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Sample records for amniocentesis

  1. [Amniotic fluid, amniocentesis, postmaturity].

    Science.gov (United States)

    Almazán Díaz, M

    1979-01-01

    The exchange among the elements of amniotic liquid is a dinamic process which keeps stable the concentration of their components, showing a variable relation with the maternal plasma in the differents stages of gestation. Thus the formations of the kidneys modifies the amniotic liquid with the urine excretion and then, factors as swallowing; the secretions of the skin and bronchi are factors which are implicated in its production. The amniocentesis is important in the study of high risk fetus, particulary with a prognostic value in the pregnancy sensitized to the Rh factor. The non cultivated celle give us information about the sexual chromatine and enzymes, to get a quick diagnosis, but this has to be confirmed with a culture cells for a final diagnosis, especially in diseases caused by inborn errors of metabolism.

  2. Chorionic villus sampling and amniocentesis.

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    Brambati, Bruno; Tului, Lucia

    2005-04-01

    The advantages and disadvantages of common invasive methods for prenatal diagnosis are presented in light of new investigations. Several aspects of first-trimester chorionic villus sampling and mid-trimester amniocentesis remain controversial, especially fetal loss rate, feto-maternal complications, and the extension of both sampling methods to less traditional gestational ages (early amniocentesis, late chorionic villus sampling), all of which complicate genetic counseling. A recent randomized trial involving early amniocentesis and late chorionic villus sampling has confirmed previous studies, leading to the unquestionable conclusion that transabdominal chorionic villus sampling is safer. The old dispute over whether limb reduction defects are caused by chorionic villus sampling gains new vigor, with a paper suggesting that this technique has distinctive teratogenic effects. The large experience involving maternal and fetal complications following mid-trimester amniocentesis allows a better estimate of risk for comparison with chorionic villus sampling. Transabdominal chorionic villus sampling, which appears to be the gold standard sampling method for genetic investigations between 10 and 15 completed weeks, permits rapid diagnosis in high-risk cases detected by first-trimester screening of aneuploidies. Sampling efficiency and karyotyping reliability are as high as in mid-trimester amniocentesis with fewer complications, provided the operator has the required training, skill and experience.

  3. Amniocentesis

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    ... premature birth The newborn intensive care unit (NICU) Birth defects & other health conditions Loss & grief Tools & Resources Frequently asked health questions Calculating your due date Ovulation calendar Order bereavement materials News Moms Need Blog Stories & Media ...

  4. Amniocentesis

    Science.gov (United States)

    ... you have about maintaining or ending your pregnancy Risks Risks are minimal, but may include: Infection or ... American College of Obstetricians and Gynecologists, Group Health Cooperative, Bellevue, WA. Also reviewed by David Zieve, MD, ...

  5. Balanced Reciprocal Translocations Detected at Amniocentesis

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    Chih-Ping Chen

    2010-12-01

    Conclusion: Balanced reciprocal translocations detected at amniocentesis may be associated with fetal anomalies in cases of concomitant aneuploidy, de novo X-autosome translocation or de novo CCR. Genetic counseling of a de novo simple reciprocal translocation at amniocentesis remains difficult because approximately one-fourth of the parents opt for termination of the pregnancy, and detailed ultrasonography and array comparative genomic hybridization are helpful for parental counseling under such circumstances.

  6. Clinical correlates of pain with second-trimester genetic amniocentesis.

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    Suntornlimsiri, Watcharin; Naunkeaw, Kanchana

    2009-12-01

    To determine the correlation of clinical factors and maternal perceptions of pain with genetic amniocentesis. This prospective study of midtrimester, singleton pregnancies was conducted between February 2007 and March 2008. Study variables included patient dermographics, previous amniocentesis, previous abdominal surgery, maternal anxiety score, abdominal wall thickness, needle insertion through placenta and the depth of needle insertion. Maternal pain with performing amniocentesis was subjectively quantified with the Thai short-form McGill Pain Questionnaire. The independent T-test, one way ANOVA and linear regression were used for analysis, a probability value of shooting, throbbing and sharp. Parity, gestational age, maternal BMI, anxiety score, previous surgery, needle insertion through the placenta, abdominal wall thickness and the depth of needle insertion were not correlated with perceived pain. Most of the women reported no pain or mild or discomfort with genetic amniocentesis. Clinical factors were not associated with maternal perceptions of pain.

  7. Comparison of Complications of Chorionic Villus Sampling and Amniocentesis

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    Nahid Shahbazian

    2012-01-01

    Full Text Available Background: A significant number of pregnancies are associated with the cytogenetic abnormalities of the fetus. Amniocentesis and chorionic villus sampling (CVS are procedures used for prenatal genetic diagnosis. In this study, we compare the safety and complications of mid-trimester amniocentesis and transabdominal CVS.Materials and Methods: This analytic cross-sectional study was performed in 308 patients from2.11.2007 to 26.10.2009. We had 155 cases of amniocentesis, which we performed in weeks 15-23 of pregnancy; and 153 cases of CVS, which we performed during weeks 10-14 of pregnancy.Results: There were 2 cases (1.2% of premature rupture of membrane (PROM in amniocentesis which occurred 1 and 10 days after the procedure and caused pregnancy loss before 20 weeks. We had 1 case (0.7% of abortion in CVS, which occurred 10 days after the procedure. Additionally, there was 1 case of amniotic fluid leakage (0.7% in which, after admission to the hospital and observation, leakage was stopped and the pregnancy continued normally.Conclusion: In this study, we had more complications with amniocentesis cases than CVS. CVS is a procedure performed in the earlier stages of pregnancy and its complications are less than amniocentesis. We suggest CVS to be the procedure of choice for genetic diagnosis.

  8. Human sex ratio at amniocentesis and at birth in Taiwan

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    I-Wen Lee

    2012-12-01

    Conclusions: The results showed that sex ratio was already skewed toward male at midtrimester. Our data imply that artificial sex selection, if it were present, might have already emerged prior to the timing of amniocentesis. However, more large nationwide studies on sex ratios in Taiwan are warranted.

  9. Mosaic trisomy 17 at amniocentesis: Prenatal diagnosis, molecular genetic analysis, and literature review

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    Chih-Ping Chen

    2016-10-01

    Conclusion: Low-level mosaicism for trisomy 17 detected by amniocentesis without ultrasound abnormality can be associated with a favorable outcome. Molecular genetic analysis of uncultured amniocytes at repeat amniocentesis is useful for genetic counseling. A review of the literature shows a correlation between an adverse fetal outcome and a higher trisomy 17 mosaicism level at amniocentesis associated with ultrasound abnormality.

  10. Early amniocentesis: experience of 222 consecutive patients, 1987-1988.

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    Nevin, J; Nevin, N C; Dornan, J C; Sim, D; Armstrong, M J

    1990-02-01

    Early amniocentesis from 9 to 14 weeks' gestation provides a safe and accurate method of prenatal diagnosis of cytogenetic and biochemical disorders. There was a 100 per cent success rate in culturing the amniotic cells from 222 samples obtained between 9 and 14 weeks' gestation. Follow-up of the patients to delivery revealed an abortion rate of 1.4 per cent. Among the 207 live- and stillborn infants, only one had a congenital abnormality (bilateral talipes equino-varus) and no infant had respiratory distress syndrome or pneumonia. Eleven pregnancies were terminated following the detection of a chromosomal, biochemical, or congenital abnormality (5.0 per cent). However, before the procedure of early amniocentesis becomes routine clinical practice, it requires appraisal by a randomized clinical trial.

  11. Clostridium perfringens Sepsis and Fetal Demise after Genetic Amniocentesis

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    Nancy W. Hendrix

    2011-09-01

    Full Text Available Clostridium perfringens is a rare cause of intrauterine infection. There have been five case reports concerning infection associated with invasive procedures. We report a woman who underwent a genetic amniocentesis due to her history of chronic granulomatous disease. She presented to the hospital ~38 hours after the amniocentesis complaining of fever and chills. Due to acute decompensation, she underwent an emergent dilatation and evacuation. During her stay, blood cultures came back positive for C. perfringens. Gradual improvement with intensive monitoring led to hospital discharge 4 days after the procedure. Uterine infection due to C. perfringens leading to maternal sepsis is associated with a high morbidity and mortality rate. Our patient was able to survive without a hysterectomy due to the rapid administration of antibiotics and surgical intervention while being evaluated.

  12. Congenital Cytomegalovirus Infection: Prognostic Value of Maternal DNAemia at Amniocentesis.

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    Simonazzi, Giuliana; Cervi, Francesca; Zavatta, Alice; Pellizzoni, Laura; Guerra, Brunella; Mastroroberto, Marianna; Morselli-Labate, Antonio Maria; Gabrielli, Liliana; Rizzo, Nicola; Lazzarotto, Tiziana

    2017-01-15

    Human Cytomegalovirus (HCMV) is the most common cause of childhood hearing loss and can lead to neurodevelopmental delay. To date, few studies have examined the correlation between maternal viremia and congenital HCMV infection. The aim of our study was to ascertain if HCMV DNA in the peripheral blood of pregnant women with primary HCMV infection at the time of amniocentesis may have a prognostic value in terms of congenital infection and neonatal symptomatic disease. We performed a prospective observational study of pregnant women referred to our maternal-fetal medicine division with suspected HCMV infection. Primary infection was diagnosed based on seroconversion for HCMV and/or HCMV immunoglobulin M-positive and low or moderate HCMV immunoglobulin G avidity. At the time of amniocentesis, maternal blood samples were collected and analyzed by means of real-time polymerase chain reaction to determine the presence of viral DNAemia. Fetuses and newborns were evaluated for the presence of congenital infection and symptomatic disease. A total of 239 pregnant women were enrolled; 32 blood samples (13.4%) were positive, and 207 (86.6%) were negative for HCMV DNA. The overall rate of transmission was 23.4%. Fifteen infected patients (26.8%) were symptomatic. Vertical transmission occurred in 14 women (43.8%) with positive and 42 (20.3%) with negative results for HCMV DNAemia (P = .006; odds ratio, 3.06; 95% confidence interval, 1.41-6.64). Symptomatic infection occurred in 6 (42.9%) infected fetuses or newborns from women with and in 9 (21.4%) from women without viral DNAemia (P = .16). Maternal viremia at amniocentesis is associated with a 3-fold greater chance of congenital infection, but it is not correlated with symptomatic disease. © The Author 2016. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail journals.permissions@oup.com.

  13. Mosaic trisomy 2 at amniocentesis: Prenatal diagnosis and molecular genetic analysis

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    Chih-Ping Chen

    2012-12-01

    Conclusion: Prenatal diagnosis of a single colony with two or more cells with trisomy 2 at amniocentesis should alert a clinically significant aneuploidy, and interphase FISH on uncultured amniocytes is useful for rapid confirmation of low-level trisomy 2 mosaicism at amniocentesis. The abnormal cell line of trisomy 2 may disappear after long-term amniocyte cultures.

  14. Mosaic trisomy 15 at amniocentesis: Prenatal diagnosis, molecular genetic analysis and literature review

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    Chih-Ping Chen

    2015-08-01

    Conclusion: Prenatal diagnosis of mosaic trisomy 15 at amniocentesis should alert doctors about the occurrence of UPD 15 and a clinically significant phenotype. The present case provides evidence for cytogenetic discrepancy between uncultured and cultured amniocytes in mosaic trisomy 15 at amniocentesis. It is possible that the abnormal cell lines of amniocytes with trisomy 15 disappear after long-term cell culture.

  15. Randomised controlled trial of genetic amniocentesis in 4606 low-risk women

    DEFF Research Database (Denmark)

    Tabor, A; Philip, J; Madsen, Mette

    1986-01-01

    Outcome of pregnancy after amniocentesis was studied in a randomised controlled trial of 4606 women, age-range 25-34 years, without known risk of genetic disease. Spontaneous abortion rate was 1.7% in the study group after amniocentesis and 0.7% in the control group after ultrasound (relative risk...... amniocentesis/ultrasound scan, amniotic fluid leakage occurred more often in the study group but there was no difference in the rate of vaginal bleeding. Frequency of postural malformations in the infants in the two groups was the same. In the study group, respiratory distress syndrome was diagnosed more often...

  16. Mosaic tetrasomy 9p at amniocentesis: Prenatal diagnosis, molecular cytogenetic characterization, and literature review

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    Chih-Ping Chen

    2014-03-01

    Conclusion: Mosaic tetrasomy 9p at amniocentesis can be associated with fetal ascites and hydrops fetalis. The mosaic level of tetrasomy 9p may decrease after long-term tissue culture in amniocytes in case of mosaic tetrasomy 9p.

  17. Clinical Implications for Children Born With Congenital Cytomegalovirus Infection Following a Negative Amniocentesis.

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    Bilavsky, Efraim; Pardo, Joseph; Attias, Joseph; Levy, Itzhak; Magny, Jean-François; Ville, Yves; Leruez-Ville, Marianne; Amir, Jacob

    2016-07-01

    Recently, congenital cytomegalovirus (cCMV) infection was reported irrespective of a negative amniotic fluid prenatal analysis for cytomegalovirus (CMV). The question of whether this phenomenon represents low sensitivity of the test or late development of fetal infection (after amniocentesis) was discussed, but not answered. However, if late transmission is the rule, then infants born with cCMV after negative amniocentesis would be expected to carry better prognosis than those who tested positive. Data of all infants with cCMV infection, followed in 2 pediatric centers from 2006 to 2015, were reviewed. Infant outcome after birth of symptomatic vs asymptomatic disease was compared with infants born after a negative amniocentesis (study group) and those with a positive amniocentesis (control group). Amniocentesis was performed in 301 pregnancies of our cohort of infants with cCMV and was negative for CMV in 47 (15.6%). There were fewer symptomatic cCMV neonates in the study group than in the control group (4.3% vs 25%; P < .001). Hearing impairment at birth was also less frequent in the study group (2.2% vs 17.4%; P = .012). None of the children in the study group had neurologic sequelae at long-term follow up, compared with 13 (14.1%) in the control group (P < .001). Although negative amniocentesis does not exclude cCMV, infants with cCMV born after a negative amniocentesis seldom present with mild clinical symptoms or cerebral ultrasound features at birth. These children also have a very good long-term outcome. Our findings support the theory of a late development of fetal infection, after the time of the amniocentesis. © The Author 2016. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail journals.permissions@oup.com.

  18. Prenatal diagnosis and molecular cytogenetic characterization of low-level mosaic trisomy 12 at amniocentesis associated with a favorable pregnancy outcome

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    Chih-Ping Chen

    2017-04-01

    Conclusion: Low-level mosaic trisomy 12 at amniocentesis can be associated with a favorable pregnancy outcome. Interphase FISH and aCGH on uncultured amniocytes are useful for confirmation of low-level mosaic trisomy 12 at amniocentesis.

  19. Jejunal atresia related to the use of methylene blue in genetic amniocentesis in twins

    NARCIS (Netherlands)

    van der Pol, J. G.; Wolf, H.; Boer, K.; Treffers, P. E.; Leschot, N. J.; Hey, H. A.; Vos, A.

    1992-01-01

    OBJECTIVE: To calculate the incidence of jejunal atresia in newborns in The Netherlands. To study the relation between the occurrence of jejunal atresia and genetic amniocentesis to determine a possible iatrogenic cause for the unexpected high incidence of this anomaly in twins. DESIGN:

  20. Genetic amniocentesis in twin pregnancies: results of a multicenter study of 529 cases

    NARCIS (Netherlands)

    Pruggmayer, M.R.K.; M.G. Jahoda (M.); Van der Pol, J.G.; Baumann, P.; Holzgreve, W.; Karkut, G.; Lettau, R.; Eiben, B.; Osmers, R.; Gola, H.W.; Duda, V.; Polak, P.; Körner, H.; Schulte‐Valentin, M.; Schütte, H.

    1992-01-01

    textabstractTo evaluate the risk of abortion after genetic amniocentesis in twin pregnancies, a retrospective study of 15 centers was performed. The spontaneous abortion rate up to 20 completed weeks of gestation was 2.3%; the abortion rate up to 28 completed weeks, as defined by WHO, was 3.7%. The

  1. Use of a high-frequency aspiration-biopsy transducer for direct ultrasound-guided amniocentesis.

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    Bree, R L

    1979-04-01

    The techniques and applications of amniocentesis performed with a new high-frequency aspiration-biopsy transducer are described in detail. The advantages of this technique are greatest in third-trimester patients where active fetal motion and diminished amniotic fluid volumes make unguided punctures difficult or impossible. The ability to visualize small-caliber needles within the fluid space further enhances the effectiveness of this technique.

  2. Impact of Second-Trimester Maternal Serum Screening on Prenatal Diagnosis of Down Syndrome and the use of Amniocentesis in the Taiwanese Population

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    Chih-Ping Chen

    2005-03-01

    Conclusion: Both the number of women undergoing amniocentesis and the number of detected cases of Down syndrome increased during these years. Amniocentesis in this population no longer led to a significant improvement in the detection rate of Down syndrome. In view of the effective use of amniocentesis as a diagnostic procedure for Down syndrome, efforts should be made to use more efficient prenatal screening programs and to reduce the number of unnecessary amniocenteses.

  3. Phthalates and perfluorooctanesulfonic acid in human amniotic fluid: temporal trends and timing of amniocentesis in pregnancy.

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    Jensen, Morten Søndergaard; Nørgaard-Pedersen, Bent; Toft, Gunnar; Hougaard, David M; Bonde, Jens Peter; Cohen, Arieh; Thulstrup, Ane Marie; Ivell, Richard; Anand-Ivell, Ravinder; Lindh, Christian H; Jönsson, Bo A G

    2012-06-01

    Measures of prenatal environmental exposures are important, and amniotic fluid levels may directly reflect fetal exposures during hypothesized windows of vulnerability. We aimed to detect various phthalate metabolites and perfluorooctanesulfonic acid (PFOS) in human amniotic fluid, to study temporal exposure trends, and to estimate potential associations with gestational week of amniocentesis and maternal age and parity at amniocentesis. We studied 300 randomly selected second-trimester amniotic fluid samples from a Danish pregnancy-screening biobank covering 1980 through 1996. We used only samples from male offspring pregnancies. We assayed the environmental pollutants by liquid chromatography/triple quadrupole mass spectrometry and analyzed data using generalized linear regression models. We detected the di(2-ethylhexyl) phthalate (DEHP) metabolite mono(2-ethyl-5-carboxypentyl) phthalate (5cx-MEPP) at a median concentration of 0.27 ng/mL [interquartile range (IQR): 0.20-0.37 ng/mL], the diisononyl phthalate (DiNP) metabolite mono(4-methyl-7-carboxyheptyl) phthalate (7cx-MMeHP) at 0.07 ng/mL (IQR: 0.05-0.11 ng/mL), and PFOS at 1.1 ng/mL (IQR: 0.66-1.60 ng/mL). An increase of 1 calendar year was associated with 3.5% lower [95% confidence interval (CI): -4.8%, -2.1%] 5cx-MEPP levels and with 7.1% higher (95% CI: 5.3%, 9.0%) 7cx-MMeHP levels. For each later gestational week of amniocentesis, 5cx-MEPP was 9.9% higher (95% CI: 4.8%, 15.2%), 7cx-MMeHP was 8.6% higher (95: CI: 2.7%, 14.9%), and PFOS was 9.4% higher (95: CI: 3.3%, 15.9%). We observed no associations with maternal age or parity. Measured metabolite levels appeared to parallel decreasing DEHP exposure and increasing DiNP exposure during the study period. The environmental pollutant levels were positively associated with later gestational age at amniocentesis during pregnancy weeks 12-22.

  4. Interrogating the dynamics between power, knowledge and pregnant bodies in amniocentesis decision making.

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    Markens, Susan; Browner, Carole H; Mabel Preloran, H

    2010-01-01

    A common assumption is that women who decline prenatal testing distrust biomedicine and trust embodied/experiential knowledge sources, while women who accept testing trust biomedicine and distrust embodied/experiential sources. Another major assumption about prenatal testing utilisation is that women who are open to abortion will undergo prenatal testing while those who are opposed to abortion will decline testing. Yet, previous research has produced inconsistent findings as to what, if anything, distinguishes women who accept or decline the offer of prenatal diagnosis. Analysing interviews with 147 pregnant women, this paper questions these assumptions about the role of abortion views and pregnant women's relative trust in various knowledge sources on their decisions to accept or decline an amniocentesis offer after a positive result on an initial diagnostic screening. We found that pregnant women's attitudes toward different knowledge sources were equally, if not more, important factors than abortion views in affecting whether individual women accepted or declined amniocentesis. At the same time, our data reveal that the relationship between 'expert' and 'lay' knowledge sources is often complex and synergistic.

  5. Pregnancy Loss Following Amniocentesis or CVS Sampling—Time for a Reassessment of Risk

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    Caroline Ogilvie

    2014-07-01

    Full Text Available Risk of procedure-related pregnancy loss is currently widely quoted in the UK as 1% for amniocentesis and 1.5% for chorionic villus sampling. Published data suggest that these risk figures are out of date and inaccurate, and that new guidelines are required for pre-test counseling. It is our opinion that accurate and evidence-based information concerning miscarriage risk is vital when counseling women, as exaggeration of this risk may deter women from testing, or cause unjustified remorse if a miscarriage ensues. It is also essential that health-care economists are aware of the up-to-date evidence on “procedure-related risk” when applying risk-benefit analysis to assess new technology for non-invasive screening.

  6. Pregnancy Loss Following Amniocentesis or CVS Sampling—Time for a Reassessment of Risk

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    Ogilvie, Caroline; Akolekar, Ranjit

    2014-01-01

    Risk of procedure-related pregnancy loss is currently widely quoted in the UK as 1% for amniocentesis and 1.5% for chorionic villus sampling. Published data suggest that these risk figures are out of date and inaccurate, and that new guidelines are required for pre-test counseling. It is our opinion that accurate and evidence-based information concerning miscarriage risk is vital when counseling women, as exaggeration of this risk may deter women from testing, or cause unjustified remorse if a miscarriage ensues. It is also essential that health-care economists are aware of the up-to-date evidence on “procedure-related risk” when applying risk-benefit analysis to assess new technology for non-invasive screening. PMID:26237475

  7. Pregnancy Loss Following Amniocentesis or CVS Sampling-Time for a Reassessment of Risk.

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    Ogilvie, Caroline; Akolekar, Ranjit

    2014-07-08

    Risk of procedure-related pregnancy loss is currently widely quoted in the UK as 1% for amniocentesis and 1.5% for chorionic villus sampling. Published data suggest that these risk figures are out of date and inaccurate, and that new guidelines are required for pre-test counseling. It is our opinion that accurate and evidence-based information concerning miscarriage risk is vital when counseling women, as exaggeration of this risk may deter women from testing, or cause unjustified remorse if a miscarriage ensues. It is also essential that health-care economists are aware of the up-to-date evidence on "procedure-related risk" when applying risk-benefit analysis to assess new technology for non-invasive screening.

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

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    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.

  9. Amniocentesis in the HIV-Infected Pregnant Woman: Is There Still Cause for Concern in the Era of Combination Antiretroviral Therapy?

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    Nisha Andany

    2013-01-01

    Full Text Available The current standard of care in Canadian obstetrical practice is to offer pregnant women the opportunity for prenatal investigation to diagnose congenital abnormalities. Prenatal amniocentesis is Canada’s most commonly practiced invasive procedure for the diagnosis of chromosomal and single gene disorders. The potential risk of intrapartum HIV transmission during amniocentesis raises several ethical concerns and limits the availability of prenatal genetic testing for HIV-positive pregnant women. Complete virological suppression with antiretroviral therapy may alleviate the risk of mother-to-child transmission during amniocentesis and increase accessibility of this important diagnostic tool in the HIV-positive population. The present report describes a case involving a 32-year-old HIV-positive pregnant woman whose plasma viral load was undetectable on antiretroviral therapy; she underwent successful prenatal amniocentesis without transmission of HIV to her infant.

  10. Justifiability of amniocentesis on the basis of positive findings of triple test, ultrasound scan and advanced maternal age

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    Dragoslav Bukvic

    2011-05-01

    Full Text Available Objective. To assess the effectiveness of antenatal screening for chromosomal abnormalities based on maternal age (≥35 years, positive ultrasound findings or a positive triple test. Materials and methods. Retrospective six-year study. The pregnant women routinely underwent established clinical and laboratory practice at the Department of Medical Genetics between 1997 and 2003. The women’s case notes were examined to identify indications for karyotyping, gestation period and the outcome of karyotyping and pregnancy. Results. Invasive antenatal tests were performed on 1440 cases, 1168 (81.11% age 35(a, 72 (5.00% positive triple test (b, 24 (1.67% positive ultrasound scanning (c and 176 (12.2% other (psychological, personal reasons, etc (d. The overall positive predictive value was 1.67% (1.6%(a, 1.4% (b, 12.5% (c, 0.0% (d. The constructed model of logistic regression gave an odds-ratio of 8.647 for the “positive ultrasound result vs. maternal age ≥35” indication, while the odds-ratio for the triple test vs. maternal age ≥35 was 0.854. Conclusions. Amniocentesis and cytogenetic analysis of foetal karyotype should be presented as a diagnostic possibility to all women over 35 years. The application of biochemical markers was far from the expected results. If we compare results for indication positive ultrasound scanning vs. maternal age, an oddsratio of ~9 was obtained. These results demonstrate that the likelihood of obtaining positive results (i.e. the presence of chromosome alterations from an amniocentesis having this indication is almost 9 times higher than from having an amniocentesis performed solely for advanced maternal age.

  11. Detection of no isochromosome 20q by interphase fluorescent in situ hybridization on uncultured amniocytes in a pregnancy with mosaic isochromosome 20q in cultured amniocytes at amniocentesis

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    Chih-Ping Chen

    2015-02-01

    Conclusion: Mosaic isochromosome 20q detected at amniocentesis can be a cell culture artifact. Detailed ultrasound examination, performing interphase FISH and/or aCGH on uncultured amniocytes for confirmation of true mosaicism, and performing QF-PCR to exclude UPD 20 may be useful under such a circumstance.

  12. Trisomy 7 mosaicism at amniocentesis: Interphase FISH, QF-PCR, and aCGH analyses on uncultured amniocytes for rapid distinguishing of true mosaicism from pseudomosaicism

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    Chih-Ping Chen

    2012-03-01

    Conclusion: Interphase FISH, QF-PCR, and aCGH analyses on uncultured amniocytes are useful for rapid distinguishing of true mosaicism from pseudomosaicism for trisomy 7 at amniocentesis. Cord blood sampling for confirmation of fetal trisomy 7 mosaicism is not practical.

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

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

    2015-12-02

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

  14. Cytogenetic confirmation of a positive NIPT result: evidence-based choice between chorionic villus sampling and amniocentesis depending on chromosome aberration.

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    Van Opstal, Diane; Srebniak, Malgorzata I

    2016-01-01

    It has been shown that in non-invasive prenatal testing (NIPT) there is a small chance of a false-positive or false-negative result. This is partly due to the fact that the fetal cell-free DNA present in maternal plasma is derived from the cytotrophoblast of chorionic villi (CV), which is not always representative for the fetal karyotype due to chromosomal mosaicism. Therefore, a positive NIPT result should always be confirmed with invasive testing, preferably amniocentesis, in order to investigate the fetal karyotype. However, since this invasive test can only be safely performed after 15.5 weeks of gestation while NIPT can be done from the 10(th) week of gestation, this potentially means an unacceptable long waiting time for the prospective parents to receive a definitive result. Based on our experience with cytogenetic investigations in CV and the literature, we determined whether CV sampling may be appropriate for confirmation of an abnormal NIPT result.

  15. Diagnóstico prenatal citogenético mediante amniocentesis durante los trimestres II y III de gestación en Costa Rica

    Directory of Open Access Journals (Sweden)

    Isabel Castro Volio

    2001-12-01

    Full Text Available El objetivo de este estudio fue identificar cromosomopatía fetal en voluntarias con embarazos de alto riesgo genético, brindar adecuada atención obstétrica y pediátrica y asesoramiento genético. En 842 embarazadas se obtuvo células fetales mediante amniocentesis, realizadas desde 1986 hasta 1999 inclusive. Las punciones se realizaron en hospitales del sistema de seguridad social y en la consulta privada. La indicación del 48 % de las amniocentesis fue el examen ultrasonográfico anormal y el 35 % de las punciones fue por edad materna avanzada. El 66 % de las veces el estudio se realizó en el II trimestre del embarazo y el 34 % en el III trimestre. Se utilizó el sistema cerrado de histocultivo y la cosecha por suspensión. El resultado final se obtuvo en 14 días (mediana. De las 842 muestras de líquido amniótico, en 217 no fue posible obtener resultados. Los 625 cariotipos fetales fueron anormales en 55 casos (9 %: 33 cariotipos trisómicos (incluyendo una trisomía 13 por translocación Robertsoniana de los cromosomas 13 y 14, ocho casos con síndrome de Turner (45,X, tres mosaicos cromosómicos (incluyendo una trisomía 22 en mosaico y 11 cariotipos anormales por otras causas. Al comparar la cantidad de defectos cromosómicos en relación a la indicación para efectuar la amniocentesis, se encontró un 17 % de cromosomopatía en los casos estudiados por ultrasonograma anormal y 2.5 % en los casos investigados por razón de la edad materna. En el seguimiento de 211 casos se encontró concordancia entre el cariotipo y el fenotipo del recién nacido, al igual que entre el diagnóstico ultrasonográfico fetal y la condición del neonato. El diagnóstico prenatal de cromosomopatía permitió el asesoramiento genético y el manejo obstétrico y pediátrico de los casos de manera adecuada. En los embarazos con cariotipo normal, esta información alivió la preocupación de muchos de los padresThe identification of fetal abnormal

  16. Rates of 47, + 13 amd 46 translocation D/13 Patau syndrome in live births and comparison with rates in fetal deaths and at amniocentesis.

    Science.gov (United States)

    Hook, E B

    1980-11-01

    Trisomy 13 (Patau syndrome) is rare in newborns. Data on rates in 167,774 live births from 17 separate studies are reviewed, and the following pooled rates found for: (1) 47,trisomy 13, 8.3 X 10(-5) (1/12,000); and (2) 46, (D/13 Robertsonian translocations), 4.2 X 10(-5) (1/24,000)--mutants, 1.2 X 10(-5) (1/80,000) to 1.8 X 10(-5) (1/56,000); and familial cases, 2.4 X 10(-5) (1/42,000) to 3.0 X 10(-5) (1/33,000). The rate of trisomy 13 (47, + 13) in liveborns (ignoring possible biases in studies and heterogeneity in rates) is, with 95% confidence, between 4.6 X 10(-5) (1/21,700) and 14.0 X 10(-5) (1/7,000), with the most likely figure close to 8 X 10(-5) (1/12,000). Numbers are insufficient to construct a comparably narrow confidence interval for translocation cases. The rates of 47, + 13 may be estimated in (1) spontaneous abortuses, about 0.8%--1.0% (100-fold greater than in liveborns); (2) early neonatal deaths, about 0.4% (50-fold greater than in liveborns); and (3) amniocentesis, higher than in liveborns, at least for mothers 40 years and over.

  17. Unbiased ascertainment of a patient with a 47,XY, +pseudic (15)t(15;15)(q13;q13) karyotype by amniocentesis

    Energy Technology Data Exchange (ETDEWEB)

    Spector, E.; Prochazka, G.; Hamilton, S. [Univ. of Colorado School of Medicine, Denver (United States)] [and others

    1994-09-01

    A 47,XY,+mar male karyotype was found in all metaphases on an amniocentesis from a 36-year-old woman (G1,P0). The marker was G group size. Chromosome studies on the parents were normal. C-banding, NOR staining and FISH demonstrated that the marker was dicentric, bisatellited, derived from No. 15 and contained 2 copies of the chromosomal region flanked by the Prader-Willi/Angelman A and B probes. The final karyotype was: 47,XY,+pseudic(15)t(15;15)(q13;q13), making the fetus tetrasomic for the genes in the duplicated region. DNA marker studies for No. 15 (performed in the laboratory of Dr. David Ledbetter) revealed that the fetus had inherited on No. 15 from each parent and that the marker was derived from both maternal No. 15 chromosomes. The parents chose to continue the pregnancy. The baby was born at 38 weeks gestation, was mildly edematous and had Apgar scores of 4, 7, and 8 at 1, 5, and 10 min, respectively. The marker was confirmed to be present in placenta and the baby`s blood. Examination at 6 weeks showed appropriate growth and development. Data from published cases predict that this baby will be mentally retarded and may have seizures because he is tetrasomic for 15pter-q13, but will not have Prader-Willi or Angelman syndromes since he has biparental inheritance of his normal No. 15s. However, the published cases may represent a biased sample as most were identified in mentally retarded individuals, not by prenatal diagnosis. This infant`s development will continue to be followed closely.

  18. Mosaic Trisomy 9 at Amniocentesis: Prenatal Diagnosis and Molecular Genetic Analyses

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2010-09-01

    Conclusion: Mosaic trisomy 9 carries a high risk of fetal abnormalities warranting detailed sonographic investigation of congenital malformations. Mosaic trisomy 9 can be associated with maternal uniparental disomy for chromosome 9 in euploid cell lines. Array comparative genomic hybridization is limited for the detection of low-level mosaicism.

  19. Fetoplacental cytogenetic discrepancy in a pregnancy with fetal mosaic tetrasomy 12p and Pallister–Killian syndrome detected by amniocentesis

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2017-12-01

    Conclusion: Pregnancy with fetal PKS and mosaic tetrasomy 12p may present fetoplacental cytogenetic discrepancy. Therefore, genetic analysis on placenta alone may fail to detect fetal mosaic tetrasomy 12p associated with PKS.

  20. Economic analysis of chromosome testing in couples with recurrent miscarriage to prevent handicapped offspring.

    NARCIS (Netherlands)

    Leeuwen, M. van; Vansenne, F.; Korevaar, J.C.; Veen, F. van der; Goddijn, M.; Mol, B.W.J.

    2013-01-01

    Study Question: Which strategy is least expensive to prevent the birth of a handicapped child in couples with recurrent miscarriage (RM); parental chromosome analysis followed by amniocentesis in case of carrier status of one of the parents, or amniocentesis in all ongoing pregnancies without the

  1. Prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3 encompassing DTNA, CELF4 and SETBP1

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2017-12-01

    Conclusion: aCGH analysis and polymorphic DNA marker analysis at amniocentesis are useful for determination of the deleted genes and the parental origin of the de novo deletion, and the acquired information is helpful for genetic counseling.

  2. Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2017-06-01

    Conclusion: Simultaneous aCGH analysis on uncultured amniotic fluid in addition to conventional cytogenetics at amniocentesis is practical and may help in detecting unknown familial inheritance of subtle X chromosome aberrations.

  3. Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells

    Directory of Open Access Journals (Sweden)

    Meng-Che Tsai

    2014-12-01

    Conclusion: Conventional karyotyping through amniocentesis has limitations particularly in detecting rare trisomy mosaicism if trisomic cells show growth disadvantage. Array-CGH using uncultured cells may be of help in providing more information on genetic dosage variations in such cases.

  4. Evaluation of The Products of Ambulatory Care and Products of Ambulatory Surgery Classification System For the Military Health Care System.

    Science.gov (United States)

    1992-09-14

    Care 54500 54505 Biopsy, Testis (Open) 58340 74741 Hysterosalpingogram 58993 89300 Post Coital Test 59001 59000 Amniocentesis, Genetic 59002 59000...Degeneration 3716 37160 Keratoconus 3720 37200 Conjunctivitis, Acute 3721 37210 Conjunctivitis, Chronic 3722 37220 Blepharoconjuctivitis 3724 37240

  5. CK (Creatine Kinase) Test

    Science.gov (United States)

    ... Blood Testing Alpha-1 Antitrypsin Alpha-fetoprotein (AFP) Tumor Marker AMAS Aminoglycoside Antibiotics Ammonia Amniocentesis Amylase ANCA/MPO/ ... Beta-2 Microglobulin Kidney Disease Beta-2 Microglobulin Tumor Marker Bicarbonate (Total CO2) Bilirubin Blood Culture Blood Gases ...

  6. Myasthenia Gravis Tests

    Science.gov (United States)

    ... Blood Testing Alpha-1 Antitrypsin Alpha-fetoprotein (AFP) Tumor Marker AMAS Aminoglycoside Antibiotics Ammonia Amniocentesis Amylase ANCA/MPO/ ... Beta-2 Microglobulin Kidney Disease Beta-2 Microglobulin Tumor Marker Bicarbonate (Total CO2) Bilirubin Blood Culture Blood Gases ...

  7. HIV Genotypic Resistance Testing

    Science.gov (United States)

    ... Blood Testing Alpha-1 Antitrypsin Alpha-fetoprotein (AFP) Tumor Marker AMAS Aminoglycoside Antibiotics Ammonia Amniocentesis Amylase ANCA/MPO/ ... Beta-2 Microglobulin Kidney Disease Beta-2 Microglobulin Tumor Marker Bicarbonate (Total CO2) Bilirubin Blood Culture Blood Gases ...

  8. With Home Testing, Consumers Take Charge of Their Health

    Science.gov (United States)

    ... Blood Testing Alpha-1 Antitrypsin Alpha-fetoprotein (AFP) Tumor Marker AMAS Aminoglycoside Antibiotics Ammonia Amniocentesis Amylase ANCA/MPO/ ... Beta-2 Microglobulin Kidney Disease Beta-2 Microglobulin Tumor Marker Bicarbonate (Total CO2) Bilirubin Blood Culture Blood Gases ...

  9. Liver Panel

    Science.gov (United States)

    ... Blood Testing Alpha-1 Antitrypsin Alpha-fetoprotein (AFP) Tumor Marker AMAS Aminoglycoside Antibiotics Ammonia Amniocentesis Amylase ANCA/MPO/ ... Beta-2 Microglobulin Kidney Disease Beta-2 Microglobulin Tumor Marker Bicarbonate (Total CO2) Bilirubin Blood Culture Blood Gases ...

  10. Mono Test

    Science.gov (United States)

    ... Blood Testing Alpha-1 Antitrypsin Alpha-fetoprotein (AFP) Tumor Marker AMAS Aminoglycoside Antibiotics Ammonia Amniocentesis Amylase ANCA/MPO/ ... Beta-2 Microglobulin Kidney Disease Beta-2 Microglobulin Tumor Marker Bicarbonate (Total CO2) Bilirubin Blood Culture Blood Gases ...

  11. Pleural Fluid Analysis Test

    Science.gov (United States)

    ... Blood Testing Alpha-1 Antitrypsin Alpha-fetoprotein (AFP) Tumor Marker AMAS Aminoglycoside Antibiotics Ammonia Amniocentesis Amylase ANCA/MPO/ ... Beta-2 Microglobulin Kidney Disease Beta-2 Microglobulin Tumor Marker Bicarbonate (Total CO2) Bilirubin Blood Culture Blood Gases ...

  12. Coagulation Factors Test

    Science.gov (United States)

    ... Blood Testing Alpha-1 Antitrypsin Alpha-fetoprotein (AFP) Tumor Marker AMAS Aminoglycoside Antibiotics Ammonia Amniocentesis Amylase ANCA/MPO/ ... Beta-2 Microglobulin Kidney Disease Beta-2 Microglobulin Tumor Marker Bicarbonate (Total CO2) Bilirubin Blood Culture Blood Gases ...

  13. Transabdominal chorion villus biopsi ved abnormt ultralydfund i 2. trimester

    DEFF Research Database (Denmark)

    Hertz, Jens Michael; Jensen, P K; Henriques, U

    1990-01-01

    If oligohydramnios, growth retardation or foetal malformations are demonstrated by ultrasonic scanning in the second or third trimesters, this implies that the risk of chromosome anomalies is significantly increased. In cases such as these, determination of the foetal karyotype may therefore...... be indicated. Until recently, amniocentesis has been employed for this but the results of the chromosome investigation are not available until two to three weeks after the intervention. The delay between amniocentesis and the result of chromosome investigation imposes a mental strain on the pregnant woman...... oligohydramnios, growth retardation or foetal malformations have been demonstrated by ultrasonic scanning, in cases where referral for antenatal diagnosis is very late and when chromosome investigation after amniocentesis proves unsuccessful and repeated amniocentesis would result in an unacceptably late result....

  14. A case of triploidy detected by crosstrimester test

    OpenAIRE

    Guanciali-Franchi, Paolo; Iezzi, Irene; Matarrelli, Barbara; Morizio, Elisena; Calabrese, Giuseppe; Palka, Giandomenico

    2012-01-01

    A 40-year-old woman presented in her second pregnancy, naturally conceived. Maternal serum screening and ultrasound examination raised concerns regarding aneuploidy. After genetic counselling an amniocentesis was performed, showing a 69,XXX karyotype.

  15. Late first-trimester invasive prenatal diagnosis: results of an international randomized trial.

    Science.gov (United States)

    Philip, J; Silver, R K; Wilson, R D; Thom, E A; Zachary, J M; Mohide, P; Mahoney, M J; Simpson, J L; Platt, L D; Pergament, E; Hershey, D; Filkins, K; Johnson, A; Shulman, L P; Bang, J; MacGregor, S; Smith, J R; Shaw, D; Wapner, R J; Jackson, L G

    2004-06-01

    To assess, in a randomized trial, the safety and accuracy of amniocentesis and transabdominal chorionic villus sampling (CVS) performed at 11-14 weeks of gestation, given that this time frame is increasingly relevant to early trisomy screening. We compared amniocentesis with CVS from 77 to 104 days of gestation in a randomized trial in a predominantly advanced maternal age population. Before randomization, the feasibility of both procedures was confirmed by ultrasonography, and experienced operators performed sampling under ultrasound guidance; conventional cytogenetic analysis was employed. The primary outcome measure was a composite of fetal loss plus preterm delivery before 28 weeks of gestation in cytogenetically normal pregnancies. We randomized 3,775 women into 2 groups (1,914 to CVS; 1,861 to amniocentesis), which were comparable at baseline. More than 99.6% had the assigned procedure, and 99.9% were followed through delivery. In contrast to previous thinking, in the cytogenetically normal cohort (n = 3,698), no difference in primary study outcome was observed: 2.1% (95% confidence interval 1.5, 2.8) for CVS and 2.3% (95% confidence interval, 1.7, 3.1) for amniocentesis. However, spontaneous losses before 20 weeks and procedure-related, indicated terminations combined were increased in the amniocentesis group (P =.07, relative risk 1.74). We found a 4-fold increase in the rate of talipes equinovarus after amniocentesis (P =.02) overall and in week 13 (P =.03, relative risk = 4.65), but data were insufficient to determine this risk in week 14. Amniocentesis at 13 weeks carries a significantly increased risk of talipes equinovarus compared with CVS and also suggests an increase in early, unintended pregnancy loss. I

  16. Second-trimester amniotic fluid corticotropin-releasing hormone and urocortin in relation to maternal stress and fetal growth in human pregnancy.

    Science.gov (United States)

    La Marca-Ghaemmaghami, Pearl; Dainese, Sara M; Stalla, Günter; Haller, Marina; Zimmermann, Roland; Ehlert, Ulrike

    2017-05-01

    This study explored the association between the acute psychobiological stress response, chronic social overload and amniotic fluid corticotropin-releasing hormone (CRH) and urocortin (UCN) in 34 healthy, second-trimester pregnant women undergoing amniocentesis. The study further examined the predictive value of second-trimester amniotic fluid CRH and UCN for fetal growth and neonatal birth outcome. The amniocentesis served as a naturalistic stressor, during which maternal state anxiety and salivary cortisol was measured repeatedly and an aliquot of amniotic fluid was collected. The pregnant women additionally completed a questionnaire on chronic social overload. Fetal growth parameters were obtained at amniocentesis using fetal ultrasound biometry and at birth from medical records. The statistical analyzes revealed that the acute maternal psychobiological stress response was unassociated with the amniotic fluid peptides, but that maternal chronic overload and amniotic CRH were positively correlated. Moreover, amniotic CRH was negatively associated with fetal size at amniocentesis and positively with growth in size from amniocentesis to birth. Hardly any studies have previously explored whether acute maternal psychological stress influences fetoplacental CRH or UCN levels significantly. Our findings suggest that (i) chronic, but not acute maternal stress may affect fetoplacental CRH secretion and that (ii) CRH is complexly involved in fetal growth processes as previously shown in animals.

  17. Incidence of fetal chromosome abnormalities in insulin dependent diabetic women

    DEFF Research Database (Denmark)

    Henriques, C U; Damm, P; Tabor, A

    1991-01-01

    In order to screen for fetal neural tube defects and chromosome abnormalities, amniocentesis was carried out in 334 women with insulin-dependent diabetes mellitus (IDDM) between 1979 and 1987. Two cases (0.6%; 95% confidence limits 0.1-2.2%) of fetal chromosome abnormality were found: one case...... of Klinefelter's syndrome and one case of de novo translocation. This is comparable to the overall incidence of chromosome abnormality found at birth and is also comparable to the incidence of fetal chromosome abnormality (1.0%) found by amniocentesis at our Department in a group of 2,264 young non......-diabetic women with little risk of contracting genetic disorders. The results suggest that maternal IDDM does not increase the risk of fetal chromosome abnormality and consequently screening by amniocentesis for chromosome abnormalities among diabetic women does not seem to be indicated....

  18. Risk of infertility following fetography and amniofetography

    International Nuclear Information System (INIS)

    Weise, W.; Quent, P.

    1979-01-01

    297 women were subjected to prenatal diagnosis, in 220 of them amniocentesis was performed to start an amnion cell culture and 77 women (26%) were diagnosed by fetography and amniofetography, respectively. Following intra-amniotic injection of contrast medium abortion occured in 9% and premature delivery in 28.6% of the probands. The perinatal mortality was 13%. After amniocentesis the abortion rate was 3.2% and premature delivery took place in 4.5% of the patients. The perinatal mortality was but slightly increased (2.3%). The differences were statistically secured. Following fetography and amniofetography prophylactic cerclage is recommended

  19. Incidence of fetal chromosome abnormalities in insulin dependent diabetic women

    DEFF Research Database (Denmark)

    Henriques, C U; Damm, P; Tabor, A

    1991-01-01

    In order to screen for fetal neural tube defects and chromosome abnormalities, amniocentesis was carried out in 334 women with insulin-dependent diabetes mellitus (IDDM) between 1979 and 1987. Two cases (0.6%; 95% confidence limits 0.1-2.2%) of fetal chromosome abnormality were found: one case...... of Klinefelter's syndrome and one case of de novo translocation. This is comparable to the overall incidence of chromosome abnormality found at birth and is also comparable to the incidence of fetal chromosome abnormality (1.0%) found by amniocentesis at our Department in a group of 2,264 young non...

  20. Invasive prenatal diagnostic practice in Denmark 1996 to 2006

    DEFF Research Database (Denmark)

    Vestergaard, Christina H F; Lidegaard, Øjvind; Tabor, Ann

    2009-01-01

    The Danish National Board of Health recommended in 2004 routine ultrasound scanning in week 12 with nuchal translucency measurement, combined with the double test to all pregnant women. Those who were found to have a risk of trisomy 21 higher than 1:300 were offered amniocentesis or chorionic...... to 52%. The mean gestational age at which the procedures were done increased--for CVS from week 11 to 13, and for amniocentesis from week 16 to 17. We thus achieved to more than double the offer of prenatal screening and at the same time reduce the number of invasive procedures by 55%....

  1. tropical OCTOBER

    African Journals Online (AJOL)

    SaundersNJ, Snidjers RJ, Nicolaides KH. Therapeutic. Amniocentesis in TTTS appearing in Second Trimester of. Pregnancy.Am J Obstet Gynaecol, 1992; 166: 820-824. 5. Lepriore E, Vanderbussche FP, Tiersma ES. Twin-to-twin. Transfusion Syndrome, New Perspectives. J Paediatr, 1995;. 127(5): 675-680. 6. Bernischke ...

  2. Prenatal genotyping of Gaucher disease in Egypt | Elgawhary ...

    African Journals Online (AJOL)

    Objective: To use chorionic villi sampling (CVS) and amniocentesis to determine the genotyping of Gaucher Disease (GD) of fetuses of pregnant mothers who had a previous child affected by GD. Methods: The study was conducted between January 2009 and December 2012. It included 42 pregnant women that gave ...

  3. Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases

    DEFF Research Database (Denmark)

    Bugge, Merete; deLozier-Blanchet, Celia; Bak, Mads

    2005-01-01

    liveborn children with clinical features characteristic of Patau's syndrome and three fetuses diagnosed prenatally by amniocentesis or CVS. Five cases were isochromosomes with two identical q arms, one of maternal and four of paternal origin. Only one case was a Robertsonian translocation of maternal...

  4. ORIGINAL ARTICLE Prenatal diagnosis of aneuploidy among a ...

    African Journals Online (AJOL)

    salah

    trimester ultrasound assessment, early amniocentesis for conventional karyo- type analysis of cultured amniocytes and interphase FISH studies of uncul- tured amniocytes. is referred to as trisomy and tetrasomy, respectively.1. A number of studies have shown that aneuploidies of only 5 chromosomes. (13, 18, 21, X and Y) ...

  5. Biology and the Future of Man.

    Science.gov (United States)

    Canipe, Stephen L.

    The purpose of this unit is to provoke discussion and thought by the reader. Topics considered include cloning; amniocentesis and sex determination; predicting abnormalities and abortion; transplants; life prolonging machines; cryogenics; prenatal surgery; sperm and egg banks; radiation; psychobehavior, ESB (electrical stimulation of the brain),…

  6. Prenatal diagnosis of cri du chat syndrome with encephalocele.

    Science.gov (United States)

    Bakkum, Jamie N; Watson, William J; Johansen, Keith L; Brost, Brian C

    2005-10-01

    A 19-year-old primigravida was found to have an encephalocele on screening ultrasound study. Amniocentesis indicated cri du chat syndrome, 5p-. Although cri du chat syndrome has been noted in association with central nervous system malformations, encephalocele is a rare finding in this syndrome.

  7. Parental-age effects in Down syndrome

    Indian Academy of Sciences (India)

    have a complete trisomy 21 and the remaining 5% either have ... Prenatal testing for. Down syndrome is performed by chorionic villus sampling. (in first trimester), amniocentesis (in second trimester), bio- chemical analysis (Quad screen for maternal serum mark- ..... nosis of mental retardation disorders, in the present day,.

  8. What If I Don't Want to Play God?

    Science.gov (United States)

    Dobrin, Kelly Hykes; Yarnall, Gary Dean

    The authors review technological advances in medicine, such as gene manipulation, amniocentesis, ultra sound, organ transplants, and cloning, and point out ethical and moral dilemmas resulting from such capabilities. Implications of overpopulation are briefly considered. The authors contend that the decision "to play God" has already been made,…

  9. Robertsonian translocations: An overview of a 30-year experience in a single tertiary medical center in Taiwan

    Directory of Open Access Journals (Sweden)

    Yi-Wen Chang

    2013-06-01

    Conclusion: Although AMA is an indication for amniocentesis in approximately two-fifths of cases with Robertsonian translocations, the indication of parent with abnormal karyotypes was more likely to lead to the detection of non-de novo Robertsonian translocations, suggesting that parents with abnormal karyotypes need careful prenatal consultation.

  10. Fetal chromosome abnormalities and congenital malformations: an ...

    African Journals Online (AJOL)

    Objective: Our objective were to determine and evaluate the role of genetic counseling and amniocentesis in early detection of chromosomal abnormalities or congenital malformations among women at risk. Patients and Methods: The study was performed on 784 pregnant women. Results: The cause for seeking genetic ...

  11. Perinatal management of spina bifida | Padayachy | South African ...

    African Journals Online (AJOL)

    The management of patients with myelomeningocele is largely dependent on the timing of the diagnosis, i.e. ante- or postnatally. Antenatal diagnosis can be made using a combination of maternal serum alpha-fetoprotein measurement, fetal ultrasonography and, where necessary, amniocentesis.

  12. Down's syndrome in South Africa - incidence, maternal age and ...

    African Journals Online (AJOL)

    Down's syndrome (DS) is the most common chromosomal cause of mental retardation, and amniocentesis is the most significant factor affecting its prevalence. In South Africa, prenatal cytogenetic diagnoses have been available for just over a decade and the utilisation and effect of this procedure in the white population ...

  13. Risk of fetal loss associated with invasive testing following combined first-trimester screening for Down syndrome

    DEFF Research Database (Denmark)

    Wulff, C. B.; Gerds, T. A.; Rode, L

    2016-01-01

    OBJECTIVE: To assess prospectively the risk of fetal loss associated with chorionic villus sampling (CVS) and amniocentesis (AC) following combined first-trimester screening (cFTS) for Down syndrome. METHODS: This was a nationwide population-based study (Danish Fetal Medicine Database, 2008...

  14. How Children Grow.

    Science.gov (United States)

    National Institutes of Health (DHEW), Bethesda, MD.

    The discussion of genetic and environmental factors in the growth of children from infancy to adolescence focuses on intrauterine life, the effects of nutrition, hormones, illness, and emotion in the childhood years, and obesity and puberty in adolescents. Described are processes, such as amniocentesis, for monitoring the physiology chemistry of…

  15. Should the indications for prenatal chromosome analysis be changed?

    DEFF Research Database (Denmark)

    Philip, J; Bang, J; Madsen, Mette

    1977-01-01

    Amniocentesis for chromosome analysis was performed in 1086 pergnant women, 739 of whom had an increased risk of giving birth to a child with chromosome abnormalities. Such abnormalities were found in almost identical proportions among the fetuses with an increased risk (1.2%) and among those...

  16. Evaluation of the Results of Cordocentesis

    Directory of Open Access Journals (Sweden)

    Ali Acar

    2007-12-01

    Conclusion: If cordocentesis is carried out by highly skilled physicians and optimal culture conditions are available, cordocentesis is an invasive prenatal diagnostic and therapeutic procedure that is performed secondary to amniocentesis with high accuracy and safety. In cases of hydrops fetalis in which cordocentesis is carried out, fetal loss is more likely to occur.

  17. Fetal chromosome analysis: screening for chromosome disease?

    DEFF Research Database (Denmark)

    Philip, J; Tabor, Ann; Bang, J

    1983-01-01

    with women without elevated risk. Spontaneous abortion rate and prematurity rate did not differ from rates expected without amniocentesis. It is concluded that current indications may be characterized as a mixture of evident high risk factors and factors with only a minor influence on risk. Indications......The aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocentesis performed, this group constituting a consecutive sample at the chromosome laboratory, Rigshospitalet, Copenhagen from March 1973 to September 1980 (Group...... A + B). Pregnant women 35 years of age, women who previously had a chromosomally abnormal child, families with translocation carriers or other heritable chromosomal disease, families where the father was 50 years or more and women in families with a history of Down's syndrome (group A), were compared...

  18. The value of amniofetography following ultrasound diagnosis

    International Nuclear Information System (INIS)

    Toth, Zoltan; Vachter, Janos; Csecsei, Karoly; Papp, Zoltan

    1984-01-01

    In the course of amniocentesis, the contrast agent injected into the gestational sac disperses evenly in the amniotic fluid. The fat-soluble contrast agent binds to the exterior of the fetus, while the water-soluble one enters the gastrointestinal tract by swallowing. Thus, by means of amniofetography, numerous fetal anomalies can be detected prenatally. Authors describe the technique of the method, its field of indication, and their own experiences in 13 cases. Successful diagnoses were established such as cervical hygrom, myelomeningocele, thanatophor dysplasia, hydrocephalia, anencephalia, iniencephalia, encephalocele, hydrops, omphalocele, oesophageal and intestinal atresia. Amniofetography is indicated when fetal developmental anomaly is suspected, and its type and grade of seriousness, respectively, can not be assessed by means of echography and/or amniocentesis. (author)

  19. Value of amniofetography following ultrasound diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Toth, Z.; Vachter, J.; Csecsei, K.; Papp, Z. (Orvostudomanyi Egyetem, Debrecen (Hungary). Radiologiai Klinika)

    1984-08-01

    In the course of amniocentesis, the contrast agent injected into the gestational sac disperses evenly in the amniotic fluid. The fat-soluble contrast agent binds to the exterior of the fetus, while the water-soluble one enters the gastrointestinal tract by swallowing. Thus, by means of amniofetography, numerous fetal anomalies can be detected prenatally. Authors describe the technique of the method, its field of indication, and their own experiences in 13 cases. Successful diagnoses were established such as cervical hygrom, myelomeningocele, thanatophor dysplasia, hydrocephalia, anencephalia, iniencephalia, encephalocele, hydrops, omphalocele, oesophageal and intestinal atresia. Amniofetography is indicated when fetal developmental anomaly is suspected, and its type and grade of seriousness, respectively, can not be assessed by means of echography and/or amniocentesis.

  20. Six consecutive false positive cases from cell-free fetal DNA testing in a single referring centre

    Science.gov (United States)

    Dugo, Nella; Padula, Francesco; Mobili, Luisa; Brizzi, Cristiana; D’Emidio, Laura; Cignini, Pietro; Mesoraca, Alvaro; Bizzoco, Domenico; Cima, Antonella; Giorlandino, Claudio

    2014-01-01

    Introduction recent studies have proposed the introduction of cell-free fetal DNA testing (NIPT-Non Invasive Prenatal Testing) in routine clinical practice emphasizing its high sensibility and specificity. In any case, false positive and false negative findings may result from placental mosaicism, because cell-free fetal DNA originates mainly from placenta. Case we report six cases of women who underwent chorionic villus sampling (CVS) or amniocentesis to confirm the results from NIPT: two Turner syndromes, two Triple X, one Patau syndrome, one Edward syndrome. Results using classic cytogenetic analysis and, also, Array - Comparative Genomic Hybridization (Array CGH) the karyotype of all 5 fetuses was found to be normal. Conclusion results from NIPT must always be confirmed by invasive prenatal diagnosis. It is mandatory to inform the patient that the CVS and amniocentesis still represent the only form of prenatal diagnostic test available. PMID:25332757

  1. Indications for invasive prenatal diagnostic procedures at a dedicated fetal medicine centre: an 8 year audit 2003-2010.

    Science.gov (United States)

    Valayatham, Vijayan; Subramaniam, Raman; Juan, Yap Moy; Chia, Patrick

    2013-08-01

    Analyze indications and type of prenatal diagnostic procedures performed. This retrospective audit was conducted at a dedicated fetal medicine center in Petaling Jaya. All invasive prenatal diagnosis procedures performed from 2003 up until 2010 (amniocentesis, chorionic villous sampling and fetal blood sampling) were analyzed. A total of 1560 invasive prenatal diagnostic procedures were performed during the 8 year period. Advanced maternal age is the leading indication for invasive prenatal diagnostic procedures followed by fetal abnormalities. The fetal loss rate was 0.2% for amniocentesis and 1.2% for CVS. Advanced maternal age is the leading indication for invasive prenatal diagnostic procedures at this centre but is on a declining trend. The fetal loss rates are comparable to auditable standards set by professional bodies, in this case, the Royal College of Obstetricians & Gynecologists of London.

  2. Non-Invasive Prenatal Testing

    OpenAIRE

    Ekici, Cemal

    2015-01-01

    The rate of newborns with trisomy 21 (Down syndrome) who have been referred to our pediatric newborn clinic is very high. This shows that prenatal screening in the region is not carried out well. Prenatal diagnosis and screening methods include invasive prenatal diagnosis methods (amniocentesis, chorionic villus sampling (CVS), and cordocentesis) and non-invasive prenatal diagnosis (NIPT) which cell free fetal DNA (cffDNA) screening of maternal blood samples. After the discovery of the signs ...

  3. Non-Invasive Prenatal Testing

    OpenAIRE

    McGillivray, Barbara C.

    1988-01-01

    The rate of newborns with trisomy 21 (Down syndrome) who have been referred to our pediatric newborn clinic is very high. This shows that prenatal screening in the region is not carried out well. Prenatal diagnosis and screening methods include invasive prenatal diagnosis methods (amniocentesis, chorionic villus sampling (CVS), and cordocentesis) and non-invasive prenatal diagnosis (NIPT) which cell free fetal DNA (cffDNA) screening of maternal blood samples. After the discovery of the signs ...

  4. Consumerism in prenatal diagnosis? A local Italian study.

    Science.gov (United States)

    Bellieni, C V; Maffei, M; Brogna, A; Plantulli, A; Cervo, E; Reda, M; Signorini, L; Buonocore, G; Petraglia, F

    2008-01-01

    To assess the causes of excessive use of prenatal diagnosis. 304 questionnaires were completed anonymously by puerperae in a Siena (Italy) hospital in May-August 2006. The questionnaires contained 24 questions about the women, examinations performed during pregnancy and the reasons for them. The mean number of ultrasound examinations per woman was 6.5 +/- 2.5. Forty-two percent of the women in our sample (29.3% of women under 35 and 68.9% of women over 35 years of age) reported that amniocentesis/CVS had been performed; the mean age of these women was 34.1 +/- 4.5 years. Eighty-five percent of the women under 36 years of age who had amniocentesis declared that it was performed as a personal choice and 15% for the presence of risk factors. Among 131 women who performed amniocentesis, 32 performed it with a normal blood screening for Down syndrome (DS), and 76 declared to have performed no blood screening for DS. Only 45% of women stated that they thought age above 35 years was a risk factor for pregnancy, but most of them (75%) were aware that amniocentesis was performed to detect chromosomal anomalies. In 89% of the cases a source of information about prenatal testing was the woman's gynecologist. This study shows that the high use of prenatal examinations is often not justified by the presence of clinical risk factors and that both national health system and caregivers should find new strategies to inform women about the aims of prenatal tests, and promote a more serene approach to pregnancy. A broader study is needed to confirm these data. Copyright 2008 S. Karger AG, Basel.

