, the participants underwent fetal karyotyping using amniocentesis or chorionic villi sampling (CVS.Results: Pregnancies with higher risk were observed more among non-consanguineous marriages. The maternal age was not found to be a determinant in this regard. NT and free β-hCG values (but not PAPP-A were significantly different between the two study groups. The triple screening test had a sensitivity of 100%. There were two cases of Down syndrome both belonging to the maternal age less than 35 years and non-consanguineous marriages.Conclusion: Considering that a statistically significant association was not observed between abnormal test results and pregnancy complications (p=0.73, it seems that it is essential to use screening tests in all pregnant women. Especially that the only two pregnancies with Down syndrome in our study were under 35 years of age.

  11. Cost effectiveness, the economic considerations of prenatal screening strategies for trisomy 21 in the Czech Republic.

    Science.gov (United States)

    Dhaifalah, I; Májek, O

    2012-02-01

    To perform an incremental cost-effectiveness analysis for screening of trisomy 21 (Down syndrome) in the Czech Republic through a decision tree model designed to evaluate the costs and potential risks involved in using different strategies of screening. METHODS AND DATA ANALYSIS: Using decision-analysis modelling, we compared the cost-effectiveness of nine possible screening strategies for trisomy 21: 1. maternal age > or = 35 in first trimester, 2. maternal age > or = 35 in second trimester, 3. second trimester triple test (AFP, hCG, mu E3), 4. nuchal translucency measurement, 5. first trimester serum test (PAPP-A, fbeta-hCG), 6. first trimester combined (nuchal translucency, PAPP-A, fbeta-hCG) not in OSCAR manner, 7. first trimester combined (nuchal translucency, PAPP-A, fbeta-hCG) in OSCAR manner, 8. first trimester combined (nuchal translucency, nasal bone, PAPP-A, fbeta-hCG) not in OSCAR manner, 9. first trimester combined (nuchal translucency, nasal bone, PAPP-A, fbeta-hCG) in OSCAR manner. The analysis is performed from a health care payer perspective using relevant cost and outcomes related to each screening strategy in a cohort of 118,135 pregnant women presenting around 12 weeks of pregnancy in the Czech Republic. Using a computer spreadsheet Excel (Microsoft Corporation, Redmond, Wash) the following outcomes: overall cost-effectiveness, trisomy 21 cases detected, trisomy 21 live birth prevented and euploid losses from invasive procedures were obtained. The incremental cost-effectiveness ratios were also calculated by a comparison of strategy nine and strategy three (the current practice in the Czech Republic). Under the baseline assumptions, the model favors strategy nine as the most cost-effective trisomy 21 screening strategy. This strategy was the least expensive strategy per trisomy 21 cases averted. Although all the other strategies cost less, they all had lower trisomy 21 detection rates and higher numbers of procedure-related losses (except for

  12. Mosaic small supernumerary marker chromosome 1 at amniocentesis: prenatal diagnosis, molecular genetic analysis and literature review.

    Science.gov (United States)

    Chen, Chih-Ping; Chen, Ming; Su, Yi-Ning; Huang, Jian-Pei; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Chang, Shun-Ping; Chen, Yu-Ting; Lee, Chen-Chi; Chen, Li-Feng; Pan, Chen-Wen; Wang, Wayseen

    2013-10-15

    We present prenatal diagnosis and molecular cytogenetic analysis of mosaic small supernumerary marker chromosome 1 [sSMC(1)]. We review the literature of sSMC(1) at amniocentesis and chromosome 1p21.1-p12 duplication syndrome. We discuss the genotype-phenotype correlation of the involved genes of ALX3, RBM15, NTNG1, SLC25A24, GPSM2, TBX15 and NOTCH2 in this case.

  13. Pooled-matrix protein interaction screens using Barcode Fusion Genetics.

    Science.gov (United States)

    Yachie, Nozomu; Petsalaki, Evangelia; Mellor, Joseph C; Weile, Jochen; Jacob, Yves; Verby, Marta; Ozturk, Sedide B; Li, Siyang; Cote, Atina G; Mosca, Roberto; Knapp, Jennifer J; Ko, Minjeong; Yu, Analyn; Gebbia, Marinella; Sahni, Nidhi; Yi, Song; Tyagi, Tanya; Sheykhkarimli, Dayag; Roth, Jonathan F; Wong, Cassandra; Musa, Louai; Snider, Jamie; Liu, Yi-Chun; Yu, Haiyuan; Braun, Pascal; Stagljar, Igor; Hao, Tong; Calderwood, Michael A; Pelletier, Laurence; Aloy, Patrick; Hill, David E; Vidal, Marc; Roth, Frederick P

    2016-04-22

    High-throughput binary protein interaction mapping is continuing to extend our understanding of cellular function and disease mechanisms. However, we remain one or two orders of magnitude away from a complete interaction map for humans and other major model organisms. Completion will require screening at substantially larger scales with many complementary assays, requiring further efficiency gains in proteome-scale interaction mapping. Here, we report Barcode Fusion Genetics-Yeast Two-Hybrid (BFG-Y2H), by which a full matrix of protein pairs can be screened in a single multiplexed strain pool. BFG-Y2H uses Cre recombination to fuse DNA barcodes from distinct plasmids, generating chimeric protein-pair barcodes that can be quantified via next-generation sequencing. We applied BFG-Y2H to four different matrices ranging in scale from ~25 K to 2.5 M protein pairs. The results show that BFG-Y2H increases the efficiency of protein matrix screening, with quality that is on par with state-of-the-art Y2H methods.

  14. Prenatal diagnosis of Cantrell pentalogy in first trimester screening: case report and review of literature

    Science.gov (United States)

    Ergenoğlu, Mete Ahmet; Yeniel, A. Özgür; Peker, Nuri; Kazandı, Mert; Akercan, Fuat; Sağol, Sermet

    2012-01-01

    Pentalogy of Cantrell is a heterogeneous and rare thoraco-abdominal wall closure defect with the estimated prevalence of 1/65.000 to 1/200.000 births. Supraumbilical midline wall defect (generally omphalocele), deficiency of the anterior diaphragm and diaphragmatic peritoneum, defect of the lower sternum and several intracardiac defects are the components of Cantrell pentalogy. Etiology is unknown but a defect on the lateral mesoderm during the early stage of pregnancy is the most accepted hypothesis. Nowadays both 2- dimensional (2D) and 3-dimensional (3D) sonography are commonly used in diagnosis. In our case, a fetus with 11 weeks of gestation was reported as Cantrell pentalogy during first trimester screening. Additionally, unilateral limb defect and lumbar lordoscoliosis were detected through 3D sonography. Pregnancy was terminated according to parental desire. Karyotype was 46 XY. Early diagnosis is feasible in the first trimester if ectopia cordis and omphalocele exist. Additionally, development in ultrasound technology provides us with better visualization and early diagnosis. Prognosis seems to be poor in patients with complete Cantrell syndrome and patients with associated anomalies. Termination is the choice of treatment. Early diagnosis gives us a chance to reduce maternal morbidity and mortality related to termination. PMID:24592026

  15. Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening

    DEFF Research Database (Denmark)

    Boyle, B; Morris, J K; McConkey, R

    2014-01-01

    OBJECTIVE: To determine risk of Down syndrome (DS) in multiple relative to singleton pregnancies, and compare prenatal diagnosis rates and pregnancy outcome. DESIGN: Population-based prevalence study based on EUROCAT congenital anomaly registries. SETTING: Eight European countries. POPULATION: 14...

  16. Applying theological developments to bioethical issues such as genetic screening.

    Science.gov (United States)

    Mallia, Pierre; ten Have, Henk

    2005-01-01

    Catholic movements within the centre of Roman Catholic doctrine recently have discussed Trinitarian theology as applied to sciences, arts, economics, health and other social areas. We explore the possibilities Trinitarian theology offers to bioethical debate, concentrating particularly on genetic screening and testing. It is important therefore to analyse the philosophical implications of this approach onto the bioethical world, where much disagreement occurs on fundamental issues. It is Catholic basic teaching to recognize and see God's hand in plurality, not merely as a cliche and then doing what we feel is right, but to recognize how to live in a pluralistic world. We recognize, in agreement with these theologians, that in order for a Trinitarian mode of understanding to be used by those doing bioethical debate, there is a need to depart from fundamentalism.

  17. Prenatal Testing: Is It Right for You?

    Science.gov (United States)

    Healthy Lifestyle Pregnancy week by week Prenatal testing, including screening and diagnostic tests, can provide valuable information about your baby's ... 2015 Original article: http://www.mayoclinic.org/healthy-lifestyle/pregnancy-week-by-week/in-depth/prenatal-testing/art- ...

  18. Genome-wide genetic screening with chemically mutagenized haploid embryonic stem cells

    OpenAIRE

    Forment, Josep V.; Herzog, Mareike; Coates, Julia; Konopka, Tomasz; Gapp, Bianca V.; Nijman, Sebastian M.; Adams, David J; Keane, Thomas M.; Jackson, Stephen P.

    2016-01-01

    This is the author accepted manuscript. In model organisms, classical genetic screening via random mutagenesis provides key insights into the molecular bases of genetic interactions, helping to define synthetic lethality, synthetic viability and drug-resistance mechanisms. The limited genetic tractability of diploid mammalian cells, however, precludes this approach. Here, we demonstrate the feasibility of classical genetic screening in mammalian systems by using haploid cells, chemical mut...

  19. Prenatal screening, diagnosis, and pregnancy management of fetal neural tube defects.

    Science.gov (United States)

    Wilson, R Douglas; Wilson, R Douglas; Audibert, Francois; Brock, Jo-Ann; Campagnolo, Carla; Carroll, June; Cartier, Lola; Chitayat, David; Gagnon, Alain; Johnson, Jo-Ann; Langlois, Sylvie; MacDonald, W Kim; Murphy-Kaulbeck, Lynn; Okun, Nanette; Pastuck, Melanie; Popa, Vanessa

    2014-10-01

    Objectif : Fournir, aux professionnels de la santé des domaines de l’obstétrique et de la génétique, des lignes directrices et des recommandations en ce qui a trait au dépistage / diagnostic prénatal et à la prise en charge obstétricale du dysraphisme spinal ouvert / fermé (DSOF) chez le fœtus. Options : La présente analyse englobe les techniques de dépistage / diagnostic prénatal qui sont actuellement utilisées aux fins de la détection du DSOF, y compris le dépistage des concentrations sériques en alphafoetoprotéines chez la mère, l’échographie, l’imagerie par résonance magnétique visant le fœtus et l’amniocentèse. Issues : Améliorer le dépistage / diagnostic prénatal et la prise en charge obstétricale du DSOF, tout en prenant en considération les soins offerts à la patiente, l’efficacité, les coûts et les interventions de soins. Résultats : La littérature publiée a été récupérée par l’intermédiaire de recherches menées dans PubMed ou MEDLINE, CINAHL et The Cochrane Library en novembre 2013 au moyen d’un vocabulaire contrôlé et de mots clés appropriés (p. ex. « prenatal screening », « congenital anomalies », « neural tube defects », « alpha-fetoprotein », « ultrasound scan », « magnetic resonance imaging »). Les résultats ont été restreints aux analyses systématiques, aux essais comparatifs randomisés / essais cliniques comparatifs et aux études observationnelles publiés en anglais entre 1977 et 2012. Les recherches ont été mises à jour de façon régulière et ont été intégrées à la directive clinique jusqu’au 30 novembre 2013. La littérature grise (non publiée) a été identifiée par l’intermédiaire de recherches menées dans les sites Web d’organismes s’intéressant à l’évaluation des technologies dans le domaine de la santé et d’organismes connexes, dans des collections de directives cliniques, dans des registres d

  20. Clinical experience with single‐nucleotide polymorphism‐based non‐invasive prenatal screening for 22q11.2 deletion syndrome

    OpenAIRE

    Gross, S. J.; Stosic, M.; McDonald‐McGinn, D. M.; Bassett, A.S.; Norvez, A.; Dhamankar, R.; Kobara, K.; Kirkizlar, E.; Zimmermann, B.; Wayham, N.; Babiarz, J. E.; Ryan, A; Jinnett, K. N.; Demko, Z.; Benn, P.

    2016-01-01

    ABSTRACT Objectives To evaluate the performance of a single‐nucleotide polymorphism (SNP)‐based non‐invasive prenatal test (NIPT) for the detection of fetal 22q11.2 deletion syndrome in clinical practice, assess clinical follow‐up and review patient choices for women with high‐risk results. Methods In this study, 21 948 samples were submitted for screening for 22q11.2 deletion syndrome using a SNP‐based NIPT and subsequently evaluated. Follow‐up was conducted for all cases with a high‐risk re...

  1. Sensory Processing in Rhesus Monkeys: Developmental Continuity, Prenatal Treatment, and Genetic Influences.

    Science.gov (United States)

    Schneider, Mary L; Moore, Colleen F; Adkins, Miriam; Barr, Christina S; Larson, Julie A; Resch, Leslie M; Roberts, Andrew

    2017-01-01

    Neonatal sensory processing (tactile and vestibular function) was tested in 78 rhesus macaques from two experiments. At ages 4-5 years, striatal dopamine D2 receptor binding was examined using positron emission tomography. At ages 5-7 years, adult sensory processing was assessed. Findings were: (a) prenatal stress exposure yielded less optimal neonatal sensory processing; (b) animals carrying the short rh5-HTTLPR allele had less optimal neonatal sensory scores than monkeys homozygous for the long allele; (c) neonatal sensory processing was significantly related to striatal D2 receptor binding for carriers of the short allele, but not for animals homozygous for the long allele; and (d) there was moderate developmental continuity in sensory processing from the neonatal period to adulthood.

  2. 孕中期产前筛查的价值%Value of prenatal screening during the second trimester of pregnancy

    Institute of Scientific and Technical Information of China (English)

    左振伟; 杜焕青; 白洁; 侯灵彤

    2012-01-01

    目的:探讨产前筛查在孕中期产前诊断中的价值.方法:2006年1月~ 2009年9月对2 880例孕16~20周的妇女行产前筛查,检测其血清中甲胎蛋白(AFP)、游离β绒毛膜促性腺激素(F-βHCG)和游离雌三醇(μE3)浓度,结合年龄、体重等因素,评定危险系数.高危孕妇进行羊膜腔穿刺,羊水细胞染色体核型检查以确诊.结果:共有2 880例孕妇接受筛查.其中筛出唐氏综合征(DS)高风险5例,经羊水细胞染色体核型分析确诊2例;18-三体高风险2例,确诊1例:神经管缺陷(NTD)高风险2例,确诊2例.所有筛查孕妇均随访至胎儿出生,1例筛查阴性的孕妇分娩唐氏儿.结论:产前筛查可提高先天缺陷儿的检出率,是提高出生人口素质的有效技术措施.%Objective; To explore the value of prenatal screening in prenatal diagnosis of women during the second trimester of pregnancy. Methods; A total of 2 880 women during 16 -20 gestational weeks received prenatal screening from January 2006 to September 2009, the serum levels of alpha fetoprotein (AFP) , free human ($ gonadotropin (F - pHCG) , and free estriol were detected, the risk index was evaluated combined with other factors, such as age and body weight. The high risk pregnant women underwent anmiocentesis, then they were diagnosed definitely by chromosomal karyotype test of amniotic fluid cells. Results ? A total of 2 880 pregnant women received prenatal screening, five pregnant women were found with high risk of Downs syndrome, after chromosomal karyotype test of amniotic fluid cells, two pregnant women were diagnosed definitely; two pregnant women were found with high risk of trisomy 18, after chromosomal karyotype test of amniotic fluid cells, one pregnant woman was diagnosed definitely; two pregnant women were found with high risk of neural tube defect, after chromosomal karyotype test of amniotic fluid cells, two pregnant women were diagnosed definitely. All the pregnant women were

  3. Bibliometic analysis on the prenatal screening and diagnosis of Down' s syndrome in China%国内唐氏综合征产前筛查及诊断研究文献计量分析

    Institute of Scientific and Technical Information of China (English)

    陈云香; 王书平; 王坤; 惠文; 李雪; 吴华章

    2013-01-01

    目的 系统分析国内关于唐氏综合征产前筛查和产前诊断研究的文献,为制定适合我国国情的产前筛查方案提供参考.方法 以“唐氏综合征”或“DS”、“产前筛查”和“产前诊断”为主题词,对中国期刊全文专题数据库等的文献进行检索,检索年限为1987-2012年.并对符合纳入标准的文献进行数据提取和统计分析.结果 检索到符合纳入标准的文献90篇.统计分析结果显示我国产前筛查的策略主要是孕中期的血清学二联筛查,产前诊断的取样方法主要是羊膜腔穿刺,诊断方法主要为染色体核型分析.结论 选择合适的筛查策略及截断值是目前产前筛查的重要研究方向,增加筛查指标及采用孕早期联合筛查将是我国未来产前筛查的趋势.%Objective To systematically analyze the domestic articles about prenatal screening and diagnosis of down's syndrome and provide basis for formulating new prenatal screening plan suitable for current conditions in China. Methods We searched the full text databases of China with subject terms containing "down's syndrome"/ "DS", " prenatal screening" and "prenatal diagnosis" and defining the published year between 1987 and 2012. After that, the data from the articles meeting the criteria was extracted and analyzed statistically. Results Totally 90 articles were included in the study. Statistical analysis showed that the strategy of prenatal screening in China is mainly in the second-trimester with serological double marker screening, prenatal diagnosis sampling method is mainly amniocentesis(AC), diagnosis methods mainly the analysis of the chromosome karyotypes. Conclusions Choosing appropriate screening strategies and truncation value are currently important research directions of prenatal screening, increasing the screening indexes and screening in the first-trimester will be the trend of prenatal screening in the future in China.

  4. The current state of genetic counseling before and after amniocentesis for fetal karyotyping in Japan: a survey of obstetric hospital clients of a prenatal testing laboratory.

    Science.gov (United States)

    Nishiyama, Miyuki; Sawai, Hideaki; Kosugi, Shinji

    2013-12-01

    Pregnant women undergoing prenatal genetic testing should receive genetic counseling so they can make informed decisions. We examined the current state of providing genetic counseling in Japan to pregnant women before they elected amniocentesis for prenatal diagnosis of chromosome abnormalities and after test results were completed, and explored the opportunity for expanding access to certified genetic counselors (CGC) at clinical practices offering amniocentesis. An anonymous survey was mailed to the 298 hospitals that referred amniotic fluid specimens to LabCorp Japan in 2009. Most genetic counseling was provided by the obstetrician alone; 73.8 % (76/103) of pre-amniocentesis, 82.5 % (85/103) if normal results, and 49.4 % (44/89) if abnormal results. Respondents spent limited time in genetic counseling; 57.3 % spent amniocentesis, 88.3 % spent <10 min for normal results, and 54.0 % spent <20 min for abnormal results. While 45.8 % indicated that CGC do not have an essential role in clinical practice, responses that supported employment of CGC were more likely to come from hospitals that submitted more than ten specimens annually (p < 0.0001), university hospitals (p < 0.0001), and MD geneticists (p = 0.020). Currently, there is limited genetic counseling available in Japan. This indicates there are opportunities for the employment of CGC to improve the quality of genetic counseling.

  5. Rapid genetic diagnosis and prenatal diagnosis of spinal muscular atrophy by denaturing high-performance liquid chromatography

    Institute of Scientific and Technical Information of China (English)

    ZHU Hai-yan; WU Ling-qian; PAN Qian; TANG Bei-sha; LIANG De-sheng; LONG Zhi-gao; DAI He-ping; XIA Kun; XIA Jia-hui

    2006-01-01

    @@ Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder1 (1in 6000 to 10 000 births) caused by mutations in the SMN1 gene at 5q13. More than 90%-98% of SMA patients show homozygous deletion of SMN1,2which has proved to be useful in the diagnosis of SMA. But it is hampered because of the existence of a highly homologous gene, SMN2.3 Based on nucleotide mismatches between SMN1 and SMN2,the following two DNA tests are usually performed:single-strand conformational polymorphism (SSCP)3and polymerase chain reaction (PCR) followed by a restriction enzyme digestion.4,5 In this study we developed a new method for rapid genetic diagnosis of SMA by denaturing high-performance liquid chromatography (DHPLC), which is based on different retention of homoduplexes and heteroduplexes in detecting the homozygous deletion of SMN1. Both genetic and prenatal diagnoses were performed successfully for a SMA family by DHPLC, which was confirmed as a rapid and effective technique for detecting the deletion of SMN1.

  6. Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors.

    Science.gov (United States)

    Bennett, Robin L; Motulsky, Arno G; Bittles, Alan; Hudgins, Louanne; Uhrich, Stefanie; Doyle, Debra Lochner; Silvey, Kerry; Scott, C Ronald; Cheng, Edith; McGillivray, Barbara; Steiner, Robert D; Olson, Debra

    2002-04-01

    The objective of this document is to provide recommendations for genetic counseling and screening for consanguineous couples (related as second cousins or closer) and their offspring with the goals of1. providing preconception reproductive options2. improving pregnancy outcome and identifying reproductive choices3. reducing morbidity and mortality in the 1st years of life, and4. respecting psychosocial and multicultural issues.The recommendations are the opinions of a multicenter working group (the Consanguinity Working Group (CWG)) with expertise in genetic counseling, medical genetics, biochemical genetics, genetic epidemiology, pediatrics, perinatology, and public health genetics, which was convened by the National Society of Genetic Counselors (NSGC). The consensus of the CWG and NSGC reviewers is that beyond a thorough medical family history with follow-up of significant findings, no additional preconception screening is recommended for consanguineous couples. Consanguineous couples should be offered similar genetic screening as suggested for any couple of their ethnic group. During pregnancy, consanguineous couples should be offered maternal-fetal serum marker screening and high-resolution fetal ultrasonography. Newborns should be screened for impaired hearing and detection of treatable inborn errors of metabolism. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.

  7. Infant outcomes among women with Zika virus infection during pregnancy: results of a large prenatal Zika screening program.

    Science.gov (United States)

    Adhikari, Emily H; Nelson, David B; Johnson, Kathryn A; Jacobs, Sara; Rogers, Vanessa L; Roberts, Scott W; Sexton, Taylor; McIntire, Donald D; Casey, Brian M

    2017-03-01

    Zika virus infection during pregnancy is a known cause of congenital microcephaly and other neurologic morbidities. We present the results of a large-scale prenatal screening program in place at a single-center health care system since March 14, 2016. Our aims were to report the baseline prevalence of travel-associated Zika infection in our pregnant population, determine travel characteristics of women with evidence of Zika infection, and evaluate maternal and neonatal outcomes compared to women without evidence of Zika infection. This is a prospective, observational study of prenatal Zika virus screening in our health care system. We screened all pregnant women for recent travel to a Zika-affected area, and the serum was tested for those considered at risk for infection. We compared maternal demographic and travel characteristics and perinatal outcomes among women with positive and negative Zika virus tests during pregnancy. Comprehensive neurologic evaluation was performed on all infants delivered of women with evidence of possible Zika virus infection during pregnancy. Head circumference percentiles by gestational age were compared for infants delivered of women with positive and negative Zika virus test results. From March 14 through Oct. 1, 2016, a total of 14,161 pregnant women were screened for travel to a Zika-affected country. A total of 610 (4.3%) women reported travel, and test results were available in 547. Of these, evidence of possible Zika virus infection was found in 29 (5.3%). In our population, the prevalence of asymptomatic or symptomatic Zika virus infection among pregnant women was 2/1000. Women with evidence of Zika virus infection were more likely to have traveled from Central or South America (97% vs 12%, P Zika virus infection. Additionally, there was no difference in mean head circumference of infants born to women with positive vs negative Zika virus testing. No microcephalic infants born to women with Zika infection were identified

  8. Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

    NARCIS (Netherlands)

    Bayindir, Baran; Dehaspe, Luc; Brison, Nathalie; Brady, Paul; Ardui, Simon; Kammoun, Molka; van der Veken, Lars; Lichtenbelt, Klaske; van den Bogaert, Kris; van Houdt, Jeroen; Peeters, Hilde; van Esch, Hilde; de Ravel, Thomy; Legius, Eric; Devriendt, Koen; Vermeesch, Joris R.

    2015-01-01

    Noninvasive prenatal testing by massive parallel sequencing of maternal plasma DNA has rapidly been adopted as a mainstream method for detection of fetal trisomy 21, 18 and 13. Despite the relative high accuracy of current NIPT testing, a substantial number of false-positive and false-negative test

  9. Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.

    Science.gov (United States)

    Wilson, R Douglas; De Bie, Isabelle; Armour, Christine M; Brown, Richard N; Campagnolo, Carla; Carroll, June C; Okun, Nan; Nelson, Tanya; Zwingerman, Rhonda; Audibert, Francois; Brock, Jo-Ann; Brown, Richard N; Campagnolo, Carla; Carroll, June C; De Bie, Isabelle; Johnson, Jo-Ann; Okun, Nan; Pastruck, Melanie; Vallée-Pouliot, Karine; Wilson, R Douglas; Zwingerman, Rhonda; Armour, Christine; Chitayat, David; De Bie, Isabelle; Fernandez, Sara; Kim, Raymond; Lavoie, Josee; Leonard, Norma; Nelson, Tanya; Taylor, Sherry; Van Allen, Margot; Van Karnebeek, Clara

    2016-08-01

    This guideline was written to update Canadian maternity care and reproductive healthcare providers on pre- and postconceptional reproductive carrier screening for women or couples who may be at risk of being carriers for autosomal recessive (AR), autosomal dominant (AD), or X-linked (XL) conditions, with risk of transmission to the fetus. Four previous SOGC- Canadian College of Medical Geneticists (CCMG) guidelines are updated and merged into the current document. All maternity care (most responsible health provider [MRHP]) and paediatric providers; maternity nursing; nurse practitioner; provincial maternity care administrator; medical student; and postgraduate resident year 1-7. Fertile, sexually active females and their fertile, sexually active male partners who are either planning a pregnancy or are pregnant (preferably in the first trimester of pregnancy, but any gestational age is acceptable). Women and their partners will be able to obtain appropriate genetic carrier screening information and possible diagnosis of AR, AD, or XL disorders (preferably pre-conception), thereby allowing an informed choice regarding genetic carrier screening and reproductive options (e.g., prenatal diagnosis, preimplantation genetic diagnosis, egg or sperm donation, or adoption). Informed reproductive decisions related to genetic carrier screening and reproductive outcomes based on family history, ethnic background, past obstetrical history, known carrier status, or genetic diagnosis. SOGC REPRODUCTIVE CARRIER SCREENING SUMMARY STATEMENT (2016): Pre-conception or prenatal education and counselling for reproductive carrier screening requires a discussion about testing within the three perinatal genetic carrier screening/diagnosis time periods, which include pre-conception, prenatal, and neonatal for conditions currently being screened for and diagnosed. This new information should be added to the standard reproductive carrier screening protocols that are already being utilized by

  10. Screening for fetal aneuploidy and neural tube defects.

    Science.gov (United States)

    Driscoll, Deborah A; Gross, Susan J

    2009-11-01

    Maternal serum screening for neural tube defects and fetal aneuploidy in the second trimester has been incorporated into obstetrical practice over the past two decades. Now, as a result of several multicenter trials, first trimester screening between 11 and 14 weeks has been shown to be an effective and reliable screening test for Down syndrome and trisomy 18. This policy updates the American College of Medical Genetics policy statement entitled Second Trimester Maternal Serum Screening for Fetal Open Neural Tube Defects and Aneuploidy (2004), incorporates First trimester diagnosis and screening for fetal aneuploidy (2008) and complements the sections of American College of Medical Genetic's Standards and Guidelines for Clinical Genetics Laboratories entitled Prenatal Screening for Down syndrome (2005) and Prenatal Screening for Open Neural Tube Defects (2005).

  11. Exploring the Effectiveness of Mandatory Premarital Screening and Genetic Counselling Programmes for β-Thalassaemia in the Middle East: A Scoping Review.

    Science.gov (United States)

    Saffi, Marwa; Howard, Natasha

    2015-01-01

    β-Thalassaemia is a common genetic blood disorder in the Middle Eastern region. Mandatory premarital screening and genetic counselling (PMSGC) programmes are implemented in 8 Middle East countries to reduce at-risk marriages and thus disease prevalence. A scoping review was conducted to explore the effectiveness of these programmes. The 6-stage scoping framework of Arksey and O'Malley [Int J Soc Res Methodol 2005;8:19-32] was used. Reported outcomes were analysed per country, with success defined as achieving a 65% reduction in at-risk marriages and/or thalassaemia-affected births. Emergent enablers and barriers were analysed thematically. Twenty-one sources were included from the 1,348 identified, discussing 7 country programmes, with 95% (20/21) published during 2003-2013. Five publications each were included for Iran and Saudi Arabia, 3 for Turkey, 2 each for Bahrain and Iraq (Kurdistan), and 1 for the United Arab Emirates, plus 2 multi-country evaluations. No programme achieved a 65% at-risk marriage cancellation rate. Though data on thalassaemia-affected birth reductions were minimal, programmes in Iran, Turkey and Iraq reported at least 65% reductions. A thematic analysis found that screening timing, access to prenatal detection and abortion, socio-religious issues, awareness and counselling affected decisions. This review found that PMSGC programmes were unsuccessful in discouraging at-risk marriages but successful in reducing the prevalence of affected births in countries providing prenatal detection and therapeutic abortion. A life cycle approach to prevention, incorporation of school screening, awareness campaigns, reconsideration of therapeutic abortion, and screening and counselling of couples married prior to programme inception are likely to improve the effectiveness of such programmes in the Middle Eastern region. © 2015 S. Karger AG, Basel.

  12. Coping with worry while waiting for diagnostic results: a qualitative study of the experiences of pregnant couples following a high-risk prenatal screening result.

    Science.gov (United States)

    Lou, Stina; Nielsen, Camilla P; Hvidman, Lone; Petersen, Olav B; Risør, Mette B

    2016-10-21

    It is well documented that pregnant women experience increased worry and uncertainty following a high-risk prenatal screening result. While waiting for diagnostic results this worry continues to linger. It has been suggested that high-risk women put the pregnancy mentally 'on hold' during this period, however, not enough is known about how high-risk women and their partners cope while waiting for diagnostic results. The aim of this study was to identify the strategies employed to cope with worry and uncertainty. Qualitative, semi-structured interviews with 16 high-risk couples who underwent diagnostic testing. The couples were recruited at a university hospital fetal medicine unit in Denmark. Data were analysed using thematic analysis. All couples reported feeling worried and sad upon receiving a high-risk screening result. While waiting for diagnostic results, the couples focused on coming to their own understanding of the situation and employed both social withdrawal and social engagement as strategies to prevent worry from escalating. Additionally, couples used gratitude, reassuring reasoning and selective memory as means to maintain hopes for a good outcome. Discussions about what to do in case of an abnormal test result were notably absent in the accounts of waiting. This bracketing of the potential abnormal result allowed the couples to hold on to a 'normal' pregnancy and to employ an 'innocent-till-proven-guilty' approach to their worries about the fetus's health. None of the interviewed couples regretted having prenatal screening and all of them expected to have prenatal screening in a future pregnancy. The couples in this study did not put the pregnancy mentally 'on hold'. Worry and uncertainty must be understood as managed through a diverse range of practical and emotional strategies that change and overlap in the process of waiting. Clinicians may support appropriate ways of coping with worry and waiting through empathetic and empowering clinical

  13. Genetic basis, nutritional challenges and adaptive responses in the prenatal origin of obesity and type-2 diabetes.

    Science.gov (United States)

    Gonzalez-Bulnes, Antonio; Ovilo, Cristina

    2012-03-01

    Obesity and type-2 diabetes are currently considered global pandemics. A large set of epidemiological evidences are addressing both the importance of a genetic predisposition -starting with the thrifty genotype hypothesis- and the determinant role of the maternal nutrition during pregnancy -starting with longitudinal studies of individuals born during the Dutch famine- on the adult onset of the disease. Compelling evidences suggest that both over- and undernutrition may modify the intrauterine environment of the conceptus and may alter the expression of its genome, predisposing to disease in the adult life. However, the most recent data indicate that the consequences of this phenomenon, termed as prenatal programming, are influenced both by timing, degree and duration of the challenge and by the adaptive response of the mother and the conceptus; thus, the information acquired by interventional studies modifying these parameters is becoming increasingly important. Obviously, interventional research in human beings is limited by ethical issues; hence, investigations need to be conducted on animal models, either rodents or large animals. This review summarizes the results of epidemiological human studies and translational animal research in unraveling the interaction between genome, nutritional status and adaptive response on the establishment of postnatal obesity, insulin resistance and type-2 diabetes.

  14. Prenatal exposure of mice to the human liver carcinogen Aflatoxin B1 reveals a critical window of susceptibility to genetic change

    OpenAIRE

    2014-01-01

    It has become axiomatic that critical windows of susceptibility to genotoxins exist and that genetic damage in utero may be a trigger for later life cancers. Data supporting this critical window hypothesis are remarkably few. This study provides a quantitative bridge between DNA damage by the liver carcinogen aflatoxin B1 (AFB1) during prenatal development and the risk of later life genetic disease. AFB1 was given to pregnant C57BL/6J mice, carrying F1 gestation day 14 (GD14) embryos of the B...

  15. Review of Spinal Muscular Atrophy (SMA) for Prenatal and Pediatric Genetic Counselors.

    Science.gov (United States)

    Carré, Amanda; Empey, Candice

    2016-02-01

    Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular condition with degeneration of the anterior horn cells in the spinal column. Five SMA subtypes exist with classification dependent upon the motor milestones achieved. Study of the SMN1 (survival motor neuron) and SMN2 genes as well as the concepts of the "2 + 0" carriers, gene conversion, de novo mutations and intragenic mutations allow for a better understanding of SMA. Detailing the carrier and diagnostic testing options further deepens the genetic counselor's knowledge of SMA. A review of care guidelines and research options is included as this information gives a patient a well-rounded view of SMA. Although SMA is most commonly associated with the SMN1 gene, a number of spinal muscular atrophies not caused by genetic changes in this gene may be included as differential diagnoses until confirmatory testing can be completed. SMA is a complex condition requiring a detailed knowledge on the genetic counselor's part in order to explain the disorder to the patient with clarity thus facilitating increased communication and decision making guidance with the patient.

  16. Prenatal Diagnosis and Genetic Analysis of a Fetus with 47,XX, +21/46,XX Mosaicism and XX/XY Chimerism

    Directory of Open Access Journals (Sweden)

    Hsiao-Lin Hwa

    2006-01-01

    Full Text Available Prenatal diagnosis of simultaneous occurrence of chimerism and autosomal mosaicism is extremely rare. We report the prenatal diagnosis and genetic analysis of a fetus in a twin pregnancy with mosaic 47,XX,+21/46,XX with chimeric XX/XY. A 36-year-old, para 1, woman was referred for genetic counseling at 20 weeks' gestation because of abnormal karyotype (47,XX,+21/46,XX in one fetus in a twin pregnancy. Cordocentesis revealed 47,XX,+21[3]/46,XX[35]/46,XY[7] in this fetus. Postnatal cytogenetic analysis of cord blood confirmed three cell lines in this twin (A and 46,XY in the co-twin (B. Postmortem pathologic findings of both fetuses were normal. Fluorescence in situ hybridization identified three cell lines in the cord blood of twin A. Molecular genetic analysis using polymorphic DNA markers revealed parental origin of fetal tissue, and confirmed the chimeric status. Molecular genetic analysis with polymorphic DNA markers help to differentiate chimerism from mosaicism and define the origin of cell lines, which may have importance in genetic counseling.

  17. 毛细管电泳在产前诊断地中海贫血中的应用%DIAGNOSTIC UTILITY OF CAPILLARY ELECTROPHORESIS IN PRENATAL DIAGNOSIS SCREENING FOR THALASSEMIA

    Institute of Scientific and Technical Information of China (English)

    郭浩; 郭莉; 唐斌; 陈汉彪; 杜丽; 王奕霞

    2015-01-01

    Objective To study the diagnostic utility of capillary electrophoresis in prenatal diagnosis screening for thalassemia .Methods Between January 2013 and June 2014, 286 pregnant women were recruited who attended the prenatal diagnosis screening for thalassemia with hemoglobin electrophoresis and genetic testing at third term.Results With the genetic testing , 83 cases were normal;21 cases were homozygous α-thalassemia;13 cases wereα-thalassemia intermedia;86 cases were mildα-thalassemia;11 cases were'silent'α-thalassemia.Besides, 15 cases were homozygous β-thalassemia;51 cases were heterozygotes β-thalassemia;6 cases were compound het-erozygotes mutation of the αand β-globin chain gene .The results showed that increased Hb Bart's level or the pro-portion of Hb A in fetuses could be induced by the severity of thalassemia .Conclusion Capillary electrophoresis was definitely helpful in prenatal diagnosis screening for thalassemia at the third term .%目的:探讨毛细管电泳技术在产前诊断地中海贫血中的应用价值。方法2013年1月~2014年6月期间在本院因夫妇双方为同型地中海贫血为产前诊断指征且孕周为24~34周的就诊病例286例。对脐带穿刺后获取的脐血标本进行血红蛋白毛细管电泳和地中海贫血基因诊断。结果286例标本中,正常83例,巴氏水肿胎21例, Hb H 13例,轻型α-地贫86例,静止型α-地贫11例,重型β-地贫15例,轻型β-地贫51例,α复合β-地贫6例。脐血血红蛋白组成分析显示α-地贫胎儿脐血Hb Bart ’ s百分含量随受累α-珠蛋白基因个数的增加而增多,β-地贫胎儿脐血Hb A百分含量随受累β-珠蛋白基因个数的增加而减少。结论毛细管电泳能辅助诊断孕晚期胎儿α地中海贫血及β地中海贫血。

  18. Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape.

    Science.gov (United States)

    Holtkamp, Kim C A; Vos, Evelien M; Rigter, Tessel; Lakeman, Phillis; Henneman, Lidewij; Cornel, Martina C

    2017-02-16

    In most countries, genetic carrier screening is neither offered, nor embedded in mainstream healthcare. Technological developments have triggered a two-fold transition in carrier screening: the expansion from screening one single disorder to many disorders simultaneously, and offering screening universally, regardless of ancestry. This study aims to identify general and population-specific barriers and needs reflected by stakeholders regarding the implementation of carrier screening in a changing landscape. Seventeen semi-structured interviews were conducted with Dutch key stakeholders working in the practical and scientific field of carrier screening. The constellation approach was used to categorise barriers and needs into three levels: culture, structure and practice. Barriers on a cultural level include: undecidedness about the desirability of carrier screening, and a lack of priority of screening in mainstream healthcare. On a structural level barriers included: need for organisational structures in healthcare for embedding carrier screening, need for guidelines, financial structures, practical tools for overcoming challenges during counselling, and a need for training and education of both professionals and the public. A lack of demand for screening by the public, and a need for a division of responsibilities were barriers on a practical level. The absence of a collective sense of urgency for genetic carrier screening, a lack of organisational structures, and uncertainty or even disagreement about the responsibilities seem to be important barriers in the implementation of carrier screening. Stakeholders therefore suggest that change agents should be formally acknowledged to strategically plan broadening of current initiatives and attune different stakeholders.