  5. Prenatal sonography and computed tomography for cerebral malformations of the foetus

    International Nuclear Information System (INIS)

    Brinkmann, G.; Brix, F.; Weisner, D.; Kiel Univ.

    1987-01-01

    In three pregnant women, sonography and amniocentesis suggested cranial abnormalities of the foetuses. In view of the far-reaching consequences of such a diagnosis, CT was carried out to confirm the diagnosis. It was possible to show the intra-uterine abnormalities and the type of malformation in considerable detail. In one case an encephalocele was demonstrated, in the two others, an anencephalic foetus was shown. (orig.) [de

  6. Prenatal sonography and computed tomography for cerebral malformations of the foetus

    Energy Technology Data Exchange (ETDEWEB)

    Brinkmann, G.; Brix, F.; Weisner, D.

    1987-07-01

    In three pregnant women, sonography and amniocentesis suggested cranial abnormalities of the foetuses. In view of the far-reaching consequences of such a diagnosis, CT was carried out to confirm the diagnosis. It was possible to show the intra-uterine abnormalities and the type of malformation in considerable detail. In one case an encephalocele was demonstrated, in the two others, an anencephalic foetus was shown.

  7. The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing

    OpenAIRE

    Rapacchia, Giuseppina; Lapucci, Cristina; Pittalis, Maria Carla; Youssef, Aly; Farina, Antonio

    2015-01-01

    Panorama Plus (Natera), a single-nucleotide polymorphism- (SNP-) based approach that relies on the identification of maternal and fetal allele distributions, allows the detection of common aneuploidies and also incorporates a panel of 5 microdeletions including Di George syndrome. We report here the first case of Di George syndrome detected by NIPT in Italy; blood was drawn at 12 weeks’ gestation. The patient had an amniocentesis to confirm the diagnosis by MLPA (multiplex ligation-dependent ...

  8. Investigation of the diagnostic value of chromosome analysis and bacterial artificial chromosome-based array comparative genomic hybridization in prenatal diagnosis

    OpenAIRE

    SAVLI, HAKAN; KESKİN, SEDA EREN; ÇİNE, NACİ

    2015-01-01

    Background/aim: To investigate the diagnostic value of bacterial artificial chromosome (BAC)-based array comparative genomic hybridization (CGH) and chromosome analysis in prenatal diagnosis. Materials and methods: This study included the chromosome analysis and BAC-based array CGH analysis of 140 amniocentesis samples with prenatal diagnosis indications. Results: Karyotype analysis showed trisomy 21 in 4 patients, trisomy 18 in 5 patients, monosomy X in 1 patient, and other anomalies in 3 ...

  9. Antenatal Bartter syndrome: a rare cause of unexplained severe polyhydramnios.

    Science.gov (United States)

    Bhat, Y R; Vinayaka, G; Vani, R; Prashanth, K A; Sreelakshmi, K

    2011-01-01

    A woman presented with polyhydramnios at 22 weeks of gestation with a structurally normal fetus and placenta. Biochemical analysis of amniotic fluid detected a very high level of chloride (582 mmol/L), which led to the diagnosis of Bartter syndrome. With serial amniocentesis and indomethacin therapy, the pregnancy continued to 36 weeks. Neonatal and subsequent investigations further supported the diagnosis of Bartter syndrome. The infant was well at birth and now, at 5 months of age, is gaining weight normally on indomethacin.

  10. Posterior midline cervical fetal cystic hygroma.

    Directory of Open Access Journals (Sweden)

    Oak S

    1992-04-01

    Full Text Available Posterior midline cervical cystic hygromas (PMC are frequently found associated with chromosomal aberrations and usually do not survive. The present report illustrates diagnosis of this condition by sonography in an 18 weeks old fetus and an amniocentesis revealed 45 x0 karyotype and increased concentration of alpha-fetoproteins. Pregnancy was terminated in view of Turner′s syndrome. The etiology and natural history of the condition is reviewed.

  11. 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.

  12. Fetal chromosome analysis: screening for chromosome disease?

    DEFF Research Database (Denmark)

    Philip, J; Tabor, Ann; Bang, J

    1983-01-01

    with women without elevated risk. Spontaneous abortion rate and prematurity rate did not differ from rates expected without amniocentesis. It is concluded that current indications may be characterized as a mixture of evident high risk factors and factors with only a minor influence on risk. Indications...... who want it, is discussed. Screening for chromosome disease in all pregnancies is not without problems, but may be reasonable in some localities....

  13. A New Model for Providing Cell-Free DNA and Risk Assessment for Chromosome Abnormalities in a Public Hospital Setting

    Directory of Open Access Journals (Sweden)

    Robert Wallerstein

    2014-01-01

    Full Text Available Objective. Cell-free DNA (cfDNA offers highly accurate noninvasive screening for Down syndrome. Incorporating it into routine care is complicated. We present our experience implementing a novel program for cfDNA screening, emphasizing patient education, genetic counseling, and resource management. Study Design. Beginning in January 2013, we initiated a new patient care model in which high-risk patients for aneuploidy received genetic counseling at 12 weeks of gestation. Patients were presented with four pathways for aneuploidy risk assessment and diagnosis: (1 cfDNA; (2 integrated screening; (3 direct-to-invasive testing (chorionic villus sampling or amniocentesis; or (4 no first trimester diagnostic testing/screening. Patients underwent follow-up genetic counseling and detailed ultrasound at 18–20 weeks to review first trimester testing and finalize decision for amniocentesis. Results. Counseling and second trimester detailed ultrasound were provided to 163 women. Most selected cfDNA screening (69% over integrated screening (0.6%, direct-to-invasive testing (14.1%, or no screening (16.6%. Amniocentesis rates decreased following implementation of cfDNA screening (19.0% versus 13.0%, P<0.05. Conclusion. When counseled about screening options, women often chose cfDNA over integrated screening. This program is a model for patient-directed, efficient delivery of a newly available high-level technology in a public health setting. Genetic counseling is an integral part of patient education and determination of plan of care.

  14. [Analysis of nursing students' attitude toward bioethics (3). Attitude toward induced abortion].

    Science.gov (United States)

    Nakayama, O; Ishizaka, K; Mizutani, N

    1986-04-01

    Nursing students were found to be somewhat hesitant and indecisive about induced abortion in general. They are in favor of some cases of abortion but feel that it should be avoided if possible. They agree to abortion in cases of a mother's health being in danger and possible deformity of the child, but are opposed to it for such selfish reasons as parents' sex preference of their child and motherhood's interference with parents' study or career. They are most undecided about abortion because of financial difficulties since each case would be different. Quantitative analysis via computer was made of the results of a questionnaire given to 112 nursing students. The students were encouraged to give their candid opinion in exchange for their complete anonymity. They were asked to respond to the following reasons for having induced abortion by circling agree, somewhat agree, somewhat opposed, or opposed: 1) unexpected pregnancy at financially difficult times, 2) unwanted sex of fetus revealed by amniocentesis, 3) unwanted pregnancy with a possible hereditary disease 4) some disability of the child revealed by the fetal examination, 5) pregnancy due to rape, 6) pregnancy due to wife's adultery, 7) maternal health risk, 8) unwanted pregnancy, 9) teenage pregnancy (junior high age), 10) German measles contracted during the 1st trimester, 11) untimely pregnancy interfering with a woman's career or college studies, and 12) women's freedom of choice. Problems such as 2), 3), and 4) arose only because of advancement in medical technology, i.e., amniocentesis. Induced abortion because of unwanted sex of the fetus revealed by amniocentesis was the most clear-cut case of disapproval by nursing students.

  15. Clinical significance of histologic chorioamnionitis with a negative amniotic fluid culture in patients with preterm labor and premature membrane rupture.

    Science.gov (United States)

    Park, Jeong Woo; Park, Kyo Hoon; Jung, Eun Young

    2017-01-01

    To evaluate the effect of histological chorioamnionitis (HCA) with a negative amniotic fluid (AF) culture on adverse pregnancy and neonatal outcomes and inflammatory status in the AF compartment in women with preterm labor or preterm premature rupture of membranes (PPROM). This is a retrospective cohort study of 153 women diagnosed as having a preterm labor or PPROM (20-34 weeks) who delivered singleton gestations within 48 hours of amniocentesis. AF obtained through amniocentesis was cultured, and interleukin (IL)-6, IL-8, and metalloproteinase-9 (MMP-9) levels were determined. The placentas were examined histologically. The prevalence of HCA with negative AF culture was 23.5% (36/153). The women with HCA but with a negative AF culture (group 2) and those with a positive AF culture (group 3) had a significantly lower mean gestational age at amniocentesis and delivery than those with a negative AF culture and without HCA (group 1). Women in group 3 had the highest levels of AF IL-6, IL-8, and MMP-9, followed by those in group 2, and those in group 1. Composite neonatal morbidity was significantly higher in groups 2 and 3 than in group 1, but this was no longer significant after adjusting for confounders caused mainly by the impact of gestational age. In the women who delivered preterm neonates, HCA with a negative AF culture was associated with increased risks of preterm birth, intense intra-amniotic inflammatory response, and prematurity-associated composite neonatal morbidity, and its risks are similar to the risk posed by positive AF culture.

  16. Clinical significance of histologic chorioamnionitis with a negative amniotic fluid culture in patients with preterm labor and premature membrane rupture.

    Directory of Open Access Journals (Sweden)

    Jeong Woo Park

    Full Text Available To evaluate the effect of histological chorioamnionitis (HCA with a negative amniotic fluid (AF culture on adverse pregnancy and neonatal outcomes and inflammatory status in the AF compartment in women with preterm labor or preterm premature rupture of membranes (PPROM.This is a retrospective cohort study of 153 women diagnosed as having a preterm labor or PPROM (20-34 weeks who delivered singleton gestations within 48 hours of amniocentesis. AF obtained through amniocentesis was cultured, and interleukin (IL-6, IL-8, and metalloproteinase-9 (MMP-9 levels were determined. The placentas were examined histologically.The prevalence of HCA with negative AF culture was 23.5% (36/153. The women with HCA but with a negative AF culture (group 2 and those with a positive AF culture (group 3 had a significantly lower mean gestational age at amniocentesis and delivery than those with a negative AF culture and without HCA (group 1. Women in group 3 had the highest levels of AF IL-6, IL-8, and MMP-9, followed by those in group 2, and those in group 1. Composite neonatal morbidity was significantly higher in groups 2 and 3 than in group 1, but this was no longer significant after adjusting for confounders caused mainly by the impact of gestational age.In the women who delivered preterm neonates, HCA with a negative AF culture was associated with increased risks of preterm birth, intense intra-amniotic inflammatory response, and prematurity-associated composite neonatal morbidity, and its risks are similar to the risk posed by positive AF culture.

  17. Proteomic profiling of the amniotic fluid to detect inflammation, infection, and neonatal sepsis.

    Directory of Open Access Journals (Sweden)

    Catalin S Buhimschi

    2007-01-01

    Full Text Available Proteomic analysis of amniotic fluid shows the presence of biomarkers characteristic of intrauterine inflammation. We sought to validate prospectively the clinical utility of one such proteomic profile, the Mass Restricted (MR score.We enrolled 169 consecutive women with singleton pregnancies admitted with preterm labor or preterm premature rupture of membranes. All women had a clinically indicated amniocentesis to rule out intra-amniotic infection. A proteomic fingerprint (MR score was generated from fresh samples of amniotic fluid using surface-enhanced laser desorption ionization (SELDI mass spectrometry. Presence or absence of the biomarkers of the MR score was interpreted in relationship to the amniocentesis-to-delivery interval, placental inflammation, and early-onset neonatal sepsis for all neonates admitted to the Newborn Special Care Unit (n = 104. Women with "severe" amniotic fluid inflammation (MR score of 3 or 4 had shorter amniocentesis-to-delivery intervals than women with "no" (MR score of 0 inflammation or even "minimal" (MR score of 1 or 2 inflammation (median [range] MR 3-4: 0.4 d [0.0-49.6 d] versus MR 1-2: 3.8 d [0.0-151.2 d] versus MR 0: 17.0 d [0.1-94.3 d], p 100 cells/mm3, whereas the combination of Gram stain and MR score was best for rapid prediction of intra-amniotic infection (positive amniotic fluid culture.High MR scores are associated with preterm delivery, histological chorioamnionitis, and early-onset neonatal sepsis. In this study, proteomic analysis of amniotic fluid was shown to be the most accurate test for diagnosis of intra-amniotic inflammation, whereas addition of the MR score to the Gram stain provides the best combination of tests to rapidly predict infection.

  18. Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome.

    Science.gov (United States)

    Chen, Chih-Ping; Su, Yi-Ning; Chang, Tung-Yao; Chern, Schu-Rern; Chen, Chen-Yu; Su, Jun-Wei; Wang, Wayseen

    2013-06-01

    To present prenatal ultrasound and molecular genetic diagnosis of Apert syndrome. A 30-year-old, gravida 3, para 2 woman was referred for genetic counseling at 32 weeks of gestation because of polyhydramnios and craniofacial and digital abnormalities in the fetus. She had undergone amniocentesis at 18 weeks of gestation because of maternal anxiety. Results of amniocentesis revealed a karyotype of 46,XX. A prenatal ultrasound at 32 weeks of gestation revealed a female fetus with a fetal biometry equivalent to 32 weeks, polyhydramnios with an increased amniotic fluid index of 26.1 cm, frontal bossing, midface hypoplasia, hypertelorism, Blake's pouch cyst with an apparent posterior fossa cyst in communication with the fourth ventricle on axial images, digital fusion, and bilateral syndactyly of the hands and feet. A DNA testing for the FGFR2 gene was immediately performed using uncultured amniocytes obtained by repeated amniocentesis, which revealed a heterozygous c.758C>G, CCT>CGT transversion leading to a p.Pro253Arg (P253R) mutation in the FGFR2 gene. Subsequently, a diagnosis of Apert syndrome was made. Molecular analysis of the FGFR2 gene in the parents did not reveal such a mutation. The fetus postnatally manifested frontal bossing, midface hypoplasia, and bilateral syndactyly of the hands (mitten hands) and feet. Prenatal diagnosis of polyhydramnios, frontal bossing, and midface hypoplasia associated with brain and digital abnormalities should include a differential diagnosis of Apert syndrome. A molecular analysis of FGFR2 using uncultured amniocytes is useful for rapid confirmation of Apert syndrome at prenatal diagnosis. Copyright © 2013. Published by Elsevier B.V.

  19. Maternal homocystinuria: studies of an untreated mother and fetus.

    Science.gov (United States)

    Kurczynski, T W; Muir, W A; Fleisher, L D; Palomaki, J F; Gaull, G E; Rassin, D K; Abramowsky, C

    1980-01-01

    A 20-year-old woman with untreated homocystinuria was examined when she was 18 weeks' pregnant. Amniocentesis was performed and raised levels of homocystine and methionine were present in the amniotic fluid. Assay of cystathionine synthetase activity in cultured amniotic fluid cells showed the carrier state for homocystinuria. An abortion was performed because of the possible adverse effects of continuing the pregnancy both for the mother and the fetus. No pathological abnormality was found in the aborted fetus. Further data are needed to assess the possible teratogenic effects of maternal homocystinuria and the adverse consequences of pregnancy in the affected mother. PMID:7436540

  20. The scheduling of repeat cesarean section operations: prospective management protocol experience.

    Science.gov (United States)

    Read, J A

    1985-03-01

    There are benefits to patients and a busy obstetric service if repeat cesarean section operations are performed on a scheduled basis. Optimum management avoids prematurity and reduces the need for amniocentesis. Over a period of 20 months repeat cesarean sections were performed at Tripler Army Medical Center while a protocol with the following elements was used: (1) known last menstrual period; (2) landmarks: positive urine human chorionic gonadotropin test by 6 weeks, Doppler fetal heart tone by 12 weeks, date determination by examination before 10 weeks, fetoscope fetal heart tone by 20 weeks, and date determination by size before 30 weeks; (3) date determination by midtrimester sonogram(s); (4) normal third-trimester glucose screening; (5) biparietal diameter of 9.2 or 9.5 cm before scheduling. With two or more clinical landmarks and one date by sonogram or one landmark and date by two sonograms, elective repeat cesarean section was scheduled at 39 weeks if the biparietal diameter was greater than or equal to 9.2 cm (127). If dates by sonogram were less than dates by last menstrual period but greater than 1 week or if last menstrual period was unknown, dates by sonogram and landmarks corresponding to dates by sonogram were used to electively schedule, with biparietal diameters of 9.2 or 9.5 cm respectively required (28). If protocol criteria were not met or earlier delivery was indicated (e.g., vertical scar or diabetes), amniocentesis was performed (42), except when not possible, advisable, or refused when patients either elected labor (20) or were scheduled if three or more criteria for 40+ weeks were met (18). Of 225 patients (70.5%) scheduled by protocol (173), amniocentesis (34), or medical indication (18), 188 (58.9%) were delivered without labor. In the 147 patients (46.1%) delivered electively by protocol without labor or amniocentesis, there were no cases of respiratory distress syndrome and the mean birth weight was 3517 gm. With early care and better

  1. Update on procedure-related risks for prenatal diagnosis techniques

    DEFF Research Database (Denmark)

    Tabor, Ann; Alfirevic, Zarko

    2010-01-01

    Introduction: As a consequence of the introduction of effective screening methods, the number of invasive prenatal diagnostic procedures is steadily declining. The aim of this review is to summarize the risks related to these procedures. Material and Methods: Review of the literature. Results: Data...... from randomised controlled trials as well as from systematic reviews and a large national registry study are consistent with a procedure-related miscarriage rate of 0.5-1.0% for amniocentesis as well as for chorionic villus sampling (CVS). In single-center studies performance may be remarkably good due...... invasive procedures calls for quality assurance and monitoring of operators' performance....

  2. Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome

    Directory of Open Access Journals (Sweden)

    Esther Perez-Carbajo

    2015-01-01

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

  3. Mosaic trisomy 15 and hemihypertrophy.

    Science.gov (United States)

    Gérard-Blanluet, M; Elbez, A; Bazin, A; Danan, C; Verloes, A; Janaud, J C

    2001-01-01

    We report a case of mosaic trisomy 15 with mental retardation, facial dysmorphism, and hemihypertrophy, but no manifestations of Prader-Willi or Angelman syndromes. Mosaic trisomy 15 (11%) was discovered at the amniocentesis. Uniparental disomy for chromosome 15 was excluded by molecular analysis. Post-natal blood karyotype and examination were normal. Mosaic was confirmed on skin fibroblasts, placenta and cord. Evolution was marked by progressive right hemi-hypertrophy, and developmental delay. Our case is the first patient reported with hemihypertrophy associated with mosaic trisomy 15. The relevant literature is reviewed.

  4. DIAGNOSTICO Y MANEJO PERINATAL DE TRISOMIA 9

    OpenAIRE

    Inostroza C.,Alexis; Navarro M.,Héctor; Paublo M.,Mario; Muñoz,Hernán; Hernández,Américo; Catalán,Jorge; Sanz,Patricia; Puig,Paula

    2002-01-01

    Presentamos dos casos clínicos de diagnóstico antenatal de trisomía 9. Esta aneuploidía se sospechó en la evaluación ultrasonográfica durante la segunda mitad del embarazo, siendo confirmada por cordocentesis citogenética o amniocentesis. Comentamos la conducta a seguir frente a estos casos. Se realiza una revisión de la literatura destacando la escasa incidencia de diagnostico pre y postnatal con esta patología.

  5. About Those Women Who Will Never Attend the City of Women Festival

    Directory of Open Access Journals (Sweden)

    Zoja Skušek

    2015-09-01

    Full Text Available The paper deals with sex ratio, which is demolished after surpassing the ratio of 105 boys per 100 girls. This ratio has long been typical of India and China, South Korea and Vietnam, and recently also for the countries of the Caucasus, Albania and several countries of the former Yugoslavia (Kosovo, North-West Macedonia, Montenegro. Drastic changes in the demographic balance between the sexes, which call for regulatory intervention, began in the eighties with the onset of prenatal diagnostic technology, amniocentesis and ultrasound in the countries with a strong patriarchal tradition, in which sons are more desirable than daughters, and the decline of fertility rate.

  6. Molar Pregnancy with a Co-Existing Viable Fetus

    Directory of Open Access Journals (Sweden)

    Ruya Deveer

    2014-03-01

    Full Text Available     The aim of this study was to report the clinical features, management, and outcome of a case of molar pregnancy with a coexisting viable fetus and to review the literature. In this article, we report a case of pregnancy with diffuse placental molar change and a normal fetus which presented with hyperemesis gravidarum and hyperthyroidism. Genetic amniocentesis showed normal fetal karyotype. A healthy full-term live male infant was delivered by cesarean section. In molar pregnancies with a normal karyotype fetus, with intensive maternal follow-up, continuation of pregnancy can be suggested.

  7. 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.

  8. Cytogenetic highlights and transitions.

    Science.gov (United States)

    Spinner, Nancy B

    2016-06-01

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

  9. Mosaic partial trisomy 17q2.

    Science.gov (United States)

    King, P A; Ghosh, A; Tang, M

    1991-01-01

    Examination of an infant born after prenatal diagnosis of mosaic partial trisomy 17q2 showed the unique phenotypic features of this chromosomal abnormality, that is, frontal bossing, large mouth, brachyrhizomelia, and hexadactyly. Amniocentesis was performed because of polyhydramnios and ultrasound diagnosis of fetal craniofacial dysmorphology and rhizomelic shortening of the limbs. Chromosomal mosaicism was restricted to fetal tissue and amniotic fluid cells. The placental chromosomal complement was normal, suggesting that the abnormality developed after differentiation of embryonic and trophoblastic cells. This emphasises the usefulness of cytogenetic evaluation of placental, fetal, and amniotic fluid cells in delineating the pathogenesis of congenital abnormalities. Images PMID:1956067

  10. Genetics and bioethics: how our thinking has changed since 1969.

    Science.gov (United States)

    Walters, LeRoy

    2012-02-01

    In 1969, the field of human genetics was in its infancy. Amniocentesis was a new technique for prenatal diagnosis, and a newborn genetic screening program had been established in one state. There were also concerns about the potential hazards of genetic engineering. A research group at the Hastings Center and Paul Ramsey pioneered in the discussion of genetics and bioethics. Two principal techniques have emerged as being of enduring importance: human gene transfer research and genetic testing and screening. This essay tracks the development and use of these techniques and considers the ethical issues that they raise.

  11. Reflections on prenatal diagnosis: the consumers' views.

    Science.gov (United States)

    Rice, N; Doherty, R

    1982-01-01

    Twenty-three couples and three women who had amniocentesis for prenatal diagnosis of birth defects were interviewed for their responses to the process. While very positive toward the test and the information it provided, the subjects indicated significant stress while awaiting the results of the test and in facing the possibility that they might have to consider abortion if the test was positive for the defect. There was also potential for future marital conflict because of differing or erroneous interpretations of risk of abnormality in future pregnancies. Implications for genetic counselors and social work are suggested.

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

    Science.gov (United States)

    Mersy, Elke; de Die-Smulders, Christine E M; Coumans, Audrey B C; Smits, Luc J M; de Wert, Guido M W R; Frints, Suzanna G M; Veltman, Joris A

    2015-01-01

    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. Our aim was to aid health policy decision makers by conducting a quantitative analysis of different NIPT implementation strategies. Decision trees were created to illustrate all plausible alternatives in a theoretical cohort of 100,000 pregnant women in five screening programmes: classical screening by the first-trimester combined test (FCT), pre-selection of high-risk women prior to NIPT by the FCT, NIPT as the first screening test at 10 weeks and at 13 weeks, and the simultaneous conductance of NIPT and the FCT. Pre-selection by FCT prior to NIPT reduces the number of amniocenteses to a minimum because of a reduction of false-positive NIPT results. If NIPT is the first screening test, it detects almost all fetal Down syndrome cases. NIPT at 10 weeks reassures women early in pregnancy, while NIPT at 13 weeks prevents unnecessary tests due to spontaneous miscarriages and allows for immediate confirmation by amniocentesis. Every implementation strategy has its advantages and disadvantages. The most favourable implementation strategy may be NIPT as the first screening test at 13 weeks, offering the most accurate screening test for Down syndrome, when the risk for spontaneous miscarriage has declined remarkably and timely confirmation by amniocentesis can be performed. © 2015 S. Karger AG, Basel.

  13. Prospective study of the feasibility and effectiveness of a second-trimester quadruple test for Down syndrome in Thailand.

    Science.gov (United States)

    Kaewsuksai, Peeranan; Jitsurong, Siroj

    2017-11-01

    To evaluate the feasibility and effectiveness of a quadruple test for Down syndrome in the second trimester of pregnancy in clinical settings in Thailand. From October 2015 to September 2016, a prospective study was undertaken in 19 hospitals in Songkhla province, Thailand. Women with a singleton pregnancy of 14-18 weeks were enrolled and underwent the quadruple test. The risk cutoff value was set at 1:250. All women with a positive test (risk ≥1:250) were offered amniocentesis. Women were followed up until delivery. Among 2375 women, 206 (8.7%) had a positive quadruple test; 98 (47.6%) of these women voluntarily underwent amniocentesis. Overall, seven pregnancies were complicated with chromosomal abnormalities (2.9 cases in 1000), including four cases of Down syndrome (1.7 in 1000) and three of other abnormalities. The detection, false-positive, and accuracy rates of the quadruple test for Down syndrome were 75.0%, 8.6%, and 91.4%, respectively. The quadruple test was found to be a feasible and efficient method for screening for Down syndrome in the second trimester of pregnancy in a Thai clinical setting. The test should be performed for pregnant women before an invasive test for Down syndrome. © 2017 International Federation of Gynecology and Obstetrics.

  14. Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 11.

    Science.gov (United States)

    Chen, Chih-Ping; Chen, Ming; Wang, Pu-Tsui; Chern, Schu-Rern; Chen, Shin-Wen; Lai, Shih-Ting; Wu, Peih-Shan; Chang, Shun-Ping; Pan, Chen-Wen; Wang, Wayseen

    2017-06-01

    We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 11. A 37-year-old, gravida 3, para 2, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+mar[18]/46,XX[4]. The parental karyotypes were normal. Level II ultrasound findings were unremarkable. Array comparative genomic hybridization (aCGH) on the DNA extracted from cultured amniocytes revealed no genomic imbalance. The sSMC was characterized by spectral karyotyping (SKY) using 24-color SKY probes and fluorescence in situ hybridization (FISH) using a whole chromosome paint (wcp) probe and a CEP11 (D11Z1) probe. The result was 47,XX,+mar.ish(11)(SKY+, wcp11+, D11Z1+)[16]/46,XX[4], indicating that the sSMC was derived from chromosome 11. A healthy female baby was delivered at 37 weeks of gestation with no phenotypic abnormalities. The cord blood had a karyotype of 47,XX,+mar[32]/46,XX[8]. Polymorphic DNA marker analysis of the blood excluded uniparental disomy 11. The female infant was normal in growth and psychomotor development during follow-ups at two months of age. aCGH, SKY and FISH are useful in prenatal diagnosis of an sSMC derived from the centromeric region of a non-acrocentric chromosome. Copyright © 2017. Published by Elsevier B.V.

  15. Non-Invasive Prediction of Histologic Chorioamnionitis in Women with Preterm Premature Rupture of Membranes.

    Science.gov (United States)

    Kim, Su Ah; Park, Kyo Hoon; Lee, Seung Mi

    2016-03-01

    To develop a model based on non-invasive clinical and ultrasonographic parameters for predicting the likelihood of subsequent histologic chorioamnionitis in women with preterm premature rupture of membranes (PPROM) and to determine whether the inclusion of invasive test results improves the predictive value of the model. This retrospective cohort study included 146 consecutive women presenting with PPROM (20-33 weeks). Transvaginal ultrasonographic assessment of cervical length was performed. Maternal serum C-reactive protein (CRP) levels and white blood cell (WBC) counts were measured after amniocentesis. Amniotic fluid (AF) obtained by amniocentesis was cultured, and interleukin-6 (IL-6) levels and WBC counts were determined. The primary outcome measure was histologic chorioamnionitis. Risk scores based on serum CRP concentrations and gestational age (model 1) were calculated for each patient. The model was shown to have adequate goodness of fit and an area under the receiver operating characteristic curve (AUC) of 0.742. When including AF test results (e.g., AF IL-6 levels) in model 1, serum CRP concentrations were found to be insignificant, and thus, were excluded from model 2, comprising AF IL-6 levels and gestational age. No significant difference in AUC was found between models 1 and 2. For women with PPROM, the newly developed model incorporating non-invasive parameters (serum CRP and gestational age) was moderately predictive of histologic chorioamnionitis. The inclusion of invasive test results added no predictive information to the model in this setting.

  16. Prediction of imminent preterm delivery in women with preterm premature rupture of membranes.

    Science.gov (United States)

    Park, Kyo Hoon; Lee, Sung Youn; Kim, Shi Nae; Jeong, Eun Ha; Oh, Kyung Joon; Ryu, Aeli

    2011-11-16

    To develop a model based on non-invasive clinical parameters to predict the probability of imminent preterm delivery (delivery within 48 h) in women with preterm premature rupture of membranes (PPROM), and to determine if additional invasive test results improve the prediction of imminent delivery based on the non-invasive model. Transvaginal ultrasonographic assessment of cervical length was performed and maternal serum C-reactive protein (CRP) and white blood cell (WBC) count were determined immediately after amniocentesis in 102 consecutive women with PPROM at 23-33+6 weeks. Amniotic fluid (AF) obtained by amniocentesis was cultured and interleukin-6 (IL-6) levels and WBC counts were determined. Serum CRP, cervical length, and gestational age were chosen for the non-invasive model (model 1), which has an area under the curve (AUC) of 0.804. When adding AF IL-6 as an invasive marker to the non-invasive model, serum CRP was excluded from the final model (model 2) as not significant, whereas AF IL-6, cervical length, and gestational age remained in model 2. No significant difference in AUC was found between models 1 and 2. The non-invasive model based on cervical length, gestational age, and serum CRP is highly predictive of imminent delivery in women with PPROM. However, invasive test results did not add predictive information to the non-invasive model in this setting.

  17. Non-invasively collected amniotic fluid as a source of possible biomarkers for premature rupture of membranes investigated by proteomic approach.

    Science.gov (United States)

    Consonni, Sara; Mainini, Veronica; Pizzardi, Agnese; Gianazza, Erica; Chinello, Clizia; Locatelli, Anna; Magni, Fulvio

    2014-02-01

    Preterm delivery is one of the main causes of perinatal morbidity and mortality and it accounts for 75 % of perinatal mortality and more than half of the long-term morbidity. We applied a proteomic approach based on mass spectrometry (MS) for biomarkers discovery of preterm premature rupture of membranes (pPROM) by investigating amniotic fluid (AF) invasively and non-invasively collected. Amniotic fluid was obtained from vagina of women with pPROM (group 1), PROM at term (group 2) and by genetic amniocentesis (group 3). Pre-fractionated AF proteome was analyzed through matrix assisted laser desorption ionization-time of flight (MALDI-TOF) MS. The characterization of proteins/peptides of interest was obtained by high performance liquid chromatography-electrospray tandem MS. Three peptides overexpressed in pPROM and able to discriminate the groups 1 and 2 were detected. One peptide was identified as the fragment Gly452LAVPDGPLGLPPKPro466 of the protein KIAA1522, expressed by fetal brain and liver. This peptide was overexpressed in a patient of the group 3, completely asymptomatic at the time of the amniocentesis, who later developed pPROM. Amniotic fluid invasively and non-invasively collected can be analyzed by MALDI-TOF MS to obtain proteomic profiles. Proteomic analysis identified a peptide with promising diagnostic capability for pPROM.

  18. Therapeutic modalities of twin to twin transfusion syndrome

    Directory of Open Access Journals (Sweden)

    Šulović N.

    2015-01-01

    Full Text Available Twin to twin transfusion syndrome (TTTTS accounts for approximately 10% of monochorionic twin pregnancies and, if left untreated, is associated with high morbidity and mortality rate. A net transfusion of blood flow from one fetus (donor twin to the other (recipient twin via placental vascular anastomoses has been supposed as the major etiology of TTTTS. The donor twin becomes hypovolemic and oliguria, oligohydramnios, and a variable degree of growth restriction develop, whereas the recipient twin manifests polyuria, polyhydramnios, and hydrops in response to hypervolemia. TTTTS can be treated by either serial amniocentesis or selective fetoscopic laser coagulation of the communicating vessels. The rationale for removal of large volumes of amniotic fluid is to prevent preterm delivery secondary to polyhydramnios and to improve fetal circulation by reducing pressure on the chorionic plate. On the other hand, the goal of laser therapy is to occlude vascular anastomoses, thereby interrupting intertwin blood exchange. Although laser treatment is associated with increased survival rate and reduced neurologic complications, compared with amnioreduction, it requires highly specialized centers, whereas serial amniocentesis has the advantage of being performed worldwide. Therefore, the optimal treatment for pregnancies complicated with TTTTS is still controversial.

  19. Physical examination-indicated cerclage in singleton and twin pregnancies: maternal-fetal outcomes.

    Science.gov (United States)

    Bernabeu, Andrea; Goya, Maria; Martra, Miquel; Suy, Anna; Pratcorona, Laia; Merced, Carme; Llurba, Elisa; Casellas, Manel; Carreras, Elena; Cabero, Luis

    2016-01-01

    To study maternal and perinatal outcomes after physical examination-indicated cerclage in both singleton and twin pregnancies and evaluate the possible risk factors associated. Retrospective review of all women undergoing physical examination-indicated cerclage at the Hospital Vall d'Hebro, Barcelona from January 2009 to December 2012 after being diagnosed with cervical incompetence and risk of premature birth. During the study period, 60 cases of women diagnosed with cervical incompetence who were carrying live and morphologically-normal fetuses (53 singleton and 7 twin pregnancies), and who had an imminent risk of premature birth were evaluated. Mean gestational age until birth was 35 weeks in singleton and 32 weeks in twin pregnancies. Four cases (7.5%) of immature births and one case (2.0%) of neonatal death were recorded in singleton pregnancies. No cases of immature births or neonatal deaths were recorded in twin pregnancies. Diagnostic amniocentesis was performed IN all cases to rule out possible chorioamnionitis. Physical examination-indicated cerclage for cervical incompetence in women at risk for immature or preterm birth demonstrates good perinatal prognosis without increasing maternal morbidity in either singleton or twin pregnancies. The increase in gestation time in our study may also have been due to the fact that patients with subclinical chorioamnionitis were excluded by diagnostic amniocentesis.

  20. What would you say? Genetic counseling graduate students' and counselors' hypothetical responses to patient requested self-disclosure.

    Science.gov (United States)

    Redlinger-Grosse, Krista; Veach, Patricia McCarthy; MacFarlane, Ian M

    2013-08-01

    Genetic counselor self-disclosure is a complex behavior that lacks extensive characterization. In particular, data are limited about genetic counselors' responses when patients ask them to self-disclose. Accordingly, this study investigated genetic counseling students' (n = 114) and practicing genetic counselors' (n = 123) responses to two hypothetical scenarios in which a female prenatal patient requests self-disclosure. Scenarios were identical except for a final patient question: "Have you ever had an amniocentesis?" or "What would you do if you were me?" Imagining themselves as the counselor, participants wrote a response for each scenario and then explained their response. Differences in disclosure frequency for students vs. counselors and disclosure question were assessed, and themes in participant responses and explanations were extracted via content and thematic analysis methods. Chi-square analyses indicated no significant differences in frequency of student versus counselor disclosure. Self-disclosure was significantly higher for, "Have you ever had an amniocentesis?" (78.5 %) than for, "What would you do if you were me?" (53.2 %) (p self-disclosures included personal, professional, and mixed disclosures. Prevalent explanations for disclosure and non-disclosure responses included: remain patient focused and support/empower the patient. Additional findings, practice and training implications, and research recommendations are presented.

  1. The population impact of screening for Down syndrome: audit of 19 326 invasive diagnostic tests in England and Wales in 2008.

    Science.gov (United States)

    Morris, Joan K; Waters, Jonathan J; de Souza, E

    2012-06-01

    Pregnant women who receive a high screening risk result for Down, Edwards or Patau syndrome are offered diagnostic tests that carry a risk of miscarriage. This study determined how many women had such tests per syndrome diagnosis. The number of tests per Down, Edwards or Patau syndrome diagnosis adjusted for maternal and gestational age at diagnosis was calculated using routine data from 18 (95%) cytogenetic laboratories in England and Wales in 2008. There were 19,326 tests that identified 1118 diagnoses of Down syndrome and 615 of Edwards and Patau syndromes. There were eight chorionic villus samplings (CVS) per syndrome diagnosis compared with 16 amniocenteses (gestational age adjusted). The lowest number of tests per diagnosis (three for CVSs and for amniocentesis) resulted from an abnormal ultrasound scan. Among pregnant women, 2.9% had an invasive diagnostic test. If a CVS and an amniocentesis increase the risk of a miscarriage by 1% and 0.5%, respectively, approximately one miscarriage for every 14 Down, Edwards or Patau syndrome diagnosis would have occurred. A simple measurement of the population impact of screening for Down syndrome can be calculated using data already collected. Annual estimates should be produced to monitor the national fetal anomaly screening programme. © 2012 John Wiley & Sons, Ltd. © 2012 John Wiley & Sons, Ltd.

  2. Persistent Low Toxoplasma IgG Avidity Is Common in Pregnancy: Experience from Antenatal Testing in Norway.

    Science.gov (United States)

    Findal, Gry; Stray-Pedersen, Babill; Holter, Ellen K; Berge, Tone; Jenum, Pål A

    2015-01-01

    The parasite Toxoplasma gondii might harm the fetus if a woman is infected during pregnancy. IgG seroconversion and significant increase in IgG antibody amount in pregnancy indicates maternal infection. Presence of toxoplasma immunoglobulin M (IgM), immunoglobulin G (IgG) and low IgG avidity in a single serum sample indicates possible maternal infection, but positive toxoplasma IgM and low IgG avidity may persist for months and even years. We aimed to evaluate avidity development during pregnancy in a retrospective study. Serial blood samples from 176 pregnant women admitted to Oslo University Hospital 1993-2013 for amniocentesis because of suspected toxoplasma infection were included. Data were obtained from journals and laboratory records. The avidity method used was based on Platelia Toxo IgG assay. Mean maternal age at first serology was 29.9 years (SD 5.2, range 18-42). In 37 (21%) women only the avidity increased from low to high in toxoplasma serology should ideally be collected in early pregnancy and if stable values of toxoplasma IgM and low IgG-avidity are detected in a second sample after three to four weeks, the need for amniocentesis can be questioned.

  3. Comparison of chromosome analysis using cell culture by coverslip technique with flask technique.

    Science.gov (United States)

    Sajapala, Suraphan; Buranawut, Kitti; NiwatArunyakasemsuk, Md

    2014-02-01

    To determine accuracy rate ofchromosome study from amniotic cellculture by coverslip technique compared with flask technique and to compared timing ofamniotic cell culture, amount ofamniotic cell culture media and cost ofamniotic cell culture. Cross sectional study. Department of Obstetrics and Gynecology, Phramongkutklao Hospital. Subjects: 70 pregnant women who underwent amniocentesis at Phramongkutklao Hospital during November 1, 2007 to February 29, 2008. Amniotic cell culture by flask technique and coverslip technique. Accuracy of amniotic cell culture for chromosome study by coverslip technique compared with flask technique. Totally 70 pregnant women who underwent to amniocentesis and dividedamniotic fluid to cell culture by flask technique and coverslip technique. 69 samples had similar resultfrom both techniques. The only one sample had cell culture failure inboth methods due to blood contamination. Accuracy in coverslip technique was 100% compared with flask technique. In timing of amniotic cell culture, amount ofamniotic cell culture media and cost of amniotic cell culture between 2 methods that coverslip technique was lesser than flask technique. There is statistically significant of accuracy in chromosome result between coverslip technique and flask technique. Coverslip technique was lesser than flask technique in timing, amniotic cell culture media and costs ofamniotic cell culture.

  4. Timing of Histologic Progression from Chorio-Deciduitis to Chorio-Deciduo-Amnionitis in the Setting of Preterm Labor and Preterm Premature Rupture of Membranes with Sterile Amniotic Fluid.

    Directory of Open Access Journals (Sweden)

    Chan-Wook Park

    Full Text Available Histologic chorio-deciduitis and chorio-deciduo-amnionitis (amnionitis in extra-placental membranes are known to represent the early and advanced stages of ascending intra-uterine infection. However, there are no data in humans about the time required for chorio-deciduitis to develop and for chorio-deciduitis without amnionitis to progress to chorio-deciduitis with amnionitis, and the effect of prolongation of pregnancy on the development of chorio-deciduitis and amnionitis in patients with preterm labor and intact membranes (PTL and preterm premature rupture of membranes (preterm-PROM. We examined these issues in this study.The study population consisted of 289 women who delivered preterm (133 cases with PTL, and 156 cases with preterm-PROM and who had sterile amniotic fluid (AF defined as a negative AF culture and the absence of inflammation as evidenced by a matrix metalloproteinase-8 (MMP-8 level <23 ng/ml. We examined the association between amniocentesis-to-delivery interval and inflammatory status in the extra-placental membranes (i.e., inflammation-free extra-placental membranes, choroi-deciduitis only, and chorio-deciduitis with amnionitis in patients with PTL and preterm-PROM.Amniocentesis-to-delivery interval was longer in cases of chorio-deciduitis with amnionitis than in cases of chorio-deciduitis only in both PTL (median [interquartile-range (IQR]; 645.4 [319.5] vs. 113.9 [526.9] hours; P = 0.005 and preterm-PROM (131.3 [135.4] vs. 95.2 [140.5] hours; P<0.05. Amniocentesis-to-delivery interval was an independent predictor of the development of both chorio-deciduitis and amnionitis after correction for confounding variables such as gestational age at delivery in the setting of PTL, but not preterm-PROM.These data confirm for the first time that, in cases of both PTL and preterm-PROM with sterile AF, more time is required to develop chorio-deciduitis with amnionitis than chorio-deciduitis alone in extra-placental membranes. Moreover

  5. Attitudes about abortion of women who undergo prenatal diagnosis.

    Science.gov (United States)

    Kolker, A; Burke, B M; Phillips, J U

    1991-01-01

    Data on 120 women who had experienced either amniocentesis or chorionic villus sampling (CVS) and were attending clinics serving women in the Washington, D.C. area or in the San Diego, California area were analyzed to examine their attitudes toward abortion. In-depth, open-ended interviews were also conducted with 24 currently or recently pregnant women who had also undergone a prenatal diagnostic procedure. All the women wanted the pregnancy in question, and all were more wealthy and better educated than the average woman in the US. Yet women who underwent CVS were better educated (completed college, 89.1% vs. 57.2%) and were more affluent (mean household income, $56,000 vs. $46,000) than those who underwent amniocentesis. Women who had CVS encountered difficulties with obtaining access to CVS and, if it were not for their own initiative, they would have not been able to undergo CVS. This emphasized that, due to more economic, educational, or informational resources, they had greater access to prenatal care. It also verified earlier studies identifying a correlation between adoption of innovations and individual resources. 39.5% of CVS users had earlier elected to terminate a previous pregnancy compared with 22.4% of amniocentesis users. Most respondents supported women's freedom of choice to abort a pregnancy for reasons of endangerment to a mother's health (100% for general population, 98.1% for self), rape or incest (98.2% vs. 97.2%), fetal abnormality (99.1% vs. 100%), low income (86.7% vs. 61.2%), and desire to have no more children (81.3%-88.5% vs. 52.5%-74.5%). Yet few women (19.2% vs. 5.3%) approved of abortion based on sex of the fetus. Even though the respondents were committed to abortion rights, they tended to find it personally hard, if not impossible, to terminate a pregnancy now. They spent considerable emotional and financial resources toward the wanted pregnancy, but, by choosing to undergo prenatal diagnosis, were willing to face the possibility

  6. Detection of microbial invasion of the amniotic cavity by analysis of cervicovaginal proteins in women with preterm labor and intact membranes.

    Science.gov (United States)

    Combs, C Andrew; Garite, Thomas J; Lapidus, Jodi A; Lapointe, Jerome P; Gravett, Michael; Rael, Julie; Amon, Erol; Baxter, Jason K; Brady, Kim; Clewell, William; Eddleman, Keith A; Fortunato, Stephen; Franco, Albert; Haas, David M; Heyborne, Kent; Hickok, Durlin E; How, Helen Y; Luthy, David; Miller, Hugh; Nageotte, Michael; Pereira, Leonardo; Porreco, Richard; Robilio, Peter A; Simhan, Hyagriv; Sullivan, Scott A; Trofatter, Kenneth; Westover, Thomas

    2015-04-01

    Microbial invasion of the amniotic cavity (MIAC) is common in early preterm labor and is associated with maternal and neonatal infectious morbidity. MIAC is usually occult and is reliably detected only with amniocentesis. We sought to develop a noninvasive test to predict MIAC based on protein biomarkers in cervicovaginal fluid (CVF) in a cohort of women with preterm labor (phase 1) and to validate the test in an independent cohort (phase 2). This was a prospective study of women with preterm labor who had amniocentesis to screen for MIAC. MIAC was defined by positive culture and/or 16S ribosomal DNA results. Nine candidate CVF proteins were analyzed by enzyme-linked immunosorbent assay. Logistic regression was used to identify combinations of up to 3 proteins that could accurately classify the phase 1 cohort (N = 108) into those with or without MIAC. The best models, selected by area under the curve (AUC) of the receiver operating characteristic curve in phase 1, included various combinations of interleukin (IL)-6, chemokine (C-X-C motif) ligand 1 (CXCL1), alpha fetoprotein, and insulin-like growth factor binding protein-1. Model performance was then tested in the phase 2 cohort (N = 306). MIAC was present in 15% of cases in phase 1 and 9% in phase 2. A 3-marker CVF model using IL-6 plus CXCL1 plus insulin-like growth factor binding protein-1 had AUC 0.87 in phase 1 and 0.78 in phase 2. Two-marker models using IL-6 plus CXCL1 or alpha fetoprotein plus CXCL1 performed similarly in phase 2 (AUC 0.78 and 0.75, respectively), but were not superior to CVF IL-6 alone (AUC 0.80). A cutoff value of CVF IL-6 ≥463 pg/mL (which had 81% sensitivity in phase 1) predicted MIAC in phase 2 with sensitivity 79%, specificity 78%, positive predictive value 38%, and negative predictive value 97%. High levels of IL-6 in CVF are strongly associated with MIAC. If developed into a bedside test or rapid laboratory assay, cervicovaginal IL-6 might be useful in selecting patients in

  7. Update on procedure-related risks for prenatal diagnosis techniques

    DEFF Research Database (Denmark)

    Tabor, Ann; Alfirevic, Zarko

    2010-01-01

    Introduction: As a consequence of the introduction of effective screening methods, the number of invasive prenatal diagnostic procedures is steadily declining. The aim of this review is to summarize the risks related to these procedures. Material and Methods: Review of the literature. Results: Data...... from randomised controlled trials as well as from systematic reviews and a large national registry study are consistent with a procedure-related miscarriage rate of 0.5-1.0% for amniocentesis as well as for chorionic villus sampling (CVS). In single-center studies performance may be remarkably good due...... not be performed before 15 + 0 weeks' gestation. CVS on the other hand should not be performed before 10 weeks' gestation due to a possible increase in risk of limb reduction defects. Discussion: Experienced operators have a higher success rate and a lower complication rate. The decreasing number of prenatal...

  8. Human prenatal diagnosis

    International Nuclear Information System (INIS)

    Filkins, K.; Russo, R.J.

    1985-01-01

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

  9. Informed consent: attitudes, knowledge and information concerning prenatal examination

    DEFF Research Database (Denmark)

    Dahl, Katja; Kesmodel, Ulrik; hvidman, lone

    2006-01-01

    of the possibility of a false negative result. The risk of miscarriage in relation to amniocentesis (AC) is unknown to 11-53%. Uptake rates are associated with attitudes towards prenatal examinations, but not knowledge of the test offered. A total of 88 % concidered their health care provider an important source...... of information, and 57 % stated that this information has influenced their decision.  Conclusions: Pregnant women favor prenatal examinations, but the choice of participation does not seem to be based on insight to enable full informed consent. Health care providers are perceived as an essential source......Background: Providing women with information enabling an informed consent to prenatal examinations has been widely recommended. Objective: The primary purpose of this review is to summarise current knowledge of the pregnant woman's expectations and attitudes concerning prenatal examinations...

  10. Fetal karyotype: can we always trust its result?

    Directory of Open Access Journals (Sweden)

    Carolina Leite Drummond

    2008-09-01

    Full Text Available We retrospectively investigated six cases of discrepancy between prenatal fetal karyotype and postnatal findings. In five cases, the chromosomal abnormalities initially found by CVS or amniocentesis were not confirmed by later analyses and postnatal examination. In one case, the fetal karyotype found to be normal by CVS had to be checked due to sonographic features and clinical anomalies found after birth. In most cases, the normal development on sonographic examination raised the doubt about the abnormal fetal karyotype. Discrepant findings between fetal karyotype results and sonographic findings require great caution in their interpretation and counseling of parents. Placental confined mosaicism seems to be the most frequent cause of such discrepant results. The interpretation of fetal karyotype results should always be correlated with sonographic and clinical findings.

  11. The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history.

    Science.gov (United States)

    Rodríguez, L; Zollino, M; Mansilla, E; Martínez-Fernández, M L; Pérez, P; Murdolo, M; Martínez-Frías, M L

    2007-05-01

    We report on the molecular cytogenetics studies in a healthy couple who had had three pregnancies which ended in a termination of pregnancy (TOP). In two of them, prenatal sonogram showed fetal dwarfism and in the third one, a chromosome alteration was found in the amniocentesis. A previous pregnancy ended in a healthy girl. A high-resolution G-band karyotype (550-850 bands), together with Fluorescence in situ Hybridization (FISH) techniques, detected in the father a 4p interstitial euchromatic duplication. This chromosome duplication appears to be a previously undescribed euchromatic variant (EV). We discuss the possibility that the 4p paternal EV could be involved in the clinical and genetic findings of the three TOPs.

  12. A case report of prenatally detected achondrogenesis type Ⅱ with an occipital cephalocele

    Directory of Open Access Journals (Sweden)

    Behnaz Moradi

    2017-09-01

    Full Text Available Achondrogenesis is a very rare lethal skeletal disorder. Here we describe a case of prenatally diagnosed achondrogenesis type Ⅱ in a 28 year-old woman at (17+4 wk. She had history of 5 first trimester missed abortions. The couple is consanguineous. Ultrasonography showed extreme micromelia, short neck and trunk, large head and prominent abdomen. Delayed ossification in sacral bones was detected and ossification of pubic rami was poor. There were associated large cystic hygroma, anasarca and also high occipital cephalocele. Posterior fossa was normal. Mild hypothelorism, depressed nasal bridge, low set ear and mild retrognathia were identified too. Amniocentesis result was compatible with a normal female fetus. Post mortem whole body radiography confirmed the diagnosis. To our knowledge, this is the second case report with association of cephalocele and achondrogenesis type Ⅱ.

  13. [A de novo mutation of P gene causes oculocutaneous albinism type 2 with prenatal diagnosis].

    Science.gov (United States)

    Zhang, Liyun; Xu, Bei; Zhong, Yanfang; Chen, Xiaofei; Zheng, Hui; Jiang, Weiying; Li, Hongyi

    2013-06-01

    To determine the genotype of a family affected with oculocutaneous albinism (OCA) and to provide genetic counseling and prenatal diagnosis. To determine the genotypes and mutational sites through PCR and sequencing for all exons and exon-intron junctions of 4 OCA genes in the proband and the P gene of her parents. Prenatal genotyping of the fetus was carried out using amniocentesis sample. The patient was diagnosed with OCA2 based on a genotype of c.1327G>A/c.2360C>T. Her father was heterozygous for c.2360C> T, whilst her mother has none of the two mutations. c.1327G>A is therefore a maternal de novo mutation. Neither of the mutations was found in the fetus. A maternally inherited de novo mutation c.1327G>A has been identified in the patient. In order to detect de novo mutations, full sequence analysis is necessary.

  14. Prenatal diagnosis of hemoglobinopathies: from fetoscopy to coelocentesis

    Directory of Open Access Journals (Sweden)

    Gianfranca Damiani

    2014-09-01

    Full Text Available Prenatal diagnosis of hemoglobinopathies involves the study of fetal material from blood, amniocytes, trophoblast coelomatic cells and fetal DNA in maternal circulation. Its first application dates back to the 70s and it involves globin chain synthesis analysis on fetal blood. In the 1980s molecular analysis was introduced as well as amniocentesis and chorionic villi sampling under high-resolution ultrasound imaging. The application of direct sequencing and polymerase chain reactionbased methodologies improved the DNA analysis procedures and reduced the sampling age for invasive prenatal diagnosis from 18 to 16- 11 weeks allowing fetal genotyping within the first trimester of pregnancy. In the last years, fetal material obtained at 7-8 weeks of gestation by coelocentesis and isolation of fetal cells has provided new platforms on which to develop diagnostic capabilities while non-invasive technologies using fetal DNA in maternal circulation are starting to develop.

  15. A rare prenatal case with two de novo inversions and a translocation: 48, XX,t(9;12)(q32;p24.3), inv(11)(p15.1q25), inv(13)(q12.q22)

    Energy Technology Data Exchange (ETDEWEB)

    Harrison, B.; Balaban, L.; Eldred, C. [Albany Medical College, Albany, NY (United States)] [and others

    1994-09-01

    Ultrasound examination of a para 1, gravida 2, 26 y.o. showed severe hydrocephalus and polyhydramnios. Amniocentesis was performed at 27 weeks. High resolution chromosome analysis revealed a karyotype with a 9;12 translocation, a pericentric inversion of chromosome 11, and a paracentric inversion of chromosome 13. Parental chromosome studies were normal. The mother was not on medication prior to her pregnancy and there was no known exposure to radiation. Delivery was at 34 weeks gestation. The phenotype consisted of micrognathia, low set ears, hypertelorism, and hydrodcephaly. Review of the literature revealed a single report with multiple de novo aberrations consisting of a 6;14 translocation and a deleted 7. This was diagnosed in the child of a woman with systemic lupus erythematous treated with azathioprine. These types of abnormalities have been known to be induced by chemical and radiation exposure. High resolution banding combined with molecular studies presently improve our ability to detect subtle structural aberrations.

  16. 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.

  17. Prenatal diagnosis of cystic fibrosis: 10-years experience.

    Science.gov (United States)

    Hadj Fredj, S; Ouali, F; Siala, H; Bibi, A; Othmani, R; Dakhlaoui, B; Zouari, F; Messaoud, T

    2015-06-01

    We present in this study our 10years experience in prenatal diagnosis of cystic fibrosis performed in the Tunisian population. Based on family history, 40 Tunisian couples were selected for prenatal diagnosis. Fetal DNA was isolated from amniotic fluid collected by transabdominal amniocentesis or from chronic villi by transcervical chorionic villus sampling. The genetic analysis for cystic fibrosis mutations was performed by denaturant gradient gel electrophoresis and denaturing high-pressure liquid phase chromatography. We performed microsatellites analysis by capillary electrophoresis in order to verify the absence of maternal cell contamination. Thirteen fetuses were affected, 21 were heterozygous carriers and 15 were healthy with two normal alleles of CFTR gene. Ten couples opted for therapeutic abortion. The microsatellites genotyping showed the absence of contamination of the fetal DNA by maternal DNA in 93.75%. Our diagnostic strategy provides rapid and reliable prenatal diagnosis at risk families of cystic fibrosis. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  18. Prenatal screening at 11-13+6 weeks in assisted reproductive technology singleton pregnancies and those conceived naturally.

    Science.gov (United States)

    Gong, Meng; Shi, Hua; Zhang, Yu-guo; Ming, Lei

    2015-10-01

    To investigate whether assisted reproductive technology (ART) increases the risk of fetal chromosomal abnormalities. A total of 2034 singleton pregnant women were included in this retrospective study. They were divided into ART (574 fetuses) and control groups (1460 fetuses conceived naturally). All pregnant women received screening according to the Fetal Medicine Foundation, London 2004 Kypros H. Nicolaides guidelines at 11-13+6 weeks of gestation. Accordingly, women with value at risk of chromosomal abnormalities >1:250 underwent chorionic villus sampling or amniocentesis. Mean body mass index was 22.83 ± 3.27 versus 21.29 ± 2.81 kg/m(2) in the ART and control groups, respectively (P fetal chromosomal abnormalities. Additionally, fetus size in the ART group was bigger than that in the natural conception group. © 2015 Japan Society of Obstetrics and Gynecology.

  19. Praenatal diagnostik af døvhed blandt foraeldre til cochlear-implanterede børn

    DEFF Research Database (Denmark)

    Thorsen, Anne; Devantier, Louise; Ovesen, Therese

    2009-01-01

    INTRODUCTION: Hearing loss affects 1.5 of newborns in Denmark. New research estimates that genetic factors account for 60% of hearing loss present at birth or in early childhood. The growing knowledge of the genetic causes of hearing loss provides new potential in the diagnostic process, either......, audiologic testing was implemented in Denmark in 2004. In future, screening for hearing loss would benefit from the addition of molecular genetic testing to detect late-onset hearing loss. Udgivelsesdato: 2009-Apr-20...... as prenatal diagnostics (PND) by means of placenta biopsy or amniocentesis or as a supplement to the existing audiologic screening. The purpose of this study was to shed light on the attitude towards PND among the parents of 22 children who received a cochlear implant in the cochlear implant centre of Western...

  20. CONGENITAL MALFORMATIONS: PRENATAL DIAGNOSTICS AND NOVEL CONCEPTION OF MEDICAL HELP TO NEWBORNS

    Directory of Open Access Journals (Sweden)

    Yu.F. Isakov

    2007-01-01

    Full Text Available Current views on basic prenatal diagnostics techniques, as ultrasound, maternal serum biochemical markers (alpha fetoprotein, human chorionic gonadotropin, and unconjugated estriol, and fetal biologic material (chorionic villus sampling, placenta, amniotic liquid, fetal blood, obtained with invasive techniques (chorion biopsy, amniocentesis, cordocentesis, its' efficacy and possible practical application are given in the article. These new conception announce to consolidate three branches providing maternal and children — welfare should consolidate maternal welfare outpatient clinics, maternal hospital and newborn surgery hospital — into one institute, thus allowing to success work of all stages, to avoid transportation and late surgical treatment, to reduce lethal outcomes following surgical treatment of congenital malformations. Primary results of implementation of this conception are presented in the article.Key words: prenatal diagnostics, newborns, congenital mal formations, prevention and prophylactics, diagnostics.

  1. The development of a genetic investigation centre at a maternity hospital.

    Science.gov (United States)

    Hockey, A

    1975-08-16

    The development of a centre for the investigation of genetic aspects of still birth, neonatal deaths and mental deficiency is described. It is suitably located in a maternity hospital and provides counselling early enough to prevent the brith of a subsequent affected infant in high-risk groups. A variety of laboratory and other facilities are in close proximity. This has the advantage of allowing procedures, such as amniocentesis and ultrasound examination for prenatal diagnosis, to be arranged in consultation with hospital staff members. The aetiology of the first 120 cases seen, their reason for referral, recurrence risk, and "decision made", are reported in detail elsewhere. The mode of operation with regard to source of case, appointments, staff and records is outlined fully in this paper. The conclusion to be reached is that, within two years of its inception, the genetic investigation centre is already providing a useful community service.

  2. Matrix metalloproteinase-2 is elevated in midtrimester amniotic fluid prior to the development of preeclampsia

    Directory of Open Access Journals (Sweden)

    Daniel-Spiegel Etty

    2009-08-01

    Full Text Available Abstract Objective To evaluate levels of matrix metalloproteinases (MMP and their inhibitors (TIMP in second trimester amniotic fluid of women with hypertensive disorders compared to normotensive women. Study Design Amniotic fluid was obtained from 133 women undergoing genetic second trimester amniocentesis. Zymography was performed for MMP characterization and an MMP-2 ELISA kit was used to determine MMP-2 levels. TIMP-2 expression was evaluated using western blot. Results Mean amniotic fluid MMP-2 and TIMP-2 levels were significantly higher in women who developed a hypertensive disorder compared to normotensive women (P Conclusion Higher amniotic fluid MMP-2 and TIMP-2 levels are found in women who eventually develop preeclampsia.

  3. The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing

    Directory of Open Access Journals (Sweden)

    Giuseppina Rapacchia

    2015-01-01

    Full Text Available Panorama Plus (Natera, a single-nucleotide polymorphism- (SNP- based approach that relies on the identification of maternal and fetal allele distributions, allows the detection of common aneuploidies and also incorporates a panel of 5 microdeletions including Di George syndrome. We report here the first case of Di George syndrome detected by NIPT in Italy; blood was drawn at 12 weeks’ gestation. The patient had an amniocentesis to confirm the diagnosis by MLPA (multiplex ligation-dependent probe amplification and an ultrasound aimed to detect the features associated with the syndrome. A right aortic arch and suspect of thymus atrophy were detected, but not other severe malformations typical of the disease. The patient terminated the pregnancy at 17 weeks. NIPT allowed an early screening of Di George syndrome. As the patient was at low risk, it is likely that an ultrasound would have missed the condition.

  4. The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing.

    Science.gov (United States)

    Rapacchia, Giuseppina; Lapucci, Cristina; Pittalis, Maria Carla; Youssef, Aly; Farina, Antonio

    2015-01-01

    Panorama Plus (Natera), a single-nucleotide polymorphism- (SNP-) based approach that relies on the identification of maternal and fetal allele distributions, allows the detection of common aneuploidies and also incorporates a panel of 5 microdeletions including Di George syndrome. We report here the first case of Di George syndrome detected by NIPT in Italy; blood was drawn at 12 weeks' gestation. The patient had an amniocentesis to confirm the diagnosis by MLPA (multiplex ligation-dependent probe amplification) and an ultrasound aimed to detect the features associated with the syndrome. A right aortic arch and suspect of thymus atrophy were detected, but not other severe malformations typical of the disease. The patient terminated the pregnancy at 17 weeks. NIPT allowed an early screening of Di George syndrome. As the patient was at low risk, it is likely that an ultrasound would have missed the condition.

  5. Maternal uniparental disomy of chromosome 16 and body stalk anomaly.

    Science.gov (United States)

    Chan, Y; Silverman, N; Jackson, L; Wapner, R; Wallerstein, R

    2000-10-02

    We report on a fetus with placental trisomy 16, maternal uniparental disomy (UPD), and body stalk anomaly. Body stalk anomaly is a rare, fatal developmental abnormality consisting of a defective abdominal wall with abdominal organs in a sac outside the abdominal cavity covered by amnion adherent to the placenta with absence or severe shortness of the umbilical cord. Trisomy 16 was identified in the placenta in all cells. Amniocentesis was karyotypically normal. Parental origin studies showed maternal UPD for chromosome 16 in post-termination fetal tissue. The cause of the body stalk anomaly is not clearly defined. There are no other reports of placental karyotype or UPD investigations with body stalk anomaly. To our knowledge, this is the first report of placental trisomy 16, UPD in fetus, and body stalk anomaly, suggesting placental insufficiency or imprinting effects as cause of this anomaly. Am. J. Med. Genet. 94:284-286, 2000. Copyright 2000 Wiley-Liss, Inc.

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

    Directory of Open Access Journals (Sweden)

    Ayşegül Türkyılmaz

    2007-01-01

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

  7. Recent advances in prenatal genetic screening and testing

    Science.gov (United States)

    Van den Veyver, Ignatia B.

    2016-01-01

    The introduction of new technologies has dramatically changed the current practice of prenatal screening and testing for genetic abnormalities in the fetus. Expanded carrier screening panels and non-invasive cell-free fetal DNA-based screening for aneuploidy and single-gene disorders, and more recently for subchromosomal abnormalities, have been introduced into prenatal care. More recently introduced technologies such as chromosomal microarray analysis and whole-exome sequencing can diagnose more genetic conditions on samples obtained through amniocentesis or chorionic villus sampling, including many disorders that cannot be screened for non-invasively. All of these options have benefits and limitations, and genetic counseling has become increasingly complex for providers who are responsible for guiding patients in their decisions about screening and testing before and during pregnancy. PMID:27853526

  8. Recent advances in prenatal genetic screening and testing [version 1; referees: 3 approved

    Directory of Open Access Journals (Sweden)

    Ignatia B. Van den Veyver

    2016-10-01

    Full Text Available The introduction of new technologies has dramatically changed the current practice of prenatal screening and testing for genetic abnormalities in the fetus. Expanded carrier screening panels and non-invasive cell-free fetal DNA-based screening for aneuploidy and single-gene disorders, and more recently for subchromosomal abnormalities, have been introduced into prenatal care. More recently introduced technologies such as chromosomal microarray analysis and whole-exome sequencing can diagnose more genetic conditions on samples obtained through amniocentesis or chorionic villus sampling, including many disorders that cannot be screened for non-invasively. All of these options have benefits and limitations, and genetic counseling has become increasingly complex for providers who are responsible for guiding patients in their decisions about screening and testing before and during pregnancy.

  9. Twin-twin transfusion syndrome presenting as polyhydramnios in both fetuses secondary to spontaneous microseptostomy.

    Science.gov (United States)

    Hackney, David N; Khalek, Nahla; Moldenhauer, Julie; Ozcan, Tulin

    2013-10-01

    The presence of polyhydramnios and oligohydramnios is pathognomonic for twin-twin transfusion syndrome (TTTS). However, polyhydramnios of both twins can exist in TTTS in the setting of a septostomy of the dividing membrane. In prior reported cases of dual polyhydramnios TTTS, the septostomy was identified through either ultrasound or fetoscopy thus helping to establish the diagnosis of TTTS with an unusual presentation. The presented case is a set of monochorionic, diamniotic twins who presented initially with dual polyhydramnios. Subsequent ultrasound and clinical and pathologic findings were otherwise consistent with TTTS. Unlike prior reported cases, a septostomy of the dividing membrane was never identified with ultrasound or even on post delivery placental examination. However, microseptostomies were demonstrated due to the transfer of indigo carmine between the amniotic sacs at amniocentesis. Thus in the setting of TTTS concern, the diagnosis should be considered with dual polyhydramnios even if a septostomy cannot be identified.

  10. Otocephaly

    Directory of Open Access Journals (Sweden)

    Kwei-Shuai Hwang

    2007-07-01

    Full Text Available Otocephaly is a rare lethal syndrome of microstomia, aglossia, agnathia, and synotia. This male infant was born to a 19-year-old, gravida 1, para 0, woman who received routine prenatal check-up. Polyhydramnios, low-lying ears, and proboscis were noted by sonography at 29 weeks of gestation. Amniocentesis showed a normal karyotype of 46, XY. Premature rupture of membranes and preterm labor were noted at 32 weeks of gestation. A male infant was delivered preterm and died shortly after birth. The infant showed midline proboscis and absence of mandible. The simple, soft ears were extremely low-set and were near the midline of the neck. Otocephaly is regarded as the most severe form of first arch anomalies. Prenatal diagnosis should be dependent on ultrasound analysis. In the face of polyhydramnios, otocephaly is one of the possible fetal anomalies.

  11. [Non-invasive prenatal testing: challenges for future implementation].

    Science.gov (United States)

    Henneman, Lidewij; Page-Chrisiaens, G C M L Lieve; Oepkes, Dick

    2015-01-01

    The non-invasive prenatal test (NIPT) is an accurate and safe test in which blood from the pregnant woman is used to investigate if the unborn child possibly has trisomy 21 (Down's syndrome), trisomy 18 (Edwards' syndrome) or trisomy 13 (Patau syndrome). Since April 2014 the NIPT has been available in the Netherlands as part of the TRIDENT implementation project for those in whom the first trimester combined test showed an elevated risk (> 1:200) of trisomy, or on medical indication, as an alternative to chorionic villous sampling or amniocentesis. Since the introduction of the NIPT the use of these invasive tests, which are associated with a risk of miscarriage, has fallen steeply. The NIPT may replace the combined test. Also the number of conditions that is tested for can be increased. Modification of current prenatal screening will require extensive discussion, but whatever the modification, careful counseling remains essential to facilitate pregnant women's autonomous reproductive decision making.

  12. Prenatal Bowel Findings in Male Siblings With a Confirmed FOXP3 Mutation.

    Science.gov (United States)

    Griswold, Catherine; Durica, Allison R; Dennis, Larry G; Jewell, Ann F

    2018-04-01

    There are multiple etiologies for fetal dilated bowel loops on ultrasonography (US), and we present a unique case of male siblings with a forkhead box P3 (FOXP3) mutation. Both children presented with fetal bowel anomalies on prenatal US. Family histories of cystic fibrosis and immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome were reported. Amniocentesis in both pregnancies identified a normal male karyotype and the familial mutation associated with IPEX syndrome. IPEX syndrome is one of a group of conditions known as congenital diarrhea disorders. Other congenital diarrhea disorder cases have presented with similar prenatal US findings. As a result of these associations, we suggest considering IPEX syndrome as a potential cause of fetal bowel anomalies, particularly with a known family history. However, continued research into the phenotypic and genotypic correlations for IPEX syndrome is likely needed to better understand this possible prenatal presentation. © 2017 by the American Institute of Ultrasound in Medicine.

  13. Diagnóstico prenatal de mosaicismo 45,X/46,XX con presencia del gen SRY. Presentación de un caso

    OpenAIRE

    Pedro Alí Díaz-Véliz Jiménez; María Antonia Ocaña Gil; Leydi María Sosa Águila; Belkis Vidal Hernández

    2013-01-01

    El cariotipo más frecuente del Síndrome de Turner es 45,X, aunque también puede presentarse como mosaico 45,X/46,XX. En el Centro Provincial de Genética Médica de Cienfuegos se le realizó la amniocentesis a una gestante de 42 años de edad, detectándose un mosaico de Síndrome de Turner (45,X/46,XX). Por ultrasonido se diagnosticó un varón, por lo que se envió una muestra de líquido amniótico al Centro Nacional de Genética Médica para corroborarlo y se indicó realizar estudio del gen SRY, cuyo ...

  14. Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23.3-q24.11 and 8q24.13 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and haploinsufficiency of TRPS1, RAD21 and EXT1.

    Science.gov (United States)

    Chen, Chih-Ping; Lin, Ming-Huei; Chen, Yi-Yung; Chern, Schu-Rern; Chen, Yen-Ni; Wu, Peih-Shan; Pan, Chen-Wen; Lee, Meng-Shan; Wang, Wayseen

    2015-10-01

    The aim of this research was to present prenatal diagnosis of Langer-Giedion syndrome (LGS/TRPS type II) and Cornelia de Lange syndrome-4 (CDLS4). A 36-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Conventional cytogenetic analysis of amniocentesis revealed an interstitial deletion of chromosome 8q or del(8)(q23.3q24.13). Level II prenatal ultrasound examination revealed craniofacial dysmorphism. The pregnancy was terminated, and a malformed fetus was delivered with characteristic craniofacial dysmorphism of LGS/TRPS type II and CDLS4. Whole-genome array comparative genomic hybridization (aCGH) on the DNA extracted from cultured amniocytes was performed. The analysis by aCGH revealed a result of arr 8q23.3q24.11 (116,087,006-118,969,399)×1, 8q24.13 (123,086,851-124,470,847)×1 (NCBI build 37) with a 2.88-Mb deletion of 8q23.3-q24.11 encompassing six OMIM genes, TRPS1, EIF3H, RAD21, SLC30A8, MED30, and EXT1, and a 1.383-Mb deletion of 8q24.13 encompassing four OMIM genes, ZHX2, DERL1, ZHX1, and ATAD2. In the present case, the conventional cytogenetic analysis of cultured amniocytes revealed del(8)(q23.3q24.13), whereas aCGH analysis of cultured amniocytes showed the deletions of 8q23.3-q24.11 and 8q24.13 with the presence of the segment 8q24.12. Therefore, aCGH provides the advantage of better understanding of the nature of interstitial deletion and genotype-phenotype correlation in this case. Copyright © 2015. Published by Elsevier B.V.

  15. [Lamellar body count in amniotic fluid for assessing fetal lung maturity].

    Science.gov (United States)

    Visnjevac, Jovana; Novakov-Mikić, Aleksandra; Nikolić, Aleksandra; Visnjevac, Nemanja

    2010-01-01

    Respiratory distress syndrome (RDS) of the newborn infant caused by immaturity of fetal lung is a very serious clinical problem. Surfactant is stored in the form of lamellar bodies. They are secreted into alveolar space and passed into amniotic fluid where they can be found. The similarity of lamellar body size to platelet size permits the use of a standard automated hematologic cell counter to estimate the number of lamellar bodies in amniotic fluid. We conducted a prospective clinical study from 2005-2006 on amniotic fluid samples. Amniotic fluid samples were collected near delivery by transvaginal amniotomy, amniotomy during Cesarean section and 72 hours before delivery by amniocentesis. A hematology analyzer (Nikon-Kohden) was used to determine the lamellar body counts. After birth of newborns we compared their complete clinical examination results particularly emphasizing the prediction of the method of RDS by lamellar body count. Maximally specific lamellar body cutoffs for maturity and immaturity were determined using ROC curves. Of 232 amniotic fluid samples which were tested, 112 samples were collected by transvaginal amniotomy, 88 were taken during Cesarean delivery and 32 samples were collected by amniocentesis. The incidence of RDS was 14.6%. ROC curves were used to identify cut points for the test. We found that LBC is a good screening test for predicting fetal lung maturity with the area under the curve of 0.751. LBC cutoff of 42 x 10(3)/microl, with sensitivity of 82.4% and specificity of 64.6%, proved best for predicting fetal lung maturity. LBC is a good screening test for predicting fetal lung maturity. The advantages of LBC are speed, objectivity, low price, low sample volume required and universal availability.

  16. Frequency and clinical significance of short cervix in patients with preterm premature rupture of membranes.

    Directory of Open Access Journals (Sweden)

    Seung Mi Lee

    Full Text Available Cervical length measurement has been uggested as a useful tool for predicting intra-amniotic infection/inflammation in preterm labor, but little information is available in the setting of preterm premature rupture of membranes (pPROM. We aimed to determine whether a short cervical length is independently associated with an increased risk of intra-amniotic infection or inflammation and impending preterm delivery in women with pPROM.This was a retrospective cohort study involving 171 consecutive singleton pregnant women with pPROM (21+0-33+6 weeks' gestation, who underwent amniocentesis. Amniotic fluid (AF was cultured, and assayed for interleukin (IL-6 and IL-8. Cervical length was measured at the time of amniocentesis by transvaginal ultrasonography with an aseptic technique. Short cervical length was defined as a cervical length of ≤15 mm. Intra-amniotic infection was defined as a positive AF culture for microorganisms and intra-amniotic inflammation was defined as elevated AF concentrations of IL-6 or IL-8 (IL-6 ≥1.5 ng/mL and/or IL-8 ≥1.3 ng/mL.Fifty (29.2% women had a sonographic cervical length of ≤15mm. On univariate analysis, short cervical length was associated with an increased risk for intra-amniotic infection and/or inflammation; no other parameters studied showed a significant association. Multivariable analyses indicated that short cervical length was significantly associated with a higher risk of impending preterm delivery (within 2 days of measurement, within 7 days of measurement, and before 34 weeks, and remained significant after adjustment for potential confounders.In women with pPROM, short cervical length is associated with an increased risk for intra-amniotic infection/inflammation and associated with impending preterm delivery, independent of the presence of intra-amniotic infection/inflammation.

  17. Biology of insulin-like factor 3 in human reproduction.

    Science.gov (United States)

    Ivell, Richard; Anand-Ivell, Ravinder

    2009-01-01

    BACKGROUND Insulin-like factor 3 (INSL3) is a neohormone that has evolved to address specific mammalian traits, in particular, the first phase of testicular descent towards the scrotum during mid-gestation. METHODS A thorough literature search was made in PubMed using the terms INSL3, as well as the older synonyms RLF and Ley-IL. RESULTS INSL3 is a major secretory product of the testicular Leydig cells in the fetus and in adult men, and in rodent models, reduction in fetal INSL3 expression is an early marker of the testicular dysgenesis syndrome. In women, it is produced in lower amounts by ovarian theca and luteal cells, and circulating levels are increased in women with polycystic ovarian syndrome. During pregnancy, there is evidence for an interaction regulating the feto-placental unit. The presence of INSL3 in amniocentesis samples taken at 12-14 weeks gestation is absolutely specific for male gender, and levels are predictive of subsequent pre-eclampsia and/or birthweight. INSL3 is also involved in adult traits, such as spermatogenesis and bone metabolism. In adult men, INSL3 is constitutively expressed and secreted into the bloodstream at a constant level, reflecting the number and/or functional capacity of the Leydig cells. In complete contrast, testosterone is highly variable within individuals, is acutely responsive to fluctuations in the hypothalamic-pituitary-gonadal axis and appears to have marginal diagnostic value. INSL3 declines consistently with age in adult men. CONCLUSIONS INSL3 promises to become an important new diagnostic tool to characterize those men with late-onset hypogonadism and to add clinical diagnostic value at amniocentesis.

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

    Science.gov (United States)

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

    2011-12-01

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

  19. Operative vaginal delivery and invasive procedures in pregnancy among women living with HIV.

    Science.gov (United States)

    Peters, Helen; Francis, Kate; Harding, Kate; Tookey, Pat A; Thorne, Claire

    2017-03-01

    To describe the use and outcomes of operative delivery and invasive procedures in pregnancy amongst women living with HIV. The National Study of HIV in Pregnancy and Childhood (NSHPC) is a comprehensive population-based surveillance study in the UK and Ireland. The NSHPC has collected data on operative delivery since 2008, and invasive procedures in pregnancy (amniocentesis, cordocentesis, chorionic villus sampling) from 2012. Descriptive analyses were conducted on 278 pregnancies expected to deliver from 1 January 2008 with outcome reported to the NSHPC by 31 March 2016. Among 9372 pregnancies in 2008-2016, there were 9072 livebirths with 251 operative deliveries and 27 invasive procedures in pregnancy reported. Information was available for 3023/3490 vaginal deliveries, and use of forceps or vacuum reported in 251deliveries (8.2%), increasing over calendar time to almost 10% by 2014-16. Forceps were used twice as often as vacuum delivery, and forceps use increased over time. One infant delivered operatively is known to have acquired HIV. From 2012 there were 4063 pregnancies resulting in 3952 livebirths, 83 terminations and 28 stillbirths. 2163/4063 had information on use (or not) of invasive procedures in pregnancy. Amniocentesis was reported in 25/2163 pregnancies, there was one report of chorionic villus sampling and one of cordocentesis. There were no reported transmissions following invasive procedures in pregnancy. This is the largest study to date to report on operative delivery in women living with HIV on combined antiretroviral therapy (cART), and provides an up-to-date picture of invasive procedures during pregnancy in this group. Findings from this comprehensive national study are reassuring but numbers are currently low; on-going monitoring is crucial as obstetric care of women with HIV becomes normalised. Copyright © 2017 Elsevier B.V. All rights reserved.

  20. [Rapid karyotyping in the 2nd and 3rd trimester: results and experiences].

    Science.gov (United States)

    Claussen, U; Voigt, H J; Ulmer, R; Beinder, E

    1995-01-01

    Rapid karyotyping in the second and third trimester is an increasing field of collaboration between women's hospitals and human genetics. Techniques available for rapid karyotyping are: 1. Amniocentesis; to obtain amniotic fluid cells for culturing and subsequent chromosome harvesting using the pipette method or the "in situ" technique. The average time between preparation of the amniotic fluid and the verbal notification of the analysed karyotype is 4.65 days for the pipette method and 5.97 days for the "in situ" technique. The major advantages are that amniocentesis can be handled safely by many gynaecologist, and the amniotic fluid samples can be posted easily to cytogenetic units familiar with rapid karyotyping. The main disadvantage is that currently only a few laboratories are able to handle the pipette method or the "in situ" technique for rapid karyotyping. 2. Fetal blood sampling (cordocentesis); and subsequent chromosome analysis on cultivated fetal lymphocytes leading to results within 2 to 4 days. The main advantage of this procedure is the reliability of the results obtained. Fetal blood sampling, however, is restricted to specialists; this may involve scheduling delays. 3. Placental biopsy; with subsequent direct preparation and long term culturing. In comparison to both other techniques this procedure is faster if direct preparation is used. Results can be obtained even on the same day. The main disadvantage, however, is the problem with the reliability of the direct preparation results. They must be confirmed by time-consuming long-term culturing. Data are presented on the likelihood of abnormal ultrasound findings being caused by chromosomal aberrations.(ABSTRACT TRUNCATED AT 250 WORDS)

  1. Contribution of risk factors to extremely, very and moderately preterm births - register-based analysis of 1,390,742 singleton births.

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    Sari Räisänen

    Full Text Available Preterm birth, defined as birth occurring before 37 weeks gestation, is one of the most significant contributors to neonatal mortality and morbidity, with long-term adverse consequences for health, and cognitive outcome.The aim of the present study was to identify risk factors of preterm birth (≤36+6 weeks gestation among singleton births and to quantify the contribution of risk factors to socioeconomic disparities in preterm birth.A retrospective population-based case-control study using data derived from the Finnish Medical Birth Register. A total population of singleton births in Finland from 1987-2010 (n = 1,390,742 was reviewed.Among all singleton births (n = 1,390,742, 4.6% (n = 63,340 were preterm (<37 weeks, of which 0.3% (n = 4,452 were classed as extremely preterm, 0.4% (n = 6,213 very preterm and 3.8% (n = 54,177 moderately preterm. Smoking alone explained up to 33% of the variation in extremely, very and moderately preterm birth incidence between high and the low socioeconomic status (SES groups. Reproductive risk factors (placental abruption, placenta previa, major congenital anomaly, amniocentesis, chorionic villus biopsy, anemia, stillbirth, small for gestational age (SGA and fetal sex altogether explained 7.7-25.0% of the variation in preterm birth between SES groups.Smoking explained about one third of the variation in preterm birth groups between SES groups whereas the contribution of reproductive risk factors including placental abruption, placenta previa, major congenital anomaly, amniocentesis, chorionic villus biopsy, anemia, stillbirth, SGA and fetal sex was up to one fourth.

  2. Reproductive technologies and the private sector -- implications for women's health.

    Science.gov (United States)

    Baru, R V

    1993-02-01

    Many scientific and medical techniques exist to intervene and alter the natural process of pregnancy and childbirth. Examples include contraceptive techniques such as the contraceptive pill and IUDs, instrumental and caesarian deliveries, amniocentesis and ultrasound, in-vitro fertilization, test tube babies, and artificial wombs. These services are provided by governments and private medicare institutions. Little, however, is known about private sector involvement in this area except that the number of private facilities is increasing in both urban and rural areas of India, and that private facilities include clinics, nursing homes, diagnostic centers, and corporate hospitals for both inpatient and outpatient care. With practitioners enjoying wide latitude to recommend and carry out tests and services, unlimited profit-making potential exists. Nursing homes focus primarily upon pregnancy, childbirth, and family planning. 40% of nursing homes and corporate hospitals in Hyderabad had ultrasound testing facilities, while amniocentesis is conducted widely in private clinics and hospitals around the country. 84% of private gynecologists in Bombay conduct sex determination tests which often lead to the abortion of female fetuses. 73% of nursing homes in Delhi had an ultrasound machine, with 80% of facilities using the machines for sex determination testing. Concerns over the cost of raising and marrying off daughters lures clients to test the sex of fetuses and not carry females to term. Hospitals and clinics also capitalize upon the social stigma of marital infertility by promoting the treatment of infertility and in-vitro fertilization. Moreover, responding to government incentives to provide comprehensive family planning services, many private clinics and nursing homes claim to offer services even when they do not. Private nursing homes and clinics offer services to maximize profit. As public spending for programs continues to be slashed and the role of private

  3. Autologous Transplantation of Amniotic Fluid-Derived Mesenchymal Stem Cells into Sheep Fetuses.

    Science.gov (United States)

    Shaw, S W Steven; Bollini, Sveva; Nader, Khalil Abi; Gastaldello, Annalisa; Mehta, Vedanta; Filppi, Elisa; Cananzi, Mara; Gaspar, H Bobby; Qasim, Waseem; De Coppi, Paolo; David, Anna L

    2016-03-01

    Long-term engraftment and phenotype correction has been difficult to achieve in humans after in utero stem cell transplantation mainly because of allogeneic rejection. Autologous cells could be obtained during gestation from the amniotic fluid with minimal risk for the fetus and the mother. Using a sheep model, we explored the possibility of using amniotic fluid mesenchymal stem cells (AFMSCs) for autologous in utero stem cell/gene therapy. We collected amniotic fluid (AF) under ultrasound-guided amniocentesis in early gestation pregnant sheep ( n = 9, 58 days of gestation, term = 145 days). AFMSCs were isolated and expanded in all sampled fetal sheep. Those cells were transduced using an HIV vector encoding enhanced green fluorescent protein (GFP) with 63.2% (range 38.3-96.2%) transduction efficiency rate. After expansion, transduced AFMSCs were injected into the peritoneal cavity of each donor fetal sheep at 76 days under ultrasound guidance. One ewe miscarried twin fetuses after amniocentesis. Intraperitoneal injection was successful in the remaining 7 fetal sheep giving a 78% survival for the full procedure. Tissues were sampled at postmortem examination 2 weeks later. PCR analysis detected GFP-positive cells in fetal tissues including liver, heart, placenta, membrane, umbilical cord, adrenal gland, and muscle. GFP protein was detected in these tissues by Western blotting and further confirmed by cytofluorimetric and immunofluorescence analyses. This is the first demonstration of autologous stem cell transplantation in the fetus using AFMSCs. Autologous cells derived from AF showed widespread organ migration and could offer an alternative way to ameliorate prenatal congenital disease.

  4. Discordant circulating fetal DNA and subsequent cytogenetics reveal false negative, placental mosaic, and fetal mosaic cfDNA genotypes.

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    Lebo, Roger V; Novak, Robert W; Wolfe, Katherine; Michelson, Melonie; Robinson, Haynes; Mancuso, Melissa S

    2015-08-11

    The American College of Obstetrics and Gynecology (ACOG) and Maternal Fetal Medicine (MFM) Societies recommended that abnormal cfDNA fetal results should be confirmed by amniocentesis and karyotyping. Our results demonstrate that normal cfDNA results inconsistent with high-resolution abnormal ultrasounds should be confirmed by karyotyping following a substantial frequency of incorrect cfDNA results. Historical review of our ~4,000 signed prenatal karyotypes found ~24% of reported abnormalities would not have been detected by cfDNA. Akron Children's Hospital Cytogenetics Laboratory has completed 28 abnormal cfDNA cases among the 112 amniocenteses karyotyped. Following abnormal cfDNA results our karyotypes confirmed only 60% of the cfDNA results were consistent. Our cases found a normal cfDNA test result followed by a 20 weeks anatomical ultrasound detected a false negative trisomy 18 cfDNA result. One cfDNA result that reported trisomy 21 in the fetus was confirmed by karyotyping which also added an originally undetected balanced reciprocal translocation. Another reported karyotyped case followed by a repeated microarray of pure fetal DNA, together revealed one phenotypically normal newborn with a complex mosaic karyotype substantially decreasing the newborn's eventual reproductive fitness. This second case establishes the importance of karyotyping the placenta and cord or peripheral blood when inconsistent or mosaic results are identified following an abnormal cfDNA result with a normal newborn phenotype without a prenatal karyotype. These Maternal Fetal Medicine referrals demonstrate that positive NIPT results identify an increased abnormal karyotypic frequency as well as a substantial proportion of discordant fetal results. Our results found: (1) a normal NIPT test result followed by a 20 week anatomical ultrasound detected a false negative trisomy 18 NIPT result, (2) a substantial proportion of abnormal NIPT tests identify chromosomal mosaicism that may or

  5. Non-invasive prenatal testing for fetal aneuploidies in the first trimester of pregnancy.

    Science.gov (United States)

    Song, Y; Huang, S; Zhou, X; Jiang, Y; Qi, Q; Bian, X; Zhang, J; Yan, Y; Cram, D S; Liu, J

    2015-01-01

    To evaluate the feasibility of non-invasive prenatal testing (NIPT) of maternal plasma samples collected from pregnant Chinese women in early gestation, between 8 + 0 and 12 + 6 weeks' gestation. In this pilot study, 212 women with high-risk pregnancies were recruited at a single Chinese Hospital. Fetal aneuploidies associated with chromosomes 21, 18, 13, X and Y were detected by massively parallel sequencing of maternal plasma DNA samples. Invasive prenatal diagnosis by either chorionic villus sampling or amniocentesis and then karyotyping was offered to all women to confirm both positive and negative NIPT results. Fetal DNA fraction was also determined in male pregnancies, by the relative percentage of Y-chromosome sequences. All confirmed NIPT-negative pregnancies were followed up to birth and neonates were clinically evaluated for any symptoms of chromosomal disease. Autosomal aneuploidies trisomy 21 (n = 2), 18 (n = 1) and 13 (n = 1) were detected by NIPT and confirmed by amniocentesis and karyotyping. There were one false-positive 45,X sample and two false-negative samples associated with fetal karyotypes 47,XXY and 45,X[16]/47,XXX[14]. In the 100 male pregnancies, the median fetal DNA fraction was 8.54% and there was a trend towards an increasing fetal fraction from 8 + 0 to 12 + 6 weeks' gestation. The majority (95%) of pregnancies had a fetal DNA fraction > 4%, which is generally the limit for accurate aneuploidy detection by NIPT. Across this early gestational time period, there was a weak inverse relationship (R(2)  = 0.186) between fetal DNA fraction and maternal weight. NIPT is highly reliable and accurate when applied to maternal DNA samples collected from pregnant women in the first trimester between 8 + 0 and 12 + 6 weeks. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

  6. A prospective clinical trial to compare the performance of dried blood spots prenatal screening for Down's syndrome with conventional non-invasive testing technology.

    Science.gov (United States)

    Hu, Huiying; Jiang, Yulin; Zhang, Minghui; Liu, Shanying; Hao, Na; Zhou, Jing; Liu, Juntao; Zhang, Xiaojin; Ma, Liangkun

    2017-03-01

    To evaluate, side by side, the efficiency of dried blood spots (DBSs) against serum screening for Down's syndrome, and then, to construct a two-tier strategy by topping up the fetal cell-free DNA (cfDNA) secondary screening over the high-risk women marked by the primary blood testing to build a practical screening tactic to identify fetal Down's syndrome. One thousand eight hundred and thirty-seven low-risk Chinese women, with singleton pregnancy, were enrolled for the study. Alpha-fetoprotein and free beta human chorionic gonadotropin were measured for the serum as well as for the parallel DBS samples. Partial high-risk pregnant women identified by primary blood testing (n = 38) were also subject to the secondary cfDNA screening. Diagnostic amniocentesis was utilized to confirm the screening results. The true positive rate for Down's syndrome detection was 100% for both blood screening methods; however, the false-positive rate was 3.0% for DBS and 4.0% for serum screening, respectively. DBS correlated well with serum screening on Down's syndrome detection. Three out of 38 primary high-risk women displayed chromosomal abnormalities by cfDNA analysis, which were confirmed by amniocentesis. Either the true detection rate or the false-positive rate for Down's syndrome between DBS and the serum test is comparable. In addition, blood primary screening aligned with secondary cfDNA analysis, a "before and after" two-tier screening strategy, can massively decrease the false-positive rate, which, then, dramatically reduces the demand for invasive diagnostic operation. Impact statement Children born with Down's syndrome display a wide range of mental and physical disability. Currently, there is no effective treatment to ease the burden and anxiety of the Down's syndrome family and the surrounding society. This study is to evaluate the efficiency of dried blood spots against serum screening for Down's syndrome and to construct a two-tier strategy by topping up the fetal

  7. Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma

    Directory of Open Access Journals (Sweden)

    Gekas J

    2014-07-01

    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 Rousseau2,71Prenatal Diagnosis Unit, Department of Medical Genetics and Pediatrics, Faculty of Medicine, Laval University, Québec City, Quebec, Canada; 2Department of Medical Biology, Centre Hospitalier Universitaire de Québec, Québec City, Quebec, Canada; 3Department of Medical Genetics, University of British Columbia, Vancouver, Canada; 4Bioethics Program, Department of Social and Preventive Medicine, School of Public Health, University of Montreal, Montreal, Canada; 5Department of Obstetrics and Gynecology, Sainte Justine Hospital, Montreal, Canada; 6Department of Social and Preventive Medicine, 7Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Laval University, Québec City, Quebec, CanadaAbstract: Current prenatal diagnosis for fetal aneuploidies (including trisomy 21 [T21] generally relies on an initial biochemical serum-based noninvasive prenatal testing (NIPT after which women who are deemed to be at high risk are offered an invasive confirmatory test (amniocentesis or chorionic villi sampling for a fetal karyotype, which is associated with a risk of fetal miscarriage. Recently, genomics-based NIPT (gNIPT was proposed for the analysis of fetal genomic DNA circulating in maternal blood. The diffusion of this technology in routine prenatal care could be a major breakthrough in prenatal diagnosis, since initial research studies suggest that this novel approach could be very effective and could reduce substantially the number of invasive procedures. However, the limitations of gNIPT may be underappreciated. In this review, we examine currently published literature on gNIPT to highlight advantages and limitations. At this time, the performance of gNIPT is relatively well-documented only in high-risk pregnancies for T21 and trisomy 18. This additional screening test may be an

  8. [Performance of different methods of estimating risk screening for chromosomal anomalies].

    Science.gov (United States)

    Avătăjitei, Maria-Cristina; Moscalu, Mihaela; Martiniuc, Violeta; Onofriescu, M

    2012-01-01

    In the last 10 years, several studies have been carried out on additional ultrasound markers in the first trimester of pregnancy in order to improve detection rate of fetal numerical chromosome abnormalities (aneuploidy) and to reduce the rate of false-positive diagnosis. The purpose of this study was to evaluate the performance of various recommendations for which amniocentesis was performed followed by FISH testing in the diagnosis of aneuploidy. These evaluations were conducted in order to determine whether ultrasound aspects are associated with fetal aneuploidy and to estimate the risk level of individual markers using probability estimation analysis. The study has been carried out at the Clinical Hospital of Obstetrics and Gynecology "CuzaVodă" Iaşi, at the Laboratory of cytogenetic--prenatal diagnosis, during January 2004-December 2011, on a target group of 1406 pregnant women. As part of this study, 1411 amniocentesis were performed. increased efficiency of screening for fetal aneuploidy in the first trimester of pregnancy is obtained through combined method (maternal age over 35 years, increased nuchal translucency and the presence of double test risk) which has 100% detection rate and a rate false-positive result of 0%. The efficiency of this method is provided also by the relatively high risk (RR = 17.2) and its specificity (Sp = 100%). Making the assessment following the study false positive rate, it appears that a good method of risk assessment for aneuploidy is the combined evaluation of increased nuchal translucency (NT) with maternal age over 35 years (specificity 99.5%, a detection rate of 40% false positive rate of 0.45% and a relative risk of 7.09 for the presence of aneuploidy). The achievement of a correct prenatal diagnosis and the increase of the method efficiency, requires a correct selection of cases with aneuploidy risk assessment, based on the results of ultrasound and biochemical (double test risk) investigations correlated with

  9. Utilization of noninvasive prenatal testing: impact on referrals for diagnostic testing.

    Science.gov (United States)

    Williams, John; Rad, Steve; Beauchamp, Sarah; Ratousi, Dalar; Subramaniam, Vaishnavi; Farivar, Sayeh; Pisarska, Margareta D

    2015-07-01

    Since the introduction of noninvasive prenatal testing (NIPT), a marked decrease in prenatal diagnostic testing (chorionic villus sampling [CVS] and amniocentesis) has been observed with unknown potential effects on genetic diagnosis of these pregnancies. The purpose of this study was to understand the impact of NIPT on genetics counseling referrals, diagnostic testing with CVS/amniocentesis, and appropriate use of NIPT. A retrospective cohort study was performed on all women referred for genetic counseling and prenatal testing during the 2 years preceding the introduction of NIPT (pre-NIPT) and 2 years following (post-NIPT). The primary outcome was the difference in the number of women referred for genetic counseling and prenatal diagnosis during the pre-NIPT period compared with the post-NIPT period. The secondary outcome was the difference in the number of women referred who were not considered candidates for NIPT between the 2 study periods. There was a statistically significant reduction in the number of referrals for genetic counseling and diagnostic testing in the post-NIPT compared with the pre-NIPT period (2824 vs 3944, P = .001), a reduction of 28.4%. During the post-NIPT period there was a significant reduction in referrals of women who would not be candidates for NIPT (467 pre-NIPT vs 285 post-NIPT, P = .043). In women who had diagnostic testing with CVS during the study period, 32.4% of the aneuploidies identified would not have been detected by NIPT. There was a significant reduction in the number of patients referred for genetic counseling and prenatal diagnosis following the introduction of NIPT. In addition, there was a significant reduction in the number of patients referred for counseling and testing who would not be candidates for NIPT. This suggests that an increasing number of potential patients are being offered NIPT screening instead of diagnostic testing, including those at risk for fetal single gene disorders and aneuploidies not

  10. Contagem de corpos lamelares versus teste de Clements na avaliação da maturidade pulmonar fetal em gestantes diabéticas Lamellar body count versus the shake test in the assessment of fetal lung maturity in diabetics

    Directory of Open Access Journals (Sweden)

    Guilherme Loureiro Fernandes

    2006-08-01

    Full Text Available OBJETIVOS: analisar a contagem dos corpos lamelares em comparação com o teste de Clements na avaliação da maturidade pulmonar fetal em gestantes diabéticas. MÉTODOS: estudo prospectivo envolvendo 62 gestantes submetidas a amniocentese entre a 26ª e a 39ª semana. O líquido amniótico foi imediatamente submetido ao teste de Clements e à contagem de corpos lamelares. Os partos ocorreram até três dias após a amniocentese. A ocorrência de síndrome de angústia respiratória, indicativa de imaturidade pulmonar, foi confrontada com os resultados de imaturidade da amniocentese (ausência de anel completo no 3º tubo e menos de 50.000 corpos lamelares. O teste do chi2 foi utilizado para comparar o desempenho dos dois métodos e pPURPOSE: to assess the performance of lamellar body count compared to the shake (Clements test in the prediction of fetal lung maturity in diabetics. METHODS: prospective study of 62 patients who underwent amniocentesis between the 26th and 39th week of pregnancy. Immediately after collection, the amniotic fluid sample was submitted to the shake test and lamellar body count. Deliveries occurred within three days of amniocentesis. Immature test results (absence of a complete bubble ring in the third tube for the shake test and less than 50,000 lamellar bodies were confronted with the occurrence of pulmonary immaturity in the neonate (respiratory distress syndrome. The performance of both tests was compared using the chi2 test and p<0.05 was considered to be significant. RESULTS: seven infants had respiratory distress syndrome (11.3%. The lamellar body count and shake test were similar regarding sensitivity (100 vs 71.4%, respectively and negative predictive value (100 vs 93.5%. Lamellar body count was superior as regards specificity (87.3 vs 52.7%, p=0.0001, positive predictive value (50 vs 16.1%, p=0.017, and accuracy (88.7 vs 54.8%, p<0.001. CONCLUSIONS: lamellar body count is a simple and accurate method of

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

    Science.gov (United States)

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

    2013-09-01

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

  12. Mutation analysis of GJB2 gene and prenatal diagnosis in a non-syndromic deafness family

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    Xiao-hua CHEN

    2014-08-01

    Full Text Available Objective To identify the pathogenic gene in a non-syndromic deafness family, provide an accurate genetic consultation and early intervention for deaf family to reduce the incidence of congenital deafness. Methods Mutation analysis was carried out by polymerase chain reaction followed by DNA sequencing of coding region of GJB2 gene. The fetal DNA was extracted from the amniotic fluid cells by amniocentesis at 20 weeks during pregnancy. The genotype of the fetus was characterized for predicting the status of hearing. Results Complex heterozygous mutations 235delC and 176-191del16bp were detected in the proband of the family, heterozygous mutation 176-191del16bp was detected in the father, and 235delC was detected in the mother. Fetus carried 235delC heterozygous mutation inherited from his mother. Conclusions The proband's hearing loss is resulted from the complex heterozygous mutations 235delC and 176-191del16bp in GJB2 gene. Fetus is a heterozygous mutation 235delC carrier. Prenatal diagnosis for deafness assisted by genetic test can provide efficient guidance about offspring's hearing condition, and prevent another deaf-mute member from birth. DOI: 10.11855/j.issn.0577-7402.2014.07.09

  13. Phytoestrogens in Human Pregnancy

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    John Jarrell

    2012-01-01

    Full Text Available Background. The hormonal milieu associated with pregnancy has become a focus of interest owing to potential links with the developmental origins of health and disease. Phytoestrogens are hormonally active plant-derived chemicals that may have an impact on human reproductive processes. However, developmental exposure to phytoestrogens has not been well characterized and thus our objective was to quantify phytoestrogen exposure during pregnancy and lactation. Methods. Women in the second trimester of pregnancy entered the study during counseling for prenatal genetic information. Women who had an indication for a genetic amniocentesis on the basis of late maternal age were approached for inclusion. They completed an environmental questionnaire; a sample of amniotic fluid was collected for karyotype, blood was collected from women during pregnancy and at birth, from the umbilical cord and breast milk. Samples were tested for the presence of daidzein and genistein by GC Mass Spectroscopy. Findings. Phytoestrogens are commonly found in pregnant women’s serum and amniotic fluid during pregnancy. There is a sex difference in the concentrations with higher levels in amniotic fluid containing female fetuses. This difference was not present in maternal serum. Soy ingestion increases amniotic fluid phytoestrogen concentrations in female and male fetuses. The presence and concentrations of phytoestrogens did not differ in relation to common pregnancy complications or preexisting infertility.

  14. Liveborn with both partial trisomy of 3q and partial monosomy of 9p

    Energy Technology Data Exchange (ETDEWEB)

    Farren-Chavez, D.M.; Guzman, E.R. [UMDNJ-Robert Wood Johnson Medical School and St. Peter`s Medical Center, New Brunswich, NJ (United States); Peters, T.L. [Duke Univ., Durham, NC (United States)] [and others

    1994-09-01

    A 32-year-old G{sub 3}P{sub 2002} Hispanic female presented at 14 weeks gestation for routine dating ultrasound. At that time ultrasonography revealed a septated cystic hygroma, omphalocele, bilateral talipes equinovarus, and hydrops. Amniocentesis was performed at 15 weeks and revealed a 46,XX,9p+ chromosome complement. The origin of the extra material on the terminal short arm of chromosome 9 could not be identified. Chromosome analysis was performed on the parents and the mother was found to carry the balanced translocation 46,XX,p(3;9)(q23;p13). Further analysis revealed that the fetus had inherited the derivative 9 chromosome. The fetus was therefore monosomic for 9p13-9pter and trisomic for 3q23-3pter. The patient chose to continue the pregnancy. Serial ultrasonography later demonstrated a sloping forehead, small nose, micrognathia, ventriculomegaly, possible VSD, micropenis, hypospadias, cryptorchidism and post-axial polydactyly of the hands. The fetus was delivered prematurely at 31 weeks and survived one hour. Post-mortem examination confirmed the ultrasound findings and revealed additional stigmata consistent with both 9p monosomy and 3q trisomy. A review of the literature indicates no previous report of both syndromes concurrently.

  15. Hemolytic disease of the newborn associated with anti-Jra alloimmunization in a twin pregnancy: the first case report in Korea.

    Science.gov (United States)

    Kim, Hyungsuk; Park, Min-Jeong; Sung, Tae-Jung; Choi, Ji Seon; Hyun, Jungwon; Park, Kyoung Un; Han, Kyou-Sup

    2010-10-01

    Jr(a) is a high-frequency antigen found in all ethnic groups. However, the clinical significance of the anti-Jr(a) antibody has remained controversial. Most studies have reported mild hemolytic disease of the newborn and fetus (HDNF) in Jr(a)-positive patients. Recently, fatal cases of HDNF have also been reported. We report the first case of HDNF caused by anti-Jr(a) alloimmunization in twins in Korea. A 33-yr-old nulliparous woman with no history of transfusion or amniocentesis was admitted at the 32nd week of gestation because of vaginal bleeding caused by placenta previa. Anti-Jr(a) antibodies were detected in a routine laboratory examination. An emergency cesarean section was performed at the 34th week of gestation, and 2 premature infant twins were delivered. Laboratory examination showed positive direct antiglobulin test and Jr(a+) phenotype in the red blood cells and the presence of anti-Jr(a) antibodies in the serum in both neonates. The infants underwent phototherapy for neonatal jaundice; this was followed by conservative management. They showed no further complications and were discharged on the 19th postpartum day. Preparative management to ensure the availability of Jr(a-) blood, via autologous donation, and close fetal monitoring must be performed even in cases of first pregnancy in Jr(a-) women.

  16. Prenatal diagnosis--discrimination, deliverance or democracy?

    Science.gov (United States)

    Bradfield, Owen

    2003-07-01

    Prenatal diagnosis utilizes invasive procedures such as amniocentesis, chorionic villus sampling, cord blood sampling and pre-implantation genetic diagnosis. These techniques can diagnose serious foetal illnesses and this therefore provides valuable information to couples, helping them to prepare for the birth of an affected child. It also affords women the freedom to decide whether to terminate a pregnancy. The selective termination of foetuses with serious disabilities does not represent disability discrimination because women and parents are actually rejecting the disability, rather than the foetus itself. More significantly, the choice to abort a foetus with a serious illness or disability is an intensely private and personal exercise that does not and cannot be reflective of a wider public morality. Exactly the same can be said of the choice to selectively abort foetuses based solely on their sex. The private choice of women in this respect does not amount to the social devaluation of women. Firstly, it is an erroneous assumption that women in Australia prefer male babies. Secondly, even if there is a preference for male babies, banning prenatal sex selection would be treating just one of many symptoms of sexism, rather than curing the primary causes. The moral right of all women to reproductive freedom is an embodiment of their equal value in society.

  17. Why are autism spectrum conditions more prevalent in males?

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    Simon Baron-Cohen

    2011-06-01

    Full Text Available Autism Spectrum Conditions (ASC are much more common in males, a bias that may offer clues to the etiology of this condition. Although the cause of this bias remains a mystery, we argue that it occurs because ASC is an extreme manifestation of the male brain. The extreme male brain (EMB theory, first proposed in 1997, is an extension of the Empathizing-Systemizing (E-S theory of typical sex differences that proposes that females on average have a stronger drive to empathize while males on average have a stronger drive to systemize. In this first major update since 2005, we describe some of the evidence relating to the EMB theory of ASC and consider how typical sex differences in brain structure may be relevant to ASC. One possible biological mechanism to account for the male bias is the effect of fetal testosterone (fT. We also consider alternative biological theories, the X and Y chromosome theories, and the reduced autosomal penetrance theory. None of these theories has yet been fully confirmed or refuted, though the weight of evidence in favor of the fT theory is growing from converging sources (longitudinal amniocentesis studies from pregnancy to age 10 years old, current hormone studies, and genetic association studies of SNPs in the sex steroid pathways. Ultimately, as these theories are not mutually exclusive and ASC is multi-factorial, they may help explain the male prevalence of ASC.

  18. Epidemiology of fertility treatment use among U.S. women with liveborn infants, 1997-2004.

    Science.gov (United States)

    Duwe, Kara N; Reefhuis, Jennita; Honein, Margaret A; Schieve, Laura A; Rasmussen, Sonja A

    2010-03-01

    This study assessed reported use of assisted reproductive technology (ART) and other (non-ART) fertility treatments among a population-based sample and examined factors related to use. The data for this study were collected as part of the National Birth Defects Prevention Study (NBDPS), limited to women from the control group who delivered liveborn infants with no major birth defects. We described prevalence of the use of ART and clomiphene citrate (the most commonly used non-ART treatment) by demographic and lifestyle factors and examined associations among use of fertility treatments and pregnancy outcomes, timing of prenatal care initiation, and use of prenatal testing technologies. Overall, 4.2% of women reported any type of maternal fertility treatment use; 1.0% reported ART use, 1.6% reported clomiphene citrate use without ART, and 1.7% reported other fertility treatments. Women who reported any fertility treatment type were more likely than women with an unassisted conception to be non-Hispanic white, >30 years of age, and more highly educated. Overall, women who reported ART use were more likely than women who reported unassisted pregnancy to have an amniocentesis; however, this association was no longer evident after adjustment for maternal age. Fertility treatment use and type of treatment vary by maternal characteristics. This information may be useful to inform a broad maternal and child health audience about the growing use of fertility treatments, including who is using the treatments and the choices they are making about prenatal care.

  19. Glial cell line-derived neurotrophic factor induced the differentiation of amniotic fluid-derived stem cells into vascular endothelial-like cells in vitro.

    Science.gov (United States)

    Zhang, Ruyu; Lu, Ying; Li, Ju; Wang, Jia; Liu, Caixia; Gao, Fang; Sun, Dong

    2016-02-01

    Amniotic fluid-derived stem cells (AFSCs) are a novel source of stem cells that are isolated and cultured from second trimester amniocentesis. Glial cell line-derived neurotrophic factor (GDNF) acts as a tissue morphogen and regulates stem cell proliferation and differentiation. This study investigated the effect of an adenovirus-mediated GDNF gene, which was engineered into AFSCs, on the cells' biological properties and whether GDNF in combination with AFSCs can be directionally differentiated into vascular endothelial-like cells in vitro. AFSCs were isolated and cultured using the plastic adherence method in vitro and identified by the transcription factor Oct-4, which is the primary marker of pluripotent stem cells. AFSCs were efficiently transfected by a GFP-labeled plasmid system of an adenovirus vector carrying the GDNF gene (Ad-GDNF-GFP). Transfected AFSCs stably expressed GDNF. Transfected AFSCs were cultured in endothelial growth medium-2 containing vascular endothelial growth factor. After 1 week, AFSCs were positive for von Willebrand factor (vWF) and CD31, which are markers of endothelial cells, and the recombinant GDNF group was significantly higher than undifferentiated controls and the GFP only group. These results demonstrated that AFSCs differentiated into vascular endothelial-like cells in vitro, and recombinant GDNF promoted differentiation. The differentiation-induced AFSCs may be used as seed cells to provide a new manner of cell and gene therapies for transplantation into the vascular injury site to promote angiogenesis.

  20. Girl child: her rights and law.

    Science.gov (United States)

    Gokhale, S D

    1995-01-01

    This article points out the disparity between India's laws to protect female children and their actual living conditions. It is asserted that the role of women needs to be strengthened and that equal rights are executed to the advantage of children. Equality must come at the very beginning of life. Girl children need access to health, nutrition, education, and other basic services. In India, girls are guaranteed an equal right to education, but fewer girls are enrolled in primary school, and very few girls go on to secondary schools. There is no enforcement of compulsory laws, which particularly disadvantage girls from poor families. Girls marry below the legal minimum age. Early childbearing shortens women's life expectancy and adversely affects their health, nutrition, education, and employment opportunities. Prevention of early child marriage should be strictly enforced. Amniocentesis is performed in order to determine the sex of the child and abort female fetuses. The Juvenile Justice Act of 1986 includes special provisions for the protection, treatment, and rehabilitation of girls under 18 years old and of boys younger than 16. This act protects girls trapped in brothels for child prostitution and protects any person engaged in an immoral, drunken, or depraved life. Juvenile Welfare Boards address the problem of neglected girls and offer special protective homes and supervision by probation officers. The act needs to strengthen noninstitutional services, such as sponsorship, family assistance, foster care, and adoption. Girl children grow to womanhood. Effective social development in childhood reaps rewards in adulthood.

  1. Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 22 associated with cat eye syndrome.

    Science.gov (United States)

    Chen, Chih-Ping; Ko, Tsang-Ming; Chen, Yi-Yung; Su, Jun-Wei; Wang, Wayseen

    2013-09-15

    We present prenatal diagnosis of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 22 associated with cat eye syndrome (CES) using cultured amniocytes in a pregnancy with fetal microcephaly, intrauterine growth restriction, left renal hypoplasia, total anomalous pulmonary venous return with dominant right heart and right ear deformity. The sSMC was bisatellited and dicentric, and was characterized by multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (aCGH). The SALSA MLPA P250-B1 DiGeorge Probemix showed duplication of gene dosage in the CES region. aCGH showed a 1.26-Mb duplication at 22q11.1-q11.21 encompassing CECR1-CECR7. The sSMC was likely inv dup(22) (q11.21). Prenatal diagnosis of an sSMC(22) at amniocentesis should alert CES. MLPA, aCGH and fetal ultrasound are useful for rapid diagnosis of CES in case of prenatally detected sSMC(22). Copyright © 2013 Elsevier B.V. All rights reserved.

  2. Red blood cell alloimmunization in pregnancy.

    Science.gov (United States)

    Moise, Kenneth J

    2005-07-01

    Red blood cell (RBC) alloimmunization in pregnancy continues to occur despite the widespread use of both antenatal and postpartum Rhesus immune globulin (RhIG), due mainly to inadvertent omissions in administration as well as antenatal sensitization prior to RhIG given at 28 weeks' gestation. Additional instances are attributable to the lack of immune globulins to other RBC antigens. Evaluation of the alloimmunized pregnancy begins with the maternal titer. Once a critical value [32 for anti-Rh(D) and other irregular antibodies; 8 for anti-K and -k] is reached, fetal surveillance using serial Doppler ultrasound measurements of the peak velocity in the fetal middle cerebral artery (MCA) is standard. In the case of a heterozygous paternal phenotype, amniocentesis can be performed to detect the antigen-negative fetus that requires no further evaluation. MCA velocities greater than 1.5 multiples of the median necessitate cordocentesis, and if fetal anemia is detected, intrauterine transfusion therapy is initiated. A perinatal survival of greater than 85% with normal neurologic outcome is now expected. Future therapies will target specific immune manipulations in the pregnant patient.

  3. The first 3,000 Non-Invasive Prenatal Tests (NIPT) with the Harmony test in Belgium and the Netherlands.

    Science.gov (United States)

    Willems, P J; Dierickx, H; Vandenakker, Es; Bekedam, D; Segers, N; Deboulle, K; Vereecken, A

    2014-01-01

    As the classical first trimester Down syndrome screening (FTS, combination test) has a false-negative rate of 20-25% and > 95% of the abnormal FTS results are false-positive, we evaluated the new Non-Invasive Prenatal Test (NIPT) in Belgium and the Netherlands. The study population consisted of 3000 consecutive pregnancies in Belgium and the Netherlands in which NIPT was performed using the Harmony test. In 57 (1.9%) of the 3000 pregnancies an abnormal NIPT result was found. This included 51 fetuses with trisomy 21, 4 fetuses with trisomy 18 and 2 fetuses with trisomy 13. In 47 of the 57 the NIPT result was confirmed by genetic testing of material obtained by amniocentesis or chorionic biopsy, and no false-positive results were recorded. The false-negative rate as determined on more than 2000 women that had delivered at the time of reporting was low, and so far only 2 false-negative results were reported (one trisomy 18 and one trisomy 21). The failure rate where no NIPT result could be obtained after repeated sampling was 0.90%. In this large clinical series, NIPT using the Harmony test proves to be a very reliable prenatal test to detect fetal trisomies 21, 18 and 13 in maternal blood in Belgium and the Netherlands.

  4. Prenatal Diagnosis of a Fetus with Ring Chromosomal 15 by Two- and Three-Dimensional Ultrasonography

    Directory of Open Access Journals (Sweden)

    Ingrid Schwach Werneck Britto

    2014-01-01

    Full Text Available We report on a prenatal diagnosis of ring chromosome 15 in a fetus with left congenital diaphragmatic hernia (CDH and severe intrauterine growth restriction (IUGR. A 31-year-old woman, gravida 2 para 1, was referred because of increased nuchal translucency at gestational age of 13 weeks. Comprehensive fetal ultrasound examination was performed at 19 weeks revealing an early onset IUGR, left CDH with liver herniation, and hypoplastic nasal bone. Three-dimensional ultrasound (rendering mode showed low set ears and depressed nasal bridge. Amniocentesis was performed with a result of a 46,XX,r(15 fetus after a cytogenetic study. A 1,430 g infant (less than third percentile was born at 36 weeks. The infant presented with respiratory failure and died at 2 h of life. Postnatal karyotype from the umbilical cord confirmed the diagnosis of 15-ring chromosome. We described the main prenatal 2D- and 3D-ultrasound findings associated with ring chromosome 15. The interest in reporting the present case is that CDH can be associated with the diagnosis of 15-ring chromosome because the critical location of the normal diaphragm development is at chromosome 15q26.1-q26.2.

  5. Influence of Second-Trimester Ultrasound Markers for Down Syndrome in Pregnant Women of Advanced Maternal Age

    Directory of Open Access Journals (Sweden)

    Mariza Rumi Kataguiri

    2014-01-01

    Full Text Available The objective of the present study was to evaluate the influence of second-trimester ultrasound markers on the incidence of Down syndrome among pregnant women of advanced maternal age. This was a retrospective cohort study on 889 singleton pregnancies between the 14th and 30th weeks, with maternal age ≥ 35 years, which would undergo genetic amniocentesis. The second-trimester ultrasound assessed the following markers: increased nuchal fold thickness, cardiac hyperechogenic focus, mild ventriculomegaly, choroid plexus cysts, uni- or bilateral renal pyelectasis, intestinal hyperechogenicity, single umbilical artery, short femur and humerus length, hand/foot alterations, structural fetal malformation, and congenital heart disease. To investigate differences between the groups with and without markers, nonparametric tests consisting of the chi-square test or Fisher’s exact test were used. Moreover, odds ratios with their respective 95% confidence intervals were calculated. Out of the 889 pregnant women, 131 (17.3% presented markers and 758 (82.7% did not present markers on the second-trimester ultrasound. Increased nuchal fold (P<0.001 and structural malformation (P<0.001 were the markers most associated with Down syndrome. The presence of one marker increased the relative risk 10.5-fold, while the presence of two or more markers increased the risk 13.5-fold. The presence of markers on the second-trimester ultrasound, especially thickened nuchal fold and structural malformation, increased the risk of Down syndrome among pregnant women with advanced maternal age.

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

    Science.gov (United States)

    Gürel, Sebahat Atar

    2015-04-01

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

  7. Preimplantation genetic diagnosis: its role in prevention of deafness.

    Science.gov (United States)

    Taneja, M K

    2014-01-01

    Deafness is a global problem. In India deafness ranges from 4 % in urban to 11 % in rural and slum areas, out of which 50 % is conductive hearing loss hence curable. Genetic transmission accounts for 50 % of the cases of congenital deafness, and of these, around 30 % are syndromic and 70 % are non-syndromic. Genetic counseling is going to make aware the parents of all appropriate treatments. Preimplantation genetic diagnosis can help to have a baby free from genetic deafness. Procedure is almost safe, harmless, non-invasive and ethically acceptable. While Amniocentesis is a non-invasive method, prenatal genetic testing through Chorionic villous sampling is invasive. The connexin 26 (CX26W 24X) mutations are the most common cause of non-syndromic hearing loss and easy to identify by polymerase chain reaction. There is always co-morbidity after cochlear implantation and the person remains handicapped while baby after PGD shall be having healthy normal life and person prone to environmental factors may be counseled and guided to prevent deafness in next generation. Public must be made aware of noise pollution, tobacco toxicity and consanguinity. The Obstetrician and Pediatrician apart from ENT surgeon should be involved to prevent antenatal or neonatal deafness.

  8. Evidence mounts for sex-selective abortion in Asia.

    Science.gov (United States)

    Westley, S B

    1995-01-01

    In Korea, China, and Taiwan--countries where son preference persists--the availability of prenatal screening techniques and induced abortion has produced an imbalance in the naturally occurring sex ratios of 104-107 male births for every 100 female births. Policy responses to sex-selective abortion were the focus of a 1994 International Symposium on Sex Preference for Children in the Rapidly Changing Demographic Dynamics in Asia sponsored by the United Nations Population Fund and the Government of the Republic of Korea. Modern technology (i.e., amniocentesis, ultrasound, and chorionic villi sampling) enables couples to control both family size and sex selection. According to data from the 1990 Korean Census, 80,000 female fetuses were aborted from 1986-90 as a result of son preference. In the late 1980s, the Governments of Korea, China, and India imposed bans on the use of medical technology for prenatal sex determination, but many observers maintain that regulations have served only to make the procedures clandestine and more expensive. To remedy the problems underlying sex-selective abortion, the Symposium recommended the following government actions: 1) implement policies and programs to diminish gender discrimination; 2) establish guidelines for the monitoring and regulation of prenatal testing; 3) utilize mass and folk media, interpersonal channels, and school curricula to promote gender equality; 4) strengthen the ethics curriculum of medical schools to address son preference; and 5) increase the capability of statistical and research organizations to collect gender-disaggregated data.

  9. Hereditary pancreatitis associated with a balanced translocation (5q;11p)

    Energy Technology Data Exchange (ETDEWEB)

    Dasouki, J.J.; Summar, M.L.; Mixon, C. [Vanderbilt Univ. Medical Center and Cytogenetics Lab Inc., Nashville, TN (United States)

    1994-09-01

    Dominantly inherited pancreatitis was first described by Comfort and Steinberg in 1952. It is estimated to account for <1% of all childhood pancreatitis cases. Patients as young as 17 months of age were reported. Presentation varies from acute abdominal pain mimicking familial Mediterranean fever to more chronic steatorrhea causing malabsorption. Urinary excretion of cystine in both affected and unaffected family members is an unexplained feature. Our 37 year old, G{sub 1}P{sub 0{minus}1} proband is known to have familial pancreatitis which complicated her current pregnancy. Family history was also positive in her mother and a sister who has a 12 year old daughter with recurrent abdominal pain. The proband sought genetic counselling because her amniocentesis showed a male fetus with an apparently balanced reciprocal translocation: t(5;11)(q13;p15). A detailed fetal ultrasound examination failed to show any abnormality. On chromosomal analysis, the proband was found to have a similar translocation. Her plasma aminogram was normal, however the spot and 24 hour urine aminograms demonstrated generalized aminoaciduria. This is the first report of hereditary pancreatitis with a segregating balanced autosomal translocation which may be etiologically important. In addition, unlike what was described previously, the aminoaciduria was generalized and nonspecific. Molecular analysis of the genes located in the breakpoint region may prove to be helpful in identifying the responsible gene and the delineation of the pathogenesis of this developmental disorder.