  19. Down analysis of 7859 cases of second trimester screening and prenatal diagnosis in Huaihua Region%怀化地区7859例孕中期唐氏筛查和产前诊断结果分析

    Institute of Scientific and Technical Information of China (English)

    唐勇; 冯宗辉; 向文秀; 李金英

    2011-01-01

    目的 探讨孕中期唐氏筛查和产前诊断对检出胎儿染色体异常和妊娠不良结局的临床价值.方法 应用时间分辨荧光免疫法对7859例孕中期(14-20周)妇女进行血清标记物三联方案(hAFP+free-β-hCG+uE3)检测.筛查结果应用Muhical软件计算21三体、18三体综合征和开放性神经管畸形的风险(rish)概率.对于高风险孕妇经遗传咨询,知情同意,自愿选择行产前诊断,于孕18-24周左右在超声引导下进行羊膜腔穿刺,抽取羊水培养进行胎儿染色体核型分析.并继续追踪胎儿和孕妇情况.结果 在7859例孕妇中,筛查到高风险732例,唐氏筛查阳性率为7.65%(601/7859).其中367例接受羊水或脐血穿刺产前诊断,占筛查高风险孕妇的50.13%(367/732);发现胎儿染色体异常16例,异常检出率4.36(16/367),其中6例唐氏综合征、5例18-三体综合征、4例Turner's综合征、1例9号染色体臂间倒位.唐氏筛查高风险和低风险组不良妊娠结局分别为6.15%和1.46%,呈显著性差异(<0.05).结论 孕中期产前筛查是预测异常胎儿和不良妊娠结局的有效指标.结合羊水培养或脐血培养等产前诊断技术和方法,对预防先天缺陷儿出生、提高人口素质有重要临床应用价值.%Objective: To investigate the second trimester prenatal diagnosis of Down's screening and detection of fetal chromosomal abnormalities and the clinical value of adverse outcomes of pregnancy. Methods; The time-resolved fluorescence immunoassay 7, 859 cases of second trimester (14-20 weeks) women with serum markers triple regimen (hAFP + free - β - hCG + uE3) detection. Application software to calculate screening results Multical trisomy 21, trisomy 18 syndrome and open neural tube defects risk (rish) probability. For high-risk pregnant women by genetic counseling, informed consent, voluntarily choose to prenatal diagnosis, the pregnancy at 18 -24 weeks amniocentesis under ultrasound guidance, taking

  20. Genetic synthetic lethality screen at the single gene level in cultured human cells

    OpenAIRE

    Simons, Arnold H.; Dafni, Naomi; Dotan, Iris; Oron, Yoram; Canaani, Dan

    2001-01-01

    Recently, we demonstrated the feasibility of a chemical synthetic lethality screen in cultured human cells. We now demonstrate the principles for a genetic synthetic lethality screen. The technology employs both an immortalized human cell line deficient in the gene of interest, which is complemented by an episomal survival plasmid expressing the wild-type cDNA for the gene of interest, and the use of a novel GFP-based double-label fluorescence system. Dominant negative genetic suppressor elem...

  1. 3595例孕中期妇女产前筛查结果分析%Analysis of prenatal screening results in 3 595 middle pregnant women

    Institute of Scientific and Technical Information of China (English)

    曹锋; 陈炜

    2014-01-01

    目的:通过检测孕中期孕母血清甲胎蛋白(AFP)、β-人绒毛膜促性腺激素(β-HCG)、非偶联雌三醇(uE3)水平,探讨产前筛查临床应用价值。方法采用化学发光法对3595例孕中期孕妇进行血清 AFP、β-HCG、uE3定量检测,结合孕妇年龄、孕周、体质量等因素,计算风险值。随后对高风险孕妇进行羊水细胞染色体核型分析及 B 超检查。结果3595例孕妇唐氏综合征(DS)、爱德华综合征(ES)、先天性神经管缺陷(NTD)筛查阳性率分别为3.70%(133/3595)、0.11%(4/3595)和1.44%(52/3595)。产前筛查189例为高风险孕妇,其中87例进行染色体核型分析、超声影像等产前诊断,确诊6例,其中 DS 3例、NTD 2例、ES 1例。结论产前筛查是一种无创伤性检测手段,对避免 DS、ES、NTD 患儿出生有重要临床应用价值。%Objective To explore the clinical value of prenatal screening by detecting α-fetoprotein(AFP),β-human chorionic gonadotrophin(β-HCG)and free estriol(u-E3)levels in the second trimester of pregnancy.Methods AFP,β-HCG and u-E3 were de-tected in 3 595 second trimester pregnant women by chemiluminescence.The risk value was calculated by combining with the factors of age,pregnant weeks,body weight,etc.Then the high-risk pregnant women were carried out the amniotic fluid cells chromosome karyotype analysis and B-ultrasonic examination.Results Among 3 595 pregnant women,the screening positive rates of Down′s syndrome(DS),Edward′s syndrome(ES)and neural tube defects(NTD)were 3.70%(133/3 595),0.11%(4/3 595)and 1.44%(52/3 595)respectively.In the prenatal screening,there were 189 cases of high risk pregnant women,among them 87 cases were per-formed the prenatal diagnosis of amniotic fluid cells chromosome karyotype analysis and B-ultrasonic examination,6 cases were defi-nitely diagnosed,in which 3 cases were DS,2 cases were NTD and 1 case was ES

  2. Diagnostic, carrier and prenatal genetic testing for fragile X syndrome and other FMR-1-related disorders in Johannesburg, South Africa: a 20-year review.

    Science.gov (United States)

    Essop, Fahmida B; Krause, Amanda

    2013-10-11

    Fragile X syndrome (FXS), the most common inherited cause of intellectual disability (ID) worldwide, is caused by the expansion of a CGG repeat in the fragile X mental retardation gene (FMR-1) gene. OBJECTIVES; To review, retrospectively, the genetic services for FXS and other FMR-1-related disorders - including fragile X-associated tremor/ataxia syndrome (FXTAS) and FMR-1-related primary ovarian insufficiency (POI) - at the Division of Human Genetics, Johannesburg, for diagnostic, carrier and prenatal genetic testing.Methods. The records of 2 690 patients with ID and suspected FXS (ID/?FXS) who had genetic testing for FMR-1 between 1992 and 2012 were reviewed. Of these, 2 239 had diagnostic testing, 430 carrier or cascade testing and 17 prenatal testing for FXS. Four had FXTAS or POI testing. Polymerase chain reaction (PCR) and/or Southern blotting techniques were used to test the patients' samples for FMR-1 and FMR-2 expansions. RESULTS; Of the 2 239 patients who had diagnostic testing, 128 (5.7%) had a full mutation, 12 (0.5%) had a premutation and 43 (1.9%) an intermediate allele. In 17 prenatal tests, eight fetuses tested positive for FXS. FMR-1 CGG repeat distribution analysis in 1 532 males negative for the FMR-1 expansion showed that 29 and 30 CGG repeats were the most common (61.1%), but distribution was significantly different in the black and white populations.CONCLUSION; The findings support the presence of FXS, as the most common cause of ID, in all local populations. The FMR-1 CGG repeat distribution varied from that found in other studies. The number of family members tested was relatively low suggesting that many at-risk individuals are not being referred.

  3. Systematic genetic screening in a prospective group of Danish patients with pheochromocytoma

    DEFF Research Database (Denmark)

    Hansen, Morten Steen Svarer; Jacobsen, Niels; Frederiksen, Anja Lisbeth

    2017-01-01

    Recent guidelines recommend consideration of genetic screening in all newly diagnosed patients with pheochromocytoma. Patients diagnosed with pheochromocytoma in the Region of Southern Denmark during 2006-2013 without previously recognized monogenetic etiology were offered genetic screening...... for mutations in the VHL, RET, SDHB, SDHC, and SDHD genes. A total of 41 patients were included, and genetic data were available in 35. In four of the 35 patients, a pathogenic variant was identified prior to the diagnosis of pheochromocytoma (von Hippel-Lindau disease, n=2; neurofibromatosis type 1, n=2......). The patients carrying a genetic mutation were all younger than 45 years at time of diagnosis of pheochromocytoma, two patients presented with bilateral tumors, and one patient had a positive family history of pheochromocytoma. Genetic screening of the remaining 31 patients did not identify any mutations...

  4. Chemical genetics and drug screening in Drosophila cancer models

    Institute of Scientific and Technical Information of China (English)

    Mara Gladstone; Tin Tin Su

    2011-01-01

    Drug candidates often fail in preclinical and clinical testing because of reasons of efficacy and/or safety.It would be time- and cost-efficient to have screening models that reduce the rate of such false positive candidates that appear promising at first but fail later.In this regard,it would be particularly useful to have a rapid and inexpensive whole animal model that can pre-select hits from high-throughput screens but before testing in costly rodent assays.Drosophila melanogaster has emerged as a potential whole animal model for drug screening.Of particular interest have been drugs that must act in the context of multi-cellularity such as those for neurological disorders and cancer.A recent review provides a comprehensive summary of drug screening in Drosophila,but with an emphasis on neurodegenerative disorders.Here,we review Drosophila screens in the literature aimed at cancer therapeutics.

  5. 唐氏征筛查高危孕妇的快速产前诊断%Rapid prenatal diagnosis for the high risk gravid of Down's screening

    Institute of Scientific and Technical Information of China (English)

    周丽颖; 贾婵维; 余兰; 梁毓; 兰永连; 李颖; 王树玉

    2012-01-01

    目的 通过荧光原位杂交(FISH)技术与细胞学对照,研究FISH对于唐氏征筛查高危患者产前诊断的应用价值.方法 应用国产FISH探针,平行细胞染色体分析进行1637名唐氏征筛查高危孕妇的产前诊断.主要检测21,13,18,X和Y染色体.结果 1637例产前诊断病历,共检出非整倍体异常核型33例,FISH检测与细胞染色体分析结果一致.唐筛高危合并高龄易发生染色体非整倍体异常.结论 荧光原位杂交探针应用于唐氏征筛查高危孕妇检测染色体非整倍体异常结果可靠.%Objective To evaluate the application of fluorescence in situ hybridization (FISH) in prenatal diagnosis of chromosome abnormalities. Meanwhile, cytogenetic karyotype analysis was performed as control. Methods; 5 chromosomes (21, 13, 18, X and Y) were detected with FISH. 1637 patients were selected for prenatal diagnosis. Results; Of all 1637 samples, 33 samples were shown with abnormal karyotypes. Results; Of both FISH and cytogenetic karyotype analysis exhibited extreme concordance of 5 chromosomes. Abnormal karyotypes was common in gravid of high risk of Downs screening with advanced age. Conclusion; FISH probes can effectively detect abnormal karyotypes in high risk gravid of Downs screening.

  6. Physician liability and non-invasive prenatal testing.

    Science.gov (United States)

    Toews, Maeghan; Caulfield, Timothy

    2014-10-01

    Although non-invasive prenatal testing (NIPT) marks a notable development in the field of prenatal genetic testing, there are some physician liability considerations raised by this technology. As NIPT is still emerging as the standard of care and is just starting to receive provincial funding, the question arises of whether physicians are obligated to disclose the availability of NIPT to eligible patients as part of the physician-patient discussion about prenatal screening and diagnosis. If NIPT is discussed with patients, it is important to disclose the limitations of this technology with respect to its accuracy and the number of disorders that it can detect when compared with invasive diagnostic options. A failure to sufficiently disclose these limitations could leave patients with false assurances about the health of their fetuses and could raise informed consent and liability issues, particularly if a child is born with a disability as a result.

  7. 眼皮肤白化病Ⅱ型产前基因诊断二例%Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ

    Institute of Scientific and Technical Information of China (English)

    胡浩; 王华; 贾政军; 谢琼

    2014-01-01

    目的 对生育过眼皮肤白化病(oculocutaneous albinism,OCA)患儿的2个家系进行基因诊断分型,并在此基础上提供产前基因诊断.方法 采用PCR扩增先证者OCA1型疾病相关TYR基因的所有5个编码外显子和OCA2型疾病相关P基因的所有23个编码外显子,PCR产物直接测序,在确定致病突变的基础上对家系成员进行综合分析.结果 两例OCA先证者均未检测到TYR基因的致病突变,但均携带P基因的复合杂合突变,因此确定2例均为OCA2型患者.P基因共检测到4种突变:c.406C>T、c.535A>G、c.808-2A>G和c.2180T>C,其中c.535A>G和c.808-2A>G为新突变.2个家系的第1次产前诊断均提示胎儿基因型与先证者一致,家属选择终止妊娠.第2次产前基因诊断,2个家系中1例胎儿为P基因c.808-2A>G携带者,另1例为P基因野生型携带者.两名孕妇均继续妊娠至足月分娩,新生儿随访均正常.结论 应用基因检测可为眼皮肤白化病患者提供确切的临床分型,并在此基础上提供有效的产前基因诊断.%Objective To perform genotyping analysis and subsequent prenatal genetic diagnosis for two families affected with oculocutaneous albinism (OCA).Methods 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.Results 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

  8. Update on prenatal care.

    Science.gov (United States)

    Zolotor, Adam J; Carlough, Martha C

    2014-02-01

    Many elements of routine prenatal care are based on tradition and lack a firm evidence base; however, some elements are supported by more rigorous studies. Correct dating of the pregnancy is critical to prevent unnecessary inductions and to allow for accurate treatment of preterm labor. Physicians should recommend folic acid supplementation to all women as early as possible, preferably before conception, to reduce the risk of neural tube defects. Administration of Rho(D) immune globulin markedly decreases the risk of alloimmunization in an RhD-negative woman carrying an RhD-positive fetus. Screening and treatment for iron deficiency anemia can reduce the risks of preterm labor, intrauterine growth retardation, and perinatal depression. Testing for aneuploidy and neural tube defects should be offered to all pregnant women with a discussion of the risks and benefits. Specific genetic testing should be based on the family histories of the patient and her partner. Physicians should recommend that pregnant women receive a vaccination for influenza, be screened for asymptomatic bacteriuria, and be tested for sexually transmitted infections. Testing for group B streptococcus should be performed between 35 and 37 weeks' gestation. If test results are positive or the patient has a history of group B streptococcus bacteriuria during pregnancy, intrapartum antibiotic prophylaxis should be administered to reduce the risk of infection in the infant. Intramuscular or vaginal progesterone should be considered in women with a history of spontaneous preterm labor, preterm premature rupture of membranes, or shortened cervical length (less than 2.5 cm). Screening for diabetes should be offered using a universal or a risk-based approach. Women at risk of preeclampsia should be offered low-dose aspirin prophylaxis, as well as calcium supplementation if dietary calcium intake is low. Induction of labor may be considered between 41 and 42 weeks' gestation.

  9. Coeliac disease and autoimmune disease-genetic overlap and screening

    NARCIS (Netherlands)

    Lundin, Knut E. A.; Wijmenga, Cisca

    Coeliac disease is a treatable, gluten-induced disease that often occurs concurrently with other autoimmune diseases. In genetic studies since 2007, a partial genetic overlap between these diseases has been revealed and further insights into the pathophysiology of coeliac disease and autoimmunity

  10. Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011.

    Science.gov (United States)

    Novelli, A; Grati, F R; Ballarati, L; Bernardini, L; Bizzoco, D; Camurri, L; Casalone, R; Cardarelli, L; Cavalli, P; Ciccone, R; Clementi, M; Dalprà, L; Gentile, M; Gelli, G; Grammatico, P; Malacarne, M; Nardone, A M; Pecile, V; Simoni, G; Zuffardi, O; Giardino, D

    2012-04-01

    A precise guideline establishing chromosomal microarray analysis (CMA) applications and platforms in the prenatal setting does not exist. The controversial question is whether CMA technologies can or should soon replace standard karyotyping in prenatal diagnostic practice. A review of the recent literature and survey of the knowledge and experience of all members of the Italian Society of Human Genetics (SIGU) Committee were carried out in order to propose recommendations for the use of CMA in prenatal testing. The analysis of datasets reported in the medical literature showed a considerable 6.4% incidence of pathogenic copy number variations (CNVs) in the group of pregnancies with sonographically detected fetal abnormalities and normal karyotype. The reported CNVs are likely to have a relevant role in terms of nosology for the fetus and in the assessment of reproductive risk for the couple. Estimation of the frequency of copy number variations of uncertain significance (VOUS) varied depending on the different CMA platforms used, ranging from 0-4%, obtained using targeted arrays, to 9-12%, obtained using high-resolution whole genome single nucleotide polymorphism (SNP) arrays. CMA analysis can be considered a second-tier diagnostic test to be used after standard karyotyping in selected groups of pregnancies, namely those with single (apparently isolated) or multiple ultrasound fetal abnormalities, those with chromosomal rearrangements, even if apparently balanced, and those with supernumerary marker chromosomes.

  11. A recessive genetic screen for components of the RNA interference pathway in mouse embryonic stem cells.

    Science.gov (United States)

    Trombly, Melanie I; Wang, Xiaozhong

    2010-01-01

    Several key components of the RNA interference (RNAi) pathway were identified in genetic screens performed in nonmammalian model organisms. To identify components of the mammalian RNAi pathway, we developed a recessive genetic screen in mouse embryonic stem (ES) cells. Recessive genetic screens are feasible in ES cells that are Bloom-syndrome protein (Blm-) deficient. Therefore, we constructed a reporter cell line in Blm-deficient ES cells to isolate RNAi mutants through a simple drug-selection scheme. This chapter describes how we used retroviral gene traps to mutagenize the reporter cell line and select for RNAi mutants. Putative RNAi mutants were confirmed using a separate functional assay. The location of the gene trap was then identified using molecular techniques such as Splinkerette PCR. Our screening strategy successfully isolated several mutant clones of Argonaute2, a vital component of the RNAi pathway.

  12. Medical and lay attitudes towards genetic screening and testing in Finland

    DEFF Research Database (Denmark)

    Toiviainen, Hanna; Jallinoja, Piia; Aro, Arja R

    2003-01-01

    The purpose of this study was to compare physicians', midwives' and lay people's attitudes towards genetic screening and testing to find out whether medical education and experience influence attitudes of genetic screening and testing. The study was based on comparison of answers to joint questions...... referred to as midwives in the following; n=800, response rate 79%), and lay people (n=2000, response rate 62%). Midwives were more worried about the consequences of genetic testing and stressed the autonomy of the customer more strongly than lay people did. Furthermore, professionals considered that lay...

  13. 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....

  14. Non-invasive prenatal testing for aneuploidy and beyond

    DEFF Research Database (Denmark)

    Dondorp, Wybo; de Wert, Guido; Bombard, Yvonne

    2015-01-01

    This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT ha...

  15. Early prenatal genetic diagnosis of oculocutaneous albinism type Ⅰ in seven families%七个眼皮肤白化病Ⅰ型家系的早期产前诊断

    Institute of Scientific and Technical Information of China (English)

    吴庆华; 史惠蓉; 刘宁; 鲁宁; 江淼; 赵振华; 孔祥东

    2012-01-01

    heterozygous mutations.Six families decided to carry on with the pregnancies. And the neonates did not show any symptoms of OCA after birth. Conclusion Direct sequencing of the TYR gene is helpful for genetic counseling,prenatal diagnosis and carriers screening of OCA1.

  16. Applying theological developments to bioethical issues such as genetic screening.

    NARCIS (Netherlands)

    Mallia, P.; Have, H.A.M.J. ten

    2005-01-01

    Catholic movements within the centre of Roman Catholic doctrine recently have discussed Trinitarian theology as applied to sciences, arts, economics, health and other social areas. We explore the possibilities Trinitarian theology offers to bioethical debate, concentrating particularly on genetic sc

  17. Screening for oral precancer with noninvasive genetic cytology

    NARCIS (Netherlands)

    Bremmer, J.F.; Graveland, A.P.; Brink, A.; Braakhuis, B.J.M.; Kuik, D.J.; Leemans, C.R.; Bloemena, E.; van der Waal, I.; Brakenhoff, R.H.

    2009-01-01

    Oral squamous cell carcinomas develop in precancerous fields consisting of genetically altered mucosal epithelial cells. These precancerous fields may appear as clinically visible lesions, in particular, oral leukoplakia, but the large majority remains clinically undetectable. The aim of this study

  18. The effectiveness of ultrasound screening in the prenatal diagnosis of fetal malformation%胎儿肢体畸形的产前超声诊断价值

    Institute of Scientific and Technical Information of China (English)

    吕小利; 薛玉; 许建萍; 张歆; 吴新财; 陈宝定

    2015-01-01

    目的:探讨超声筛查诊断胎儿肢体畸形的价值。方法超声筛查8368名孕16~34周的孕妇,运用二维连续顺序追踪超声检测法(SCSA)结合三维超声表面及透明成像模式检查胎儿肢体。结果引产后胎儿肢体畸形22例,产前超声检出21例[9例双足内翻,1例一足外翻,2例四肢短小畸形,1例左小腿缺如,1例双上肢前臂缺如,3例肢体姿势异常,1例双侧桡骨缺失,3例多指(趾)]。其中19例合并其他畸形,1例漏诊及3例部分漏诊。结论二维超声连续顺序追踪检测法结合三维超声表面及透明成像法是产前检出胎儿肢体畸形的有效方法。%Objective To evaluate the effectiveness of ultrasound screening and diagnosis of fetal limb defor-mities. Methods Ultrasound screening of 8 368 cases of pregnancy 16 to 34 weeks pregnant , focus on detection of fetus′limbs by using systematic continuous sequence approach (SCSA) combined with three-dimensional ultrasound. Results After development of fetal limb deformity in 22 cases, prenatal ultrasound detected 21 cases, including 9 cases of varus feet,1 case of valgus foot , 2 cases of short limb deformity, 1 case with left leg absent,1 case of upper forearm absent, 1 cases of pairs of limb posture abnormalities, 3 cases of pairs of limb posture abnormalities, 1 case of Congenital radiu deficiency ,and 3 cases of multiple fingers (toes), with 19 cases complicate with other malformations,1 case of missed diagnosis and missed parts of 3 cases. Conclusion The method of systematic continuous sequence ap-proach (SCSA) in two-dimensional ultrasound combined with three-dimensional ultrasound screening are effective tools for use in prenatal identification ofetal limb deformities.

  19. Uniparental disomy (UPD). Genomic imprinting and a case for new genetics (prenatal and clinical implications: the "Likon" concept).

    Science.gov (United States)

    Engel, E

    1997-01-01

    Uniparental disomy (UPD) is often the result of an aneuploid event masquerading under the features of diploidy. As such, it may never be recognized, being at 2 opposite phenotypic poles, harmless to the bearer, or, if harmful, eventually responsible for uncharacteristic although perhaps serious conditions. UPD can also be associated with problems such as recessiveness or mosaicism. This article considers the chances of unmasking UPD, in the course of CVS or AC prenatal diagnosis, by reviewing the main cytogenetic signals and major familial or personal antecedents raising its suspicion. Once suspected, the lead toward UPD may or may not be followed through appropriate molecular studies. UPD for either maternal or paternal chromosomes 13, 21 and 22 may not have consistent, common deleterious effects, while other identified UPD's are too rare to call. Unconditionally, main, consistent or near consistent damages to the phenotype have been traced to specific chromosome pairs such as 15 mat (Prader-Willi syndrome), 15 pat (Angelman syndrome), 11 pat (Wiedemann-Beck with syndrome), 14 mat and pat (multiple cogenital and developmental anomalies [MCDA]-several rather constant) and 7 mat (Russel-Silver [RS] and Growth-failure [GF]). The above problems all stem from an alteration of the normal, developmentally important genomic imprinting processes and most of them may recognize several etiopathogenic paths, other than UPD, none of which abides by straight Mendelian rules. In this very area, therefore, a new, non-traditional type of inheritance is confronting genetic counselling. In this paper, for want of appropriate semantic language, the neologism "likon" (or "laïkon") is coined to make reference to the hemizygously expressed sequences of the genomic parts imprinted in the somatic tissues. Broadening the definition, the word is then applied to the 4 possible epigenotypes of imprinted domains, which depend on the parental sex-of-origin: germinally "resting" (R), or "acting

  20. 产前筛查与诊断的质量控制与热点问题%Quality control and hot issues of maternal serum prenatal screening in China

    Institute of Scientific and Technical Information of China (English)

    吕时铭; 沈凤贤

    2013-01-01

    母血清学产前筛查的质量控制必须强调:孕周和体重等临床因素、测定结果的准确性、风险计算参数、产前筛查数据库等均会影响筛查质量,且产前筛查的结果只是一个风险提示,后续的诊断与随访是关键.现行的中孕期筛查存在检出效率低、假阳性率高等问题,建立适合我国国情的产前筛查和诊断质量管理体系有望提高筛查效率.此外,高龄孕妇及双胎妊娠筛查诊断问题,改进羊水细胞培养方法、提升染色体分析自动化水平,以及快速产前分子诊断技术的引入及定位等问题亟待我们解决.%It must be emphasized in the maternal serum prenatal screening that the quality is not only influenced by accuracy of biomarker assay,risk calculation parameters and biomarker database,but also influenced by clinical factors such as gestational weeks,weight and ect.The result of prenatal screening is just a risk evaluation,the subsequent diagnosis and the follow-up are more important.It is expected to improve screening efficiency by localization of prenatal screening database and making the quality management of the prenatal screening-diagnosis suitable for the national conditions.On the other hand,prenatal screening in the women of advanced maternal age and twin pregnancy,improve amniotic fluid cell culture method,chromosome analysis automation,the introduction and positioning of rapid prenatal molecular diagnosis techniques become the hot issues.

  1. Pathways and barriers to genetic testing and screening: Molecular genetics meets the high-risk family. Final report

    Energy Technology Data Exchange (ETDEWEB)

    Duster, T.

    1998-11-01

    The proliferation of genetic screening and testing is requiring increasing numbers of Americans to integrate genetic knowledge and interventions into their family life and personal experience. This study examines the social processes that occur as families at risk for two of the most common autosomal recessive diseases, sickle cell disease (SC) and cystic fibrosis (CF), encounter genetic testing. Each of these diseases is found primarily in a different ethnic/racial group (CF in Americans of North European descent and SC in Americans of West African descent). This has permitted them to have a certain additional lens on the role of culture in integrating genetic testing into family life and reproductive planning. A third type of genetic disorder, the thalassemias was added to the sample in order to extent the comparative frame and to include other ethnic and racial groups.

  2. Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues

    Directory of Open Access Journals (Sweden)

    Gekas J

    2016-02-01

    Full Text Available Jean Gekas,1,2 Sylvie Langlois,3 Vardit Ravitsky,4 François Audibert,5 David Gradus van den Berg,6 Hazar Haidar,4 François Rousseau2,7 1Prenatal Diagnosis Unit, Department of Medical Genetics and Pediatrics, Faculty of Medicine, Université Laval, Québec City, QC, Canada; 2Department of Medical Biology, CHU de Québec, Québec City, QC, Canada; 3Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; 4Bioethics Program, Department of Social and Preventive Medicine, School of Public Health, University of Montreal, Montreal, QC, Canada; 5Department of Obstetrics and Gynecology, Hospital Sainte-Justine, Montreal, QC, Canada; 6Department of Social and Preventive Medicine, Faculty of Medicine, Université Laval, Québec City, QC, Canada; 7Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Université Laval, Québec City, QC, Canada Abstract: Genomics-based non-invasive prenatal screening using cell-free DNA (cfDNA screening was proposed to reduce the number of invasive procedures in current prenatal diagnosis for fetal aneuploidies. We review here the clinical and ethical issues of cfDNA screening. To date, it is not clear how cfDNA screening is going to impact the performances of clinical prenatal diagnosis and how it could be incorporated in real life. The direct marketing to users may have facilitated the early introduction of cfDNA screening into clinical practice despite limited evidence-based independent research data supporting this rapid shift. There is a need to address the most important ethical, legal, and social issues before its implementation in a mass setting. Its introduction might worsen current tendencies to neglect the reproductive autonomy of pregnant women. Keywords: prenatal diagnosis, Down syndrome, non-invasive prenatal testing, cell-free fetal DNA, informed consent, reproductive autonomy

  3. Screening for Outliers in Multiple Trait Genetic Evaluarion

    DEFF Research Database (Denmark)

    Madsen, Per; Pösa, Jukka; Pedersen, Jørn

    2012-01-01

    genetic evaluation in dairy cattle. Application of such is simple to implement and increased the accuracy of predicted breeding values for animals that has one or more records edited. Potential biases in evaluations for contemporary animals were also reduced. Optimum editing rules can be determined using......Use of multivariate models in genetic evaluation requires a multivariate method for detecting erroneous outliers that cannot be detected using univariate methods. A simple rule for detecting outliers based on an approximated Mahanalobis distance was applied to Jersey data from the routine Nordic...

  4. No beneficial effect of preimplantation genetic screening in women of advanced maternal age with a high risk for embryonic aneuploidy

    NARCIS (Netherlands)

    Twisk, Moniek; Mastenbroek, Sebastiaan; Hoek, Annemieke; Heineman, Maas-Jan; van der Veen, Fulco; Bossuyt, Patrick M.; Repping, Sjoerd; Korevaar, Johanna C.

    2008-01-01

    Human preimplantation embryos generated through in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) treatments show a variable rate of numerical chromosome abnormalities or aneuploidies. Preimplantation genetic screening (PGS) has been designed to screen for aneuploidies in high

  5. No beneficial effect of preimplantation genetic screening in women of advanced maternal age with a high risk for embryonic aneuploidy

    NARCIS (Netherlands)

    Twisk, Moniek; Mastenbroek, Sebastiaan; Hoek, Annemieke; Heineman, Maas-Jan; van der Veen, Fulco; Bossuyt, Patrick M.; Repping, Sjoerd; Korevaar, Johanna C.

    2008-01-01

    Human preimplantation embryos generated through in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) treatments show a variable rate of numerical chromosome abnormalities or aneuploidies. Preimplantation genetic screening (PGS) has been designed to screen for aneuploidies in high

  6. Prenatal Genetic Diagnostic Tests

    Science.gov (United States)

    ... is taken from the placenta. The two main advantages of having CVS over amniocentesis are that 1) ... the development of a person’s physical traits and control of the processes in the ... birth defect that causes intellectual disability, blindness, seizures, and ...

  7. Prenatal Genetic Diagnostic Tests

    Science.gov (United States)

    ... are offered to all pregnant women. What is amniocentesis? Amniocentesis is a diagnostic test. It usually is done ... a very small chance of pregnancy loss with amniocentesis. Leakage of amniotic fluid and slight bleeding can ...

  8. A genetic screen for components of the mammalian RNA interference pathway in Bloom-deficient mouse embryonic stem cells

    OpenAIRE

    2009-01-01

    Genetic screens performed in model organisms have helped identify key components of the RNA interference (RNAi) pathway. Recessive genetic screens have recently become feasible through the use of mouse embryonic stem (ES) cells that are Bloom's syndrome protein (Blm) deficient. Here, we developed and performed a recessive genetic screen to identify components of the mammalian RNAi pathway in Blm-deficient ES cells. Genome-wide mutagenesis using a retroviral gene trap strategy resulted in the ...

  9. Screening of spontaneous castor bean accesses for genetic ...

    African Journals Online (AJOL)

    Tuoyo Aghomotsegin

    2016-10-05

    Oct 5, 2016 ... 1Department of Agricultural Engineering, Federal University of Campina Grande ... sizing the consequences of human actions in the ... significant increase in the literature of the use of ... genetic improvement programs of this culture in Brazil, ... subsequent selection according to color pattern, weight, health,.

  10. BACs-on-Beads™ (BoBs™) assay for the genetic evaluation of prenatal samples and products of conception.

    Science.gov (United States)

    Grati, Francesca Romana; Vialard, François; Gross, Susan

    2015-01-01

    BACs-on-Beads™ (BoBs™) is a new emerging technology, a modification of comparative genomic hybridization that can be used to detect DNA copy number gains and losses. Here, we describe the application of two different types of BoBs™ assays: (1) Prenatal BoBs (CE-IVD) to detect the most frequent syndromes associated with chromosome microdeletions, as well as the trisomy 13, 18 and 21, and (2) KaryoLite BoBs (RUO) which can detect aneuploidy in all chromosomes by quantifying proximal and terminal regions of each chromosomal arm. The interpretation of the results by BoBsoft™ software is also described. Although BoBs™ may not have the breadth and scope to replace chromosomal microarrays (array comparative genomic hybridization and single nucleotide polymorphism array) in the prenatal setting, particularly when a fetal anomaly has been detected, it is a well suited alternative for FISH or QF-PCR because BoBs™ is comparable, if not superior in terms of cost, turnaround time (TAT) and throughput and accuracy. BoBs™ also has the ability to detect significant fetal mosaicism (≥30% with Prenatal BoBs and ≥50% with KaryoLite BoBs). However, perhaps the greatest strength of this new technology is the fact that unlike FISH or QF-PCR, it has the ability to detect common microdeletion syndromes or additional aneuploidies, both of which may be easily missed despite excellent prenatal sonography. Thus, when BoBs™ is applied in the correct clinical setting and run and analyzed in appropriate laboratories this technique can improve and augment best practices with a personalization of prenatal care.

  11. Moderating effects of autism on parent views of genetic screening for aggression.

    Science.gov (United States)

    May, Michael E; Brandt, Rachel C; Bohannan, Joseph K

    2012-10-01

    Advances in gene-environment interaction research have revealed genes that are associated with aggression. However, little is known about parent perceptions of genetic screening for behavioral symptoms like aggression as opposed to diagnosing disabilities. These perceptions may influence future research endeavors involving genetic linkage studies to behavior, including proactive approaches for parents to avoid events leading to aggression. The purpose of this study was to solicit the perspectives of parents who have children with autism about screening for genes associated with aggression, compared to responses from those who have children without disabilities and those planning to have children. Parents of children with autism were more likely to support screening and the use of the results to seek treatment if necessary. Results are discussed in the context of surveillance screening and systematic early intervention for behavioral symptoms related to autism. The results may provide insight for clincians, researchers, policymakers, and advocacy groups related to diagnosing and treating aggression in people with autism.

  12. Analysis of 1 764 pregnant women for prenatal screening%1764例孕妇孕中期产前筛查结果分析

    Institute of Scientific and Technical Information of China (English)

    范崇梅; 骆建华; 樊卫

    2013-01-01

    目的 通过检测孕妇血清甲胎蛋白(AFP)、游离β-人绒毛膜促性腺激素(β-HCG)水平进行孕中期胎儿无创伤性产前筛查.方法 采用化学发光法对1 764例孕中期孕妇进行血清AFP、fβ-HCG定量检测,计算风险值.结果 1 764例孕妇唐氏综合征(DS)、爱德华氏综合征(ES)、先天性神经管缺陷(NTD)筛查阳性率分别为3.51%(62/1 764)、0.11%(2/1 764)、2.49%(44/1 764).在不同年龄的高风险分组中,大于或等于35岁组与其他组DS筛查阳性率差异有统计学意义(P<0.05),各年龄组NTD筛查阳性率无统计学差异(P>0.05).结论 产前筛查是一种无创伤性检测手段,对避免DS、ES、NTD患儿出生有重要意义.%Objective To perform non-invasive prenatal screening at the second trimester by detectingorfetoprotein(AFP) and free β-human chorionic gonadotrophin(β-HCG).Methods AFP and fβ-HCG of 1 764 pregnant women at the second trimester were detected by chemiluminescence and the risk value was calculated.Results Positive rates of Down's syndrome(DS),Edward's syn-drome(ES) and neural tube defects(NTD) were 3.51% (62/1 764), 0.11% (2/1 764) and 2.49% (44/1 764).In different age groups,the positive rate of DS in the group of at least 35 years old was higher than other groups(P0.05).Conclusion Prenatal screening could be a non-invasive detection methods and might be helpful for reducing the birth rate of DS,ES and NTD cases.

  13. Prenatal ultrasonic screening of fetuses with trisomy 18%18-三体综合征胎儿的产前超声筛查

    Institute of Scientific and Technical Information of China (English)

    栗河舟; 王铭; 许雅娟; 吴玥丽; 雷冬梅; 刘云; 李洁; 林杉; 孟繁凌

    2012-01-01

    目的:评价18三体综合征胎儿的超声表现特征和产前超声筛查的价值.方法:对羊膜腔穿刺或脐血管穿刺确诊为18-三体综合征的27例胎儿超声声像图进行分析.结果:27例18-三体胎儿均表现为胎儿结构异常,每例胎儿可检出四项及四项以上超声异常,最常见的超声改变是心脏畸形,共25例;其它常见的异常包括重叠指17例,单脐动脉11例,小下颌10例,上消化道梗阻9例,脉络丛囊肿及桡骨发育不良或缺如各8例,草莓头7例,小脑发育不良、小脑延髓池扩大、脐膨出及腕关节异常各6例,宫内生长受限11例,羊水过多19例.结论:超声检查是产前筛查18-三体综合征胎儿的有效手段.%Objective: To evaluate the characteristics of ultrasonic manifestations and value of prenatal ultrasonic screening for fetuses with trisomy 18. Methods: The ultrasonic images of 27 fetuses diagnosed as trisomy 18 definitely by amniocentesis and needle puncture of umbilical blood vessels were analyzed. Results; All the fetuses with trisomy 18 were found with fetal structural abnormality, each fetus was found with four kinds or more than four kinds of ultrasonic abnormalities, the most common ultrasonic abnormalities were cardiac abnormalities, which were found in 25 fetuses; the other common abnormalities included abnormal fingers overlap (17 fetuses) , single umbilical artery (11 fetuses) , micrognathia (10 fetuses) , upper gastrointestinal obstruction (9 fetuses) , choroid plexus cyst ( 8 fetuses) , dysplasia or absence of radius (8 fetuses) , strawberry head (7 fetuses) , cerebellar hypopksia (6 fetuses) , dilatation of cisterna magna (6 fetuses) , omphalocele (6 fetuses) , wrist abnormalities (6 fetuses) , intrauterine growth restriction (11 fetuses) , and polyhydramnios ( 19 fetuses) . Conclusion; Ultrasonographyis an effective method for prenatal screening of fetuses with trisomy 18.

  14. High Levels of Sample-to-Sample Variation Confound Data Analysis for Non-Invasive Prenatal Screening of Fetal Microdeletions.

    Directory of Open Access Journals (Sweden)

    Tianjiao Chu

    Full Text Available Our goal was to test the hypothesis that inter-individual genomic copy number variation in control samples is a confounding factor in the non-invasive prenatal detection of fetal microdeletions via the sequence-based analysis of maternal plasma DNA. The database of genomic variants (DGV was used to determine the "Genomic Variants Frequency" (GVF for each 50kb region in the human genome. Whole genome sequencing of fifteen karyotypically normal maternal plasma and six CVS DNA controls samples was performed. The coefficient of variation of relative read counts (cv.RTC for these samples was determined for each 50kb region. Maternal plasma from two pregnancies affected with a chromosome 5p microdeletion was also sequenced, and analyzed using the GCREM algorithm. We found strong correlation between high variance in read counts and GVF amongst controls. Consequently we were unable to confirm the presence of the microdeletion via sequencing of maternal plasma samples obtained from two sequential affected pregnancies. Caution should be exercised when performing NIPT for microdeletions. It is vital to develop our understanding of the factors that impact the sensitivity and specificity of these approaches. In particular, benign copy number variation amongst controls is a major confounder, and their effects should be corrected bioinformatically.

  15. Retrospective review of prenatal care and perinatal outcomes in a group of uninsured pregnant women.

    Science.gov (United States)

    Jarvis, Catherine; Munoz, Marie; Graves, Lisa; Stephenson, Randolph; D'Souza, Vinita; Jimenez, Vania

    2011-03-01

    To assess the adequacy of prenatal care and perinatal outcomes for uninsured pregnant women at two primary care centres in Canada. We conducted a retrospective case comparison study of uninsured women presenting for prenatal care between 2004 and 2007 (n = 71). Control subjects (n = 72) were chosen from provincially insured women presenting for prenatal care during the same period. A modified Kotelchuck Index was used to assess adequacy of care. Frequency of routine prenatal testing (blood tests, ultrasound, cervical swabs, Pap testing, and genetic screening) was compared. Perinatal outcomes assessed included gestational age and birth weight. Uninsured pregnant women presented for initial care 13.6 weeks later than insured women (at 25.6 weeks vs. 12.0 weeks, P care providers (6.6 vs. 10.7, P = 0.05). Using a modified Kotelchuck Adequacy of Prenatal Care Utilization Index, uninsured women were more likely to be categorized as receiving "inadequate care" (uninsured 61.9% vs. insured 11.7%, P care of uninsured pregnant women in Canada. Women in this category presented late for prenatal care, were less likely to have adequate screening tests, and were more likely to receive "inadequate care" as defined by the modified Kotelchuck Index. This information may be valuable in helping to plan programs to improve access to timely and adequate medical care for uninsured pregnant women.

  16. The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss

    Science.gov (United States)

    2013-01-01

    Objective: To explore the future potential of genetic screening to detect newborns at risk of childhood-onset hearing loss. Design: An expert led discussion of current and future developments in genetic technology and the knowledge base of genetic hearing loss to determine the viability of genetic screening and the implications for screening policy. Results and Discussion: Despite increasing pressure to adopt genetic technologies, a major barrier for genetic screening in hearing loss is the uncertain clinical significance of the identified mutations and their interactions. Only when a reliable estimate of the future risk of hearing loss can be made at a reasonable cost, will genetic screening become viable. Given the speed of technological advancement this may be within the next 10 years. Decision-makers should start to consider how genetic screening could augment current screening programmes as well as the associated data processing and storage requirements. Conclusion: In the interim, we suggest that decision makers consider the benefits of (1) genetically testing all newborns and children with hearing loss, to determine aetiology and to increase knowledge of the genetic causes of hearing loss, and (2) consider screening pregnant women for the m.1555A> G mutation to reduce the risk of aminoglycoside antibiotic-associated hearing loss. PMID:23131088

  17. Screening and genetic diagnosis of Hemoglobinopathies in Southern and Northern Europe: Two examples

    Directory of Open Access Journals (Sweden)

    Antonio Amato

    2009-08-01

    Full Text Available Prevention of Hemoglobinopathies has developed around the world based upon the experience done in pioneering endemic countries and is now facing a new phase in non-endemic areas with a recent immigration history. We describe two situations, taking Latium (central Italy and The Netherlands as two models for endemic and non-endemic countries both confronted with a large multi-ethnic immigrant society. We present prevention results and discuss aspects such as local knowledge and organization. We illustrate the importance of issues like information, carrier diagnostics, screening, counseling and prenatal diagnosis in particular situation of contrasting interest an different ethical opinions. We conclude by underlining the importance of implementing primary prevention at the European level, based upon better information, diagnostics and counseling.