  10. Accuracy Assessment of Interphase Fluorescence In-Situ Hybridization on Uncultured Amniotic Fluid Cells

    Directory of Open Access Journals (Sweden)

    Hamideh Karimi

    2007-01-01

    Full Text Available Background: Parental anxiety while waiting for the results of amniocentesis has been investigatedby many authors. It seems that the implementation of faster techniques such as fluorescence in-situhybridization (FISH will have some benefits in reducing this anxiety. Besides the patients' attitudesto choosing this method, gynecologists who are the persons responsible for treatment, must feelcomfortable about prescribing FISH techniques.Materials and Methods: This study, using a simple methodology, was undertaken to evaluate theresults of FISH tests on the amniotic fluid from 40 pregnant women undergoing cesarean surgery.Two sets of probes including X/Y cocktail and 13, 21 and 18 were applied on different slides.Results: The results of FISH tests were compared with the reports of the pediatrician about thehealth condition of the newborn. Complete conformity between the two sets of findings, haveconvinced our gynecologists of the benefit of prescribing this method to reduce the anxiety ofpatients at risk of having abnormal offspring due to chromosomal anuploidies.Conclusion: As has been documented by many authors, conventional chromosome analysis hasgreat advantages over fluorescence in situ hybridization of interphase amniocytes, but reducing theanxiety of parents is a good reason for employing the FISH technique.

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

    Science.gov (United States)

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

    2013-01-01

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

  12. Clinical, cytogenetic and molecular investigation in a fetus with Wolf-Hirschhorn syndrome with paternally derived 4p deletion. Case report and review of the literature.

    Science.gov (United States)

    Dietze, Ilona; Fritz, Barbara; Huhle, Dagmar; Simoens, Wouter; Piecha, Ernestine; Rehder, Helga

    2004-01-01

    Wolf-Hirschhorn (4p-) syndrome (WHS), caused by partial deletion of the short arm of chromosome 4, has been extensively described in children and young adults. Knowledge on fetuses with WHS is still limited due to the small number of published cases. We report on a fetus with prenatally diagnosed severe intrauterine growth retardation, reduced thoracal diameter, clubfeet deformity and midface hypoplasia including slight microretrognathia indicative for fetal karyotyping. Chromosome analysis after amniocentesis revealed a de novo terminal deletion of chromosome 4p [karyotype: 46,XX,del(4) (p16)] which was confirmed by FISH. Analyses of a set of polymorphic markers mapping in 4pter->4p15.3 showed absence of paternal haplotypes. These observations corroborate the preferential paternal origin of the de novo 4p deletion in WHS patients. Furthermore, the distal breakpoint could be narrowed to band 4p16.1. At autopsy, the fetus showed typical craniofacial dysmorphic signs of WHS, severe IUGR and delayed bone age. This report suggests the possibility of recognising the particular phenotype of WHS in utero by prenatal ultrasound and emphasises the importance of karyotyping fetuses with severe IUGR, especially when the amount of amniotic fluid is normal. Copyright 2004 S. Karger AG, Basel

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

    Science.gov (United States)

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

    2005-06-01

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

  14. Prenatal diagnosis of trisomy 4p: a new locus for holoprosencephaly?

    Science.gov (United States)

    Karmous-Benailly, Houda; Tabet, Anne-Claude; Thaly, Adeline; Dupuy, Olivier; Huten, Yolène; Luton, Dominique; Baumann, Clarisse; Delezoide, Anne-Lise

    2005-03-01

    Trisomy of the short arm of chromosome 4 is a well-known syndrome, and several observations have been made in the last 30 years. Herein, we report a new observation of trisomy 4p in a fetus with a semi-lobar holoprosencephaly (HPE), dysmorphic features and multiple malformations. The diagnosis of HPE was made, at 33 weeks' gestation, on the fetus of a healthy G1P0 woman. Amniocentesis was performed for chromosome analysis and additional material was found on a chromosome 22. The couple elected to terminate the pregnancy and fetal examination was realized. Conventional and molecular cytogenetic studies were performed on the fetus and the parents, which showed that the additional material found on one chromosome 22 corresponded to the short arm of chromosome 4 and therefore led us to establish a diagnosis of trisomy 4p inherited from the malsegregation of a paternal translocation t(4;22)(q12;q11.1). The etiology of HPE is very heterogeneous; it includes non-genetic factors such as maternal diabetes and genetic causes. HPE cases have been described in association with many chromosomal anomalies, trisomy 13 being the most frequent. However, to our knowledge, HPE has never been previously reported in association with a trisomy involving solely the short arm of chromosome 4. Copyright 2005 John Wiley & Sons, Ltd.

  15. Universal Prenatal Chromosomal Microarray Analysis: Additive Value and Clinical Dilemmas in Fetuses with a Normal Karyotype.

    Science.gov (United States)

    Bornstein, Eran; Berger, Sharon; Cheung, Sau W; Maliszewski, Kristen T; Patel, Ankita; Pursley, Amber N; Lenchner, Erez; Bacino, Carlos; Beaudet, Arthur L; Divon, Michael Y

    2017-03-01

    Objective  To assess the additive value of prenatal chromosomal microarray analysis (CMA) for all indications and the likelihood of detecting pathologic copy number variations (CNVs) based on specific indications. Methods  A retrospective analysis was performed on amniocentesis and chorionic villi sampling results obtained between 2010 and 2014 in a single institution. A total of 3,314 consecutive patients undergoing invasive genetic testing for different indications were offered CMA in addition to standard karyotype. The prevalence of pathologic CNVs was compared between patients with low-risk indications and those with high-risk indications. Likewise, the prevalence of pathologic CNVs among patients with different sonographic abnormalities was calculated and compared with the low-risk group. Chi-square and Fisher exact tests were used for statistical analysis. Results  The prevalence of pathologic CNVs was significantly higher in patients with high-risk indications and specifically those with sonographic abnormalities, compared with the low-risk group (2.8 and 5.9% vs. 0.4%, respectively; all p  karyotype. Major structural malformations and nuchal translucency (NT) ≥ 3.0 mm are associated with the highest risk for a CMA abnormality. Nevertheless, the prevalence of pathologic CNVs in the low-risk population was high enough (1:250) to consider genetic counseling in this group. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  16. Normal newborn with prenatal suspicion of X chromosome monosomy due to confined placental mosaicism.

    Science.gov (United States)

    Serapinas, Danielius; Bartkeviciene, Daiva; Valantinaviciene, Emilija; Machtejeviene, Egle

    2016-10-01

    The recent introduction of cell-free DNA (cfDNA)-based noninvasive prenatal testing (NIPT) offers pregnant women a more accurate method than traditional serum screening methods for detecting fetal aneuploidies. Clinical trials have demonstrated the efficacy of NIPT for Down, Edwards and Patau syndromes. However NIPT approaches that take advantage of single-nucelotide polymorphism (SNP) information potentially allow the identification of triploidy, chromosomal microdeletion syndromes and other unusual genetic variants. To highlight this approach of NIPT we present a rare case of confined placental X chromosome monosomy mosaicism that was prenatally suspected with a single-nucleotide polymorphism-based noninvasive prenatal test. The results of invasive tests (amniocentesis) showed small proportion of X chromosome mosaicism (45, X[5]/46, XX[95]). After birth karyotype of the girl revealed no abnormalities (46 XX), confirming that mosaicism was limited to the placenta. These results highlight the need of patient's informed consent and thorough pretest and postest counseling to ensure that they understand the limitations and advantages of the tests and the implications of the resultss. Sociedad Argentina de Pediatría.

  17. Non-invasive prenatal screening for trisomy 21: Consumers' perspectives.

    Science.gov (United States)

    Higuchi, Emily C; Sheldon, Jane P; Zikmund-Fisher, Brian J; Yashar, Beverly M

    2016-02-01

    Non-invasive prenatal screening (NIPS) has the potential to dramatically increase the prenatal detection rate of Down syndrome because of improvements in safety and accuracy over existing tests. There is concern that NIPS could lead to more negative attitudes towards Down syndrome and less support for individuals with Down syndrome. To assess the impact of NIPS on support for prenatal testing, decision-making about testing, and beliefs or attitudes about Down syndrome, we performed an Internet-based experiment using adults (N = 1,789) recruited through Amazon Mechanical Turk. Participants were randomly assigned to read a mock news article about NIPS, a mock news article about amniocentesis, or no article. The content in the two articles varied only in their descriptions of the test characteristics. Participants then answered questions about their support for testing, hypothetical testing decision, and beliefs and attitudes about Down syndrome. Reading the mock NIPS news article predicted increased hypothetical test uptake. In addition, the NIPS article group also agreed more strongly that pregnant women, in general, should utilize prenatal testing. We also found that the more strongly participants supported prenatal testing for pregnant women, the less favorable their attitudes towards individuals with Down syndrome; providing some evidence that NIPS may indirectly result in more negative perceptions of individuals with this diagnosis. © 2015 Wiley Periodicals, Inc.

  18. [Clinical significance of secondary results from non-invasive prenatal testing].

    Science.gov (United States)

    Ke, Weilin; Zhao, Weihua; Jie, Shenqiu; Chen, Qingqing; Li, Qing

    2017-06-10

    To assess the accuracy of copy number variations (CNVs) detection by non-invasive prenatal testing (NIPT) in addition to its routine targets and clinical significance of such CNVs for the reduction of fetuses born with chromosomal microdeletion/duplication syndromes. From October 2014 to October 2015, 14 235 pregnant women volunteered to participate in the study. Fifteen cases detected with chromosomal CNVs by the NIPT decided to undergo prenatal diagnostic procedures including amniocentesis, G-banded karyotyping and chromosomal microarray analysis (CMA). All such cases were routinely followed up after birth. Among the 14 235 subjects underwent NIPT, 18 cases were detected with Down syndrome, 4 with trisomy 18, and 2 with trisomy 13, in addition with 24 cases of CNVs. For the latter, 15 (including 11 cases with microdeletions and 4 cases with microduplications) participated in further prenatal diagnosis. In 13 cases (86.7%), the results of CMA were consistent with those of NIPT. On the other hand, only 7 out of the 15 cases showed a positive result with karyotyping, suggesting a rather high rate of missed diagnosis (46.2%). Of note, karyotyping has identified partial inversion of chromosome 9 in one case. As a screening tool, NIPT has a high accuracy for the detection of CNVs. However, as this method is still under improvement, it is more of a reminder rather than a diagnostic tool with full capability.

  19. Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing.

    Science.gov (United States)

    Liang, Desheng; Lv, Weigang; Wang, Hua; Xu, Liangpu; Liu, Jing; Li, Haoxian; Hu, Liang; Peng, Ying; Wu, Lingqian

    2013-05-01

    To determine whether non-invasive prenatal testing by maternal plasma DNA sequencing can uncover all fetal chromosome aneuploidies in one simple sequencing event. Plasma samples from 435 pregnant women at high risk for Down syndrome were collected prior to amniocentesis in three hospitals in China between March 2009 and June 2011. We sequenced the plasma DNA extracted from these samples at low coverage. We discovered that the genome representation of each of the 24 chromosomes obeyed a linear relationship to its GC content. Applying this relationship, we analysed the copy number of each of the 24 chromosomes. Full fetal karyotyping was compared with maternal plasma DNA sequencing results. Among the 435 samples, 412 samples (94.7%) have full karyotyping and sequencing results. Sixty-seven samples containing a fetal chromosome aneuploidy, including trisomy 21, trisomy 18, trisomy 13, trisomy 9, monosomy X or others, can be accurately identified with a detection sensitivity of 100% and a detection specificity of 99.71%. Normalization of the chromosome representation values against chromosomal guanine/cytosine base content is the key issue to ensure the accuracy. Our results indicate that non-invasive detection of fetal chromosome aneuploidies for all 24 chromosomes in one single sequencing event is feasible. © 2013 John Wiley & Sons, Ltd.

  20. Amniotic fluid paraoxonase-1 activity, thyroid hormone concentration and oxidant status in neural tube defects.

    Science.gov (United States)

    Sak, Sibel; Agacayak, Elif; Tunc, Senem Yaman; Icen, Mehmet Sait; Findik, Fatih Mehmet; Sak, Muhammet Erdal; Yalinkaya, Ahmet; Gul, Talip

    2016-09-01

    The aim of this study was to investigate the potential association between neural tube defects and paraoxonase-1 activity in amniotic fluid. We studied total oxidant status, total antioxidant capacity, paraoxonase-1 activity and thyroid hormone amniotic fluid concentration in fetuses with neural tube defects. The present study was performed at the Department of Obstetrics and Gynaecology and the Department of Clinical Biochemistry of Dicle University between September 2011 and June 2013. The study group included 37 amniotic fluid samples from pregnant women (16-20 weeks of gestation) with fetuses affected by neural tube defects. The control group consisted of 36 pregnant women who were diagnosed with a high-risk pregnancy according to first or second trimester aneuploidy screening and were later confirmed on amniocentesis to have genetically normal fetuses. Amniotic fluid paraoxonase-1 activity and total oxidant status were significantly higher (P = 0.023, P = 0.029, respectively) whereas free T4 was significantly lower (P = 0.022) in fetuses with neural tube defects compared with control subjects. In fetuses with neural tube defects, amniotic fluid paraoxonase-1 activity correlated positively with total oxidant status (r = 0.424**, P = 0.010), and amniotic fluid total antioxidant capacity correlated positively with free t4 (r = 0.381*, P = 0.022). This is the first study in the literature to show an association between paraoxonase-1 activity and thyroid hormone concentration and neural tube defects. © 2016 Japan Society of Obstetrics and Gynecology.

  1. Trisomy 1q42-qter associated with monosomy 6q27-qter: a case report.

    Science.gov (United States)

    Tartaglia, Edoardo; Mastrantonio, Pasquale; Costa, Davide; Giugliano, Brunella; Porcellini, Antonio; Costagliola, Ciro

    2011-01-01

    Partial trisomy 1q42-qter is a rare chromosomal aberration. Most cases arise from de novo unbalanced translocations or from unbalanced inheritance of parental balanced rearrangements. Descriptive case report. A 4-year-old boy had shown an increased neck translucency at the fetal ultrasound examination performed at the 11th week of gestation. Amniocentesis, performed at the 18th week of gestation, did not demonstrate any genetic abnormality. A second fetal ultrasound examination, carried out at the 35th week of gestation, showed congenital clubfeet and hydrocephalus. At birth, clinical examination revealed congenital bilateral ventriculomegaly, bilateral congenital equinovarus clubfeet, low-set ears, plagiocephaly, micrognathia, hypertelorism, prominent forehead, broad nasal bridge, hypertonic syndrome, and inguinal hernia. Ophthalmologic consultation showed the presence of optic pit in his left eye. Genetic counseling was performed. Chromosome analysis demonstrated a partial trisomy 1q42.2-qter associated with a partial monosomy 6q27-qter. Moreover, deletions of the distal region on the long arm of chromosome 6 are frequently associated with both ocular abnormalities and several solid tumor types. Moderate mental and psychomotor retardation has occurred. This case emphasizes the importance of scheduling a screening test for eye diseases and tumor in these patients.

  2. Amniotic fluid cathepsin-G in pregnancies complicated by the preterm prelabor rupture of membranes.

    Science.gov (United States)

    Musilova, Ivana; Andrys, Ctirad; Drahosova, Marcela; Soucek, Ondrej; Pliskova, Lenka; Stepan, Martin; Bestvina, Tomas; Maly, Jan; Jacobsson, Bo; Kacerovsky, Marian

    2017-09-01

    The aim of this study was to evaluate the amniotic fluid cathepsin-G concentrations in women with preterm prelabor rupture of membranes (PPROM) based on the presence of the microbial invasion of the amniotic cavity (MIAC) and/or intra-amniotic inflammation (IAI). A total of 154 women with singleton pregnancies complicated by PPROM were included in this study. Amniotic fluid samples were obtained by transabdominal amniocentesis. Amniotic fluid cathepsin-G concentrations were assessed by ELISA. MIAC was determined using a non-cultivation approach. IAI was defined as an amniotic fluid bedside interleukin-6 concentration ≥ 745 pg/mL. Women with MIAC had higher amniotic fluid cathepsin-G concentrations than women without MIAC (with MIAC: median 82.7 ng/mL, versus without MIAC: median 64.7 ng/mL; p = 0.0003). Women with IAI had higher amniotic fluid cathepsin-G concentrations than women without this complication (with IAI: median 103.0 ng/mL, versus without IAI: median 66.2 ng/mL; p G concentrations than women with colonization (MIAC without IAI) and women without both MIAC and IAI (p G concentrations in pregnancies complicated by PPROM. Amniotic fluid cathepsin-G appears to be a potential marker of IAI.

  3. Ethical considerations of applications of preimplantation genetic diagnosis in the United States.

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    Adams, Karen E

    2003-01-01

    Preimplantation genetic diagnosis (PGD) was developed to offer diagnosis of genetic disorders prior to initiation of a pregnancy, whereas previously such disorders would be diagnosed at amniocentesis or chorionic villus sampling after a pregnancy had already been undertaken. Such application of this technology is not controversial. But PGD has been used to not only diagnose genetic disorders but also to select for certain other characteristics, and this use of the technique is much more controversial. A case is presented in which PGD was used not only to select against a genetic disorder, but to select for a certain HLA type which matched an affected sibling. The new child's cord blood was transplanted into his affected sister, who subsequently was found to be free of disease. The ethics of "having a child to save a child" are explored, and possible other uses of PGD that lead to eugenic outcomes are considered. The lack of regulation of this technology in the US is contrasted with existing legislation in other countries, and the need for national and international consensus regarding appropriate uses of PGD is emphasized.

  4. The course and outcome of a pregnancy with a prematura preterm rupture of membranes dilema or liability

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    Jovanovic M.

    2014-01-01

    Full Text Available Preterm premature rupture of membranes (PPROM is in obstetrics with incidence of 0,4% of , with risk for chorioamnionitis 35%, risk for premature deli very 19%, and sepsis risk of 1%. Primary risk for fetus is pulmonal hypoplasia due to oligohydramnios in 29%, RDS in 66 % of such pregnancies, sepsis in 19%, and contracture of extremities in 3%. Fetal death is more than 30% of cases. Patient came to regular pregnancy check up in 22th week of gestation. US examination revealed decreased fluid volume AFI 50, with regular morphology and fetal dynamic. She was admitted to hospital. She was given cortico-steroids and antibiotics. In further course of pregnancy amniocentesis was performed in 32th week of pregnancy to rule out the infection and to check pulmonal maturity. In absence of infection and lung maturity pregnancy was continued until 36th week of gestation when Cesarean Section was. Baby went well and is now healthy child in the age of three. Some studies suggested that delivery can be significantly prolonged. In our case we managed to gain 14 weeks, from 22th to 36th gestational week. Firstly gynaecologyst nightmare to ask the woman is she accept therapy. The aim is to deliver a healthy child without neurological and other consequences and mother with preserved reproductive function. Controversy still exists when is the appropriate time to finish pregnancy with prolonged PPROM.

  5. [Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ].

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    Hu, Hao; Wang, Hua; Jia, Zhengjun; Xie, Qiong

    2014-08-01

    To perform genotyping analysis and subsequent prenatal genetic diagnosis for two families affected with oculocutaneous albinism (OCA). Direct sequencing of TYR and P genes was performed in two albino probands. Family members were screened for corresponding mutant alleles. Prenatal genetic diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) at mid-pregnancy through amniocentesis. No mutations were detected in the TYR gene in either probands, whereas 4 heterozygous mutations of the P gene were found, namely c.406C>T, c.535A>G, c.808-2A>G and c.2180T>C, among which c.535A>G and c.808-2A>G were novel. In the first round prenatal genetic testing, both fetuses were found to have the same genotypes as the probands. Both families had decided to terminate the pregnancy after genetic counseling. In the second round testing, neither of the fetuses was found to be affected by genotyping. The pregnancies continued and two healthy fetuses were born. OCA can be classified by genotyping, with which reliable prenatal diagnosis and feasible genetic counseling may be provided.

  6. [Prenatal diagnosis of oculocutaneous albinism type IV and discovery of a novel mutation].

    Science.gov (United States)

    Pang, Ting; Lei, Jie; Zheng, Hui; Xu, Bei; Jiang, Wei-ying; Li, Hong-yi

    2011-02-01

    To provide guidance for clinical genetic counseling and prenatal diagnosis of oculocutaneous albinism (OCA) in China. PCR and automatic DNA sequencing were applied to obtain the genotypes of the patients and their parents in three Chinese albinism families. Prenatal gene diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) or by amniocentesis at mid-pregnancy. The three patients were all OCA4, whose genotypes were G349R/c.870delC, G349R/P419L and G349R/D160H, respectively. The three couples had been diagnosed as carriers. In family 1, the first fetus was diagnosed as affected. Termination of pregnancy was opted following genetic counseling. The second fetus (monozygotic twin) was heterozygous only with the paternal G349R mutation. The fetus in family 2 did not get either one of the two mutations. The fetus in family 3 was heterozygous only with the paternal G349R mutation. This study detected three reported pathogenic mutations of the membrane associated transporter protein gene (MATP), including G349R, D160H and P419L, and identified a novel pathogenic mutation c.870delC. The prenatal gene diagnosis of OCA4 will be important to prevent the birth of affected child.

  7. Reference intervals for N-terminal pro-B-type natriuretic peptide in amniotic fluid between 10 and 34 weeks of gestation.

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    Waltraut M Merz

    Full Text Available BACKGROUND: In adult and pediatric cardiology, n-terminal pro-B-type natriuretic peptide (nt-proBNP serves as biomarker in the diagnosis and management of cardiovascular dysfunction. Elevated levels of circulating nt-proBNP are present in fetal conditions associated with myocardial pressure or volume load. Compared to fetal blood sampling, amniocentesis is technically easier and can be performed from early pregnancy onwards. We aimed to investigate amniotic fluid (AF nt-proBNP concentrations in normal pregnancies between 10 and 34 weeks of gestation. METHODS: Nt-proBNP and total protein (TP was measured in AF by chemiluminescence assay (photometry, respectively. To adjust for a potential dilutional effect, the AF-nt-proBNP/AF-TP ratio was analyzed. Reference intervals were constructed by regression modeling across gestational age. RESULTS: 132 samples were analyzed. A negative correlation between AF-nt-proBNP/AF-TP ratio and gestational age was observed. Curves for the mean and the 5% and 95% reference interval between 10 and 34 weeks of gestation were established. CONCLUSION: In normal pregnancy, nt-proBNP is present in AF and decreases during gestation. Our data provide the basis for research on AF-nt-proBNP as biomarker in fetal medicine.

  8. Prenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1

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    Sabrina C. Burn

    2018-01-01

    Full Text Available The occurrence of simultaneous de novo chromosomal aberrations is extremely rare. Here, we describe two, previously unreported, simultaneous de novo interstitial duplications of chromosomes 7p and 15q. Amniocentesis was completed for a healthy gravida 4 para 3 woman due to her advanced maternal age and concurrent ultrasound findings of partial vermian agenesis, choroid-plexus cysts, and hypoplastic nasal bone. Cytogenetic analysis of cultured amniocytes by conventional chromosome analysis, comparative genomic hybridization, and fluorescence in situ hybridization revealed two interstitial duplications of the chromosomal regions 7p22.1p21.1 and 15q24.1, leading to partial trisomy of 7p and 15q and karyotype 46,XY,dup(7(p22.1-p21.1,dup (15(q24.1. Parental chromosomal analysis did not identify any heritable changes, suggesting both mutations were de novo in nature. Postnatal examination of the neonate was significant for low set ears, thick helices, flat nasal bridge, ankyloglossia, and aberrant head shape and size concerning for craniosynostosis. Postnatal MRI was consistent with Dandy-Walker variant showing hypogenesis of the inferior cerebellar vermis. To our knowledge, there are no prenatal or postnatal reports of comparable duplications involving these two regions simultaneously. Continued observation of the neonate may reveal further phenotypic consequences of these two simultaneous de novo interstitial duplications.

  9. Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options.

    Science.gov (United States)

    Thorburn, D R; Dahl, H H

    2001-01-01

    Most patients with mitochondrial disorders are diagnosed by finding a respiratory chain enzyme defect or a mutation in the mitochondrial DNA (mtDNA). The provision of accurate genetic counseling and reproductive options to these families is complicated by the unique genetic features of mtDNA that distinguish it from Mendelian genetics. These include maternal inheritance, heteroplasmy, the threshold effect, the mitochondrial bottleneck, tissue variation, and selection. Although we still have much to learn about mtDNA genetics, it is now possible to provide useful guidance to families with an mtDNA mutation or a respiratory chain enzyme defect. We describe a range of current reproductive options that may be considered for prevention of transmission of mtDNA mutations, including the use of donor oocytes, prenatal diagnosis (by chorionic villus sampling or amniocentesis), and preimplantation genetic diagnosis, plus possible future options such as nuclear transfer and cytoplasmic transfer. For common mtDNA mutations associated with mitochondrial cytopathies (such as NARP, Leigh Disease, MELAS, MERRF, Leber's Hereditary Optic Neuropathy, CPEO, Kearns-Sayre syndrome, and Pearson syndrome), we summarize the available data on recurrence risk and discuss the relative advantages and disadvantages of reproductive options. Copyright 2001 Wiley-Liss, Inc.

  10. Mosaic tetrasomy 20p associated with osteoporosis and recurrent fractures.

    Science.gov (United States)

    Maziad, Asmaa S Abu; Seaver, Laurie H

    2015-07-01

    Tetrasomy 20p is a very rare chromosome abnormality, with only two single cases previously reported in the literature, both fetuses with multiple congenital anomalies, osteopenia, and fractures. We report on the first case of mosaic tetrasomy 20p in a 13-year-old male. Amniocentesis karyotype showed mosaicism (73% of cells) for a supernumerary marker chromosome, an isodicentric chromosome 20p. At birth, cord blood karyotype was normal in all cells but uroepithelial cells showed the marker chromosome in 30% of cells analyzed. Chromosomal single nucleotide polymorphism (SNP) microarray using buccal cells confirmed the previous result with mosaicism estimated at 59% of cells. His course has been complicated by profound osteoporosis with recurrent nontraumatic fractures and vertebral compression leading to significant disability. This report describes the phenotype and evaluation of mosaic pure tetrasomy 20p syndrome and compares to nonmosaic tetrasomy 20p and trisomy 20p syndromes, both of which have been previously reported in association with osteopenia and fractures. The pathophysiology of osteoporosis in tetrasomy 20p is unknown. We hypothesize that overexpression of bone morphogenetic protein 2 may be the underlying mechanism of osteoporosis and recurrent fractures. © 2015 Wiley Periodicals, Inc.

  11. Organisation of care for pregnancy in patients with congenital heart disease.

    Science.gov (United States)

    Roos-Hesselink, Jolien W; Budts, Werner; Walker, Fiona; De Backer, Julie F A; Swan, Lorna; Stones, William; Kranke, Peter; Sliwa-Hahnle, Karen; Johnson, Mark R

    2017-12-01

    Improvements in surgery have resulted in more women with repaired congenital heart disease (CHD) surviving to adulthood. Women with CHD, who wish to embark on pregnancy require prepregnancy counselling. This consultation should cover several issues such as the long-term prognosis of the mother, fertility and miscarriage rates, recurrence risk of CHD in the baby, drug therapy during pregnancy, estimated maternal risk and outcome, expected fetal outcomes and plans for pregnancy. Prenatal genetic testing is available for those patients with an identified genetic defect using pregestational diagnosis or prenatal diagnosis chorionic villus sampling or amniocentesis. Centralisation of care is needed for high-risk patients. Finally, currently there are no recommendations addressing the issue of the delivery. It is crucial that a dedicated plan for delivery should be available for all cardiac patients. The maternal mortality in low-income to middle-income countries is 14 times higher than in high-income countries and needs additional aspects and dedicated care. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  12. Beyond easy answers: prenatal diagnosis and counseling during pregnancy.

    Science.gov (United States)

    Strauss, Ronald P

    2002-03-01

    The advancing sophistication and availability of prenatal diagnostic technologies, such as transvaginal ultrasound, chorionic villus sampling, amniocentesis, and alpha feto-protein testing, have increased the medical capacity to detect genetic and congenital conditions during pregnancy. This paper raises many social and ethical questions about how families, craniofacial teams, and society respond when a prenatal diagnosis is made and considers the ethical and social issues around counseling, managing information, and making decisions. Ethical and sociological analysis. Implications examined on the societal, health professional, and family level. Families and health professionals often manage ambiguity, uncertainty, and complex decision making in facing a prenatal diagnosis. Embedded in parental and clinical decisions are values about children with birth defects. Families are making decisions about whether to bear or abort an affected fetus on the basis of their perceptions of the impairment and on their expectation of the burden involved for the family and the child. On a broader, societal level, pressures to conform and minimize human differences are apparent in biomedical interventions, the Human Genome Project, advertising and media images, and social pressures to normalize disabilities. How society deals with prenatal diagnosis will impact upon social values; moral, legal, and ethical perspectives; and on health policy. Prenatal diagnostic technologies raise complex ethical, family, policy, and legal issues that have broad implications for the lives of children born with special health care needs, including children with cleft lip and palate.

  13. Antenatal nephromegaly and propionic acidemia: a case report.

    Science.gov (United States)

    Bernheim, Ségolène; Deschênes, Georges; Schiff, Manuel; Cussenot, Isabelle; Niel, Olivier

    2017-03-30

    Propionic acidemia (PA) is a rare but severe recessive autosomal disease, presenting with non specific signs in the first years of life. Prenatal diagnosis is invasive (amniocentesis) and limited to suspect cases. No screening test has been described, in particular no correlations between prenatal sonography and PA have been documented so far. We report the case of a boy with fetal bilateral nephromegaly and hyperechogenic kidneys, along with neonatal acute kidney injury; no etiology could be found in the first months of life. At 3 months of life, he presented with tachypnea and altered mental status, which lead to the diagnosis of PA. The renal ultrasound at 8 months of life, after a symptomatic treatment of PA had been initiated, showed a regression of the renal abnormalities. This case describes PA as a novel cause of large and hyperechogenic kidneys in the antenatal period. It suggests that, when confronted to fetal nephromegaly, hyperechogenic kidneys and risk factors of metabolic disease such as consanguineous parents, PA should be considered, and a prenatal test should be proposed.

  14. 1

    Science.gov (United States)

    Fotiou, Maria; Fotakis, Charalambos; Tsakoumaki, Foteini; Athanasiadou, Elpiniki; Kyrkou, Charikleia; Dimitropoulou, Aristea; Tsiaka, Thalia; Chatziioannou, Anastasia Chrysovalantou; Sarafidis, Kosmas; Menexes, George; Theodoridis, Georgios; Biliaderis, Costas G; Zoumpoulakis, Panagiotis; Athanasiadis, Apostolos P; Michaelidou, Alexandra-Maria

    2018-03-06

    Maternal diet may influence offspring's health, even within well-nourished populations. Amniotic fluid (AF) provides a rational compartment for studies on fetal metabolism. Evidence in animal models indicates that maternal diet affects AF metabolic profile; however, data from human studies are scarce. Therefore, we have explored whether AF content may be influenced by maternal diet, using a validated food-frequency questionnaire and implementing NMR-based metabolomics. Sixty-five AF specimens, from women undergoing second-trimester amniocentesis for prenatal diagnosis, were analysed. Complementary, maternal serum and urine samples were profiled. Hierarchical cluster analysis identified 2 dietary patterns, cluster 1 (C1, n = 33) and cluster 2 (C2, n = 32). C1 was characterized by significantly higher percentages of energy derived from refined cereals, yellow cheese, red meat, poultry, and "ready-to-eat" foods, while C2 by higher (P cereals, vegetables, fruits, legumes, and nuts. 1 H NMR spectra allowed the identification of metabolites associated with these dietary patterns; glucose, alanine, tyrosine, valine, citrate, cis-acotinate, and formate were the key discriminatory metabolites elevated in C1 AF specimens. This is the first evidence to suggest that the composition of AF is influenced by maternal habitual dietary patterns. Our results highlight the need to broaden the knowledge on the importance of maternal nutrition during pregnancy.

  15. Non-Invasive Prenatal Testing: Review of Ethical, Legal and Social Implications

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    Haidar, Hazar

    2016-02-01

    Full Text Available Non-invasive prenatal testing (NIPT using cell-free fetal DNA (cffDNA from maternal blood has recently entered clinical practice in many countries, including Canada. This test can be performed early during pregnancy to detect Down syndrome and other conditions. While NIPT promises numerous benefits, it also has challenging ethical, legal and social implications (ELSI. This paper reviews concerns currently found in the literature on the ELSI of NIPT. We make four observations. First, NIPT seems to exacerbate some of the already existing concerns raised by other prenatal tests (amniocentesis and maternal serum screening such as threats to women’s reproductive autonomy and the potential for discrimination and stigmatization of disabled individuals and their families. This may be due to the likely upcoming large scale implementation and routinization of NIPT. Second, the distinction between NIPT as a screening test (as it is currently recommended and as a diagnostic test (potentially in the future, has certain implications for the ELSI discussion. Third, we observed a progressive shift in the literature from initially including mostly conceptual analysis to an increasing number of empirical studies. This demonstrates the contribution of empirical bioethics approaches as the technology is being implemented into clinical use. Finally, we noted an increasing interest in equity and justice concerns regarding access to NIPT as it becomes more widely implemented.

  16. Women’s Attitudes Regarding Prenatal Testing for a Range of Congenital Disorders of Varying Severity

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    Mary E. Norton

    2014-01-01

    Full Text Available Little is known about women’s comparative attitudes towards prenatal testing for different categories of genetic disorders. We interviewed women who delivered healthy infants within the past year and assessed attitudes towards prenatal screening and diagnostic testing, as well as pregnancy termination, for Down syndrome (DS, fragile X (FraX, cystic fibrosis (CF, spinal muscular atrophy (SMA, phenylketonuria (PKU and congenital heart defects (CHD. Ninety-five women aged 21 to 48 years participated, of whom 60% were Caucasian, 23% Asian, 10% Latina and 7% African American; 82% were college graduates. Ninety-five to ninety-eight percent indicated that they would have screening for each condition, and the majority would have amniocentesis (64% for PKU to 72% for SMA. Inclinations regarding pregnancy termination varied by condition: Whereas only 10% reported they would probably or definitely terminate a pregnancy for CHD, 41% indicated they would do so for DS and 62% for SMA. Most women in this cohort reported that they would undergo screening for all six conditions presented, the majority without the intent to terminate an affected pregnancy. These women were least inclined to terminate treatable disorders (PKU, CHD versus those associated with intellectual disability (DS, FraX and were most likely to terminate for SMA, typically lethal in childhood.

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

    Science.gov (United States)

    Papp, Z

    1973-01-01

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

  18. The human sex ratio from conception to birth.

    Science.gov (United States)

    Orzack, Steven Hecht; Stubblefield, J William; Akmaev, Viatcheslav R; Colls, Pere; Munné, Santiago; Scholl, Thomas; Steinsaltz, David; Zuckerman, James E

    2015-04-21

    We describe the trajectory of the human sex ratio from conception to birth by analyzing data from (i) 3- to 6-d-old embryos, (ii) induced abortions, (iii) chorionic villus sampling, (iv) amniocentesis, and (v) fetal deaths and live births. Our dataset is the most comprehensive and largest ever assembled to estimate the sex ratio at conception and the sex ratio trajectory and is the first, to our knowledge, to include all of these types of data. Our estimate of the sex ratio at conception is 0.5 (proportion male), which contradicts the common claim that the sex ratio at conception is male-biased. The sex ratio among abnormal embryos is male-biased, and the sex ratio among normal embryos is female-biased. These biases are associated with the abnormal/normal state of the sex chromosomes and of chromosomes 15 and 17. The sex ratio may decrease in the first week or so after conception (due to excess male mortality); it then increases for at least 10-15 wk (due to excess female mortality), levels off after ∼20 wk, and declines slowly from 28 to 35 wk (due to excess male mortality). Total female mortality during pregnancy exceeds total male mortality. The unbiased sex ratio at conception, the increase in the sex ratio during the first trimester, and total mortality during pregnancy being greater for females are fundamental insights into early human development.

  19. Predicting lung maturity in preterm rupture of membranes via lamellar bodies count from a vaginal pool: a cohort study.

    Science.gov (United States)

    Salim, Raed; Zafran, Noah; Nachum, Zohar; Garmi, Gali; Shalev, Eliezer

    2009-10-14

    Amniocentesis is the accepted mode of attaining amniotic fluid to perform tests for fetal lung maturity. The purpose of this study was to validate a non-invasive fetal lung maturity test by counting lamellar bodies from a vaginal pool among women with preterm premature rupture of membranes. In a prospective study, amniotic fluid specimens were collected from a vaginal pool from women after preterm premature rupture of membranes with gestational age between 27 and 36 completed weeks. Receiver operating characteristics curve was estimated to assess the threshold of lamellar bodies' count that may predict fetal lung maturity. Seventy-five specimens were collected of which 17 were between 32 to 34 weeks. A lamellar bodies' count of 28,000 or more predicted mature fetus 100% of the time (specificity) among all women and also among women between 32 to 34 weeks. The sensitivity was 72% among all and 92% when gestational age was between 32 to 34 weeks. A count of 8,000 or less, predicted respiratory distress syndrome with a sensitivity of 98% among the whole group. Counting of lamellar bodies in amniotic fluid from a vaginal pool may be used to predict fetal lung maturity.

  20. Noninvasive prediction of intra-amniotic infection and/or inflammation in preterm premature rupture of membranes.

    Science.gov (United States)

    Park, Kyo Hoon; Kim, Shi Nae; Oh, Kyung Joon; Lee, Sung Youn; Jeong, Eun Ha; Ryu, Aeli

    2012-06-01

    To develop a model based on noninvasive parameters to predict the probability of intra-amniotic infection and/or inflammation (IAI) in women with preterm premature rupture of membranes (PPROMs). Maternal blood was collected for determination of the C-reactive protein (CRP) level and white blood cell (WBC) count immediately after amniocentesis in 171 consecutive women with PPROMs. Intra-amniotic infection and/or inflammation was defined as a positive amniotic fluid (AF) culture and/or an elevated AF interleukin 6 level (≥2.6 ng/mL). A risk score based on a model including maternal blood CRP, WBC, parity, and gestational age was calculated for each patient. The model was shown to have an adequate goodness of fit (P = .516), and the area under the receiver-operating characteristic curve was 0.848, indicating very good discrimination. The noninvasive model based on maternal blood CRP, WBC, parity, and gestational age is highly predictive of IAI in women with PPROMs.

  1. A Non-invasive Prenatal Diagnosis Method: Free Fetal DNA in Maternal Plasma

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    Ebru Dundar Yenilmez

    2013-06-01

    Full Text Available Prenatal diagnosis for genetic diseases nowadays is still carried out by invasive procedures such as chorionic villus sampling, amniocentesis or cordocentesis. These techniques, however, accompanied with risk of fetal losses. Non-invasive prenatal diagnosis tests based on the analysis of fetal DNA in maternal plasma have potential to be a safer alternative to invasive methods. Non-invasive prenatal diagnosis has been a long-standing research theme in prenatal medicine. The discovery of cell-free fetal nucleic acids in maternal plasma in 1997 has opened new possibilities for noninvasive prenatal diagnosis. The measurement and detection of fetal DNA in maternal plasma and serum has led to clinical applications for the identification of fetal aneuploidies, pre-eclamptic pregnancies, noninvasive diagnosis of fetal Rhesus D genotype and some single gene disorders. The detection of fetal DNA sequences is a reality and could reduce the risk of invasive techniques for certain fetal disorders in the near future. [Archives Medical Review Journal 2013; 22(3.000: 317-334

  2. Effects of reiki in clinical practice: a systematic review of randomised clinical trials.

    Science.gov (United States)

    Lee, M S; Pittler, M H; Ernst, E

    2008-06-01

    The aim of this systematic review is to summarise and critically evaluate the evidence for the effectiveness of reiki. We searched the literature using 23 databases from their respective inceptions through to November 2007 (search again 23 January 2008) without language restrictions. Methodological quality was assessed using the Jadad score. The searches identified 205 potentially relevant studies. Nine randomised clinical trials (RCTs) met our inclusion criteria. Two RCTs suggested beneficial effects of reiki compared with sham control on depression, while one RCT did not report intergroup differences. For pain and anxiety, one RCT showed intergroup differences compared with sham control. For stress and hopelessness a further RCT reported effects of reiki and distant reiki compared with distant sham control. For functional recovery after ischaemic stroke there were no intergroup differences compared with sham. There was also no difference for anxiety between groups of pregnant women undergoing amniocentesis. For diabetic neuropathy there were no effects of reiki on pain. A further RCT failed to show the effects of reiki for anxiety and depression in women undergoing breast biopsy compared with conventional care. In total, the trial data for any one condition are scarce and independent replications are not available for each condition. Most trials suffered from methodological flaws such as small sample size, inadequate study design and poor reporting. In conclusion, the evidence is insufficient to suggest that reiki is an effective treatment for any condition. Therefore the value of reiki remains unproven.

  3. Prenatal diagnosis and prognosis of triple X syndrome: 47, XXX.

    Science.gov (United States)

    Ben Hamouda, H; Mkacher, N; Elghezal, H; Bannour, H; Kamoun, M; Soua, H; Saad, A; Souissi, M M; Sfar, M T

    2009-11-01

    Triple X syndrome is a relatively common sex chromosomal abnormality occurring in 0,1% of live-born female infants. Most of these infants have a normal phenotype and only a few cases with 47, XXX karyotype have congenital malformations. We report three cases of triple X syndrome that were diagnosed prenatally by genetic amniocentesis for advanced maternal age and have been observed from birth to age of 3 to 12 years. A description of their growth and development is presented. The birth weight was normal in all patients and one of them had facial dysmorphism with right microphtalmia and auricular septal defect. During the first 2 years of life, the neuromotor development of these infants was not distinguishable from chromosomally normal children. By 3 years of age, two patients have a moderate developmental delay in speech and language. One girl 12-year-old had normal schooling. The diagnosis of the triple X syndrome can be never made because clinical demonstrations are not rather important to arouse the demand of a karyotype. Prenatal diagnosis is often made in front of the advanced maternal age. Expectant parents must be counseled as to the significance of this 47, XXX karyotype and prognostic information must be given.

  4. [Absent or hypoplastic thymus: A marker for 22q11.2 microdeletion syndrome in case of polyhydramnios].

    Science.gov (United States)

    Lamouroux, A; Mousty, E; Prodhomme, O; Bigi, N; Le Gac, M-P; Letouzey, V; De Tayrac, R; Mares, P

    2016-04-01

    In prenatal diagnosis of 22q11.2 microdeletion syndrome, without cardiac malformation or multiple associated congenital anomalies, we study the presence of polyhydramnios and its association with thymic dysgenesis. This was a multicenter retrospective observational study. It was performed in two multidisciplinary centers for prenatal diagnosis in the south of France between January 1, 2010 and June 30, 2013. Inclusion criteria were prenatal diagnosis of 22q11.2 deletion syndrome. We excluded from the study any fetus with cardiac malformation or multiple associated congenital anomalies. During the inclusion period, eleven antenatal diagnoses of 22q11.2 microdeletion syndrome have been made. Six cases were excluded: 5 fetuses with cardiac malformation and one with multiple associated congenital anomalies. Therefore, five cases of isolated polyhydramnios were included. All 5 fetuses had a thymic dysgenesis: 3 had a thymic agenesis and 1 thymic hypoplasia diagnosed by sonography and 1 had a thymic agenesis diagnosed by retrospective reading of fetal MRI. When faced with a polyhydramnios, the presence of a thymic dysgenesis should be search for by ultrasound screening and would alert to the possibility of a 22q11.2 microdeletion syndrome. The confirmation of this is diagnosis by amniocentesis would enable improved antenatal support for parents and would enable early implementation of the multidisciplinary neonatal care that is required to avoid serious complications of this syndrome. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  5. Amniotic fluid for ex vivo skin preservation: a comparative study of tissue preservation solutions.

    Science.gov (United States)

    Buseman, Jason; Rinker, Alexander B; Rinker, Brian

    2013-12-01

    Ex vivo skin preservation is important for skin banks, burn centers, and in research; however, the optimal preservation solution is not known. Human amniotic fluid (HAF), in addition to its role in fetal wound healing, has promise as an effective and readily available preservation solution. The purpose of this study was to compare the efficacy of several solutions, including HAF, in full-thickness skin preservation. Human amniotic fluid was obtained from patients undergoing amniocentesis. Full-thickness skin obtained during abdominoplasty was divided into 1-cm(2) samples. These specimens were preserved in either saline, HAF from a single patient, pooled HAF, University of Wisconsin solution, or custodial histidine-tryptophan-ketoglutarate solution at 4°C. There were 5 samples in each group. Specimens were examined for keratinocyte survival at 7, 14, 21, 28, and 35 days using the trypan blue assay. The first 200 cells identified were counted to calculate the degree of cell death. Comparisons were made between the groups, and a multivariable repeated-measures analysis was performed to determine statistical significance, which was defined as P skin banks, burn centers, and research.

  6. A design process for using normative models in shared decision making: a case study in the context of prenatal testing.

    Science.gov (United States)

    Rapaport, Sivan; Leshno, Moshe; Fink, Lior

    2014-12-01

    Shared decision making (SDM) encourages the patient to play a more active role in the process of medical consultation and its primary objective is to find the best treatment for a specific patient. Recent findings, however, show that patient preferences cannot be easily or accurately judged on the basis of communicative exchange during routine office visits, even for patients who seek to expand their role in medical decision making (MDM). The objective of this study is to improve the quality of patient-physician communication by developing a novel design process for SDM and then demonstrating, through a case study, the applicability of this process in enabling the use of a normative model for a specific medical situation. Our design process goes through the following stages: definition of medical situation and decision problem, development/identification of normative model, adaptation of normative model, empirical analysis and development of decision support systems (DSS) tools that facilitate the SDM process in the specific medical situation. This study demonstrates the applicability of the process through the implementation of the general normative theory of MDM under uncertainty for the medical-financial dilemma of choosing a physician to perform amniocentesis. The use of normative models in SDM raises several issues, such as the goal of the normative model, the relation between the goals of prediction and recommendation, and the general question of whether it is valid to use a normative model for people who do not behave according to the model's assumptions. © 2012 John Wiley & Sons Ltd.

  7. A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus

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    Carolina Sismani

    2015-01-01

    Full Text Available Terminal deletions in the long arm of chromosome 1 result in a postnatally recognizable disorder described as 1q43q44 deletion syndrome. The size of the deletions and the resulting phenotype varies among patients. However, some features are common among patients as the chromosomal regions included in the deletions. In the present case, ultrasonography at 22 weeks of gestation revealed choroid plexus cysts (CPCs and a single umbilical artery (SUA and therefore amniocentesis was performed. Chromosomal analysis revealed a possible terminal deletion in 1q and high resolution array CGH confirmed the terminal 1q43q44 deletion and estimated the size to be approximately 8 Mb. Following termination of pregnancy, performance of fetopsy allowed further clinical characterization. We report here a prenatal case with the smallest pure terminal 1q43q44 deletion, that has been molecularly and phenotypically characterized. In addition, to our knowledge this is the first prenatal case reported with 1q13q44 terminal deletion and Pierre-Robin sequence (PRS. Our findings combined with review data from the literature show the complexity of the genetic basis of the associated syndrome.

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

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    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.

  9. [Hyperechogenic fetal bowel: Which fetal and neonatal outcome? A French study of 149 cases].

    Science.gov (United States)

    Bleu, G; Coulon, C; Vaast, P; Bourgeot, P; Sfeir, R; Boute, O; Houfflin-Debarge, V

    2015-06-01

    In case of hyperechogenic fetal bowel (HFB), invasive procedures such as amniocentesis are often proposed to detect an underlying cause. Our goal is to study etiologies and prognosis of HFB according to antenatal sonographic findings in order to evaluate the relevance of antenatal assessment. It is a retrospective monocentric study lead from 2008 to 2012, including all patients with a suspicion of HFB on routine sonography. We analysed the antenatal and neonatal results, distinguishing four situations: isolated HFB, HFB+other digestive anomalies, HFB+vascular pathology, HFB+other associated anomalies. For 149 patients, HBF was confirmed. Sixty-nine were isolated HFB, 24 associated with other digestive anomalies, 16 with vascular pathology and 40 with other anomalies. Pregnancy outcomes were different with 92.8, 41.7, 0 and 45.0% of healthy newborns. In the case of isolated HBF, we noted 2.9% cystic fibrosis and 2.9% congenital infection. Isolated HBF seems to have a better prognosis than associated forms. However, prenatal investigations to eliminate cystic fibrosis or congenital infection should be offered and may be initially non-invasive, if a larger series confirmed the absence of dyschromosomy in this population. Copyright © 2014. Published by Elsevier Masson SAS.

  10. [Neonatal outcome of fetal hyperechogenic bowel].

    Science.gov (United States)

    Maillet, L; Rudigoz, R C; Buffin, R; Massardier, J; Gaucherand, P; Huissoud, C

    2014-06-01

    Echogenic bowel (EB) represents 1 % of pregnancy and is a risk factor of fetal pathology (infection, cystic fibrosis, aneuploidy). The aim of our study was to determine the fetuses' outcomes with isolated EB. This is a retrospective study of all patients who presented singleton gestations with a fetal isolated echogenic bowel between 2004 and 2011 in two prenatal diagnosis centers. Search of aneuploidy, infection and cystic fibrosis was systematically proposed as well as an ultrasound monitoring. On 109 fetus addressed for isolate echogenic bowel five had other signs associated and 74 had a real isolated echogenic bowel (without dilatation, calcification, intrauterine growth restriction). In 30 cases, the EB was not found. Eighty-five percent of the patients had in the first trimester a screening for trisomy 21. None fetus with isolated EB had trisomy, infection or cystic fibrosis. One fetus died in utero and one newborn died of a metabolic disease without digestive repercussions. The risk of trisomy 21 and the risk to have a serious disease appear low for the fetus with EB. It does not seem necessary to propose a systematic amniocentesis in case of isolated echogenic bowel. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  11. Use of amniocytes for prenatal diagnosis of 22q11.2 microdeletion syndrome: a feasibility study.

    Science.gov (United States)

    Liu, Tao; Liu, Qing; Wang, Yi-xin; Yang, Dong; Xin, Yi; Fang, Zhen; Ding, Shu-fang; Yang, Jie-fu

    2010-02-20

    A study of prenatal genetic diagnosis for 22q11.2 microdeletion, which has a wide phenotypic spectrum that involves almost all organs, is rarely reported in China. This study aimed to explore the prevalence of 22q11.2 microdeletion in congenitally malformed fetuses via the fluorescent in situ hybridization (FISH) technique and to investigate the feasibility of use of amniocytes to diagnose 22q11.2 microdeletion syndrome prenatally. The study enrolled 23 cases of fetal cardiac malformation, as indicated by ultrasound in Beijing Anzhen Hospital and 14 cases of non-cardiac malformation, as determined by type-B ultrasound in Beijing Anzhen Hospital and other hospitals. Amniotic fluid was obtained by amniocentesis before odinopoeia, and the stillborn fetuses of the induced labor were preceded to autopsy. The amniotic fluid of 20 cesarean deliveries during the same period of time was used as a control. The TUPLE1 gene in the amniotic fluid of malformed and normal fetuses was assessed by the FISH method. The prevalence rates of the TUPLE1 gene deletion in the amniotic fluid cells from fetuses with cardiac deformations and fetuses without such malformations were 43.5% and 57.1%, respectively. The deletion of TUPLE1 was significantly associated with fetal malformation. Chromosome 22q11.2 microdeletion is one of the major factors leading to fetal congenital malformations, and prenatal FISH screening for 22q11.2 microdeletion syndrome is technically feasible using amniocytes.

  12. Investigation of the diagnostic value of chromosome analysis and bacterial artificial chromosome-based array comparative genomic hybridization in prenatal diagnosis.

    Science.gov (United States)

    Savli, Hakan; Keskin, Seda Eren; Cine, Naci

    2015-01-01

    To investigate the diagnostic value of bacterial artificial chromosome (BAC)-based array comparative genomic hybridization (CGH) and chromosome analysis in prenatal diagnosis. This study included the chromosome analysis and BAC-based array CGH analysis of 140 amniocentesis samples with prenatal diagnosis indications. Karyotype analysis showed trisomy 21 in 4 patients, trisomy 18 in 5 patients, monosomy X in 1 patient, and other anomalies in 3 patients. The BAC-based array CGH analysis showed 4 patients with trisomy 21, 4 patients with trisomy 18, and 1 patient with monosomy X as a numerical chromosome anomaly, while partial duplication was observed in chromosome 14 in 1 case as a structural anomaly. The array CGH is the most effective method available to complement cases where chromosome analysis, a gold standard in prenatal diagnosis, proves to be insufficient. Considering the inherent limitations of both methods, complementary features should be introduced in order to be able to give the most accurate data at the right time.

  13. Metal-based particles in human amniotic fluids of fetuses with normal karyotype and congenital malformation--a pilot study.

    Science.gov (United States)

    Barošová, H; Dvořáčková, J; Motyka, O; Kutláková, K Mamulová; Peikertová, P; Rak, J; Bielniková, H; Kukutschová, J

    2015-05-01

    This study explores the inorganic composition of amniotic fluid in healthy human fetuses and fetuses with congenital malformation with a special attention to presence of metal-based solid particles. Amniotic fluid originates from maternal blood and provides fetus mechanical protection and nutrients. In spite of this crucial role, the environmental impact on the composition of amniotic fluid remains poorly studied. The samples of human amniotic fluids were obtained by amniocentesis, including both healthy pregnancies and those with congenital malformations. The samples were analysed using several techniques, including Raman microspectroscopy, scanning electron microscopy with energy-dispersed spectrometry (SEM-EDS), Fourier transform infrared spectroscopy (FTIR) and X-ray diffraction (XRD) analysis. Several metal-based particles containing barium, titanium, iron, and other elements were detected by SEM-EDS and Raman microspectroscopy. XRD analysis detected only sodium chloride as the main component of all amniotic fluid samples. Infrared spectroscopy detected protein-like organic components. Majority of particles were in form of agglomerates up to tens of micrometres in size, consisting of mainly submicron particles. By statistical analysis (multiple correspondence analysis), it was observed that groups of healthy and diagnosed fetuses form two separate groups and therefore, qualitative differences in chemical composition may have distinct biological impact. Overall, our results suggest that metal-based nanosized pollutants penetrate into the amniotic fluid and may affect human fetuses.

  14. Biological aspects and diagnosis procedures of materno-fetal transmission of HIV.

    Science.gov (United States)

    Vazeux, R

    1988-06-01

    Since an estimated 1-2 million heterosexual women in Africa are infected with human immunodeficiency virus (HIV), maternal-fetal transmission of this virus is a serious issue. At this point, the only accurate data concern the high level of virus transmission from infected mothers to the newborn (at least 40%) and the severity of infection in infants. About 50% of infected infants develop acquired immunodeficiency syndrome, generally at 6 months of age, and die by the age of 3-4 years. There have been no studies large enough to determine the time of HIV transmission--antenatal, prepartum, or postpartum? Also unclear at this point are the consequences of pregnancy for the immunological status for women infected with HIV. Amniocentesis, cord blood punction, and trophoblastic biopsy are potential means of diagnosing HIV infection prenatally; however, there is a risk of infecting the fetus by the techniques themselves, a danger of false negative results and a likelihood that HIV infection can occur later in pregnancy after the tests have been completed.

  15. A series of 238 cytomegalovirus primary infections during pregnancy: description and outcome.

    Science.gov (United States)

    Picone, O; Vauloup-Fellous, C; Cordier, A G; Guitton, S; Senat, M V; Fuchs, F; Ayoubi, J M; Grangeot Keros, L; Benachi, A

    2013-08-01

    To analyze the outcome of maternal primary cytomegalovirus (CMV) infection. Retrospective analysis of a cohort of 238 patients with maternal primary CMV infection detected at routine screening. The cases were managed with serial ultrasound (US) scans, and amniocentesis was performed in 36.1% of cases. All prenatal results were confirmed at birth. The average age was 31.9 (18-44) years. Patients were symptomatic in 21% of cases. The rate of intrauterine transmission was 24.9%, and it was 8.8%, 19%, 30.6%, 34.1% and 40% in the preconceptional period, the periconceptional period, and the first, second and third trimesters of pregnancy, respectively (p = 0.025). There was a significantly higher risk of US abnormalities when maternal infection occurred during the preconceptional or periconceptional period and the first trimester compared with later (p infected newborns were symptomatic; all three cases were suspected at US before birth. We did not observe any symptomatic fetal infection when maternal infection occurred after 14 weeks of gestation. A number of clinically asymptomatic cases (5.5%) developed hearing loss. The rate of materno fetal transmission is linearly correlated to the gestational age at infection. No severe case of congenital infection was observed if maternal infection occurred after 14 weeks of gestation. © 2013 John Wiley & Sons, Ltd.

  16. In utero infection with Treponema pallidum in early pregnancy.

    Science.gov (United States)

    Nathan, L; Bohman, V R; Sanchez, P J; Leos, N K; Twickler, D M; Wendel, G D

    1997-02-01

    Amniocentesis was performed under sonographic guidance in gravidas (gestation) with untreated syphilis. Five to ten millilitres of amniotic fluid from each patient was used for rabbit infectivity testing (RIT) and polymerase chain reaction (PCR) to detect amniotic fluid infection with Treponema pallidum. Gravidas were treated with benzathine penicillin G. Newborns were examined for clinical and laboratory signs of congenital syphilis including immunoglobulin M (IgM) antibody to T. pallidum by Western blotting (immunoblotting). Eleven patients were enrolled at a mean gestational age of 16.8 weeks. T. pallidum was recovered from amniotic fluid by RIT in four cases (36 per cent), and PCR was positive in three of the amniotic fluid specimens (27 per cent). There were no false-positive PCR results. None of the newborns had clinical evidence of congenital syphilis and their sera lacked IgM reactivity to T. pallidum antigens by immunoblotting. These findings confirm in utero infection with T. pallidum in continuing early pregnancy and indicate that in utero treponemal infection can be eradicated by maternal treatment.

  17. Secreted phospholipase A2 is increased in meconium-stained amniotic fluid of term gestations: potential implications for the genesis of meconium aspiration syndrome.

    Science.gov (United States)

    Romero, Roberto; Yoon, Bo Hyun; Chaemsaithong, Piya; Cortez, Josef; Park, Chan-Wook; Gonzalez, Rogelio; Behnke, Ernesto; Hassan, Sonia S; Gotsch, Francesca; Yeo, Lami; Chaiworapongsa, Tinnakorn

    2014-07-01

    Meconium-stained amniotic fluid (MSAF) represents the passage of fetal colonic content into the amniotic cavity. Meconium aspiration syndrome (MAS) is a complication that occurs in a subset of infants with MSAF. Secreted phospholipase A2 (sPLA2) is detected in meconium and is implicated in the development of MAS. The purpose of this study was to determine if sPLA2 concentrations are increased in the amniotic fluid of women in spontaneous labor at term with MSAF. This was a cross-sectional study of patients in spontaneous term labor who underwent amniocentesis (n = 101). The patients were divided into two study groups: (1) MSAF (n = 61) and (2) clear fluid (n = 40). The presence of bacteria and endotoxin as well as interleukin-6 (IL-6) and sPLA2 concentrations in the amniotic fluid were determined. Statistical analyses were performed to test for normality and bivariate analysis. The Spearman correlation coefficient was used to study the relationship between sPLA2 and IL-6 concentrations in the amniotic fluid. Patients with MSAF have a higher median sPLA2 concentration (ng/mL) in amniotic fluid than those with clear fluid [1.7 (0.98-2.89) versus 0.3 (0-0.6), p meconium is aspirated before birth.

  18. Antenatal Bartter Syndrome: A Review

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    Y. Ramesh Bhat

    2012-01-01

    Full Text Available Antenatal Bartter syndrome (ABS is a rare autosomal recessive renal tubular disorder. The defective chloride transport in the loop of Henle leads to fetal polyuria resulting in severe hydramnios and premature delivery. Early onset, unexplained maternal polyhydramnios often challenges the treating obstetrician. Increasing polyhydramnios without apparent fetal or placental abnormalities should lead to the suspicion of this entity. Biochemical analysis of amniotic fluid is suggested as elevated chloride level is usually diagnostic. Awareness, early recognition, maternal treatment with indomethacin, and amniocentesis allow the pregnancy to continue. Affected neonates are usually born premature, have postnatal polyuria, vomiting, failure to thrive, hypercalciuria, and subsequently nephrocalcinosis. Hypokalemia, metabolic alkalosis, secondary hyperaldosteronism and hyperreninaemia are other characteristic features. Volume depletion due to excessive salt and water loss on long term stimulates renin-angiotensin-aldosterone system resulting in juxtaglomerular hyperplasia. Clinical features and electrolyte abnormalities may also depend on the subtype of the syndrome. Prenatal diagnosis and timely indomethacin administration prevent electrolyte imbalance, restitute normal growth, and improve activity. In this paper, authors present classification, pathophysiology, clinical manifestations, laboratory findings, complications, and prognosis of ABS.

  19. Cell free fetal DNA testing in maternal blood of Romanian pregnant women

    Directory of Open Access Journals (Sweden)

    Viorica E Radoi

    2015-10-01

    Full Text Available Background: The discovery of circulating fetal DNA in maternal blood led to the discovery of new strategies to perform noninvasive testing for prenatal diagnosis. Objective: The purpose of the study was to detect fetal aneuploidy at chromosomes 13, 18, 21, X, and Y by analysis of fetal cell-free DNA from maternal blood, without endangering pregnancy. Materials and Methods: This retrospective study has been performed in Bucharest at Medlife Maternal and Fetal Medicine Department between 2013-2014. In total 201 women were offered noninvasive prenatal test. Maternal plasma samples were collected from women at greater than 9 weeks of gestation after informed consent and genetics counseling. Results: From 201 patients; 28 (13.93% had screening test with high risk for trisomy 21, 116 (57.71% had advanced maternal age, 1 (0.49% had second trimester ultrasound markers and the remaining 56 patients (27.86% performed the test on request. Of those patients, 189 (94.02% had a “low risk” result (99% risk all for trisomy 21 (T21. T21 was confirmed by amniocentesis in 1 patient and the other 4 patients declined confirmation. The 7 remaining patients (3.48% had a low fetal fraction of DNA. Conclusion: It is probably that prenatal diagnosis using fetal DNA in maternal blood would play an increasingly role in the future practice of prenatal testing because of high accuracy.

  20. Does diurnal variation affect the first trimester fetal aneuploidy screening test biochemical parameters of fetuses with normal nuchal translucency?

    Science.gov (United States)

    Karsli, Mehmet Fatih; Cakmak, Bulent; Seckin, Kerem Doga; Akkas Yilmaz, Elif; Akgul, Gurcan; Togrul, Cihan; Kucukozkan, Tuncay

    2016-01-01

    The purpose of this study was to investigate the effect of diurnal variation on biochemical results of first trimester aneuploidy screening test. A total of 2725 singleton pregnant female, who had normal fetal nuchal translucency (NT) thickness, were included in the study during this period. Individuals were divided into two groups according to the sampling time (morning group: 09:00-11:00 am and afternoon group: 02:00-04:00 pm). Hormonal parameters (free-beta human chorionic gonadotropin [free β-hCG] and pregnancy-associated plasma protein-A [PAPP-A] multiples of median [MoM] levels) of first trimester (11(+0)-13(+6) weeks) combined aneuploidy screening test were compared between morning and afternoon groups. PAPP-A MoM levels were significantly lower in the afternoon group when compared to the morning group (p = 0.001), whereas free β-hCG MoM levels were similar in the both groups (p = 0.392). Rate of high risk for Down syndrome (Combine risk >1/300) and amniocentesis ratio were found higher in the afternoon group than morning group, but there were no difference between groups for the number of fetuses with Down syndrome. Receiving the venous blood sample for first trimester aneuploidy screening test in the afternoon causes low PAPP-A MoM levels.

  1. Aneuploidy among prenatally detected neural tube defects

    Energy Technology Data Exchange (ETDEWEB)

    Hume, R.F. Jr.; Lampinen, J.; Martin, L.S.; Johnson, M.P.; Evans, M.I. [Wayne State Univ., Detroit, MI (United States)] [and others

    1996-01-11

    We have reported previously a 10% aneuploidy detection rate among 39 cases of fetal neural tube defects (NTD). Subsequently we amassed an additional experience of over 17,000 prenatal diagnosis cases over a 5-year period. During this period 106 cases of NTDs were identified; 44 with anencephaly, 62 with open spina bifida. The average maternal age of this population with NTDs was 29 years (15-40); 6 patients declined amniocentesis. Six of 100 cytogenetic studies were aneuploid; on anencephalic fetus had inherited a maternal marker chromosome, and 5 NTD cases had trisomy 18. The average maternal age of the aneuploid cases was 21 (19-40); 3 were 35 years or older. Four of 5 trisomy 18 cases had multiple congenital anomalies (MCA). The overall aneuploidy detection rate in our cohort was 5-6, while aneuploidy occurred in 2% of the isolated NTD cases, and 24% of the MCA cases. Combining the earlier experience, 4/39 aneuploidy (2 trisomy 18, 4p+, del 13q) yields an aneuploidy detection frequency of 10/145 (7%), of which most (7/10) had trisomy 18. These data support fetal karyotyping for accurate diagnosis, prognosis, and recurrence-risk counseling. 5 refs., 2 tabs.

  2. Amniotic Fluid β2- Microglobulin Measurements

    Directory of Open Access Journals (Sweden)

    Emine Aydın

    2016-02-01

    Full Text Available OBJECTIVE: To determine β2-microglobulin levels in amniotic fluid during the course of second trimester. STUDY DESIGN: One hundred patient’s amniotic fluid β2-microglobulin levels had been evaluated retrospectively (March-October 2009. The most common amniocentesis indication was advanced maternal age (33.3%. Others were; high risk result for triple test (18.5%, high risk result for double test (6.48%, ventriculomegaly (5.55%, obstetric history for fetus with down syndrome (4.62%, the presence of soft markers on ultrasound (13.8%, others (17.8%. Patients average gravida was 2.66 (range: 1-6, parity was 0.75 (range: 0-3, abortion was 0.65 (range: 0-3. RESULTS: All patients were at second trimester and the average gestational week was 17.7 (range 15- 22. Patients were divided into four groups (15th, 16th, 17-18th and 19-20th gestational weeks. We have demonstrated that amniotic fluid β2-microglobulin levels are increased progressively throughout the second trimester. We have specified normal β2-microglobulin values of each gestational week/period in order to be used in clinical practice. CONCLUSION: We have demonstrated that amnionic fluid β2-microglobulin levels are increased progressively throughout the second trimester.

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

    Science.gov (United States)

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

    2011-08-01

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

  4. Prenatal diagnosis of monosomy 17p (17p13.3-->pter) associated with polyhydramnios, intrauterine growth restriction, ventriculomegaly, and Miller-Dieker lissencephaly syndrome in a fetus.

    Science.gov (United States)

    Lin, Chin-Yi; Chen, Chih-Ping; Liau, Chiung-Ling; Su, Pen-Hua; Tsao, Teng-Fu; Chang, Tung-Yao; Wang, Wayseen

    2009-12-01

    To present the prenatal magnetic resonance imaging (MRI) and ultrasound findings of Miller-Dieker lissencephaly syndrome (MDLS) associated with chromosome 17p13.3 deletion in a fetus. A 30-year-old, primigravid woman was referred to the hospital at 31 weeks' gestation because of intrauterine growth restriction (IUGR) and polyhydramnios detected by ultrasound. The pregnancy was uneventful until 31 weeks of gestation when IUGR and polyhydramnios were first noted. Level II ultrasound at 31 weeks' gestation showed fetal biometry equivalent to 27 weeks' gestation, an amniotic fluid index of 33.4 cm, ventriculomegaly, and abnormal sulcal development with absence of gyri and sulci, and a shallow Sylvian fissure. Other organs were unremarkable. Subsequent amniocentesis revealed a 46,XY,del(17)(p13.3) karyotype. Ultrafast fetal MRI performed at 34 weeks of gestation revealed agyria/pachygyria, a figure-eight appearance of the brain, a wide and shallow Sylvian fissure, enlarged subarachnoid space, ventriculomegaly, and polyhydramnios. At 35 weeks' gestation, a 1,346-g male baby was delivered with facial dysmorphism, characteristic of MDLS. Postnatal MRI confirmed the prenatal diagnosis. Polyhydramnios, IUGR and ventriculomegaly are important prenatal ultrasound markers of MDLS. Prenatal diagnosis of these markers should include a detailed investigation of cerebral sulci and fissures, and genetic analysis for MDLS. Fetal MRI is helpful for the diagnosis of lissencephaly.

  5. Prenatal maternal plasma DNA screening for cystic fibrosis: A computer modelling study of screening performance [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Robert W. Old

    2017-10-01

    Full Text Available Background: Prenatal cystic fibrosis (CF screening is currently based on determining the carrier status of both parents. We propose a new method based only on the analysis of DNA in maternal plasma. Methods: The method relies on the quantitative amplification of the CF gene to determine the percentage of DNA fragments in maternal plasma at targeted CF mutation sites that carry a CF mutation. Computer modelling was carried out to estimate the distributions of these percentages in pregnancies with and without a fetus affected with CF. This was done according to the number of DNA fragments counted and fetal fraction, using the 23 CF mutations recommended by the American College of Medical Genetics for parental carrier testing. Results: The estimated detection rate (sensitivity is 70% (100% of those detected using the 23 mutations, the false-positive rate 0.002%, and the odds of being affected given a positive screening result 14:1, compared with 70%, 0.12%, and 1:3, respectively, with current prenatal screening based on parental carrier testing. Conclusions: Compared with current screening practice based on parental carrier testing, the proposed method would substantially reduce the number of invasive diagnostic procedures (amniocentesis or chorionic villus sampling without reducing the CF detection rate. The expected advantages of the proposed method justify carrying out the necessary test development for use in a clinical validation study.

  6. Fabricating a face: the essence of embryology in the dental curriculum.

    Science.gov (United States)

    Sperber, G H

    2003-03-01

    The current explosive growth in developmental biology, fuelled by the almost completed sequencing of the human genome, is bound to have a profound impact upon the practice of medicine and dentistry in the twenty-first century. No other discipline more accurately reflects this impact than embryology, which combines the basic and clinical sciences of genetics, ontogeny, phylogeny, teratology, and syndromology into the essence of modern medical and dental practice. The advent of in vitro fertilization, chorionic villus sampling, amniocentesis, prenatal ultrasonography, intrauterine surgery, and stem cell therapy has vaulted the previously esoteric subject of embryology into clinical consciousness. All these aforementioned procedures require an intimate knowledge of the different stages of development. The alphabet soup of acronyms that now peppers papers proclaiming the genetics and characteristics of various growth factors and cytokines (e.g., FGF, TGFalpha) are all based upon an understanding of the developmental mechanisms occurring in the embryo and subsequently in wound healing and oncology. Congenital abnormalities ranging from lethal syndromes to dental malocclusions cannot be diagnosed, treated, cured, or prognosticated upon without a sound conceptualization of embryology. Computer technology has revolutionized the understanding and teaching of embryology by portraying developmental phenomena as three-dimensional model images in sequential depictions of changes proceeding in the fourth dimension of time. Embryology must now form the essential core of the basic sciences in medical and dental curricula. Future dental practice will become rooted in the genetics and morphogenesis of facial fabrication.

  7. Maternal Plasma and Amniotic Fluid Chemokines Screening in Fetal Down Syndrome

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    Piotr Laudanski

    2014-01-01

    Full Text Available Objective. Chemokines exert different inflammatory responses which can potentially be related to certain fetal chromosomal abnormalities. The aim of the study was to determine the concentration of selected chemokines in plasma and amniotic fluid of women with fetal Down syndrome. Method. Out of 171 amniocentesis, we had 7 patients with confirmed fetal Down syndrome (15th–18th weeks of gestation. For the purpose of our control, we chose 14 women without confirmed chromosomal aberration. To assess the concentration of chemokines in the blood plasma and amniotic fluid, we used a protein macroarray, which allows the simultaneous determination of 40 chemokines per sample. Results. We showed significant decrease in the concentration of 4 chemokines, HCC-4, IL-28A, IL-31, and MCP-2, and increase in the concentration of CXCL7 (NAP-2 in plasma of women with fetal Down syndrome. Furthermore, we showed decrease in concentration of 3 chemokines, ITAC, MCP-3, MIF, and increase in concentration of 4 chemokines, IP-10, MPIF-1, CXCL7, and 6Ckine, in amniotic fluid of women with fetal Down syndrome. Conclusion. On the basis of our findings, our hypothesis is that the chemokines may play role in the pathogenesis of Down syndrome. Defining their potential as biochemical markers of Down syndrome requires further investigation on larger group of patients.

  8. Primary Genital Herpes Simplex Virus Type I in Preterm Prelabour Rupture of Membranes at 30 Weeks’ Gestation

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    Anna Dalton

    2015-01-01

    Full Text Available Background. Disseminated herpes simplex virus (HSV in the neonate is associated with significant morbidity and mortality. Current guidelines recommend caesarean in third-trimester maternal primary genital HSV outbreaks to prevent transmission from mother to fetus. In the premature fetus, however, expectant management is often necessary to reduce morbidity of prematurity. The benefit of performing caesarean after 6 hrs of rupture of membranes (ROM to reduce maternal-fetal transmission is unclear. Case. A female patient with primary genital HSV type 1 outbreak coinciding with preterm, prelabour rupture of membranes (PPROM at 30 + 3 weeks’ gestation. An immediate caesarean section was not performed after multidisciplinary team discussion due to the benefits of glucocorticoids on immune complications of prematurity. The patient had expectant management for 5 days with intravenous (IV aciclovir and then delivered an infant vaginally with disseminated neonatal HSV. Conclusion. We address the rare presentation of primary HSV infection associated with PPROM and the dilemma of how to manage these patients given the limited literature. We discuss the role of intrauterine compartment monitoring with amniocentesis, the mode of delivery when ROM has occurred for 120 hours, expectant management to reduce prematurity, and the effectiveness of aciclovir to reduce viral shedding in the prevention of neonatal HSV.

  9. Determining the role of mother race in neonatal outcome of trisomies 21, 18 and 13 using cell free DNA analysis

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    Najmie Saadati

    2016-12-01

    Full Text Available To determine the role of mother race in neonatal outcome of trisomies 21, 18 and 13 using cell free DNA (cf-DNA analysis. All women administered for a sonographic imaging at their 10-22 weeks’ gestation which were qualified for cf-DNA testing were suggested for increasing aneuploidy risk, between March 1, 2015 to March 30 , 2016. The cf-DNA analysis was conducted after women received genetic counseling in a specialty laboratory. The results were validated by amniocentesis. A total of 1992 women were screened using cf-DNA analysis. The participants were 1631 Non Arabs (Fars, Kurd, and Lor and 361 Arabs. The fetus risk for trisomy 21 in the Arab women of Arab race was two as much as Non Arab race, but trisomies 18 and 13 in women of Non Arab race were more than Arab race. The role of mother race (such as Arab and Non Arab in neonatal outcome is very important.

  10. Antenatal screening for Down syndrome: a quantitative demonstration of the improvements over the past 20 years.

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    Renshaw, Richard; Ellis, Katrina; Jacobs, Patricia; Morris, Joan

    2013-10-01

    Pregnant women who receive a high screening risk result for Down, Edwards or Patau syndrome are offered diagnostic tests that carry a procedure-related risk of miscarriage. This study quantifies the improvement in the screening tests by calculating the number of women who had such tests per syndrome diagnosis from 1991 to 2010. Routinely stored data on prenatal chorionic villus sampling (CVS) and amniocentesis samples performed from 1991 to 2010 from the Wessex Regional Genetics Laboratory in England were extracted from the laboratory database. The numbers of diagnostic tests performed per Down, Edwards or Patau syndrome diagnosis were calculated according to the type of diagnostic test, and were adjusted for maternal age and gestational age at diagnosis. A total of 32,345 CVSs and amniocenteses identified 872 diagnoses of Down syndrome and 328 of Edwards and Patau syndrome. In 1991, there were 46 (95%CI: 16-111) CVSs per syndrome diagnosis compared with five (95%CI: 4-7) in 2010. For amniocenteses, the number fell from 53 (37-78) to 15 (11-22). This analysis demonstrates the improvements in antenatal screening for Down syndrome that have been made over the past 20 years, resulting in a reduction in the number of women tested and thus in the number of foetal deaths attributable to the testing procedure.

  11. Non-invasive prenatal testing for trisomy 13: more harm than good?

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    Verweij, E J; de Boer, M A; Oepkes, D

    2014-07-01

    A 35-year-old primigravida, pregnant after in-vitro fertilization, was seen because of a trisomy 13/trisomy 18 (T13/T18) risk of 1:55, based on the result of her first-trimester combined test. She elected for non-invasive prenatal testing (NIPT) at 14 + 5 weeks' gestation, which was positive for T13. After counseling, the patient elected to undergo amniocentesis. Quantitative fluorescence polymerase chain reaction (QF-PCR) showed no signs of trisomy, and full karyotyping confirmed a normal 46,XY result. Analysis of the published literature on NIPT for T13 gives an overall detection rate of 91.6%, with a false-positive rate of 0.097%. Based on this detection rate, hypothetical calculations show that the positive predictive value is highly dependent on the prevalence of the disease, resulting in an unfavorable balance between benefit and harm in a general population. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

  12. Detection of fetal cell-free DNA in maternal plasma for Down syndrome, Edward syndrome and Patau syndrome of high risk fetus.

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    Ke, Wei-Lin; Zhao, Wei-Hua; Wang, Xin-Yu

    2015-01-01

    The study aimed to validate the efficacy of detection of fetal cell-free DNA in maternal plasma of trisomy 21, 18 and 13 in a clinical setting. A total of 2340 women at high risk for Down syndrome based on maternal age, prenatal history or a positive sesum or sonographic screening test were offered prenatal noninvasive aneuploidy test. According to the prenatal noninvasive aneuploidy test, the pregnant women at high risk were offered amniocentesis karyotype analysis and the pregnant at low risk were followed up to make sure the newborn outcome. The prenatal noninvasive aneuploidy test was positive for trisomy 21 in 17 cases, for trisomy 18 in 6 cases and for trisomy 13 in 1 case, which of all were confirmed by karyotype analysis. Newborns of low risk gestational woman detected by prenatal noninvasive aneuploidy for trisomy 21, 18, 13 were followed up and no one was found with trisomy. The prenatal noninvasive aneuploidy test is highly accurate for detection of trisomy 21, 18 and 13, which can be considered as a practical alternative for traditional invasive diagnostic procedures.

  13. 22q11 deletion syndrome and urogenital manifestationsA clinicopathological case report and review of the literatureM.Vachette MD*, GE.Grant MD*, J.Bouquet de Joliniere MD.PhD*, M. Jotterand MD** N.Ben Ali MD*, A.Feki MD.PhD * and R.Brugger MD.*Department of gynecology and obstetrics, HFR, Fribourg, Switzerland.** Institute of pathology, CHUV, Lausanne, Switzerland.

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    Jean Bouquet De Jolinière

    2016-11-01

    Full Text Available Background: Deletion in the chromosomal region 22q11 results from the abnormal development of the third and fourth pharyngeal pouches during embryonic life and presents an expansive phenotype with more than 180 clinical features described that involve every organ and system. History and Signs: A 23-year-old African woman presented for the first trimester echography, which revealed an isolated anechoic structure suggesting a ureteral dilatation. The suspicion of a malposition of great arteries in the second trimester indicated an amniocentesis leading to a diagnosis of 22q11 deletion. Outcome: At 32 weeks, the patient was admitted for premature rupture of membranes and gave birth 2 weeks later to a male newborn that presented a respiratory distress syndrome and probably died secondary to a tracheal stenosis. Necropsy revealed typical clinical features of 22q11 deletion associated with left renal agenesis, hypospadias and penile hypoplasia. Conclusions: We report a case of 22q11 deletion syndrome with typical clinical features associated with urogenital manifestations suspected at the first trimester ultrasound.

  14. Lamellar bodies: platelet channel particles as predictors of respiratory distress syndrome (RDS) and of transient tachypnea of the newborn.

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    Piazze, Juan; Cerekja, Albana

    2011-05-01

    We aimed to find a single numeric cut-off point in order to predict respiratory distress syndrome (RDS) and transient tachypnea of the newborn (TTN), through quantification of the lamellar bodies (LBs) count. Two hundred and twenty-seven single pregnancies delivered within 48 h from amniocentesis in a III level university hospital in a period between 1996 and 2007. LBs counts were determined by amniotic fluid (AF) sampling and after centrifugation in a commercially available Coulter counter. LBs counts were performed in order to predict the risk of neonatal RDS and also evaluated against the risk of TTN by means of the most suitable receiver operator characteristic (ROC) curve in order to predict RDS and TTN. The best LBs cut-off to significantly predict TTN was ≤ 35,000/μL [sensitivity 86%, specificity 75%, positive predictive value (PPV) 22% and negative predictive value (NPV) at 96%]. An LBs count ≤ 32,000/μL was the best compromise between sensitivity and specificity in predicting RDS or TTN [sensitivity 86%, specificity 83%, PPV 37% and NPV at 97%]. The quantification of LBs is a reliable method, simple to execute, useful in predicting RDS, and may be useful in evaluating suspicion of TTN.

  15. Perinatal Diagnostic Approach to Fetal Skeletal Dysplasias: Six Years Experience of a Tertiary Center.

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    Toru, Havva Serap; Nur, Banu Guzel; Sanhal, Cem Yasar; Mihci, Ercan; Mendilcioğlu, İnanç; Yilmaz, Elanur; Yilmaz, Gulden Tasova; Ozbudak, Irem Hicran; Karaali, Kamil; Alper, Ozgul M; Karaveli, Fatma Şeyda

    2015-01-01

    Skeletal dysplasias (SDs) constitute a group of heterogeneous disorders affecting growth morphology of the chondro-osseous tissues. Prenatal diagnosis of SD is a considerable clinical challenge due to phenotypic variability. We performed a retrospective analysis of the fetal autopsies series conducted between January 2006 and December 2012 at our center. SD was detected in 54 (10%) out of 542 fetal autopsy cases which included; 11.1% thanatophoric dysplasia (n = 6), 7.4% achondroplasia (n = 4), 3.7% osteogenesis imperfect (n = 2), 1.9% Jarcho-Levin Syndrome (n = 1), 1.9% arthrogryposis (n = 1), 1.9% Dyggve-Melchior-Clausen syndrome (n = 1), 72.1% of dysostosis cases (n = 39). All SD cases were diagnosed by ultrasonography. In 20 of the cases, amniocentesis was performed, 4 cases underwent molecular genetic analyses. Antenatal identification of dysplasia is important in the management of pregnancy and in genetic counseling. Our data analysis showed that SD is usually detected clinically after the 20th gestational week. Genetic analyses for SD may provide early diagnosis and management.

  16. Sequence and Timing of Intracranial Changes in Cytomegalovirus in Pregnancy: A Case Report and Literature Review

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    Cynthia O’Sullivan

    2017-01-01

    Full Text Available Cytomegalovirus (CMV is the most common cause of intrauterine infection, occurring in up to 2% of all live births. Most women are asymptomatic or experience nonspecific symptoms, which can lead to long-term sequelae in newborns including neurological impairment, hearing loss, and mental retardation. A 41-year-old woman (G6 P2, with a medical history of epilepsy, presented for her routine anomaly scan at 20 + 4/40. A single finding of echogenic bowel was noted on ultrasound which prompted a full investigation. A repeat ultrasound only five days later demonstrated progressive changes, which included bilateral ventriculomegaly with oedema of the posterior ventricular wall, periventricular hyperechogenicity, and enlargement of the cisterna magna. CMV DNA was detected at amniocentesis. Ultrasound findings are not diagnostic for CMV with only 11–15% of at-risk fetuses being identified. Unfortunately, these findings may be the only indication of an abnormality. There is a well-documented lack of awareness surrounding CMV and screening is not routinely offered. Given the risk to the pregnancy of CMV and to subsequent pregnancies, simple education at the start of a pregnancy could significantly reduce the incidence of maternal CMV.

  17. Comparative proteomic analysis of human amniotic fluid supernatants with Down syndrome using mass spectrometry.

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    Park, Jisook; Cha, Dong-Hyun; Jung, Jin Woo; Kim, Young Hwan; Lee, Sook Hwan; Kim, Youngjun; Kim, Kwang Pyo

    2010-06-01

    Down syndrome (DS) is an abnormality of the 21st chromosome that commonly occurs in children born to advanced age women. Amniotic fluid (AF) is usually collected from such women for prenatal diagnosis. This study analyzed human AF supernatants (AFS) by mass spectrometric (MS) approach to search for candidate biomarkers of DS pregnancy. AFS were collected from advanced age pregnant women at 16-18th weeks of gestation by amniocentesis for cytogenetic analysis. AFS from pregnancies carrying DS (n=4) or chromosomally normal (n=6) fetuses, as revealed by cytogenetic analysis, were then subjected to global protein profiling by liquid chromatography-electrospray ionization-tandem mass spectrometry (LC-ESI-MS/MS). Affinity chromatography was applied prior to LC-ESI-MS/MS to minimize the masking effect of highly abundant albumin and immunoglobulin and thereby, increased the diversity of identified proteins. Hereby, at least 30 AFS proteins were newly identified and 44 AFS proteins were found to be differentially expressed between DS and normal cases. Six of these proteins were unique to DS cases while 11 proteins were unique to chromosomally normal cases. In addition, 19 AFS proteins were down-regulated and 8 were up-regulated in DS cases with varying fold changes. A western blot analysis confirmed the LC-ESI-MS/MS data that combined detection of Apolipoprotein A-II (apo A-II) and alpha-fetoprotein (AFP) could be a potential tool for diagnosing DS cases.

  18. De novo complex intra chromosomal rearrangement after ICSI: characterisation by BACs micro array-CGH

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    Quimsiyeh Mazin

    2008-12-01

    Full Text Available Abstract Background In routine Assisted Reproductive Technology (ART men with severe oligozoospermia or azoospermia should be informed about the risk of de novo congenital or chromosomal abnormalities in ICSI program. Also the benefits of preimplantation or prenatal genetic diagnosis practice need to be explained to the couple. Methods From a routine ICSI attempt, using ejaculated sperm from male with severe oligozoospermia and having normal karyotype, a 30 years old pregnant woman was referred to prenatal diagnosis in the 17th week for bichorionic biamniotic twin gestation. Amniocentesis was performed because of the detection of an increased foetal nuchal translucency for one of the fetus by the sonographic examination during the 12th week of gestation (WG. Chromosome and DNA studies of the fetus were realized on cultured amniocytes Results Conventional, molecular cytogenetic and microarray CGH experiments allowed us to conclude that the fetus had a de novo pericentromeric inversion associated with a duplication of the 9p22.1-p24 chromosomal region, 46,XY,invdup(9(p22.1p24 [arrCGH 9p22.1p24 (RP11-130C19 → RP11-87O1x3]. As containing the critical 9p22 region, our case is in coincidence with the general phenotype features of the partial trisomy 9p syndrome with major growth retardation, microcephaly and microretrognathia. Conclusion This de novo complex chromosome rearrangement illustrates the possible risk of chromosome or gene defects in ICSI program and the contribution of array-CGH for mapping rapidly de novo chromosomal imbalance.

  19. Unexpected suppression of anti-Fya and prevention of hemolytic disease of the fetus and newborn after administration of Rh immune globulin.

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    Branch, Donald R; Scofield, Terry L; Moulds, John J; Swanson, Jane L

    2011-04-01

    Rh immune globulin (RhIG) has been used successfully for many years for the antenatal suppression of anti-D in D- mothers carrying D+ babies to prevent hemolytic disease of the fetus and newborn. Although the mechanism of RhIG-induced immunosuppression remains unknown, a recent report (TRANSFUSION 2006;46:1316-22) has shown that women receiving RhIG produce elevated levels of transforming growth factor (TGF)β-1, a powerful immunosuppressant cytokine. It was suggested that induction of TGFβ-1 and immunosuppression may be independent of cognate antigen recognition by RhIG. Herein, we present a description of a mother and baby that supports this hypothesis. Red blood cells and serum were analyzed using saline-tube indirect antiglobulin test methods. RhIG (RhoGAM) was administered after each amniocentesis performed at 28, 31, and 36 weeks' gestation. A group A, D-(cde), K+, Fy(a-b+), MNs, Jk(a+b+) mother with no detectable anti-D had an anti-Fy(a) titer of 4096 before RhIG but only 256 after RhIG. Mother gave birth to a group O, D-(cde), Fy(a+b+) healthy baby boy having a weak-positive direct antiglobulin test with anti-Fy(a) eluted from his cells and the titer in the cord serum was 4. This case demonstrates the potential immunosuppressive properties of RhIG for down regulation of a possible clinically significant alloantibody, not anti-D, where no D+ antigen is in the circulation of the mother. The case illustrates the potential utility for using RhIG to modulate antibody levels in situations other than for classical suppression of anti-D production. Although the mechanism in this case is unknown, TGFβ-1-mediated or antibody-mediated immunosuppression to soluble nonparticulate antigens are possible mechanisms. © 2010 American Association of Blood Banks.

  20. Feminist discourse on sex screening and selective abortion of female foetuses.

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    Moazam, Farhat

    2004-06-01

    Although a preference for sons is reportedly a universal phenomenon, in some Asian societies daughters are considered financial and cultural liabilities. Increasing availability of ultrasonography and amniocentesis has led to widespread gender screening and selective abortion of normal female foetuses in many countries, including India. Feminists have taken widely divergent positions on the morality of this practice. Feminists from India have strongly opposed it, considering it as a further disenfranchisement of females in their patriarchal society, and have agitated successfully for legislative prohibitions. Libertarian feminists on the other hand, primarily from the United States, have argued that any prohibition of the use of this technology is a curtailment of a woman's reproductive choices and a violation of her right to make autonomous decisions regarding procreation. Using India as an illustrative case, this paper argues that in the context of what prevails in some societies, an ethical argument that hinges on the principle of autonomy as understood in the West can be problematic. Furthermore, a liberal theoretical assumption that it is always better to have more rather than fewer choices may not hold up well against the realities of life for such women. Although feminists have little disagreement concerning substantive matters, it is in the area of strategy that differences of opinion have arisen, their moral reasoning and responses shaped by the culture, ethnicity, class and race to which they belong. A view that a single 'orthodox' feminism of any variety can embody the aspiration of all women reverts to the problematic issues in the evolution of the rationalistic, individualistic, 'male' ethics against which women have consistently raised objections.

  1. Congenital parasitic infections: a review.

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    Carlier, Yves; Truyens, Carine; Deloron, Philippe; Peyron, François

    2012-02-01

    This review defines the concepts of maternal-fetal (congenital) and vertical transmissions (mother-to-child) of pathogens and specifies the human parasites susceptible to be congenitally transferred. It highlights the epidemiological features of this transmission mode for the three main congenital parasitic infections due to Toxoplasma gondii, Trypanosoma cruzi and Plasmodium sp. Information on the possible maternal-fetal routes of transmission, the placental responses to infection and timing of parasite transmission are synthesized and compared. The factors susceptible to be involved in parasite transmission and development of congenital parasitic diseases, such as the parasite genotypes, the maternal co-infections and parasitic load, the immunological features of pregnant women and the capacity of some fetuses/neonates to overcome their immunological immaturity to mount an immune response against the transmitted parasites are also discussed and compared. Analysis of clinical data indicates that parasitic congenital infections are often asymptomatic, whereas symptomatic newborns generally display non-specific symptoms. The long-term consequences of congenital infections are also mentioned, such as the imprinting of neonatal immune system and the possible trans-generational transmission. The detection of infection in pregnant women is mainly based on standard serological or parasitological investigations. Amniocentesis and cordocentesis can be used for the detection of some fetal infections. The neonatal infection can be assessed using parasitological, molecular or immunological methods; the place of PCR in such neonatal diagnosis is discussed. When such laboratory diagnosis is not possible at birth or in the first weeks of life, standard serological investigations can also be performed 8-10 months after birth, to avoid detection of maternal transmitted antibodies. The specific aspects of treatment of T. gondii, T. cruzi and Plasmodium congenital infections are

  2. The girl child and the family.

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    Mojumdar, M

    The appalling conditions of the Hindu, Muslim, Christian, and Sikh female children in India are emphasized. There is systematic neglect and exploitation of girls from birth through death. Dowries are still expected at the time of marriage and for years to come, regardless of the illegality. Within marriage, there is cruelty and insult, and even bride killing, known as dowry death. Parents can be accomplices in permitting the injury to begin or continue with impunity. Patience and tolerance is expected of daughters; the husband is the commanding presence. Spinsterhood is shameful. Suicide is a viable option for widowhood. Over the 40 years of freedom from British rule, antiquated norms and superstitions persist. Fundamentalism in increasing. A daughter is pitied at birth and a mother is blamed. Mothers-in-law are notorious for the blaming. These beliefs occur in spite of scientific evidence that it is the male who carries the chromosome in the sperm for sex determination. A modern practice helps to perpetuate female infanticide: amniocentesis and abortion. When food shortages occur, the pecking order favors males over pregnant women and children. Illiteracy is high among girls, who are kept home and given household chores. Better education is given to males even in middle class homes. Peer pressure and societal attitudes maintain the subservience of females. Orphanages are filled with unwanted female babies. The rape of a girl is considered shameful for life, while the rape of a boy is disregarded as unfortunate and forgotten. Expectations are that boys will be decision makers and girls can cope with domestic matters. The brainwashing to inferiority continues until the son marries and is then perpetuated.

  3. [New approaches to prenatal diagnosis of rhesus incompatibility].

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    Minon, J M; Gérard, C; Dricot, J F; Neve, C; Senterre, J M; Schaaps, J P; Foidart, J M

    2006-11-01

    Despite generalisation of anti-D immunoprophylaxis, RhD allo-immunisation still remains the major cause of severe haemolytic disease of the fetus and of the newborn (HDFN). The routine follow up of pregnant women comprises: the ABO/D, Rh/Kell red cells typing and the search for irregular antibodies. In case of anti-D immunisation, the paternal Rh phenotype, when known, provides useful information regarding the probability for the fetus to have inherited the D antigen and thereby to be exposed to the risk of HDFN. The antibody titre, which is predictive of possible in vivo haemolysis, must be interpreted in the light of the previous obstetric history, and can lead to the decision of invasive amniocentesis. Then the measurement of the optical density (deltaOD450 nm) and the fetal RhD typing can be realised on amniotic fluid. New molecular techniques make it possible now to demonstrate the presence of fetal DNA in maternal plasma. These methods lying on non invasive procedures could advantageously be applied to the genotyping of fetal RHD during pregnancy. The present paper aims to discuss the predictive values of RHD fetal genotype in maternal plasma of RhD negative mothers. The ante-partum management of immunised pregnant women is reviewed in the light of this new molecular approach combined to Doppler ultrasonography of the fetal middle cerebral artery. This non invasive method for determining fetal RHD genotype could be systematically proposed to all RhD negative pregnant women for a better targeted prenatal follow-up and an increased efficacy of RhD prophylaxis.

  4. Normal reference range of fetal nuchal translucency thickness in pregnant women in the first trimester, one center study

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    Marzeie Sharifzadeh

    2015-01-01

    Full Text Available Background: Considering that establishment of reference value of nuchal translucency (NT-related to the crown rump length (CRL during the first trimester will be helpful for determining an appropriate cutoff level for screening of increased NT thickness-related abnormalities, we determined the NT thickness and investigated its relation with different chromosomal and nonchromosomal abnormalities among a large sample size of pregnant Iranian women. Materials and Methods: In this analytic cross-sectional study, pregnant women who were in their first trimester were enrolled at their antenatal visit. Using an abdominal ultrasonography, the fetal NT thickness of the studied population was measured. Those with increased NT thickness were determined. The reference value of NT thickness (5th, 25th, 50th, 75th, and 95th percentiles within each 5-mm range of CRL and during the 11th, 12th, and 13th gestational weeks were determined. The presences of the different chromosomal and nonchromosomal abnormalities were compared in women with different percentiles of NT thickness who underwent amniocentesis and those who did not. Results: 1,614 pregnant women were evaluated. The mean NT thickness was 1.30 ± 0.54 mm. Increased NT thickness >2 mm and >95th percentile according to their gestational age (GA was detected in 89 (5.5% and 58 (3.6% pregnant women. The reference 95th percentile value range for NT was 1.8-2.35 and increased NT thickness according to our obtained values was associated significantly with chromosomal abnormalities. Conclusion: The obtained reference range in our studied population was different from that reported for other ethnic groups and it is suggested that using this values are more favorable for screening of chromosomal abnormalities during the first trimester of pregnancy than the recommended single cutoff value.

  5. Normal reference range of fetal nuchal translucency thickness in pregnant women in the first trimester, one center study

    Science.gov (United States)

    Sharifzadeh, Marzeie; Adibi, Atoosa; Kazemi, Kimia; Hovsepian, Silva

    2015-01-01

    Background: Considering that establishment of reference value of nuchal translucency (NT)-related to the crown rump length (CRL) during the first trimester will be helpful for determining an appropriate cutoff level for screening of increased NT thickness-related abnormalities, we determined the NT thickness and investigated its relation with different chromosomal and nonchromosomal abnormalities among a large sample size of pregnant Iranian women. Materials and Methods: In this analytic cross-sectional study, pregnant women who were in their first trimester were enrolled at their antenatal visit. Using an abdominal ultrasonography, the fetal NT thickness of the studied population was measured. Those with increased NT thickness were determined. The reference value of NT thickness (5th, 25th, 50th, 75th, and 95th percentiles) within each 5-mm range of CRL and during the 11th, 12th, and 13th gestational weeks were determined. The presences of the different chromosomal and nonchromosomal abnormalities were compared in women with different percentiles of NT thickness who underwent amniocentesis and those who did not. Results: 1,614 pregnant women were evaluated. The mean NT thickness was 1.30 ± 0.54 mm. Increased NT thickness >2 mm and >95th percentile according to their gestational age (GA) was detected in 89 (5.5%) and 58 (3.6%) pregnant women. The reference 95th percentile value range for NT was 1.8-2.35 and increased NT thickness according to our obtained values was associated significantly with chromosomal abnormalities. Conclusion: The obtained reference range in our studied population was different from that reported for other ethnic groups and it is suggested that using this values are more favorable for screening of chromosomal abnormalities during the first trimester of pregnancy than the recommended single cutoff value. PMID:26929762

  6. [Advantages and limitations of chorionic villous sampling].

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    Carles, Dominique; Pelluard, Fanny; Mangione, Raphalle; Liquier, Alain; Horovitz, Jacques; Saura, Robert

    2009-03-01

    Chorionic villous sampling (CVS) has been available for more than twenty years. Together with amniocentesis, it helps the cytogenetician to determine the fetal karyotype for prenatal diagnosis. The choice between these two methods depends on the team and the indication. CVS can now provide sufficient material for both histopathologic and cytogenetic analyses. We evaluated the accuracy of microscopic examination of CVS for detecting primary ovular, uteroplacental vascular (preeclampsia) and inflammatory disorders. Four hundred CVS were examined in the pathology laboratory of Pellegrin Hospital, Bordeaux, France, from January 1995 to February 2008. The results were analyzed according to the indication, the karyotype, the results of placental examination, pregnancy outcome and, when available (following spontaneous or medical termination), fetoplacental findings. The sample was representative of patients requiring CVS for prenatal diagnosis, with respect to maternal age, the stage of pregnancy, and the indications. When used to screen for preeclamsia (prevalence 29.6% in the sample), the sensitivity and specificity of placental biopsy were respectively 56.8% and 87.2% (76.9% in case of intra-uterine growth retardation). When used to screen for chromosomal aberrations (prevalence 7.4%), the specificity was 14.3% and the sensitivity 93.2%. The prevalence of other disorders, and particularly chronic intervillitis, was too low for meaningful analysis. This study shows that histopathologic analysis of chorionic villous samples is useful for detecting the utero-placental vascular origin of intrauterine growth retardation in the absence of other clinical, biological or ultrasound signs, and that it is complementary to cytogenetic analysis. Being a simple and inexpensive examination, histopathologic analysis of CVS could be performed systematically in this indication. Its value and diagnostic signs in other settings need to be determined in larger series.

  7. Survey of prenatal counselling practices regarding aneuploidy risk modification, invasive diagnostic procedure risks, and procedure eligibility criteria in Canadian centres.

    Science.gov (United States)

    Hull, Danna; Davies, Gregory; Armour, Christine M

    2012-07-01

    To explore prenatal practices related to aneuploidy screening, risk modification, and invasive diagnostic procedures across Canadian centres. We conducted a survey of members of the Canadian Association of Genetic Counsellors, the Canadian College of Medical Genetics, and the Canadian Society of Maternal Fetal Medicine, who provide direct counselling or management of prenatal patients in Canada. Eighty-two of 157 respondents indicated that their centre's definition of advanced maternal age was ≥ 35 years, with 33/157 respondents reporting an advanced maternal age definition of ≥ 40 years. The majority of respondents reported that prenatal serum screening for aneuploidy is provincially funded in their province or territory (121/147). The majority of respondents who reported that prenatal screening is not provincially funded (17/147) were from Quebec (14/17). Thirty-nine of 123 respondents reported that their centre defines increased nuchal translucency as ≥ 3.0 mm, whereas 49/123 reported a definition of ≥ 3.5 mm. Sixty-four of 150 respondents reported that the aneuploidy risk provided by serum screening is modified by a soft marker likelihood ratio, whereas 46/150 respondents reported that both age-related and serum screening risks are modified. Fifty-nine of 124 respondents reported that their centre will modify aneuploidy risk after a normal ultrasound; the most commonly cited negative likelihood ratio was 0.5. The most commonly reported procedure-related risk for chorionic villus sampling was 1/100 (123/147) and for amniocentesis was 1/200 (73/142). This study demonstrates inconsistencies in prenatal practices and access to screening programs across Canada. The information gained from this study will inform policy advisors developing prenatal practice guidelines at both the provincial and national levels.

  8. Demographic profile of the girl child in India.

    Science.gov (United States)

    Unisa, S

    1995-01-01

    This article presents a statistical profile of the demographic and socioeconomic characteristics of female children in India during 1951-91. The population 0-14 years old increased during 1951-81. In 1991, there were 52-55 million children 0-4 years old. 40% of all women were 0-14 years old, 19% of the total population in 1991. Boys outnumbered girls at all childhood ages. Males gained more in mortality improvements than girls did over time. The decline in the 1991 sex ratio is attributed to female amniocentesis and differences in undercounts. Infant mortality was high and fluctuated prior to 1941. Rates thereafter declined below 200. Infant mortality improved considerably after the 1950s. The 1988 infant mortality rate (IMR) was 95 for males and 93 for females per 1000 live births. A higher female IMR during 1972-87 is attributed to low female status, sex bias in health care, and higher female rates of common childhood diseases. Boys are breast fed longer. Child marriage below the age of 14 years declined over time. In 1981, 93% of girls 0-14 years old were unmarried. The singulate mean age of marriage increased from 15.59 years in 1951 to 18.32 years in 1981. Literacy rates increased for both males and females during 1961-81 and increased rapidly during 1981-91. The gap between male educational levels and female educational levels was narrowing. School attendance was 62.07% among 10-14 year old boys and 37.47% among 10-14 year old girls. Kerala state was the only state where girls have very high attendance rates. School attendance among 10-14 year old children was positively correlated with higher budget allocations and the average cost per student. School attendance was negatively correlated with illiteracy among household members. In rural areas, girl's attendance was related to access to primary school facilities and roads.

  9. Accuracy of real-time polymerase chain reaction for Toxoplasma gondii in amniotic fluid.

    Science.gov (United States)

    Wallon, Martine; Franck, Jacqueline; Thulliez, Philippe; Huissoud, Cyril; Peyron, François; Garcia-Meric, Patricia; Kieffer, François

    2010-04-01

    To provide clinicians with information about the accuracy of real-time polymerase chain reaction (PCR) analysis of amniotic fluid for the prenatal diagnosis of congenital Toxoplasma infection. This was a prospective cohort study of women with Toxoplasma infection identified by prenatal screening in three centers routinely carrying out real-time PCR for the detection of Toxoplasma gondii in amniotic fluid. The data available were gestational age at maternal infection, types and dates of maternal treatment, results of amniocentesis and neonatal work-up and definitive infectious status of the child. We estimated sensitivity, specificity and positive and negative predictive values both overall and per trimester of pregnancy at the time of maternal infection. Polymerase chain reaction analysis was carried out on amniotic fluid for 261 of the 377 patients included (69%). It was accurate with the exception of four negative results in children who were infected. Overall sensitivity and negative predictive value were 92.2% (95% confidence interval [CI] 81-98%) and 98.1% (95% CI 95-99.5%), respectively. There was no significant association with the trimester of pregnancy during which maternal infection occurred. Specificity and positive predictive values of 100% were obtained for all trimesters. Real-time PCR analysis significantly improves the detection of T. gondii on amniotic fluid. It provides an accurate tool to predict fetal infection and to decide on appropriate treatment and surveillance. However, postnatal follow-up remains necessary in the first year of life to fully exclude infection in children for whom PCR results were negative. III.

  10. Huntington's disease: a clinical review

    Directory of Open Access Journals (Sweden)

    Roos Raymund AC

    2010-12-01

    Full Text Available Abstract Huntington disease (HD is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Prevalence in the Caucasian population is estimated at 1/10,000-1/20,000. Mean age at onset of symptoms is 30-50 years. In some cases symptoms start before the age of 20 years with behavior disturbances and learning difficulties at school (Juvenile Huntington's disease; JHD. The classic sign is chorea that gradually spreads to all muscles. All psychomotor processes become severely retarded. Patients experience psychiatric symptoms and cognitive decline. HD is an autosomal dominant inherited disease caused by an elongated CAG repeat (36 repeats or more on the short arm of chromosome 4p16.3 in the Huntingtine gene. The longer the CAG repeat, the earlier the onset of disease. In cases of JHD the repeat often exceeds 55. Diagnosis is based on clinical symptoms and signs in an individual with a parent with proven HD, and is confirmed by DNA determination. Pre-manifest diagnosis should only be performed by multidisciplinary teams in healthy at-risk adult individuals who want to know whether they carry the mutation or not. Differential diagnoses include other causes of chorea including general internal disorders or iatrogenic disorders. Phenocopies (clinically diagnosed cases of HD without the genetic mutation are observed. Prenatal diagnosis is possible by chorionic villus sampling or amniocentesis. Preimplantation diagnosis with in vitro fertilization is offered in several countries. There is no cure. Management should be multidisciplinary and is based on treating symptoms with a view to improving quality of life. Chorea is treated with dopamine receptor blocking or depleting agents. Medication and non-medical care for depression and aggressive behavior may be required. The progression of the disease leads to a complete dependency in daily life, which

  11. Proteomic Analysis of Early Mid-Trimester Amniotic Fluid Does Not Predict Spontaneous Preterm Delivery

    Science.gov (United States)

    Lenco, Juraj; Vajrychova, Marie; Link, Marek; Tambor, Vojtech; Liman, Victor; Bullarbo, Maria; Nilsson, Staffan; Tsiartas, Panagiotis; Cobo, Teresa; Kacerovsky, Marian; Jacobsson, Bo

    2016-01-01

    Objective The aim of this study was to identify early proteomic biomarkers of spontaneous preterm delivery (PTD) in mid-trimester amniotic fluid from asymptomatic women. Methods This is a case-cohort study. Amniotic fluid from mid-trimester genetic amniocentesis (14–19 weeks of gestation) was collected from 2008 to 2011. The analysis was conducted in 24 healthy women with subsequent spontaneous PTD (cases) and 40 randomly selected healthy women delivering at term (controls). An exploratory phase with proteomics analysis of pooled samples was followed by a verification phase with ELISA of individual case and control samples. Results The median (interquartile range (IQR: 25th; 75th percentiles) gestational age at delivery was 35+5 (33+6–36+6) weeks in women with spontaneous PTD and 40+0 (39+1–40+5) weeks in women who delivered at term. In the exploratory phase, the most pronounced differences were found in C-reactive protein (CRP) levels, that were approximately two-fold higher in the pooled case samples than in the pooled control samples. However, we could not verify these differences with ELISA. The median (25th; 75th IQR) CRP level was 95.2 ng/mL (64.3; 163.5) in women with spontaneous PTD and 86.0 ng/mL (51.2; 145.8) in women delivering at term (p = 0.37; t-test). Conclusions Proteomic analysis with mass spectrometry of mid-trimester amniotic fluid suggests CRP as a potential marker of spontaneous preterm delivery, but this prognostic potential was not verified with ELISA. PMID:27214132

  12. Compartmentalization of acute phase reactants Interleukin-6, C-Reactive Protein and Procalcitonin as biomarkers of intra-amniotic infection and chorioamnionitis.

    Science.gov (United States)

    Dulay, Antonette T; Buhimschi, Irina A; Zhao, Guomao; Bahtiyar, Mert O; Thung, Stephen F; Cackovic, Michael; Buhimschi, Catalin S

    2015-12-01

    The arsenal of maternal and amniotic fluid (AF) immune response to local or systemic infection includes among others the acute-phase reactants IL-6, C-Reactive Protein (CRP) and Procalcitonin (PCT). If these molecules can be used as non-invasive biomarkers of intra-amniotic infection (IAI) in the subclinical phase of the disease remains incompletely known. We used time-matched maternal serum, urine and AF from 100 pregnant women who had an amniocentesis to rule out IAI in the setting of preterm labor, PPROM or systemic inflammatory response (SIR: pyelonephritis, appendicitis, pneumonia) to infection. Cord blood was analyzed in a subgroup of cases. We used sensitive immunoassays to quantify the levels of inflammatory markers in the maternal blood, urine and AF compartment. Microbiological testing and placental pathology was used to establish infection and histological chorioamnionitis. PCT was not a useful biomarker of IAI in any of the studied compartments. Maternal blood IL-6 and CRP levels were elevated in women with subclinical IAI. Compared to clinically manifest chorioamnionitis group, women with SIR have higher maternal blood IL-6 levels rendering some marginal diagnostic benefit for this condition. Urine was not a useful biological sample for assessment of IAI using either of these three inflammatory biomarkers. In women with subclinical IAI, the large overlapping confidence intervals and different cut-offs for the maternal blood levels of IL-6, CRP and PCT likely make interpretation of their absolute values difficult for clinical decision-making. Copyright © 2015 Elsevier Ltd. All rights reserved.

  13. Skeletal abnormalities in fetuses with Down`s syndrome: a radiographic post-mortem study

    Energy Technology Data Exchange (ETDEWEB)

    Stempfle, N.; Brisse, H. [Department of Radiology, R. Debre Hospital, Paris (France); Huten, Y.; Fredouille, C.; Nessmann, C. [Department of Developmental Biology, R. Debre Hospital, Paris (France)

    1999-09-01

    Objective. To evaluate skeletal abnormalities on post-mortem radiographs of fetuses with Down`s syndrome. Materials and methods. Biometrical and morphological criteria, which are used for US prenatal detection of trisomy 21, were assessed. Limb long bones, biparietal diameter (BPD)/occipito-frontal diameter (OFD) ratio, ossification of nasal bones and appearance of the middle phalanx of the fifth digit (P2) in 60 fetuses with Down`s syndrome were analysed and compared with 82 normal fetuses matched for gestational age (GA) from 15 to 40 weeks` gestation (WG). Results. We observed reduced growth velocity of limb long bones during the third trimester in both groups, but the reduction was more pronounced in the trisomic group. Brachycephaly was found as early as 15 WG in Down`s syndrome and continued throughout gestation (sensitivity 0.28, specificity 1). Ossification of the nasal bones, which can be detected in normal fetuses from 14 WG, was absent in one quarter of trisomic fetuses, regardless of GA. The middle phalanx of the fifth digit was evaluated by comparison with the distal phalanx (P3) of the same digit. We found that P2 was not ossified in 11/31 trisomic fetuses before 23 WG, and was either not ossified or hypoplastic in 17/29 cases after 24 WG (sensitivity 0.56, specificity 1). Conclusions. Three key skeletal signs were present in trisomic fetuses: brachycephaly, absence of nasal bone ossification, and hypoplasia of the middle phalanx of the fifth digit. All these signs are appropriate to prenatal US screening. When present, they fully justify determination of the fetal karyotype by amniocentesis. (orig.) With 7 figs., 1 tab., 25 refs.

  14. Current status in non-invasive prenatal detection of Down syndrome, trisomy 18, and trisomy 13 using cell-free DNA in maternal plasma.

    Science.gov (United States)

    Langlois, Sylvie; Brock, Jo-Ann

    2013-02-01

    To provide a review of published studies on the use of cell-free fetal DNA in maternal plasma for the non-invasive diagnosis of Down syndrome, trisomy 18, and trisomy 13. PubMed was searched for articles published between 2006 and October 2012, using appropriate key words (e.g., non-invasive prenatal diagnosis, Down syndrome, cell-free fetal DNA, aneuploidy screening). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies. Searches were updated on a regular basis and incorporated in the guideline to October 31, 2012. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. The studies reviewed were classified according to criteria described by the Canadian Task Force on Preventive Health Care, and the recommendations for practice were ranked according to this classification (Table 1). Recommendations 1. Non-invasive prenatal testing using massive parallel sequencing of cell-free fetal DNA to test for trisomies 21, 18, and 13 should be an option available to women at increased risk in lieu of amniocentesis. Pretest counselling of these women should include a discussion of the limitations of non-invasive prenatal testing. (II-2A) 2. No irrevocable obstetrical decision should be made in pregnancies with a positive non-invasive prenatal testing result without confirmatory invasive diagnostic testing. (II-2A) 3. Although testing of cell-free fetal DNA in maternal plasma appears very promising as a screening test for Down syndrome and other trisomies, studies in average-risk pregnancies and a significant reduction in the cost of the technology are needed before this can replace the current maternal screening approach using biochemical serum markers with or without fetal

  15. Prevalence and Clinical Significance of Sterile Intra-amniotic Inflammation in Patients with Preterm Labor and Intact Membranes

    Science.gov (United States)

    Romero, Roberto; Miranda, Jezid; Chaiworapongsa, Tinnakorn; Korzeniewski, Steven J.; Chaemsaithong, Piya; Gotsch, Francesca; Dong, Zhong; Ahmed, Ahmed I.; Yoon, Bo Hyun; Hassan, Sonia S.; Kim, Chong J.; Yeo, Lami

    2014-01-01

    Problem Inflammation and infection play a major role in preterm birth. The purpose of this study was to: 1) determine the prevalence and clinical significance of sterile intra-amniotic inflammation; and 2) examine the relationship between amniotic fluid (AF) concentrations of high mobility group box-1 (HMGB1) and the interval from amniocentesis-to-delivery in patients with sterile intra-amniotic inflammation. Method of Study AF samples obtained from 135 women with preterm labor and intact membranes were analyzed using cultivation techniques as well as broad-range PCR and mass spectrometry (PCR/ESI-MS). Sterile intra-amniotic inflammation was defined when patients with negative AF cultures and without evidence of microbial footprints had intra-amniotic inflammation (AF interleukin-6 ≥ 2.6 ng/mL). Results 1) The frequency of sterile intra-amniotic inflammation was significantly greater than that of microbial-associated intra-amniotic inflammation [26% (35/135) vs. 11% (15/135); (p=0.005)]; 2) patients with sterile intra-amniotic inflammation delivered at comparable gestational ages, had similar rates of acute placental inflammation and adverse neonatal outcomes as patients with microbial-associated intra-amniotic inflammation; and 3) patients with sterile intra-amniotic inflammation and high AF concentrations of HMGB1 (≥ 8.55 ng/mL) delivered earlier than those with low AF concentrations of HMGB1 (p=0.02). Conclusions 1) sterile intra-amniotic inflammation is more frequent than microbial-associated intra-amniotic inflammation; and 2) we propose that danger signals participate in sterile intra-amniotic inflammation in the setting of preterm labor. PMID:25078709

  16. Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study.

    Science.gov (United States)

    Halliday, Jane L; Muller, Cecile; Charles, Taryn; Norris, Fiona; Kennedy, Joanne; Lewis, Sharon; Meiser, Bettina; Donath, Susan; Stark, Zornitza; McGillivray, George; Menezes, Melody; Smith, Sian K; Forster, Della; Walker, Susan; Pertile, Mark; Amor, David J

    2018-02-06

    This study aimed to examine the choice pregnant women make about the amount of fetal genetic information they want from chromosome microarray. Women having invasive prenatal testing in the absence of fetal structural abnormality were recruited in Victoria, Australia. A decision aid for women described 'targeted' analysis as reporting only copy number variants implicated in a highly penetrant and well-described phenotype and 'extended' as additionally reporting variants of uncertain or unknown significance. Participant's choice and demographics were collected by survey before chorionic villus sampling or amniocentesis; psychological data were also collected then and again about 10 days after receiving results. High-resolution single-nucleotide polymorphism array analysis was performed, and a clinical review committee assessed variants for reporting before returning results to participants. Sixty-six participants (59.5%) chose extended analysis and 45 (40.5%) targeted. Choosing extended information was associated with (1) indication for prenatal diagnosis: maternal age alone (adjusted odds ratio (adjOR) 9.6, 95% confidence interval (CI): 1.4-66.0, p= 0.02), or 'other' indication (adjOR 7.1, 95% CI: 1.5-33.1, p= 0.01)); (2) >12 months to conceive (adjOR 4.1, 95% CI: 1.0-17.7, p= 0.05); and (3) Asian background (adjOR 4.67, 95% CI: 1.0-21.0, p= 0.04). No adverse psychological impact occurred in either group. We conclude that offering pregnant women different levels of fetal genetic analysis is warranted, alongside decision support.

  17. [Transitory neonatal diabetes mellitus and pericentric chromosome 9 inversion].

    Science.gov (United States)

    Martos Moreno, G A; Muñoz Calvo, M T; Martín Díaz, M J; Pozo Román, J; Argente Oliver, J

    2006-09-01

    Neonatal diabetes mellitus is an infrequent carbohydrate metabolism disorder with an estimated incidence of approximately one case every 400,000 to 600,000 live newborns. We present the case of a 1-month-old girl with irritability, polyuria, and a 24-h history of eagerness to feed, without fever or other associated symptoms. The patient's karyotype, obtained by amniocentesis, was 46XX with a pericentric chromosome 9 inversion. Her birth weight and length were 2,230 g (-2.65 SD) and 46 cm (-1.8 SD), respectively. Glycemic determinations during the first 72 h of extrauterine life oscillated between 90 and 157 mg/dl. Physical examination revealed general involvement, skin and mucosal pallor, evident signs of dehydration, and impaired awareness. Laboratory tests revealed glycemia: 1552 mg/dL, pH 7.16, pCO2: 23.7 mmHg; bicarbonate: 8.1 mEq/L, base excess: -19.1, and positive ketonemia. After initial stabilization, the patient was treated with intravenous fluids and continuous intravenous regular insulin infusion (initial dose 0.03-0.05 IU/kg/h). After intensive treatment, breast feeding was restored and a short-acting insulin analog was administered subcutaneously after every feed (0.1 to 0.3 IU according to capillary glycemic determinations). Insulin requirements decreased and were discontinued when the infant was 5 months old. Currently, the patient is 2 years and 7 months old and her glycemia and glycosylated hemoglobin levels are normal. Anti-islet (ICA and GAD) and anti-tyrosin phosphatase (IA2) antibodies were absent, as were mutations in the glucokinase gene (GCK).

  18. A pregnancy with discordant fetal and placental chromosome 18 aneuploidies revealed by invasive and noninvasive prenatal diagnosis.

    Science.gov (United States)

    Chen, Chong; Cram, David S; Xie, Fanni; Wang, Ping; Xu, Xueqin; Li, Huanzheng; Song, Zhuo; Chen, Di; Zhang, Jianguang; Tang, Shaohua

    2014-07-01

    This study investigated a pregnancy where the fetus was diagnosed with monosomy 18p by invasive amniocentesis and karyotyping. Additional noninvasive prenatal diagnosis, which detects fetal chromosome abnormalities in the circulating cell-free plasma DNA originating from the placenta revealed a related 18p monosomy/18q trisomy, suggesting confined placental mosaicism. Based on recent observations of chromosomal instability in the early preimplantation embryo, this study speculates on the possible embryonic origin(s) of these related but discordant chromosome 18 aneuploidies in the placental and fetal tissues. The findings highlight the potential for both false-positive and -negative noninvasive prenatal diagnosis results in pregnancies where there is either confined placental mosaicism or placental mosaicism. The study investigated a pregnancy involving a fetus with a chromosome disease syndrome called monosomy 18p where part of the short arm of chromosome 18 was missing in the fetal tissues. Using non-invasive prenatal diagnosis which detects fetal chromosome abnormalities in the circulating cell free plasma DNA originating from the placenta, we also detected monosomy 18p as well a related chromosome 18 abnormality involving duplication of the long arm of chromosome 18. This suggested confined placental mosaicism where the constitution of the chromosomes are different between fetal and placental tissues. We speculated that these related chromosome 18 abnormalities arose during preimplantation embryo development, leading to the formation of different chromosome abnormalities observed in the placental and fetal tissues of this pregnancy. Our findings highlight the potential for both false positive and negative non-invasive prenatal diagnosis test results in pregnancies where there is confined placental mosaicism. Copyright © 2014 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

  19. [Risk assessment for fetal trisomy 21 based on nuchal translucency measurement and biochemical screening at 11-13 weeks.].

    Science.gov (United States)

    Harðardóttir, H

    2001-05-01

    Screening for fetal aneuploidy during the first trimester using fetal nuchal translucency measurement and maternal serum free ss-hCG (ss-human chorionic gonadotropin) and PAPP-A (pregnancy associated plasma protein A) is commonly practised. An approach with a one stop clinic for assessment of risk for fetal anomalies, where pre-test counseling, blood test, ultrasound and post-test counseling is offered in one hour visit is described. Based on maternal age, biochemistry and fetal nuchal translucency measurement an estimated risk for fetal trisomies 13,18 and 21 is calculated. The main benefit of this approach in screening for fetal aneuploidy is the short turnaround time, with immediate results and a low screen positive rate. This approach leads to diagnosis of the majority (95%) of fetal aneuploidy cases. If screening is positive a diagnostic test is available with chorionic villous sampling or amniocentesis. In Iceland, fetal karyotyping is offered to women 35 years and older and performed during the second trimester, but by using this approach prenatal diagnosis can be moved to the first trimester and also offered to women of all ages. A screening approach with a series of steps from 10-15 weeks, including maternal blood test at 10 and again at 15 weeks, as well as an ultrasound and nuchal translucency measurement at 11-13 weeks, with integrated results at 15+ weeks has been proposed. This method offers even lower screen positive rate (1%) while detection rates of fetal aneuploides are high (>90%) but it requires four visits instead of one and the prolonged approach is likely to cause excess anxiety for the parents to be. If all women are to be offered prenatal sreening in the first trimester the structure of prenatal care in Iceland needs some modifications including scheduling the first prenatal visit at 8-10 weeks and teaching healthcare providers counseling regarding prenatal testing.