  18. Impact of blastocyst biopsy and comprehensive chromosome screening technology on preimplantation genetic screening: a systematic review of randomized controlled trials.

    Science.gov (United States)

    Dahdouh, Elias M; Balayla, Jacques; García-Velasco, Juan Antonio

    2015-03-01

    Embryonic aneuploidy is highly prevalent in IVF cycles and contributes to decreased implantation rates, IVF cycle failure and early pregnancy loss. Preimplantation genetic screening (PGS) selects the most competent (euploid) embryos for transfer, and has been proposed to improve IVF outcomes. Use of PGS with fluorescence-in-situ hybridization technology after day 3 embryo biopsy (PGS-v1) significantly lowers live birth rates and is not recommended for use. Comprehensive chromosome screening technology, which assesses the whole chromosome complement, can be achieved using different genetic platforms. Whether PGS using comprehensive chromosome screening after blastocyst biopsy (PGS-v2) improves IVF outcomes remains to be determined. A systematic review of randomized controlled trials was conducted on PGS-v2. Three trials met full inclusion criteria, comparing PGS-v2 and routine IVF care. PGS-v2 is associated with higher clinical implantation rates, and higher ongoing pregnancy rates when the same number of embryos is transferred in both PGS and control groups. Additionally, PGS-v2 improves embryo selection in eSET practice, maintaining the same ongoing pregnancy rates between PGS and control groups, while sharply decreasing multiple pregnancy rates. These results stem from good-prognosis patients undergoing IVF. Whether these findings can be extrapolated to poor-prognosis patients with decreased ovarian reserve remains to be determined. Copyright © 2014 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

  19. A Forward Genetic Screening for Prostate Cancer Progression Genes

    Science.gov (United States)

    2012-10-01

    melanoma. Nature 436, 117‐122 (2005). 26. J.C. Cronin et al. Frequent mutations in the MITF pathway in melanoma.  Pigment   Cell Melanoma Res. 22, 435‐444... bacterial genetics. J Mol Biol 116: 125–159. 3. Ding S, Wu X, Li G, Han M, Zhuang Y, et al. (2005) Efficient transposition of the piggyBac (PB) transposon

  20. Clinical experience with single‐nucleotide polymorphism‐based non‐invasive prenatal screening for 22q11.2 deletion syndrome

    Science.gov (United States)

    Gross, S. J.; Stosic, M.; McDonald‐McGinn, D. M.; Bassett, A. S.; Norvez, A.; Dhamankar, R.; Kobara, K.; Kirkizlar, E.; Zimmermann, B.; Wayham, N.; Babiarz, J. E.; Ryan, A.; Jinnett, K. N.; Demko, Z.

    2016-01-01

    ABSTRACT Objectives To evaluate the performance of a single‐nucleotide polymorphism (SNP)‐based non‐invasive prenatal test (NIPT) for the detection of fetal 22q11.2 deletion syndrome in clinical practice, assess clinical follow‐up and review patient choices for women with high‐risk results. Methods In this study, 21 948 samples were submitted for screening for 22q11.2 deletion syndrome using a SNP‐based NIPT and subsequently evaluated. Follow‐up was conducted for all cases with a high‐risk result. Results Ninety‐five cases were reported as high risk for fetal 22q11.2 deletion. Diagnostic testing results were available for 61 (64.2%) cases, which confirmed 11 (18.0%) true positives and identified 50 (82.0%) false positives, resulting in a positive predictive value (PPV) of 18.0%. Information regarding invasive testing was available for 84 (88.4%) high‐risk cases: 57.1% (48/84) had invasive testing and 42.9% (36/84) did not. Ultrasound anomalies were present in 81.8% of true‐positive and 18.0% of false‐positive cases. Two additional cases were high risk for a maternal 22q11.2 deletion; one was confirmed by diagnostic testing and one had a positive family history. There were three pregnancy terminations related to screening results of 22q11.2 deletion, two of which were confirmed as true positive by invasive testing. Conclusions Clinical experience with this SNP‐based non‐invasive screening test for 22q11.2 deletion syndrome indicates that these deletions have a frequency of approximately 1 in 1000 in the referral population with most identifiable through this test. Use of this screening method requires the availability of counseling and other management resources for high‐risk pregnancies. © 2015 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd. on behalf of the International Society of Ultrasound in Obstetrics and Gynecology. PMID:26396068

  1. Effect of screening for cystic-fibrosis on the influence of genetic-counseling

    NARCIS (Netherlands)

    Dankert-Roelse, J E; te Meerman, G J; Knol, K; ten Kate, L P

    1987-01-01

    We studied the influence of genetic counseling for cystic fibrosis on family planning, using neonatal screening, family size at time of diagnosis, and maternal age as possible determinants for reproductive behaviour. The expected number of children born to mothers of equal age and parity in the same

  2. Neurological Condition of Infants Born After In Vitro Fertilization With Preimplantation Genetic Screening

    NARCIS (Netherlands)

    Middelburg, Karin J.; Heineman, Maas J.; Haadsma, Maaike L.; Bos, Arend F.; Kok, Joke H.; Hadders-Algra, Mijna

    2010-01-01

    Aim of this study was to evaluate the effect of preimplantation genetic screening (PGS) on neurodevelopmental outcome in children. We conducted a prospective follow-up Study of children born to women randomly assigned to in vitro fertilization with or without PGS. Primary outcome was adverse neurolo

  3. Screening of genetic parameters for soluble protein expression in Escherichia coli

    DEFF Research Database (Denmark)

    Vernet, Erik; Kotzsch, Alexander; Voldborg, Bjørn

    2011-01-01

    . Here we present a screening strategy for expression of biomedically relevant proteins in Escherichia coli using a panel of six different genetic variations. These include engineered strains for rare codon supplementation, increased disulfide bond formation in the cytoplasm and novel vectors...

  4. Incidental findings, genetic screening and the challenge of personalisation

    Directory of Open Access Journals (Sweden)

    Carlo Petrini

    2014-12-01

    Full Text Available Genetic tests frequently produce more information than is initially expected. Several documents have addressed this issue and offer suggestions regarding how this information should be managed and, in particular, concerning the expedience of revealing (or not revealing it to the persons concerned. While the approaches to the management of these incidental findings (IFs vary, it is usually recommended that the information be disclosed if there is confirmed clinical utility and the possibility of treatment or prevention. However, this leaves unsolved some fundamental issues such as the different ways of interpreting "clinical utility", countless sources of uncertainty and varying ways of defining the notion of "incidental". Guidelines and other reference documents can offer indications to those responsible for managing IFs but should not be allowed to relieve researchers and healthcare professionals of their responsibilities.

  5. CRISPR-Cas9 for medical genetic screens: applications and future perspectives.

    Science.gov (United States)

    Xue, Hui-Ying; Ji, Li-Juan; Gao, Ai-Mei; Liu, Ping; He, Jing-Dong; Lu, Xiao-Jie

    2016-02-01

    CRISPR-Cas9 (clustered regularly interspaced short palindromic repeats-CRISPR associated nuclease 9) systems have emerged as versatile and convenient (epi)genome editing tools and have become an important player in medical genetic research. CRISPR-Cas9 and its variants such as catalytically inactivated Cas9 (dead Cas9, dCas9) and scaffold-incorporating single guide sgRNA (scRNA) have been applied in various genomic screen studies. CRISPR screens enable high-throughput interrogation of gene functions in health and diseases. Compared with conventional RNAi screens, CRISPR screens incur less off-target effects and are more versatile in that they can be used in multiple formats such as knockout, knockdown and activation screens, and can target coding and non-coding regions throughout the genome. This powerful screen platform holds the potential of revolutionising functional genomic studies in the near future. Herein, we introduce the mechanisms of (epi)genome editing mediated by CRISPR-Cas9 and its variants, introduce the procedures and applications of CRISPR screen in functional genomics, compare it with conventional screen tools and at last discuss current challenges and opportunities and propose future directions.

  6. Genetic Screening of Couples with Recurrent Spontaneous Abortion

    Directory of Open Access Journals (Sweden)

    M. Nail Alp

    2006-01-01

    Full Text Available The aim of this study was to determine the chromosomal abberations and their incidence in non-consanguineous couples with a history of two or more than two spontaneous abortion. In the study, we carried out cytogenetic analysis on 434 couples. Patients detected with chromosome abnormality were evaluated according to their pedigree analysis, and also patients’ relatives were screened for the same abnormality. Peripheral blood were taken from patients, then performed with lymphocyte culture and stained by binded using Giemsa-banding method. For each individual, 20-30-cells chromosomes were counted and around 5-10 well-binded metaphase chromosomes were karyotyped for numerical and structural chromosomal aberrations. Of 434 couples investigated, 30 (6.91% were found to have chromosomal abnormality, in one of couples partners. In 13 of couples (2.99%, one of partners was found to be balanced translocation carrier. Of these, 7 (1.61%were found to be reciprocal carrier, while 6 (1.38% Robertsonian-type balanced translocation carrier. Gonadal mosaicism was found in 3 couples (0.69%, pericentric 9 inversion in 8 couples (1.85 %, while 6 couples showed different chromosomal structure from each other. These chromosomal aberrations may cause of abortion due to high incidence in general population.

  7. Genetic screening of the inherited Ichtyosis causative mutation in Chianina cattle

    Directory of Open Access Journals (Sweden)

    Luciano Molteni

    2010-01-01

    Full Text Available Inherited Ichthyosis, Chianina, Causative mutation, Genetic screening.Inherited Ichthyosis is a genetic disorder reported in both humans and animals, including bovines. Two inherited forms were reported in cattle and both are transmitted in an autosomal recessive manner: Ichthyosis Fetalis (IF and Ichthyosis Congenita (IC. A causative mutation of IF in Chianina cattle was recently indentified in the ABC12 gene. This work reports the first genetic screening using this recently available genetic test on Chianina cattle. Tests were performed on both the population of farm breeding selected young bulls (131 samples randomly chosen and high breeding value sires (16 samples. Results confirm a low total prevalence of carriers in the selected sire population (2/131; 1.5% and the presence of the disease allele among the high value selected sires (1/16; 6.3%. This result strengthens the importance to continue the genetic screening program, particularly in performance tested bulls approved for use in AI or natural service.

  8. Application of early prenatal systemic ultrasound screening in diagnosis of fetal deformity%早孕期超声筛查在胎儿结构畸形诊断中的应用

    Institute of Scientific and Technical Information of China (English)

    霍晓恺; 刘泰石; 解耀锃

    2016-01-01

    Objective To explore the clinical value of early prenatal systemic ultrasound screening in diagnosis of fetal deformity.Methods Sixty-four pregnant women who accepted prenatal ultrasound examination during 11 to 13 +6 gestational weeks in the Second People ’ s Hospital of Liaocheng City from May 2013 to May 2015 were selected to do the early prenatal ultrasound screening.Medium-term prenatal ultrasound was done among the cases of 22 -24 +6 weeks of pregnancy (continuous scan method), and the final results were tracked. Results The fetus deformity detection rates of early prenatal ultrasound screening and medium-term prenatal ultrasound in both groups were not obviously different (χ2 =1.03,P>1.03).Compared to the detection rates of single early prenatal ultrasound screening or single medium-term prenatal ultrasound, the deformity rate in the joint early prenatal ultrasound and medium-term prenatal ultrasound showed significant difference (χ2 =4.53,P<0.05; χ2 =5.39, P<0.05).There were 36 types of fetal structural deformity detected in early prenatal ultrasound.The top three were as follows: cervical cystic carcinoma and NT thickening ( 33.33%) , facial abnormality (25.00%), and anterior abdominal wall abnormality (11.11%).There were 42 types of fetal structural deformity detected in medium-term prenatal ultrasound.The top three were as follows: cardiovascular abnormalities (30.95%), facial abnormalities (21.43%), and central nervous system abnormalities (11.11%).In the results of systemic ultrasound screening in early and medium-term pregnancy, the distribution rates of all kinds of structural deformity were significantly different (χ2 value ranged 4.55 to 6.32, all P<0.05).Conclusion The detection rate of fetal structural deformity is higher in early prenatal systemic ultrasound screening which, however, cannot completely replace the medium-term ultrasound.The joint examination of early and medium-term prenatal ultrasound is suggested to improve the detection

  9. Control Prenatal

    National Research Council Canada - National Science Library

    P. Susana Aguilera, DRA; M.D. Peter Soothill, MR

    2014-01-01

    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...

  10. The Dianosis Value of Prenatal Ultrasound Screening Combined with Prenatal Maternal Serum Markers Detecting in Trimester Pregnancy for the 21 - trisomy Syndrome%中孕B超产前检查联合母血清标记物对21-三体综合征的临床诊断价值

    Institute of Scientific and Technical Information of China (English)

    李洁; 陈大雁; 胡桂朗; 荆志敏

    2011-01-01

    Objective: To explore the feasibility, effectiveness and necessity of the prenatal ultrasound screenings,combined with the content inspection of the mothers' prenatal maternal serum markers:in trimester pregnancy Alpha-fetoprotein ( AFP), free estriol ( uE3 ), total serum β human chorionic gonadotropin ( hCG) in the 21 -trisomy syndrome. Method: We summarized the detection rate of the 21 -trisomy syndrome by prenatal ultrasound screening and the prenatal maternal serum markers. Result: The detection rate in terms of the positive signs of the prenatal ultrasound screening in trimester pregnancy combined with the prenatal maternal serum markers in the 21-trisomy syndrome diagnosis was 80%-90%. Conclusion:The prenatal ultrasound screening in trimester pregnancy combined with prenatal maternal serum markers in the 21trisomy syndrome diagnosis is a non-invasive checking method, not only can reduce the abnormal or deformed children are born, can also reduce the invasive inspection; It has the davantage of clinically simple,application and testing of a wide range of safe and effective, cost-effective, with higher screening detection rate, and reduce the intrusion caused by the check normal fetal abortion rate.%目的:探讨中孕B超产前检查出现阳性征,及联合母体血清标记物指标:甲胎蛋白(AFP)、游离雌三醇(uE3)、血清总β绒毛膜促性腺激素(hCG)的含量检查对21-三体综合征的产前筛查和诊断的可行性、有效性和必要性.方法:回顾了中孕B超产前检查联合母血清标记物对21-三体综合征检出率.结果:中孕B超产前检查的阳性征,联合母体血清标记物检查指标对21三体综合征检出率高达80%-90%.结论:中孕超声检查,及联合母血清标记物进行唐氏综合征胎儿筛查是一种非侵入性的检查方法,不但可以减少异常或畸型儿童出生,提高人口素质,也可以减少侵入性的检查;且具有临床操作简便、应用范围和检验范围面广

  11. Analysis of 2 654 cases of non invasive prenatal genetic test results%2654例无创产前基因检测结果分析

    Institute of Scientific and Technical Information of China (English)

    冯暄; 闫有圣; 胡秀琴; 郝胜菊; 张庆华; 郑雷

    2016-01-01

    目的:探讨无创产前基因检测在胎儿染色体非整倍体疾病诊断中的临床应用价值。方法选择在该院行胎儿染色体非整倍体无创基因检测的单胎孕妇2654例,对孕妇外周血中游离DNA 进行高通量测序,对检测结果高风险者进行羊膜腔穿刺及胎儿染色体核型分析,对检测结果阴性者进行电话随访。结果2654例孕妇无创基因检测结果高风险29例,包括21‐三体14例,18‐三体6例,47,XXY 5例,45,XO 2例,常染色体异常1例,母体染色体异常1例。对29例高风险孕妇行羊膜腔穿刺羊水细胞染色体核型分析,结果显示21‐三体11例,18‐三体5例,性染色体异常4例。结论无创产前基因检测在诊断胎儿染色体非整倍体异常有较高的特异性和准确性,有较高的临床应用价值,但存在一定的假阳性,应掌握指征。%Objective To explore the clinical value of noninvasive prenatal genetic testing in diagnosis of fetal chromosomal non‐integral disease .Methods A total of 2 654 pregnant women receiving fetal chromosomal aneuploidy noninvasive prenatal genetic testing in the hospital were selected ,high‐throughput sequencing of free DNA in peripheral blood of pregnant women was conduc‐ted ,amniocentesis and fetal karyotyping were carried out among the high risk pregnant women ,the negative pregnant women were followed up by telephone .Results Among 2 654 pregnant women ,29 high risk pregnant women were found by noninvasive prenatal genetic testing ,including 14 cases with trisomy 21 ,6 cases with trisomy 18 ,5 cases with 47 ,XXY ,2 cases with 45 ,XO ,1 cases with abnormal chromosome ,1 cases with maternal chromosome abnormalities .29 cases of high‐risk pregnant women with amniotic fluid cell chromosome karyotype analysis ,the results show that 11 cases with trisomy 21 ,5 cases with trisomy 18 ,4 cases with sex chro‐mosome abnormalities .Conclusion Noninvasive prenatal genetic

  12. Role of thalassemia screening in prevention and control of thalassemia - a 5 year experience

    Directory of Open Access Journals (Sweden)

    Suman Lata Mendiratta

    2016-09-01

    Conclusions: Lack of awareness, late registration, husbands not coming/turning up for their test and and ldquo;at risk couples and rdquo; opting out of prenatal diagnosis are the cause of thalassemia major births which can be prevented if awareness is generated amongst masses, screening and prenatal genetic diagnosis services are made widely available. [Int J Reprod Contracept Obstet Gynecol 2016; 5(9.000: 3107-3111

  13. 213个遗传性耳聋家庭的产前诊断和生育指导%Prenatal genetic test and clinical guidance for 213 hereditary deaf families

    Institute of Scientific and Technical Information of China (English)

    韩明昱; 戴朴; 卢彦平; 边旭明; 汪龙霞; 黄莎莎; 王国建; 王毅; 康东洋; 张昕

    2012-01-01

    test twice,and one family received three times. 46 times of prenatal testing showed that the fetuses carried parental mutations simultaneously or the same mutations with probands ; while 180 times of prenatal test showed that the fetuses carried only one parental mutation or did not carry any mutation from parents.The following visit showed that all of these 180 families had given birth to babies who were all revealed to have normal hearing by new born hearing screening test.Conclusions Prenatal diagnosis for deafness assisted by genetic test can provide efficient information about offspring's hearing condition,and the normative workflow and precise strategy highy guarantee the safe and favorable implementation of prental diagnosis.%目的 通过回顾遗传性耳聋家庭产前诊断的临床实践,总结耳聋产前诊断的相关流程策略与经验.方法 2005年7月至2011年4月,213个耳聋家庭参加研究.其中,205个家庭已生育1个耳聋患儿,除1个家庭妻子为听力正常个体而丈夫为耳聋患者外,其余204个家庭的父母均听力正常;8个家庭为首次生育,包括2个耳聋夫妇家庭.除了1个家庭是经家系研究确定为POU3F4c.647G >A杂合突变导致X伴性耳聋外,其余212个家庭均行常见耳聋基因检测,包括GJB2、SLC26A4分析和线粒体基因(mtDNA) 12S rRNA检测,明确分子病因和后代再发风险.接受产前诊断时,母亲妊娠11 ~30周,根据妊娠时间,行适当的产前诊断取材并提取胎儿DNA,测定胎儿基因型,预测胎儿听力状态.结果 后代再发风险为25%的家庭共209个,其中,再生育家庭204个,先证者均为GJB2或SLC26A4纯合或复合突变,父母均为相同基因GJB2或SLC26A4突变携带者;5个首次生育家庭中的夫妇同为GJB2或SLC26A4突变携带者.后代再发风险为50%的家庭共3个,1个家庭先证者及父亲均为SLC26A4复合突变,母亲为SLC26A4突变携带者;1个家庭妻子为POU3F4突变携带者;1个家庭

  14. 台州地区202677例孕中期产前筛查及随访结果分析%Prenatal screening in Taizhou area

    Institute of Scientific and Technical Information of China (English)

    干灵红; 许惠惠; 章鸯; 伍霞芳; 刘佳媚; 石卫武

    2013-01-01

    目的:探讨孕中期二联法产前筛查对胎儿出生缺陷监测的作用,并了解浙江省台州地区孕中期孕妇唐氏综合征(DS)、18-三体综合征、神经管缺陷(NTD)及其他缺陷发生率.方法:采用时间分辨免疫荧光分析法检测202677例孕中期孕妇血清标志物甲胎蛋白(AFP)和人绒毛膜促性腺激素(游离β-hCG),通过Multicalc和Risks2T风险评估软件进行风险评估.采用产前羊膜腔染色体检查以及诊断性B超进行确诊,并追踪妊娠结局.结果:202677例孕妇中,筛查出高风险孕妇7746例,阳性率3.82%.高风险孕妇中确诊DS66例、18-三体23例、NTD62例和其他染色体异常89例.低风险孕妇中随访到DS漏检18例,18-三体漏检2例和其他染色体异常5例和其他出生缺陷54例.两组比较差异有统计学意义(P<0.01).结论:产前筛查和诊断是降低出生缺陷率的有效措施,加强随访能够更好的指导优生工作.%Objective:To evaluate the effectiveness of duplex process prenatal screening in detecting the fetus's chro-mosomal abnormalities and neural tube defect at midterm pregnancy.Methods:A total of 202677 mid-pregnant women were tested for the concentrations of serum AFP and free-β HCG with time-resolved immunofluorescence technique.Final diagnosis was confirmed by 3D-ultrasound and chromosome examination of amniotic fluid cell or allantoic venous blood cells.The diagnostic results were compared with the follow-up outcome of the pregnancies.Results:Seven thousand,seven hundred and forty-six mid-pregnant women were classified as a high risk group,from which 66 babies were born with disease of DS,23 with Edwards syndrome,sixty-two cases with neural tube defect (NTD) and eighty-nine cases with other chromosomal abnormalities,respectively.Only 18 babies with disease of DS,two cases with Edwards syndrome,five cases with other chromosomal abnormalities and 54 cases with other defects were found from low risk pregnant women.Conclusion:Prenatal

  15. A post-developmental genetic screen for zebrafish models of inherited liver disease.

    Directory of Open Access Journals (Sweden)

    Seok-Hyung Kim

    Full Text Available Nonalcoholic fatty liver disease (NAFLD is one of the most common causes of chronic liver disease such as simple steatosis, nonalcoholic steatohepatitis (NASH, cirrhosis and fibrosis. However, the molecular pathogenesis and genetic variations causing NAFLD are poorly understood. The high prevalence and incidence of NAFLD suggests that genetic variations on a large number of genes might be involved in NAFLD. To identify genetic variants causing inherited liver disease, we used zebrafish as a model system for a large-scale mutant screen, and adopted a whole genome sequencing approach for rapid identification of mutated genes found in our screen. Here, we report on a forward genetic screen of ENU mutagenized zebrafish. From 250 F2 lines of ENU mutagenized zebrafish during post-developmental stages (5 to 8 days post fertilization, we identified 19 unique mutant zebrafish lines displaying visual evidence of hepatomegaly and/or steatosis with no developmental defects. Histological analysis of mutants revealed several specific phenotypes, including common steatosis, micro/macrovesicular steatosis, hepatomegaly, ballooning, and acute hepatocellular necrosis. This work has identified multiple post-developmental mutants and establishes zebrafish as a novel animal model for post-developmental inherited liver disease.

  16. A post-developmental genetic screen for zebrafish models of inherited liver disease.

    Science.gov (United States)

    Kim, Seok-Hyung; Wu, Shu-Yu; Baek, Jeong-In; Choi, Soo Young; Su, Yanhui; Flynn, Charles R; Gamse, Joshua T; Ess, Kevin C; Hardiman, Gary; Lipschutz, Joshua H; Abumrad, Naji N; Rockey, Don C

    2015-01-01

    Nonalcoholic fatty liver disease (NAFLD) is one of the most common causes of chronic liver disease such as simple steatosis, nonalcoholic steatohepatitis (NASH), cirrhosis and fibrosis. However, the molecular pathogenesis and genetic variations causing NAFLD are poorly understood. The high prevalence and incidence of NAFLD suggests that genetic variations on a large number of genes might be involved in NAFLD. To identify genetic variants causing inherited liver disease, we used zebrafish as a model system for a large-scale mutant screen, and adopted a whole genome sequencing approach for rapid identification of mutated genes found in our screen. Here, we report on a forward genetic screen of ENU mutagenized zebrafish. From 250 F2 lines of ENU mutagenized zebrafish during post-developmental stages (5 to 8 days post fertilization), we identified 19 unique mutant zebrafish lines displaying visual evidence of hepatomegaly and/or steatosis with no developmental defects. Histological analysis of mutants revealed several specific phenotypes, including common steatosis, micro/macrovesicular steatosis, hepatomegaly, ballooning, and acute hepatocellular necrosis. This work has identified multiple post-developmental mutants and establishes zebrafish as a novel animal model for post-developmental inherited liver disease.

  17. Frequency of chromosomal aneuploidy in high quality embryos from young couples using preimplantation genetic screening

    Directory of Open Access Journals (Sweden)

    Farzaneh Fesahat

    2017-09-01

    Full Text Available Background: Selection of the best embryo for transfer is very important in assisted reproductive technology (ART. Using morphological assessment for this selection demonstrated that the correlation between embryo morphology and implantation potential is relatively weak. On the other hand, aneuploidy is a key genetic factor that can influence human reproductive success in ART. Objective: The aim of this lab trial study was to evaluate the incidence of aneuploidies in five chromosomes in the morphologically high-quality embryos from young patients undergoing ART for sex selection. Materials and Methods: A total of 97 high quality embryos from 23 women at the age of 37or younger years that had previously undergone preimplantation genetic screening for sex selection were included in this study. After washing, the slides of blastomeres from embryos of patients were reanalyzed by fluorescence in-situ hybridization for chromosomes 13, 18 and 21. Results: There was a significant rate of aneuploidy determination in the embryos using preimplantation genetic screening for both sex and three evaluated autosomal chromosomes compared to preimplantation genetic screening for only sex chromosomes (62.9% vs. 24.7%, p=0.000. The most frequent detected chromosomal aneuploidy was trisomy or monosomy of chromosome 13. Conclusion: There is considerable numbers of chromosomal abnormalities in embryos generated in vitro which cause in vitro fertilization failure and it seems that morphological characterization of embryos is not a suitable method for choosing the embryos without these abnormalities

  18. NON-INVASIVE PRENATAL DIAGNOSIS: A REVIEW

    Directory of Open Access Journals (Sweden)

    Madhusudan Dey, Sumita Agarwal and Sumedha Sharma

    2013-04-01

    Full Text Available ABSTRACT: Aneuploidies are one of the important causes of perinatal morbidity and mortality. Initially screening for aneuploidies started with maternal age risk estimation. Later on, serum testing for biochemical markers and ultrasound markers were added. Women detected to be at high risk for aneuploidies were offered invasive testing. Recently, various methods including non-invasive prenatal testing (NIPT by analysis of cell-free fetal DNA (cffDNA in maternal blood has shown promise for highly accurate detection of common fetal autosomal trisomies. Incorporating these new non-invasive technologies into clinical practice will impact the current prenatal screening paradigm for fetal aneuploidy, in which genetic counselling plays an integral role. The advantage of the technique being elimination of risks such as miscarriage associated with invasive diagnostic procedures. But then this new technique has its own set of technical limitations and ethical issues at present and further research is required before implementation. Data was obtained through a literature search via Pubmed and Google as well as detailed search of our library database.

  19. Human prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    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.

  20. Preimplantation Genetic Screening: An Effective Testing for Infertile and Repeated Miscarriage Patients?

    Directory of Open Access Journals (Sweden)

    Ning Wang

    2010-01-01

    Full Text Available Aneuploidy in pregnancy is known to increase with advanced maternal age (AMA and associate with repeated implantation failure (RIF, and repeated miscarriage (RM. Preimplantation genetic screening (PGS has been introduced into clinical practice, screening, and eliminating aneuploidy embryos, which can improve the chance of conceptions for infertility cases with poor prognosis. These patients are a good target group to assess the possible benefit of aneuploidy screening. Although practiced widely throughout the world, there still exist some doubts about the efficacy of this technique. Recent randomized trials were not as desirable as we expected, suggesting that PGS needs to be reconsidered. The aim of this review is to discuss the efficacy of PGS.

  1. Statement of The American Society of Human Genetics on cystic fibrosis carrier screening

    Energy Technology Data Exchange (ETDEWEB)

    1992-12-01

    The identification in 1989 of the cystic fibrosis (CF) gene and its most common mutation immediately raised the possibility of CF carrier detection by DNA analysis. The American Society of Human Genetics (ASHG) issued a statement recommending that CF carrier testing should be made available to individuals with a family history of CF. It was also stated that screening of individuals or couples in the general population should not be offered until the rate of CF carrier detection improves. An additional prerequisite emphasized the need for the establishment of effective educational and counseling programs consistent with previous widely accepted principles. An NIH workshop reached similar conclusions. ASHG recommendations are that screening be limited to individuals with a family history of CF, testing should be accompanied by education and counseling, screening should be voluntary and confidential with appropriate laboratory quality controls, and efforts should be expanded to educate health care providers and the public.

  2. Prenatal famine and genetic variation are independently and additively associated with DNA methylation at regulatory loci within IGF2/H19.

    Directory of Open Access Journals (Sweden)

    Elmar W Tobi

    Full Text Available Both the early environment and genetic variation may affect DNA methylation, which is one of the major molecular marks of the epigenome. The combined effect of these factors on a well-defined locus has not been studied to date. We evaluated the association of periconceptional exposure to the Dutch Famine of 1944-45, as an example of an early environmental exposure, and single nucleotide polymorphisms covering the genetic variation (tagging SNPs with DNA methylation at the imprinted IGF2/H19 region, a model for an epigenetically regulated genomic region. DNA methylation was measured at five differentially methylated regions (DMRs that regulate the imprinted status of the IGF2/H19 region. Small but consistent differences in DNA methylation were observed comparing 60 individuals with periconceptional famine exposure with unexposed same-sex siblings at all IGF2 DMRs (P(BH<0.05 after adjustment for multiple testing, but not at the H19 DMR. IGF2 DMR0 methylation was associated with IGF2 SNP rs2239681 (P(BH = 0.027 and INS promoter methylation with INS SNPs, including rs689, which tags the INS VNTR, suggesting a mechanism for the reported effect of the VNTR on INS expression (P(BH = 3.4 × 10(-3. Prenatal famine and genetic variation showed similar associations with IGF2/H19 methylation and their contributions were additive. They were small in absolute terms (<3%, but on average 0.5 standard deviations relative to the variation in the population. Our analyses suggest that environmental and genetic factors could have independent and additive similarly sized effects on DNA methylation at the same regulatory site.

  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 ...... to differences in screening policies as well as organizational and cultural factors.European Journal of Human Genetics advance online publication, 25 August 2010; doi:10.1038/ejhg.2010.148....

  4. 血清学结合超声检查在非整倍体产前筛查中的应用%Application of serologic examination combined with ultrasonography in prenatal screening of aneuploidy

    Institute of Scientific and Technical Information of China (English)

    吴清明; 周瑾; 刘伟; 王瑞; 杨柳

    2011-01-01

    Objective: To explore the application values of serologic examination combined with ultrasonography in prenatal screening of fetal aneuploidy. Methods: Maternal serologic triple examination ( AFP, Free β - hCG and uE3 ) during the second trimester of pregnancy combined with fetal systematical ultrasonography was used for prenatal screening of fetal chromosomal aneuploidy among 1 831 pregnant women of 16 ~ 25 gestational weeks, the pregnant women with high risk of prenatal screening received chromosomal karyotype analysis of amniotic cells. Results: Among 1 831 pregnant women, 107 high risk cases were screened out, including 98 high risk cases of serologic screening, 9 cases with abnormal fetuses detected by ultrasonography, 2 cases diagnosed as Down's syndrome and 2 cases diagnosed as trisomy 18 definitely by chromosomal analysis of amniotic cells. Conclusion: The prenatal screening programme of serologic triple examination during the second trimester of pregnancy combined with fetal systematical ultrasonography can expand the coverage extent of screening objects, reduce misdiagnosis and missed diagnosis, increase the detection rate of fetal chromosomal aneuploidy effectively, which is a simple, minimally invasive and effective prenatal screening protocol.%目的:探讨血清学结合超声在胎儿非整倍体产前筛查中的应用价值.方法:采用孕中期孕母血清学三联(AFP、Freeβ-hCG、uE3)检测结介胎儿系统超声检查,对1 831例孕16~25周孕妇进行胎儿非整倍体染色体病产前筛查,对筛查高风险孕妇,进行羊水细胞染色体核型分析.结果:1 831例孕妇中筛查出高危孕妇107例,其中血清学筛查高危孕妇98例,超声检查胎儿异常9例,经羊水细胞染色体分析产前诊断确诊唐氏综合征2例、18-三体综合征2例.结论:孕中期血清三联筛查结合胎儿系统超声检查的产前筛查方案,可扩大筛查目标的涵盖范围,减少漏诊及误诊;有效提高胎儿非整

  5. An Analysis on the Relationship Between Prenatal Screening Results and Age, Body Weight, Gestational Weeks%简析产前筛查结果和年龄、体质量及孕周的关系

    Institute of Scientific and Technical Information of China (English)

    王子桂

    2015-01-01

    目的:研究产前筛查结果与年龄、体质量和孕周的关系。方法选取1800例孕妇进行研究,利用风险评估软件系统检测孕妇是否存在高风险。结果唐氏综合征风险值和爱德华氏综合征风险值与年龄和体质量有关,开放性神经管缺陷(OSB)风险值与体质量和孕周有关。结论在产前筛查时需避免相关影响因素,保证筛查准确性。%Objective To study the relationship between prenatal screening results and age, body weight, gestational weeks.Methods1800 pregnant women were selected, and determined whether have high risk using the software system of risk assessment.Results Risk value of Down's syndrome and Edward's syndrome were related to age and body mass, the risk value of open neural tube defects (OSB) was associated with body mass and pregnant weeks.Conclusion It is need to avoid related factors in prenatal screening so as to ensure the accuracy of screening.

  6. Large genetic screens for gynogenesis and androgenesis haploid inducers in Arabidopsis thaliana failed to identify mutants

    Directory of Open Access Journals (Sweden)

    Virginie ePortemer

    2015-03-01

    Full Text Available Gynogenesis is a process in which the embryo genome originates exclusively from female origin, following embryogenesis stimulation by a male gamete. In contrast, androgenesis is the development of embryos that contain only the male nuclear genetic background. Both phenomena are of great interest in plant breeding as haploidisation is an efficient tool to reduce the length of breeding schemes to create varieties. Although few inducer lines have been described, the genetic control of these phenomena is poorly understood. We developed genetic screens to identify mutations that would induce gynogenesis or androgenesis in Arabidopsis thaliana. The ability of mutant pollen to induce either gynogenesis or androgenesis was tested by crossing mutagenized plants as males. Seedlings from these crosses were screened with recessive phenotypic markers, one genetically controlled by the female genome and another by the male genome. Positive and negative controls confirmed the unambiguous detection of both gynogenesis and androgenesis events. This strategy was applied to 1,666 EMS-mutagenised lines and 47 distant Arabidopsis strains. While an internal control suggested that the mutagenesis reached saturation, no gynogenesis or androgenesis inducer was found. However, spontaneous gynogenesis was observed at a frequency of 1/10,800. Altogether, these results suggest that no simple EMS-induced mutation in the male genome is able to induce gynogenesis or androgenesis in Arabidopsis.

  7. 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…

  8. Correlation analysis of 1206 cases of birth defects in prenatal screening and diagnosis%1206例出生缺陷产前筛查及产前诊断的相关情况分析

    Institute of Scientific and Technical Information of China (English)

    李东海

    2012-01-01

    OBJECTIVE To know the prenatal screening and diagnosis for maternal and infant health care sector, to provide reference for establishing corresponding prevention countermeasures. METHODS Selected a total of 1 206 infants with birth defect during the years of 2008-2011 in our hospital, retrospectively analyzed the prenatal screening and prenatal diagnosis results of birth defects, comparatively analyzed the ratio in different regions without prenatal screening. RESULTS The positive cases in antenatal screening accounted for 33.4% (403/1 206), positive in prenatal diagnosis accounted for 28.8% (347/ 1 206) , without prenatal screening accounted for 9.8% (118/1 206). Interim malformations induced accounted for 25.2% (304/1 206). The first 5 causes of prenatal diagnosis of defect were as follows: neural tube defects, congenital heart disease, cleft lip, chromosomal abnormalities and strephenopodia. The first 5 causes of defect was total 295 cases, proportion of 85.1%, which were as follows; 364 cases with congenital heart disease (53.1%) , ear deformity in 79 cases (11.5%) , cleft lip in 75 cases (10.9%), cryptorchidism in 62 cases (9.1%) , polydactyly in 49 patients (7.2%). The constituent ratio that without prenatal screening (1.4%) in towns was significant lower than in countries (15.4%) (P < 0.05). CONCLUSION In order to reduce the incidence of birth defects, it should strengthen exploration on limbs and features of five sense organs in prenatal screening and diagnosis, can not only concern about the value of screening, and ignore the importance of antenatal diagnosis.%目的 为了解本地区产前筛查及产前诊断状况,给妇婴保健部门制定相应的预防对策提供参考.方法 选择2008 ~2011年期间某院分娩的出生缺陷儿,共计1206例,回顾分析出出生缺陷儿产前筛查与产前诊断结果,对照分析不同区域未进行产前筛查者构成比.结果 产前筛查阳性者占33.4% (403/1206),产前诊断阳性者占28.8

  9. Screening of herbal extracts influencing hematopoiesis and their chemical genetic effects in embryonic zebrafish

    Institute of Scientific and Technical Information of China (English)

    Rajaretinam Rajesh Kannan; Samuel Gnana Prakash Vincent

    2012-01-01

    Objective: To screen the herbal extracts influencing the hematopoietic stem cells (HSC) in zebrafish embryos and their chemical genetic effects. Methods: The herbals used in this study had been widely applicable in Siddha medicines in South India. Herbal extracts were treated in zebrafish embryos at 4 d post fertilization and the extracts inducing the HSC were enumerated in hemocytometer. The biocompatibility and the organogenesis of the screened extracts were assessed in the zebrafish embryos for their chemical genetic effects. The LC50 values were calculated with their parallel control. The blood cells were enumerated. Results: The level of RBC was found increased in the Bergera koenigii (B. koenigii) at 15 μg/mL (P<0.05), Mimosa pudica (M. pudica) at 20 μg/mL (P<0.05) and Solanum trilobatum (S. trilobatum) at 25 μg/mL (P<0.05) and decreased RBC level was found in Phyllanthus niruri (P. niruri) at 30 μg/mL (P<0.05). The WBC count was found increased in S. trilobatum at 20 μg/mL (P<0.05) and Annona muricata (Annona muricata) at 15 μg/mL (P<0.05) and the Vitis quadrangularis (V. quadrangularis) at 20 μg/mL (P<0.05) decreased the WBC level. There were no notable effects in heart beats and the chemical genetic effects were observed at higher concentration of the extract resulting in Pericardial bulging, trunk tail flexure with heart edema, fin fold deformities etc. Conclusions: This in vivo based screening of Hematopoiesis is an inexpensive assay to screen herbal compounds and found that S. trilobatum extract influenced embryonic HSC in zebrafish, which could be a therapeutic for blood related disorders.