  20. Late induced abortion.

    Science.gov (United States)

    Savage, W

    1990-09-01

    In the UK in 1988, 13.3% of abortions were performed at 13 weeks' gestation or later. Reasons for this delay, in addition to the diagnosis through amniocentesis of a fetal abnormality, include late recognition of pregnancy, a change of mind about completing the pregnancy, a failure of primary care physicians to entertain the diagnosis of pregnancy, travel or financial problems, and referral difficulties and scheduling delays. Women with little education and very young women are most likely to present for late abortions. From 13-16 weeks, dilatation and evacuation is the safest method of pregnancy termination. The procedure can be made easier through preparation of the cervix with a prostaglandin pessary or Foley catheter. After 16 weeks, an instillation method is recommended; prostaglandin administration can be intro- or extra-amniotic. Complication rates at 13-19 weeks are 14.5/1000 for vaginal methods of abortion and 7.2/1000 for prostaglandin methods. The risk of complications is 3 times higher for women who have 2nd-trimester abortions through the National Health Service. Although it is not realistic to expect that late abortions ever can be eliminated, improved sex education and contraceptive reliability as well as reforms in the National Health Service could reduce the number substantially. To reduce delay, it is suggested that the National Health Service set up satellite day care units and 1-2 central units in each region to deal quickly with midtrimester abortions. Delays would be further reduced by legislation to allow abortion on request in at least the 1st trimester of pregnancy.

  1. Ehlers-Danlos syndrome type IV

    Science.gov (United States)

    Germain, Dominique P

    2007-01-01

    Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS. The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000, EDS type IV representing approximately 5 to 10% of cases. The vascular complications may affect all anatomical areas, with a tendency toward arteries of large and medium diameter. Dissections of the vertebral arteries and the carotids in their extra- and intra-cranial segments (carotid-cavernous fistulae) are typical. There is a high risk of recurrent colonic perforations. Pregnancy increases the likelihood of a uterine or vascular rupture. EDS type IV is inherited as an autosomal dominant trait that is caused by mutations in the COL3A1 gene coding for type III procollagen. Diagnosis is based on clinical signs, non-invasive imaging, and the identification of a mutation of the COL3A1 gene. In childhood, coagulation disorders and Silverman's syndrome are the main differential diagnoses; in adulthood, the differential diagnosis includes other Ehlers-Danlos syndromes, Marfan syndrome and Loeys-Dietz syndrome. Prenatal diagnosis can be considered in families where the mutation is known. Choriocentesis or amniocentesis, however, may entail risk for the pregnant woman. In the absence of specific treatment for EDS type IV, medical intervention should be focused on symptomatic treatment and prophylactic measures. Arterial, digestive or uterine complications require immediate hospitalisation, observation in an intensive care unit. Invasive imaging techniques are contraindicated. Conservative approach is usually recommended when caring for a vascular complication in a patient suffering

  2. Advanced maternal age as an indication for preimplantation genetic diagnosis (PGD)--the need for more judicious application in clinically assisted reproduction.

    Science.gov (United States)

    Heng, Boon Chin

    2006-11-01

    Pre-implantation genetic diagnosis (PGD) is often recommended for routine screening of chromosomal aneuploidy in older women undergoing clinical assisted reproduction, even though its prognostic value on this group of patients is rather ambiguous. What is needed is a clear set of ethical guidelines in the marketing of this technically complex and expensive procedure to patients who are neither suffers nor carriers of serious genetic diseases. Professional counseling would be required to enable an informed decision from the patient. Differences in the prognostic value of PGD for different medical indications must be clearly presented to the patient and they must also be told that PGD is not a completely 'fool-proof' means of preventing birth defects. What may be detected are some genetic syndromes and conditions associated with cytogenetic abnormalities. The patient must be made aware that the results of previous studies have demonstrated that the overwhelming majority of chromosomally abnormal oocytes and embryos either fail to fertilize or implant, and therefore have a relatively low chance of resulting in a live birth with chromosomal defects. Statistical data, particularly the concept of relative risk must clearly be presented to the patient without exaggerating the risk of birth defects. The patient must also be rightfully informed that PGD carries a small risk of damaging the embryo, which could compromise chances of conception. PGD should be judiciously indicated for advanced maternal age in clinically assisted reproduction. Other diagnostic options that may be cheaper, and which also possess a high level of accuracy should be presented first to the patient i.e. amniocentesis, chorionic villus biopsy and ultrasonargraphy.

  3. Fetoplacental Discrepancy with Normal Karyotype in Amniotic Fluid and Two Different Cell Lines in Placenta

    Directory of Open Access Journals (Sweden)

    Veronica Ortega

    2013-01-01

    Full Text Available We present a case of fetoplacental discrepancy in a second-trimester fetus with normal karyotype in amniotic fluid and two different Robertsonian translocations in placenta. A 41-year-old woman of Middle-Eastern origin, gravida 2, para 1, underwent amniocentesis at 16-week gestation because of advanced maternal age. Amniotic fluid karyotype showed a normal 46,XX karyotype with a homozygous inv(9. Parental chromosome analysis showed both parents to be carriers of inv(9 and the parents are not consanguineous. Fetal ultrasound was normal. The mother presented to the clinic 4 weeks later with intrauterine fetal demise. Chromosome analysis from the placenta showed two different cell lines: a balanced (15;21 Roberstonian translocation in 11 cells and an unbalanced (21;21 Robertsonian translocation in 9 cells. The karyotype was interpreted as mos 45,XX,inv(9(p11q13x2,der(15;21(q10;q10[11]/46,XX,inv(9(p11q13x2,+21,der(21;21(q10;q10. Mother was a carrier for the Cystic Fibrosis (delta F508, Factor V Leiden mutations, HbD-Los Angeles and HbQ-India variants. She also had a sibling with term stillbirth. Her husband’s history was unremarkable. Our case appears to be another example of confined placental mosaicism (CPM with normal fetal karyotype. However, we could not confirm the possibility that CPM contributed to the IUFD in our case given the complex medical history of the mother.

  4. Early Phthalates Exposure in Pregnant Women Is Associated with Alteration of Thyroid Hormones.

    Directory of Open Access Journals (Sweden)

    Po-Chin Huang

    Full Text Available Previous studies revealed that phthalate exposure could alter thyroid hormones during the last trimester of pregnancy. However, thyroid hormones are crucial for fetal development during the first trimester. We aimed to clarify the effect of phthalate exposure on thyroid hormones during early pregnancy.We recruited 97 pregnant women who were offered an amniocentesis during the early trimester from an obstetrics clinic in southern Taiwan from 2013 to 2014. After signing an informed consent form, we collected amniotic fluid and urine samples from pregnant women to analyze 11 metabolites, including mono-ethyl phthalate (MEP, mono-(2-ethyl-5-carboxypentyl phthalate (MECPP, mono-(2-ethylhexyl phthalate (MEHP, mono-butyl phthalate (MnBP, of 9 phthalates using liquid chromatography/ tandem mass spectrometry. We collected blood samples from each subject to analyze serum thyroid hormones including thyroxine (T4, free T4, and thyroid-binding globulin (TBG.Three phthalate metabolites were discovered to be >80% in the urine samples of the pregnant women: MEP (88%, MnBP (81% and MECPP (86%. Median MnBP and MECPP levels in pregnant Taiwanese women were 21.5 and 17.6 μg/g-creatinine, respectively, that decreased after the 2011 Taiwan DEHP scandal. Results of principal component analysis suggested two major sources (DEHP and other phthalates of phthalates exposure in pregnant women. After adjusting for age, gestational age, TBG, urinary creatinine, and other phthalate metabolites, we found a significantly negative association between urinary MnBP levels and serum T4 (β = -5.41; p-value = 0.012; n = 97 in pregnant women using Bonferroni correction.We observed a potential change in the thyroid hormones of pregnant women during early pregnancy after DnBP exposure. Additional study is necessitated to clarify these associations.

  5. Phenotypic consequences of a mosaic marker chromosome identified by fluorescence in situ hybridization (FISH) as being derived from chromosome 16

    Energy Technology Data Exchange (ETDEWEB)

    Ray, J.H.; Zhou, X.; Pletcher, B.A. [Cornell Univ. Medical College, Manhasset, NY (United States)] [and others

    1994-09-01

    De novo marker chromosomes are detected in 1 in 2500 amniotic fluid samples and are associated with a 10-15% risk for phenotypic abnormality. FISH can be utilized as a research tool to identify the origins of marker chromosomes. The phenotypic consequences of a marker chromosome derived from the short arm of chromosome 16 are described. A 26-year-old woman underwent amniocentesis at 28 weeks gestation because of a prenatally diagnosed tetralogy of Fallot. Follow-up ultrasounds also showed ventriculomegaly and cleft lip and palate. 32 of 45 cells had the karyotype 47,XY,+mar; the remaining cells were 46,XY. The de novo marker chromosome was C-band positive and non-satellited and failed to stain with distamycin A/DAPI. At birth the ultrasound findings were confirmed and dysmorphic features and cryptorchidism were noted. Although a newborn blood sample contained only normal cells, mosaicism was confirmed in 2 skin biopsies. FISH using whole-chromosome painting and alpha-satellite DNA probes showed that the marker chromosome had originated from chromosome 16. As proximal 16q is distamycin A/DAPI positive, the marker is apparently derived from proximal 16p. At 15 months of age, this child is hypotonic, globally delayed and is gavage-fed. His physical examination is significant for microbrachycephaly, a round face, sparse scalp hair, ocular hypertelorism, exotropia, a flat, wide nasal bridge and tip, mild micrognathia, and tapered fingers with lymphedema of hands and feet. Inguinal hernias have been repaired. His features are consistent with those described for patients trisomic for most or all of the short arm of chromosome 16. Marker chromosomes derived from the short arm of chromosome 16 appear to have phenotypic consequences. As the origin of more marker chromosomes are identified using FISH, their karyotype/phenotype correlations will become more apparent, which will permit more accurate genetic counseling.

  6. β-Thalassemia mutations in Western India: outcome of prenatal diagnosis in a hemoglobinopathies project.

    Science.gov (United States)

    Patel, Ashwin P; Patel, Rupesh B; Patel, Saumyaa A; Vaniawala, Salil N; Patel, Dipika S; Shrivastava, Naina S; Sharma, Narmadeshwar P; Zala, Jayendrasinh V; Parmar, Prakash H; Naik, Madhuben R

    2014-01-01

    Prenatal diagnosis (PND) is one of the most cost effective preventive methods, but it is available only in the large cities of India. Therefore, we initiated a program that offers PND and allows us to determine the prevalence of various mutations. Pregnant females (n = 111,426) were screened for hemoglobinopathies using complete blood count (CBC) and high performance liquid chromatography (HPLC). If the female had a hemoglobinopathy, her husband was then tested. If hemoglobinopathies were seen in both partners, a genetic mutation study was performed on the couple. Fetal samples were obtained by either chorionic villus sampling (CVS) in 70.6% or amniocentesis in 29.4%. The study included 282 couples. IVS-I-5 (G > C) was the most common mutation in all castes except in the Sindhis and Lohanas, where the 619 bp deletion was the most common. Prenatal testing was informative in 97.9% of the couples. A significant number of couples (41.0%) underwent PND during their first pregnancy. Seven patients with β-thalassemia (β-thal) trait had normal Hb A2 levels. The Hb A2 and Hb F values varied significantly (p  T or G > A), were present in 81.0% of the couples tested. β-Thalassemia mutation frequency varied among the different castes, underlining the need for evolving a testing strategy that considers the caste system. Targeting antenatal clinics could also prove to be a most cost effective way of preventing hemoglobinopathies.

  7. Ehlers-Danlos syndrome type IV

    Directory of Open Access Journals (Sweden)

    Germain Dominique P

    2007-07-01

    Full Text Available Abstract Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS, is an inherited connective tissue disorder defined by characteristic facial features (acrogeria in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS. The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000, EDS type IV representing approximately 5 to 10% of cases. The vascular complications may affect all anatomical areas, with a tendency toward arteries of large and medium diameter. Dissections of the vertebral arteries and the carotids in their extra- and intra-cranial segments (carotid-cavernous fistulae are typical. There is a high risk of recurrent colonic perforations. Pregnancy increases the likelihood of a uterine or vascular rupture. EDS type IV is inherited as an autosomal dominant trait that is caused by mutations in the COL3A1 gene coding for type III procollagen. Diagnosis is based on clinical signs, non-invasive imaging, and the identification of a mutation of the COL3A1 gene. In childhood, coagulation disorders and Silverman's syndrome are the main differential diagnoses; in adulthood, the differential diagnosis includes other Ehlers-Danlos syndromes, Marfan syndrome and Loeys-Dietz syndrome. Prenatal diagnosis can be considered in families where the mutation is known. Choriocentesis or amniocentesis, however, may entail risk for the pregnant woman. In the absence of specific treatment for EDS type IV, medical intervention should be focused on symptomatic treatment and prophylactic measures. Arterial, digestive or uterine complications require immediate hospitalisation, observation in an intensive care unit. Invasive imaging techniques are contraindicated. Conservative approach is usually recommended when caring for a vascular

  8. Maternal uniparental disomy for chromosome 14 by secondary nondisjunction of a initial trisomy

    Energy Technology Data Exchange (ETDEWEB)

    Morichon-Delvallez, N.; Segues, B.; Pinson, M.P. [Hopital Necker-Enfants Malades, Paris (France)] [and others

    1994-09-01

    Three cases of maternal uniparental disomy for chromosome 14 (UD 14) have been described in the literature. In all three cases, the UD was found in carriers of Robertsonian translocations (13q14q or 14q and 14q). Here, we report on a new case of UD for chromosome 14 in a fetus in which the UD arose presumably by secondary nondisjunction of a trisomy 14. Prenatal diagnosis was performed on a 40-year-old woman by trans-abdominal chorionic villi sampling. Cytogenetic analysis showed a confined placental mosaicism (CPM) for trisomy 14 (100% of cells trisomic in short term preparations and 20% trisomic in cultured villi). The ultrasound examination was normal and after counselling the parents agreed to continue the pregnancy. Amniocentesis was performed and a normal 46,XX karyotype was found in the 70 cells examined. Molecular analysis of the parental origin of the fetus`s chromosome 14 was performed using microsatellite DNA markers evenly distributed on chromosome 14. Molecular results suggested a maternal heterodisomy. Another ultrasound examination was normal and after genetic counselling based on the small number of cases reported in the literature, the parents decided to keep the pregnancy. At birth, the clinical examination was normal. In conclusion, among the different mechanisms leading to UD, the correction of an initial trisomy by secondary nondisjunction might also be an important one. CPM is observed in about 2% of CVS studies and theoretically 1/3 of corrected trisomies could result in UD for the chromosomal pair that was originally trisomic. In order to provide adequate genetic counselling in these cases, it will be important to undergo molecular studies in the instances of confined placental mosaicism.

  9. Molecular cytogenetic studies in structural abnormalities of chromosome 13

    Energy Technology Data Exchange (ETDEWEB)

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

    1994-09-01

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

  10. Rapid detection of autosomal aneuploidy using microsatellite markers

    Energy Technology Data Exchange (ETDEWEB)

    Ray, P.N.; Teshima, I.E. [Hospital for Sick Children, Ontario (Canada); Winsor, E.J.T. [Toronto Hospital, Ontario (Canada)] [and others

    1994-09-01

    Trisomy occurs in at least 4% of all clinically recognized pregnancies, making it the most common type of chromosome abnormality in humans. The most commonly occurring trisomies are those of chromosomes 13, 18, 21 and aneuploidy of X and Y, accounting for about 0.3% of all newborns and a much higher percentage of conceptuses. In Canada, prenatal chromosome analysis by amniocentesis is offered to those women {ge} 35 years of age at the time of delivery or equivalent risk by maternal serum screen. We are developing a rapid molecular diagnostic test to detect the most common autosomal aneuploidies in prenatal and neonatal samples. The tests makes use of highly polymorphic short tandem repeat markers labeled with fluorescent tags which allow analysis on a GENESCANNER automated fragment analyzer (ABI). Multiple polymorphic markers have been selected on each of chromosomes 13, 18 and 21. At a given locus, trisomic fetuses/neonates will have either three alleles or two alleles with one allele having twice the intensity of the other. Unaffected individuals have two equal intensity alleles. We are conducting a blind study that will compare the detection efficiencies of FISH analysis on uncultured cells and the molecular method on confirmation amniotic fluid samples collected at the time of termination of affected fetuses. Results on cultured amniocytes from one such patient confirmed that trisomy 21 can be detected. FISH was not done on this sample. In addition, detection efficiency of the molecular method in whole blood samples from affected neonates is also being studied. To date, two such samples have been tested, one with trisomy 13 and one with trisomy 18, and both samples were diagnosed correctly. Preliminary results suggest that this method may provide a valuable tool for the rapid diagnosis of aneuploidy.

  11. Single-cell high resolution melting analysis: A novel, generic, pre-implantation genetic diagnosis (PGD) method applied to cystic fibrosis (HRMA CF-PGD).

    Science.gov (United States)

    Destouni, A; Poulou, M; Kakourou, G; Vrettou, C; Tzetis, M; Traeger-Synodinos, J; Kitsiou-Tzeli, S

    2016-03-01

    Institutions offering CF-PGD face the challenge of developing and optimizing single cell genotyping protocols that should cover for the extremely heterogeneous CF mutation spectrum. Here we report the development and successful clinical application of a generic CF-PGD protocol to facilitate direct detection of any CFTR nucleotide variation(s) by HRMA and simultaneous confirmation of diagnosis through haplotype analysis. A multiplex PCR was optimized supporting co-amplification of any CFTR exon-region, along with 6 closely linked STRs. Single cell genotypes were established through HRM analysis following melting of the 2nd round PCR products and were confirmed by STR haplotype analysis of the 1st PCR products. The protocol was validated pre-clinically, by testing 208 single lymphocytes, isolated from whole blood samples from 4 validation family trios. Fifteen PGD cycles were performed and 103 embryos were biopsied. In 15 clinical PGD cycles, genotypes were achieved in 88/93 (94.6%) embryo biopsy samples, of which 57/88 (64.8%) were deemed genetically suitable for embryo transfer. Amplification failed at all loci for 10/103 blastomeres biopsied from poor quality embryos. Six clinical pregnancies were achieved (2 twin, 4 singletons). PGD genotypes were confirmed following conventional amniocentesis or chorionic villus sampling in all achieved pregnancies. The single cell HRMA CF-PGD protocol described herein is a flexible, generic, low cost and robust genotyping method, which facilitates the analysis of any CFTR genotype combination. Single-cell HRMA can be beneficial to other clinical settings, for example the detection of single nucleotide variants in single cells derived from clinical tumor samples. Copyright © 2015 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  12. Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant

    Energy Technology Data Exchange (ETDEWEB)

    Milunsky, J.M. [Boston Univ. School Med, MA (United States)]|[Tufts-New England Med. Ctr, Boston, MA (United States); Wyandt, H.E.; Amos, J.A. [Boston Univ. School Med., MA (United States)] [and others

    1994-09-01

    We describe a liveborn infant with UPD in association with trisomy 15 mosaicism. Third trimester amniocentesis was performed for suspected IUGR. Results revealed 46,XX/47,XX,+15. The infant initially had respiratory distress and fed poorly. Symmetrical growth retardation, craniofacial dysmorphism, excess nuchal folds, a heart murmur, hypermobile joints, minor limb abnormalities, absent spontaneous movement and an abnormal cry were noted. Further study showed complex heart defects, including VSD and PDA, a left choroid plexus cyst, 13 ribs bilaterally, abnormal optic discs, abnormal visual evoked potentials and abnormal auditory brain stem responses. The infant died at 6 weeks of life from cardio-respiratory complications. Blood chromosomes were normal, 46,XX in 100 cells. Parental blood chromosomes were normal. Skin biopsy revealed 46,XX/47,XX,+15 in 40/50 (80%) cells as did autopsy lung tissue. Molecular analysis of the infant`s blood revealed maternal uniparental heterodisomy for chromosome 15 in the 46,XX cell line. Microsatellite analysis demonstrated that the extra chromosome originated from a maternal meiosis I nondisjunction. To our knowledge, this is the first liveborn infant with mosaic trisomy 15 and UPD in the diploid cells. Trisomy 15, heretofore, has been regarded as nonviable, even in mosaic form. While maternal UPD is associated with the Prader-Willi syndrome phenotype, mosaicism for trisomy 15 has been reported only when confined to the placenta. UPD in this case generally complicated prediction of the phenotype and raises the question whether all cases with UPD 15 should have more than one tissue studied to determine undetected trisomy 15.

  13. Maternal Plasma DNA and RNA Sequencing for Prenatal Testing.

    Science.gov (United States)

    Tamminga, Saskia; van Maarle, Merel; Henneman, Lidewij; Oudejans, Cees B M; Cornel, Martina C; Sistermans, Erik A

    2016-01-01

    Cell-free DNA (cfDNA) testing has recently become indispensable in diagnostic testing and screening. In the prenatal setting, this type of testing is often called noninvasive prenatal testing (NIPT). With a number of techniques, using either next-generation sequencing or single nucleotide polymorphism-based approaches, fetal cfDNA in maternal plasma can be analyzed to screen for rhesus D genotype, common chromosomal aneuploidies, and increasingly for testing other conditions, including monogenic disorders. With regard to screening for common aneuploidies, challenges arise when implementing NIPT in current prenatal settings. Depending on the method used (targeted or nontargeted), chromosomal anomalies other than trisomy 21, 18, or 13 can be detected, either of fetal or maternal origin, also referred to as unsolicited or incidental findings. For various biological reasons, there is a small chance of having either a false-positive or false-negative NIPT result, or no result, also referred to as a "no-call." Both pre- and posttest counseling for NIPT should include discussing potential discrepancies. Since NIPT remains a screening test, a positive NIPT result should be confirmed by invasive diagnostic testing (either by chorionic villus biopsy or by amniocentesis). As the scope of NIPT is widening, professional guidelines need to discuss the ethics of what to offer and how to offer. In this review, we discuss the current biochemical, clinical, and ethical challenges of cfDNA testing in the prenatal setting and its future perspectives including novel applications that target RNA instead of DNA. © 2016 Elsevier Inc. All rights reserved.

  14. [Demographic characteristics of Down's syndrome in Navarra. Trends of pre and postnatal diagnosis for the period 1991-2009].

    Science.gov (United States)

    Ramos Arroyo, M A; Lizarraga Rojas, M; Hernández Charro, B; Martínez Jaurrieta, M D; Zabaleta Jurio, J; Alonso Sánchez, A

    2013-09-06

    This study describes the development of pre and postnatal diagnosis of sindrome de Down (SD) in the Autonomous Community of Navarre from 1991 to 2009 and assesses its preventive impact in the population, as well as to associated socio-demographic changes. In the absence of a prenatal diagnosis for DS, the change in maternal age from 1991 to 2009 would have caused a 50% increase in births with this disorder. However, the antenatal rate detection of DS increased from 15.8% in 1991-4 to 64.3% in 2006-9, giving rise to a decreasing incidence trend, not statistically significant, during the study period and to a higher mean age of mothers of live births with DS (32.75± 5,02 and 34.8±4,82 years during the first and second periods of the study, respectively). The proportion of young mothers (<35 years) of live births with DS was 66% in 1991-4 and 45% in 2006-9. Close to one fifth of the total population of pregnant women, however, did not want to go through a maternal screening test or amniocentesis. Seventeen per cent of all live births with DS had a positive screening test, but mothers decided to continue pregnancy. These results suggest that, despite the application of new and more sensitive prenatal screening tests, the incidence of DS may still be relatively high in our population, an important factor to be considered for future antenatal preventive programs and adequate postnatal care.

  15. Development of a novel method for amniotic fluid stem cell storage.

    Science.gov (United States)

    Zavatti, Manuela; Beretti, Francesca; Casciaro, Francesca; Comitini, Giuseppina; Franchi, Fabrizia; Barbieri, Veronica; Bertoni, Laura; De Pol, Anto; La Sala, Giovanni B; Maraldi, Tullia

    2017-08-01

    Current procedures for collection of human amniotic fluid stem cells (hAFSCs) indicate that cells cultured in a flask for 2 weeks can then be used for research. However, hAFSCs can be retrieved directly from a small amount of amniotic fluid that can be obtained at the time of diagnostic amniocentesis. The aim of this study was to determine whether direct freezing of amniotic fluid cells is able to maintain or improve the potential of a sub-population of stem cells. We compared the potential of the hAFSCs regarding timing of freezing, cells obtained directly from amniotic fluid aspiration (D samples) and cells cultured in a flask before freezing (C samples). Colony-forming-unit ability, proliferation, morphology, stemness-related marker expression, senescence, apoptosis and differentiation potential of C and D samples were compared. hAFSCs isolated from D samples expressed mesenchymal stem cells markers until later passages, had a good proliferation rate and exhibited differentiation capacity similar to hAFSCs of C samples. Interestingly, direct freezing induced a higher concentration of cells positive for pluripotency stem cell markers, without teratoma formation in vivo. This study suggests that minimal processing may be adequate for the banking of amniotic fluid cells, avoiding in vitro passages before the storage and exposure to high oxygen concentration, which affect stem cell properties. This technique might be a cost-effective and reasonable approach to the process of Good Manufacturing Process accreditation for stem-cell banks. Copyright © 2017 International Society for Cellular Therapy. Published by Elsevier Inc. All rights reserved.

  16. Brachydactyly

    Directory of Open Access Journals (Sweden)

    Aglan Mona S

    2008-06-01

    Full Text Available Abstract Brachydactyly ("short digits" is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. To date, many different forms of brachydactyly have been identified. Some forms also result in short stature. In isolated brachydactyly, subtle changes elsewhere may be present. Brachydactyly may also be accompanied by other hand malformations, such as syndactyly, polydactyly, reduction defects, or symphalangism. For the majority of isolated brachydactylies and some syndromic forms of brachydactyly, the causative gene defect has been identified. In isolated brachydactyly, the inheritance is mostly autosomal dominant with variable expressivity and penetrtance. Diagnosis is clinical, anthropometric and radiological. Prenatal diagnosis is usually not indicated for isolated forms of brachydactyly, but may be appropriate in syndromic forms. Molecular studies of chorionic villus samples at 11 weeks of gestation and by amniocentesis after the 14th week of gestation can provide antenatal diagnosis if the causative mutation in the family is known. The nature of genetic counseling depends both on the pattern of inheritance of the type of brachydactyly present in the family and on the presence or absence of accompanying symptoms. There is no specific management or treatment that is applicable to all forms of brachydactyly. Plastic surgery is only indicated if the brachydactyly affects hand function or for cosmetic reasons, but is typically not needed. Physical therapy and ergotherapy may ameliorate hand function. Prognosis for the brachydactylies is strongly dependent on the nature of the brachydactyly, and may vary from excellent to severely influencing hand function. If

  17. Perinatal outcomes after natural conception versus in vitro fertilization (IVF) in gestational surrogates: a model to evaluate IVF treatment versus maternal effects.

    Science.gov (United States)

    Woo, Irene; Hindoyan, Rita; Landay, Melanie; Ho, Jacqueline; Ingles, Sue Ann; McGinnis, Lynda K; Paulson, Richard J; Chung, Karine

    2017-12-01

    To study the perinatal outcomes between singleton live births achieved with the use of commissioned versus spontaneously conceived embryos carried by the same gestational surrogate. Retrospective cohort study. Academic in vitro fertilization center. Gestational surrogate. None. Pregnancy outcome, gestational age at birth, birth weight, perinatal complications. We identified 124 gestational surrogates who achieved a total of 494 pregnancies. Pregnancy outcomes for surrogate and spontaneous pregnancies were significantly different (P<.001), with surrogate pregnancies more likely to result in twin pregnancies: 33% vs. 1%. Miscarriage and ectopic rates were similar. Of these pregnancies, there were 352 singleton live births: 103 achieved from commissioned embryos and 249 conceived spontaneously. Surrogate births had lower mean gestational age at delivery (38.8 ± 2.1 vs. 39.7 ± 1.4), higher rates of preterm birth (10.7% vs. 3.1%), and higher rates of low birth weight (7.8% vs. 2.4%). Neonates from surrogacy had birth weights that were, on average, 105 g lower. Surrogate births had significantly higher obstetrical complications, including gestational diabetes, hypertension, use of amniocentesis, placenta previa, antibiotic requirement during labor, and cesarean section. Neonates born from commissioned embryos and carried by gestational surrogates have increased adverse perinatal outcomes, including preterm birth, low birth weight, hypertension, maternal gestational diabetes, and placenta previa, compared with singletons conceived spontaneously and carried by the same woman. Our data suggest that assisted reproductive procedures may potentially affect embryo quality and that its negative impact can not be overcome even with a proven healthy uterine environment. Copyright © 2017 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  18. [Toxoplasmic infections in pregnancy: about 94 cases diagnosed at the Pasteur Institute of Tunis].

    Science.gov (United States)

    Siala, E; Ben Abdallah, R; Laouiti, F; Maatoug, R; Souissi, O; Aoun, K; Bouratbine, A

    2014-05-01

    The objectives of this study were to estimate the risk of maternal-fetal transmission of toxoplasmosis and its consequences on the fetus and to emphasize the importance of follow-up of newborns in Tunisia. It was a retrospective study of 94 cases of pergravidic toxoplasmic seroconversion who were diagnosed and followed in the Laboratory of Parasitology of Pasteur Institute of Tunis between 2005 and 2010. In our series, amniocentesis was performed for 60 parturients. Among the amniotic fluid tested, research of toxoplasmosis DNA by PCR was positive in 12 cases (12/60, 20 %). Twenty-six cases of congenital toxoplasmosis were diagnosed with 14 postnatal cases. The rate of maternal-fetal transmission of Toxoplasma gondii was 27.6 % (26/94). This risk increases with gestational age, from 19 % at seroconversion of the 1st quarter to 29.4 % in the 2nd quarter and 44.4 % in the 3rd trimester. Monitoring of newborns with congenital toxoplasmosis showed that only 3 children were symptomatic. There were 2 cases of toxoplasmic chorioretinitis and a case of brain damage. Under serological monitoring of newborns, 21 cases were lost to follow-up and monitoring was stopped for 29 after decrease of anti-toxoplasmic IgG. The prenatal diagnosis allowed to decrease the severe forms of congenital toxoplasmosis in Tunisia. Nevertheless, it is always necessary to raise the problem of the significant number of newborn children whose follow-up is incomplete. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  19. Maternal Serologic Screening to Prevent Congenital Toxoplasmosis: A Decision-Analytic Economic Model

    Science.gov (United States)

    Stillwaggon, Eileen; Carrier, Christopher S.; Sautter, Mari; McLeod, Rima

    2011-01-01

    Objective To determine a cost-minimizing option for congenital toxoplasmosis in the United States. Methodology/Principal Findings A decision-analytic and cost-minimization model was constructed to compare monthly maternal serological screening, prenatal treatment, and post-natal follow-up and treatment according to the current French (Paris) protocol, versus no systematic screening or perinatal treatment. Costs are based on published estimates of lifetime societal costs of developmental disabilities and current diagnostic and treatment costs. Probabilities are based on published results and clinical practice in the United States and France. One- and two-way sensitivity analyses are used to evaluate robustness of results. Universal monthly maternal screening for congenital toxoplasmosis with follow-up and treatment, following the French protocol, is found to be cost-saving, with savings of $620 per child screened. Results are robust to changes in test costs, value of statistical life, seroprevalence in women of childbearing age, fetal loss due to amniocentesis, and to bivariate analysis of test costs and incidence of primary T. gondii infection in pregnancy. Given the parameters in this model and a maternal screening test cost of $12, screening is cost-saving for rates of congenital infection above 1 per 10,000 live births. If universal testing generates economies of scale in diagnostic tools—lowering test costs to about $2 per test—universal screening is cost-saving at rates of congenital infection well below the lowest reported rates in the United States of 1 per 10,000 live births. Conclusion/Significance Universal screening according to the French protocol is cost saving for the US population within broad parameters for costs and probabilities. PMID:21980546

  20. Significant performance variation among PCR systems in diagnosing congenital toxoplasmosis in São Paulo, Brazil: analysis of 467 amniotic fluid samples

    Directory of Open Access Journals (Sweden)

    Thelma Suely Okay

    2009-03-01

    Full Text Available INTRODUCTION: Performance variation among PCR systems in detecting Toxoplasma gondii has been extensively reported and associated with target genes, primer composition, amplification parameters, treatment during pregnancy, host genetic susceptibility and genotypes of different parasites according to geographical characteristics. PATIENTS: A total of 467 amniotic fluid samples from T. gondii IgM- and IgG-positive Brazilian pregnant women being treated for 1 to 6 weeks at the time of amniocentesis (gestational ages of 14 to 25 weeks. METHODS: One nested-B1-PCR and three one-round amplification systems targeted to rDNA, AF146527 and the B1 gene were employed. RESULTS: Of the 467 samples, 189 (40.47% were positive for one-round amplifications: 120 (63.49% for the B1 gene, 24 (12.69% for AF146527, 45 (23.80% for both AF146527 and the B1 gene, and none for rDNA. Fifty previously negative one-round PCR samples were chosen by computer-assisted randomization analysis and re-tested (nested-B1-PCR, during which nine additional cases were detected (9/50 or 18%. DISCUSSION: The B1 gene PCR was far more sensitive than the AF146527 PCR, and the rDNA PCR was the least effective even though the rDNA had the most repetitive sequence. Considering that the four amplification systems were equally affected by treatment, that the amplification conditions were optimized for the target genes and that most of the primers have already been reported, it is plausible that the striking differences found among PCR performances could be associated with genetic diversity in patients and/or with different Toxoplasma gondii genotypes occurring in Brazil. CONCLUSION: The use of PCR for the diagnosis of fetal Toxoplasma infections in Brazil should be targeted to the B1 gene when only one gene can be amplified, preferably by nested amplification with primers B22/B23.

  1. Cervical length and gestational age at admission as predictors of intra-amniotic inflammation in preterm labor with intact membranes.

    Science.gov (United States)

    Palacio, M; Cobo, T; Bosch, J; Filella, X; Navarro-Sastre, A; Ribes, A; Gratacós, E

    2009-10-01

    To evaluate cervical length and gestational age as predictors of intra-amniotic inflammation in patients admitted because of preterm labor and intact membranes. Ninety-three pregnant women with preterm labor and intact membranes were included in our study. Cervical length was measured on admission by transvaginal sonography and transabdominal amniocentesis was performed within the first 48 h following admission. Positive amniotic fluid cultures defined intra-amniotic infection. Levels of intra-amniotic interleukin-6 (IL-6) were measured, and a receiver-operating characteristics (ROC) curve was constructed to determine the best cut-off point of IL-6 for predicting intra-amniotic infection. This value was then used as a basis for determining a cut-off of IL-6 for defining intra-amniotic inflammation. Considering inflammatory status, perinatal outcomes were evaluated and compared. Logistic regression was used to investigate associations of different explanatory variables with inflammatory status. A non-invasive approach for detection of intra-amniotic inflammation in women admitted because of preterm labor with intact membranes was evaluated. Intra-amniotic infection and inflammation rates were 14% and 28%, respectively. ROC curve analysis showed that the best cut-off value for IL-6 was 13.4 ng/mL for predicting intra-amniotic infection, which was comparable to the cut-off of 11.3 ng/mL reported previously by other authors (which we used to define inflammation). Regardless of the intra-amniotic microbial status, perinatal outcomes in women who developed intra-amniotic inflammation were worse than in those who did not. Cervical length or= 28 and membranes.

  2. Congenital cytomegalovirus infection in pregnancy: a review of prevalence, clinical features, diagnosis and prevention.

    Science.gov (United States)

    Naing, Zin W; Scott, Gillian M; Shand, Antonia; Hamilton, Stuart T; van Zuylen, Wendy J; Basha, James; Hall, Beverly; Craig, Maria E; Rawlinson, William D

    2016-02-01

    Human cytomegalovirus (CMV) is under-recognised, despite being the leading infectious cause of congenital malformation, affecting ~0.3% of Australian live births. Approximately 11% of infants born with congenital CMV infection are symptomatic, resulting in clinical manifestations, including jaundice, hepatosplenomegaly, petechiae, microcephaly, intrauterine growth restriction and death. Congenital CMV infection may cause severe long-term sequelae, including progressive sensorineural hearing loss and developmental delay in 40-58% of symptomatic neonates, and ~14% of initially asymptomatic infected neonates. Up to 50% of maternal CMV infections have nonspecific clinical manifestations, and most remain undetected unless specific serological testing is undertaken. The combination of serology tests for CMV-specific IgM, IgG and IgG avidity provide improved distinction between primary and secondary maternal infections. In pregnancies with confirmed primary maternal CMV infection, amniocentesis with CMV-PCR performed on amniotic fluid, undertaken after 21-22 weeks gestation, may determine whether maternofetal virus transmission has occurred. Ultrasound and, to a lesser extent, magnetic resonance imaging are valuable tools to assess fetal structural and growth abnormalities, although the absence of fetal abnormalities does not exclude fetal damage. Diagnosis of congenital CMV infection at birth or in the first 3 weeks of an infant's life is crucial, as this should prompt interventions for prevention of delayed-onset hearing loss and neurodevelopmental delay in affected infants. Prevention strategies should also target mothers because increased awareness and hygiene measures may reduce maternal infection. Recognition of the importance of CMV in pregnancy and in neonates is increasingly needed, particularly as therapeutic and preventive interventions expand for this serious problem. © 2015 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  3. [Prevalence of congenital abnormalities identified in fetuses with 13, 18 and 21 chromosomal trisomy].

    Science.gov (United States)

    Emer, Caroline Soares Cristofari; Duque, Julio Alejandro Peña; Müller, Ana Lúcia Letti; Gus, Rejane; Sanseverino, Maria Teresa Vieira; da Silva, André Anjos; Magalhães, José Antonio de Azevedo

    2015-07-01

    To describe the prevalence of malformations found in fetuses with trisomy of chromosomes 13, 18 and 21 by identifying the most frequent within each condition. A retrospective cross-sectional study with the analysis of trisomy cases of chromosomes 13, 18 and 21 diagnosed through fetal karyotype obtained by amniocentesis/cordocentesis, between October 1994 and May 2014, at a Teaching Hospital in Brazil Southern Region. Malformations identified through morphological ultrasonography were described and, subsequently, confirmed in newborn examinations and/or fetal autopsy. The results were analyzed using Fisher's test and analysis of variance (ANOVA), with a 5% level of significance (p=0.05). Sixty-nine cases of trisomy were diagnosed among 840 exams; nine were excluded due to outcome outside Hospital de Clínicas de Porto Alegre or incomplete records, remaining 60 cases (nine cases of chromosome 13 trisomy, 26 of chromosome 18, and 25 of chromosome 21). In all three groups, heart disease occurred in most cases; the ventricular septal defect was more prevalent and occurred in 66.7% of the trisomy 13 group. Gastrointestinal abnormalities were more prevalent in the trisomy 18 group, especially omphalocele (38.5%; pmalformations significantly differed among the trisomy groups. Hand defects occurred in 50% of trisomy 18 cases, and in 44.4% of all trisomy 13 cases (pcongenital clubfoot was more common in the trisomy 18 group, being detected in 46.2% of fetuses (pmalformations identified at ultrasound are suggestive of trisomy and represent an important tool for etiologic diagnosis and prenatal and pre-conception genetic counseling.

  4. Quantitative analysis of DNA levels in maternal plasma in normal and Down syndrome pregnancies

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    Stejskal David

    2002-05-01

    Full Text Available Abstract Background We investigated fetal and total DNA levels in maternal plasma in patients bearing fetuses affected with Down syndrome in comparison to controls carrying fetuses with normal karyotype. Methods DNA levels in maternal plasma were measured using real-time quantitative PCR using SRY and β-globin genes as markers. Twenty-one pregnant women with a singleton fetus at a gestational age ranging from 15 to 19 weeks recruited before amniocentesis (carried out for reasons including material serum screening and advanced material age, and 16 pregnant women bearing fetuses affected with Down syndrome between 17 to 22 weeks of gestation were involved in the study. Results The specificity of the system reaches 100% (no Y signal was detected in 14 women pregnant with female fetuses and the sensitivity 91.7% (SRY amplification in 22 of 24 examined samples. The median fetal DNA levels in women carrying Down syndrome (n=11 and the controls (n=13 were 23.3 (range 0–58.5 genome-equivalents/ml and 24.5 (range 0–47.5 genome-equivalents/ml of maternal plasma, respectively (P = 0.62. The total median DNA levels in pregnancies with Down syndrome and the controls were 10165 (range 615–65000 genome-equivalents/ml and 7330 (range 1300–36750 genome-equivalents/ml, respectively (P = 0.32. The fetal DNA proportion in maternal plasma was 0%-6 % (mean 0.8% in women carrying Down syndrome and 0%-2.6 % (mean 0.7 % in the controls, respectively (P=0.86. Conclusions Our study revealed no difference in fetal DNA levels and fetal DNA: maternal DNA ratio between the patients carrying Down syndrome fetuses and the controls.

  5. Maternal plasma and amniotic fluid sphingolipids profiling in fetal Down syndrome.

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    Karol Charkiewicz

    Full Text Available Sphingolipids can be potentially involved in the formation of the central and peripheral nervous systems, which are particularly connected with the pathogenesis of Down syndrome. The aim of the study was to determine the concentration of selected sphingolipids in the plasma and amniotic fluid of pregnant patients with fetal Down syndrome.Out of 190 amniocentesis we had 10 patients with confirmed Down syndrome. For the purpose of our control we chose 14 women without confirmed chromosomal aberration. To assess the concentration of 11 sphingolipids in the blood plasma and amniotic fluid we used an ultra-high performance liquid chromatography coupled with triple quadrupole mass spectrometry (UHPLC/MS/MS.We showed a significant increase in the concentration of 2 ceramides, C22-Cer and C24:1-Cer, in the plasma of women with fetal Down syndrome. Furthermore we showed a decrease in the concentration of 7 ceramides--C16-Cer, C18-Cer, C18:1-Cer, C20-Cer, C22-Cer, C24:1-Cer, and C24-Cer--in the amniotic fluid of women with fetal Down syndrome. We created ROC curves for all significant sphingolipids in maternal plasma, which set the threshold values and allowed for predicting the likelihood of Down syndrome in the fetus with specific sensitivity and specificity. We demonstrated a significantly higher risk of Down syndrome when the plasma concentration of C22-Cer > 12.66 ng/100 ul (sens. 0.9, sp. 0.79, P value = 0.0007 and C24:1-Cer > 33,19 ng/100 ul (sens. 0.6, sp. 0.86, P value = 0.0194.On the basis of our findings, it seems that the sphingolipids may play a role in the pathogenesis of Down syndrome. Defining their potential as biochemical markers of Down syndrome requires further investigation on a larger group of patients.

  6. Factors associated with delivery at or after 28 weeks gestation in women with bulging fetal membranes before 26 weeks gestation.

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    Ito, Akiko; Maseki, Yoshiaki; Ikeda, Sayako; Tezuka, Atsuko; Kuribayashi, Momoko; Furuhashi, Madoka

    2017-09-01

    To elucidate the factors that contribute to prolonged pregnancy and promote neonate survival in women with bulging fetal membranes. A database was reviewed to identify women with singleton pregnancies who underwent amniocentesis on admission to determine amniotic fluid neutrophil elastase levels before 26 + 0 weeks gestation between July 2001 and January 2015. Following delivery, the placentas of these patients were examined for histologic chorioamnionitis. Ninety-seven women delivered before 28 weeks gestation, and 117 women delivered at or after 28 weeks gestation. Rescue cerclage performed via the McDonald procedure (adjusted odds ratio [aOR]: 3.78; 95% confidence interval [CI]: 1.35-11.80) was associated with a higher likelihood of reaching at least 28 weeks gestation before delivery, whereas protruding membranes (aOR: 0.38; 95% CI: 0.18-0.78), elevated amniotic neutrophil elastase levels (≥0.15 μg/ml) (aOR, 0.41; 95% CI: 0.20-0.82) and elevated peripheral C-reactive protein levels (≥0.4 mg/dl) (aOR: 0.34; 95% CI: 0.180.65) were associated with a significantly reduced likelihood of reaching this gestational age before delivery. Among women who underwent rescue cerclage, amniorrhexis was associated with a negative prognosis (aOR: 0.18; 95% CI: 0.05-0.51). Intra-amniotic inflammation, protrusion of fetal membranes and amniorrhexis are factors that may prevent pregnancy prolongation. Rescue cerclage improves pregnancy outcomes.

  7. Decision-making about prenatal genetic testing among pregnant Korean-American women.

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    Jun, Myunghee; Thongpriwan, Vipavee; Choi, Jeeyae; Sook Choi, Kyung; Anderson, Gwen

    2018-01-01

    to understand the prenatal genetic testing decision-making processes among pregnant Korean-American women. a qualitative, descriptive research design. referrals and snowball sampling techniques were used to recruit 10 Korean-American women who had been recommended for amniocentesis during pregnancy in the United States (U.S.). All participants were born in Korea and had immigrated to the U.S. The number of years living in the U.S. ranged from 4 to 11 (M=5.7). various regional areas of the U.S. the researchers conducted face-to-face or phone interviews using semi-structured interview guides. The interviews were conducted in the Korean language and lasted approximately 50-100minutes. The interview guides focused on the decision-making process and experiences with prenatal genetic testing, as well as reflections on the decisions. Four core themes emerged related to the participants' decision-making processes, according to their descriptions. These themes are (1) facing the challenges of decision-making, (2) seeking support, (3) determining one's preferred role in the decision-making process, and (4) feeling uncomfortable with the degree of patient autonomy in U.S. health care. researchers concluded that many distinctive factors influence the decision-making processes used by pregnant Korean-American women. The results have the potential to improve shared decision-making practices regarding prenatal genetic testing. clinicians need to understand the sociocultural underpinnings of pregnant Korean-American immigrants regarding prenatal genetic screening and testing as an initial step to engage these patients in shared decision-making. Published by Elsevier Ltd.

  8. Informed Decision-Making in the Context of Prenatal Chromosomal Microarray.

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    Baker, Jessica; Shuman, Cheryl; Chitayat, David; Wasim, Syed; Okun, Nan; Keunen, Johannes; Hofstedter, Renee; Silver, Rachel

    2018-03-07

    The introduction of chromosomal microarray (CMA) into the prenatal setting has involved considerable deliberation due to the wide range of possible outcomes (e.g., copy number variants of uncertain clinical significance). Such issues are typically discussed in pre-test counseling for pregnant women to support informed decision-making regarding prenatal testing options. This research study aimed to assess the level of informed decision-making with respect to prenatal CMA and the factor(s) influencing decision-making to accept CMA for the selected prenatal testing procedure (i.e., chorionic villus sampling or amniocentesis). We employed a questionnaire that was adapted from a three-dimensional measure previously used to assess informed decision-making with respect to prenatal screening for Down syndrome and neural tube defects. This measure classifies an informed decision as one that is knowledgeable, value-consistent, and deliberated. Our questionnaire also included an optional open-ended question, soliciting factors that may have influenced the participants' decision to accept prenatal CMA; these responses were analyzed qualitatively. Data analysis on 106 participants indicated that 49% made an informed decision (i.e., meeting all three criteria of knowledgeable, deliberated, and value-consistent). Analysis of 59 responses to the open-ended question showed that "the more information the better" emerged as the dominant factor influencing both informed and uninformed participants' decisions to accept prenatal CMA. Despite learning about the key issues in pre-test genetic counseling, our study classified a significant portion of women as making uninformed decisions due to insufficient knowledge, lack of deliberation, value-inconsistency, or a combination of these three measures. Future efforts should focus on developing educational approaches and counseling strategies to effectively increase the rate of informed decision-making among women offered prenatal CMA.

  9. [Premature birth in patient with cervix incompetence and history of myasthenia gravis].

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    Fuentealba, Maximiliano; Troncoso, Miguel; Vallejos, Joaquin; Ponce, Sebastian; Villablanca, Nelson; Melita, Pablo

    2013-09-01

    Cervical incompetence it's a dilatation of the cervix during the third trimester of pregnancy that ends with the interruption of it. The incidence in Chile is about 0.1-2% of the total pregnancies and it's one of the causes of preterm birth. A 34 years old pregnant patient. Timectomized at age 18 to treat her miastenia gravis, previously trated with medication, had 4 previous preterm labours all of them under 25 weeks and vaginal births. All fetuses died postpartum. A cerclage was made during the third, fourth and fifth pregnancies. She didn't present hypertension during the gestation and no cervical diameter under 15mm. Since the fourth gestation the following tests are taken: Antifosfolipidic antibodies, APTT,PT. All the results are either normal or negative. Microbial cultures were negative. No amniocentesis was made. A McDonald cervical cerclage was made during pregnancies number 3, 4 and 5 on the 16th week to delay the labor. Also oral micronized progesterone, on a 400mg/24 hours dosis, was administered to avoid preterm birth. On the 24th week the pharmacological treatment started including Intramuscular Betamethasone, 12 mg/24 hours (2 doses), to induce lung maturity on the fetus. It is thought that the administration of progesterone could have improved the situation of the patient, because it acts as a labour repressants. The use of cerclage could have helped, but the factors that may influence the effectiveness of this method are unknown. Perhaps there is some immunologic factor associated with the miastenia gravis that alters the normal course of pregnancy.

  10. Prenatal diagnosis and molecular cytogenetic characterization of a de novo 4.858-Mb microdeletion in 15q14 associated with ACTC1 and MEIS2 haploinsufficiency and tetralogy of Fallot.

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    Chen, Chih-Ping; Chen, Chen-Yu; Chern, Schu-Rern; Wu, Peih-Shan; Chen, Yen-Ni; Chen, Shin-Wen; Chen, Li-Feng; Yang, Chien-Wen; Wang, Wayseen

    2016-04-01

    To present prenatal diagnosis and molecular cytogenetic characterization of a de novo 15q14 microdeletion associated with tetralogy of Fallot (TOF). This was the first pregnancy of a 31-year-old primigravid woman. The pregnancy was uneventful until 23 weeks of gestation when TOF was first noted. The woman underwent amniocentesis at 23 weeks of gestation. Conventional cytogenetic analysis was performed using cultured amniocytes and parental bloods. Array comparative genomic hybridization (aCGH) was performed on uncultured amniocytes and parental bloods. Metaphase fluorescence in situ hybridization (FISH) was performed on cultured amniocytes. Quantitative fluorescent-polymerase chain reaction (QF-PCR) analysis was performed on placental tissue and parental bloods. Conventional cytogenetics on cultured amniocytes revealed a karyotype of 46,XY, aCGH on uncultured amniocytes revealed a de novo 4.858-Mb microdeletion in 15q14 encompassing ACTC1 and MEIS2, and metaphase FISH analysis on cultured amniocytes confirmed a 15q14 microdeletion. Postnatal phenotype included facial dysmorphism. QF-PCR assays detected a paternal origin of the 15q14 microdeletion in the fetus. Fetuses with 15q14 microdeletion may present TOF on the second-trimester ultrasound. aCGH and metaphase FISH are useful for rapid prenatal diagnosis of 15q14 microdeletion associated with TOF. A prenatal diagnosis of TOF should include a differential diagnosis of 15q14 microdeletion in addition to 22q11.2 deletion syndrome and other microdeletion syndromes. Copyright © 2016. Published by Elsevier B.V.

  11. Timing of Histologic Progression from Chorio-Deciduitis to Chorio-Deciduo-Amnionitis in the Setting of Preterm Labor and Preterm Premature Rupture of Membranes with Sterile Amniotic Fluid.

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    Park, Chan-Wook; Park, Joong Shin; Norwitz, Errol R; Moon, Kyung Chul; Jun, Jong Kwan; Yoon, Bo Hyun

    2015-01-01

    Histologic chorio-deciduitis and chorio-deciduo-amnionitis (amnionitis) in extra-placental membranes are known to represent the early and advanced stages of ascending intra-uterine infection. However, there are no data in humans about the time required for chorio-deciduitis to develop and for chorio-deciduitis without amnionitis to progress to chorio-deciduitis with amnionitis, and the effect of prolongation of pregnancy on the development of chorio-deciduitis and amnionitis in patients with preterm labor and intact membranes (PTL) and preterm premature rupture of membranes (preterm-PROM). We examined these issues in this study. The study population consisted of 289 women who delivered preterm (133 cases with PTL, and 156 cases with preterm-PROM) and who had sterile amniotic fluid (AF) defined as a negative AF culture and the absence of inflammation as evidenced by a matrix metalloproteinase-8 (MMP-8) level membranes (i.e., inflammation-free extra-placental membranes, choroi-deciduitis only, and chorio-deciduitis with amnionitis) in patients with PTL and preterm-PROM. Amniocentesis-to-delivery interval was longer in cases of chorio-deciduitis with amnionitis than in cases of chorio-deciduitis only in both PTL (median [interquartile-range (IQR)]; 645.4 [319.5] vs. 113.9 [526.9] hours; P = 0.005) and preterm-PROM (131.3 [135.4] vs. 95.2 [140.5] hours; Pmembranes. Moreover, prolongation of pregnancy is an independent predictor of the development of both chorio-deciduitis and amnionitis in cases of PTL with sterile AF.

  12. When daughters are unwanted. Sex determination tests in India.

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    Kishwar, M

    1995-01-01

    Amniocentesis and ultrasound have been used for detecting fetal abnormalities, but in India they have been used for sex determination, leading to the abortion of hundreds of thousands of female fetuses. As a result, by 1991 the sex ratio had declined to 929 females per 1000 males from 972 females per 1000 males in 1901. This amounts to a deficit of almost 30 million females in the whole population. The regional prevalence of sex preferences has spread horizontally and vertically in the south and the northeast, where the ratios used to be more favorable. A ban on such prenatal diagnosis was passed in several states, but it proved to be ineffective and unenforceable. The result was only that the fees charged soared. Finally, in August 1994 the Indian Parliament enacted the Prenatal Diagnostics Techniques Act that prohibited genetic counseling centers to perform such procedures unless strict criteria were observed (age over 35 years, two or more previous abortions, exposure to drugs, infections, and mental or physical retardation). However, the emergence of a police-doctor nexus is dangerous for the well-being of any society and could lead to criminalization of the medical profession. Some doctors also rationalize this practice as a means of controlling population, because the custom continues to have children until the desired number of sons are born. In low sex ratio regions seclusion, disinheritance of women from property, low female literacy, poor health, greater incidence of domestic violence, and low employment rates are typical. The aversion to female infants is a culturally conditioned choice which materializes in the pervasive dread of daughters. Women themselves perpetuate the dread because of their own misery, low status, abuse, and the burden of the dowry. The devaluation of women is rooted in history, particularly in the northwest where constant wars favored a martial society for males (with strict purdah for females), and in addition British colonialism

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

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    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.

  14. Longitudinal assessment of PCBs and chlorinated pesticides in pregnant women from Western Canada

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    Hauser Russ

    2005-06-01

    Full Text Available Abstract Background Maternal exposures to organochlorines prior to pregnancy are considered a risk to neonatal welfare, specifically in relation to neurocognitive functions. There is growing interest in the evaluation of maternal blood testing as a marker for fetal exposure as well as the variable geographic distribution of these priority chemicals. Methods Three hundred and twenty-three women in the second trimester of pregnancy entered the study at a prenatal clinic providing genetic counselling information. Subjects who had an indication for genetic amniocentesis based on late maternal age were eligible to participate. Two hundred and thirty-eight completed an environmental questionnaire. A sample of amniotic fluid was taken for karyotype analysis in 323 women and blood samples during pregnancy (209, at birth (105 and from the umbilical cord (97 and breast milk (47 were also collected. These samples were tested for 29 PCB congeners and organochlorine pesticides. Results The concentrations of PCB 153 in these media were relatively low in relation to other studies. Σ PCBs measurements in samples taken during the second trimester of pregnancy, at birth and in the umbilical cord were strongly correlated. Specific measurements of PCB 153 and PCB 180 among those subjects with completed sampling of blood samples from mothers and cord samples were significantly correlated. The concentrations of PCBs and pesticides did not differ in relation to prior spontaneous abortion history. There were no organochlorines present in the amniotic fluid at the current level of quantification. Conclusion Pregnant women from the Western Canada region of Calgary, Alberta are exposed to relatively low concentrations of organochlorines. Measurement of maternal blood during the second trimester of pregnancy can reliably estimate the fetal exposure to PCBs. This estimate is reliable for Group 2 and 3 PCBs as well as PCB 153 and PCB 180. The amniotic fluid does not contain

  15. Characteristics of human amniotic fluid mesenchymal stem cells and their tropism to human ovarian cancer.

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    Liru Li

    Full Text Available The mesenchymal stem cells (MSCs derived from amniotic fluid (AF have become an attractive stem cells source for cell-based therapy because they can be harvested at low cost and avoid ethical disputes. In human research, stem cells derived from AF gradually became a hot research direction for disease treatment, specifically for their plasticity, their reduced immunogenicity and their tumor tropism regardless of the tumor size, location and source. Our work aimed to obtain and characterize human amniotic fluid mesenchymal stem cells (AFMSCs and detect their ovarian cancer tropsim in nude mice model. Ten milliliters of twenty independent amniotic fluid samples were collected from 16-20 week pregnant women who underwent amniocentesis for fetal genetic determination in routine prenatal diagnosis in the first affiliated hospital of Harbin medical university. We successfully isolated the AFMSCs from thirteen of twenty amniotic fluid samples. AFMSCs presented a fibroblastic-like morphology during the culture. Flow cytometry analyses showed that the cells were positive for specific stem cell markers CD73,CD90, CD105, CD166 and HLA-ABC (MHC class I, but negative for CD 45,CD40, CD34, CD14 and HLA-DR (MHC class II. RT-PCR results showed that the AFMSCs expressed stem cell marker OCT4. AFMSCs could differentiate into bone cells, fat cells and chondrocytes under certain conditions. AFMSCs had the high motility to migrate to ovarian cancer site but didn't have the tumorigenicity. This study enhances the possibility of AFMSCs as drug carrier in human cell-based therapy. Meanwhile, the research emphasis in the future can also put in targeting therapy of ovarian cancer.

  16. Prenatal versus postnatal sex steroid hormone effects on autistic traits in children at 18 to 24 months of age

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    Auyeung Bonnie

    2012-12-01

    Full Text Available Abstract Background Studies of prenatal exposure to sex steroid hormones predict autistic traits in children at 18 to 24 and at 96 months of age. However, it is not known whether postnatal exposure to these hormones has a similar effect. This study compares prenatal and postnatal sex steroid hormone levels in relation to autistic traits in 18 to 24-month-old children. Fetal testosterone (fT and fetal estradiol (fE levels were measured in amniotic fluid from pregnant women (n = 35 following routine second-trimester amniocentesis. Saliva samples were collected from these children when they reached three to four months of age and were analyzed for postnatal testosterone (pT levels. Mothers were asked to complete the Quantitative Checklist for Autism in Toddlers (Q-CHAT, a measure of autistic traits in children 18 to 24 months old. Finding fT (but not pT levels were positively associated with scores on the Q-CHAT. fE and pT levels showed no sex differences and no relationships with fT levels. fT levels were the only variable that predicted Q-CHAT scores. Conclusions These preliminary findings are consistent with the hypothesis that prenatal (but not postnatal androgen exposure, coinciding with the critical period for sexual differentiation of the brain, is associated with the development of autistic traits in 18 to 24 month old toddlers. However, it is recognized that further work with a larger sample population is needed before the effects of postnatal androgen exposure on autistic traits can be ruled out. These results are also in line with the fetal androgen theory of autism, which suggests that prenatal, organizational effects of androgen hormones influence the development of autistic traits in later life.

  17. [Cytomegalovirus infection in pregnancy: A fourteen-year review in a pluridisciplinary prenatal center].

    Science.gov (United States)

    Delay, F; Coste Burel, M; Joubert, M; Winer, N

    2016-11-01

    Cytomegalovirus (CMV) is the most frequent cause of congenital infection. The aim of this research was to describe the decision-process for parents to pursue gestation or to ask medical abortion after materno-fetal CMV infection. The primary objective of this study is to analyze the decision-process for parents after materno-fetal infection with positive PCR after amniocentesis, to ask or not a medical termination of pregnancy (TOP). The secondary objectives are to compare ours results with literature review (pronostics factors, ultrasonographic signs and neonatal symptomatology). This is a retrospective study, focused with a pluridisciplinary materno-fetal prenatal medical center, during a 14-year long period. Only 15 patients have been included in the study. They have been divided in 2 groups (the first group who decided to ask a TOP [n=8] and the second group who pursued the gestation [n=7]). We compare respectively their clinical, ultrasonographic, or other imagery and biological paths, before and after the birth. A total of 15/16 patients had a CMV seroconversion before 20weeks of gestation. The only infection after 20SA did not have any sequelae. The ultrasonography and the cerebral fetal MRI appeared to be very complementary for the assesment of brain injury, which is more frequent in the group with a TOP (7/8 versus 4/7). Three neonates out of 4 who had a cord positive viral blood load at birth are presenting neonatal symptoms, 2 of them will have severe brain and hearing injuries, the fourth one had no sequelae after 6months of life. Only the presence of ultrasonographic major brain damages, and confirmation with MRI, had a pejorative value as prognosis factor suggesting to patients to choose a TOP. Nevertheless, other ways of research are possible to assess the prognostic value in this difficult prenatal diagnosis process. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  18. No. 348-Joint SOGC-CCMG Guideline: Update on Prenatal Screening for Fetal Aneuploidy, Fetal Anomalies, and Adverse Pregnancy Outcomes.

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    Audibert, Francois; De Bie, Isabelle; Johnson, Jo-Ann; Okun, Nanette; Wilson, R Douglas; Armour, Christine; Chitayat, David; Kim, Raymond

    2017-09-01

    To review the available prenatal screening options in light of the recent technical advances and to provide an update of previous guidelines in the field of prenatal screening. Health care providers involved in prenatal screening, including general practitioners, obstetricians, midwives, maternal fetal medicine specialists, geneticists, and radiologists. All pregnant women receiving counselling and providing informed consent for prenatal screening. Published literature was retrieved through searches of Medline, PubMed, and the Cochrane Library in and prior to March 2016 using an appropriate controlled vocabulary (prenatal diagnosis, amniocentesis, chorionic villi sampling, non-invasive prenatal screening) and key words (prenatal screening, prenatal genetic counselling). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies written in English and published from January 1985 to May 2016. Searches were updated on a regular basis and incorporated in the guideline. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical speciality societies. Evidence will be reviewed 5 years after publication to determine whether all or part of the guideline should be updated. However, if important new evidence is published prior to the 5-year cycle, the review process may be accelerated for a more rapid update of some recommendations. Copyright © 2017 The Society of Obstetricians and Gynaecologists of Canada/La Société des obstétriciens et gynécologues du Canada. Published by Elsevier Inc. All rights reserved.

  19. Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG).

    Science.gov (United States)

    Cherry, Athena M; Akkari, Yassmine M; Barr, Kimberly M; Kearney, Hutton M; Rose, Nancy C; South, Sarah T; Tepperberg, James H; Meck, Jeanne M

    2017-08-01

    Disclaimer: ACMG Clinical Laboratory Practice Resources are developed primarily as an educational tool for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these practice resources is voluntary and does not necessarily assure a successful medical outcome. This Clinical Laboratory Practice Resource should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the clinical laboratory geneticist should apply his or her own professional judgment to the specific circumstances presented by the individual patient or specimen. Clinical laboratory geneticists are encouraged to document in the patient's record the rationale for the use of a particular procedure or test, whether or not it is in conformance with this Clinical Laboratory Practice Resource. They also are advised to take notice of the date any particular guideline was adopted, and to consider other relevant medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.Noninvasive prenatal screening (NIPS) using cell-free DNA has been rapidly adopted into prenatal care. Since NIPS is a screening test, diagnostic testing is recommended to confirm all cases of screen-positive NIPS results. For cytogenetics laboratories performing confirmatory testing on prenatal diagnostic samples, a standardized testing algorithm is needed to ensure that the appropriate testing takes place. This algorithm includes diagnostic testing by either chorionic villi sampling or amniocentesis samples and encompasses chromosome analysis, fluorescence in situ hybridization, and chromosomal microarray.

  20. Association of Progesterone, Pessary, and Antibiotic for Treating Pregnant Woman with Short Cervix Syndrome: Importance of Magnetic Resonance Imaging in the Assessment of Pessary Position

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    Edward Araujo Júnior

    2013-01-01

    Full Text Available Preterm delivery (PD is the most important cause of neonatal mortality, particularly before the 32 nd week of pregnancy. A short cervix is the most important quantitative marker for predicting PD. However, there are other qualitative markers such as cervical gland area, cervical funneling, and sludge. We present the case of a pregnant woman who was diagnosed with a short cervix at 14-weeks and demonstrate the use of triple therapy, which helped to achieve a good perinatal result. A 37-year-old pregnant woman (G3P0 was referred to our service at 14-weeks of pregnancy presenting with a short cervix (20 mm and a positive sludge sign. She was hospitalized; a pessary was inserted, and started on antibiotic therapy (clindamycin and cefalotin for 10 days. At 20 weeks, she was again admitted to the hospital, and this time presented with a further shortened cervix (9 mm, cervical funneling, and a positive sludge sign, with the pessary in position. The following procedures were performed: Amniocentesis on the sludge (negative bacterioscopy, another cycle of antibiotics, administration of oral progesterone, and imaging to determine retention of pessary position. The patient was placed in the Trendelenburg position and remained hospitalized for 82 days. At 32 + 1 weeks, the fetus presented distress (tachycardia. C-section was performed, producing a live female newborn weighing 2,180 g and presenting Apgar indexes of 8/8. This case report demonstrates the importance of magnetic resonance imaging to assess the position of pessary in a pregnant woman with short cervix.

  1. [Doppler velocimetry of the aorta in materno-fetal blood incompatibility].

    Science.gov (United States)

    Favre, Y; Vetter, K; Huch, R; Huch, A

    1989-01-01

    The underlying pathogenesis of erythroblastosis fetalis is hemolysis of fetal red blood cells mediated by maternal antibodies. The resulting destruction of erythrocytes leads to progressive fetal anemia, and a hypervolemic condition develops in the fetus. The amount of maternal antibodies, real-time ultrasound, amniocentesis and/or cordocentesis can all be used to evaluate the degree of fetal anemia. The work presented here attempts to show that Doppler ultrasound can be used to detect the hypervolemic condition of anemic fetuses. One hundred fifty Doppler examinations were carried out on the aorta in 37 fetuses to evaluate the blood flow velocities and compare these with the fetal hematocrit. For the Doppler analysis, along with bidimensional echography, a Kranzbühler duplex scanner was used. In addition to the usual indices, the ratio of the median velocity to the maximum systolic velocity and an index of resistance using the maximum velocities 1/2 and 2/3 of the way through the cardiac cycle were calculated. Our examinations showed a significant increase in the temporal average of spatial average velocities (TASAV) and in the temporal average of maximum velocities (TAMV or M). The appearance of a spectral window was characteristic and a dicrotism in the curve was often observed. Much experience with the Doppler technique as well as a knowledge of factors influencing the blood flow velocity (caffeine, theine, nicotine, beta-sympathicomimetics) are necessary before attempting an interpretation of Doppler ultrasound results. Although the use of Doppler ultrasound does not yet permit a reduction in the number of invasive examinations, it does allow an improvement in the quality of surveillance of the fetal condition.

  2. Human β-Defensin-2: A natural anti-microbial peptide present in amniotic fluid participates in the host response to microbial invasion of the amniotic cavity

    Science.gov (United States)

    Soto, Eleazar; Espinoza, Jimmy; Nien, Jyh Kae; Kusanovic, Juan; Erez, Offer; Richani, Karina; Santolaya-Forgas, Joaquin; Romero, Roberto

    2012-01-01

    OBJECTIVE Human β-defensin-2 (HBD-2) is a potent anti-microbial peptide that is part of the innate immune response. The purpose of this study was to determine whether HBD-2 is present in amniotic fluid and if its concentration changes with microbial invasion of the amniotic cavity (MIAC) and labor. STUDY DESIGN Amniotic fluid was retrieved by amniocentesis from 318 patients in the following groups: 1) mid-trimester (n=75); 2) term not in labor (n=28) and in labor (n=51); 3) preterm labor and intact membranes without MIAC who delivered at term (n=36), who delivered preterm without MIAC (n=52), and preterm labor with MIAC who delivered preterm (n=25); and 4) preterm premature rupture of membranes (PPROM) with (n=25) and without MIAC (n=26). MIAC was defined as a positive amniotic fluid culture for microorganisms. Amniotic fluid HBD-2 concentrations were determined using a sensitive and specific ELISA. Non-parametric statistics were used for analysis. RESULTS 1) HBD-2 was detected in all amniotic fluid samples; 2) the concentration of HBD-2 did not change with gestational age from midtrimester to term (p=0.8); 3) Intra-amniotic infection was associated with a significant increase in amniotic fluid concentrations of HBD-2 in both women with preterm labor and intact membranes, and women with preterm PROM (p100 cell per ml) had a higher median amniotic fluid concentration of HBD-2 than those without this condition (panti-microbial peptide, and this may account for some of the anti-microbial activity of amniotic fluid; 2) Amniotic fluid HBD-2 concentrations are increased in women with MIAC, regardless of the membrane status (intact membranes or PROM); and 3) We propose that amniotic fluid HBD-2 is part of the innate immune system within the amniotic cavity. PMID:17437194

  3. Maternal obesity affects fetal neurodevelopmental and metabolic gene expression: a pilot study.

    Directory of Open Access Journals (Sweden)

    Andrea G Edlow

    Full Text Available One in three pregnant women in the United States is obese. Their offspring are at increased risk for neurodevelopmental and metabolic morbidity. Underlying molecular mechanisms are poorly understood. We performed a global gene expression analysis of mid-trimester amniotic fluid cell-free fetal RNA in obese versus lean pregnant women.This prospective pilot study included eight obese (BMI≥30 and eight lean (BMI<25 women undergoing clinically indicated mid-trimester genetic amniocentesis. Subjects were matched for gestational age and fetal sex. Fetuses with abnormal karyotype or structural anomalies were excluded. Cell-free fetal RNA was extracted from amniotic fluid and hybridized to whole genome expression arrays. Genes significantly differentially regulated in 8/8 obese-lean pairs were identified using paired t-tests with the Benjamini-Hochberg correction (false discovery rate of <0.05. Biological interpretation was performed with Ingenuity Pathway Analysis and the BioGPS gene expression atlas.In fetuses of obese pregnant women, 205 genes were significantly differentially regulated. Apolipoprotein D, a gene highly expressed in the central nervous system and integral to lipid regulation, was the most up-regulated gene (9-fold. Apoptotic cell death was significantly down-regulated, particularly within nervous system pathways involving the cerebral cortex. Activation of the transcriptional regulators estrogen receptor, FOS, and STAT3 was predicted in fetuses of obese women, suggesting a pro-estrogenic, pro-inflammatory milieu.Maternal obesity affects fetal neurodevelopmental and metabolic gene expression as early as the second trimester. These findings may have implications for postnatal neurodevelopmental and metabolic abnormalities described in the offspring of obese women.

  4. Ascitis fetal masiva idiopática aislada

    Directory of Open Access Journals (Sweden)

    Yolimar Navarro Briceño

    2016-08-01

    Full Text Available La ascitis fetal esta comúnmente asociada a malformaciones gastrointestinales y urinarias, anemia, infección y anomalías cromosómicas. La ascitis fetal masiva idiopática es rara. Se reporta un caso de una embarazada de 33 años referida a las 17 semanas después que se detectó ascitis en ausencia de anomalías estructurales. La evaluación cardiaca y las pruebas diagnósticas de infecciones virales fueron negativas. A las 28 semanas se detectó ascitis masiva sin otros signos de hidrops fetal. La velocidad sistólica pico de la arteria cerebral media fetal estaba elevada. El Doppler de la arteria umbilical, crecimiento fetal y volumen de líquido amniótico estaban normales. El ecocardiograma fetal estaba normal. Se realizó la amniocentesis con resultados normales del cariotipo. A pesar de la persistencia de la ascitis masiva durante el seguimiento, el crecimiento fetal y el volumen de líquido amniótico eran normales con valores elevados de la velocidad sistólica pico de la arteria cerebral media fetal. A las 33 semanas la paciente se realizó cesárea de emergencia por sufrimiento fetal agudo. Se obtuvo un recién nacido vivo femenino normal con valores normales de hemoglobina al nacer. El flujo vascular hepático, vesical y hepato-portal fueron normales. La ascitis se resolvió completamente al octavo día después del nacimiento y el recién nacido fue dado de alta a los 15 días.

  5. Maternal serologic screening to prevent congenital toxoplasmosis: a decision-analytic economic model.

    Directory of Open Access Journals (Sweden)

    Eileen Stillwaggon

    2011-09-01

    Full Text Available To determine a cost-minimizing option for congenital toxoplasmosis in the United States.A decision-analytic and cost-minimization model was constructed to compare monthly maternal serological screening, prenatal treatment, and post-natal follow-up and treatment according to the current French (Paris protocol, versus no systematic screening or perinatal treatment. Costs are based on published estimates of lifetime societal costs of developmental disabilities and current diagnostic and treatment costs. Probabilities are based on published results and clinical practice in the United States and France. One- and two-way sensitivity analyses are used to evaluate robustness of results. Universal monthly maternal screening for congenital toxoplasmosis with follow-up and treatment, following the French protocol, is found to be cost-saving, with savings of $620 per child screened. Results are robust to changes in test costs, value of statistical life, seroprevalence in women of childbearing age, fetal loss due to amniocentesis, and to bivariate analysis of test costs and incidence of primary T. gondii infection in pregnancy. Given the parameters in this model and a maternal screening test cost of $12, screening is cost-saving for rates of congenital infection above 1 per 10,000 live births. If universal testing generates economies of scale in diagnostic tools-lowering test costs to about $2 per test-universal screening is cost-saving at rates of congenital infection well below the lowest reported rates in the United States of 1 per 10,000 live births.Universal screening according to the French protocol is cost saving for the US population within broad parameters for costs and probabilities.

  6. Committee Opinion No. 640: Cell-Free DNA Screening For Fetal Aneuploidy.

    Science.gov (United States)

    2015-09-01

    Noninvasive prenatal screening that uses cell-free DNA from the plasma of pregnant women offers tremendous potential as a screening method for fetal aneuploidy. A number of laboratories have validated different techniques for the use of cell-free DNA as a screening test for fetal aneuploidy. All tests have a high sensitivity and specificity for trisomy 18 and trisomy 21, regardless of which molecular technique is used. Women whose results are not reported, indeterminate, or uninterpretable (a "no call" test result) from cell-free DNA screening should receive further genetic counseling and be offered comprehensive ultrasound evaluation and diagnostic testing because of an increased risk of aneuploidy. Patients should be counseled that cell-free DNA screening does not replace the precision obtained with diagnostic tests, such as chorionic villus sampling or amniocentesis and, therefore, is limited in its ability to identify all chromosome abnormalities. Cell-free DNA screening does not assess risk of fetal anomalies such as neural tube defects or ventral wall defects. Patients who are undergoing cell-free DNA screening should be offered maternal serum alpha-fetoprotein screening or ultrasound evaluation for risk assessment. The cell-free DNA screening test should not be considered in isolation from other clinical findings and test results. Management decisions, including termination of the pregnancy, should not be based on the results of the cell-free DNA screening alone. Patients should be counseled that a negative cell-free DNA test result does not ensure an unaffected pregnancy. Given the performance of conventional screening methods, the limitations of cell-free DNA screening performance, and the limited data on cost-effectiveness in the low-risk obstetric population, conventional screening methods remain the most appropriate choice for first-line screening for most women in the general obstetric population.

  7. Efficacy of the genetic sonogram in a stepwise sequential protocol for down syndrome screening.

    Science.gov (United States)

    Shamshirsaz, Alireza A; Ravangard, Samadh F; Turner, Garry; Borgida, Adam; Janicki, Mary Beth; Campbell, Winston A; Zelop, Carolyn; Shamshirsaz, Amirhoushang A; Spiel, Melissa; Prabulos, Anne Marie; Feldman, Deborah; Rodis, John; Ingardia, Charles J; Gurram, Padmalatha; Fuller, Kisti; Fang, Yu M; Benn, Peter; Egan, James F X

    2013-09-01

    The purpose of this study was to evaluate the efficacy of the genetic sonogram in Down syndrome screening for women who have received the stepwise sequential test. This retrospective cohort study included women with singleton pregnancies who underwent stepwise sequential (first-trimester combined and second-trimester serum) screening and then had a genetic sonogram between March 2005 and January 2010. Stepwise sequential Down syndrome risks were multiplied by either a positive or negative likelihood ratio based on the second-trimester sonographic findings to determine the final Down syndrome risk. A final Down syndrome risk of 1:270 or higher was considered screen positive. A total of 6286 women fulfilled our criteria, including 17 with Down syndrome-affected fetuses. After stepwise sequential testing, the Down syndrome detection rate was 88.2% (15 of 17), and after the genetic sonogram, there was a non-significant reduction in detection to 82.4% (14 of 17; P > .05). For the 6269 unaffected pregnancies, the genetic sonogram converted 58 screen-negative results (1%) to positive and 183 screen-positive results (3.1%) to negative. The net effect was a change in the false-positive rate from 6.2% (390 of 6269) after stepwise sequential screening to 4.2% (266 of 6269) after the genetic sonogram. The genetic sonogram should be applied cautiously for women who have received prior prenatal screening tests. Women with screen-positive results need to be counseled that a negative sonographic result can be falsely reassuring. Conversely, for women with screen-negative results who have a risk close to the cutoff, a sonographic examination could assist in the decision of whether to accept or reject amniocentesis.

  8. Committee Opinion Summary No. 640: Cell-Free DNA Screening For Fetal Aneuploidy.

    Science.gov (United States)

    2015-09-01

    Noninvasive prenatal screening that uses cell-free DNA from the plasma of pregnant women offers tremendous potential as a screening method for fetal aneuploidy. A number of laboratories have validated different techniques for the use of cell-free DNA as a screening test for fetal aneuploidy. All tests have a high sensitivity and specificity for trisomy 18 and trisomy 21, regardless of which molecular technique is used. Women whose results are not reported, indeterminate, or uninterpretable (a "no call" test result) from cell-free DNA screening should receive further genetic counseling and be offered comprehensive ultrasound evaluation and diagnostic testing because of an increased risk of aneuploidy. Patients should be counseled that cell-free DNA screening does not replace the precision obtained with diagnostic tests, such as chorionic villus sampling or amniocentesis and, therefore, is limited in its ability to identify all chromosome abnormalities. Cell-free DNA screening does not assess risk of fetal anomalies such as neural tube defects or ventral wall defects. Patients who are undergoing cell-free DNA screening should be offered maternal serum alpha-fetoprotein screening or ultrasound evaluation for risk assessment. The cell-free DNA screening test should not be considered in isolation from other clinical findings and test results. Management decisions, including termination of the pregnancy, should not be based on the results of the cell-free DNA screening alone. Patients should be counseled that a negative cell-free DNA test result does not ensure an unaffected pregnancy. Given the performance of conventional screening methods, the limitations of cell-free DNA screening performance, and the limited data on cost-effectiveness in the low-risk obstetric population, conventional screening methods remain the most appropriate choice for first-line screening for most women in the general obstetric population.

  9. Amniotic fluid stem cells with low γ-interferon response showed behavioral improvement in Parkinsonism rat model.

    Directory of Open Access Journals (Sweden)

    Yu-Jen Chang

    Full Text Available Amniotic fluid stem cells (AFSCs are multipotent stem cells that may be used in transplantation medicine. In this study, AFSCs established from amniocentesis were characterized on the basis of surface marker expression and differentiation potential. To further investigate the properties of AFSCs for translational applications, we examined the cell surface expression of human leukocyte antigens (HLA of these cells and estimated the therapeutic effect of AFSCs in parkinsonian rats. The expression profiles of HLA-II and transcription factors were compared between AFSCs and bone marrow-derived mesenchymal stem cells (BMMSCs following treatment with γ-IFN. We found that stimulation of AFSCs with γ-IFN prompted only a slight increase in the expression of HLA-Ia and HLA-E, and the rare HLA-II expression could also be observed in most AFSCs samples. Consequently, the expression of CIITA and RFX5 was weakly induced by γ-IFN stimulation of AFSCs compared to that of BMMSCs. In the transplantation test, Sprague Dawley rats with 6-hydroxydopamine lesioning of the substantia nigra were used as a parkinsonian-animal model. Following the negative γ-IFN response AFSCs injection, apomorphine-induced rotation was reduced by 75% in AFSCs engrafted parkinsonian rats but was increased by 53% in the control group after 12-weeks post-transplantation. The implanted AFSCs were viable, and were able to migrate into the brain's circuitry and express specific proteins of dopamine neurons, such as tyrosine hydroxylase and dopamine transporter. In conclusion, the relative insensitivity AFSCs to γ-IFN implies that AFSCs might have immune-tolerance in γ-IFN inflammatory conditions. Furthermore, the effective improvement of AFSCs transplantation for apomorphine-induced rotation paves the way for the clinical application in parkinsonian therapy.

  10. Skeletal abnormalities in fetuses with Down's syndrome: a radiographic post-mortem study

    International Nuclear Information System (INIS)

    Stempfle, N.; Brisse, H.; Huten, Y.; Fredouille, C.; Nessmann, C.

    1999-01-01

    Objective. To evaluate skeletal abnormalities on post-mortem radiographs of fetuses with Down's syndrome. Materials and methods. Biometrical and morphological criteria, which are used for US prenatal detection of trisomy 21, were assessed. Limb long bones, biparietal diameter (BPD)/occipito-frontal diameter (OFD) ratio, ossification of nasal bones and appearance of the middle phalanx of the fifth digit (P2) in 60 fetuses with Down's syndrome were analysed and compared with 82 normal fetuses matched for gestational age (GA) from 15 to 40 weeks' gestation (WG). Results. We observed reduced growth velocity of limb long bones during the third trimester in both groups, but the reduction was more pronounced in the trisomic group. Brachycephaly was found as early as 15 WG in Down's syndrome and continued throughout gestation (sensitivity 0.28, specificity 1). Ossification of the nasal bones, which can be detected in normal fetuses from 14 WG, was absent in one quarter of trisomic fetuses, regardless of GA. The middle phalanx of the fifth digit was evaluated by comparison with the distal phalanx (P3) of the same digit. We found that P2 was not ossified in 11/31 trisomic fetuses before 23 WG, and was either not ossified or hypoplastic in 17/29 cases after 24 WG (sensitivity 0.56, specificity 1). Conclusions. Three key skeletal signs were present in trisomic fetuses: brachycephaly, absence of nasal bone ossification, and hypoplasia of the middle phalanx of the fifth digit. All these signs are appropriate to prenatal US screening. When present, they fully justify determination of the fetal karyotype by amniocentesis. (orig.)

  11. [Pena-Shokeir syndrome type I--combination of polyhydramnios and pulmonary hypoplasia in fetal akinesia].

    Science.gov (United States)

    Deli, Tamás; Kovács, Tamás

    2010-06-13

    We present the case of an 18-year-old woman with her second pregnancy, whose first pregnancy was complicated by polyhydramnios. At week 30, the dysmorph fetus died in utero and was delivered via cesarean section due to placental abruption, but the exact diagnosis was not recognized at that time. During the patient's second pregnancy, increasing polyhydramnios was detected from the 19th gestational week. Ultrasound signs of fetal malformation also appeared later: abnormal position of limbs, narrow chest, oedema around the skull, and absence of stomach content. At week 34, decompression amniocentesis became necessary. Chromosome analysis was also carried out and a normal karyotype was obtained. At 39th gestational week, amnioscopy proved meconium staining of the amniotic fluid, thus labour was induced. Following amniotomy, sustained fetal bradycardia commenced and an emergency caesarean section was performed. Despite complex resuscitation, the 3000 gram male newborn died 2.5 hours after delivery, due to respiratory failure. Autopsy and histopathologic examination revealed a large, oedematous head, micrognathia, macroglossia, laryngeal oedema, narrow chest with pulmonary hypoplasia, gracile limbs with muscle atrophy, gracile and bent fingers, and a short umbilical cord. Based on the medical history, the course of the disease and the phenotype of the newborn, Pena-Shokeir syndrome type I was diagnosed. In the second part of the article, we review the etiology, pathogenesis, prenatal diagnosis and differential diagnosis of this syndrome, as well as some aspects of genetic counseling in such cases. To our knowledge, this is the first reported case of Pena-Shokeir syndrome in Hungary.

  12. Proteomic Analysis of Early Mid-Trimester Amniotic Fluid Does Not Predict Spontaneous Preterm Delivery.

    Science.gov (United States)

    Hallingström, Maria; Lenco, Juraj; Vajrychova, Marie; Link, Marek; Tambor, Vojtech; Liman, Victor; Bullarbo, Maria; Nilsson, Staffan; Tsiartas, Panagiotis; Cobo, Teresa; Kacerovsky, Marian; Jacobsson, Bo

    2016-01-01

    The aim of this study was to identify early proteomic biomarkers of spontaneous preterm delivery (PTD) in mid-trimester amniotic fluid from asymptomatic women. This is a case-cohort study. Amniotic fluid from mid-trimester genetic amniocentesis (14-19 weeks of gestation) was collected from 2008 to 2011. The analysis was conducted in 24 healthy women with subsequent spontaneous PTD (cases) and 40 randomly selected healthy women delivering at term (controls). An exploratory phase with proteomics analysis of pooled samples was followed by a verification phase with ELISA of individual case and control samples. The median (interquartile range (IQR: 25th; 75th percentiles) gestational age at delivery was 35+5 (33+6-36+6) weeks in women with spontaneous PTD and 40+0 (39+1-40+5) weeks in women who delivered at term. In the exploratory phase, the most pronounced differences were found in C-reactive protein (CRP) levels, that were approximately two-fold higher in the pooled case samples than in the pooled control samples. However, we could not verify these differences with ELISA. The median (25th; 75th IQR) CRP level was 95.2 ng/mL (64.3; 163.5) in women with spontaneous PTD and 86.0 ng/mL (51.2; 145.8) in women delivering at term (p = 0.37; t-test). Proteomic analysis with mass spectrometry of mid-trimester amniotic fluid suggests CRP as a potential marker of spontaneous preterm delivery, but this prognostic potential was not verified with ELISA.

  13. Proteomic Analysis of Early Mid-Trimester Amniotic Fluid Does Not Predict Spontaneous Preterm Delivery.

    Directory of Open Access Journals (Sweden)

    Maria Hallingström

    Full Text Available The aim of this study was to identify early proteomic biomarkers of spontaneous preterm delivery (PTD in mid-trimester amniotic fluid from asymptomatic women.This is a case-cohort study. Amniotic fluid from mid-trimester genetic amniocentesis (14-19 weeks of gestation was collected from 2008 to 2011. The analysis was conducted in 24 healthy women with subsequent spontaneous PTD (cases and 40 randomly selected healthy women delivering at term (controls. An exploratory phase with proteomics analysis of pooled samples was followed by a verification phase with ELISA of individual case and control samples.The median (interquartile range (IQR: 25th; 75th percentiles gestational age at delivery was 35+5 (33+6-36+6 weeks in women with spontaneous PTD and 40+0 (39+1-40+5 weeks in women who delivered at term. In the exploratory phase, the most pronounced differences were found in C-reactive protein (CRP levels, that were approximately two-fold higher in the pooled case samples than in the pooled control samples. However, we could not verify these differences with ELISA. The median (25th; 75th IQR CRP level was 95.2 ng/mL (64.3; 163.5 in women with spontaneous PTD and 86.0 ng/mL (51.2; 145.8 in women delivering at term (p = 0.37; t-test.Proteomic analysis with mass spectrometry of mid-trimester amniotic fluid suggests CRP as a potential marker of spontaneous preterm delivery, but this prognostic potential was not verified with ELISA.

  14. Proteomics and bioinformatics analysis reveal underlying pathways of infection associated histologic chorioamnionitis in pPROM.

    Science.gov (United States)

    Tambor, V; Kacerovsky, M; Lenco, J; Bhat, G; Menon, R

    2013-02-01

    The presence of microbial invasion of the amniotic cavity (MIAC) and histological chorioamnionitis (HCA) is associated with adverse neonatal outcomes in pregnancies complicated by preterm prelabor rupture of membranes (pPROM). Therefore, there is an urgent need to identify new biomarkers revealing these conditions. The objective of this study is to identify possible biomarkers and their underlying biofunctions in pPROM pregnancies with and without MIAC and HCA. A total of 72 women with pPROM were recruited. Only women with both MIAC and HCA (n = 19) and all women without these complications (n = 19) having the same range of gestational ages at sampling were included in the study. Samples of amniotic fluid were obtained by transabdominal amniocentesis, processed and analyzed using quantitative shotgun proteomics. Ingenuity pathway analysis was used to identify molecular networks that involve altered proteins. Network interaction identified by ingenuity pathway analysis revealed immunological disease and the inflammatory response as the top functions and disease associated with pPROM in the presence of MIAC and HCA. The proteins involved in these pathways were significantly altered between the groups with and without the presence of both MIAC and HCA. Proteins involved included histones H3, H4, H2B, cathelicidin antimicrobial peptide, myeloperoxidase, neutrophil gelatinase-associated lipocalin, matrix metalloproteinase-9, peptidoglycan recognition protein-1 and neutrophil defensin 1, all of which were found to be up-regulated in the presence of MIAC and HCA. Bioinformatic analysis of proteomics data allowed us to project likely biomolecular pathology resulting in pPROM complicated by MIAC and HCA. As inflammation is not a homogeneous phenomenon, we provide evidence for oxidative-stress-associated DNA damage and biomarkers of reactive oxygen species generation as factors associated with inflammation and proteolysis. Copyright © 2012 Elsevier Ltd. All rights reserved.

  15. Reproductive health and genetic testing in the Third World.

    Science.gov (United States)

    Penchaszadeh, V B

    1993-09-01

    New reproductive genetics means recently developed techniques to prevent the birth of children with specific defects or genetic diseases by testing individuals for sickle cell anemia, the thalassemias, Tay-Sachs disease, cystic fibrosis, or Down syndrome. Third World health services have many deficiencies with high maternal mortality rates (30-40 fold higher than in developed countries), the low percentage of births delivered by health personnel, the high rates of low birth weight babies, and high child malnutrition and infant mortality rates. The main issues in women's reproductive health are fertility regulation, abortion, maternal mortality, sexually transmitted diseases, and infertility. As a result of expansion in contraceptive use worldwide, the total fertility rate in developing countries has declined from 6.1 in 1965 to 3.9 in 1990. It is estimated that, worldwide, 36-53 million induced abortions are performed each year, most of them in developing nations. WHO estimates that more than 500,000 women die each year because of complications of pregnancy, most in developing countries. More than 95% of the 13 million estimated deaths of children under 5 years of age have occurred in these countries. Approximately 200 million people carry a potentially pathologic hemoglobinopathy gene, and about 250,000 children are born every year with hemoglobinopathy, most of them in the developing world. Reproductive genetic testing in big cities and in private for-profit ventures cater to the socioeconomic elite. Amniocentesis is often misused for fetal sex determination to abort female fetuses in India. Currently, in Cuba virtually every pregnant woman is tested for sickle cell trait and maternal serum alpha-fetoprotein levels between 15 and 20 weeks of gestation. It is predicted that the judicious use of reproductive genetic testing will be possible when health and quality of life issues are addressed properly.

  16. Public policies and reproductive technology: a feminist critique.

    Science.gov (United States)

    Mccormack, T

    1991-01-01

    Reproductive technology comprises abortion, contraception, amniocentesis (more than 40 genetic disorders can be diagnosed), chorionic villus sampling, genetic screening (to reduce the risk of chromosomal defects such as Down syndrome, sickle cell anemia, Tay-Sachs disease, and cystic fibrosis), in vitro fertilization, artificial insemination by spouse or donor, the development of sperm banks, storage of frozen sperm (cryopreservation), the development of artificial wombs, techniques for predetermining the sex of a fetus, and nursery environments to maintain a fetus removed from the womb in the 1st trimester. In recent years, the demand for these services has increased because of higher infertility and the drop in the number of babies available for adoption. Surrogacy is especially controversial: it has become a symbol of the dehumanization of modern life and the exploitation of women. The feminist perspective discloses how patriarchal values about the subordinate status of women, about the nature of motherhood, infertility, and the family are both implicit and explicit in prevailing thinking about reproduction. The new technology offers women who wish to remain unmarried the opportunity to have a family, and it enables lesbian women to bear children. The research literature favors a Eurocentric nuclear family without any awareness that in Canada, and in the Western world, new forms of family life have been evolving as couples marry, divorce, and remarry. There is no awareness either that in other cultures this Eurocentric nuclear model is dysfunctional. Because of the rigid notion of the 2-parent nuclear family, the 3rd parties who are involved in either surrogate relationships or artificial insemination are deprecated. The feminist literature is more critical of the nuclear family, but it has been sometimes inconsistent on the relevant issues.

  17. The Epidemiology and Demographics of Hip Dysplasia

    Science.gov (United States)

    Loder, Randall T.; Skopelja, Elaine N.

    2011-01-01

    The etiology of developmental dysplasia of the hip (DDH) is unknown. There are many insights, however, from epidemiologic/demographic information. A systematic medical literature review regarding DDH was performed. There is a predominance of left-sided (64.0%) and unilateral disease (63.4%). The incidence per 1000 live births ranges from 0.06 in Africans in Africa to 76.1 in Native Americans. There is significant variability in incidence within each racial group by geographic location. The incidence of clinical neonatal hip instability at birth ranges from 0.4 in Africans to 61.7 in Polish Caucasians. Predictors of DDH are breech presentation, positive family history, and gender (female). Children born premature, with low birth weights, or to multifetal pregnancies are somewhat protected from DDH. Certain HLA A, B, and D types demonstrate an increase in DDH. Chromosome 17q21 is strongly associated with DDH. Ligamentous laxity and abnormalities in collagen metabolism, estrogen metabolism, and pregnancy-associated pelvic instability are well-described associations with DDH. Many studies demonstrate an increase of DDH in the winter, both in the northern and southern hemispheres. Swaddling is strongly associated with DDH. Amniocentesis, premature labor, and massive radiation exposure may increase the risk of DDH. Associated conditions are congenital muscular torticollis and congenital foot deformities. The opposite hip is frequently abnormal when using rigorous radiographic assessments. The role of acetabular dysplasia and adult hip osteoarthritis is complex. Archeological studies demonstrate that the epidemiology of DDH may be changing. PMID:24977057

  18. Vertically acquired hepatitis C virus infection: Correlates of transmission and disease progression.

    Science.gov (United States)

    Tovo, Pier-Angelo; Calitri, Carmelina; Scolfaro, Carlo; Gabiano, Clara; Garazzino, Silvia

    2016-01-28

    The worldwide prevalence of hepatitis C virus (HCV) infection in children is 0.05%-0.4% in developed countries and 2%-5% in resource-limited settings, where inadequately tested blood products or un-sterile medical injections still remain important routes of infection. After the screening of blood donors, mother-to-child transmission (MTCT) of HCV has become the leading cause of pediatric infection, at a rate of 5%. Maternal HIV co-infection is a significant risk factor for MTCT and anti-HIV therapy during pregnancy seemingly can reduce the transmission rate of both viruses. Conversely, a high maternal viral load is an important, but not preventable risk factor, because at present no anti-HCV treatment can be administered to pregnant women to block viral replication. Caution is needed in adopting obstetric procedures, such as amniocentesis or internal fetal monitoring, that can favor fetal exposure to HCV contaminated maternal blood, though evidence is lacking on the real risk of single obstetric practices. Mode of delivery and type of feeding do not represent significant risk factors for MTCT. Therefore, there is no reason to offer elective caesarean section or discourage breast-feeding to HCV infected parturients. Information on the natural history of vertical HCV infection is limited. The primary infection is asymptomatic in infants. At least one quarter of infected children shows a spontaneous viral clearance (SVC) that usually occurs within 6 years of life. IL-28B polymorphims and genotype 3 infection have been associated with greater chances of SVC. In general, HCV progression is mild or moderate in children with chronic infection who grow regularly, though cases with marked liver fibrosis or hepatic failure have been described. Non-organ specific autoantibodies and cryoglobulins are frequently found in children with chronic infection, but autoimmune diseases or HCV associated extrahepatic manifestations are rare.

  19. Current Selection Criteria and Perioperative Therapy Used for Fetal Myelomeningocele Surgery.

    Science.gov (United States)

    Moise, Kenneth J; Moldenhauer, Julie S; Bennett, Kelly A; Goodnight, William; Luks, Francois I; Emery, Stephen P; Tsao, Kuojen; Moon-Grady, Anita J; Moore, R Clifton; Treadwell, Marjorie C; Vlastos, Emanuel J; Wetjen, Nicholas M

    2016-03-01

    To determine the current maternal and fetal selection criteria and operative approaches used at centers performing fetal myelomeningocele surgery. The 17 principal investigators participating in the Fetal Myelomeningocele Consortium were asked to participate in an anonymous online survey regarding the current practice of maternal-fetal surgery for neural tube defect repair and results were tabulated. The 35-question survey related to diagnostic testing, inclusion and exclusion criteria, and clinical management. Sixty-five percent (11/17) of principal investigators responded to the survey and not all centers responded to all 35 questions. All centers continue to use magnetic resonance imaging in their preoperative evaluation. Diagnostic testing from amniocentesis is varied: 5 of 11 (45%) require amniotic fluid α-fetoprotein, 4 of 10 (40%) amniotic fluid acetylcholinesterase, and 8 of 11 (73%) DNA microarray. There is also variation from the Management of Myelomeningocele Study with regard to body mass index (BMI) (1/11; 9% would offer surgery with BMIs higher than 35), maternal medical risk factors (surgery would be offered for controlled pregestational diabetes [3/10 (30%)]), hepatitis C with negative viral load (4/11 [36%]), and human immunodeficiency virus with an undetectable viral load (1/10 [10%] or an obstetric history [3/11 (27%)] would offer surgery with a history of preterm delivery on progesterone). Ten of 11 (91%) centers did not consider ventriculomegaly of 18 mm and 9 of 11 (82%) centers did not consider lack of leg movement as an exclusion criteria. Nuances in the perioperative and intraoperative management were also reported, including 5 of 11 (45%) use intraoperative echocardiography and alterations in postoperative tocolytics. Variation in practice patterns for offering and performing maternal-fetal surgery for myelomeningocele repair exists among centers. Ongoing evaluation of inclusion and exclusion criteria as well as operative techniques is

  20. Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism.

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    Hsu, Hui-Fang; Hou, Jia-Woei

    2007-08-01

    Patau syndrome (trisomy 13) is very rare in live-born babies. Individuals with this chromosomal syndrome have a short lifespan and are rarely seen beyond infancy. This study is aimed at the clinical spectrum, natural history, and survival of patients with trisomy 13. We reviewed the detailed data of 13 Patau syndrome live-born babies. Among them two individuals were delivered from continuation of pregnancy even after prenatal diagnosis. The remaining 11 patients were born to younger mothers who did not undergo amniocentesis because no major anomalies except for cleft lip/palate were found on prenatal sonograms. The common features of Patau syndrome including the clinical triad (microphthalmia, cleft lip/palate, and polydactyly) and non-cyanotic heart defects were always found in our series. However, certain serious central defects (holoprosencephaly, omphalocele, and single umbilical artery), which are easily recognized from prenatal sonogram, occurred less frequently than those stated in the literature. The median survival time was 95 days and was longer than that previously reported. There were two infants with trisomic mosaicism with different outcomes in both clinical spectrum and survival. Otherwise, we also found the increased recurrence risks of aneuploidy in two individuals, and the longest survivor (84 months) of non-mosaic trisomy 13 in Taiwan. We thus suggest that long-term survival in our series is strongly correlated with different expressivity after prenatal selection, in addition to cytogenetic mosaicism. Less associated anomalies such as polyhydramnios, oligohydramnios, intrauterine growth retardation, single umbilical artery, eye defects, holoprosencephaly, omphalocele, and polycystic kidney may contribute to their clinical courses. (c) 2007 Wiley-Liss, Inc.

  1. Characteristics of human amniotic fluid mesenchymal stem cells and their tropism to human ovarian cancer.

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    Li, Liru; Wang, Dejun; Zhou, Jun; Cheng, Yan; Liang, Tian; Zhang, Guangmei

    2015-01-01

    The mesenchymal stem cells (MSCs) derived from amniotic fluid (AF) have become an attractive stem cells source for cell-based therapy because they can be harvested at low cost and avoid ethical disputes. In human research, stem cells derived from AF gradually became a hot research direction for disease treatment, specifically for their plasticity, their reduced immunogenicity and their tumor tropism regardless of the tumor size, location and source. Our work aimed to obtain and characterize human amniotic fluid mesenchymal stem cells (AFMSCs) and detect their ovarian cancer tropsim in nude mice model. Ten milliliters of twenty independent amniotic fluid samples were collected from 16-20 week pregnant women who underwent amniocentesis for fetal genetic determination in routine prenatal diagnosis in the first affiliated hospital of Harbin medical university. We successfully isolated the AFMSCs from thirteen of twenty amniotic fluid samples. AFMSCs presented a fibroblastic-like morphology during the culture. Flow cytometry analyses showed that the cells were positive for specific stem cell markers CD73,CD90, CD105, CD166 and HLA-ABC (MHC class I), but negative for CD 45,CD40, CD34, CD14 and HLA-DR (MHC class II). RT-PCR results showed that the AFMSCs expressed stem cell marker OCT4. AFMSCs could differentiate into bone cells, fat cells and chondrocytes under certain conditions. AFMSCs had the high motility to migrate to ovarian cancer site but didn't have the tumorigenicity. This study enhances the possibility of AFMSCs as drug carrier in human cell-based therapy. Meanwhile, the research emphasis in the future can also put in targeting therapy of ovarian cancer.

  2. Non-invasive prenatal detection of trisomy 21 using tandem single nucleotide polymorphisms.

    Directory of Open Access Journals (Sweden)

    Sujana Ghanta

    Full Text Available BACKGROUND: Screening tests for Trisomy 21 (T21, also known as Down syndrome, are routinely performed for the majority of pregnant women. However, current tests rely on either evaluating non-specific markers, which lead to false negative and false positive results, or on invasive tests, which while highly accurate, are expensive and carry a risk of fetal loss. We outline a novel, rapid, highly sensitive, and targeted approach to non-invasively detect fetal T21 using maternal plasma DNA. METHODS AND FINDINGS: Highly heterozygous tandem Single Nucleotide Polymorphism (SNP sequences on chromosome 21 were analyzed using High-Fidelity PCR and Cycling Temperature Capillary Electrophoresis (CTCE. This approach was used to blindly analyze plasma DNA obtained from peripheral blood from 40 high risk pregnant women, in adherence to a Medical College of Wisconsin Institutional Review Board approved protocol. Tandem SNP sequences were informative when the mother was heterozygous and a third paternal haplotype was present, permitting a quantitative comparison between the maternally inherited haplotype and the paternally inherited haplotype to infer fetal chromosomal dosage by calculating a Haplotype Ratio (HR. 27 subjects were assessable; 13 subjects were not informative due to either low DNA yield or were not informative at the tandem SNP sequences examined. All results were confirmed by a procedure (amniocentesis/CVS or at postnatal follow-up. Twenty subjects were identified as carrying a disomy 21 fetus (with two copies of chromosome 21 and seven subjects were identified as carrying a T21 fetus. The sensitivity and the specificity of the assay was 100% when HR values lying between 3/5 and 5/3 were used as a threshold for normal subjects. CONCLUSIONS: In summary, a targeted approach, based on calculation of Haplotype Ratios from tandem SNP sequences combined with a sensitive and quantitative DNA measurement technology can be used to accurately detect fetal

  3. Amniotic Fluid Soluble Myeloid Differentiation-2 (sMD-2) as Regulator of Intra-amniotic Inflammation in Infection-induced Preterm Birth.

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    Dulay, Antonette T; Buhimschi, Catalin S; Zhao, Guomao; Oliver, Emily A; Abdel-Razeq, Sonya S; Shook, Lydia L; Bahtiyar, Mert O; Buhimschi, Irina A

    2015-06-01

    TLR4 mediates host responses to pathogens through a mechanism that involves protein myeloid differentiation-2 (MD-2) and its soluble form sMD-2. The role of sMD2 in intra-amniotic inflammation-induced preterm birth has not been previously explored. Human amniotic fluid (AF) sMD-2 was studied by Western blotting in 152 AF samples of patients who had an amniocentesis to rule-out infection (yes infection, n = 50; no infection, n = 50) or women with normal pregnancy outcome (second trimester genetic karyotyping, n = 26; third trimester lung maturity testing, n = 26). Histological localization and mRNA expression of MD2 in fetal membranes were studied by immunohistochemistry and RT-PCR. The ability of fetal membrane to release sMD-2 and inflammatory cytokines was studied in vitro. Human AF contains three sMD-2 proteoforms whose levels of expression were lower at term. Intra-amniotic infection upregulated sMD-2. MD-2 mRNA and immunohistochemistry findings concurred. In vitro, LPS and monensin increased, while cycloheximide decreased sMD-2 production. Recombinant sMD-2 modulated TNF-α and IL-6 levels in a dose- and time-dependent fashion. sMD2 proteoforms are constitutively present in human AF. The intensity of the intra-amniotic inflammatory response to bacteria or perhaps to other TLR4 ligands may be facilitated through synthesis and release of sMD2 by the amniochorion. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  4. Tay-Sachs disease screening and counseling families at risk for metabolic disease.

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    Sutton, V Reid

    2002-06-01

    Carrier testing for Tay-Sachs disease should be offered to couples when at least one individual is of Ashkenazi Jewish (carrier frequency 1/30), Pennsylvania Dutch, Southern Louisiana Cajun, or Eastern Quebec French Canadian descent. Ideally, testing is done prior to conception. For Ashkenazi Jews, in whom DNA testing identifies 99.9% of carriers, DNA testing is the preferred method to ascertain carriers [14]. For non-Jewish individuals seeking carrier testing, enzyme assay should be done initially and positive or indeterminate results should be confirmed by DNA mutation analysis. If only one partner is descended from a high-risk group, that person should be tested first; only if he/ she is a carrier should the other partner be tested. If the couple is pregnant at the time carrier testing is requested, both partners should have enzyme testing (leukocyte assay for the pregnant woman and serum assay for the father) and DNA testing sent concomitantly to expedite counseling and action. Carriers are individuals with a disease causing DNA mutation or carrier range enzyme analysis results on both serum and leukocytes with no detectable mutation and no pseudodeficiency alleles. Noncarriers are individuals with normal enzyme results or carrier range enzyme results and a pseudodeficiency allele on DNA mutation analysis. If both partners are found to be carriers they should be counseled of a 25% risk of having an affected child with each pregnancy. Options to modify this risk include prenatal diagnosis by amniocentesis or chorionic villus sampling, egg or sperm donation, preimplantation diagnosis or adoption.

  5. [Seven patients of argininemia with spastic tetraplegia as the first and major symptom and prenatal diagnosis of two fetuses with high risk].

    Science.gov (United States)

    Wu, Tongfei; Li, Xiyuan; Ding, Yuan; Liu, Yupeng; Song, Jinqing; Wang, Qiao; Li, Mengqiu; Qin, Yaping; Yang, Yanling

    2015-06-01

    Argininemia is a rare disorder of urea cycle defect. The clinical manifestations of this disorder are similar to those of cerebral palsy so that the diagnosis is usually much delayed. This study aimed to investigate the phenotypes and genotypes of seven Chinese patients suffering from argininemia. Three boys and four girls with spastic tetraplegia were diagnosed as argininemia by blood aminoacids analysis and ARG1 gene study. Patients were given a protein-restricted diet, citrulline, sodium benzoate, and other treatment intervention. The mother of Patient 5 and 6 accepted genetic counseling and underwent prenatal diagnosis by amniocentesis. Seven patients presented with progressive spastic tetraplegia and poor physical growth from the age of 1 month to 4 years. Argininemia was found at the age of 1 year and 10 months to 12 years. Five patients had mental retardations. Three had seizures. Their blood arginine elevated (86.66 to 349.83 µmol/L, normal controls 5 to 25 µmol/L). Liver dysfunction was found in six patients. Five patients had elevated blood ammonia levels. In four patients, cerebral atrophy was observed by cranial magnetic resonance imaging. Nine mutations in the ARG1 gene were identified from 7 patients. Only two mutations, c.703G > A in exon 7 and c.32T > C in exon 1 had been reported. c.34G > T, c.53G > A, c.67delG, c.232dupG, c.374C > T, c.539G > C and c.646-649delCTCA, were novel mutations of ARG1. A homozygous mutation c.703G > A was found in the amniocytes of Patient 5's mother, indicating that the fetus was affected by argininemia. Induced abortion was performed. c.53G > A from Patient 6 was not found in the amniocytes of her mother, indicating that the fetus was not affected by hepatocyte arginase deficiency. The result was confirmed by postnatal mutation analysis of cord blood and the normal blood arginine of the newborn. Argininemia is one of the few treatable causes of pediatric spastic paralysis. In this study, seven Chinese patients with

  6. Pre-natal diagnosis of thalassaemia in Sri Lanka: A ten year review.

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    Nanayakkara, Kalinga Khemal; Rodrigo, Undugodage Ganganath; Perera, Kuda Liyanage Nandika; Nanayakkara, Chinthani Deepthi

    2017-10-01

    Thalassaemia is the commonest monogenic disease in Sri Lanka, affecting over 3500 children and half-a-million thalassaemia carriers. This is a review of 82 amniocenteses performed from 2006 to 2016, in the largest prenatal diagnoses study for thalassaemia carried out in Sri Lanka. Amniocenteses were performed between 11 and 12 weeks of ultrasonically confirmed gestation, on mothers with previous thalassaemia major children pregnant for the second time and nulliparous thalassaemia trait women married to trait partners. The Consultant Radiologist, using local analgesia, under ultrasound cover, performed these as an outpatient procedure, at the Teaching Hospital Kandy & Suwasevana Hospital Kandy. The amniotic fluid was analysed by the team of Senior Geneticists, at the Genetech Molecular Diagnostics and School of Gene Technology, Colombo, via the polymerase-chain-reaction based ARMS (Amplification Refractory Mutation Systems) assay. The genetic results indicated the presence of 21% thalassaemia major foetuses, 53% thalassaemia traits and 26% foetuses without thalassaemia mutations. The predominance of the IVS1-5(G-C) mutation in the Sri Lankan population is exemplified, with a low prevalence of HbE thalassaemia. Impact statement Thalassaemia is the commonest monogenic disease in Sri Lanka affecting over 3500 children and half-a-million thalassaemia carriers. Although pre-natal diagnosis by amniocentesis was practised universally for many years, this could not be performed in Sri Lanka as genetic diagnostic facilities were not available until 2005. Therefore, parents with a thalassaemia major child limited their families to one child, by choice or by termination. The results of this study point to a 21% probability of thalassaemia major in the next child, giving the parents a guarded optimism to conceive another child without thalassaemia disease. With siblings being the highest HLA compatibility for Bone Marrow Transplant, that is now being established in Sri Lanka

  7. Non-invasive prenatal cell-free fetal DNA testing for down syndrome and other chromosomal abnormalities

    Directory of Open Access Journals (Sweden)

    Darija Strah

    2015-12-01

    Full Text Available Background: Chorionic villus sampling and amniocentesis as definitive diagnostic procedures represent a gold standard for prenatal diagnosis of chromosomal abnormalities. The methods are invasive and lead to a miscarriage and fetal loss in approximately 0.5–1 %. Non-invasive prenatal DNA testing (NIPT is based on the analysis of cell-free fetal DNA from maternal blood. It represents a highly accurate screening test for detecting the most common fetal chromosomal abnormalities. In our study we present the results of NIPT testing in the Diagnostic Center Strah, Slovenia, over the last 3 years.Methods: In our study, 123 pregnant women from 11th to 18th week of pregnancy were included. All of them had First trimester assessment of risk for trisomy 21, done before NIPT testing.Results: 5 of total 6 high-risk NIPT cases (including 3 cases of Down syndrome and 2 cases of Klinefelter’s syndrome were confirmed by fetal karyotyping. One case–Edwards syndrome was false positive. Patau syndrome, triple X syndrome or Turner syndrome were not observed in any of the cases. Furthermore, there were no false negative cases reported. In general, NIPT testing had 100 % sensitivity (95 % confidence interval: 46.29 %–100.00 % and 98.95 % specificity (95 % confidence interval: 93.44 %–99.95 %. In determining Down syndrome alone, specificity (95 % confidence interval: 95.25 %- 100.00 % and sensitivity (95 % confidence interval: 31.00 %–100.00 % turned out to be 100 %. In 2015, the average turnaround time for analysis was 8.3 days from the day when the sample was taken. Repeated blood sampling was required in 2 cases (redraw rate = 1.6 %.Conclusions: Our results confirm that NIPT represents a fast, safe and highly accurate advanced screening test for most common chromosomal abnormalities. In current clinical practice, NIPT would significantly decrease the number of unnecessary invasive procedures and the rate of fetal

  8. Periodontal disease and intra-amniotic complications in women with preterm prelabor rupture of membranes.

    Science.gov (United States)

    Radochova, Vladimira; Kacerovska Musilova, Ivana; Stepan, Martin; Vescicik, Peter; Slezak, Radovan; Jacobsson, Bo; Kacerovsky, Marian

    2017-08-04

    Periodontal disease is frequently suggested as a possible causal factor for preterm delivery. The link between periodontal disease and preterm delivery is a possible translocation of periopathogenic bacteria to the placenta and amniotic fluid as well as a systemic response to this chronic inflammatory disease. However, there is a lack of information on whether there is an association between clinical periodontal status in women with preterm prelabor rupture of membranes (PPROM) and the presence of microbial invasion of the amniotic cavity (MIAC) and intra-amniotic inflammation (IAI). Therefore, the main aim of this study was to evaluate the incidence and severity of periodontal disease in women with PPROM. The secondary aim was to characterize an association between periodontal status and the presence of intra-amniotic PPROM complications (MIAC and/or IAI). Seventy-eight women with PPROM at gestational ages between 24 + 0 and 36 + 6 weeks were included in this study. The samples of amniotic fluid were obtained at admission via transabdominal amniocentesis, and amniotic fluid interleukin (IL)-6 concentrations were determined using a point-of-care test. All women had a full-mouth recording to determine the periodontal and oral hygiene status. Probing pocket depth and clinical attachment loss were measured at four sites on each fully erupted tooth. In total, 45% (35/78) of women with PPROM had periodontal disease. Mild, moderate, and severe periodontal disease was present in 19% (15/78), 19% (15/78), and 6% (5/78) of women, respectively. The presence of MIAC and IAI was found in 28% (22/78) and 26% (20/78) of women, respectively. Periopathogenic bacteria (2 × Streptococcus intermedius and 1 × Fusobacterium nucleatum) was found in the amniotic fluid of 4% (3/78) of women. There were no differences in periodontal status between women with MIAC and/or IAI and women without these intra-amniotic complications. The presence of MIAC and IAI was not related

  9. Successful treatment of Rh alloimmunization in a twin pregnancy: case report

    Directory of Open Access Journals (Sweden)

    Rahimi Sharbaf F

    2008-09-01

    Full Text Available "n Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin-top:0in; mso-para-margin-right:0in; mso-para-margin-bottom:10.0pt; mso-para-margin-left:0in; line-height:115%; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin;} Background: The prevalence of Rh alloimmunization has decreased following the use of anti-D immunoglobulin. With serial amniocentesis, Doppler sonography of the middle cerebral artery and treatment of anemia with intrauterine blood transfusion, perinatal mortality has declined. However, Rh alloimmunization in twin pregnancies poses a diagnostic and therapeutic challenge."n"n Case report: We are reporting, for the first time in Iran, the successful treatment of severe Rh alloimmunization in a dichorionic- diamnionic twin pregnancy leading to the live births of both neonates. Before treatment, the fetal hemoglobin levels were 3.1g/dL and 3.9g/dL, with ascites in both fetuses. The fetuses were treated with several IUTs."n"n Results: After treatment, the neonates were delivered, weighing 2200 and 2300g, with good Apgar scores, at a gestational age of 34 weeks. "n"n Conclusion: 10% of population in Iran is Rh-negative, although Prophylaxis for Rh alloimmunization is universal, as other part of the world it cannot irrigated. For the best management of these cases, we need a well-equipped referral center."n"n Keywords: Twin, pregnancy, Rh alloimmunization, intrauterine blood transfusion, Doppler, middle cerebral

  10. Persistent microbial dysbiosis in preterm premature rupture of membranes from onset until delivery

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    Elizabeth A. Baldwin

    2015-11-01

    responsible for one third of all preterm births. It is thought that subclinical infection is a crucial factor in the pathophysiology of PPROM because 25–40% of patients present signs of chorioamnionitis on amniocentesis. Here we sought to directly assess the bacterial content of the vagina and leaking amniotic fluid of subjects at presentation, throughout treatment and up until delivery, in order to search for common pathogens, microbiota changes, and microbial response to latency antibiotic treatment. We have found that the vaginal microbiome of PPROM subjects is highly variable and displays significant changes to treatment. However, the unchanging deficiency of Lactobacillus, and persistence of known pathogenic species, such as Prevotella and Peptoniphilus from presentation, through antibiotic treatment and up until delivery, highlights the persistent dysbiosis and warrants further investigation into mitigating approaches.

  11. Management of preterm premature rupture of membranes.

    Science.gov (United States)

    Veille, J C

    1988-12-01

    In conclusion, the suggested management for PROM follows two general principles. The first principle, which is accepted by most, consists of searching for a positive history of PROM, confirming PROM (by speculum examination, pooling, positive Nitrazine testing, and ferning), and obtaining cervical and vaginal cultures (for group B streptococcus/gonococcus and chlamydia). If free-flowing fluid from the cervix is seen, or if pooling is present, a sample should be sent for L-S and PG analysis. The cervix is assessed (for position, dilatation, and abnormalities), monitoring of maternal vital signs and fetal heart rate is done, white blood cell and differentials are obtained, and finally, immediate ultrasonogrpahy should be performed to document fetal position and viability, the number of fetuses, the amount of amniotic fluid, fetal anatomy, gestational age, and estimated weight. The other principle is a controversial one. It involves the use of amniocentesis for determination of fetal lung maturity and the presence of bacteria (if technically feasible); the use of a short course of tocolysis (terbutaline, 0.250 mg subcutaneously, or a similar medication for patient evaluation) if patient has contractions and all information is not yet available; the administration of steroids to accelerate fetal lung maturity; and finally, the administration of prophylactic antibiotics. In any event, delivery is indicated if there is clinical evidence of chorioamnionitis, as evidenced by maternal fever and tachycardia, tender uterus, fetal tachycardia, elevated white blood cell count with bands or left shift, and a positive Gram stain on examination of amniotic fluid. Antibiotic prophylaxis or treatment is only used if group B streptococcus or N. gonorrhea, or both, are present. Cesarean sections are reserved for obstetrical indications only. Furthermore, delivery is also indicated if there is evidence of lung maturity, fetal distress, active labor or advanced cervical dilatation

  12. Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.

    Science.gov (United States)

    Li, Xiyuan; Ding, Yuan; Liu, Yupeng; Ma, Yanyan; Song, Jinqing; Wang, Qiao; Li, Mengqiu; Qin, Yaping; Yang, Yanling

    2015-11-01

    Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder that affects the degradation of branched chain amino acids (BCAAs). Only a few cases of MSUD have been documented in Mainland China, and prenatal diagnosis has not been performed so far. In this report, 8 patients (4 girls and 4 boys) with MSUD from 8 unrelated Chinese families were diagnosed at the age of 9 days to 1 year and 8 months. The diagnosis was confirmed by serum BCAAs and genetic analyses. Among the 8 patients, only one was detected by newborn screening. The remaining 7 patients were admitted because of neurological disorders and underwent selective screening. Significantly elevated BCAAs were observed in 7 patients. One patient was diagnosed by post-mortem study. 12 mutations were found in the BCKDHA, BCKDHB and DBT genes. 11 of these mutations were novel: c.178G > T, c.491T > C, c.740A > G, c.1214_1219dupCCAACC and IVS6+1delG in BCKDHA; c.482T > G, c.508C > T, c.767A > G, c.768C > G and IVS4,-2A > C in BCKDHB; and c.1A > G in DBT. Only one mutation, c.659C > T in the BCKDHA gene, had been previously reported. 7 patients were treated by dietary intervention and symptomatic therapy. 6 of them showed clinical improvement. The mother of one patient who died from MSUD underwent amniocentesis during her second pregnancy. The BCAAs level in her amniotic fluid was normal. Only one heterozygous mutation, IVS4,-2A > C in the BCKDHB gene, was detected in the cultured amniocytes. The results revealed that the fetus was not affected by MSUD. Normal development and the blood BCAAs profile confirmed the prenatal diagnosis after birth. Thus, we identified eleven novel mutations associated with MSUD in the Chinese population. Prenatal diagnosis of MSUD was successfully performed on one fetus by genetic analysis of the cultured amniocytes. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  13. [Genetic questions of hemophilia].

    Science.gov (United States)

    Weissbach, G; Lenk, H

    1981-06-01

    Haemophilia A and B are X-chromosomally recessively inherited. In the GDR the frequency of these genuine haemophilias is 1 to 6,500 male births. The frequency of sporadic haemophilias is still in dispute and certainly depends on the intensity of genealogic examinations. The mutation rate for haemophilia A is estimated to 1.3 to 3.6 x 10(-5). In secure female conductors the lyonisation evokes a considerable dispersion of the factor VIII coagulation activity, wherefore this is able to prove also only a small proportion, about 20-50%. The lyonisation apparently takes place in a critical anlage of less than 32 cells. Bleeding female conductors are in the first place the sequel of extreme lyonisation, more infrequently homozygotes or such ones with anomalies of the X-chromosomes. The state of female conductors is best characterized by th discrepancy between decreased factor VIII coagulation activity and the normal factor VIII associated antigen. At present numerous variants of this female conductor test are used, particularly concerning its calculatory evaluation. In many places only quotients from the two parameters are formed. Discriminancy-analytical methods brings without doubt better results. They allow to coordinate a certain probability to each result, which with the help of genealogic criteria may be combined to an evidence. Immunochemical determinations of the factor IX are certainly not of value for the proof of the state of female conductors of haemophilia B. The prenatal diagnostics of sex is recommended for pregnant conductors by amniocentesis in the 14th week of pregnancy. Only in few countries the prenatal diagnostics of haemophilia is possible. In blood tests taken by means of fetoscopy beginning with the 18th week of pregnancy the factor VIII coagulation property is determined by immunoradiometrical methods or recently even by means of a coagulation method. Though for the genetic consultation only female conductors in the reproductive phase are of

  14. Sex preference and its effect on family size and child welfare.

    Science.gov (United States)

    Williamson, N E

    1982-12-01

    Sex discrimination begins before birth in many parts of the world. Many cultures have myths about how parents can increase their chances of having a son. There is now a test, anmiocentesis, that provides the scientific method for determining sex before birth. The text involves examining the chromosomes in the amniotic fluid. Until now little advantage has been taken of this knowledge since amniocentesis is uncommon around the world. There are recent news reports that assert that in India female fetuses are being aborted. The same has been rumored for China. Sex selection may become more widespread as the technology of sex detection improves. Currently, an abortion for the purpose of sex selection must be performed in the 2nd trimester of pregnancy because the test can be done only after the 3rd or 4th month of pregnancy. A technology which permits very early sex detection could, when combined with early menstrual regulation, have widespread ramifications, particularly since the preference for sons is so widespread. Son preference is common throughout the world and is unusually strong in Arab countries and in South Asia. It is fairly mild in Latin America and Southeast Asia. In Africa sex preference has not become a public issue for fertility is so high. Policymakers in countries such as Bangladesh, China, India, Pakistan, South Korea, and Taiwan have recently become concerned about sex preference for their objective is to reduce the population growth rates of their countries. Among countries with son preference China is unusual in that the government has tried to undermine the basis for son preference. It has encouraged families with an only daughter to adopt a son-in-law and have him take the family name. It has tried to equalize women's position in marriage and the economy. The policymakers in other countries assume that son preference will diminish with modernization. Family planning workers in most Asian countries assume that sex preference affects family size

  15. Nevoid basal cell carcinoma syndrome (Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Lo Muzio Lorenzo

    2008-11-01

    Full Text Available Abstract Nevoid basal cell carcinoma syndrome (NBCCS, also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs, odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies. Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling. Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome. Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser

  16. Rh isoimmunization in Sub-Saharan Africa indicates need for universal access to anti-RhD immunoglobulin and effective management of D-negative pregnancies.