  10. A genetic screen in Drosophila reveals novel cytoprotective functions of the autophagy-lysosome pathway.

    Directory of Open Access Journals (Sweden)

    Andrew M Arsham

    Full Text Available The highly conserved autophagy-lysosome pathway is the primary mechanism for breakdown and recycling of macromolecular and organellar cargo in the eukaryotic cell. Autophagy has recently been implicated in protection against cancer, neurodegeneration, and infection, and interest is increasing in additional roles of autophagy in human health, disease, and aging. To search for novel cytoprotective features of this pathway, we carried out a genetic mosaic screen for mutations causing increased lysosomal and/or autophagic activity in the Drosophila melanogaster larval fat body. By combining Drosophila genetics with live-cell imaging of the fluorescent dye LysoTracker Red and fixed-cell imaging of autophagy-specific fluorescent protein markers, the screen was designed to identify essential metazoan genes whose disruption causes increased flux through the autophagy-lysosome pathway. The screen identified a large number of genes associated with the protein synthesis and ER-secretory pathways (e.g. aminoacyl tRNA synthetases, Oligosaccharyl transferase, Sec61alpha, and with mitochondrial function and dynamics (e.g. Rieske iron-sulfur protein, Dynamin-related protein 1. We also observed that increased lysosomal and autophagic activity were consistently associated with decreased cell size. Our work demonstrates that disruption of the synthesis, transport, folding, or glycosylation of ER-targeted proteins at any of multiple steps leads to autophagy induction. In addition to illuminating cytoprotective features of autophagy in response to cellular damage, this screen establishes a genetic methodology for investigating cell biological phenotypes in live cells, in the context of viable wild type organisms.

  11. Identification of common genetic modifiers of neurodegenerative diseases from an integrative analysis of diverse genetic screens in model organisms

    Directory of Open Access Journals (Sweden)

    Chen Xi

    2012-02-01

    Full Text Available Abstract Background An array of experimental models have been developed in the small model organisms C. elegans, S. cerevisiae and D. melanogaster for the study of various neurodegenerative diseases including Alzheimer's disease, Parkinson's disease, and expanded polyglutamine diseases as exemplified by Huntington's disease (HD and related ataxias. Genetic approaches to determine the nature of regulators of the disease phenotypes have ranged from small scale to essentially whole genome screens. The published data covers distinct models in all three organisms and one important question is the extent to which shared genetic factors can be uncovered that affect several or all disease models. Surprisingly it has appeared that there may be relatively little overlap and that many of the regulators may be organism or disease-specific. There is, however, a need for a fully integrated analysis of the available genetic data based on careful comparison of orthologues across the species to determine the real extent of overlap. Results We carried out an integrated analysis using C. elegans as the baseline model organism since this is the most widely studied in this context. Combination of data from 28 published studies using small to large scale screens in all three small model organisms gave a total of 950 identifications of genetic regulators. Of these 624 were separate genes with orthologues in C. elegans. In addition, 34 of these genes, which all had human orthologues, were found to overlap across studies. Of the common genetic regulators some such as chaperones, ubiquitin-related enzymes (including the E3 ligase CHIP which directly links the two pathways and histone deacetylases were involved in expected pathways whereas others such as the peroxisomal acyl CoA-oxidase suggest novel targets for neurodegenerative disease therapy Conclusions We identified a significant number of overlapping regulators of neurodegenerative disease models. Since the diseases

  12. Missouri Mothers and Their Children: A Family Study of the Effects of Genetics and the Prenatal Environment.

    Science.gov (United States)

    Knopik, Valerie S; Heath, Andrew C; Marceau, Kristine; Palmer, Rohan H C; McGeary, John E; Todorov, Alexandre; Evans, Allison Schettini

    2015-10-01

    The Missouri Mothers and Their Children Study (MO-MATCH) was specifically designed to critically investigate prenatal environmental influences on child attention problems and associated learning and cognitive deficits. The project began as a pilot study in 2004 and was formally launched in 2008. Participants in the study were initially identified via the Department of Vital Statistics birth record (BR) database. Interview and lab-based data were obtained from: (1) mothers of Missouri-born children (born 1998-2005), who smoked during one pregnancy but not during another pregnancy; (2) biological fathers when available; and (3) the children (i.e., full sibling pairs discordant for exposure to maternal smoking during pregnancy (SDP). This within-mother, between-pregnancy contrast provides the best possible methodological control for many stable maternal and familial confounding factors (e.g., heritable and socio-demographic characteristics of the mother that predict increased probability of SDP). It also controls for differences between mothers who do and do not smoke during pregnancy, and their partners, that might otherwise artifactually create, or alternatively mask, associations between SDP and child outcomes. Such a design will therefore provide opportunities to determine less biased effect sizes while also allowing us to investigate (on a preliminary basis) the possible contribution of paternal or other second-hand smoke exposure during the pre, peri, and postnatal periods to offspring outcome. This protocol has developed a cohort that can be followed longitudinally through periods typically associated with increased externalizing symptoms and substance used initiation.

  13. First trimester diagnosis and screening for fetal aneuploidy.

    Science.gov (United States)

    Driscoll, Deborah A; Gross, Susan J

    2008-01-01

    Maternal serum screening for neural tube defects and fetal aneuploidy in the second trimester has been incorporated into obstetrical practice over the past two decades. Now, as a result of several multicenter trials, first trimester screening between 11 and 14 weeks has been shown to be an effective and reliable screening test for Down syndrome and trisomy 18. Benefits of first trimester screening include earlier identification of the pregnancy at risk for fetal aneuploidy and anatomic defects, in particular, cardiac anomalies, and the option of earlier diagnosis by chorionic villus sampling, if available. This policy updates the American College of Medical Genetics policy statement entitled Second Trimester Maternal Serum Screening for Fetal Open Neural Tube Defects and Aneuploidy (2004) and complements the sections of American College of Medical Genetic's Standards and Guidelines for Clinical Genetics Laboratories entitled "Prenatal screening for Down syndrome that includes first trimester biochemistry and/or ultrasound measurements."

  14. A genetic screen to isolate Toxoplasma gondii host-cell egress mutants.

    Science.gov (United States)

    Coleman, Bradley I; Gubbels, Marc-Jan

    2012-02-08

    The widespread, obligate intracellular, protozoan parasite Toxoplasma gondii causes opportunistic disease in immuno-compromised patients and causes birth defects upon congenital infection. The lytic replication cycle is characterized by three stages: 1. active invasion of a nucleated host cell; 2. replication inside the host cell; 3. active egress from the host cell. The mechanism of egress is increasingly being appreciated as a unique, highly regulated process, which is still poorly understood at the molecular level. The signaling pathways underlying egress have been characterized through the use of pharmacological agents acting on different aspects of the pathways. As such, several independent triggers of egress have been identified which all converge on the release of intracellular Ca(2+), a signal that is also critical for host cell invasion. This insight informed a candidate gene approach which led to the identification of plant like calcium dependent protein kinase (CDPK) involved in egress. In addition, several recent breakthroughs in understanding egress have been made using (chemical) genetic approaches. To combine the wealth of pharmacological information with the increasing genetic accessibility of Toxoplasma we recently established a screen permitting the enrichment for parasite mutants with a defect in host cell egress. Although chemical mutagenesis using N-ethyl-N-nitrosourea (ENU) or ethyl methanesulfonate (EMS) has been used for decades in the study of Toxoplasma biology, only recently has genetic mapping of mutations underlying the phenotypes become routine. Furthermore, by generating temperature-sensitive mutants, essential processes can be dissected and the underlying genes directly identified. These mutants behave as wild-type under the permissive temperature (35 °C), but fail to proliferate at the restrictive temperature (40 °C) as a result of the mutation in question. Here we illustrate a new phenotypic screening method to isolate mutants

  15. PRENATAL DIAGNOSIS IN ORGANIC ACIDEMIA

    Directory of Open Access Journals (Sweden)

    Hedieh SANEIFARD

    2012-03-01

    Full Text Available Organic acidemias are the group of metabolic disorders which define by high anion gap metabolic acidosis, hypo or hyperglycemia & hyperammonemia.Because of the severity of disease in children and its fatality in severe form of disease and also need for life long treatment, prenatal diagnosis is an important diagnostic tool.Three approaches to prenatal diagnosis may be possible, including measurement of analytes in amniotic fluid or use of cells obtained by Choronic Villus sampling (CVS or amniocentesis to either assay enzyme activity or extract DNA for molecular genetic testing.Biochemical genetic testing: Prenatal diagnosis for pregnancies at increased risk for propionic acidemia, methylmalonic acidemia, biotin-unresponsive3-methylcrotonyl-CoA carboxylase deficiency, glutaric acidemia type 1, ketothiolase deficiency, methylmalonic aciduria and homocystinuria, cblC type, and isovaleric acidemia is possible by analysis of amniotic fluid if highly accurate quantitative methods are used to measure the appropriate analytes. Amniocentesis is usually performed at approximately 15 to 18 weeks gestation.Prenatal diagnosis for pregnancies at increased risk for MSUD is possible by measurement of enzyme activity in fetal cells obtained by chorionic villous sampling(CVS at approximately ten to 12 weeks gestation or amniocentesis usually performed at approximately 15 to 18 weeks gestation.(If cells from CVS are used, extreme care must be taken to assure that they are fetal rather than maternal cells.Molecular genetic testing:Prenatal diagnosis for pregnancies at increased risk for all disorders is possible by analysis of DNA extracted from fetal cells obtained by amniocentesis usually performed at approximately 15 to 18 weeks of gestation or chorionic villous sampling (CVS at approximately ten to 12 weeks of gestation. Both disease-causing allels of an affected family member must be identified before prenatal testing.Preimplantation genetic diagnosis (PGD

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

    Institute of Scientific and Technical Information of China (English)

    刘智霞

    2015-01-01

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

  17. Cystic fibrosis heterozygote screening in 5,161 pregnant women

    Energy Technology Data Exchange (ETDEWEB)

    Witt, D.R.; Hallam, P.; Blumberg, B.; Fishbach, A. [Kaiser Permanente Medical Care Program of Northern California, San Jose, CA (United States)] [and others

    1996-04-01

    A screening program for cystic fibrosis (CF) heterozygotes was conducted in a large HMO prenatal population, to evaluate the level of interest among eligible patients, the effectiveness of prescreening education, attitudes toward the screening process, psychological effects, and utilization of prenatal diagnosis and its outcomes. The heterozygote identification rate and frequency of specific CFTR mutations were also assessed. Identified carriers were offered genetic counseling and testing of male partners. Prenatal diagnosis was offered if both partners were identified as carriers. A total of 5,161 women underwent carrier testing; 947 others completed survey instruments only. The acceptance rate of screening was high (78%), and pretest education by videotape was generally effective. Adverse psychological effects were not reported. Participants generally found screening to be desirable and useful. Screening identified 142 female heterozygotes, 109 couples in which the male partner was not a carrier, and 7 high-risk couples. The incidence of R117H mutations was much higher than expected. The number of identified carriers was much lower in Hispanics than in Caucasians. We conclude that large-scale prenatal screening for CF heterozygotes in the absence of a family history of CF is an acceptable method for identifying couples at risk for affected fetuses. Sufficient pretest education can be accomplished efficiently, test insensitivity is well accepted, adverse psychological events are not observed, and general patient satisfaction is high. 66 refs., 1 fig., 8 tabs.

  18. Testing for direct genetic effects using a screening step in family-based association studies

    Directory of Open Access Journals (Sweden)

    Sharon M Lutz

    2013-11-01

    Full Text Available In genome wide association studies (GWAS, families based studies tend to have less power to detect genetic associations than population based studies, such as case-control studies. This can be an issue when testing if genes in a family based GWAS have a direct effect on the phenotype of interest or if the genes act indirectly through a secondary phenotype. When multiple SNPs are tested for a direct effect in the family based study, a screening step can be used to minimize the burden of multiple comparisons in the causal analysis. We propose a 2-stage screening step that can be incorporated into the family based association test (FBAT approach similar to the conditional mean model approach in the VanSteen-algorithm [1]. Simulations demonstrate that the type 1 error is preserved and this method is advantageous when multiple markers are tested. This method is illustrated by an application to the Framingham Heart Study.

  19. Large-Scale Forward Genetic Screening Analysis of Development of Hematopoiesis in Zebrafish

    Institute of Scientific and Technical Information of China (English)

    Kun Wang; Ning Ma; Yiyue Zhang; Wenqing Zhang; Zhibin Huang; Lingfeng Zhao; Wei Liu; Xiaohui Chen; Ping Meng; Qing Lin; Yali Chi; Mengchang Xu

    2012-01-01

    Zebrafish is a powerful model for the investigation of hematopoiesis.In order to isolate novel mutants with hematopoietic defects,large-scale mutagenesis screening of zebrafish was performed.By scoring specific hematopoietic markers,52 mutants were identified and then classified into four types based on specific phenotypic traits.Each mutant represented a putative mutation of a gene regulating the relevant aspect of hematopoiesis,including early macrophage development,early granulopoiesis,embryonic myelopoiesis,and definitive erythropoiesis/lymphopoiesis.Our method should be applicable for other types of genetic screening in zebrafish.In addition,further study of the mutants we identified may help to unveil the molecular basis of hematopoiesis.

  20. Genetic screens and functional genomics using CRISPR/Cas9 technology.

    Science.gov (United States)

    Hartenian, Ella; Doench, John G

    2015-04-01

    Functional genomics attempts to understand the genome by perturbing the flow of information from DNA to RNA to protein, in order to learn how gene dysfunction leads to disease. CRISPR/Cas9 technology is the newest tool in the geneticist's toolbox, allowing researchers to edit DNA with unprecedented ease, speed and accuracy, and representing a novel means to perform genome-wide genetic screens to discover gene function. In this review, we first summarize the discovery and characterization of CRISPR/Cas9, and then compare it to other genome engineering technologies. We discuss its initial use in screening applications, with a focus on optimizing on-target activity and minimizing off-target effects. Finally, we comment on future challenges and opportunities afforded by this technology.

  1. Genetic Screening for Bacterial Mutants in Liquid Growth Media By Fluorescence-Activated Cell Sorting

    Science.gov (United States)

    Abuaita, Basel H.; Withey, Jeffrey H.

    2010-01-01

    Many bacterial pathogens have defined in vitro virulence inducing conditions in liquid media which lead to production of virulence factors important during an infection. Identifying mutants that no longer respond to virulence inducing conditions will increase our understanding of bacterial pathogenesis. However, traditional genetic screens require growth on solid media. Bacteria in a single colony are in every phase of the growth curve, which complicates the analysis and make screens for growth phase-specific mutants problematic. Here, we utilize fluorescence-activated cell sorting in conjunction with random transposon mutagenesis to isolate bacteria grown in liquid media that are defective in virulence activation. This method permits analysis of an entire bacterial population in real time and selection of individual bacterial mutants with the desired gene expression profile at any time point after induction. We have used this method to identify Vibrio cholerae mutants defective in virulence induction. PMID:21094189

  2. 产前超声筛查胎儿先天性心脏病的临床价值分析%Analysis on clinical value of prenatal ultrasonography in screening of fetal congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    朱胜; 刘武岩; 曹晔

    2011-01-01

    目的 探讨胎儿超声心动图(FECG)产前筛查胎儿先天性心脏病(CHD)的临床应用价值.方法 采用四腔心、左室流出道、右室流出道、三血管切面四切面法,对6 500例孕20 ~41周孕妇进行产前FECG筛查,以引产后尸解或产后新生儿ECG作为对照标准.结果 6 500例胎儿中,检出胎儿心脏异常69例,包括复杂性先天心脏病部分合并心外畸形39例.结论 四切面检查方法简便可靠,是显示胎儿心脏结构及产前筛查胎儿CHD的重要影像诊断方法.%Objective To analyze the clinical application value of fetal echocardiography ( FECC) in screening of fetal congenital heart disease ( CHD). Methods Prenatal fetal echocardiography screening were performed in 6500 pregnant women ( at 20 ~ 41 weeks of gestation) by four chamber view, left ventricular outflow tract, right ventricular outflow tract and three vessels methods. The result of fetus autopsy from induced abortion or neonatal echocardiography was the control criterion. Results In all 6500 fetus, 69 cases of cardiac abnormalities were confirmed by screening, including 39 cases of complex congenital heart diseases, partial cases combined with extracardiac abnormality. Conclusion The four chamber view is a simple and effective method to detect the fetal cardiac structure which has important imaging diagnostic value for prenatal fetal congenital heart disease screening.

  3. The Value of Down Syndrome Screening Combined with Four Dimensional Colour Doppler Ultrasound in Prenatal Diagnosis%唐氏筛查联合四维彩超在产前诊断中的价值

    Institute of Scientific and Technical Information of China (English)

    邓玲; 汤辉; 黎兴盛; 郭平

    2015-01-01

    Objective:To explore the application value of Down syndrome screening combined with four dimensional colour doppler ultrasound in prenatal diagnosis.Method:From January 2011 to December 2014, 2578 cases of pregnant women for 14 to 24 weeks were selected in maternity clinics in our hospital,they were examined by Down syndrome screening and four dimensional colour doppler ultrasound.Result:2578 cases of pregnant women were all examined by Down syndrome screening and four dimensional colour doppler ultrasound. Positive rate of Down syndrome screening was 4.84%,positive rate of was four dimensional colour doppler ultrasound was 0.96%,positive rate of combined examination was 5.81%, positive rate between Down syndrome screening and combined examination had no statistical significance (P>0.05),positive rate between four dimensional colour doppler ultrasound and combined examination had statistical significance(P0.05),与四维彩超筛查比较差异有统计学意义(P<0.05).结论:唐氏筛查联合四维彩超在产前筛查中的意义重大,可提高唐氏儿和其他染色体病儿及各种畸形的诊断率,及时做出判断是否终止妊娠,为家庭和社会减轻了沉重的负担.

  4. A Genetic Screen Identifies Hypothalamic Fgf15 as a Regulator of Glucagon Secretion

    Directory of Open Access Journals (Sweden)

    Alexandre Picard

    2016-11-01

    Full Text Available The counterregulatory response to hypoglycemia, which restores normal blood glucose levels to ensure sufficient provision of glucose to the brain, is critical for survival. To discover underlying brain regulatory systems, we performed a genetic screen in recombinant inbred mice for quantitative trait loci (QTL controlling glucagon secretion in response to neuroglucopenia. We identified a QTL on the distal part of chromosome 7 and combined this genetic information with transcriptomic analysis of hypothalami. This revealed Fgf15 as the strongest candidate to control the glucagon response. Fgf15 was expressed by neurons of the dorsomedial hypothalamus and the perifornical area. Intracerebroventricular injection of FGF19, the human ortholog of Fgf15, reduced activation by neuroglucopenia of dorsal vagal complex neurons, of the parasympathetic nerve, and lowered glucagon secretion. In contrast, silencing Fgf15 in the dorsomedial hypothalamus increased neuroglucopenia-induced glucagon secretion. These data identify hypothalamic Fgf15 as a regulator of glucagon secretion.

  5. Quick genetic screening using targeted next-generation sequencing in patients with tuberous sclerosis.

    Science.gov (United States)

    Liu, Qing; Huang, Yan; Zhang, Mingrong; Wang, Lian Qing; Guo, Xia Nan; Si, Nuo; Qi, Zhan; Zhou, Xiang Qin; Cui, Li-ying

    2015-04-01

    Tuberous sclerosis complex is an autosomal dominant disorder characterized by hamartomas in multiple organ systems. Mutations in the 2 large genes TSC1 and TSC2 have been demonstrated to be associated with tuberous sclerosis complex by various mutation screening methods. Targeted next-generation sequencing for genetic analysis is performed in the current study and is proved to be less cost, labor, and time consuming compared with Sanger sequencing. Two de novo and 1 recurrent TSC2 mutation in patients with tuberous sclerosis complex were revealed. Clinical details of patients were described and the underlying mechanism of the 2 novel TSC2 mutations, c.245G>A(p.W82X) and c.5405_5408dupACTT(p.P1803Lfs*25), were discussed. These results added to variability of TSC mutation spectrum and suggest that targeted next-generation sequencing could be the primary choice over Sanger sequencing in future tuberous sclerosis complex genetic counseling.

  6. 无创产前基因测序在胎儿染色体非整倍体基因检测中的临床应用%The application of non-invasive prenatal genetic sequencing for fetal chromosomal aneuploidy

    Institute of Scientific and Technical Information of China (English)

    翁慧男; 梁嘉颖; 曾伟宏; 汤惠霞; 孙怡; 马将军

    2015-01-01

    1 to January 2013 were selected.Inclusion criteria:advanced age,prenatal screening for high risk,and fetal abnormality indicated by color ultrasonography,agreeing with non-invasive prenatal genetic testing.After non-invasive prenatal genetic testing, the pregnant women with positive result underwent cell culture and chromosomal karyotyping.Following the situations after deliv-ery were designed as the final criteria for definite diagnosis of fetal chromosomal aneuploidy.Results A total of 1 865 pregnant women underwent non-invasive prenatal genetic testing,of which 21 pregnant women were found with positive result,including 14 pregnant women with trisomy 21,5 pregnant women with trisomy 18,2 pregnant women with trisomy 13.The results of chromo-somal karyotyping after amniocentesis or umbilical cord blood puncture were designed as golden standard.Among the women with trisomy 21,one woman refused the prenatal diagnosis,self induced labor and could not be confirmed karyotype.No false positive case was found among the women with trisomy 18 and 13.No missed diagnosis was found among the pregnant women with negative result during follow-up after delivery.Through statistical analysis of non-invasive prenatal fetal genetic testing,the sensitivity for the trisomy 21 was 100%,and the accuracy was 92.9%.The sensitivity and accuracy for the trisomy 18 and 13 were 100%.Conclu-sion Non-invasive prenatal genetic testing can improve the diagnostic efficacy before delivery,reduce the birth of ill infants,and it is a quick,safe,easy-accepted and reliable prenatal diagnostic method,which is worthy to be popularized and an inexorable trend of development in the future.

  7. Women's and healthcare professionals' preferences for prenatal testing: a discrete choice experiment

    NARCIS (Netherlands)

    Beulen, L.; Grutters, J.P.C.; Faas, B.H.W.; Feenstra, I.; Groenewoud, H.; Vugt, J.M.G. van; Bekker, M.N.

    2015-01-01

    OBJECTIVE: This study evaluates pregnant women's and healthcare professionals' preferences regarding specific prenatal screening and diagnostic test characteristics. METHOD: A discrete choice experiment was developed to assess preferences for prenatal tests that differed in seven attributes: minimal

  8. Reproductive decisions after fetal genetic counselling.

    Science.gov (United States)

    Pergament, Eugene; Pergament, Deborah

    2012-10-01

    A broad range of testing modalities for fetal genetic disease has been established. These include carrier screening for single-gene mutations, first-trimester and second-trimester screening for chromosome abnormalities and open neural-tube defects, prenatal diagnosis by means of chorionic villus sampling and amniocentesis, and preimplantation genetic diagnosis. Reproductive decisions before and after fetal genetic counselling represent the culmination of a dynamic interaction between prospective parents, obstetrician and genetic counsellor. The decision to undergo genetic testing before and after genetic counselling is influenced by a host of interrelated factors, including patient-partner and family relationships, patient-physician communication, societal mores, religious beliefs, and the media. Because of the complexity of personal and societal factors involved, it is not surprising that genetic counselling concerning reproductive decision-making must be individualised. A limited number of principles, guidelines and standards apply when counselling about testing for fetal genetic disease. These principles are that genetic counselling should be non-directive and unbiased and that parental decisions should be supported regardless of the reproductive choice. A critical responsibility of the obstetrician and genetic counsellor is to provide accurate and objective information about the implications, advantages, disadvantages and consequences of any genetic testing applied to prospective parents and their fetuses. These principles and responsibilities will be tested as newer technologies, such as array comparative genome hybridisation, non-invasive prenatal diagnosis and sequencing of the entire genome are introduced into the field of reproductive genetics and become routine practice.

  9. 8020例孕中期母血清产前筛查结果回顾性分析%Rusults retrospective analysis of maternal serum prenatal screening in the second trimester

    Institute of Scientific and Technical Information of China (English)

    江德洋; 韩保良; 李晓君

    2013-01-01

    目的 为了解六安市21-三体综合征(唐氏综合征)、18-三体综合征(爱德华氏综合征)及NTD(神经管畸形)的发病率,旨在促进六安市产前筛查工作的更好开展.方法 采用时间分辨荧光免疫分析法(DELFIA)对全市2008年1月至2012年4月在我院产前门诊8020例孕妇进行产前筛查.结果 8020例孕妇中21-三体综合征高风险213例,高风险率1/38、18-三体综合征高风险43例,高风险率1/187;NTD高风险64例,高风险率1/125,确诊NTD1例.结论 结果表明六安市对产前筛查预防工作有成效,进一步开展产前筛查工作;扩大筛查覆盖率,对实施出生缺陷干预工程,提高出生人口素质有重大意义.%Objective:To understand the prevalence rate of trisomy 21 syndrome (Down syndrome), trisomy 18 syndrome (Edward's syndrome) and NTD (Neural tube defects) in Lu'an city, aim to promote the prenatal screening. Methods; Carrying out prenatal screening or 8020 outpatient antenatal pregnant women in Jin'an District Maternal and Child Health Hospital from January 2008to April 2012 by time -resolved fluorescence immunoassay (TRFIA). Results; Cases with high risk of trisomy 21 syndrome, trisomy 18 syndrome, NTD64 is 213, 43 and 64, with the rate of 1/ 38, 1/ 187 and 1/ 125, 1 NTD case was confirmed. Conclusion; the results showed the effectiveness of the prenatal screening in Lu'an city on of. We should do further to expand screening coverage, which is benefit for the implementation of birth defect intervention project, and for improving the population quality.

  10. Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review.

    Science.gov (United States)

    Tachdjian, Gérard; Frydman, Nelly; Morichon-Delvallez, Nicole; Dû, Anne Le; Fanchin, Renato; Vekemans, Michel; Frydman, René

    2003-02-01

    With an incidence of approximately 1 in 500 male newborns, the 47,XXY genotype is one the most common sex chromosome anomalies. It is also the most frequent genetic cause of human infertility. Some non-mosaic 47,XXY patients have sperm production which allows infertility treatment to be offered by ICSI. Therefore, the risk of transmitting a chromosome anomaly to the next generation is an important problem in reproductive genetic counselling of these patients. Here, we report on a twin pregnancy where two karyotypically normal neonates 46,XX and 46,XY were born after the use of ICSI in assisted reproduction of a patient with a non-mosaic 47,XXY syndrome. To date, only 38 evolving pregnancies including the present cases, have been reported after ICSI using sperm from non-mosaic 47,XXY patients. Although these data are scarce, they suggest that the risk of chromosome anomaly in the offspring of these patients is low; hence, their reproductive genetic counselling can be reassuring, and management of the pregnancy can proceed with caution.

  11. The application of second trimester maternal serum in prenatal screening for Down 's syndrome%孕中期母血清标记物在唐氏综合征产前筛查中的应用

    Institute of Scientific and Technical Information of China (English)

    谢晓媛; 张颖; 崔岚; 辛力; 岳胜

    2011-01-01

    . Those who were deemed to be at high risk of having a baby with Downfc syndrome received Genetic consultation, In informed consent under the condition of amniotic fluid puncture and ultrasonic diagnosis. Results; Of 75 876 cases, 4 241 cases were abnormality high-risk, including 1 036 cases accepted amniotic fluid puncture prenatal diagnosis, 16 cases of them were diagnosed as Down's syndrome and 2 cases were trisomy 18, 9 cases were other fetuses with chromosomal abnormalities. . In the 27cases, 18 patients were older less than 35 years old. Two gestation median values screening indexes were established in this area. The results showed that the AFP level in mother blood who had DS fetal was lower than normal pregnant women, and free - β - HCG level increased. But AFP level and free - β -HCG level of the mother who had fetal with trisomy 18 were reduced. Conclusion: Age is not only index for screening DS, AFP combined with free - p - HCG may be effective index for predicting a baby chromosome abnormalities. It plays an important role in the eugenics work.

  12. Prenatal ultrasound in diagnosis of fetal facial profile and associated genetic disorders%产前超声评估胎儿颜面轮廓及相关遗传学疾病

    Institute of Scientific and Technical Information of China (English)

    欧阳云淑; 孟华; 姜玉新; 戴晴; 张一休; 钟定荣; 赵大春; 刘欣燕

    2012-01-01

    目的 探讨产前超声评估胎儿颜面轮廓的可行性及对胎儿遗传学疾病的提示价值.方法 应用产前二维及三维超声观察20胎胎儿的颜面正中矢状面,评估颜面轮廓异常,并与染色体分析结果进行对照.结果 发现9胎21-三体、4胎18-三体、1胎13-三体和1胎4p-,5胎染色体正常.20胎中,鼻骨缺失或发育不良共8胎(6胎21-三体,2胎染色体正常);鼻前组织增厚9胎(8胎21-三体,1胎4p-);小下颌8胎(4胎18-三体,1胎21-三体,1胎13-三体,1胎4p-及1胎染色体正常);颜面扁平5胎(2胎21-三体,2胎Larsen综合征,1胎染色体正常);上颌前突2胎(1胎13-三体,1胎18-三体).结论 颜面正中矢状面有助于提示胎儿染色体异常及遗传综合征,其中鼻骨及下颌评估对21-三体及18-三体的提示意义明确,可作为中孕期筛查的常规内容.%Objective evaluate fetal facial profile with prenatal ultrasound, and to determine its diagnostic value for genetic disorders. Methods Sonographic findings of 20 fetuses were reviewed. Facial midsagittal plane was carefully evaluated with two-dimensional and three-dimensional ultrasound, and all fetuses underwent chromosomal analysis. Results There were 9 fetuses of trisomy 21, 4 of trisomy 18, 1 of trisomy 13 and 1 of 4p- , the remaining fetuses had normal kary-otype. Eight fetuses had absent or hypoplastic nasal bones, including 6 of trisomy 21 and 2 of normal karyotype. Nine fetuses showed increasing prenasal thickness, including 8 of trisomy 21 and 1 of 4p-. Eight fetuses had micrognathia, including 4 of trisomy 18, 1 of trisomy 21, 1 of trisomy 13, 1 of 4p- and 1 of normal karyotype. Five fetuses showed flat face, two of which were trisomy 21, another two were Larsen syndrome, and the remaining 1 showed normal karyotype. Two fetuses had premaxillary protrusion, proved to be trisomy 13 and trisomy 18. Conclusion Facial midsagittal plane may contribute to prenatal detection of genetic disorders and need

  13. The Application of Next Generation Sequencing Technology on Noninvasive Prenatal Test

    DEFF Research Database (Denmark)

    Jiang, Hui

    of effective treatment. The rapid development of next generation sequencing technology boosts the discovery of new causative gene for these rare diseases, as well as the genetic diagnosis in clinic practice. Carrier screening, prenatal diagnosis and newborn screening are wildly used in the world to prevent...... an invasive process, which might lead to maternal anxiety, or even miscarriage. Therefore, developing an effective approach to perform noninvasive prenatal test (NIPT) for rare diseases is the key challenge to prevent birth defect in the future. The discovery of cell-­free fetal DNA, coupling with next......, and maternal plasma. In order to obtain accurate result, we combined the haplotype information from the parents with maternal plasma deep sequencing data to recover the fetal genotype. Our study demonstrated that the sequencing-based new approach could be used to detect rare diseases, including chromosomal...

  14. 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.

  15. Review:Aluminium tolerance in barley (Hordeum vulgare L.): physiological mechanisms, genetics and screening methods

    Institute of Scientific and Technical Information of China (English)

    WANG Jun-ping; RAMAN Harsh; ZHANG Guo-ping; MENDHAM Neville; ZHOU Mei-xue

    2006-01-01

    Aluminium (Al) toxicity is one of the major limiting factors for barley production on acid soils. It inhibits root cell division and elongation, thus reducing water and nutrient uptake, consequently resulting in poor plant growth and yield. Plants tolerate Al either through external resistance mechanisms, by which Al is excluded from plant tissues or internal tolerance mechanisms, conferring the ability of plants to tolerate Al ion in the plant symplasm where Al that has permeated the plasmalemma is sequestered or converted into an innocuous form. Barley is considered to be most sensitive to Al toxicity among cereal species. Al tolerance in barley has been assessed by several methods, such as nutrient solution culture, soil bioassay and field screening. Genetic and molecular mapping research has shown that Al tolerance in barley is controlled by a single locus which is located on chromosome 4H. Molecular markers linked with Al tolerance loci have been identified and validated in a range of diverse populations. This paper reviews the (1) screening methods for evaluating Al tolerance, (2) genetics and (3) mechanisms underlying Al tolerance in barley.

  16. Multiplicity of experimental approaches to therapy for genetic muscle diseases and necessity for population screening.

    Science.gov (United States)

    Laing, Nigel G

    2008-01-01

    Currently a multiplicity of experimental approaches to therapy for genetic muscle diseases is being investigated. These include replacement of the missing gene, manipulation of the gene message, repair of the mutation, upregulation of an alternative gene and pharmacological interventions targeting a number of systems. A number of these approaches are in current clinical trials. There is considerable anticipation that perhaps more than one of the approaches will finally prove of clinical benefit, but there are many voices of caution. No matter which approaches might ultimately prove effective, there is a consensus that for most benefit to the patients it will be necessary to start treatment as early as possible. A consensus is also developing that the only way to do this is to implement population-based newborn screening to identify affected children shortly after birth. Population-based newborn screening is currently practised in very few places in the world and it brings with it implications for prevention rather than cure of genetic muscle diseases.

  17. A forward genetic screen reveals essential and non-essential RNAi factors in Paramecium tetraurelia.

    Science.gov (United States)

    Marker, Simone; Carradec, Quentin; Tanty, Véronique; Arnaiz, Olivier; Meyer, Eric

    2014-06-01

    In most eukaryotes, small RNA-mediated gene silencing pathways form complex interacting networks. In the ciliate Paramecium tetraurelia, at least two RNA interference (RNAi) mechanisms coexist, involving distinct but overlapping sets of protein factors and producing different types of short interfering RNAs (siRNAs). One is specifically triggered by high-copy transgenes, and the other by feeding cells with double-stranded RNA (dsRNA)-producing bacteria. In this study, we designed a forward genetic screen for mutants deficient in dsRNA-induced silencing, and a powerful method to identify the relevant mutations by whole-genome sequencing. We present a set of 47 mutant alleles for five genes, revealing two previously unknown RNAi factors: a novel Paramecium-specific protein (Pds1) and a Cid1-like nucleotidyl transferase. Analyses of allelic diversity distinguish non-essential and essential genes and suggest that the screen is saturated for non-essential, single-copy genes. We show that non-essential genes are specifically involved in dsRNA-induced RNAi while essential ones are also involved in transgene-induced RNAi. One of the latter, the RNA-dependent RNA polymerase RDR2, is further shown to be required for all known types of siRNAs, as well as for sexual reproduction. These results open the way for the dissection of the genetic complexity, interconnection, mechanisms and natural functions of RNAi pathways in P. tetraurelia.

  18. Generation of Mouse Haploid Somatic Cells by Small Molecules for Genome-wide Genetic Screening

    Directory of Open Access Journals (Sweden)

    Zheng-Quan He

    2017-08-01

    Full Text Available The recent success of derivation of mammalian haploid embryonic stem cells (haESCs has provided a powerful tool for large-scale functional analysis of the mammalian genome. However, haESCs rapidly become diploidized after differentiation, posing challenges for genetic analysis. Here, we show that the spontaneous diploidization of haESCs happens in metaphase due to mitotic slippage. Diploidization can be suppressed by small-molecule-mediated inhibition of CDK1 and ROCK. Through ROCK inhibition, we can generate haploid somatic cells of all three germ layers from haESCs, including terminally differentiated neurons. Using piggyBac transposon-based insertional mutagenesis, we generated a haploid neural cell library harboring genome-wide mutations for genetic screening. As a proof of concept, we screened for Mn2+-mediated toxicity and identified the Park2 gene. Our findings expand the applications of mouse haploid cell technology to somatic cell types and may also shed light on the mechanisms of ploidy maintenance.

  19. Comparison of different strategies in prenatal screening for Down's syndrome%三种产前筛查方法的对比研究

    Institute of Scientific and Technical Information of China (English)

    唐华; 王华; 周莹; 唐汪澜; 谢琼

    2011-01-01

    Objective: To assess and compare the effectiveness of three different strategies for prenatal screening for Down's syndrome (the first trimester test, the second trimester test, and the integrated test) and to determine the most useful way for Down's syndrome screening. Methods: serum PAPP - A and free β - HCG levels of 7802 pregnant women with 9 ~ 13 +6 weeks and serum AFP and free β -HCG and free uE3 levels of 11 911 pregnant women with 15 ~ 20+6 weeks were detected by time -distinguished fluorescence immunoassay. Down's syndrome risk value was calculated with lifecycle 3.0 software, with cut -off value of 1:270. The pregnant women whose value bigger than 1:270 would be as high risk of Down's syndrome and needed to have the cordocentesis for fetal karyotype. Results: 19 713 pregrant women accepted the Down's syndrome screening, 1059 of which were detected positive for Down's syndrome with false positive rate of 5.37% (1059/19713). 607 cases received fetal karyotype, accotmting for 57.32% (607/1059), detecting abnormal fetal chromosome in 24 cases with detecing rate 3.95% (24/607), including 4 cases of Down's syndrome and 3 cases of 18 - trisome. Beside this, 5 neural tube defects cases were found in the second trimester test. 1 case of Down's syndrome was confirmed after birth. The three different strategies' (the first trimester test, the second trimester test, and the integrated test) false positive rate were: 5.79%, 5. 10%, 4. 04%. Conclusion: The integrated test was better than the first trimester test and the second trimester test.%目的 探讨孕早期、中期和整合筛查对唐氏综合征筛查对检出胎儿染色体异常和妊娠不良结局的实用价值.方法 应用时间分辨荧光免疫法对7802例孕9周~13+6周和11911例孕15周~20+6周妇女进行血清标记物妊娠相关蛋白(PAPP-A)和游离B绒毛膜促性腺激素(free β-HCG)或甲胎蛋白(AFP)、游离B绒毛膜促性腺激素(free

  20. Flow Cytometry Enables Multiplexed Measurements of Genetically Encoded Intramolecular FRET Sensors Suitable for Screening.

    Science.gov (United States)

    Doucette, Jaimee; Zhao, Ziyan; Geyer, Rory J; Barra, Melanie M; Balunas, Marcy J; Zweifach, Adam

    2016-07-01

    Genetically encoded sensors based on intramolecular FRET between CFP and YFP are used extensively in cell biology research. Flow cytometry has been shown to offer a means to measure CFP-YFP FRET; we suspected it would provide a unique way to conduct multiplexed measurements from cells expressing different FRET sensors, which is difficult to do with microscopy, and that this could be used for screening. We confirmed that flow cytometry accurately measures FRET signals using cells transiently transfected with an ERK activity reporter, comparing responses measured with imaging and cytometry. We created polyclonal long-term transfectant lines, each expressing a different intramolecular FRET sensor, and devised a way to bar-code four distinct populations of cells. We demonstrated the feasibility of multiplexed measurements and determined that robust multiplexed measurements can be conducted in plate format. To validate the suitability of the method for screening, we measured responses from a plate of bacterial extracts that in unrelated experiments we had determined contained the protein kinase C (PKC)-activating compound teleocidin A-1. The multiplexed assay correctly identifying the teleocidin A-1-containing well. We propose that multiplexed cytometric FRET measurements will be useful for analyzing cellular function and for screening compound collections.

  1. Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients.

    Science.gov (United States)

    Alavi, Afagh; Nafissi, Shahriar; Rohani, Mohammad; Zamani, Babak; Sedighi, Behnaz; Shamshiri, Hosein; Fan, Jian-Bing; Ronaghi, Mostafa; Elahi, Elahe

    2013-05-01

    Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease, and the most common in European populations. Results of genetic analysis and mutation screening of SOD1 in a cohort of 60 Iranian ALS patients are here reported. Initially, linkage analysis in 4 families identified a disease-linked locus that included the known ALS gene, SOD1. Screening of SOD1 identified homozygous p.Asp90Ala causing mutations in all the linked families. Haplotype analysis suggests that the p.Asp90Ala alleles in the Iranian patients might share a common founder with the renowned Scandinavian recessive p.Asp90Ala allele. Subsequent screening in all the patients resulted in identification of 3 other mutations in SOD1, including p.Leu84Phe in the homozygous state. Phenotypic features of the mutation-bearing patients are presented. SOD1 mutations were found in 11.7% of the cohort, 38.5% of the familial ALS probands, and 4.25% of the sporadic ALS cases. SOD1 mutations contribute significantly to ALS among Iranians.

  2. New multiplex PCR methods for rapid screening of genetically modified organisms in foods

    Directory of Open Access Journals (Sweden)

    Nelly eDatukishvili

    2015-07-01

    Full Text Available We present novel multiplex PCR methods for rapid and reliable screening of genetically modified organisms (GMOs. New designed PCR primers targeting four frequently used GMO specific sequences permitted identification of new DNA markers, in particular 141 bp fragment of cauliflower mosaic virus (CaMV 35S promoter, 224 bp fragment of Agrobacterium tumefaciens nopaline synthase (NOS terminator, 256 bp fragment of 5-enolppyruvylshikimate-phosphate synthase (epsps gene and 258 bp fragment of Cry1Ab delta-endotoxin (cry1Ab gene for GMO screening. The certified reference materials containing Roundup Ready soybean (RRS and maize MON 810 were applied for the development and optimization of uniplex and multiplex PCR systems. Evaluation of amplification products by agarose gel electrophoresis using negative and positive controls confirmed high specificity and sensitivity at 0.1% GMO for both RRS and MON 810. The fourplex PCR was developed and optimized that allows simultaneous detection of three common transgenic elements, such as: CaMV 35S promoter, NOS terminator, epsps gene together with soybean-specific lectin gene. The triplex PCR developed enables simultaneous identification of transgenic elements, such as: 35S promoter and cry1Ab gene together with maize zein gene. The analysis of different processed foods demonstrated that multiplex PCR methods developed in this study are useful for accurate and fast screening of GM food products.

  3. New multiplex PCR methods for rapid screening of genetically modified organisms in foods.

    Science.gov (United States)

    Datukishvili, Nelly; Kutateladze, Tamara; Gabriadze, Inga; Bitskinashvili, Kakha; Vishnepolsky, Boris

    2015-01-01

    We present novel multiplex PCR methods for rapid and reliable screening of genetically modified organisms (GMOs). New designed PCR primers targeting four frequently used GMO specific sequences permitted identification of new DNA markers, in particular 141 bp fragment of cauliflower mosaic virus (CaMV) 35S promoter, 224 bp fragment of Agrobacterium tumefaciens nopaline synthase (NOS) terminator, 256 bp fragment of 5-enolppyruvylshikimate-phosphate synthase (epsps) gene and 258 bp fragment of Cry1Ab delta-endotoxin (cry1Ab) gene for GMO screening. The certified reference materials containing Roundup Ready soybean (RRS) and maize MON 810 were applied for the development and optimization of uniplex and multiplex PCR systems. Evaluation of amplification products by agarose gel electrophoresis using negative and positive controls confirmed high specificity and sensitivity at 0.1% GMO for both RRS and MON 810. The fourplex PCR was developed and optimized that allows simultaneous detection of three common transgenic elements, such as: CaMV 35S promoter, NOS terminator, epsps gene together with soybean-specific lectin gene. The triplex PCR developed enables simultaneous identification of transgenic elements, such as: 35S promoter and cry1Ab gene together with maize zein gene. The analysis of different processed foods demonstrated that multiplex PCR methods developed in this study are useful for accurate and fast screening of GM food products.

  4. A genetic screen for components of the mammalian RNA interference pathway in Bloom-deficient mouse embryonic stem cells.

    Science.gov (United States)

    Trombly, Melanie I; Su, Hong; Wang, Xiaozhong

    2009-03-01

    Genetic screens performed in model organisms have helped identify key components of the RNA interference (RNAi) pathway. Recessive genetic screens have recently become feasible through the use of mouse embryonic stem (ES) cells that are Bloom's syndrome protein (Blm) deficient. Here, we developed and performed a recessive genetic screen to identify components of the mammalian RNAi pathway in Blm-deficient ES cells. Genome-wide mutagenesis using a retroviral gene trap strategy resulted in the isolation of putative homozygous RNAi mutant cells. Candidate clones were confirmed by an independent RNAi-based reporter assay and the causative gene trap integration site was identified using molecular techniques. Our screen identified multiple mutant cell lines of Argonaute 2 (Ago2), a known essential component of the RNAi pathway. This result demonstrates that true RNAi components can be isolated by this screening strategy. Furthermore, Ago2 homozygous mutant ES cells provide a null genetic background to perform mutational analyses of the Ago2 protein. Using genetic rescue, we resolve an important controversy regarding the role of two phenylalanine residues in Ago2 activity.

  5. The usage and current approaches of cell free fetal DNA (cffDNA as a prenatal diagnostic method in fetal aneuploidy screening

    Directory of Open Access Journals (Sweden)

    Hülya Erbaba

    2015-12-01

    Full Text Available Prenatal diagnosis of invasive and noninvasive tests can be done in a way (NIPT, but because of the invasive methods have risks of infection and abortion, diagnosing non-invasive procedure increasing day by day. One of the widespread cell free fetal DNA in maternal blood test (cffDNA that is increasing in clinical use has been drawing attention. The incidence of aneuploidy chromosomal anomaly of the kind in which all live births; Trisomy 21 (Down Syndrome 1/800, trisomy 13 (Patau syndrome 1 /10,000, trisomy 18 (Edwards syndrome is a form of 1/6000. Because of the high mortality and morbidity, it is vital that congenital anomalies should be diagnosed in prenatal period. Aneuploidy testing for high-risk pregnant women after the 10th week of pregnancy in terms of the blood sample is taken and free fetal DNA in maternal plasma is based on the measurement of the relative amount. Knowledge of the current criteria for use by healthcare professionals in the field test will allow the exclusion of maternal and fetal risks. In this study, it is aimed to demonstrate current international approaches related to the positive and negative sides of non-invasive that is one of the prenatal diagnostic methods of cffDNA test. J Clin Exp Invest 2015; 6 (4: 414-417

  6. Functional Genetic Screen to Identify Interneurons Governing Behaviorally Distinct Aspects of Drosophila Larval Motor Programs

    Directory of Open Access Journals (Sweden)

    Matt Q. Clark

    2016-07-01

    Full Text Available Drosophila larval crawling is an attractive system to study rhythmic motor output at the level of animal behavior. Larval crawling consists of waves of muscle contractions generating forward or reverse locomotion. In addition, larvae undergo additional behaviors, including head casts, turning, and feeding. It is likely that some neurons (e.g., motor neurons are used in all these behaviors, but the identity (or even existence of neurons dedicated to specific aspects of behavior is unclear. To identify neurons that regulate specific aspects of larval locomotion, we performed a genetic screen to identify neurons that, when activated, could elicit distinct motor programs. We used 165 Janelia CRM-Gal4 lines—chosen for sparse neuronal expression—to ectopically express the warmth-inducible neuronal activator TrpA1, and screened for locomotor defects. The primary screen measured forward locomotion velocity, and we identified 63 lines that had locomotion velocities significantly slower than controls following TrpA1 activation (28°. A secondary screen was performed on these lines, revealing multiple discrete behavioral phenotypes, including slow forward locomotion, excessive reverse locomotion, excessive turning, excessive feeding, immobile, rigid paralysis, and delayed paralysis. While many of the Gal4 lines had motor, sensory, or muscle expression that may account for some or all of the phenotype, some lines showed specific expression in a sparse pattern of interneurons. Our results show that distinct motor programs utilize distinct subsets of interneurons, and provide an entry point for characterizing interneurons governing different elements of the larval motor program.

  7. Preliminary Study on Thalassemia Screening and Genetic Counseling in Selective Hmong People in Saraburi Province, Thailand

    Directory of Open Access Journals (Sweden)

    Pa Vang

    2008-01-01

    Full Text Available it can lead to the destruction of red blood cells. Studies have shown that there is a high prevalence of thalassemia in Southeast Asia. The Institute of Health Research, Chulalongkorn University developed a successful “Module” to screen for thalassemia in the Thai population, however, it has not been implemented in the minority population in Thailand. In this study, we investigated the feasibility of the newly developed educational and thalassemia screening program with the Hmong population. The primary aim of this study was to test this program. The secondary aim was to determine the prevalence of thalassemia in the Hmong and provide education. A third aim was to determine the reliability of two different screening methods in the Hmong population. A pre-test and post-test design was used; participants (N=12 were individuals residing in Thailand with the ability to read English and between the ages 18-50. The participants met twice with the researchers to complete the program. The first contact consisted of assessing participants’ knowledge about thalassemia, providing thalassemia information and education about genetic counseling, and drawing blood samples. The second contact consisted of assessing knowledge, providing a written report of individual blood sample results and counseling. The initial interview revealed that the majority of the participants (82% did not know anything about thalassemia prior to participation. The program was easy to understand by most participants (90%. Of the eleven Hmong participants, two tested positive for being a possible carrier for thalassemia. In order to reduce the prevalence of thalassemia, it is necessary to engage in risk reduction health services. The modified screening method proved to be as effective as the standard method. Therefore, the program can expand and be used in other regional populations with low cost.

  8. Genetic screening and evaluation for chromosomal abnormalities of infertile males in Jilin Province, China.

    Science.gov (United States)

    Zhang, M; Fan, H-T; Zhang, Q-S; Wang, X-Y; Yang, X; Tian, W-J; Li, R-W

    2015-12-08

    Chromosomal abnormality is the most common genetic cause of male infertility, particularly in cases of azoospermia, oligozoospermia, and recurrent spontaneous abortion. Chromosomal rearrangement may interrupt an important gene or exert position effects. The functionality of genes at specific breakpoints, perhaps with a specific role in spermatogenesis, may be altered by such rearrangements. Structural chromosome abnormalities are furthermore known to increase the risk of pregnancy loss. In this study, we aimed to assess chromosomal defects in infertile men from Jilin Province, China, by genetic screening and to evaluate the relationship between structural chromosome abnormalities and male infertility. The prevalence of chromosomal abnormalities among the study participants (receiving genetic counseling in Jilin Province, China) was 10.55%. The most common chromosome abnormality was Klinefelter syndrome, and the study findings suggested that azoospermia and oligospermia may result from structural chromosomal abnormalities. Chromosome 1 was shown to be most commonly involved in male infertility and balanced chromosomal translocation was identified as one of the causes of recurrent spontaneous abortion. Chromosomes 4, 7, and 10 were the most commonly involved chromosomes in male partners of women experiencing repeated abortion.

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

    Institute of Scientific and Technical Information of China (English)

    吴坚柱; 陈宝江; 陈健生; 谢英俊; 林少宾

    2011-01-01

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

  10. Role of Non-Invasive Detection of DNA in Prenatal Screening for Down's Syndrome%无创DNA检测在唐氏综合征产前筛查中的作用

    Institute of Scientific and Technical Information of China (English)

    侯朝晖; 刘华平; 陈冰; 李秀军; 任东平; 任力; 郭晓东

    2013-01-01

    目的:通过比较无创DNA检测和孕中期血清学筛查两种方法的筛查阳性率,从而肯定无创DNA检测在唐氏综合征产前筛查中的实用价值.方法:对500例单胎孕妇进行血清标记物(AFP+β-HCG)-联指标检测,应用配套软件计算唐氏综合征风险;对496例孕妇外周血中的游离DNA片段(含胎儿游离DNA)进行高通量测序,并将测序结果进行生物信息学分析,得出胎儿发生染色体非整倍体的风险率,并追踪胎儿和孕妇的情况.结果:唐氏综合征血清筛查组高危孕妇22例、阳性率为4.4%,假阳性率4.2%;无创DNA检测组筛查阳性孕妇3例,阳性率为0.6%,唐氏综合征检出率为100%.两种方法用于唐氏综合征产前筛查的差异有显著性(P<0.01).结论:无创DNA检测适用范围广、准确率高,是产前筛查是唐氏综合征的有效方法.%Objective: To compare the non-invasive detection of DNA and second trimester serum screening positive rate of screening of two methods, which must be non-invasive detection of DNA in prenatal screening for Down's syndrome practical value. Methods: 500 cases single fetal pregnant women were detected respectively serum mark object ( afp+ beta -hcg ), using software to calculate the risk of Down's syndrome. 496 cases of pregnant women were chosen to detect the free DNA fragment of peripheral blood ( with fetal free DNA) was sequenced and analyzed, then fetal chromosome aneuploid of risk rate was obtained, and followed up fetal and pregnant women. Results: Serum screening for Down's syndrome group of 22 patients with high risk pregnant women, the positive rate was 4.4%, a false positive rate of 4.2%; non-invasive detection of DNA groups screen-positive pregnant women in 3 cases, the positive rate was 0.6%, Down's syndrome detection rates was 100%. There were significant differences of prenatal screening for Down' s syndrome by these two methods (P<0.01 ). Conclusions: Non - invasive detection of DNA

  11. Breast cancer genetic risk profile is differentially associated with interval and screen-detected breast cancers.

    Science.gov (United States)

    Li, J; Holm, J; Bergh, J; Eriksson, M; Darabi, H; Lindström, L S; Törnberg, S; Hall, P; Czene, K

    2015-03-01

    Polygenic risk profiles computed from multiple common susceptibility alleles for breast cancer have been shown to identify women at different levels of breast cancer risk. We evaluated whether this genetic risk stratification can also be applied to discriminate between screen-detected and interval cancers, which are usually associated with clinicopathological and survival differences. A 77 single-nucleotide polymorphism polygenic risk score (PRS) was constructed for breast cancer overall and by estrogen receptor (ER) status. PRS was inspected as a continuous (per standard deviation increment) variable in a case-only design. Modification of the PRS by mammographic density was evaluated by fitting an additional interaction term. PRS weighted by breast cancer overall estimates was found to be differentially associated with 1865 screen-detected and 782 interval cancers in the LIBRO-1 study {age-adjusted odds ratio (OR)perSD [95% confidence interval (CI)] 0.91 [0.83-0.99], P = 0.023}. The association was found to be more significant for PRS weighted by ER-positive breast cancer estimates [ORperSD = 0.90 (0.82-0.98), P = 0.011]. This result was corroborated by two independent studies [combined ORperSD = 0.87 (0.76-1.00), P = 0.058] with no evidence of heterogeneity. When enriched for 'true' interval cancers among nondense breasts, the difference in the association with PRS in screen-detected and interval cancers became more pronounced [ORperSD = 0.74 (0.62-0.89), P = 0.001], with a significant interaction effect between PRS and mammographic density (Pinteraction = 0.017). To our knowledge, this is the first report looking into the genetic differences between screen-detected and interval cancers. It is an affirmation that the two types of breast cancer may have unique underlying biology. © The Author 2014. Published by Oxford University Press on behalf of the European Society for Medical Oncology. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  12. 产前超声筛查胎儿唇裂和(或)腭裂及相关畸形%Prenatal ultrasound screening for fetal cleft lip and palate and related abnormalities

    Institute of Scientific and Technical Information of China (English)

    甄理; 杨昕; 易翠兴; 欧燕媚; 李东至

    2012-01-01

    Objective To evaluate the sensitivity and specificity of prenatal ultrasound for detecting fetal cleft lip and palate,and the diagnosis rate of associated congenital structural and chromosomal abnormalities.Methods Thirty one thousand two hundred and forty five singleton pregnant women accepted prenatal examination and delivered in Guangzhou Women & Children' s Medical Center from Jan.2006 to Dec.2010 were recruited in this study.All pregnant women underwent prenatal ultrasound screening during second trimester,and whose fetuses were suspected to be cleft lip and palate were suggested to accept karyotype analysis.All babies delivered received oral examination to diagnose cleft lip and palate.Results Cleft lip and palate was diagnosed in 48 cases (1.5‰,48/31 245).Among which,there were 16 cases (33.3%,16/48) of cleft lip,21 cases (43.8%,21/48) of cleft lip with cleft palate and 11 cases (22.9%,11/48) of cleft palate.Prenatal ultrasound screening suggested 18 cases of cleft lip and 14 cases were comfirmed after birth with the accuracy rate of 77.8%,3 cases were diagnosed to be cleft lip with cleft palate and one cases was misdiagnosed.Prenatal ultrasound screening suggested 18 cases of cleft lip with cleft palate in accordance with the diagnosis after birth.Thirteen cases were normal in prenatal ultrasound screening,but two were diagnosed as cleft lip and 11 were diagnosed as cleft palate after birth.The sensitivity of prenatal ultrasound screening for cleft lip and cleft lip with cleft palate was 86.5%(32/37),and the sensitivity for cleft lip and palate was 66.7% (32/48),the false positive rate was 2.1% (1/48).Ten cases (27.8%,10/36) of cleft lip with cleft palate were found to be complicated with other abnormalities.Nine of the 18 cases prenatally diagnosed cleft lip with cleft palate accepted karyotype analysis and 7 were abnormal.Twenty-three of 36 cases with fetal cleft lip and palate in prenatal ultrasound screening were induced

  13. Noninvasive prenatal testing: the future is now.

    Science.gov (United States)

    Norwitz, Errol R; Levy, Brynn

    2013-01-01

    Prenatal detection of chromosome abnormalities has been offered for more than 40 years, first by amniocentesis in the early 1970s and additionally by chorionic villus sampling (CVS) in the early 1980s. Given the well-recognized association between increasing maternal age and trisomy,1-3 the primary utilization of prenatal testing has been by older mothers. This has drastically reduced the incidence of aneuploid children born to older mothers.4 Although younger women have relatively low risks of conceiving a child with aneuploidy, the majority of pregnant women are in their late teens, 20s, and early 30s. As such, most viable aneuploid babies are born to these younger mothers.5 Invasive prenatal diagnosis (CVS and amniocentesis) is not a feasible option for all low-risk mothers, as these procedures carry a small but finite risk and would ultimately cause more miscarriages than they would detect aneuploidy. For this reason, a number of noninvasive tests have been developed-including first-trimester risk assessment at 11 to 14 weeks, maternal serum analyte (quad) screening at 15 to 20 weeks, and sonographic fetal structural survey at 18 to 22 weeks-all of which are designed to give a woman an adjusted (more accurate) estimate of having an aneuploid fetus using as baseline her a priori age-related risk. Ultrasound and maternal serum analysis are considered screening procedures and both require follow up by CVS or amniocentesis in screen-positive cases for a definitive diagnosis of a chromosome abnormality in the fetus. The ability to isolate fetal cells and fetal DNA from maternal blood during pregnancy has opened up exciting opportunities for improved noninvasive prenatal testing (NIPT). Direct analysis of fetal cells from maternal circulation has been challenging given the scarcity of fetal cells in maternal blood (1:10,000-1:1,000,000) and the focus has shifted to the analysis of cell-free fetal DNA, which is found at a concentration almost 25 times higher than that

  14. Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening.

    Science.gov (United States)

    Maiorana, Arianna; Barbetti, Fabrizio; Boiani, Arianna; Rufini, Vittoria; Pizzoferro, Milena; Francalanci, Paola; Faletra, Flavio; Nichols, Colin G; Grimaldi, Chiara; de Ville de Goyet, Jean; Rahier, Jacques; Henquin, Jean-Claude; Dionisi-Vici, Carlo

    2014-11-01

    Congenital hyperinsulinism (CHI) requires rapid diagnosis and treatment to avoid irreversible neurological sequelae due to hypoglycaemia. Aetiological diagnosis is instrumental in directing the appropriate therapy. Current diagnostic algorithms provide a complete set of diagnostic tools including (i) biochemical assays, (ii) genetic facility and (iii) state-of-the-art imaging. They consider the response to a therapeutic diazoxide trial an early, crucial step before proceeding (or not) to specific genetic testing and eventually imaging, aimed at distinguishing diffuse vs focal CHI. However, interpretation of the diazoxide test is not trivial and can vary between research groups, which may lead to inappropriate decisions. Objective of this report is proposing a new algorithm in which early genetic screening, rather than diazoxide trial, dictates subsequent clinical decisions. Two CHI patients weaned from parenteral glucose infusion and glucagon after starting diazoxide. No hypoglycaemia was registered during a 72-h continuous glucose monitoring (CGMS), or hypoglycaemic episodes were present for no longer than 3% of 72-h. Normoglycaemia was obtained by low-medium dose diazoxide combined with frequent carbohydrate feeds for several years. We identified monoallelic, paternally inherited mutations in KATP channel genes, and (18) F-DOPA PET-CT revealed a focal lesion that was surgically resected, resulting in complete remission of hypoglycaemia. Although rare, some patients with focal lesions may be responsive to diazoxide. As a consequence, we propose an algorithm that is not based on a 'formal' diazoxide response but on genetic testing, in which patients carrying paternally inherited ABCC8 or KCNJ11 mutations should always be subjected to (18) F-DOPA PET-CT. © 2014 John Wiley & Sons Ltd.

  15. 不同方法在唐氏综合征产前筛查中的比较研究%Comparative study of different methods in Down's syndrome prenatal screening

    Institute of Scientific and Technical Information of China (English)

    欧秀月; 黄劲柏

    2013-01-01

    Objective:To comparison of different period of two CRC screening with the traditional two CRC screening in second trimester prenatal for Down's syndrome in effect. Methods:Using the Roche electrochemical detection technology,1289 cases accepted antenatal screening of pregnant women and5 patients who had been diagnosed with Down syndrome pregnancy of cryopreserved serum specimens in gestational weeks11 to14weeks of pregnancy determination of PAPP-A, Free beta-HCG, and then in 16~20 weeks pregnancy detection of AFP, HCG, concentration, were calculated for two screening and triple screening for risk value, the detection rate and false positive rate.Results:The study of early pregnancy detection of Down syndrome in 21 cases of high risk pregnant women, the second trimester detection of high risk pregnant women in 31 cases, including a period of high risk pregnant women in 20 cases, visible, there were32 cases of high risk pregnant women,31 cases underwent amnion cavity puncture examination, prenatal diagnosis in 1 cases, the positive rate is 3.2%. In 32 cases the screening case,30~40 years old accounted for 16 cases (50%), visible in women of advanced maternal age is down syndrome risk population.When the cut-off value of 1 to 270, with two triple screening for CRC screening for Down syndrome detection rates were65.2%;when the cut-off value of 1:380, different period two CRC screening detection rate was significantly higher than that of the traditional two CRC screening in( P<0.05) .Conclusions:In pregnant women during different periods of the traditional two CRC screening in second trimester prenatal is more effective for Down syndrome screening method, it is necessary to develop the region for the risk of cutting value, in order to improve prenatal screening efficiency.%目的:比较不同时期二联筛查与传统孕中期二联筛查在唐氏综合征产前筛查中的效果。方法:采用罗氏电化学检测技术,对1289例同意

  16. O discurso do risco e o aconselhamento genético pré-natal Risk discourse and prenatal genetic counseling

    Directory of Open Access Journals (Sweden)

    Marilena C. D. V. Corrêa

    2006-10-01

    Full Text Available A medicalização é um fenômeno social difuso nas sociedades ocidentais que se expressa segundo um diferencial de gênero. A gravidez é um momento fortemente medicalizado, no qual as mulheres se vêem cercadas de uma rede de vigilância de seu corpo, sendo responsabilizadas não só pela própria saúde, mas também pela produção de um feto saudável. O controle dos riscos no pré-natal é proposto, entretanto, em um contexto no qual as possibilidades diagnósticas são amplamente majoritárias comparativamente às possibilidades terapêuticas. Essa defasagem é agravada pelo fato de, no Brasil, o abortamento ser ilegal. Este artigo é fruto de pesquisa empírica realizada em um ambulatório público de genética pré-natal, que constou de: observação das práticas de atendimento, revisão de prontuários e realização de entrevistas com profissionais de saúde. Discutem-se o contexto fortemente medicalizado do aconselhamento genético no Brasil e a percepção dos médicos sobre suas práticas neste contexto. É discutido também o possível impacto sobre a tomada de decisão das mulheres atendidas em relação a riscos, técnicas, exames e seus desdobramentos.Medicalization is a highly visible and widespread social phenomenon in Western societies which is expressed differently according to gender. Pregnancy is heavily medicalized, and a surveillance network surrounds pregnant women, holding them accountable for both their own health and the production of a healthy fetus. Prenatal risk control is proposed in a context where diagnostic and therapeutic possibilities overlap. This problem is aggravated by the fact that abortion is illegal in Brazil. The current article is the result of research in a genetic counseling unit that consisted of: observation of consultations, review of patient files, and interviews with health professionals. The highly medicalized context of genetic counseling is discussed, as well as physicians' perception of

  17. Mutation screening and prenatal diagnosis of Wilson' s disease by denature high performance liquid chromatography%应用变性高效液相色谱技术进行肝豆状核变性的基因突变筛查及产前诊断

    Institute of Scientific and Technical Information of China (English)

    杜娟; 高伯笛; 李麓芸; 李汶; 卢光琇

    2008-01-01

    目的 探讨变性高效液相色谱(denature high performance liquid chromatography,DHPLC)技术在肝豆状核变性(Wilson's disease,WD)的突变筛查及产前诊断中的临床应用.方法 以6个WD家系中的患者及其父母的DNA为模板,采用PCR技术扩增ATP7B基因的21个外显子及5'非翻译区,PCR产物经DHPLC技术进行突变筛查,对峰型有改变者进行测序验证.在确定了先证者突变类型的基础上,采用相同方法对其中4个家系(1个双胎和3个单胎)进行产前诊断.结果 6例患者中检测出5种已知的致病突变及8种多态类型.患者的父母均为相应突变类型的携带者.产前诊断结果显示,两例妊娠为异常胎儿,其中1例双胎为Arg778Leu/IVS4-1G>C双重杂合子,1例单胎为Ser975Tyr/Pro992Leu双重杂合子,这两对妊娠夫妇选择了终止妊娠.另两例妊娠中,1例为Ser975Tyr杂合子,1例完全正常,他们选择了继续妊娠,出生了表型正常儿.结论 DHPLC在Wilson病的突变检测和产前诊断中有良好的应用前景.%Objective To study the clinical application of denature high performance liquid chromatography (DHPLC) technique on mutation screening and prenatal diagnosis for Wilson' s disease (WD). Methods Genomic DNA of the probands with Wilson' s disease and their parents from 6 families was subjected to polymerase chain reaction (PCR) for the 21 exons and the 5' untranslated region of ATP7B gene. Mutation screening of the PCR products was performed by DHPLC. The abnormal peaks were confirmed by further sequencing analysis. Based on the successful gene diagnosis for the patients, prenatal diagnosis was performed in 4 families, including 1 twin and 3 singletons. Results Five disease-causing mutations and 8 polymorphisms were found in the 6 probands by DHPLC and sequencing. The parents were carriers with the same mutation as their affected children. Prenatal diagnosis showed that two pregnancies were abnormal, including a twin pregnancy with

  18. 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.

  19. Familial Mediterranean fever without cardinal symptoms and role of genetic screening.

    Science.gov (United States)

    Ulas, T; Buyukhatipoglu, H; Bes, C; Dal, M S; Hacıbekiroglu, I; Apucu, H G; Borlu, F

    2012-07-19

    Familial Mediterranean fever is an autosomal recessive disorder characterized by paroxysmal episodes of fever and serosal inflammation. The classical presentation is fever and severe recurrent abdominal pain due to serositis that lasts for one to three days and the resolves spontaneously. Between the episodes patients are asymptomatic. Ninety-five percent of patients with familial mediterranean fever have painful episodes localized to the abdomen, which is usually the dominant manifestation of the disease. Herein, we present a case of 34-year-old man with incomplete abdominal pain episode of familial mediterranean fever limited to the epigastrum and had no cardinals symptoms of this disease. The diagnosis was made by genetic screening. Successful treatment response was achieved by colchicine.

  20. Familial Mediterranean fever without cardinal symptoms and role of genetic screening

    Directory of Open Access Journals (Sweden)

    I. Hacıbekiroglu

    2012-07-01

    Full Text Available Familial mediterranean fever is an autosomal recessive disorder characterized by paroxysmal episodes of fever and serosal inflammation. The classical presentation is fever and severe recurrent abdominal pain due to serositis that lasts for one to three days and the resolves spontaneously. Between the episodes patients are asymptomatic. Ninety-five percent of patients with familial mediterranean fever have painful episodes localized to the abdomen, which is usually the dominant manifestation of the disease. Herein, we present a case of 34-year-old man with incomplete abdominal pain episode of familial mediterranean fever limited to the epigastrum and had no cardinals symptoms of this disease. The diagnosis was made by genetic screening. Succesful treatment response was achieved by colchicine.

  1. Designer babies on tap? Medical students' attitudes to pre-implantation genetic screening.

    Science.gov (United States)

    Meisenberg, Gerhard

    2009-03-01

    This paper describes two studies about the determinants of attitudes to pre-implantation genetic screening in a multicultural sample of medical students from the United States. Sample sizes were 292 in study 1 and 1464 in study 2. Attitudes were of an undifferentiated nature, but respondents did make a major distinction between use for disease prevention and use for enhancement. No strong distinctions were made between embryo selection and germ line gene manipulations, and between somatic gene therapy and germ line gene manipulations. Religiosity was negatively associated with acceptance of "designer baby" technology for Christians and Muslims but not Hindus. However, the strongest and most consistent influence was an apparently moralistic stance against active and aggressive interference with natural processes in general. Trust in individuals and institutions was unrelated to acceptance of the technology, indicating that fear of abuse by irresponsible individuals and corporations is not an important determinant of opposition.

  2. Clinical Value of Prenatal Screen for Down' s Syndrome and Prenatal Diagnosis in the First and Second Trimester in Xiangtan%湘潭地区孕早中期联合产前筛查与产前诊断的临床应用价值探讨

    Institute of Scientific and Technical Information of China (English)

    孙辉; 王淑媛; 熊敏

    2012-01-01

    Objective To explore the clinical value of prenatal screen and diagnosis in the first and second trimester for preventing birth defects. Methods The serum markers of 18247 cases of pregnant women were detected by automatic Time-Resolved Fluorescence (TRF) , and amniotic fluid culture test for fetal karyotype diagnosis in high-risk pregnant women were carried out. Results In the 18247 cases of pregnant women, the high risk of DS and trisomy 18 were 873 and 91 cases respectively. The high risk of NTD was 104 cases, and the total positive rate was 5. 85%. In the 583 cases of pregnant women who accepted the amniotic fluid culture for prenatal diagnosis, the definitive diagnosis of chromosome numerical aberration were 19 cases in which included 13 cases of DS, 2 cases of trisomy and 4 cases of sex chromosomal abnormalities. The chromosomal structural abnormality were 13 cases and spina bifida or anencephaly were 13 cases, which was diagnosed by type-B ultrasonic. Conclusion Prenatal screen and diagnosis are effective predictors for adverse pregnancy outcome and have significant clinical value to prevent congenital defects in infants.%目的 探讨孕早中期孕妇联合产前筛查与产前诊断对预防出生缺陷的实用价值.方法 应用全自动时间分辨荧光免疫法对18247例孕妇血清标志物联合筛查,高风险孕妇通过羊水产前诊断进行效果评价.结果 筛查出唐氏综合征高风险873例,18-三体高风险91例,NTD高风险者104例,总阳性率5.85%.有583例孕妇接受羊水产前诊断,占筛查高危的60.5%.确诊胎儿染色体数目异常19例(唐氏综合征13例、18-三体综合征2例、性染色体异常4例);染色体结构异常13例;B超确诊脊柱裂或脑畸形13例.结论 联合产前筛查与产前诊断是预测不良妊娠结局的有效指标,对降低出生缺陷有重要的临床意义.

  3. Prenatal substance use in a Western urban community.

    OpenAIRE

    Buchi, K F; Varner, M W

    1994-01-01

    To assess the extent of prenatal substance use in a predominantly white population in an urban area of the western United States and to develop a risk profile for this population, a cross-sectional prevalence study was done. Prenatal clinics (10 public and 10 private) anonymously recorded demographic information about and collected aliquots of routinely obtained urine specimens from women during prenatal visits. Urine specimens were screened by enzyme immunoassay for amphetamines, marijuana, ...

  4. Prenatal screening and diagnosis analysis of 56 cases of older pregnant women%56例高龄孕妇的产前筛查与诊断结果分析

    Institute of Scientific and Technical Information of China (English)

    吕冬梅

    2014-01-01

    Objective To study the elderly and pregnant women syndrome prenatal screening for Down diagnostic results analysis, provide reference for clinical diagnosis and treatment. Methods In our hospital in January 2012-2013 January Obstetrics prenatal check 56 cases of advanced maternal age, as a pilot study. All subjects underwent amniotic fluid culture and karyotype analysis. Statistical analysis of the results as well as chromosomal karyotype abnormality rate correlation with maternal age. Results 56 cases studied in 17 cases of chromosomal abnormalities, chromosomal abnormality rate of 30.36%; maternal age less than 35 years the rate of 19.23%fetal chromosomal abnormalities, maternal age older than 35 years the rate of 40.00%fetal chromosomal abnormal-ities. Conclusion Maternal age increases the rate of increase in fetal chromosomal abnormalities, it is necessary for advanced ma-ternal age, prenatal screening and diagnostic analysis of results.%目的:研究高龄孕妇进行唐氏综合症产前筛查以及诊断结果的分析,为临床诊断和治疗提供可参考依据。方法选取于我院2012年1月-2013年1月妇产科进行产前检查的56例高龄产妇,作为试验研究对象。所有研究对象均进行羊水培养和核型分析。统计核型分析结果以及染色体异常率与产妇年龄的相关性。结果56例研究对象中17例染色体异常,染色体异常率30.36%;年龄小于35岁产妇的胎儿染色体异常率19.23%,年龄大于35岁产妇的胎儿染色体异常率40.00%。结论产妇年龄增大胎儿染色体异常率上升,有必要对高龄产妇进行产前筛查以及诊断结果分析。

  5. Clinical application of standard prenatal ultrasound in screening the fetal malformation%规范化产前超声筛查胎儿异常的临床应用

    Institute of Scientific and Technical Information of China (English)

    何宇; 魏振彤; 费君伟; 冯丽华; 于晓伟

    2011-01-01

    Objective: To evaluate the clinical value of standardization prenatal ultrasound in screening the fetal malformation. Methods; Totally 2 175 pregnant women were inspected by standardization prenatal ultrasound examination in our hospital during May 2006 to March 2011. Fetal standard ultrasound cuts were saved . The content and form of ultrasound report were standard. These cases were followed to pregnancy ending. Results; 201 cases of fetal structural abnormalities (9. 23% ) were diagnosed by standardization ultrasound examination. 4 cases of fetal attachments abnormalities were diagnosed. The central nervous system malformation ranked first, uro-genital system malformation, fetal edema syndrome, digestive system malformation, cardiac abnormalities were followed Conclusion; The detecting rate of ultrasound screening in standardization prenatal diagnosis is much higher, and it has significant clinical utilities in diagnosing fetal malformation.%目的:评估规范化产前超声筛查胎儿异常的临床应用价值.方法:2006年5月~2011年3月进行规范化超声检查孕妇2 175例,规范化保存胎儿标准切面图片,规范化超声报告的内容和格式并追踪妊娠结局.结果:规范化超声检查胎儿2 175例,发现和产后证实胎儿异常201例(9.23%),其中胎儿附属物异常4例.胎儿畸形类型中中枢神经系统畸形占首位,其次为泌尿系统畸形、胎儿水肿综合征、消化系统畸形、心血管系统畸形.结论:规范化产前超声诊断出生缺陷检出率较高,对于诊断胎儿结构异常有着非常重要的临床价值.

  6. A genetic screen reveals a periplasmic copper chaperone required for nitrite reductase activity in pathogenic Neisseria.

    Science.gov (United States)

    Jen, Freda E-C; Djoko, Karrera Y; Bent, Stephen J; Day, Christopher J; McEwan, Alastair G; Jennings, Michael P

    2015-09-01

    Under conditions of low oxygen availability, Neisseria meningitidis and Neisseria gonorrhoeae are able to respire via a partial denitrification pathway in which nitrite is converted to nitrous oxide. In this process, nitrite reductase (AniA), a copper (Cu)-containing protein converts nitrite to NO, and this product is converted to nitrous oxide by nitric oxide reductase (NorB). NorB also confers protection against toxic NO, and so we devised a conditional lethal screen, using a norB mutant, to identify mutants that were resistant to nitrite-dependent killing. After random-deletion mutagenesis of N. meningitidis, this genetic screen identified a gene encoding a Cu chaperone that is essential for AniA function, AccA. Purified AccA binds one Cu (I) ion and also possesses a second binding site for Cu (II). This novel periplasmic Cu chaperone (AccA) appears to be essential for provision of Cu ions to AniA of pathogenic Neisseria to generate an active nitrite reductase. Apart from the Neisseria genus, AccA is distributed across a wide range of environmental Proteobacteria species. © FASEB.

  7. Genetic modifier screens reveal new components that interact with the Drosophila dystroglycan-dystrophin complex.

    Directory of Open Access Journals (Sweden)

    Mariya M Kucherenko

    Full Text Available The Dystroglycan-Dystrophin (Dg-Dys complex has a capacity to transmit information from the extracellular matrix to the cytoskeleton inside the cell. It is proposed that this interaction is under tight regulation; however the signaling/regulatory components of Dg-Dys complex remain elusive. Understanding the regulation of the complex is critical since defects in this complex cause muscular dystrophy in humans. To reveal new regulators of the Dg-Dys complex, we used a model organism Drosophila melanogaster and performed genetic interaction screens to identify modifiers of Dg and Dys mutants in Drosophila wing veins. These mutant screens revealed that the Dg-Dys complex interacts with genes involved in muscle function and components of Notch, TGF-beta and EGFR signaling pathways. In addition, components of pathways that are required for cellular and/or axonal migration through cytoskeletal regulation, such as Semaphorin-Plexin, Frazzled-Netrin and Slit-Robo pathways show interactions with Dys and/or Dg. These data suggest that the Dg-Dys complex and the other pathways regulating extracellular information transfer to the cytoskeletal dynamics are more intercalated than previously thought.

  8. The minisequencing method: a simple strategy for genetic screening of MEN 2 families

    Directory of Open Access Journals (Sweden)

    Domingues Rita

    2002-05-01

    Full Text Available Abstract Background Multiple endocrine neoplasia type 2 is an autosomal dominant disorder. MEN 2A is characterized by medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism; MEN 2B by medullary thyroid carcinoma, pheochromocytoma and characteristic stigmata. Activating germline mutations of the RET proto oncogene are responsible for this hereditary syndrome. Codon 634 mutations are the most common mutations occurring in MEN 2A families whereas a specific mutation at codon 918 is observed in the great majority of MEN 2B families. Analysis of these codons will provide a final diagnosis in the great majority of affected families making unnecessary further studies. To specifically study the codons 634 and 918 we used a minisequencing method as an alternative method to complete sequencing. Results Using this mutation detection method we were able to reproduce in all cases, representative of 7 families, the information previously obtained by direct sequencing of PCR products. Depending on the number of primers used in the minisequencing reaction, we were able to interrogate either only one nucleotide of the target codon or the three nucleotides simultaneously. Conclusions This technique appears as a simple, rapid and efficient method for genetic screening of MEN 2 families. It can be utilized to seek for unknown mutations at specific codons or to screen for previously identified mutations and is therefore of interest to study index cases or individuals at risk. Results suggest that complete sequencing is unnecessary.

  9. Genetic screening for chromosomal abnormalities and Y chromosome microdeletions in Chinese infertile men.

    Science.gov (United States)

    Fu, Li; Xiong, Da-Ke; Ding, Xian-Ping; Li, Chuang; Zhang, Li-Yuan; Ding, Min; Nie, Shuang-Shuang; Quan, Qiang

    2012-06-01

    To investigate the frequency and type of both chromosomal abnormalities and Y chromosome microdeletions and analyze their association with defective spermatogenesis in Chinese infertile men. This is a single center study. Karyotyping using G-banding and screening for Y chromosome microdeletion by multiplex polymerase chain reaction(PCR)were performed in 200 controls and 1,333 infertile men, including 945 patients with non-obstructive azoospermia and 388 patients with severe oligozoospermia. Out of 1,333 infertile patients, 154(11.55%) presented chromosomal abnormalities. Of these, 139 of 945 (14.71%) were from the azoospermic and 15 of 388 (3.87%) from the severe oligozoospermic patient groups. The incidence of sex chromosomal abnormalities in men with azoospermia was 11.53% compared with 1.03% in men with severe oligozoospermia (P chromosome microdeletions. The incidence of azoospermia factor(AZF) microdeletion was 11.75% and 8.51% in patients with azoospermia and severe oligozoospermia respectively. Deletion of AZFc was the most common and deletions in AZFa or AZFab or AZFabc were found in azoospermic men. In addition, 34 patients had chromosomal abnormalities among the 144 patients with Y chromosome microdeletions. No chromosomal abnormality and microdeletion in AZF region were detected in controls. There was a high incidence (19.80%) of chromosomal abnormalities and Y chromosomal microdeletions in Chinese infertile males with azoospermia or severe oligozoospermia. These findings strongly suggest that genetic screening should be advised to infertile men before starting assisted reproductive treatments.

  10. 不完全型雄激素不敏感综合征产前诊断研究%Genetic analysis and prenatal diagnosis in a family with partial androgen insensitivity syndrome

    Institute of Scientific and Technical Information of China (English)

    吴维青; 华轩; 袁晖; 谢建生

    2016-01-01

    Objective To detect AR gene mutation in 2 patients of a partial androgen insensitivity syndrome family and perform prenatal diagnosis for the high risk fetus.Methods Eight exons and at least 100bp flanking intrinsic sequence of AR gene were screened by PCR and direct sequencing. CAG repeats in exon1 of AR gene was used as a STR marker in linkage analysis. The amniocentesis was performed for determination of genetic gender and linkage analysis. The Fetal genital anomalies were scanned by color Doppler ultrasound.Results No mutation was found in two patients' AR gene. Linkage analysis indicated that the 21 times of CAG repeats was related to the phenotype in this family. The male fetus inherited the 21 times repeat of CAG, and antenatal sonographic diagnosis showed its external genitals was abnormal (micropenis, perineoscrotal hypospadia).Conclusion Male fetus was still diagnosed as PAIS based on the results of linkage analysis and sonographic diagnosis, although no specific mutations of AR gene were detected in PAIS patients.%目的:对不完全型雄激素不敏感综合征(Partial Androgen Insensitivity Syndrome, PAIS)一家系进行病例报道及遗传分析,并对高危胎儿进行产前诊断。方法分析患者雄激素受体(AR)基因序列及第一外显子内的CAG重复,结合核型及产前超声判断胎儿是否罹患PAIS。结果2名患者AR基因编码区及侧翼序列未见异常,男性胎儿获得了与疾病相关的CAG重复次数,超声检查提示其外生殖器发育异常。结论本研究对一个PAIS家系进行了遗传分析,虽未能明确AR基因突变,但连锁分析及产前超声均提示男性胎儿罹患PAIS。本研究可为同样病例的遗传分析、产前诊断和遗传咨询提供借鉴资料。

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

    Institute of Scientific and Technical Information of China (English)

    许遵鹏; 李蓓; 廖灿; 孙茜; 白雪; 李东至

    2014-01-01

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

  12. 上海市浦东新区孕妇参加唐氏综合征产前筛查服务的影响因素%Influencing factors of accepting prenatal screening on Down's syndrome (DS) for the pregnant women in Pudong new area

    Institute of Scientific and Technical Information of China (English)

    黄勤瑾; 梁霁; 杨慧琳; 杨伶俐; 施君瑶; 梁敏红

    2012-01-01

    目的:通过调查社区产后妇女孕期接受唐氏综合征(DS)筛查服务的情况,探索影响DS产前筛查服务的因素.方法:选择上海市浦东新区10个街镇为研究社区,共调查1 397名产后妇女.接受DS筛查服务的情况.结果:从多因素分析结果可见,促进调查对象参加唐氏综合征产前筛查服务利用的因素有:本市户籍(OR=1.91)、文化程度大学本科以上(OR=1.51)、职业为公司职员(OR=1.39)、收入4 000~8 000元/月(OR =2.01)、收入8 000元/月以上(OR=3.20)、有保险(OR=1.40)以及参加过孕妇学校(OR=1.55).结论:降低筛查收费,开展DS产前筛查健康教育,加强外地户籍孕产期保健管理,构建DS产前筛查综合服务模式,可促进DS产前筛查的覆盖,提高服务可及性.%Objective; Through investigating the current situation of postpartum women's participation of DS screening during their pregnancy, to explore the influencing factors of accepting prenatal DS screening. Methods -A total of 1 397 postpartum women from ten street towns of Shanghais Pudong new area were selected. The situation of accepting prenatal DS screening were analyzed. Results: The mult-ivariate analysis results shown that the factors of accepting prenatal DS screening included household registration of Shanghai ( OR = 1.91), education above university degree ( OR = 1.51), occupation with company employee ( OR = 1. 39 ) , income between 4 000 - 8 000 Yuan/ month (OR =2.01) , income above 8 000 Yuan/month (OR =3.20) , had insurance (OR = 1. 40) and had attended school for pregnant women (OR = 1.55) . Conclusion; Reducing screening charge, health education on prenatal DS screening, enhancing nonlocal pregnant period health ?care management and building comprehensive prenatal DS screening service mode can promote the coverage of prenatal DS screening and improve the accessibility of the service.

  13. GAPscreener: An automatic tool for screening human genetic association literature in PubMed using the support vector machine technique

    Directory of Open Access Journals (Sweden)

    Khoury Muin J

    2008-04-01

    Full Text Available Abstract Background Synthesis of data from published human genetic association studies is a critical step in the translation of human genome discoveries into health applications. Although genetic association studies account for a substantial proportion of the abstracts in PubMed, identifying them with standard queries is not always accurate or efficient. Further automating the literature-screening process can reduce the burden of a labor-intensive and time-consuming traditional literature search. The Support Vector Machine (SVM, a well-established machine learning technique, has been successful in classifying text, including biomedical literature. The GAPscreener, a free SVM-based software tool, can be used to assist in screening PubMed abstracts for human genetic association studies. Results The data source for this research was the HuGE Navigator, formerly known as the HuGE Pub Lit database. Weighted SVM feature selection based on a keyword list obtained by the two-way z score method demonstrated the best screening performance, achieving 97.5% recall, 98.3% specificity and 31.9% precision in performance testing. Compared with the traditional screening process based on a complex PubMed query, the SVM tool reduced by about 90% the number of abstracts requiring individual review by the database curator. The tool also ascertained 47 articles that were missed by the traditional literature screening process during the 4-week test period. We examined the literature on genetic associations with preterm birth as an example. Compared with the traditional, manual process, the GAPscreener both reduced effort and improved accuracy. Conclusion GAPscreener is the first free SVM-based application available for screening the human genetic association literature in PubMed with high recall and specificity. The user-friendly graphical user interface makes this a practical, stand-alone application. The software can be downloaded at no charge.

  14. A Genetic Screen for Mutants with Supersized Lipid Droplets in Caenorhabditis elegans

    Science.gov (United States)

    Li, Shiwei; Xu, Shibin; Ma, Yanli; Wu, Shuang; Feng, Yu; Cui, Qingpo; Chen, Lifeng; Zhou, Shuang; Kong, Yuanyuan; Zhang, Xiaoyu; Yu, Jialei; Wu, Mengdi; Zhang, Shaobing O.

    2016-01-01

    To identify genes that regulate the dynamics of lipid droplet (LD) size, we have used the genetically tractable model organism Caenorhabditis elegans, whose wild-type LD population displays a steady state of size with an upper limit of 3 μm in diameter. From a saturated forward genetic screen of 6.7 × 105 mutagenized haploid genomes, we isolated 118 mutants with supersized intestinal LDs often reaching 10 μm. These mutants define nine novel complementation groups, in addition to four known genes (maoc-1, dhs-28, daf-22, and prx-10). The nine groups are named drop (lipid droplet abnormal) and categorized into four classes. Class I mutants drop-5 and drop-9, similar to prx-10, are up-regulated in ACS-22-DGAT-2-dependent LD growth, resistant to LD hydrolysis, and defective in peroxisome import. Class II mutants drop-2, drop-3, drop-6, and drop-7 are up-regulated in LD growth, are resistant to LD hydrolysis, but are not defective in peroxisome import. Class III mutants drop-1 and drop-8 are neither up-regulated in LD growth nor resistant to LD hydrolysis, but seemingly up-regulated in LD fusion. Class IV mutant drop-4 is cloned as sams-1 and, different to the other three classes, is ACS-22-independent and hydrolysis-resistant. These four classes of supersized LD mutants should be valuable for mechanistic studies of LD cellular processes including growth, hydrolysis, and fusion. PMID:27261001

  15. A Genetic Screen for Mutants with Supersized Lipid Droplets in Caenorhabditis elegans

    Directory of Open Access Journals (Sweden)

    Shiwei Li

    2016-08-01

    Full Text Available To identify genes that regulate the dynamics of lipid droplet (LD size, we have used the genetically tractable model organism Caenorhabditis elegans, whose wild-type LD population displays a steady state of size with an upper limit of 3 μm in diameter. From a saturated forward genetic screen of 6.7 × 105 mutagenized haploid genomes, we isolated 118 mutants with supersized intestinal LDs often reaching 10 μm. These mutants define nine novel complementation groups, in addition to four known genes (maoc-1, dhs-28, daf-22, and prx-10. The nine groups are named drop (lipid droplet abnormal and categorized into four classes. Class I mutants drop-5 and drop-9, similar to prx-10, are up-regulated in ACS-22-DGAT-2-dependent LD growth, resistant to LD hydrolysis, and defective in peroxisome import. Class II mutants drop-2, drop-3, drop-6, and drop-7 are up-regulated in LD growth, are resistant to LD hydrolysis, but are not defective in peroxisome import. Class III mutants drop-1 and drop-8 are neither up-regulated in LD growth nor resistant to LD hydrolysis, but seemingly up-regulated in LD fusion. Class IV mutant drop-4 is cloned as sams-1 and, different to the other three classes, is ACS-22-independent and hydrolysis-resistant. These four classes of supersized LD mutants should be valuable for mechanistic studies of LD cellular processes including growth, hydrolysis, and fusion.

  16. 孕中期复杂性先心病的产前超声筛查%Ultrasound Prenatal Screening for Complex Congenital Heart Disease During the Second Trimester

    Institute of Scientific and Technical Information of China (English)

    孟昕

    2014-01-01

    目的:探讨孕中期超声对复杂性先天性心脏病的筛查作用,提高复杂性先心病的检出率。方法2010年10月至2013年10月期间,我院7295例孕妇于孕21~40周,分别进行对照组(月超检查)和观察组(通过美国G耘灾燥造怎泽燥灶730彩色多普勒超声诊断仪,通过心脏超声筛查的5个标准切面,发现异常心脏节段,再通过彩色多普勒血流信号,观察房室、大动脉血流情况,分析先天性心脏病类型)检查。产前超声诊断结果与本院尸检结果,进行对比分析。结果与对照组相比,观察组复杂性先天性心脏病的临床诊断率明显升高(0.27豫增泽.0.12豫),差异有统计学意义(孕<0.05)。7295例胎儿检出20例复杂性先天性心脏病,其中6例合并心外畸形,14例本院引产,其尸检结果与产前超声诊断结果相一致。结论复杂性先天性心脏病的畸形情况多变,超声分段检查结合彩色多普勒超声的产前超声筛查能够有效提高复杂性先心病的检出率。%Objective To explore the effect of ultrasound prenatal screening for complex congenital heart disease during the second trimester, and to improve the detection rate of complex congenital heart disease. Methods From October 2010 to October 2013, 7 295 pregnant women (pregnant between 21~40 weeks) in our hospital received the B-ultrasonic examination (control group) and color Doppler ultrasonography (GE Voluson 730) examination (observation group) respectively. Color Doppler ultrasonography examination found out abnormal heart segments through screening five standard section of cardiac ultrasound, then by color Doppler flow signals, the atrioventricular and aortic blood flow situation were observed, and the types of congenital heart disease were analyzed. Prenatal ultrasound diagnosis results and hospital autopsy results were taken for comparative analysis. Results Compared with the control group, the clinical diagnosis

  17. Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.

    Science.gov (United States)

    Trujillano, Daniel; Weiss, Maximilian E R; Köster, Julia; Papachristos, Efstathios B; Werber, Martin; Kandaswamy, Krishna Kumar; Marais, Anett; Eichler, Sabrina; Creed, Jenny; Baysal, Erol; Jaber, Iqbal Yousuf; Mehaney, Dina Ahmed; Farra, Chantal; Rolfs, Arndt

    2015-09-01

    Genetic testing for cystic fibrosis and CFTR-related disorders mostly relies on laborious molecular tools that use Sanger sequencing to scan for mutations in the CFTR gene. We have explored a more efficient genetic screening strategy based on next-generation sequencing (NGS) of the CFTR gene. We validated this approach in a cohort of 177 patients with previously known CFTR mutations and polymorphisms. Genomic DNA was amplified using the Ion AmpliSeq™ CFTR panel. The DNA libraries were pooled, barcoded, and sequenced using an Ion Torrent PGM sequencer. The combination of different robust bioinformatics tools allowed us to detect previously known pathogenic mutations and polymorphisms in the 177 samples, without detecting spurious pathogenic calls. In summary, the assay achieves a sensitivity of 94.45% (95% CI: 92% to 96.9%), with a specificity of detecting nonvariant sites from the CFTR reference sequence of 100% (95% CI: 100% to 100%), a positive predictive value of 100% (95% CI: 100% to 100%), and a negative predictive value of 99.99% (95% CI: 99.99% to 100%). In addition, we describe the observed allelic frequencies of 94 unique definitely and likely pathogenic, uncertain, and neutral CFTR variants, some of them not previously annotated in the public databases. Strikingly, a seven exon spanning deletion as well as several more technically challenging variants such as pathogenic poly-thymidine-guanine and poly-thymidine (poly-TG-T) tracts were also detected. Targeted NGS is ready to substitute classical molecular methods to perform genetic testing on the CFTR gene.

  18. Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing.

    Science.gov (United States)

    Leo, Michael C; McMullen, Carmit; Wilfond, Benjamin S; Lynch, Frances L; Reiss, Jacob A; Gilmore, Marian J; Himes, Patricia; Kauffman, Tia L; Davis, James V; Jarvik, Gail P; Berg, Jonathan S; Harding, Cary; Kennedy, Kathleen A; Simpson, Dana Kostiner; Quigley, Denise I; Richards, C Sue; Rope, Alan F; Goddard, Katrina A B

    2016-03-01

    Advances in genome sequencing and gene discovery have created opportunities to efficiently assess more genetic conditions than ever before. Given the large number of conditions that can be screened, the implementation of expanded carrier screening using genome sequencing will require practical methods of simplifying decisions about the conditions for which patients want to be screened. One method to simplify decision making is to generate a taxonomy based on expert judgment. However, expert perceptions of condition attributes used to classify these conditions may differ from those used by patients. To understand whether expert and patient perceptions differ, we asked women who had received preconception genetic carrier screening in the last 3 years to fill out a survey to rate the attributes (predictability, controllability, visibility, and severity) of several autosomal recessive or X-linked genetic conditions. These conditions were classified into one of five taxonomy categories developed by subject experts (significantly shortened lifespan, serious medical problems, mild medical problems, unpredictable medical outcomes, and adult-onset conditions). A total of 193 women provided 739 usable ratings across 20 conditions. The mean ratings and correlations demonstrated that participants made distinctions across both attributes and categories. Aggregated mean attribute ratings across categories demonstrated logical consistency between the key features of each attribute and category, although participants perceived little difference between the mild and serious categories. This study provides empirical evidence for the validity of our proposed taxonomy, which will simplify patient decisions for results they would like to receive from preconception carrier screening via genome sequencing.

  19. Psychosocial Aspects of Hereditary Cancer (PAHC) questionnaire: development and testing of a screening questionnaire for use in clinical cancer genetics

    NARCIS (Netherlands)

    Eijzenga, W.; Bleiker, E.M.A.; Hahn, D.E.E.; Kluijt, I.; Sidharta, G.N.; Gundy, C.; Aaronson, N.K.

    2014-01-01

    Background: Up to three-quarters of individuals who undergo cancer genetic counseling and testing report psychosocial problems specifically related to that setting. The objectives of this study were to develop and evaluate the screening properties of a questionnaire designed to assess specific psych

  20. Use of the Photoactic Ability of a Bacterium to Teach the Genetic Principles of Random Mutagenesis & Mutant Screening

    Science.gov (United States)

    Din, Neena; Bird, Terry H.; Berleman, James E.

    2007-01-01

    In this article, the authors present a laboratory activity that relies on the use of a very versatile bacterial system to introduce the concept of how mutagenesis can be used for molecular and genetic analysis of living organisms. They have used the techniques of random mutagenesis and selection/screening to obtain strains of the organism "R.…

  1. [The clinical and molecular genetic characteristics of phenylketonuria patients in the Republic of Crimea].

    Science.gov (United States)

    Afanas'eva, N A; Bychkova, A M; Livshits, L A; Bariliak, I R

    1998-01-01

    The clinical and genetical characteristics of patients with phenylketonuria in the Crimean population is done in the present work. The comparison of clinical peculiarities of 28 patients, revealed by means of neonatal screening and that of 24 patients, the treatment of which was started late is presented. The prenatal diagnostics of 4 families with high phenylketonuria risk is conducted.

  2. It's More Than a Blood Test: Patients' Perspectives on Noninvasive Prenatal Testing.

    Science.gov (United States)

    Farrell, Ruth M; Mercer, Mary Beth; Agatisa, Patricia K; Smith, Marissa B; Philipson, Elliot

    2014-06-19

    Noninvasive prenatal testing (NIPT) offers pregnant women a new risk assessment tool for fetal aneuploidy that is superior to conventional screening tests. We conducted focus groups with women who were currently pregnant or had recently delivered in the past year to characterize their perspectives about NIPT and to explore factors they would consider during decision making about its use. Women identified accuracy, early timing, testing ease, and determination of fetal sex as advantages of NIPT over other screens, and the noninvasive method of NIPT as an advantage over diagnostic tests. False positive and false negative results, anxiety, cost and insurance coverage were seen as disadvantages of NIPT. Women who do not want fetal aneuploidy information most likely will not undergo NIPT, despite its advantages over other screening tests. However, given its advantages, the decision to have NIPT is straightforward for women who want genetic information about the fetus. Women emphasized the need to make autonomous, private, and informed choices about NIPT, as they would with any prenatal genetic testing option. These perspectives may guide clinicians to conduct effective and clinically relevant counseling with pregnant women who consider utilizing this new genetic technology.

  3. It’s More Than a Blood Test: Patients’ Perspectives on Noninvasive Prenatal Testing

    Directory of Open Access Journals (Sweden)

    Ruth M. Farrell

    2014-06-01

    Full Text Available Noninvasive prenatal testing (NIPT offers pregnant women a new risk assessment tool for fetal aneuploidy that is superior to conventional screening tests. We conducted focus groups with women who were currently pregnant or had recently delivered in the past year to characterize their perspectives about NIPT and to explore factors they would consider during decision making about its use. Women identified accuracy, early timing, testing ease, and determination of fetal sex as advantages of NIPT over other screens, and the noninvasive method of NIPT as an advantage over diagnostic tests. False positive and false negative results, anxiety, cost and insurance coverage were seen as disadvantages of NIPT. Women who do not want fetal aneuploidy information most likely will not undergo NIPT, despite its advantages over other screening tests. However, given its advantages, the decision to have NIPT is straightforward for women who want genetic information about the fetus. Women emphasized the need to make autonomous, private, and informed choices about NIPT, as they would with any prenatal genetic testing option. These perspectives may guide clinicians to conduct effective and clinically relevant counseling with pregnant women who consider utilizing this new genetic technology.

  4. Noninvasive screening tools for Down syndrome: a review

    Directory of Open Access Journals (Sweden)

    Smith M

    2013-03-01

    Full Text Available Meagan Smith, Jeannie Visootsak Emory University, Department of Human Genetics, Atlanta, GA, USA Abstract: Down syndrome is the leading cause of prenatal chromosome abnormalities, accounting for 53% of all reported chromosome conditions. Testing strategies, guidelines, and screening options have expanded from their conception in the 1970s, and now include such options as anatomical ultrasound, maternal serum screening, and noninvasive prenatal testing. This review summarizes all currently available noninvasive diagnostic techniques for the detection of Down syndrome. By understanding fully each technology and the possible alternatives, the physician will be able to provide their patients with all the information necessary to make an informed decision regarding their medical management. Keywords: Down syndrome, noninvasive screening, diagnostic techniques

  5. 血管前置的产前超声筛查与诊断%Prenatal ultrasound screening and diagnosis of vasa previa

    Institute of Scientific and Technical Information of China (English)

    李胜利; 陈秀兰; 文华轩

    2011-01-01

    血管前置是导致围产儿死亡的一个危险因素,经阴道分娩围产儿死亡率高.超声检查是产前诊断血管前置最可靠且简便、易推广的检查方法.当产前超声检查发现低置胎盘、双叶胎盘、副胎盘、多叶胎盘、多胎妊娠、帆状胎盘等高危发病因素时,需详细检查宫颈内口,常规的检查方法是经腹超声检查,当因胎先露阻挡等原因显示宫颈内口不满意时,需结合经会阴超声检查或经阴道超声检查;经阴道超声检查是该3种检查方法中最可靠的显示方法,但合并阴道活动性出血或宫颈机能不全时不宜使用.对于产前诊断血管前置的病例,建议于临产前行选择性剖宫产术.%Vasa previa is a dangerous factor which may result in fetal demise. Vaginal delivery may lead to high fetal mortality. Ultrasound is the most reliable, simple and generalized way for diagnosis of prenatal vasa previa. If the following high risk factors are detected by prenatal ultrasound, such as low lying placenta, bi-lobed placenta, succenturiate lobe, multi-lobed placenta, multiple pregnancy and velamentous insertion of the cord, the internal cervical os is necassary for examination. Transabdominal ultrasound is the routine way to observe the internal cervical os. But if internal cervical os is not satisfied to observe internal cervical os because of fetal presentation,transperineal or transvaginal ultrasound is recommended. Transvaginal ultrasound is the most reliable way. However, it is not recommended to perform once the mother is complicated with active bleeding or cervical incompetence. Elective caesarean section should be offered prior to the onset of labour for cases that have been diagnosed of prenatal vasa previa.

  6. 孕中期产前筛查母血清标志物中位数分析%Analysis on medians of serum markers in prenatal screening during the second trimester of pregnancy

    Institute of Scientific and Technical Information of China (English)

    樊国萍

    2012-01-01

    Objective: To analyze the results of serum markers in prenatal triple screening during the second trimester of pregnancy among normal pregnant women in the region, explore the applicability of medians embedded into current software used for Downs syndrome screening. Methods: Chemiluminescence was used to detect the levels of serum alpha — fetoprotein (AFP) , p — human chorionic gonadotro-pin ((3-HCG) , and free estriol in 2 384 pregnant women atl4-21+6 gestational weeks, the medians were determined according to gesta-tional age, then the results were compared with software embedded medians. Results; There was significant difference between the medians of serum markers of normal pregnant women in the region and software embedded medians (AFP; P 0.05) . Conclusion: The laboratories in different regions should establish their own criteria for medians of serum markers to improve the quality of prenatal screening.%目的:回顾性分析该地区正常孕妇孕中期母血清产前三联筛查结果,探讨目前采用的唐氏筛查软件内嵌中位数的适用性.方法:采用化学发光法对2 384例(14~21+6周)孕妇血清中甲胎蛋白(AFP)、人绒毛膜促性腺激素(β-HCG)和游离雌三醇(uE3)进行检测,分别按孕龄确定其中位数并与软件内嵌中位数进行比较.结果:该地区正常孕妇血清标志物的中位数与软件给定的中位数有差异(P值:AFP<0.05,uE3 <0.01,β-HCG>0.05).结论:各地区实验室应建立自己的中位数标准,从而提高产前筛查质量.

  7. 产前筛查5928例结果与影响因素分析%Analysis of prenatal screening results and influence factors of 5 928 cases

    Institute of Scientific and Technical Information of China (English)

    杭春梅

    2015-01-01

    目的:探讨使用软件模型对孕中期孕妇产前筛查唐氏综合征的风险评估价值。方法:收治孕妇5928例,分别对孕妇的多项血清学指标进行检测,并以之为独立变量,用LifeCycle评估软件,对孕中期胎儿发生唐氏综合征的风险进行评估。结果:5928例孕妇中,唐氏综合征高风险孕妇252例,筛查的阳性率4.25%;产前经羊水穿刺细胞培养确诊2例。结论:孕中期孕妇进行唐氏综合征的筛查具有重要作用,能够对胎儿患唐氏综合征的风险进行有效估计和预测,是预防唐氏综合征的重要途径。%Objective:To explore the risk assessment value of soft machine model used for prenatal screening for Down's syndrome in the second trimester pregnant women.Methods:5 928 cases of pregnant women were selected.A number of serological indexes of pregnant women were detected.They were considered as independent variables,with LifeCycle assessmen software. Down's syndrome risk was assessed at the second trimester.Results:In 5 928 cases of pregnant women,pregnant women with high risk of Down's syndrome were in 252 cases,and the positive rate of screening was 4.25%;2 cases were confirmed by prenatal amniocentesis cell culture.Conclusion:Screening for Down's syndrome of the second trimester pregnant women has an important role.It can effectively evaluate the risk of Down syndrome rates.It is an important way to prevent Down's syndrome.

  8. 内蒙古地区孕中期产前筛查研究分析%ANALYSIS OF PRENATAL SCREENING OF MID PREGNANCY WOMEN IN INNER MONGOLIA REGION

    Institute of Scientific and Technical Information of China (English)

    武艾宁; 赵晓曦; 于荣鑫

    2016-01-01

    Objective:To discuss the positive rate of birth defects through the serological screening results of the pregnant metaphase women in our hospital,and provide prenatal intervention evidence for reducing birth defects. Methods:Full automatic time-resolved fluorescence immunoassay ( DELFIA ) was used in serum examination of mid pregnancy women, and using the Lifecycle risk assessment software to calculate the risk rate of 21-three body syndrome ( DS ) , 18-three body syndrome ( Edward) , neural tube defects ( NTD ) and other defects of fetus, ultrasound and amniotic fluid karyotype detection would be done in the pregnant women with high-risk for further diagnosis. Results:251 cases were detected with high-risk in 8100 cases,the positive rate was 3. 09%. 18 and 21-three body syndrome and NTD screening positive rate was 2 . 21% ( 179/8100 ) , 0 . 35% ( 28/8100 ) and 0. 54%(44/8100) respectively. Through the prenatal diagnosis,the results confirmed 21-three body syndrome in 3 cases,1 case of NTD,1 case of 13-three body syndrome and 1 case of inversion between the arms in 251 cases with high-risk. 1 case of DS was leakage screen after follow-up for low-risk pregnant women. Conclusion:21-three body syndrome(DS)has high incidence of birth defects,mid pregnancy prenatal serological screening is one of the important means to predict birth defects and has important clinical value to reduce birth defects.%目的::通过对我院孕中期孕妇的血清学筛查结果进行分析,探讨出生缺陷的阳性检出率特征,为最大限度降低出生缺陷率提供产前干预依据。方法:采用全自动时间分辨荧光免疫分析法( DELFIA)对孕中期孕妇血清进行三联筛查,利用美国Lifecycle风险评估软件计算21-三体综合征( Down`s sgndrome DS)、18-三体综合征( Edward)、神经管畸形( neural tube defects NTD)等缺陷在胎儿中的风险率,高风险者进一步行B超检查、羊水核型检测等方法进行

  9. Later Prenatal Checkups

    Science.gov (United States)

    ... report card Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ... Last reviewed: May, 2011 Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ...

  10. Prenatal Care Checkup

    Science.gov (United States)

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

  11. Prenatal ultrasound - slideshow

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/presentations/100197.htm Prenatal ultrasound - series—Procedure, part 1 To use the sharing ... Editorial team. Related MedlinePlus Health Topics Prenatal Testing Ultrasound A.D.A.M., Inc. is accredited by ...

  12. Rapid prenatal genetic diagnosis of a fetus with a high risk for Morquio A syndrome%一例Morquio A综合征高危胎儿的快速产前基因诊断

    Institute of Scientific and Technical Information of China (English)

    郭奕斌; 艾阳; 赵燕; 唐佳; 蒋玮莹; 杜敏联; 马华梅; 钟燕芳

    2012-01-01

    Objective To provide rapid and accurate prenatal genetic diagnosis for a fetus with high risk of Morquio A syndrome.Methods Based on ascertained etiology of the proband and genotypes of the parents,particular mutations of the GALNS gene were screened at 10th gestational week with amplification refractory mutation system (ARMS),denaturing high performance liquid chromatography (DHPLC),and direct DNA sequencing. Results DHPLC screening has identified abnormal double peaks in the PCR products of exons 1 and 10,whilst only a single peak was detected in normal controls.Amplification of ARMS-specific primers derived a specific product for the fetus' s gene,whilst no similar product was detected in normal controls.Sequencing of PCR products confirmed that exons 1 and 10 of the GALNS gene from the fetus contained a heterozygous paternal c.106-111 del (p.L36-L37 del) deletion and a heterozygous maternal c.1097 T>C (p.L366P) missense mutation,which resulted in a compound heterozygote status.Conclusion The fetus was diagnosed with Morquio A syndrome and a genotype similar to the proband.Termination of the pregnancy was recommended. Combined ARMS,DHPLC and DNA sequencing are effective for rapid and accurate prenatal diagnosis for fetus with a high risk for Morquio A syndrome.Such methods are particularly suitable for early diagnosis when pathogenesis is clear.Furthermore,combined ARMS and DHPLC are suitable for rapid processing of large numbers of samples for the identification of new mutations.%目的 快速、准确地对Morquio A综合征[又称黏多糖贮积症Ⅳ A型(mucopolysaccharidosis typeⅣ A,MPSⅣ A)]高危胎儿做出产前基因诊断,从而及时而高效地防止患儿的出生,以最大程度减少流产对母体的伤害.同时,为今后的植入前遗传学诊断(preimplantation genetic diagnosis,PGD)创造必要的前提条件.方法 在明确先证者病因及其父母基因型的基础上,应用已建立的

  13. Application of non-invasive prenatal DNA test in screening of Down's syndrome%无创 DNA产前检测技术在诊断胎儿唐氏综合征中的应用

    Institute of Scientific and Technical Information of China (English)

    王艳; 窦肇华; 蒋智; 王大伟; 侯朝辉; 于剑飞; 刘建; 曹志生; 夏超群; 张晋玚; 商微

    2014-01-01

    Objective:To explore application value of non-invasive prenatal test in screening of Down ' s syndrome through using high-throughput sequencing technique to test fetal free DNA in maternal Peripheral blood. Methods:A total of 115 cases with singleton pregnancies, whose fetuses were at high risk of Down's syndrome by prenatal serological and B ultrasound screening, were se-lected. Their plasma was sampled for the non-invasive prenatal DNA test, and amniotic fluid was also collected for the chromosome karyotype analysis, wherein the result of the latter was used as a "gold standard". The results of the non-invasive prenatal DNA test and the chromosome karyotype analysis were compared and analyzed. The percentage of fetal DNA in the total maternal circulating DNA was inferred by calculating the number of reads mapped to Y chromosome. Results: In the 115 cases, there were 15 cases judged as high-risk Down's syndrome for their fetuses and 100 cases judged as low-risk Down's syndrome for their fetuses through the non-inva-sive prenatal DNA tes;and in the 100 cases, their G band karyotypes were all normal, however, in the 15 case, 14 cases were finally diagnosed as Down's syndrome through the chromosome karyotype analysis. Conclusions:The new non-invasive prenatal DNA test for Down's syndrome has the same sensitivity and specificity with the chromosome karyotype analysis of the aminotic cells; it has the ad-vantages of safety, non-invasion, and high throughput, therefore, it has a wider clinical application value. However, a further amnio-centesis confirmation is definitely required for the high-risk case identified by the non-invasive prenatal test.%目的:利用高通量测序技术检测孕妇外周血中的胎儿游离 DNA,探讨唐氏综合征无创产前检测的应用价值。方法:选择唐氏综合征高风险而进行确定诊断的单胎孕妇115例,用孕妇血浆进行无创DNA产前检测。同时,采集羊水,进行染色体核

  14. 血清学筛查与胎儿超声检查在18、13三体综合征产前诊断中的应用%Serologic Screening with Fetal Ultrasound Screening in the Prenatal Diagnosis of Edwards Syndrome and Patau Syndrome

    Institute of Scientific and Technical Information of China (English)

    钟萍; 林毅; 田葆东

    2011-01-01

    Objective;To explore the efficacy of serologic screening with fetal ultrasound screening in the prenatal diagnosis of edwards syndrome and patau syndrome. Methods:①78 pregnant women with high-risk of edwards syndrome or patau syndrome by prenatal serological screening who refused to make prenatal diagnosis were followed up (Group A).②56 pregnant women with abnormal fetal ultrasound findings (Group B) and, 134 pregnant women with high risk of edwards syndrome/ patau syndrome by prenatal serological screening (Group C) were underwent chromosome analysis after amniocentesis or puncture of umbilical cord from 18 to 32 weeks. Results;In high risk of 18 trisomy by serological screening, 2 cases with abnormal ultrasound findings terminated the pregnancy, 1 newborn had congenital heart disease after birth in group A. In group B, 3 cases were with 18 trisomy, 3 cases were with 13 trisomy and 7 cases were with the other chromosome abnormality. The incidence of abnormal findings was 23 .21 % (13/56) .Among them, 2 cases with 18 trisomy complicated with high risk of serological screening. In group C, 4 cases were with fetal abnormality, among them 2 cases were conformed diagnosed as 18 trisomy. The incidence of abnormality was2.99%(4/134).Conclusions:It is an effective method to detect 18, 13 trisomy by serum biochemical indicators screening in gravida and fetal ultrasound examination.%目的:探讨利用孕妇血清学筛查和胎儿超声检查进行18、13三体综合征胎儿产前诊断的有效性.方法:①对78例(A组)产前血清学筛查18、13三体高风险孕妇,拒绝进行产前诊断的孕妇进行随访观察.②对56例(B组)首诊主诉胎儿超声检查有结构异常的孕妇、134例(C组)首诊主诉为产前血清学筛查胎儿18三体高风险的孕妇,于孕18 ~32周行羊膜腔穿刺羊水细胞培养,或脐血管穿刺脐血细胞培养染色体分析.结果:A组的18三体筛查高风险孕妇有2例出现B超检

  15. Prenatal Genetic Counseling (For Parents)

    Science.gov (United States)

    ... every physical and biological characteristic of that person. Humans have 46 chromosomes, arranged in pairs in every living cell of ... from each parent. This newly formed combination of chromosomes then copies itself ... science suggests that every human has about 25,000 genes per cell. An ...

  16. Prenatal Genetic Counseling (For Parents)

    Science.gov (United States)

    ... are: Down syndrome cystic fibrosis sickle cell disease Tay-Sachs disease (a fatal disease affecting the central ... disorders, including cystic fibrosis, sickle cell anemia, and Tay-Sachs disease, cannot occur unless both the mother ...

  17. A Genetic Screen To Assess Dopamine Receptor (DopR1 Dependent Sleep Regulation in Drosophila

    Directory of Open Access Journals (Sweden)

    Yiqin Jiang

    2016-12-01

    Full Text Available Sleep is an essential behavioral state of rest that is regulated by homeostatic drives to ensure a balance of sleep and activity, as well as independent arousal mechanisms in the central brain. Dopamine has been identified as a critical regulator of both sleep behavior and arousal. Here, we present results of a genetic screen that selectively restored the Dopamine Receptor (DopR/DopR1/dumb to specific neuroanatomical regions of the adult Drosophila brain to assess requirements for DopR in sleep behavior. We have identified subsets of the mushroom body that utilizes DopR in daytime sleep regulation. These data are supported by multiple examples of spatially restricted genetic rescue data in discrete circuits of the mushroom body, as well as immunohistochemistry that corroborates the localization of DopR protein within mushroom body circuits. Independent loss of function data using an inducible RNAi construct in the same specific circuits also supports a requirement for DopR in daytime sleep. Additional circuit activation of discrete DopR+ mushroom body neurons also suggests roles for these subpopulations in sleep behavior. These conclusions support a new separable function for DopR in daytime sleep regulation within the mushroom body. This daytime regulation is independent of the known role of DopR in nighttime sleep, which is regulated within the Fan-Shaped Body (FSB. This study provides new neuroanatomical loci for exploration of dopaminergic sleep functions in Drosophila, and expands our understanding of sleep regulation during the day vs. night.

  18. 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.

  19. 43例耳聋家庭再生育前的遗传学分析与指导%Prenatal genetic counseling and instruction for deaf families by genetic test

    Institute of Scientific and Technical Information of China (English)

    韩明昱; 黄莎莎; 王国建; 袁永一; 康东洋; 张昕; 戴朴

    2011-01-01

    Objective Analyzed the molecular pathogenesis of probands by means of genetic test and assisted the local Family Planning Institute by providing prenatal genetic counseling and instruction for deaf families who eager to have more baby.Methods Total of forty-three deaf families were recruited by two institutes for family planning from Guangzhou and Weifang.Forty-two families had one deaf child with normal hearing parents.One family was that parents and their child were all deaf.Genetic testing of GJB2,SLC26A4 and mitochondrial DNA(mtDNA) 12SrRNA were firstly performed in probands and their parents,following medical history,physical examination,auditory test and CT scan of temporal bone were completed.And then the genetic information and instruction were provided to each deaf family.Results Fifteen of these 43 families had positive results of genetic test.In fifteen families,one family was confirmed that the parents and their child all carried homozygous GJB2 mutations and the recurrence risk was 100%.Twelve families were confirmed that the probands carried homozygous/compound GJB2 or SLC26A4 mutations while their parents were GJB2 or SLC26A4 carriers,and the recurrence risk was 25%.One family was confirmed that the proband,diagnosed with enlarged vestibular aqueduct syndrome (EVAS) by CT scan,carried heterozygous SLC26A4 mutation from the mother,and the recurrence risk was still 25% based on the hereditary pattern of EVAS although another SLC26A4 mutation from the father was not found.One family was confirmed that the proband carried a heterozygous GJB2 mutation from the mother and the possibility to be GJB2 carrier for offsprings was 50%.The rest 28 families were that all probands and their parents did not carry GJB2,SLC26A4 and mtDNA 12SrRNA pathological mutation.Conclusions Genetic testing can provide more accurate and useful prenatal genetic counseling and instruction to deaf families.Meanwhile,it is an ideal way to develop a cooperative relationship

  20. Cost-Effectiveness of Old and New Technologies for Aneuploidy Screening.

    Science.gov (United States)

    Sinkey, Rachel G; Odibo, Anthony O

    2016-06-01

    Cost-effectiveness analyses allow assessment of whether marginal gains from new technology are worth increased costs. Several studies have examined cost-effectiveness of Down syndrome (DS) screening and found it to be cost-effective. Noninvasive prenatal screening also appears to be cost-effective among high-risk women with respect to DS screening, but not for the general population. Chromosomal microarray (CMA) is a genetic sequencing method superior to but more expensive than karyotype. In light of CMAs greater ability to detect genetic abnormalities, it is cost-effective when used for prenatal diagnosis of an anomalous fetus. This article covers methodology and salient issues of cost-effectiveness. Copyright © 2016 Elsevier Inc. All rights reserved.

  1. Genetic studies of Polish migraine patients: screening for causative mutations in four migraine-associated genes.

    Science.gov (United States)

    Domitrz, Izabela; Kosiorek, Michalina; Żekanowski, Cezary; Kamińska, Anna

    2016-01-08

    Migraine is the most common neurological disorder, affecting approximately 12 % of the adult population worldwide, caused by both environmental and genetic factors. Three causative genes have been identified in familial hemiplegic migraine (FHM) families: CACNA1A, ATP1A2, and SCNA1A. Recently, several mutations in KCNK18 have also been found as causative factors in migraine development. The aim of our study was to identify the genetic background of migraine in the Polish population. Sixty patients with migraine without aura (MO) or with different types of migraine with aura (MA), including sporadic hemiplegic, familial hemiplegic, and probable familial hemiplegic, were screened for mutations in the four genes previously linked with different types of migraine (ATP1A2, CACNA1A, SCN1A, and KCNK18). Two missense mutations were found. One novel mutation in SCN1A, encoding α subunit of sodium channel, causing amino acid change M1500V localized to a region encoding inactivation loop between transmembrane domains III and IV of the channel, was detected in a female FHM patient. The M1500V mutation was absent in a group of 62 controls, as well as in the ExAC database. The second, already known missense mutation S231P in KCNK18 was found in a female MA patient. Additionally, a novel intronic polymorphism possibly affecting alternative splicing of SCN1A, at chr2:16685249, g.77659T>C, and c.4581+32A>G, located between exons 24 and 25, in a region encoding the inactivation loop of the sodium channel was found in a female MO patient. No mutations in ATP1A2 or CACNA1A were found in the study group. The presence of SCN1A mutations and absence of mutations in ATP1A2 or CACNA1A suggest that the Polish patients represent FHM type 3. On the other hand, the presence of KCNK18 mutation indicated another FHM subtype. It could be speculated that contrary to other European populations, the genetic basis of migraine in the Polish population involves mutations in genes not included in the

  2. Screening and genetic manipulation of green organisms for establishment of biological life support systems in space.

    Science.gov (United States)

    Saei, Amir Ata; Omidi, Amir Ali; Barzegari, Abolfazl

    2013-01-01

    Curiosity has driven humankind to explore and conquer space. However, today, space research is not a means to relieve this curiosity anymore, but instead has turned into a need. To support the crew in distant expeditions, supplies should either be delivered from the Earth, or prepared for short durations through physiochemical methods aboard the space station. Thus, research continues to devise reliable regenerative systems. Biological life support systems may be the only answer to human autonomy in outposts beyond Earth. For construction of an artificial extraterrestrial ecosystem, it is necessary to search for highly adaptable super-organisms capable of growth in harsh space environments. Indeed, a number of organisms have been proposed for cultivation in space. Meanwhile, some manipulations can be done to increase their photosynthetic potential and stress tolerance. Genetic manipulation and screening of plants, microalgae and cyanobacteria is currently a fascinating topic in space bioengineering. In this commentary, we will provide a viewpoint on the realities, limitations and promises in designing biological life support system based on engineered and/or selected green organism. Special focus will be devoted to the engineering of key photosynthetic enzymes in pioneer green organisms and their potential use in establishment of transgenic photobioreactors in space.

  3. Successful birth of South India's first twins after preimplantation genetic screening of embryos

    Directory of Open Access Journals (Sweden)

    Priya Selvaraj

    2016-01-01

    Full Text Available We report the first documented successful birth of twins following preimplantation genetic screening (PGS of cleavage stage embryos by array comparative genomic hybridization (CGH technology, in South India. The case was a 28-year-old woman with the previous history of preclinical pregnancy and a miscarriage in two attempted in vitro fertilization cycles. Day 3 cleavage stage embryos were generated by conventional long protocol with the use of a gonadotropin-releasing hormone analog and a combination of recombinant folliculotropins and human menopausal gonadotropins. Intracytoplasmic sperm injection of oocytes thus obtained was performed, and 10 selected embryos underwent PGS using the array CGH technique. Two normal blastocysts were transferred to the patient, and she conceived twins. She delivered at 35 weeks of gestation by elective cesarean on November 19, 2014. She delivered a healthy male and female baby weighing 2.19 kg and 2.26 kg, respectively. Postnatal evaluation of babies was also normal, and the hospital course was uneventful. PGS has a definitive indication in assisted reproductive technology programs and can be utilized to improve pregnancy rates significantly.

  4. A Forward Genetic Screen for Molecules Involved in Pheromone-Induced Dauer Formation in Caenorhabditis elegans

    Science.gov (United States)

    Neal, Scott J.; Park, JiSoo; DiTirro, Danielle; Yoon, Jason; Shibuya, Mayumi; Choi, Woochan; Schroeder, Frank C.; Butcher, Rebecca A.; Kim, Kyuhyung; Sengupta, Piali

    2016-01-01

    Animals must constantly assess their surroundings and integrate sensory cues to make appropriate behavioral and developmental decisions. Pheromones produced by conspecific individuals provide critical information regarding environmental conditions. Ascaroside pheromone concentration and composition are instructive in the decision of Caenorhabditis elegans to either develop into a reproductive adult or enter into the stress-resistant alternate dauer developmental stage. Pheromones are sensed by a small set of sensory neurons, and integrated with additional environmental cues, to regulate neuroendocrine signaling and dauer formation. To identify molecules required for pheromone-induced dauer formation, we performed an unbiased forward genetic screen and identified phd (pheromone response-defective dauer) mutants. Here, we describe new roles in dauer formation for previously identified neuronal molecules such as the WD40 domain protein QUI-1 and MACO-1 Macoilin, report new roles for nociceptive neurons in modulating pheromone-induced dauer formation, and identify tau tubulin kinases as new genes involved in dauer formation. Thus, phd mutants define loci required for the detection, transmission, or integration of pheromone signals in the regulation of dauer formation. PMID:26976437

  5. A Sleeping Beauty forward genetic screen identifies new genes and pathways driving osteosarcoma development and metastasis

    Science.gov (United States)

    Moriarity, Branden S; Otto, George M; Rahrmann, Eric P; Rathe, Susan K; Wolf, Natalie K; Weg, Madison T; Manlove, Luke A; LaRue, Rebecca S; Temiz, Nuri A; Molyneux, Sam D; Choi, Kwangmin; Holly, Kevin J; Sarver, Aaron L; Scott, Milcah C; Forster, Colleen L; Modiano, Jaime F; Khanna, Chand; Hewitt, Stephen M; Khokha, Rama; Yang, Yi; Gorlick, Richard; Dyer, Michael A; Largaespada, David A

    2016-01-01

    Osteosarcomas are sarcomas of the bone, derived from osteoblasts or their precursors, with a high propensity to metastasize. Osteosarcoma is associated with massive genomic instability, making it problematic to identify driver genes using human tumors or prototypical mouse models, many of which involve loss of Trp53 function. To identify the genes driving osteosarcoma development and metastasis, we performed a Sleeping Beauty (SB) transposon-based forward genetic screen in mice with and without somatic loss of Trp53. Common insertion site (CIS) analysis of 119 primary tumors and 134 metastatic nodules identified 232 sites associated with osteosarcoma development and 43 sites associated with metastasis, respectively. Analysis of CIS-associated genes identified numerous known and new osteosarcoma-associated genes enriched in the ErbB, PI3K-AKT-mTOR and MAPK signaling pathways. Lastly, we identified several oncogenes involved in axon guidance, including Sema4d and Sema6d, which we functionally validated as oncogenes in human osteosarcoma. PMID:25961939

  6. Genome-wide screening for genetic loci associated with noise-induced hearing loss.

    Science.gov (United States)

    White, Cory H; Ohmen, Jeffrey D; Sheth, Sonal; Zebboudj, Amina F; McHugh, Richard K; Hoffman, Larry F; Lusis, Aldons J; Davis, Richard C; Friedman, Rick A

    2009-04-01

    Noise-induced hearing loss (NIHL) is one of the more common sources of environmentally induced hearing loss in adults. In a mouse model, Castaneous (CAST/Ei) is an inbred strain that is resistant to NIHL, while the C57BL/6J strain is susceptible. We have used the genome-tagged mice (GTM) library of congenic strains, carrying defined segments of the CAST/Ei genome introgressed onto the C57BL/6J background, to search for loci modifying the noise-induced damage seen in the C57BL/6J strain. NIHL was induced by exposing 6-8-week old mice to 108 dB SPL intensity noise. We tested the hearing of each mouse strain up to 23 days after noise exposure using auditory brainstem response (ABR). This study identifies a number of genetic loci that modify the initial response to damaging noise, as well as long-term recovery. The data suggest that multiple alleles within the CAST/Ei genome modify the pathogenesis of NIHL and that screening congenic libraries for loci that underlie traits of interest can be easily carried out in a high-throughput fashion.

  7. Screening genetically modified organisms using multiplex-PCR coupled with oligonucleotide microarray.

    Science.gov (United States)

    Xu, Jia; Miao, Haizhen; Wu, Houfei; Huang, Wensheng; Tang, Rong; Qiu, Minyan; Wen, Jianguo; Zhu, Shuifang; Li, Yao

    2006-07-15

    In this research, we developed a multiplex polymerase chain reaction (multiplex-PCR) coupled with a DNA microarray system simultaneously aiming at many targets in a consecutive reaction to detect a genetically modified organism (GMO). There are a total of 20 probes for detecting a GMO in a DNA microarray which can be classified into three categories according to their purpose: the first for screening GMO from un-transgenic plants based on the common elements such as promoter, reporter and terminator genes; the second for specific gene confirmation based on the target gene sequences such as herbicide-resistance or insect-resistance genes; the third for species-specific genes which the sequences are unique for different plant species. To ensure the reliability of this method, different kinds of positive and negative controls were used in DNA microarray. Commercial GM soybean, maize, rapeseed and cotton were identified by means of this method and further confirmed by PCR analysis and sequencing. The results indicate that this method discriminates between the GMOs very quickly and in a cost-saving and more time efficient way. It can detect more than 95% of currently commercial GMO plants and the limits of detection are 0.5% for soybean and 1% for maize. This method is proved to be a new method for routine analysis of GMOs.

  8. Data on screening and identification of genetically modified papaya in food supplements.

    Science.gov (United States)

    Prins, Theo W; Scholtens, Ingrid M J; Bak, Arno W; van Dijk, Jeroen P; Voorhuijzen, Marleen M; Laurensse, Emile J; Kok, Esther J

    2016-12-01

    This article contains data related to the research article entitled "A case study to determine the geographical origin of unknown GM papaya in routine food sample analysis, followed by identification of papaya events 16-0-1 and 18-2-4" (Prins et al., 2016) [1]. Quantitative real-time PCR (qPCR) with targets that are putatively present in genetically modified (GM) papaya was used as a first screening to narrow down the vast array of candidates. The combination of elements P-nos and nptII was further confirmed by amplification and subsequent sequencing of the P-nos/nptII construct. Next, presence of the candidate GM papayas 16-0-1 and 18-2-4 were investigated by amplification and sequencing of event-spanning regions on the left and right border. This data article reports the Cq values for GM elements, the nucleotide sequence of the P-nos/nptII construct and the presence of GM papaya events 18-2-4 and/or 16-0-1 in five samples that were randomly sampled to be analysed in the framework of the official Dutch GMO monitoring program for food.

  9. Dehydroepiandrosterone (DHEA) reduces embryo aneuploidy: direct evidence from preimplantation genetic screening (PGS).

    Science.gov (United States)

    Gleicher, Norbert; Weghofer, Andrea; Barad, David H

    2010-11-10

    Dehydroepiandrosterone (DHEA) has been reported to improve pregnancy chances in women with diminished ovarian reserve (DOR), and to reduce miscarriage rates by 50-80%. Such an effect is mathematically inconceivable without beneficial effects on embryo ploidy. This study, therefore, assesses effects of DHEA on embryo aneuploidy. In a 1:2, matched case control study 22 consecutive women with DOR, supplemented with DHEA, underwent preimplantation genetic screening (PGS) of embryos during in vitro fertilization (IVF) cycles. Each was matched by patient age and time period of IVF with two control IVF cycles without DHEA supplementation (n = 44). PGS was performed for chromosomes X, Y, 13, 16, 18, 21 and 22, and involved determination of numbers and percentages of aneuploid embryos. DHEA supplementation to a significant degree reduced number (P = 0.029) and percentages (P DHEA effects on DOR patients, at least partially, are the likely consequence of lower embryo aneuploidy. DHEA supplementation also deserves investigation in older fertile women, attempting to conceive, where a similar effect, potentially, could positively affect public health.

  10. Preimplantation genetic screening (PGS) still in search of a clinical application: a systematic review

    Science.gov (United States)

    2014-01-01

    Only a few years ago the American Society of Assisted Reproductive Medicine (ASRM), the European Society for Human Reproduction and Embryology (ESHRE) and the British Fertility Society declared preimplantation genetic screening (PGS#1) ineffective in improving in vitro fertilization (IVF) pregnancy rates and in reducing miscarriage rates. A presumably upgraded form of the procedure (PGS#2) has recently been reintroduced, and is here assessed in a systematic review. PGS#2 in comparison to PGS#1 is characterized by: (i) trophectoderm biopsy on day 5/6 embryos in place of day-3 embryo biopsy; and (ii) fluorescence in-situ hybridization (FISH) of limited chromosome numbers is replaced by techniques, allowing aneuploidy assessments of all 24 chromosome pairs. Reviewing the literature, we were unable to identify properly conducted prospective clinical trials in which IVF outcomes were assessed based on “intent to treat”. Whether PGS#2 improves IVF outcomes can, therefore, not be determined. Reassessments of data, alleged to support the efficacy of PGS#2, indeed, suggest the opposite. Like with PGS#1, the introduction of PGS#2 into unrestricted IVF practice again appears premature, and threatens to repeat the PGS#1 experience, when thousands of women experienced reductions in IVF pregnancy chances, while expecting improvements. PGS#2 is an unproven and still experimental procedure, which, until evidence suggests otherwise, should only be offered under study conditions, and with appropriate informed consents. PMID:24628895

  11. A Forward Genetic Screen for Molecules Involved in Pheromone-Induced Dauer Formation in Caenorhabditis elegans

    Directory of Open Access Journals (Sweden)

    Scott J. Neal

    2016-05-01

    Full Text Available Animals must constantly assess their surroundings and integrate sensory cues to make appropriate behavioral and developmental decisions. Pheromones produced by conspecific individuals provide critical information regarding environmental conditions. Ascaroside pheromone concentration and composition are instructive in the decision of Caenorhabditis elegans to either develop into a reproductive adult or enter into the stress-resistant alternate dauer developmental stage. Pheromones are sensed by a small set of sensory neurons, and integrated with additional environmental cues, to regulate neuroendocrine signaling and dauer formation. To identify molecules required for pheromone-induced dauer formation, we performed an unbiased forward genetic screen and identified phd (pheromone response-defective dauer mutants. Here, we describe new roles in dauer formation for previously identified neuronal molecules such as the WD40 domain protein QUI-1 and MACO-1 Macoilin, report new roles for nociceptive neurons in modulating pheromone-induced dauer formation, and identify tau tubulin kinases as new genes involved in dauer formation. Thus, phd mutants define loci required for the detection, transmission, or integration of pheromone signals in the regulation of dauer formation.

  12. A Forward Genetic Screen for Molecules Involved in Pheromone-Induced Dauer Formation in Caenorhabditis elegans.

    Science.gov (United States)

    Neal, Scott J; Park, JiSoo; DiTirro, Danielle; Yoon, Jason; Shibuya, Mayumi; Choi, Woochan; Schroeder, Frank C; Butcher, Rebecca A; Kim, Kyuhyung; Sengupta, Piali

    2016-05-03

    Animals must constantly assess their surroundings and integrate sensory cues to make appropriate behavioral and developmental decisions. Pheromones produced by conspecific individuals provide critical information regarding environmental conditions. Ascaroside pheromone concentration and composition are instructive in the decision of Caenorhabditis elegans to either develop into a reproductive adult or enter into the stress-resistant alternate dauer developmental stage. Pheromones are sensed by a small set of sensory neurons, and integrated with additional environmental cues, to regulate neuroendocrine signaling and dauer formation. To identify molecules required for pheromone-induced dauer formation, we performed an unbiased forward genetic screen and identified phd (pheromone response-defective dauer) mutants. Here, we describe new roles in dauer formation for previously identified neuronal molecules such as the WD40 domain protein QUI-1 and MACO-1 Macoilin, report new roles for nociceptive neurons in modulating pheromone-induced dauer formation, and identify tau tubulin kinases as new genes involved in dauer formation. Thus, phd mutants define loci required for the detection, transmission, or integration of pheromone signals in the regulation of dauer formation.

  13. 1560例孕中期妇女血清学产前筛查结果分析%Analysis on the maternal serum prenatal screening results of 1560 pregnant women during the second trimester of pregnancy

    Institute of Scientific and Technical Information of China (English)

    涂志华; 黄慈丹; 杨春; 朱晓妹; 周小婉; 王洁

    2013-01-01

    目的 探讨孕中期妇女血清学产前筛查唐氏综合征、18-三体综合征、开放性神经管畸形筛查结果的特点,为临床服务提供参考数据.方法 采用时间分辨免疫荧光法检测孕中期妇女血清uE3、游离-hCG、AFP含量,结合孕妇年龄、体重等信息,通过Lifecycle3.2软件评估胎儿唐氏综合征、18-三体综合征、开放性神经管畸形高危与否.孕妇产后两个月内回访妊娠结局.结果 唐氏综合征高风险阳性率为5.32%,1例高风险阳性确诊唐氏综合征;18-三体综合征高风险阳性率为0.90%;开放性神经管畸形高风险阳性率为0.64%.唐氏综合征高风险阳性率海南省妇幼保健院与合作医院比较,差异有统计学意义(x2=4.72,P< 0.05),35岁及以上组孕妇高于35岁以下组,两者差异有显著统计学意义(x2=70.63,P<0.01),35岁以下组高风险阳性率也达3.71%.结论 多单位协作进行产前筛查时,应重视标本采集、运送等规范操作;每个年龄段的孕妇均应重视产前筛查.%Objective To investigate the characteristics of prenatal screening results for Down's syn drome (DS), Edward's syndrome (ES) and open neural tube defects (ONTD), and to provide reference for clin ical service. Methods Time-resolved fluoroimmunoassay was used to detect the count of uE3, free-β-hCG, AFP in serum of pregnant women during the second trimester. The software Lifecycle3.2 was used to calculate the risk values of DS, ES, ONTD by importing the data of uE3, free-β-hCG, AFP, age, body weight, et al. The pregrant women were followed up 2 months after postpartum for pregnancy outcome. Results The positive rate of the high risk DS was 5.32%. One case of the high risk DS was diagnosed definitely. The positive rate of high risk ES was 0.90%, and the positive rate of high risk ONTD was 0.64%. The positive rates of high risk DS of Hainan Provincial Maternity and Child Health Hospital and cooperation hospitals were

  14. Analysis of prenatal screening results in 10 877 cases of pregnancy in Yanbian area%延边地区10877例孕中期产前筛查结果分析

    Institute of Scientific and Technical Information of China (English)

    太莲淑

    2016-01-01

    目的:探讨延边地区2012年10月~2014年9月期间的孕中期产前筛查在临床中的应用。方法:采用时间分辨荧光免疫分析法测定孕中期母血清中甲胎蛋白(AFP)、游离β人绒毛膜促性腺激素(free β-HCG)以及游离雌三醇(uE3)浓度,结合孕妇年龄、孕周及体重等因素,经配套的风险评估软件RISK-2T进行风险评估。结果:10877例孕妇共筛查出高风险449例,其中21-三体375例,18-三体23例,NTD 51例,高风险孕妇经医生产前咨询进行进一步产前诊断人数有251例,经上一级医院染色体核型分析的产前诊断确诊为真阳性数为15例,其中21-三体8例、18-三体4例,NTD高风险经B超诊断确诊3例。结论:孕中期产前筛查作为一种无创性检测手段,可以大大降低出生缺陷的发生。%Objective To study the application of prenatal screening in the mid-pregnancy which between October 2012 to September 2014 in Yanbian.Method Using the Time resolved fluoresecence immunoassay (TRFIA)determined the concentration of AFP、free β-HCG、uE3 in the mid-pregnancy.Combine the pregnant age、weight and other facts,assess the risks with RISK-2T software.Results 449 cases of high risks from 10 877 pregnancies which include 375 cases of Trisomy-21,23 cases of Tri-somy-18,51 cases of NTD,were screened out 251 cases of further prenatal diagnosis,15 cases of confirmed positive test result in Karyotype analysis.There were 8 cases of Trisomy-21、4 cases of Trisomy-18、3 cases of NTD among the positive cases in Kary-otype.Conclusion Prenatal screening in the mid-pregnancy is harmless and plays an objective role in reducing birth defects.

  15. 四川地区2007~2009年孕妇产前筛查情况分析%ANALYSIS OF PRENATAL SCREENING SITUATION IN SICHUAN AREA FROM 2007 TO 2009

    Institute of Scientific and Technical Information of China (English)

    龚云辉; 邱东生; 王和; 周容; 张迅; 李天伦; 袁粒星; 何斌; 韩代文; 唐君; 邹粉娥

    2012-01-01

    [目的]了解四川地区产前筛查的现状.[方法]在孕中期(孕15-20周)采血检测孕妇血清中甲胎蛋白(AFP)、人游离β-绒毛膜促性腺激素(f-βhCG)和游离雌三醇(μE3)(我觉得我们医院也一起用了游离雌三醇,我明天上门诊时看一下报告单)值,检测结果结合孕妇年龄、孕周、体重、是否双胎、有无糖尿病及吸烟史等因素,利用风险评估软件计算21-三体、18-三体综合征和开放性神经管缺陷的风险概率.[结果]3年间四川地区孕妇总产前筛查率为5.08%,高危孕妇和低危孕妇的总筛查阳性率分别为23.68%和8.59%.21-三体、18-三体、开放性神经营缺陷在高危孕妇中的筛查阳性率分别为21.46%、0.96%、1.26%,在低危孕妇中分别为7.34%、0.13%、1.11%.[结论]产前筛查作为先天畸形的二级干预措施,在降低先天畸形发生方面有重要作用,但目前四川地区的产前筛查率仍较低,需进一步普及.%[Objective] To analyses the prenatal screening situation in Sichuan area. [Methods] The concentrations of AFP, free phCG and μE3 in the serum of mid-trimester (15-20 weeks pregnancy) pregnant women were tested. The risk of Down syndrome, Trisomy 18 and Nervous tube defect were evaluated by using the risk evaluation software. [Results] In the three years, the total rate of prenatal screening was 5.08%. Among the high risk and low risk pregnant women, the total positive rale was 23.68% and 8.59%, respectively. In the high risk group, the positive rate of Down syndrome, Trisomy 18 and Nervous lube defect were 21.46%, 0.96% and 1.26%, respectively; In the low risk group, they were 7.34%, 0.13% and 1.11%, re-spectively. [Conclusion] As the second level intervention measure of birth defect, prenatal screening played an important role in decreasing Jurth defect rate, but it should be further popularized.

  16. [Toxoplasmosis in pregnancy: prevention, prenatal diagnosis and treatment].

    Science.gov (United States)

    Hohlfeld, P; Biedermann, K; Extermann, P; Gyr, T

    1995-01-01

    Maternal infection with Toxoplasma gondii acquired during pregnancy occurs in more than 500 women per year in Switzerland. Systematic screening at the beginning of pregnancy allows the introduction of health education programs. The screening during pregnancy is performed to diagnose primary maternal infections and to propose prenatal diagnosis and treatment. The administration of specific antibiotherapy during pregnancy (spiramycine or the association of pyrimethamine and sulfonamides) significantly reduces the risk of fetal infection. Prenatal diagnosis of congenital toxoplasmosis is possible and reliable. It avoids unnecessary termination of pregnancy when the fetus is not infected and specific therapy in case of infection (association of pyrimethamine and sulfonamides). Prenatal treatment may be proposed without prenatal diagnosis as of the 16th week of gestation. In any case, prenatal treatment seems to reduce the incidence of severe congenital toxoplasmosis.

  17. Clinical and genetic aspects of bicuspid aortic valve: a proposed model for family screening based on a review of literature

    Directory of Open Access Journals (Sweden)

    Hubert Baars

    2015-04-01

    Full Text Available Bicuspid aortic valve (BAV is the most common congenital cardiac defect causing serious morbidity including valvular dysfunction and thoracic aortic aneurysms (TAA in around 30% of BAV patients. Cardiological screening of first-degree relatives is advised in recent guidelines given the observed familial clustering of BAV. However, guidelines regarding screening of family members and DNA testing are not unequivocal. The aim of this review is to provide an overview of the literature on echocardiographic screening in first-degree relatives of BAV patients and to propose a model for family screening. In addition, we provide a flowchart for DNA testing. We performed a PubMed search and included studies providing data on echocardiographic screening in asymptomatic relatives of BAV patients. Nine studies were included. In 5.8-47.4% of the families BAV was shown to be familial. Of the screened first-degree relatives 1.8-11% was found to be affected with BAV. Results regarding a potential risk of TAA in first-degree relatives with a tricuspid aortic valve (TAV were conflicting. The reported familial clustering of BAV underlines the importance of cardiological screening in relatives. After reviewing the available family history, patient characteristics and the results of cardiological screening in relatives, follow-up in relatives with a TAV and/or DNA testing may be advised in a subset of families. In this study we propose a model for the clinical and genetic work-up in BAV families, based on the most extensive literature review on family screening performed until now.

  18. Is there evidence that we should screen the general population for Lynch syndrome with genetic testing? A systematic review

    Science.gov (United States)

    Prince, Anya E R; Cadigan, R Jean; Henderson, Gail E; Evans, James P; Adams, Michael; Coker-Schwimmer, Emmanuel; Penn, Dolly C; Van Riper, Marcia; Corbie-Smith, Giselle; Jonas, Daniel E

    2017-01-01

    Background The emerging dual imperatives of personalized medicine and technologic advances make population screening for preventable conditions resulting from genetic alterations a realistic possibility. Lynch syndrome is a potential screening target due to its prevalence, penetrance, and the availability of well-established, preventive interventions. However, while population screening may lower incidence of preventable conditions, implementation without evidence may lead to unintentional harms. We examined the literature to determine whether evidence exists that screening for Lynch-associated mismatch repair (MMR) gene mutations leads to improved overall survival, cancer-specific survival, or quality of life. Documenting evidence and gaps is critical to implementing genomic approaches in public health and guiding future research. Materials and methods Our 2014–2015 systematic review identified studies comparing screening with no screening in the general population, and controlled studies assessing analytic validity of targeted next-generation sequencing, and benefits or harms of interventions or screening. We conducted meta-analyses for the association between early or more frequent colonoscopies and health outcomes. Results Twelve studies met our eligibility criteria. No adequate evidence directly addressed the main question or the harms of screening in the general population. Meta-analyses found relative reductions of 68% for colorectal cancer incidence (relative risk: 0.32, 95% confidence interval: 0.23–0.43, three cohort studies, 590 participants) and 78% for all-cause mortality (relative risk: 0.22, 95% confidence interval: 0.09–0.56, three cohort studies, 590 participants) for early or more frequent colonoscopies among family members of people with cancer who also had an associated MMR gene mutation. Conclusion Inadequate evidence exists examining harms and benefits of population-based screening for Lynch syndrome. Lack of evidence highlights the need

  19. A follow-up analysis of prenatal screening in 3651 cases on middle period pregnancy%3651例孕中期产前筛查孕妇随访结果分析

    Institute of Scientific and Technical Information of China (English)

    姚爱玲; 陈艳玲; 马爱军

    2011-01-01

    Objective: To explore the clinical application and value in prenatal screening of Down's syndrome and open nervous tube defect on middle period pregnancy.Methods: Serum samples were collected from 3651 pregnant women on middle period pregnancy (15 -20 +6 week) and free-β-human chorionic gonadot ropin (free-β-hCG) and alphafetoprotein (AFP) level were determined by time-resolved fluoroimmunoassay (TR-FIA, or DELFIA) method.Risk2T was used to calculate the risk rate of Down's syndrome (DS), 13/18 trisomy syndrome and open nervous tube defect (ONTD).Results: The calculated results show that 241, 20 and 30 cases were with high risk of DS, 13/18 trisomy syndrome and ONTD in 3651 test samples, respetively.After - birth visit on the highrisk pregnant women indicated that 5 births suffered DS, no birth suffered 13/18 trisomy syndrome and 2 births suffered ONTD.Among 3390 low-risk cases of DS, there was also one birth suffered DS.Conclusion: The results in this paper indicate that prenatal screening of middle period serum of pregnant women can reduce the risk of birth defects incidence.%目的 孕中期产前筛查在临床中的应用和意义.方法 应用时间分辨法,以血清AFP、free-β-HCG作为指标,对3651例孕15周~20周+6孕妇进行血清学产前筛查,Risk2T软件计算风险值.结果 检出唐氏综合征高危孕妇241例,随访发现5例唐氏综合症患儿,低危孕妇3390例,随访发现1例唐氏综合症患儿;检出13/18三体高危孕妇20例,随访未发现患儿;检出开放性神经管缺陷高危孕妇30例,随访发现2例无脑儿.结论 孕中期产前筛查可降低出生缺陷的发生.

  20. Application of Color Doppler Ultrasonography in the Prenatal Screening of Non-High Risk Fetus%彩色多普勒超声在非高危胎儿产前心脏筛查中的应用

    Institute of Scientific and Technical Information of China (English)

    王婷

    2016-01-01

    目的:探究彩色多普勒超声在非高危胎儿产前心脏筛查中的应用价值,通过胎儿产前心脏筛查以降低先天性心脏病患儿的出生率及死亡率。方法选取我院2013年12月~2015年12月收治的2352例处于孕20~24周的非高危胎儿作为实验组,同时选取同期341例高危胎儿作为对照组。这2693例均实施彩色多普勒超声检查,并对所有胎儿进行随访并随访至明确诊断,比较两组胎儿心脏畸形发生率以及非高危胎儿的畸形敏感性、特异性。结果实验组非高危胎儿心脏畸形的发生率低于对照组高危胎儿,差异有统计学意义(P<0.05)。非高危胎儿产前经彩色多普勒超声检查,其心脏畸形筛查的准确率为92.44%。四腔心和左、右室流出道切面筛查胎儿心脏崎形的特异性、敏感性分别为91.32%、99.9%。结论彩色多普勒超声在非高危胎儿产前心脏筛查中的应用价值较高,其诊断的特异度以及敏感度均较高。%Objective To explore the application value of color Doppler ultrasonography in the prenatal screening of non high risk fetus, birth rate and death rate in children with congenital heart disease by screening of fetal heart.Methods In our hospital from December 2013 to December 2015, 2 352 cases of non high risk fetus in 20 to 24 weeks of pregnancy were selected as experimental group, at the same time, 341 high-risk fetuses were selected as control group at the same time. All the 2 693 cases were examined by color Doppler ultrasound, and all the fetuses were followed up for deifnite diagnosis, the incidence rate of fetal heart rate and the abnormal sensitivity and specificity of the non - high risk fetus were compared between the two groups.ResultsIn the experimental group, the incidence rate of non high risk fetal heart malformation was lower than that of the control group, the difference was statistically signiifcant (P<0.05). The rate of screening for non

  1. 超声在21-三体综合征产前筛查中的应用分析%Aanalysis of prenatal ultrasonography in screening for fetal trisomy 21

    Institute of Scientific and Technical Information of China (English)

    韩璐; 荆春丽; 王彦; 冯丽云; 顾颜

    2016-01-01

    目的 探讨超声在21-三体综合征产前筛查中的应用价值.方法 2009年1月至2014年6月在大连市妇幼保健院被确诊为21-三体综合征的胎儿共77例,其中55例行超声筛查,分析其超声表现与21-三体综合征的关系.结果 55例接受产前超声筛查的21-三体综合征病例中,10例进行了孕早期超声筛查,8例(80%)发现异常;45例进行了孕中晚期超声筛查,37例(82.2%)发现超声异常.孕早期常见的异常为NT增厚(80%)、鼻骨缺失(40%)和静脉导管α波倒置(30%).孕中晚期常见的软指标异常为鼻骨缺失或发育不良(40.0%)、颈后皮肤皱褶增厚(26.7%)、肱骨或股骨短(17.8%)等;胎儿结构畸形主要为心血管畸形(33.3%)和十二指肠闭锁(13.3%)等.此外,21-三体综合征胎儿中晚期超声还可表现为羊水多(17.8%)和脐动脉血流异常(8.9%).结论 超声在21-三体综合征产前筛查中具有重要作用.%Objective:To investigate the clinical value of ultrasound in screening for fetal trisomy 21.Methods:From Jan.2009 to Jun.2014,77 fetuses was diagnosed as trisomy 21 in the Dalian Matemal and Child Health Hospital.In all cases,55 cases underwent prenatal ultrasound screening.The relationship between trisomy 21 and ultrasonic manifestations was analyzed.Results:In the 55 cases,10 cases were screened in early pregnancy.Sonographic anomalies were detected in 8 feruses (80%),including thickened nuehal translucency (80%),nasal bone hypoplasia (40%),reverse of a-wave of ductus venosus (30%) and so on.45 cases were screened in middle and late pregnancy.Sonographic anomalies were detected in 37 feruses (82.2%).The most common ultrasound markers were nasal bone hypoplasia (40%),thickened nuchal fold (26.7%) and short femurs and humerus (17.8%),the common structural malformations include cardiac defects (33.3%) and digestive system (13.3%).Furthermore,much amniotic fluid (17.8%) and abnormal umbilical artery

  2. Confirmation of prenatal diagnosis of sex chromosome mosaicism.

    Science.gov (United States)

    McFadden, D E; Kalousek, D K

    1989-04-01

    Prenatal diagnosis of mosaicism causes problems in interpretation and in genetic counselling. Part of the difficulty with any prenatal diagnosis of mosaicism is interpretation of results without knowing the exact origin, embryonic or extraembryonic, of the abnormal cell line. To confuse the issue in cases of prenatal diagnosis of 45,X/46,XY mosaicism is the recent demonstration that a diagnosis of 45,X/46,XY made prenatally is not necessarily associated with the same phenotype as when diagnosed postnatally. We present two cases of prenatal diagnosis of sex chromosome mosaicism (45,X/46,XY and 45,X/47,XYY). Posttermination examination of the phenotypically normal male fetuses and their placentas established that the placenta was the most likely source of the 45,X cell line. An approach to confirming the prenatal diagnosis of sex chromosome mosaicism and establishing its origin utilizing detailed cytogenetic examination of both fetus and placenta is suggested.

  3. A genetic screen for replication initiation defective (rid mutants in Schizosaccharomyces pombe

    Directory of Open Access Journals (Sweden)

    Locovei Alexandra M

    2010-08-01

    Full Text Available Abstract In fission yeast the intra-S phase and DNA damage checkpoints are activated in response to inhibition of DNA replication or DNA damage, respectively. The intra-S phase checkpoint responds to stalled replication forks leading to the activation of the Cds1 kinase that both delays cell cycle progression and stabilizes DNA replication forks. The DNA damage checkpoint, that operates during the G2 phase of the cell cycle delays mitotic progression through activation of the checkpoint kinase, Chk1. Delay of the cell cycle is believed to be essential to allow time for either replication restart (in S phase or DNA damage repair (in G2. Previously, our laboratory showed that fission yeast cells deleted for the N-terminal half of DNA polymerase ε (Cdc20 are delayed in S phase, but surprisingly require Chk1 rather than Cds1 to maintain cell viability. Several additional DNA replication mutants were then tested for their dependency on Chk1 or Cds1 when grown under semi-permissive temperatures. We discovered that mutants defective in DNA replication initiation are sensitive only to loss of Chk1, whilst mutations that inhibit DNA replication elongation are sensitive to loss of both Cds1 and Chk1. To confirm that the Chk1-sensitive, Cds1-insensitive phenotype (rid phenotype is specific to mutants defective in DNA replication initiation, we completed a genetic screen for cell cycle mutants that require Chk1, but not Cds1 to maintain cell viability when grown at semi-permissive temperatures. Our screen identified two mutants, rid1-1 and rid2-1, that are defective in Orc1 and Mcm4, respectively. Both mutants show defects in DNA replication initiation consistent with our hypothesis that the rid phenotype is replication initiation specific. In the case of Mcm4, the mutation has been mapped to a highly conserved region of the protein that appears to be required for DNA replication initiation, but not elongation. Therefore, we conclude that the cellular

  4. 某市孕中期产前筛查诊断结果分析%Analysis on the prenatal screening and diagnosis in the second trimester of pregnancy

    Institute of Scientific and Technical Information of China (English)

    张传英; 赵咏梅; 孟君

    2014-01-01

    Objective To investigate the clinical application value of prenatal screening and diagnosis in the second trimester of pregnancy .Methods Pregnant women whose ages were less than 35 years old ,were detected with serum alpha-fetoprotein(AFP) ,human chorionic fluid(free-β-HCG) and free three female alcohol(Ue3) by using luminescence analysis system in the mid-gestation .According to detection result ,we made use of software system to compute risk value of Down′s syndrome ,Edward syndrome and neural tube defect .Once the high-risk pregnant women were found out ,we preceded prenatal diagnosis on them by means of amniotic fluid puncture .And for the pregnant women with the age over 35 or having indication were directly carried on amniotic fluid puncture prenatal diagnosis after Informed Consent .Results There were 145 cases to be at high risk among pregnant women with ages under 35 ,and the screening positive rate was 6 .8% .Among 124 cases which took amniotic fluid chromosome exami-nation ,1 cases of Down′s syndrome ,1 cases of Edwards′s syndrome and 3 cases of the other chromosome abnormality were found out respectively .In addition ,there were 8 cases of chromosome abnormality were diagnosis among the pregnant women with the age over 35 or having indication of amniotic fluid puncture .Conclusion The mid-gestation prenatal test abnormal rate is higher among pregnant women with age less than 35 years old in Suining ,and it is very important to perform mid-gestation prenatal screening in order to prevent and reduce born defects .%目的:通过对孕中期孕妇进行产前筛查及产前诊断,探讨其临床应用价值。方法对于35岁以下的孕妇,采用化学发光分析系统,测定孕中期(15~20+6周)血清中甲胎蛋白(A FP )、游离β人绒毛膜促性腺激素(Freeβ-HCG)及游离雌三醇(uE3)的浓度。采用配套风险评估软件计算出唐氏综合征(21-三体)、爱德华综合征(18-三体综合征

  5. 广东省东莞地区地中海贫血产前筛查及产前诊断体系的建立%Establishment of the system of prenatal screening and prenatal diagnosis of thalassemia in Dongguan city

    Institute of Scientific and Technical Information of China (English)

    姚倩瑜; 李铭臻; 邱建国; 莫清萍; 钟鸣

    2013-01-01

    avoided by screening the incidence and types of genicmutations.Thus setting up the system of prenatal screening-prenatal diagnosis-selective abortion is effective to avoid the birth of neonates.And it is vital to improve the quality of human being.

  6. piggyBac transposon somatic mutagenesis with an activated reporter and tracker (PB-SMART for genetic screens in mice.

    Directory of Open Access Journals (Sweden)

    Sean F Landrette

    Full Text Available Somatic forward genetic screens have the power to interrogate thousands of genes in a single animal. Retroviral and transposon mutagenesis systems in mice have been designed and deployed in somatic tissues for surveying hematopoietic and solid tumor formation. In the context of cancer, the ability to visually mark mutant cells would present tremendous advantages for identifying tumor formation, monitoring tumor growth over time, and tracking tumor infiltrations and metastases into wild-type tissues. Furthermore, locating mutant clones is a prerequisite for screening and analyzing most other somatic phenotypes. For this purpose, we developed a system using the piggyBac (PB transposon for somatic mutagenesis with an activated reporter and tracker, called PB-SMART. The PB-SMART mouse genetic screening system can simultaneously induce somatic mutations and mark mutated cells using bioluminescence or fluorescence. The marking of mutant cells enable analyses that are not possible with current somatic mutagenesis systems, such as tracking cell proliferation and tumor growth, detecting tumor cell infiltrations, and reporting tissue mutagenesis levels by a simple ex vivo visual readout. We demonstrate that PB-SMART is highly mutagenic, capable of tumor induction with low copy transposons, which facilitates the mapping and identification of causative insertions. We further integrated a conditional transposase with the PB-SMART system, permitting tissue-specific mutagenesis with a single cross to any available Cre line. Targeting the germline, the system could also be used to conduct F1 screens. With these features, PB-SMART provides an integrated platform for individual investigators to harness the power of somatic mutagenesis and phenotypic screens to decipher the genetic basis of mammalian biology and disease.

  7. A Sleeping Beauty DNA transposon-based genetic sensor for functional screening of vitamin D3 analogues

    DEFF Research Database (Denmark)

    Staunstrup, Nicklas Heine; Sharma, Nynne; Bak, Rasmus Otkjær;

    2011-01-01

    Analogues of vitamin D3 are extensively used in the treatment of various illnesses, such as osteoporosis, inflammatory skin diseases, and cancer. Functional testing of new vitamin D3 analogues and formulations for improved systemic and topical administration is supported by sensitive screening me...... analogues. The tri-cistronic genetic sensor encodes a drug-sensoring protein, a reporter protein expressed from an activated sensor-responsive promoter, and a resistance marker....

  8. Callosal agenesis followed postnatally after prenatal diagnosis.

    Science.gov (United States)

    Imataka, George; Nakagawa, Eiji; Kuwashima, Shigeko; Watanabe, Hiroshi; Yamanouchi, Hideo; Arisaka, Osamu

    2006-09-01

    Callosal agenesis is a congenital brain anomaly caused by embryonal hypogenesis of the corpus callosum. Concerning the neurological prognosis, epilepsy and motor disturbance are noted in some cases, while many cases are asymptomatic and the prognosis is good. We report a fetus tentatively diagnosed with hydrocephaly on prenatal echo-encephalography, which was performed without adequate explanation to and understanding of the parents. The parents had not expected an abnormality before the screening, and were subsequently not psychologically prepared for the discovery of the congenital brain anomaly on imaging. Moreover, they received no guidance on how to deal with any possible abnormalities. The pregnant mother was referred to our hospital. Prenatal MRI was performed after informed consent was obtained, and the fetus was diagnosed with callosal agenesis. The patient was followed for 5 years, and neurological development was normal. However, the parents have remained anxious while raising the child. Thus, the prenatal diagnosis of callosal agenesis in this case caused unnecessary mental burden to the parents. Here, we report the course of the case, and discuss the way prenatal ultrasonography should be used as a prenatal screening method, and the importance of counseling before the test.

  9. [Genetic screening of patients with familial hypercholesterolemia and insurability for life insurance policies and disability cover policies].

    Science.gov (United States)

    Homsma, S J; Lansberg, P J; Kastelein, J J

    2004-03-01

    In the Netherlands, people with familial hypercholesterolaemia (FH) have been actively screened since 1994 by means of DNA analysis. Recently, the Stichting Opsporing Erfelijke Hypercholesterolemie (Foundation for the Detection of Familial Hypercholesterolaemia) initiated a large scale-screening programme aimed at finding all 40,000 people. The Dutch ministry of Health, Welfare and Sport is providing the financial support. Genetic screening has social implications and raises questions on insurability. The Dutch Medical Examination Act prohibits insurers from posing questions about untreatable, serious inheritable conditions for insured sums under a certain value: for life-insurance policies policies insurers can request information for the purpose of an accurate risk classification. Insurance contracts can be accepted at normal rates if the target value of LDL-cholesterol < 4 mmol/l and additional risk factors such as smoking and an abnormal BMI are absent; the risk is determined by the phenotype and clinical factors and not by the genotype.

  10. Stem cell and genetic therapies for the fetus.

    Science.gov (United States)

    Pearson, Erik G; Flake, Alan W

    2013-02-01

    The prenatal diagnosis and management of congenital disease has made significant progress over the previous decade. Currently, fetal therapy (including open surgery and fetoscopic intervention) provides therapeutic options for a range of congenital anomalies; however, it is restricted to the treatment of fetal pathophysiology. Improvements in prenatal screening and the early diagnosis of genetic disease allow for preemptive treatment of anticipated postnatal disease by stem cell or genetic therapy. While currently awaiting clinical application, in utero stem cell therapy has made significant advances in overcoming the engraftment and immunologic barriers in both murine and pre-clinical large animal models. Likewise, proof in principle for fetal gene therapy has been demonstrated in rodent and large animal systems as a method to prevent the onset of inherited genetic disease; however, safety and ethical risks still need to be addressed prior to human application. In this review, we examine the current status and future direction of stem cell and genetic therapy for the fetus.

  11. A conditional piggyBac transposition system for genetic screening in mice identifies oncogenic networks in pancreatic cancer.

    Science.gov (United States)

    Rad, Roland; Rad, Lena; Wang, Wei; Strong, Alexander; Ponstingl, Hannes; Bronner, Iraad F; Mayho, Matthew; Steiger, Katja; Weber, Julia; Hieber, Maren; Veltkamp, Christian; Eser, Stefan; Geumann, Ulf; Öllinger, Rupert; Zukowska, Magdalena; Barenboim, Maxim; Maresch, Roman; Cadiñanos, Juan; Friedrich, Mathias; Varela, Ignacio; Constantino-Casas, Fernando; Sarver, Aaron; Ten Hoeve, Jelle; Prosser, Haydn; Seidler, Barbara; Bauer, Judith; Heikenwälder, Mathias; Metzakopian, Emmanouil; Krug, Anne; Ehmer, Ursula; Schneider, Günter; Knösel, Thomas; Rümmele, Petra; Aust, Daniela; Grützmann, Robert; Pilarsky, Christian; Ning, Zemin; Wessels, Lodewyk; Schmid, Roland M; Quail, Michael A; Vassiliou, George; Esposito, Irene; Liu, Pentao; Saur, Dieter; Bradley, Allan

    2015-01-01

    Here we describe a conditional piggyBac transposition system in mice and report the discovery of large sets of new cancer genes through a pancreatic insertional mutagenesis screen. We identify Foxp1 as an oncogenic transcription factor that drives pancreatic cancer invasion and spread in a mouse model and correlates with lymph node metastasis in human patients with pancreatic cancer. The propensity of piggyBac for open chromatin also enabled genome-wide screening for cancer-relevant noncoding DNA, which pinpointed a Cdkn2a cis-regulatory region. Histologically, we observed different tumor subentities and discovered associated genetic events, including Fign insertions in hepatoid pancreatic cancer. Our studies demonstrate the power of genetic screening to discover cancer drivers that are difficult to identify by other approaches to cancer genome analysis, such as downstream targets of commonly mutated human cancer genes. These piggyBac resources are universally applicable in any tissue context and provide unique experimental access to the genetic complexity of cancer.

  12. Electrochemical sensor for multiplex screening of genetically modified DNA: identification of biotech crops by logic-based biomolecular analysis.

    Science.gov (United States)

    Liao, Wei-Ching; Chuang, Min-Chieh; Ho, Ja-An Annie

    2013-12-15

    Genetically modified (GM) technique, one of the modern biomolecular engineering technologies, has been deemed as profitable strategy to fight against global starvation. Yet rapid and reliable analytical method is deficient to evaluate the quality and potential risk of such resulting GM products. We herein present a biomolecular analytical system constructed with distinct biochemical activities to expedite the computational detection of genetically modified organisms (GMOs). The computational mechanism provides an alternative to the complex procedures commonly involved in the screening of GMOs. Given that the bioanalytical system is capable of processing promoter, coding and species genes, affirmative interpretations succeed to identify specified GM event in terms of both electrochemical and optical fashions. The biomolecular computational assay exhibits detection capability of genetically modified DNA below sub-nanomolar level and is found interference-free by abundant coexistence of non-GM DNA. This bioanalytical system, furthermore, sophisticates in array fashion operating multiplex screening against variable GM events. Such a biomolecular computational assay and biosensor holds great promise for rapid, cost-effective, and high-fidelity screening of GMO. Copyright © 2013 Elsevier B.V. All rights reserved.

  13. Automated, quantitative cognitive/behavioral screening of mice: for genetics, pharmacology, animal cognition and undergraduate instruction.

    Science.gov (United States)

    Gallistel, C R; Balci, Fuat; Freestone, David; Kheifets, Aaron; King, Adam

    2014-02-26

    We describe a high-throughput, high-volume, fully automated, live-in 24/7 behavioral testing system for assessing the effects of genetic and pharmacological manipulations on basic mechanisms of cognition and learning in mice. A standard polypropylene mouse housing tub is connected through an acrylic tube to a standard commercial mouse test box. The test box has 3 hoppers, 2 of which are connected to pellet feeders. All are internally illuminable with an LED and monitored for head entries by infrared (IR) beams. Mice live in the environment, which eliminates handling during screening. They obtain their food during two or more daily feeding periods by performing in operant (instrumental) and Pavlovian (classical) protocols, for which we have written protocol-control software and quasi-real-time data analysis and graphing software. The data analysis and graphing routines are written in a MATLAB-based language created to simplify greatly the analysis of large time-stamped behavioral and physiological event records and to preserve a full data trail from raw data through all intermediate analyses to the published graphs and statistics within a single data structure. The data-analysis code harvests the data several times a day and subjects it to statistical and graphical analyses, which are automatically stored in the "cloud" and on in-lab computers. Thus, the progress of individual mice is visualized and quantified daily. The data-analysis code talks to the protocol-control code, permitting the automated advance from protocol to protocol of individual subjects. The behavioral protocols implemented are matching, autoshaping, timed hopper-switching, risk assessment in timed hopper-switching, impulsivity measurement, and the circadian anticipation of food availability. Open-source protocol-control and data-analysis code makes the addition of new protocols simple. Eight test environments fit in a 48 in x 24 in x 78 in cabinet; two such cabinets (16 environments) may be

  14. Establishment of a system based on universal multiplex-PCR for screening genetically modified crops.

    Science.gov (United States)

    Lu, I-Jen; Lin, Chih-Hui; Pan, Tzu-Ming

    2010-03-01

    The rapid development of many genetically modified (GM) crops in the past two decades makes it necessary to introduce an alternative strategy for routine screening and identification. In this study, we established a universal multiplex PCR detection system which will effectively reduce the number of reactions needed for sample identification. The PCR targets of this system include the six most frequently used transgenic elements: cauliflower mosaic virus (CaMV) 35S promoter, Agrobacterium tumefaciens nopaline synthase (nos) promoter, Agrobacterium tumefaciens nopaline synthase (nos) terminator, the neomycin phosphotransferase II (nptII) gene, the 5-enolpyruvylshikimate-3-phosphate synthase (CP4 epsps) gene of Agrobacterium tumefaciens strain CP4, and the phosphinothricin N-acetyltransferase (pat) gene. According to the AGBIOS database, the coverage of this detection system is 93% of commercial GM crops. This detection system could detect all certified reference materials (CRMs) at the 1.0% level. The correct combination of all the CRM amplicon patterns proved the specificity of this multiplex PCR system. Furthermore, the amplicon patterns of this multiplex PCR detection system could be used as an index of classification which will narrow the range of possible GM products. The simulation result of this multiplex PCR detection system on all commercialized 139 GM products in the AGBIOS database showed that the maximum number of PCR reactions needed to identify an unknown sample can be reduced to 13. In this study, we established a high-throughput multiplex PCR detection system with feasible sensitivity, specificity, and cost. By incorporating this detection system, the routine GM crop-detection process will meet the challenges resulting from a rapid increase in the number of GM crops in the future.

  15. Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse.

    Science.gov (United States)

    DiTommaso, Tia; Jones, Lynelle K; Cottle, Denny L; Gerdin, Anna-Karin; Vancollie, Valerie E; Watt, Fiona M; Ramirez-Solis, Ramiro; Bradley, Allan; Steel, Karen P; Sundberg, John P; White, Jacqueline K; Smyth, Ian M

    2014-10-01

    The skin is a highly regenerative organ which plays critical roles in protecting the body and sensing its environment. Consequently, morbidity and mortality associated with skin defects represent a significant health issue. To identify genes important in skin development and homeostasis, we have applied a high throughput, multi-parameter phenotype screen to the conditional targeted mutant mice generated by the Wellcome Trust Sanger Institute's Mouse Genetics Project (Sanger-MGP). A total of 562 different mouse lines were subjected to a variety of tests assessing cutaneous expression, macroscopic clinical disease, histological change, hair follicle cycling, and aberrant marker expression. Cutaneous lesions were associated with mutations in 23 different genes. Many of these were not previously associated with skin disease in the organ (Mysm1, Vangl1, Trpc4ap, Nom1, Sparc, Farp2, and Prkab1), while others were ascribed new cutaneous functions on the basis of the screening approach (Krt76, Lrig1, Myo5a, Nsun2, and Nf1). The integration of these skin specific screening protocols into the Sanger-MGP primary phenotyping pipelines marks the largest reported reverse genetic screen undertaken in any organ and defines approaches to maximise the productivity of future projects of this nature, while flagging genes for further characterisation.

  16. Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse.

    Directory of Open Access Journals (Sweden)

    Tia DiTommaso

    2014-10-01

    Full Text Available The skin is a highly regenerative organ which plays critical roles in protecting the body and sensing its environment. Consequently, morbidity and mortality associated with skin defects represent a significant health issue. To identify genes important in skin development and homeostasis, we have applied a high throughput, multi-parameter phenotype screen to the conditional targeted mutant mice generated by the Wellcome Trust Sanger Institute's Mouse Genetics Project (Sanger-MGP. A total of 562 different mouse lines were subjected to a variety of tests assessing cutaneous expression, macroscopic clinical disease, histological change, hair follicle cycling, and aberrant marker expression. Cutaneous lesions were associated with mutations in 23 different genes. Many of these were not previously associated with skin disease in the organ (Mysm1, Vangl1, Trpc4ap, Nom1, Sparc, Farp2, and Prkab1, while others were ascribed new cutaneous functions on the basis of the screening approach (Krt76, Lrig1, Myo5a, Nsun2, and Nf1. The integration of these skin specific screening protocols into the Sanger-MGP primary phenotyping pipelines marks the largest reported reverse genetic screen undertaken in any organ and defines approaches to maximise the productivity of future projects of this nature, while flagging genes for further characterisation.

  17. Comparative Haploid Genetic Screens Reveal Divergent Pathways in the Biogenesis and Trafficking of Glycophosphatidylinositol-Anchored Proteins

    Directory of Open Access Journals (Sweden)

    Eric M. Davis

    2015-06-01

    Full Text Available Glycophosphatidylinositol-anchored proteins (GPI-APs play essential roles in physiology, but their biogenesis and trafficking have not been systematically characterized. Here, we took advantage of the recently available haploid genetics approach to dissect GPI-AP pathways in human cells using prion protein (PrP and CD59 as model molecules. Our screens recovered a large number of common and unexpectedly specialized factors in the GPI-AP pathways. PIGN, PGAP2, and PIGF, which encode GPI anchor-modifying enzymes, were selectively isolated in the CD59 screen, suggesting that GPI anchor composition significantly influences the biogenesis of GPI-APs in a substrate-dependent manner. SEC62 and SEC63, which encode components of the ER-targeting machinery, were selectively recovered in the PrP screen, indicating that they do not constitute a universal route for the biogenesis of mammalian GPI-APs. Together, these comparative haploid genetic screens demonstrate that, despite their similarity in overall architecture and subcellular localization, GPI-APs follow markedly distinct biosynthetic and trafficking pathways.

  18. Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling.

    Science.gov (United States)

    Charlwood, J; Clayton, P; Keir, G; Mian, N; Young, E; Winchester, B

    1998-07-01

    Two pregnancies at risk for the carbohydrate-deficient glycoprotein syndrome Type 1A (CDG1A, phosphomannomutase deficient) were monitored by enzyme and genetic linkage analyses. The index case in both families had a proven deficiency of phosphomannomutase (PMM). An unaffected fetus was predicted in family 1 following amniocentesis. Normal PMM activity was found in cultured amniotic fluid cells and there was no elevation of lysosomal enzymes in the amniotic fluid. Genetic linkage analysis using microsatellite markers closely linked to the CDG1A gene confirmed this prediction. A healthy child was born. In the second family direct assay of chorionic villi showed a profound deficiency of PMM and genetic linkage analysis showed the fetus to have the same haplotype as the proband. The pregnancy was terminated and a deficiency of PMM was confirmed in cultured fibroblasts from the fetus. Reliable prenatal diagnosis of CDG Type 1A (PMM-deficient) can be achieved by a combination of biochemical and molecular genetic tests.

  19. Prenatal diagnosis of a fetus with anencephaly and thumb agenesis.

    Science.gov (United States)

    Barone, Chiara; Bartoloni, Giovanni; Cataliotti, Antonella; Indaco, Lara; Pappalardo, Elisa; Barrano, Barbara; Ettore, Giuseppe; Bianca, Sebastiano

    2012-03-01

    Severe anomalies of the forebrain together with reduction limb anomalies are a rare congenital anomalies association. We report a prenatal diagnosis of acalvaria, anencephaly and thumb agenesis in a voluntary terminated fetus and discuss the role of genetic counseling.

  20. Sirenomelia: Case Report and Discussion of its Prenatal Diagnosis

    African Journals Online (AJOL)

    KEY WORDS: Diabetes mellitus, dysmorphic lower limb, prenatal diagnosis, sirenomelia ... get any routine investigation done. ... study. In view of a congenitally anomalous fetus, tocolysis was not given and ... associated genetic predisposition.

  1. Infrastructure and Educational Needs of Newborn Screening Short-Term Follow-Up Programs within the Southeast Regional Newborn Screening & Genetics Collaborative: A Pilot Survey

    Directory of Open Access Journals (Sweden)

    Cecelia A. Bellcross

    2015-10-01

    Full Text Available Newborn screening (NBS follow-up protocols vary significantly by state, and there is a need to better understand the infrastructure and communication flow of NBS programs. In addition, assessment of the educational needs of families and providers with regard to the implications of NBS results is required to inform the development of appropriate informational resources and training opportunities. To begin to address these issues, we administered a web-based survey to state NBS coordinators within the Southeast Regional Newborn Screening & Genetics Collaborative (SERC. Fourteen coordinators responded to the survey, including at least one from each of the 10 SERC states/territories. Over one-third of respondents had never received formal training regarding the metabolic conditions identified on NBS. Most communicated results via telephone or fax, though two centers indicated use of a web-based platform. Only two programs were involved in directly reporting results to the family. Four programs reported a long-term follow-up protocol. Deficits were noted for primary care provider (PCP knowledge of metabolic disorders identified on NBS, and how to inform parents of abnormal results. Close to half indicated that the adequacy of the number of genetic counselors, dietitians, and medical/biochemical geneticists was minimal to insufficient. Respondents uniformly recognized the importance of providing additional educational and informational resources in multiple categories to NBS staff, PCPs, and families.

  2. Informed Consent - Attitudes, knowledge and information concerning prenatal examination

    DEFF Research Database (Denmark)

    Dahl, Katja; Kesmodel, Ulrik; Hvidman, Lone

      Background:Prenatal screening has become an ever increasing part of antenatal care in the western part of the world. Providing women with information enabling an informed consent to prenatal examinations has been widely recommended, with women accepting or declining the screening tests offered...... in full understanding of pros and contra.Objective and hypothesis:To summarize current knowledge of women's expectations and attitudes concerning prenatal examinations as well as the amount of knowledge possessed by pregnant women undergoing prenatal examinations. Reasons for accepting or declining...... a screening test offered, as well as the influence of information in the decision-making process is also explored. Methods:The review is based on systematic search strategy in the electronic databases Medline and Science Citation. Additional studies were identified through reference lists of individual papers...

  3. HbH病产前筛查与妊娠结局的影响因素研究%The study on the factors of missed prenatal screening on thalassemia.

    Institute of Scientific and Technical Information of China (English)

    胡华; 包碧惠; 姚宏; 徐刚; 胡斌; 梁志清

    2011-01-01

    目的 探讨HbH病产前筛查和妊娠结局的影响因素.方法 通过MCV、MCH、MCHC、Hb、家族史等指标收集2007年至2011年孕前或产前筛查为地中海贫血的高危女性,并通过地中海贫血基α因检测,确诊夫妻双方均为α-地中海贫血携带者的产前诊断病例,进行羊水α和β地中海贫血基因检测,或脐带血进行血常规、血红蛋白电泳、基因检测,同时在孕中期进行胎儿系统彩超及超声心动图检查,将正常胎儿和重症地中海贫血胎儿彩超检查结果比较,最终进行胎儿地中海贫血的产前诊断.结果 通过上述指标筛查出HbH病高危孕妇病例35例,通过产前诊断确诊胎儿为重度地中海贫血病例11例,确诊为携带者病例13例,确诊为完全正常者病例11例,重度地中海贫血胎儿可出现心胸比例增大、胎盘厚度、腹水等溶血性贫血症状.对所有产前筛查孕妇病例进行随访,无漏诊病例.结论 基因检测和B超协助筛查可尽可能的避免HbH病的漏诊,HbH病胎儿的妊娠结局与地中海贫血基因型、父母选择、胎次等因素有着密切关系.%Objective; To study the prenatal diagnosis and missed diagnosis on thalassemia. Methods; Collect the pregnancy women of high risk through the MCV, MCH, MCHC, Hb and family history from 2007 to 2011. Then through the gene detection the couple who were both carriers of thalassemia was screened and diagnosised by amniotic fluid and cord blood. During the middle preg-nancy check the ultrasound and echocardiography. Compare the Bart thalassemia fetal with normal on cardiothoracic ratio, placental thickness, pericardial effusion, pleural effusion, ascites, subcutaneous edema, cord edema. Results; Through above index 2050 preg-nancy women of high risk were screened. There were 35 cases which the couple was both thalassemia carriers. They were prenatal diag-nosised in which there were 11 heavy thalassemia, 13 thalassemia carrier and 11 normal. Bart

  4. Study on prenatal screening of birth defect and fetal chromosomal abnormality%产前筛查先天性缺陷与胎儿染色体异常的研究

    Institute of Scientific and Technical Information of China (English)

    钟可文; 陈朝轩; 潘景良; 张应华

    2011-01-01

    Objective; To explore the junction and value of serum markers during the second trimester of pregnancy in prenatal screening of birth defect and fetal chromosomal abnormality. Methods; The serum levels of alpha fetal protein ( AFT), β - human chorionic gonadotropin ( β - HCC) and unconjugated eslriol among 2 555 pregnant women during the second trimester of pregnancy (14-22 gestation-al weeks) were detected, then risk probability was calculated combining maternal age, gestational weeks, body weight, twin pregnancy or not, diabetes mellitus or not on software; the high risk pregnant women were defined by chromosomal examination. Results; Among 2 555 pregnant women, 210 pregnant women were found with high risk of Downs syndrome, accounting for 8. 2% ; 26 pregnant women were found with high risk of trisomy 18 syndrome, accounting for 1.0% ; 29 pregnant women were found with high risk of neural tube defect, accounting for 1. 1%. Among the high risk pregnant women, 207 pregnant women received chromosomal examination of amniotic fluid cells or chromosomal examination of fetal umbilical cord blood, 12 pregnant women were found with abnormal chromosomal karyotype, the abnormal rate was 5. 8%. Conclusion; Triple markers screening during the second trimester of pregnancy is an effective method to screen fetal congenital defects, which can be used as a conventional method for prenatal screening.%目的:探讨孕中期血清标志物在产前筛查先天性缺陷与胎儿染色体异常中的作用和价值.方法:对2 555例孕中期(14 ~22周)孕妇血清AFP、β- hCG、和uE3三项指标进行检测,并结合孕妇年龄、孕周、体重、是否双胎、有无糖尿病等,采用仪器配套软件计算风险概率,对高风险孕妇进行染色体检查确认.结果:2 555例孕妇中筛查出唐氏综合征高风险210例,占8.2%,18-三体高风险26例,占1.0%,NTD高风险29例,占1.1%,高风险孕妇中有207例自愿进行了羊水细胞染色体检查或胎

  5. 桂西地区产前筛查人群珠蛋白生成障碍性贫血基因型分布%Genotype distribution of population screening for thalassemia prenatal in western area of Guangxi

    Institute of Scientific and Technical Information of China (English)

    陈丽坤; 韦国凯; 陈湘壬; 黄丽梅; 廖珍艺; 王俊利; 韦贵将

    2015-01-01

    目的:调查桂西地区产前筛查人群珠蛋白生成障碍性贫血(简称地贫)的基因携带率、基因型及其分布特征。方法回顾性分析2012~2013年桂西地区的右江民族医学院附属医院、百色市人民医院、百色市妇幼保健院共三家医院的以产前筛查为目的的育龄人群地贫检查相关数据,包括血常规、血红蛋白电泳、地贫基因检查等。结果收集到1718例(即859对)夫妇的地贫筛查的相关数据,得出育龄人群中地贫基因携带者651例,地贫总发生率为37.90%,其中α‐地贫347例,发生率为20.20%,β‐地贫304例,发生率为17.70%,α‐地贫复合β‐地贫54例,发生率为3.14%。共检出携带有相同α或β‐地贫基因型的高风险夫妇53对,占参检夫妇对数的6.17%。结论桂西地区产前筛查育龄人群地贫基因携带率近40%,其中α‐地贫基因型以αα/‐‐SEA和αα/‐α3.7为主;β‐地贫基因型以β17M/N和β41‐42M/N为主;此数据可为该地区育龄人群的地贫防控提供支持。%Objective To investigate gene carrying rate ,genotype and distribution characteristics of population screening for thalassemia prenatal in western area of Guangxi .Methods Relevant data of population screening for thalassemmia from 2012 to 2013 in Affiliated Hospital of Youjiang Medical University for Nationalities ,People′s Hospital of Baise City and Maternity and Child Care Hospital of Baise City were analyzed retrospectively ,including blood routine examination ,hemoglobin electrophoresis ,thalassemia gene inspection .Results Data of 1 718 cases (859 couples) screening thalassemia were collected ,there were 651 persons carrying thalassemia gene ,the total incidence rate was 37 .90% ,including α‐thalassemia 347 cases (20 .20% ) ,β‐thalassemia 304 cases (17 .70% ) ,α‐thalassemia complex β‐thalassemia 54 cases(3 .14% ) .A total of 53 couples with

  6. 血常规及Hb电泳在孕期筛查地中海贫血的临床价值分析%Clinical significance of blood routine test and Hb electrophoresis in prenatal screening of thalassemia

    Institute of Scientific and Technical Information of China (English)

    李娟; 黄楠

    2015-01-01

    目的::探讨产前筛查地中海贫血的临床意义。方法:通过回顾性分析,对就诊的2284例中孕期孕妇进行血常规、血红蛋白电泳检查进行地中海贫血筛查分析,对表型阳性的样本进一步行地中海贫血基因检测。结果:2284例孕妇中,地中海贫血筛查阳性的有139例(6.09%),经基因检测确诊为地中海贫血的125例(5.60%),地中海贫血筛查的诊断符合率较高89.93%(125/139)。结论:地中海贫血基因检测要求高,方法繁琐,地中海贫血筛查方法简单,诊断符合率较高,可用于基层医院筛查地中海贫血。%Objective: To investigate the clinical significance of prenatal screening of thalassemia. Methods2284 cases of pregnant women in the second trimester, screened for thalassemia phenotype through blood routine test and hemoglobin electrophoresis were retrospectively analyzed, and the positive samples were further detected for thalassemia gene. ResultsIn 2284 cases of pregnant women,139 cases ware positive(6.09%), and 125 cases were confirmed by thalassemia gene detection (5.60%). The diagnosis rate of screening of thalassemia was higher,89.93% (125/139). Conclusions Thalassemia gene detection is expensive and complicated, while the screening method is more simple, and the rate of diagnosis is relatively high. Therefore,it can be used in basic hospital.

  7. Integrated screening concept in women with genetic predisposition for breast cancer; Integriertes Frueherkennungskonzept bei Frauen mit genetischer Praedisposition fuer Brustkrebs

    Energy Technology Data Exchange (ETDEWEB)

    Bick, U. [Muenster Univ. (Germany). Inst. fuer Klinische Radiologie

    1997-08-01

    Breast cancer is in 5% of cases due to a genetic disposition. BRCA1 and BRCA2 are by far the most common breast cancer susceptibility genes. For a woman with a genetic predisposition, the individual risk of developing breast cancer sometime in her life is between 70 and 90%. Compared to the spontaneous forms of breast cancer, woman with a genetic predisposition often develop breast cancer at a much younger age. This is why conventional screening programs on the basis of mammography alone cannot be applied without modification to this high-risk group. In this article, an integrated screening concept for women with genetic prodisposition for breast cancer using breast self-examination, clinical examination, ultrasound, mammography and magnetic resonance imaging is introduced. (orig.) [Deutsch] Mammakarzinome sind in etwa 5% auf eine genetische Disposition zurueckzufuehren. Am haeufigsten finden sich Mutationen im Bereich der Gene BRCA1 und BRCA2. Frauen mit einer genetischen Disposition erkranken in etwa 70-90% im Laufe ihres Lebens an einem Mammakarzinom. Das Erkrankungsalter bei diesen Frauen liegt in der Regel deutlich niedriger als bei den spontanen Formen des Mammakarzinoms, so dass vorhandene Frueherkennungskonzepte auf der Basis eines Mammographiescrennings nicht ohne weiteres auf dieses Hochrisikokollektiv uebertragbar sind. Im folgenden wird ein integriertes Konzept zur Frueherkennung bei Frauen mit genetischer Praedisposition fuer ein Mammakarzinom auf der Basis von Brustselbstuntersuchung, klinischer Untersuchung, Sonographie, Mammographie und Magnetresonanztomographie vorgestellt. (orig.)

  8. Space mutagenesis of genetically engineered bacteria expressing recombinant human interferon α1b and screening of higher yielding strains.

    Science.gov (United States)

    Wang, Junfeng; Liu, Changting; Liu, Jinyi; Fang, Xiangqun; Xu, Chen; Guo, Yinghua; Chang, De; Su, Longxiang

    2014-03-01

    The aim of this study was to investigate the space mutagenesis of genetically engineered bacteria expressing recombinant human interferon α1b. The genetically engineered bacteria expressing the recombinant interferon α1b were sent into outer space on the Chinese Shenzhou VIII spacecraft. After the 17 day space flight, mutant strains that highly expressed the target gene were identified. After a series of screening of spaceflight-treated bacteria and the quantitative comparison of the mutant strains and original strain, we found five strains that showed a significantly higher production of target proteins, compared with the original strain. Our results support the notion that the outer space environment has unique effects on the mutation breeding of microorganisms, including genetically engineered strains. Mutant strains that highly express the target protein could be obtained through spaceflight-induced mutagenesis.

  9. [Genetic cancer syndromes and reproductive choice: dialogue between parents and politicians on preimplantation genetic diagnosis

    NARCIS (Netherlands)

    Niermeijer, M.F.; Die-Smulders, C.E.M. de; Page-Christiaens, G.C.; Wert, G.M.W.R. de

    2008-01-01

    Genetic cancer syndromes have identical clinical severity, limited therapeutic options, reduced life expectancy, and risks of genetic transmission, as do other genetic or congenital diseases for which prenatal genetic diagnosis or preimplantation genetic diagnosis (PGD) is allowed in the

  10. [Genetic cancer syndromes and reproductive choice: dialogue between parents and politicians on preimplantation genetic diagnosis

    NARCIS (Netherlands)

    Niermeijer, M.F.; Die-Smulders, C.E.M. de; Page-Christiaens, G.C.; Wert, G.M.W.R. de

    2008-01-01

    Genetic cancer syndromes have identical clinical severity, limited therapeutic options, reduced life expectancy, and risks of genetic transmission, as do other genetic or congenital diseases for which prenatal genetic diagnosis or preimplantation genetic diagnosis (PGD) is allowed in the Netherlands

  11. 利用母血中胎儿有核红细胞结合血清筛查和三维超声无创性产前诊断唐氏综合征%Noninvasive prenatal screening of Down's syndrome by fetal nucleated erythrocytes detection in maternal blood combined with serum screening and three-dimensional ultrasound

    Institute of Scientific and Technical Information of China (English)

    相文佩; 温子娜; 水丽君; 徐晓燕; 陈汉平

    2011-01-01

    目的:利用母外周血中胎儿有核红细胞结合血清三联筛查及三维超声,建立快速无创性产前诊断唐氏综合征的有效模式.方法:早、中期孕妇共670例,采取血清三联筛查结合三维超声和病史选取唐氏高危孕妇,抽取高危孕妇的外周血,流式细胞术富集母血中的胎儿有核红细胞(Fetal Nucleated Red Blood Cells,FNRBCs);次日进行多重引物原位杂交(mutiprimed in situ labeling,multi-PRINS)检测胎儿细胞21号染色体与Y染色体.结果:通过血清三联筛查和三维超声结合病史筛选出高危孕妇24例,高危孕妇在两日内即可确诊,24例中诊断23例染色体正常胎儿,包括男胎12例、女胎11例;诊断1例男性唐氏综合征胎儿.24例标本检测结果和实际胎儿核型符合.结论:血清三联筛查、超声检查结合病史筛选出高危孕妇,然后利用母血中胎儿有核红细胞进行多重引物原位杂交检测细胞染色体,可作为快速、无创性产前诊断唐氏综合征的有效模式,并可为其他胎儿染色体基因异常或者宫内感染的无创性产前诊断提供参考.%Objective: To establish a rapid and effective noninvasive prenatal diagnostic model of Down's syndrome by fetal nucleated erythrocytes detection in maternal blood combined with serum triple screening and three -dimensional ultrasound. Methods:670 pregnant women of early, middle and late pregnancy were selected, the high risk pregnant women of Down's syndrome were chosen by senun triple screening combined with three - dimensional ultrasound and medical history; the peripheral blood samples of high risk pregnant women were abstracted, flow cytometry was used to enrich fetal nucleated erythrocytes in maternal blood; on the following day, multiple - primer in situ hybridization was used to detect Y chromosome and 21 chromosome in fetal cells. Results:24 high risk pregnant women of Down's syndrome were screened out by serum triple screening combined with

  12. Non-Invasive Prenatal Testing Using Cell Free DNA in Maternal Plasma: Recent Developments and Future Prospects

    Directory of Open Access Journals (Sweden)

    Peter Benn

    2014-05-01

    Full Text Available Recent advances in molecular genetic technologies have facilitated non-invasive prenatal testing (NIPT through the analysis of cell-free fetal DNA in maternal plasma. NIPT can be used to identify monogenic disorders including the identification of autosomal recessive disorders where the maternally inherited mutation needs to be identified in the presence of an excess of maternal DNA that contains the same mutation. In the future, simultaneous screening for multiple monogenic disorders is anticipated. Several NIPT methods have been developed to screen for trisomy. These have been shown to be effective for fetal trisomy 21, 18 and 13. Although the testing has been extended to sex chromosome aneuploidy, robust estimates of the efficacy are not yet available and maternal mosaicism for gain or loss of an X-chromosome needs to be considered. Using methods based on the analysis of single nucleotide polymorphisms, diandric triploidy can be identified. NIPT is being developed to identify a number of microdeletion syndromes including α-globin gene deletion. NIPT is a profoundly important development in prenatal care that is substantially advancing the individual patient and public health benefits achieved through conventional prenatal screening and diagnosis.

  13. Non-Invasive Prenatal Testing Using Cell Free DNA in Maternal Plasma: Recent Developments and Future Prospects.

    Science.gov (United States)

    Benn, Peter

    2014-05-21

    Recent advances in molecular genetic technologies have facilitated non-invasive prenatal testing (NIPT) through the analysis of cell-free fetal DNA in maternal plasma. NIPT can be used to identify monogenic disorders including the identification of autosomal recessive disorders where the maternally inherited mutation needs to be identified in the presence of an excess of maternal DNA that contains the same mutation. In the future, simultaneous screening for multiple monogenic disorders is anticipated. Several NIPT methods have been developed to screen for trisomy. These have been shown to be effective for fetal trisomy 21, 18 and 13. Although the testing has been extended to sex chromosome aneuploidy, robust estimates of the efficacy are not yet available and maternal mosaicism for gain or loss of an X-chromosome needs to be considered. Using methods based on the analysis of single nucleotide polymorphisms, diandric triploidy can be identified. NIPT is being developed to identify a number of microdeletion syndromes including α-globin gene deletion. NIPT is a profoundly important development in prenatal care that is substantially advancing the individual patient and public health benefits achieved through conventional prenatal screening and diagnosis.

  14. Diagnóstico Prenatal

    OpenAIRE

    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

  15. Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and β-thalassemia in Saudi Arabia

    National Research Council Canada - National Science Library

    Memish, Ziad Ahmed; Saeedi, Mohammad Y

    2011-01-01

    Saudi Arabia has a high prevalence of hereditary hemoglobin disorders. Data has been collected by the Saudi Premarital Screening and Genetic Counseling Program on the prevalence of sickle cell disease and β...

  16. 平行移位检查法筛查胎儿膝关节屈曲方向异常%Prenatal screening the abnormal flexed direction of knee joints by parallel moving examination

    Institute of Scientific and Technical Information of China (English)

    钱敏; 张丹; 孟焱; 翟林; 郑蓉

    2011-01-01

    目的 探讨平行移位检查法(PME)在产前筛查胎儿膝关节屈曲方向异常的价值.方法 4623例胎儿在常规筛查胎儿畸形的同时,应用PME检查法观察膝关节的屈曲方向,并注意观察胎儿四肢长骨的长度.结果 在所有受检妊娠胎儿中超声共观察到3例膝关节屈曲方向异常,检出率约为0.6‰.3例胎儿均足月行剖宫产分娩证实,均为女性患儿,其中Larsen综合征1例、先天性膝关节脱位2例.结论 PME检查法可观察胎儿膝关节屈曲方向,判断是否存在大关节形态异常,敏感性高,可有效提高胎儿大关节畸形的产前超声检出率.%Objective To investigate the value of parallel moving examination ( PME ) in prenatal screening the abnormal flexed direction of knee joints. Methods A total of 4623 fetus were examined by conventional ultrasound, and the fetal flexed direction of knee joint was observed by PME, the length of long bones of limbs was observed too. Results There were 3 cases of abnormal flexed direction of knee joints in all fetuses, the detection rate was 0. 6‰. 3 fetuses were females and confirmed by cesarean section, including 1 case of Larsen syndrome, 2 cases of congenital dislocation of knee joint. Conclusion PME ultrasonic examination can observe the flexed direction of knee joint, and evaluate the condition of knee joints. PME can improve the prenatal diagnostic rate of congenital big joints abnormity in fetus.

  17. Pre-marital screening for sickle cell haemoglobin and genetic counseling: awareness and acceptability among undergraduate students of a Nigerian University

    OpenAIRE

    Ugwu N.I.

    2016-01-01

    Background: Sickle cell disease (SCD) is a genetic disease which is more prevalent in developing countries. Pre-marital screening for sickle cell disorder is helpful in the prevention and control of the condition. Aim: The aim of this study was to assess the level of awareness and acceptability of premarital genetic counseling and screening for sickle cell haemoglobin among undergraduate students of Ebonyi State University Abakaliki, South eastern, Nigeria. Methods: A cross-sectio...

  18. Prenatal Diagnosis of Arachnoid Cysts

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2007-09-01

    Full Text Available Arachnoid cysts are a rare central nervous system malformation, representing only 1% of all intracranial masses in newborns. Primary (congenital arachnoid cysts are benign accumulation of clear fluid between the dura and the brain substance throughout the cerebrospinal axis in relation to the arachnoid membrane and do not communicate with the subarachnoid space. Secondary (acquired arachnoid cysts result from hemorrhage, trauma, and infection and usually communicate with the subarachnoid space. The common locations of arachnoid cysts are the surface of the brain at the level of main brain fissures, such as sylvian, rolandic and interhemispheric fissures, sella turcica, the anterior cranial fossa, and the middle cranial fossa. Arachnoid cysts may be associated with ventriculomegaly and dysgenesis of corpus callosum. Prenatal ultrasound and magnetic resonance imaging have led to the increased diagnosis of fetal arachnoid cysts. This article provides a thorough review of fetal arachnoid cysts, including prenatal diagnosis, differential diagnosis and associated chromosomal abnormalities, as well as comprehensive illustrations of perinatal imaging findings of fetal arachnoid cysts. Prenatal diagnosis of intracranial hypoechoic lesions should include a differential diagnosis of arachnoid cysts and prompt genetic investigations.

  19. Impact of human genome initiative-derived technology on genetic testing, screening and counseling: Cultural, ethical and legal issues

    Energy Technology Data Exchange (ETDEWEB)

    Trottier, R.W.; Hodgin, F.C.; Imara, M.; Phoenix, D.; Lybrook, S. (Morehouse Coll., Atlanta, GA (United States). School of Medicine); Crandall, L.A.; Moseley, R.E.; Armotrading, D. (Florida Univ., Gainesville, FL (United States). Coll. of Medicine)

    1993-01-01

    Genetic medical services provided by the Georgia Division of Public Health in two northern and two central districts are compared to services provided in a district in which a tertiary care facility is located. Genetics outreach public health nurses play key roles in Georgia's system of Children's Health Services Genetics Program, including significant roles as counselors and information sources on special needs social services and support organizations. Unique features of individual health districts, (e.g., the changing face of some rural communities in ethnocultural diversity and socioeconomic character), present new challenges to current and future genetics services delivery. Preparedness as to educational needs of both health professionals and the lay population is of foremost concern in light of the ever expanding knowledge and technology in medical genetics. Perspectives on genetics and an overview of services offered by a local private sector counselor are included for comparison to state supported services. The nature of the interactions which transpire between private and public genetic services resources in Georgia will be described. A special focus of this research includes issues associated with sickle cell disease newborn screening service delivery process in Georgia, with particular attention paid to patient follow-up and transition to primary care. Of particular interest to this focus is the problem of loss to follow-up in the current system. Critical factors in education and counseling of sickle cell patients and the expectations of expanding roles of primary care physicians are discussed. The Florida approach to the delivery of genetic services contrasts to the Georgia model by placing more emphasis on a consultant-specialist team approach.

  20. 北京平谷区三年出生缺陷产前超声筛查分析%Prenatal Ultrasound Screening Analysis for the Birth Defects within 3 Years in Pinggu District in Beijing

    Institute of Scientific and Technical Information of China (English)

    刘大平

    2013-01-01

    Objective Ultrasonography in prenatal screening for birth defects diagnosis,understanding of the region the incidence of birth defects,in order to reduce the occurrence of congenital malformation.Methods In 2007,2008,my area,2009 (statistical time for every year from October 1st to next September 30th) delivery within seven days after the diagnosis of birth defects and ultrasound examination results were analyzed.Results In three years the region a total of 162 infants with birth defects,a