    Science.gov (United States)

    Osaro, Erhabor; Charles, Adias Teddy

    2010-12-01

    Transplacental or fetomaternal hemorrhage (FMH) may occur during pregnancy or at delivery and lead to immunization to the D antigen if the mother is Rh-negative and the baby is Rh-positive. This can result in hemolytic disease of the fetus and newborn (HDFN) in subsequent D-positive pregnancies. The aim of this study is to highlight the challenges associated with the effective management and prevention of Rh alloimmunization among Rh-negative women in Sub-Saharan Africa. In most Sub-Saharan African countries, there is poor and sometimes no alloimmunization prevention following potentially sensitizing events and during medical termination of pregnancy in Rh-negative women. Information about previous pregnancies and termination are often lacking in patients' medical notes due to poor data management. These issues have made the management of Rh-negative pregnancy a huge challenge. Despite the fact that the prevalence of Rh-negative phenotype is significantly lower among Africans than Caucasians, Rh alloimmunization remains a major factor responsible for perinatal morbidity in Sub-Saharan Africa and may result in the compromise of the woman's obstetric care due to the unaffordability of anti-D immunoglobulin. There is the urgent need for the implementation of universal access to anti-D immunoglobulin for the Rh-negative pregnant population in Africa. Anti-D immunoglobulin should be available in cases of potentially sensitizing events such as amniocentesis, cordocentesis, antepartum hemorrhage, vaginal bleeding during pregnancy, external cephalic version, abdominal trauma, intrauterine death and stillbirth, in utero therapeutic interventions, miscarriage, and therapeutic termination of pregnancy. There is also the need for the availability of FMH measurements following potentially sensitizing events. The low-cost acid elution method, a modification of the Kleihauer-Betke (KB) test, can become a readily available, affordable, and minimum alternative to flow cytometric

  17. A review of trisomy X (47,XXX

    Directory of Open Access Journals (Sweden)

    Sutherland Ashley

    2010-05-01

    Full Text Available Abstract Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX. It is the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births. As some individuals are only mildly affected or asymptomatic, it is estimated that only 10% of individuals with trisomy X are actually diagnosed. The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly. Seizures, renal and genitourinary abnormalities, and premature ovarian failure (POF can also be associated findings. Children with trisomy X have higher rates of motor and speech delays, with an increased risk of cognitive deficits and learning disabilities in the school-age years. Psychological features including attention deficits, mood disorders (anxiety and depression, and other psychological disorders are also more common than in the general population. Trisomy X most commonly occurs as a result of nondisjunction during meiosis, although postzygotic nondisjunction occurs in approximately 20% of cases. The risk of trisomy X increases with advanced maternal age. The phenotype in trisomy X is hypothesized to result from overexpression of genes that escape X-inactivation, but genotype-phenotype relationships remain to be defined. Diagnosis during the prenatal period by amniocentesis or chorionic villi sampling is common. Indications for postnatal diagnoses most commonly include developmental delays or hypotonia, learning disabilities, emotional or behavioral difficulties, or POF. Differential diagnosis prior to definitive karyotype results includes fragile X, tetrasomy X, pentasomy X, and Turner syndrome mosaicism. Genetic counseling is recommended. Patients diagnosed in the prenatal period should be followed closely for developmental delays so that early intervention therapies can be implemented as needed. School-age children and

  18. Wilson v. Kuenzi, 17 May 1988.

    Science.gov (United States)

    1988-01-01

    The parents of a child born with Down's Syndrome brought a wrongful birth action on their own behalf and a wrongful life action on the behalf of their child against their physician, claiming that he had failed to advise the mother of the availability of amniocentesis, thus precluding her from having an abortion to prevent birth. The Court dismissed the actions, ruling that no such actions were recognized in Missouri in 1983, the time that the negligence of the physician was alleged to have occurred. In 1988, other US courts held as follows with respect to wrongful birth, wrongful life, and wrongful pregnancy actions: 1) no recovery allowed for costs of rearing a healthy child born as a result of failed sterilization or abortion (Marciniak vs. Lundborg, Court of Appeals of Wisconsin, 15 November 1988 [147 Wis.2d 556]); (Johnson vs. University Hospitals of Cleveland, Court of Appeals of Ohio, 14 January 1988 [1988 Ohio App. Lexis 228]); (Harmath vs. Goler, Court of Appeals of Ohio, 22 December 1988 [1988 Ohio App. Lexis 5196]); (Butler vs. Rolling Hill Hospital, Common Pleas Court of Philadelphia County, 2 March 1988 [17 Phila. 134]); (Goforth vs. Porter Medical Associates, Inc., Supreme Court of Oklahoma, 31 May 1988 [755 P.2d 678]); (Wofford vs. Davis, Supreme Court of Oklahoma, 18 October 1988 [764 P.2d 161]); 2) recovery of expenses allowed for pregnancy, delivery, and pain and suffering, but not for special expenses regarding deformity of child born as the result of a failed tubal ligation (Pitre vs. Opelousas General Hospital, Supreme Court of Louisiana, 12 September 1988 [530 So.2d 1151]); 3) action for wrongful birth not allowed with respect to child born with undiagnosed Down's Syndrome (Rolf vs. Youngblood, Missouri Court of Appeals, 3 May 1988 [753 S.W.2d]); 4) recovery allowed of costs of medical and hospital expenses, physical and mental pain and suffering, lost wages, and punitive damages, but not costs of rearing a healthy child (C.S. vs. Nielson

  19. Distribution of thalassemias and associated hemoglobinopathies identified by prenatal diagnosis in Taiwan.

    Science.gov (United States)

    Peng, Ching-Tien; Liu, Su-Ching; Peng, Yi-Chin; Lin, Tsai-Hsiu; Wang, Shiow-Jain; Le, Ching-Yi; Shih, Mu-Chin; Tien, Ni; Lu, Jang-Jih; Lin, Chien-Yu

    2013-10-01

    Hemoglobin (Hb) gene disorders are common hereditary disorders in Taiwan, and α- and β-thalassemias are among the well-known Hb disorders here. Our study provides a primary reference for designing a locally relevant antenatal diagnostic test to control the spread of thalassemia. Between 1998 and 2011, prenatal diagnoses for identifying thalassemia and hemoglobinopathies were performed on 1240 fetuses at risk for α-hydrops and β-thalassemia major. Of 1240 specimens analyzed, 1082 (87%) were obtained by amniocentesis; 125 (10%), by chorionic villus sampling; and 33 (3%), by cordocentesis. Prenatal diagnoses revealed that 21.5% of these fetuses as thalassemia major (including α-thalassemia hydrops, β-thalassemia major, and Hb E/β-thalassemia); 50.2%, for thalassemia minor (include α-thalassemia carrier, β-thalassemia carrier, and α-thalassemia combined β-thalassemia carrier); and 28.3% for normal type (include non-α, β-thalassemia). The most common α-hydrops were SEA (Southeast Asian) and Philippine type (frequencies of 74.91 and 5.24%, respectively). The frequency of the IVS-II-654 combined codons 41/42 mutation, the most common β-thalassemia major mutation in this region, was 5.24%. Two fetuses were found with E/β-thalassemia (HbE/IVS-II-654 and HbE/codons 41/42, respectively). Since 1993, Taiwan's Department of Health adopted a national program for screening pregnancies to control spread of thalassemia. In the last 10years, less than 3 such cases have occurred per year. After 2003, this number was 0 for a total of 4years (2003, 2004, 2007, and 2008). In Taiwan, incidence and frequency of thalassemia genotypes were similar to those previously reported. The national program for screening pregnancies to control spread of thalassemia that resulted in a marked decline in the number of newborns with thalassemia major. Interestingly, prenatal diagnoses revealed 21.5% for thalassemia major, 50.2% for thalassemia minor, 28.3% normal comparison of thalassemia

  20. Clinical chorioamnionitis at term VI: acute chorioamnionitis and funisitis according to the presence or absence of microorganisms and inflammation in the amniotic cavity

    Science.gov (United States)

    Romero, Roberto; Chaemsaithong, Piya; Docheva, Nikolina; Korzeniewski, Steven J.; Kusanovic, Juan P.; Yoon, Bo Hyun; Kim, Jung-Sun; Chaiyasit, Noppadol; Ahmed, Ahmed I.; Qureshi, Faisal; Jacques, Suzanne M.; Kim, Chong Jai; Hassan, Sonia S.; Chaiworapongsa, Tinnakorn; Yeo, Lami; Kim, Yeon Mee

    2017-01-01

    Objective Neonates born to mothers with clinical chorioamnionitis at term are at an increased risk of infection. Acute subchorionitis, chorioamnionitis, and funisitis are considered placental histologic features consistent with acute inflammation according to the Society for Pediatric Pathology. The objectives of this study were to examine the performance of placental histologic features in the identification of: 1) microbial-associated intra-amniotic inflammation (intra-amniotic infection); and 2) a fetal inflammatory response syndrome (FIRS). Methods and Materials This retrospective cohort study included women with the diagnosis of clinical chorioamnionitis at term (n=45), who underwent an amniocentesis to determine: 1) the presence of microorganisms using both cultivation and molecular biologic techniques [polymerase chain reaction (PCR) with broad range primers]; and 2) interleukin (IL)-6 concentrations by enzyme-linked immunosorbent assay (ELISA). The diagnostic performance (sensitivity, specificity, accuracy, and likelihood ratios) of placental histologic features consistent with acute inflammation was determined for the identification of microbial-associated intra-amniotic inflammation and FIRS. Results 1) The presence of acute histologic chorioamnionitis and funisitis was associated with the presence of proven intra-amniotic infection assessed by amniotic fluid analysis; 2) funisitis was also associated with the presence of FIRS; 3) the negative predictive value of acute funisitis ≥ stage 2 for the identification of neonates born to mothers with intra-amniotic infection was less than 50%, and therefore, suboptimal to exclude fetal exposure to bacteria in the amniotic cavity; and 4) acute funisitis ≥ stage 2 had a negative predictive value of 86.8% for the identification of FIRS in a population with a prevalence of 20%. Conclusion Acute histologic chorioamnionitis and funisitis are associated with intra-amniotic infection and the presence of FIRS

  1. Detection and sequencing of Zika virus from amniotic fluid of fetuses with microcephaly in Brazil: a case study.

    Science.gov (United States)

    Calvet, Guilherme; Aguiar, Renato S; Melo, Adriana S O; Sampaio, Simone A; de Filippis, Ivano; Fabri, Allison; Araujo, Eliane S M; de Sequeira, Patricia C; de Mendonça, Marcos C L; de Oliveira, Louisi; Tschoeke, Diogo A; Schrago, Carlos G; Thompson, Fabiano L; Brasil, Patricia; Dos Santos, Flavia B; Nogueira, Rita M R; Tanuri, Amilcar; de Filippis, Ana M B

    2016-06-01

    The incidence of microcephaly in Brazil in 2015 was 20 times higher than in previous years. Congenital microcephaly is associated with genetic factors and several causative agents. Epidemiological data suggest that microcephaly cases in Brazil might be associated with the introduction of Zika virus. We aimed to detect and sequence the Zika virus genome in amniotic fluid samples of two pregnant women in Brazil whose fetuses were diagnosed with microcephaly. In this case study, amniotic fluid samples from two pregnant women from the state of Paraíba in Brazil whose fetuses had been diagnosed with microcephaly were obtained, on the recommendation of the Brazilian health authorities, by ultrasound-guided transabdominal amniocentesis at 28 weeks' gestation. The women had presented at 18 weeks' and 10 weeks' gestation, respectively, with clinical manifestations that could have been symptoms of Zika virus infection, including fever, myalgia, and rash. After the amniotic fluid samples were centrifuged, DNA and RNA were extracted from the purified virus particles before the viral genome was identified by quantitative reverse transcription PCR and viral metagenomic next-generation sequencing. Phylogenetic reconstruction and investigation of recombination events were done by comparing the Brazilian Zika virus genome with sequences from other Zika strains and from flaviviruses that occur in similar regions in Brazil. We detected the Zika virus genome in the amniotic fluid of both pregnant women. The virus was not detected in their urine or serum. Tests for dengue virus, chikungunya virus, Toxoplasma gondii, rubella virus, cytomegalovirus, herpes simplex virus, HIV, Treponema pallidum, and parvovirus B19 were all negative. After sequencing of the complete genome of the Brazilian Zika virus isolated from patient 1, phylogenetic analyses showed that the virus shares 97-100% of its genomic identity with lineages isolated during an outbreak in French Polynesia in 2013, and that in

  2. Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation.

    Science.gov (United States)

    Guissart, C; Dubucs, C; Raynal, C; Girardet, A; Tran Mau Them, F; Debant, V; Rouzier, C; Boureau-Wirth, A; Haquet, E; Puechberty, J; Bieth, E; Dupin Deguine, D; Khau Van Kien, P; Brechard, M P; Pritchard, V; Koenig, M; Claustres, M; Vincent, M C

    2017-03-01

    Analysis of cell-free foetal DNA (cff-DNA) in maternal plasma is very promising for early diagnosis of monogenic diseases; in particular, cystic fibrosis (CF). However, NIPD of single-gene disorders has been limited by the availability of suitable technical platforms and the need to set up patient or disease-specific custom-made approaches. To make research applications more readily accessible to the clinic, we offer a simple assay combining two independent methods to determine the presence or absence of paternally inherited foetal allele p.Phe508del (the most frequent mutation in CF patients worldwide). The first method detects the presence or absence of a p.Phe508del allele by Mutant Enrichment with 3'-Modified Oligonucleotide PCR coupled to Fragment Length Analysis (MEMO-PCR-FLA). The second method detects the p.Phe508del allele with classical Multiplex Fluorescent PCR including five intragenic and extragenic STR markers of the CFTR locus and a specific SRY sequence. We collected 24 plasma samples from 23 women carrying foetuses at risk for CF and tested each sample using both methods. Our new procedures were successfully applied to 10 couples where fathers carried the p.Phe508del mutation and mothers were carrying a different mutation in the CFTR gene. These simple tests provided clear positive or negative results from the maternal plasma of the pregnant women. We confirmed the presence of cff-DNA in the studied samples by the identification of a tri-allelic DNA profile using a miniSTR kit. All results were correlated with chorionic villus sampling or amniocentesis analyses. This NIPD approach, easily set up in any clinical laboratory where prenatal diagnosis is routinely performed, offers many advantages over current methods: it is simple, rapid, and cost-effective. It opens up the possibility for testing a large number of couples with offspring at risk for CF. Copyright © 2016 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  3. Diagnóstico laboratorial do líquido amniótico Laboratory diagnosis of amniotic fluid

    Directory of Open Access Journals (Sweden)

    Sabrina Gonçalves Campana

    2003-09-01

    Full Text Available O presente trabalho tem como objetivos a definição e a fisiologia do líquido amniótico, ressaltando aspectos citológicos e principais técnicas para diagnóstico laboratorial das patologias mais freqüentes. A metodologia utilizada foi a revisão bibliográfica atualizada relacionando os aspectos citológicos com a idade gestacional e técnicas laboratoriais para diagnóstico das principais patologias em que são observadas alterações do líquido amniótico, concluindo-se que este é um importante componente do ambiente intra-uterino. Sua produção e absorção dependem de uma série de mecanismos interdependentes entre o feto, a placenta, as membranas e o organismo materno. Atualmente este fluido pode fornecer inúmeras informações sobre a saúde fetal, realizando-se diversas técnicas, entre elas a amniocentese e a dosagem de alfafetoproteína, que pode detectar defeitos do tubo neural e trissomia do cromossomo 21. A análise do líquido amniótico reforça a importância da realização adequada de um pré-natal, sendo importante relacionar os resultados laboratoriais com a clínica.This present paper aims the definition of the amniotic fluid and its physiology standing out cytological aspects and main techniques for laboratorial diagnosis of the most frequent pathologies. The methodology was based on updated bibliographical research relating the cytological aspects with the pregnancy age and laboratorial techniques for diagnosis of the main pathologies in which alterations of the amniotic fluid are observed, concluding that this is an important component of the intrauterine environment. Its production and absorption depend on a series of interdependent mechanisms among the fetus, the placenta, the membranes and the maternal organism. Currently this fluid can supply innumerable information on the fetal health by the use of diverse techniques, among which, amniocentesis and dosage of alpha-fetoprotein, which can detect defects of the

  4. Citomegalovirose congênita: relato de caso Congenital cytomegalovirus infection: a case report

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    Patrícia de Fátima Azevedo

    2005-12-01

    Full Text Available A citomegalovirose congênita sintomática é entidade clínica de grande importância devido a sua vasta sintomatologia fetal. No Brasil, o diagnóstico intra-útero é ainda pouco realizado, apesar do grande arsenal propedêutico. Relatamos um caso de citomegalovirose congênita grave com hepatoesplenomegalia, agenesia parcial do vérmix cerebelar, calcificações intracranianas, placentomegalia, aumento da ecogenicidade intestinal e renal, cardiomegalia, hipoplasia pulmonar, derrame pericárdico e ascite. A ressonância nuclear magnética fetal foi utilizada para confirmação dos achados ultra-sonográficos. A amniocentese foi realizada para análise do líquido amniótico por meio da PCR, sendo evidenciado resultado positivo. O óbito fetal foi constatado na 31ª semana de gestação, sendo confirmados os achados através da citopatologia e estudo anatomopatológico do natimorto. O arsenal propedêutico existente, na atualidade, para diagnóstico intra-útero da citomegalovirose congênita é de grande importância para confirmação diagnóstica e determinação do prognóstico fetal.Congenital cytomegalovirus infection is an important clinical entity, due to its sonographic symptomatology. In Brazil, in utero diagnosis is not accomplished despite the improvements in diagnostic methods. We report a congenital infection including: splenomegaly and hepatomegaly, hypoplasia of the cerebellar vermis, intracranial calcifications, hyperechoic kidneys, hyperechoic bowel, cardiomegaly, lung hypoplasia, ascites, and pericardial effusion. Fetal magnetic resonance imaging confirmed the sonographic findings. Amniocentesis was performed for cytomegalovirus PCR in amniotic fluid, which confirmed fetal infection. Fetal loss occurred in the 31st week of pregnancy. Necropsy studies confirmed the sonographic findings. The diagnostic methods have been useful to confirm congenital cytomegalovirus infection and to establish fetal outcome.

  5. Fragile X testing in obstetrics and gynaecology in Canada.

    Science.gov (United States)

    Chitayat, David; Wyatt, Philip R

    2008-09-01

    elevated level of follicle stimulating hormone before the age of 40. (III-A) 5. Prenatal fetal testing via chorionic villus sampling or amniocentesis should be offered to women who are confirmed to be carriers of a premutation or full mutation of the fragile X gene (FMR-1). (II-2A) Pre-implantation genetic diagnosis is available as another reproductive option. (III-A) 6. Population screening for fragile X syndrome for all women in the reproductive age-range is feasible. However, it should be considered only when there is a provincial/regional program that can test and adequately counsel the targeted population about the meaning and implications of the results. (II-2B).

  6. Jacobsen syndrome

    Directory of Open Access Journals (Sweden)

    Grossfeld Paul

    2009-03-01

    Full Text Available Abstract Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears. Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be

  7. Hypoxanthine-guanine phosophoribosyltransferase (HPRT deficiency: Lesch-Nyhan syndrome

    Directory of Open Access Journals (Sweden)

    Puig Juan G

    2007-12-01

    Full Text Available Abstract Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT activity is an inborn error of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzymatic deficiency. The prevalence is estimated at 1/380,000 live births in Canada, and 1/235,000 live births in Spain. Uric acid overproduction is present inall HPRT-deficient patients and is associated with lithiasis and gout. Neurological manifestations include severe action dystonia, choreoathetosis, ballismus, cognitive and attention deficit, and self-injurious behaviour. The most severe forms are known as Lesch-Nyhan syndrome (patients are normal at birth and diagnosis can be accomplished when psychomotor delay becomes apparent. Partial HPRT-deficient patients present these symptoms with a different intensity, and in the least severe forms symptoms may be unapparent. Megaloblastic anaemia is also associated with the disease. Inheritance of HPRT deficiency is X-linked recessive, thus males are generally affected and heterozygous female are carriers (usually asymptomatic. Human HPRT is encoded by a single structural gene on the long arm of the X chromosome at Xq26. To date, more than 300 disease-associated mutations in the HPRT1 gene have been identified. The diagnosis is based on clinical and biochemical findings (hyperuricemia and hyperuricosuria associated with psychomotor delay, and enzymatic (HPRT activity determination in haemolysate, intact erythrocytes or fibroblasts and molecular tests. Molecular diagnosis allows faster and more accurate carrier and prenatal diagnosis. Prenatal diagnosis can be performed with amniotic cells obtained by amniocentesis at about 15–18 weeks' gestation, or chorionic villus cells obtained at about 10–12 weeks' gestation. Uric acid overproduction can be managed by allopurinol treatment. Doses must be carefully adjusted to avoid xanthine lithiasis. The

  8. A review of trisomy X (47,XXX).

    Science.gov (United States)

    Tartaglia, Nicole R; Howell, Susan; Sutherland, Ashley; Wilson, Rebecca; Wilson, Lennie

    2010-05-11

    Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). It is the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births. As some individuals are only mildly affected or asymptomatic, it is estimated that only 10% of individuals with trisomy X are actually diagnosed. The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly. Seizures, renal and genitourinary abnormalities, and premature ovarian failure (POF) can also be associated findings. Children with trisomy X have higher rates of motor and speech delays, with an increased risk of cognitive deficits and learning disabilities in the school-age years. Psychological features including attention deficits, mood disorders (anxiety and depression), and other psychological disorders are also more common than in the general population. Trisomy X most commonly occurs as a result of nondisjunction during meiosis, although postzygotic nondisjunction occurs in approximately 20% of cases. The risk of trisomy X increases with advanced maternal age. The phenotype in trisomy X is hypothesized to result from overexpression of genes that escape X-inactivation, but genotype-phenotype relationships remain to be defined. Diagnosis during the prenatal period by amniocentesis or chorionic villi sampling is common. Indications for postnatal diagnoses most commonly include developmental delays or hypotonia, learning disabilities, emotional or behavioral difficulties, or POF. Differential diagnosis prior to definitive karyotype results includes fragile X, tetrasomy X, pentasomy X, and Turner syndrome mosaicism. Genetic counseling is recommended. Patients diagnosed in the prenatal period should be followed closely for developmental delays so that early intervention therapies can be implemented as needed. School-age children and adolescents benefit from a

  9. Effect of enhanced information, values clarification, and removal of financial barriers on use of prenatal genetic testing: a randomized clinical trial.

    Science.gov (United States)

    Kuppermann, Miriam; Pena, Sherri; Bishop, Judith T; Nakagawa, Sanae; Gregorich, Steven E; Sit, Anita; Vargas, Juan; Caughey, Aaron B; Sykes, Susan; Pierce, Lasha; Norton, Mary E

    2014-09-24

    Prenatal genetic testing guidelines recommend providing patients with detailed information to allow informed, preference-based screening and diagnostic testing decisions. The effect of implementing these guidelines is not well understood. To analyze the effect of a decision-support guide and elimination of financial barriers to testing on use of prenatal genetic testing and decision making among pregnant women of varying literacy and numeracy levels. Randomized trial conducted from 2010-2013 at prenatal clinics at 3 county hospitals, 1 community clinic, 1 academic center, and 3 medical centers of an integrated health care delivery system in the San Francisco Bay area. Participants were English- or Spanish-speaking women who had not yet undergone screening or diagnostic testing and remained pregnant at 11 weeks' gestation (n = 710). A computerized, interactive decision-support guide and access to prenatal testing with no out-of-pocket expense (n = 357) or usual care as per current guidelines (n = 353). The primary outcome was invasive diagnostic test use, obtained via medical record review. Secondary outcomes included testing strategy undergone, and knowledge about testing, risk comprehension, and decisional conflict and regret at 24 to 36 weeks' gestation. Women randomized to the intervention group, compared with those randomized to the control group, were less likely to have invasive diagnostic testing (5.9% vs 12.3%; odds ratio [OR], 0.45 [95% CI, 0.25-0.80]) and more likely to forgo testing altogether (25.6% vs 20.4%; OR, 3.30 [95% CI, 1.43-7.64], reference group screening followed by invasive testing). Women randomized to the intervention group also had higher knowledge scores (9.4 vs 8.6 on a 15-point scale; mean group difference, 0.82 [95% CI, 0.34-1.31]) and were more likely to correctly estimate the amniocentesis-related miscarriage risk (73.8% vs 59.0%; OR, 1.95 [95% CI, 1.39-2.75]) and their estimated age-adjusted chance of carrying a fetus

  10. Prenatal versus Postnatal Screening for Familial Retinoblastoma.

    Science.gov (United States)

    Soliman, Sameh E; Dimaras, Helen; Khetan, Vikas; Gardiner, Jane A; Chan, Helen S L; Héon, Elise; Gallie, Brenda L

    2016-12-01

    To compare overall outcomes of conventional postnatal screening of familial retinoblastoma and prenatal RB1 mutation identification followed by planned early-term delivery. Retrospective, observational study. Twenty children with familial retinoblastoma born between 1996 and 2014 and examined within 1 week of birth. Cohort 1 included spontaneously delivered neonates examined within 1 week of birth and confirmed postnatal to carry their family's RB1 mutant allele. Cohort 2 included infants identified by amniocentesis to carry their family's RB1 mutant allele, and therefore scheduled for early-term delivery (36-38 weeks' gestation). Treatment for retinoblastoma was performed at the Hospital for Sick Children, Toronto, Canada. Age at first tumor in each eye, eye stage, treatments given, ocular salvage, treatment success (defined as avoidance of enucleation, external-beam irradiation, or both), visual outcome, number of anesthetics, pregnancy or delivery complications, and estimated treatment burden. Vision-threatening tumors were present at birth in 4 of 8 infants in cohort 1 and in 3 of 12 infants in cohort 2. Eventually, all infants demonstrated tumors in both eyes. At the first treatment, 1 of 8 infants in cohort 1 had eyes in stage cT1a/cT1a or cT1a/cT0 (smallest and least vision-threatening tumors), compared with 8 of 12 infants in cohort 2 (P = 0.02). Null RB1 germline alleles induced earlier tumors than low-penetrance alleles (P = 0.03). Treatment success was achieved in 3 of 8 children in cohort 1 compared with 11 of 12 children in cohort 2 (P = 0.002). Acceptable vision (better than 0.2 decimal) was achieved for 8 of 16 eyes in cohort 1 compared with 21 of 24 eyes in cohort 2 (P = 0.014). Useful vision (better than 0.1, legal blindness) was achieved for 8 of 9 children in cohort 1 compared with 12 of 12 children in cohort 2. There were no complications related to early-term delivery. Median follow-up was 5.6 years, cohort 1 and 5.8 years, cohort 2. When

  11. Periodontal Disease and Adverse Pregnancy Outcomes: A Prospective Study in a Low-Risk Population.

    Science.gov (United States)

    Soucy-Giguère, Laurence; Tétu, Amélie; Gauthier, Simon; Morand, Marianne; Chandad, Fatiha; Giguère, Yves; Bujold, Emmanuel

    2016-04-01

    Periodontal disease has been associated with systemic inflammation and adverse pregnancy outcomes, including preeclampsia and preterm birth. To examine the relationship between periodontal disease in early pregnancy and the risk of amniotic inflammation, preterm birth, and preeclampsia. We performed a prospective cohort study of women undergoing amniocentesis for fetal karyotype between 15 and 24 weeks' gestation. Participants underwent periodontal examination by a certified dentist, and a sample of amniotic fluid was collected. Periodontal disease was defined as the presence of one or more sites with probing depths ≥ 4 mm and ≥ 10% bleeding on probing. Matrix metalloproteinase-8 and interleukin-6 concentrations in the amniotic fluid were measured. Medical charts were reviewed for perinatal outcomes. Univariate and multivariate logistic regression analyses were used to assess the association between periodontal disease and adverse pregnancy outcomes. We recruited 273 women at a median gestational age of 16 weeks (range 15 to 24), and 258 (95%) agreed to undergo periodontal examination. Periodontal disease was observed in 117 of the participants (45%). We observed no significant association between periodontal disease and preterm birth (relative risk [RR] 2.27; 95% CI 0.74 to 6.96) or spontaneous preterm birth (RR 0.90; 95% CI 0.20 to 4.11). However, women with periodontal disease were more likely to develop preeclampsia, and this association remained significant after adjustment for potential confounders (adjusted RR 5.89; 95% CI 1.24 to 28.05). Periodontal disease was not associated with significant differences in the intra-amniotic concentration of matrix metalloproteinase-8 (13.0 ± 46.6 vs 5.7 ± 10.4 ng/mL, P = 0.098) or interleukin-6 (3.3 ± 20.3 vs 1.0 ± 1.6 ng/mL, P = 0.23), although a non-significant trend was observed. Periodontal disease is associated with preeclampsia but not with spontaneous preterm birth. The current study cannot exclude an

  12. The Study of Congenital Anomalies Resulting in Legal Termination of Pregnancy in Iran

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    Saeid Dastgiri

    2015-08-01

    Full Text Available Background and objectives : Safe pregnancy is among the goals and missions of reproductive health which has an important part in Millennium Development Goals. Unfortunately, bad conditions in reproductive health are the major cause of women mortality in fertility age all over the world especially in developing countries. Congenital anomalies are pregnancy problems that in case of early diagnosis, the anomaly will be done according to list 51. The aim of this study was to determine families’ demographic situations, frequency of congenital anomalies types and the factors of legally termination of pregnancy to suggest solutions in order to reduce anomalies and promote reproductive health. Material and Methods : This is a case-control study carried out for 1 year period from 2010 to 2011 in which 603 pregnant women that were diagnosed/recommended to the Legal Medicine Organization for the termination of pregnancy as having a fetus with some types of birth defect(s. Among them, 201 were categorized as case group (receiving termination permission because their pregnancy was before week 20 and 402 of them were categorized as control group 1 (not receiving termination permission because their pregnancy was after week 20 and 200 women as control group 2 who referred to Alzahra hospital to give childbirth. A questionnaire containing demographic and geographical information was made for all the women in those three groups. Results : The average age of mothers in this study was 27.2 years (15-47 years old. In 100 % of women, at least 1 ultrasound examination was performed and genetic and Amniocentesis tests were conducted in 2.1 % and 3.5 % respectively in order to diagnose anomaly. In total, 33 % of pregnant women with congenital anomalies received pregnancy termination permission. The majority of congenital anomalies were neural tube defects 16.9 %, hydrocephaly 8.6 %, limb deformation 7.7 % and Down syndrome 6.4 %. Mother’s age, the history of

  13. Delivery outcomes of term pregnancy complicated by idiopathic polyhydramnios.

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    Zeino, S; Carbillon, L; Pharisien, I; Tigaizin, A; Benchimol, M; Murtada, R; Boujenah, J

    2017-04-01

    Polyhydramnios is associated with an increased risk of cesarean section. The aetiology of polyhydramnios and the characteristics of the labour may be confounding factors. The objective was to study the characteristics and mode of delivery in case of pregnancy complicated with idiopathic polyhydramnios. This retrospective matched and controlled study included all pregnant women with idiopathic polyhydramnios (amniotic index>25cm or single deepest pocket>8cm) diagnosed at the 2nd or 3rd trimester and persistent at term delivery (>37weeks of pregnancy) in our institution. We excluded pregnancies in which the polyhydramnios could be explained by infection, gestational diabetes, congenital malformation, abnormal karyotype, placental anomalies, alloimmunization as well as pregnancies in which an amniocentesis for the purpose of diagnosis had not been performed. Data were gathered from a tertiary care university hospital register from 1998-2015. Cases of polyhydramnios were matched with the following two women who presented for labour management with spontaneous cephalic presentation, matching for delivery date, maternal age, parity, body mass index. The main outcome measure was the risk of cesarean section. Univariate and multivariate adjusted analysis were performed. We identified 108 women with idiopathic polyhydramnios and compared them with 216 matched women. Among them, 94 and 188 attempted a trial of labour. Maternal age, mean term delivery and birthweight were 31 years, 39+5weeks gestation and 3550 g. We did not observe differences in maternal characteristics, epidural analgesia and rate of abnormal fetal heart tracing. Induced labour and non-vertex presentations (forehead, bregma, face) were more frequent in the polyhydramnios group (respectively 57.9% versus 27.8%, Ppolyhydramnios in the overall population (45.4% versus 8%, Ppolyhydramnios (55.8% versus 39.1%, Ppolyhydramnios was found to be a risk factor for cesarean section (OR 21.02; CI 95% 8

  14. Intrauterine death in singleton pregnancies with trisomy 21, 18, 13 and monosomy X

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    Vanessa Vigna Goulart

    2016-04-01

    Full Text Available Summary A retrospective study from November 2004 to May 2012, conducted at the Obstetric Clinic of Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (HC-FMUSP, which included 92 singleton pregnancies with prenatal diagnosis of trisomy of chromosome 21 (T21, 18, 13 (T13/18 and monosomy X (45X, with diagnosis performed until the 26th week of pregnancy. The aim of the study was to describe the frequency and to investigate predictors of spontaneous fetal death (FD. Diagnosis (T21, n=36; T13/18, n=25; 45X, n=31 was made at a mean gestational age of 18.3±3.7 weeks, through chorionic villus biopsy (n=22,24%, amniocentesis (n=66, 72% and cordocentesis (n=4, 4%. Major malformations were present in 45 (49%; with hydrops in 32 (35% fetuses, more frequently in 45X [n=24/31, 77% vs. T21 (n=6/36, 17% and T13/18 (n=2/25, 8%, p<0.001]. Specialized fetal echocardiography was performed in 60% (55/92. Of these, 60% (33/55 showed changes in heart morphology and/or function. Fetuses with T13/18 had a higher incidence of cardiac anomalies [60 vs. 25% (T21 and 29% (45X, p= 0.01]. FD occurred in 55 (60% gestations, being more frequent in 45X [n=26/31, 84% vs. T21 (n=13/36, 36% and T13/18 (n=16/25, 64%, p<0.01]. Stepwise analysis showed a correlation between hydrops and death in fetuses with T21 (LR= 4.29; 95CI=1.9-8.0, p<0.0001. In fetuses with 45X, the presence of echocardiographic abnormalities was associated with lower risk of FD (LR= 0.56; 95CI=0.27- 0.85, p=0.005. No predictive factors were identified in the T13/18 group. Intra- uterine lethality of aneuploid fetuses is high. Occurrence of hydrops increases risk of FD in pregnancies with T21. In pregnancies with 45X, the occurrence of echocardiographic changes reduces this risk.

  15. Non-invasive prenatal chromosomal aneuploidy testing--clinical experience: 100,000 clinical samples.

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    Ron M McCullough

    Full Text Available OBJECTIVE: As the first laboratory to offer massively parallel sequencing-based noninvasive prenatal testing (NIPT for fetal aneuploidies, Sequenom Laboratories has been able to collect the largest clinical population experience data to date, including >100,000 clinical samples from all 50 U.S. states and 13 other countries. The objective of this study is to give a robust clinical picture of the current laboratory performance of the MaterniT21 PLUS LDT. STUDY DESIGN: The study includes plasma samples collected from patients with high-risk pregnancies in our CLIA-licensed, CAP-accredited laboratory between August 2012 to June 2013. Samples were assessed for trisomies 13, 18, 21 and for the presence of chromosome Y-specific DNA. Sample data and ad hoc outcome information provided by the clinician was compiled and reviewed to determine the characteristics of this patient population, as well as estimate the assay performance in a clinical setting. RESULTS: NIPT patients most commonly undergo testing at an average of 15 weeks, 3 days gestation; and average 35.1 years of age. The average turnaround time is 4.54 business days and an overall 1.3% not reportable rate. The positivity rate for Trisomy 21 was 1.51%, followed by 0.45% and 0.21% rate for Trisomies 18 and 13, respectively. NIPT positivity rates are similar to previous large clinical studies of aneuploidy in women of maternal age ≥ 35 undergoing amniocentesis. In this population 3519 patients had multifetal gestations (3.5% with 2.61% yielding a positive NIPT result. CONCLUSION: NIPT has been commercially offered for just over 2 years and the clinical use by patients and clinicians has increased significantly. The risks associated with invasive testing have been substantially reduced by providing another assessment of aneuploidy status in high-risk patients. The accuracy and NIPT assay positivity rate are as predicted by clinical validations and the test demonstrates improvement in the

  16. Skeletal dysplasias: 38 prenatal cases.

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    Witters, I; Moerman, Ph; Fryns, J P

    2008-01-01

    To assess the prenatal diagnosis of skeletal dysplasias in a single center over a ten-years period. All antenatal detected skeletal dysplasias during the period January 1st 1996 until December 31 2005 (10 years) were retrieved from the genetic database. This database includes all skeletal dysplasias where invasive prenatal diagnosis (chorionic villus sampling/amniocentesis) was performed. The final diagnosis was sought on the basis of fetopathological examination, radiographic studies and if possible molecular testing. A total of 46 antenatal skeletal dysplasias were diagnosed during this period. Follow-up was only available in 38 cases. The other 8 cases involved prenatally presumed lethal skeletal dysplasias that were interrupted in the referral hospital with no further information sent to us. The mean gestational age at diagnosis was 23 weeks (range 12-33 weeks). A diagnosis 30 weeks (29%) and these included all achondroplasias (n = 6), hypophosphatasia (n = 1), Jeune syndrome (n = 1), osteogenesis imperfecta type II (n = l), type I (n = 1) and type III (n = 1). In 27 cases a lethal skeletal dysplasia was present (71%) and these were all correctly predicted. Of the lethal skeletal dysplasias 5 cases were diagnosed only after 24 weeks of pregnancy (19%) and 3 were only referred after 30 weeks (11.5%). A final diagnosis was obtained in 36 cases by fetopathological examination and radiographic studies and molecular testing as deemed necessary. Specific diagnoses included: achondroplasia (n = 6), achondrogenesis (n = 2), osteogenesis imperfecta type II (n = 9), osteogenesis imperfecta type I (n = 1), osteogenesis imperfecta type III (n = 1), thanatophoric dysplasia (n = 7), hypophosphatasia (n = 1), Majewski syndrome (n = 11), Mohr-Majewski syndrome (n = 11), Jeune syndrome (n = 2), Ellis-van Creveld syndrome (n = 2), Roberts syndrome (n = 1), campomelic dysplasia (n = 2). In two cases postnatal investigation revealed no certain diagnosis and these included one

  17. Toxoplasmosis in pregnancy: prevention, screening, and treatment.

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    Paquet, Caroline; Yudin, Mark H

    2013-01-01

    given to starting therapy with spiramycin immediately, without waiting for the repeat test results. (II-2B) 4. Amniocentesis should be offered to identify Toxoplasma gondii in the amniotic fluid by polymerase chain reaction (a) if maternal primary infection is diagnosed, (b) if serologic testing cannot confirm or exclude acute infection, or (c) in the presence of abnormal ultrasound findings (intracranial calcification, microcephaly, hydrocephalus, ascites, hepatosplenomegaly, or severe intrauterine growth restriction). (II-2B) 5. Amniocentesis should not be offered for the identification of Toxoplasma gondii infection at less than 18 weeks' gestation and should be offered no less than 4 weeks after suspected acute maternal infection to lower the occurrence of false-negative results. (II-2D) 6. Toxoplasma gondii infection should be suspected and screening should be offered to pregnant women with ultrasound findings consistent with possible TORCH (toxoplasmosis, rubella, cytomegalovirus, herpes, and other) infection, including but not limited to intracranial calcification, microcephaly, hydrocephalus, ascites, hepatosplenomegaly, or severe intrauterine growth restriction. (II-2B) 7. Each case involving a pregnant woman suspected of having an acute Toxoplasma gondii infection acquired during gestation should be discussed with an expert in the management of toxoplasmosis. (III-B) 8. If maternal infection has been confirmed but the fetus is not yet known to be infected, spiramycin should be offered for fetal prophylaxis (to prevent spread of organisms across the placenta from mother to fetus). (I-B) 9. A combination of pyrimethamine, sulfadiazine, and folinic acid should be offered as treatment for women in whom fetal infection has been confirmed or is highly suspected (usually by a positive amniotic fluid polymerase chain reaction). (I-B) 10. Anti-toxoplasma treatment in immunocompetent pregnant women with previous infection with Toxoplasma gondii should not be necessary

  18. [Application of next-generation DNA sequencing for prenatal testing of fetal chromosomal aneuploidies].

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    Liu, Jing; Wang, Hua; Xi, Hui; Jia, Zhengjun; Zhou, Yuchun; Wu, Lingqian

    2015-08-01

    To explore the value of next-generation sequencing for the non-invasive prenatal testing of fetal chromosomal aneuploidies. Plasma from 4004 women with singleton pregnancy at a gestational age between 12-35(+5) weeks was collected prior to amniocentesis between April 19th 2011 and December 31st 2013. The samples were divided into three groups: (1) High risk for Down syndrome by biochemical screening; (2) Advanced maternal age; (3) Abnormalities by ultrasound or other methods. Plasma DNA extracted from above samples was sequenced at low coverage. Positive results were verified against the karyotypes of the fetuses. For those with negative results, the fetuses were followed up by telephone call for at least six months after birth. Among 4003 samples subjected to non-invasive prenatal diagnosis, 66 (1.65%) had a positive result. In group 1, 22 cases of trisomy 21 (T21), 3 cases of trisomy 18 (T18), 1 case of 13 trisomy (T13), 8 cases of 45,X and 2 cases of other chromosomal abnormality were detected. In group 2, 13 cases of T21, 2 cases of T18, 1 case of T13, 5 cases of 45,X, 2 cases of 47,XXN and 1 case of other chromosomal abnormality were detected. In group 3, 1 case of T21, 1 case of T18, 1 case of T13, and 3 cases of 47,XXN were detected. For 55 samples underwent prenatal diagnosis, 30 cases of T21 and 4 cases of T18 were discovered, which was consistent with the results of non-invasive prenatal diagnosis. For the 13 cases indicated as 45,X, 3 were verified by karyotype analysis, 2 were verified as mosaicism (45,X/46,XN), 8 were 46,XN (false positives). For the 5 cases indicated as 47,XXN, 2 were verified by karyotype analysis, the other 3 were 46,XN (false positives). Karyotypes of 3 cases suspected for other chromosomal abnormalities were all verified as 46,XN (false positive). Until May 1st 2014, telephone follow-up for those with negative screening results only identified a boy with facial abnormalities and developmental delay, which was similar to his older

  19. 「胚胎植入前基因診斷」之憲法問題Constitutional Issues of “Preimplantation Genetic Diagnosis”

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    陳仲妮 Chung-Ni Chen

    2009-12-01

    Full Text Available 為人父母即使不不奢求「望子成龍,望女成鳳」,至少也希望生下健康的下一代,特別是本身是重大遺傳性疾病的患者。這在過去,僅能藉由懷孕後的絨毛膜或羊膜穿刺等技術進行檢測。上世紀末,本世紀初以來,透過「胚胎植入前基因診斷」,讓「天擇」變成有「人擇」的可能。父母在胚植入子宮前,就可預先篩選「健康」的胚胎。從優生學的角度觀察,這無疑是一大福音;然若全面開放這種「扮演上帝」的技術,懷孕將如同在胚超級市場採購,甚至還有「訂製」的可能,更遑論將碰觸「人性尊嚴」、「生命權」及「生育自決權」等橫跨宗教、倫理、醫學及法律等領域,既嚴肅又難解的課題。對此,世界各國目前的態度不一。本文將從憲法的角度探討此議題,並提出個人淺見。 A healthy baby is not a granted wish for parents especially for those suffering from congenital/inherited disorders themselves. In the past, amniocentesis or chorionic villus sampling has been done at 16 wk- or 10 wk-fetus for prenatal diagnosis. From the end of last century to the beginning of this century, timing of performing this type of early diagnosis was pushed further forward by the development of “preimplantation genetic diagnosis (PGD”. This means that parents can choose “healthy” embryos even before they implanted into a uterus. From the view of eugenics, it is a big progress. However, if people abuse this new technology, it may lead to a horrifying situation: everybody can play God’s role – to choose or even order “desired” embryos which maybe healthier, with the right sex, or even with more pleasant or intelligent characters, instead of letting them go through “natural selection” process. Moreover, this human selection process would create unprecedented and very difficult ethical issues of human dignity, fetal rights to

  20. Carrier screening for thalassemia and hemoglobinopathies in Canada.

    Science.gov (United States)

    Langlois, Sylvie; Ford, Jason C; Chitayat, David

    2008-10-01

    investigation should include quantitation of HbA2 and HbF. In addition, if there is microcytosis(mean cellular volume thalassemia or an Hb variant, or of a combination of thalassemia and a hemoglobin variant, they should be referred for genetic counselling. Ideally,this should be prior to conception, or as early as possible in the pregnancy. Additional molecular studies may be required to clarify the carrier status of the parents and thus the risk to the fetus. (II-3A) 5. Prenatal diagnosis should be offered to the pregnant woman/couple at risk for having a fetus affected with a clinically significant thalassemia or hemoglobinopathy. Prenatal diagnosis should be performed with the patient's informed consent. If prenatal diagnosis is declined, testing of the child should be done to allow early diagnosis and referral to a pediatric hematology centre, if indicated. (II-3A) 6. Prenatal diagnosis by DNA analysis can be performed using cells obtained by chorionic villus sampling or amniocentesis. Alternatively for those who decline invasive testing and are at risk of hemoglobin Bart's hydrops fetalis (four-gene deletion alpha-thalassemia), serial detailed fetal ultrasound for assessment of the fetal cardiothoracic ratio (normal thalassemia should prompt immediate investigation of the pregnant patient and her partner to determine their carrier status for alpha-thalassemia. (III-A) VALIDATION: This guideline has been prepared by the Prenatal Diagnosis Committee of the Canadian College of Medical Geneticists (CCMG) and the Genetics Committee of the Society of Obstetricians and Gynaecologists of Canada (SOGC) and approved by the Board of Directors of the CCMG and the Executive and Council of the SOGC.

  1. Infecção Assintomática do Líquido Amniótico Asymptomatic Amniotic Fluid Infection

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    Roxeane Martins Monteiro

    2002-01-01

    Full Text Available Objetivo: determinar a presença de infecção assintomática do líquido amniótico em gestantes, identificar os agentes bacterianos envolvidos na infecção e determinar o perfil de suscetibilidade a antimicrobianos in vitro. Métodos: foram obtidas 81 amostras de líquido amniótico, colhidas por amniocentese, em gestantes sem sinais de trabalho de parto e sem suspeita clínica de infecção, atendidas na Maternidade Escola Assis Chateaubriand, entre agosto/97 e janeiro/99. Pesquisou-se a presença de bactérias aeróbias, anaeróbias estritas/facultativas e micoplasmas genitais. As bactérias anaeróbias foram identificadas pelo sistema ATBÒ (Bio-Mérieux e os micoplasmas pelo kit Micoplasmas ISTÒ (Bio-Mérieux. Resultados: entre as amostras obtidas, oito (9,8% apresentaram culturas positivas, sendo que em duas foram identificadas duas espécies bacterianas. Os patógenos isolados foram: Ureaplasma urealyticum (7 casos, 8,6%, Mycoplasma hominis (1 caso, 1,2% e Peptostreptococcus sp (2 casos 2,4%. O padrão de resistência aos antimicrobianos caracterizou-se pela maior resistência dos micoplasmas à eritromicina (37,5% e nenhuma resistência às ciclinas. Conclusões: o percentual de infecções assintomáticas foi muito elevado, havendo necessidade de serem realizadas novas pesquisas para avaliar as conseqüências da infecção subclínica nas grávidas e em seus conceptos, que envolvam métodos que identifiquem micoplasmas genitais, já que foram as bactérias mais freqüentemente isoladas.Purpose: to determine the presence of asymptomatic amniotic fluid infection in pregnant women, to identify the bacterial agents involved in the infection and to determine the antimicrobial susceptibility in vitro. Methods: amniotic fluid samples were obtained by amniocentesis from 81 pregnant women without labor signs and without suspucion of clinical infection, attended at Maternidade Escola Assis Chateaubriand from August 1997 to January 1999. The

  2. North American Fetal Therapy Network: intervention vs expectant management for stage I twin-twin transfusion syndrome.

    Science.gov (United States)

    Emery, Stephen P; Hasley, Steve K; Catov, Janet M; Miller, Russell S; Moon-Grady, Anita J; Baschat, Ahmet A; Johnson, Anthony; Lim, Foong-Yen; Gagnon, Alain L; O'Shaughnessy, Richard W; Ozcan, Tulin; Luks, Francois I

    2016-09-01

    Stage I twin-twin transfusion syndrome presents a management dilemma. Intervention may lead to procedure-related complications while expectant management risks deterioration. Insufficient data exist to inform decision-making. The aim of this retrospective observational study was to describe the natural history of stage I twin-twin transfusion syndrome, to assess for predictors of disease behavior, and to compare pregnancy outcomes after intervention at stage I vs expectant management. Ten North American Fetal Therapy Network centers submitted well-documented cases of stage I twin-twin transfusion syndrome for analysis. Cases were retrospectively divided into 3 management strategies: those managed expectantly, those who underwent amnioreduction at stage I, and those who underwent laser therapy at stage I. Outcomes were categorized as no survivors, 1 survivor, 2 survivors, or at least 1 survivor to live birth, and good (twin live birth ≥30.0 weeks), mixed (single fetal demise or delivery between 26.0-29.9 weeks), and poor (double fetal demise or delivery <26.0 weeks) pregnancy outcomes. Outcomes were analyzed by initial management strategy. A total of 124 cases of stage I twin-twin transfusion syndrome were studied. In all, 49 (40%) cases were managed expectantly while 30 (24%) underwent amnioreduction and 45 (36%) underwent laser therapy at stage I. The overall fetal mortality rate was 20.2% (50 of 248 fetuses). Of those managed expectantly, 11 patients regressed (22%), 4 remained stage I (8%), 29 advanced in stage (60%), and 5 experienced spontaneous previable preterm birth (10%) during observation. The mean number of days from diagnosis of stage I to a change in status (progression, regression, loss, or delivery) was 11.1 (SD 14.3) days. Intervention by amniocentesis or laser therapy was associated with a lower risk of fetal loss (P = .01) than expectant management. The unadjusted odds of poor outcome were 0.33 (95% confidence interval, 0.09-01.20), for

  3. Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management

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    Magoulas Pilar L

    2012-09-01

    Full Text Available Abstract Systemic primary carnitine deficiency (CDSP is an autosomal recessive disorder of carnitine transportation. The clinical manifestations of CDSP can vary widely with respect to age of onset, organ involvement, and severity of symptoms, but are typically characterized by episodes of hypoketotic hypoglycemia, hepatomegaly, elevated transaminases, and hyperammonemia in infants; skeletal myopathy, elevated creatine kinase (CK, and cardiomyopathy in childhood; or cardiomyopathy, arrhythmias, or fatigability in adulthood. The diagnosis can be suspected on newborn screening, but is established by demonstration of low plasma free carnitine concentration (SLC22A5 gene. The incidence of CDSP varies depending on ethnicity; however the frequency in the United States is estimated to be approximately 1 in 50,000 individuals based on newborn screening data. CDSP is caused by recessive mutations in the SLC22A5 gene. This gene encodes organic cation transporter type 2 (OCTN2 which transport carnitine across cell membranes. Over 100 mutations have been reported in this gene with the c.136C > T (p.P46S mutation being the most frequent mutation identified. CDSP should be differentiated from secondary causes of carnitine deficiency such as various organic acidemias and fatty acid oxidation defects. CDSP is an autosomal recessive condition; therefore the recurrence risk in each pregnancy is 25%. Carrier screening for at-risk individuals and family members should be obtained by performing targeted mutation analysis of the SLC22A5 gene since plasma carnitine analysis is not a sufficient methodology for determining carrier status. Antenatal diagnosis for pregnancies at increased risk of CDSP is possible by molecular genetic testing of extracted DNA from chorionic villus sampling or amniocentesis if both mutations in SLC22A5 gene are known. Once the diagnosis of CDSP is established in an individual, an echocardiogram, electrocardiogram, CK concentration

  4. Comparison of rapid MMP-8 and interleukin-6 point-of-care tests to identify intra-amniotic inflammation/infection and impending preterm delivery in patients with preterm labor and intact membranes.

    Science.gov (United States)

    Chaemsaithong, Piya; Romero, Roberto; Docheva, Nikolina; Chaiyasit, Noppadol; Bhatti, Gaurav; Pacora, Percy; Hassan, Sonia S; Yeo, Lami; Erez, Offer

    2018-01-01

    Among patients presenting with preterm labor and intact membranes, those with intra-amniotic inflammation have adverse obstetrical and neonatal outcomes. The diagnosis of intra-amniotic inflammation can easily be made by detecting an elevated concentration of the cytokine interleukin (IL)-6 or the enzyme neutrophil collagenase, also known as matrix metalloproteinase (MMP)-8. The diagnostic performances of MMP-8 and IL-6 enzyme-linked immunosorbent assay tests are similar. Recently, a rapid test has become available for point-of-care determination of either MMP-8 or IL-6. The objectives of this study were to compare the diagnostic indices and predictive values between the rapid MMP-8 and IL-6 tests for the identification of intra-amniotic inflammation in patients with preterm labor and intact membranes. We performed a retrospective cohort study including 124 women with singleton pregnancies who presented with symptoms of preterm labor and underwent transabdominal amniocentesis for the evaluation of microbial invasion of the amniotic cavity (MIAC). MIAC was defined according to amniotic fluid culture results (aerobic and anaerobic bacteria as well as genital Mycoplasmas). Amniotic fluid white blood cell (WBC) counts were determined using a hemocytometer chamber. An elevated amniotic fluid MMP-8 concentration was assessed using Yoon's MMP-8 Check ® (cutoff: 10 ng/mL). An elevated amniotic fluid IL-6 concentration was scored when there was a positive result for the lateral flow-based immunoassay (cutoff: ≥745 pg/mL and ≥1000 pg/mL). In order to objectively compare rapid MMP-8 and rapid IL-6 tests to identify intra-amniotic inflammation, an amniotic fluid WBC count of ≥50 cells/mm 3 was used to define intra-amniotic inflammation. (1) The rapid tests had the same sensitivity for the detection of intra-amniotic inflammation [85.7% (18/21) for all]; (2) the specificity of the rapid MMP-8 test was higher than that of the rapid IL-6 test (cutoff: 745

  5. Galactosemia

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    Alberto Hernández Saenz

    1985-12-01

    émicos, Kalkar en 1956 descubre el error metabólico por la falta de la enzima uridyl transferasa. Beutler (13 y Baluda en 1966, describen un examen sencillo para detectar esta enfermedad en los recién nacidos.

    En los años setenta, Levy (14 y Shi practican estudios masivos en cinco millones novecientos mil niños, con el beneficio de la prevención del retardo mental y las graves infecciones que padecen estos niños (15 (16, Merril (17 en 1970, por medio de ingeniería genética, usando un bacteriófago Lambafago Transductor, reemplaza al gene anormal por uno sano. Fensom (18 en 1979, practica amniocentesis para diagnóstico prenatal. Gitzelmann en el XVI Simposio de Errores Congénitos del Metabolismo, actualiza la secuencia metabólica de la galactosa. Boskowa (19 en el XVI Congreso Mundial de Pediatría, relaciona el nivel de galactosa-1-fosfato y la evolución clínica.

  6. Diagnóstico pré-natal das genodermatoses Prenatal diagnosis of genodermatoses

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    Maria Carolina de Abreu Sampaio

    2007-08-01

    Full Text Available O diagnóstico pré-natal está indicado para algumas genodermatoses graves, como a epidermólise bolhosa distrófica recessiva e a epidermólise bolhosa juncional. A biópsia de pele fetal foi introduzida em 1980, mas não pode ser realizada antes da 15a semana de gestação. A análise do DNA fetal é método preciso e pode ser realizado mais precocemente na gestação. No entanto, deve-se conhecer a base molecular da genodermatose, e é essencial determinar a mutação e/ou marcadores informativos nas famílias com criança previamente afetada. O DNA fetal pode ser obtido pela biópsia da vilosidade coriônica ou amniocentese. O diagnóstico genético pré-implantação tem surgido como alternativa que dispensa a interrupção da gestação. Essa técnica, que envolve fertilização in vitro e teste genético do embrião. vem sendo realizada para genodermatoses em poucos centros de referência. A ultra-sonografia é exame não invasivo, mas tem uso limitado no diagnóstico pré-natal de genodermatoses. A ultrasonografia tridimensional geralmente estabelece o diagnóstico tardiamente na gestação, e há apenas relatos anedóticos de diagnóstico pré-natal de genodermatoses usando esse método.Prenatal diagnostic testing is indicated for some severe genodermatoses, such as recessive dystrophic epidermolysis bullosa and junctional epidermolysis bullosa. Fetal skin biopsy was introduced in 1980, but it cannot be performed before 15th gestational week. Fetal DNA analysis is a precise method and can be performed earlier in pregnancy. However, the molecular basis of the genodermatoses must be known and it is essential to determine the gene mutations and/or informative markers in the families with a previously affected child. Fetal DNA can be obtained by chorionic villus sampling or amniocentesis. Preimplantation genetic diagnosis is an alternative approach obviating the need for termination of pregnancy. It involves in vitro fertilization and

  7. Familial adenomatous polyposis

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    Rozen Paul

    2009-10-01

    suggestive family history, clinical findings, and large bowel endoscopy or full colonoscopy. Whenever possible, the clinical diagnosis should be confirmed by genetic testing. When the APC mutation in the family has been identified, genetic testing of all first-degree relatives should be performed. Presymptomatic and prenatal (amniocentesis and chorionic villous sampling, and even preimplantation genetic testing is possible. Referral to a geneticist or genetic counselor is mandatory. Differential diagnoses include other disorders causing multiple polyps (such as Peutz-Jeghers syndrome, familial juvenile polyps or hyperplastic polyposis, hereditary mixed polyposis syndromes, and Lynch syndrome. Cancer prevention and maintaining a good quality of life are the main goals of management and regular and systematic follow-up and supportive care should be offered to all patients. By the late teens or early twenties, colorectal cancer prophylactic surgery is advocated. The recommended alternatives are total proctocolectomy and ileoanal pouch or ileorectal anastomosis for AFAP. Duodenal cancer and desmoids are the two main causes of mortality after total colectomy, they need to be identified early and treated. Upper endoscopy is necessary for surveillance to reduce the risk of ampullary and duodenal cancer. Patients with progressive tumors and unresectable disease may respond or stabilize with a combination of cytotoxic chemotherapy and surgery (when possible to perform. Adjunctive therapy with celecoxib has been approved by the US Food and Drug Administration and the European Medicines Agency in patients with FAP. Individuals with FAP carry a 100% risk of CRC; however, this risk is reduced significantly when patients enter a screening-treatment program.

  8. Correlação entre o achado ultra-sonográfico isolado de cisto de cordão umbilical e anomalias fetais Correlation between isolated sonographic finding of umbilical cord cyst and fetal anomalies

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    Sérgio Kobayashi

    2008-06-01

    developed with consecutive, pregnant women with single living fetuses presenting with umbilical cord cyst as an isolated finding, over a 10-year period (1996-2006. Ultrasound studies were performed in all cases for screening of fetal anomalies after the diagnosis of umbilical cord cyst. Neonates and umbilical cords were evaluated after delivery for the presence of abnormalities. RESULTS: Nine cases presenting umbilical cord cyst as a sole finding with no other sonographic marker for fetal abnormality were evaluated. Two cases were detected in the first pregnancy trimester and seven cases in the second and third trimesters. Fetal cytogenetic study was done by means of amniocentesis in two cases. No newborn presented with structural anomalies or aneuploidy. CONCLUSION: Isolated sonographic finding of umbilical cord cyst did not imply increased risk for fetal structural anomalies or aneuploidies.

  9. [Non invasive prenatal test (NIPT) in maternal blood by parallel massive sequencing. Initial experience in Mexican women and literature review].

    Science.gov (United States)

    Hernández-Gómez, Mariana; Ramirez-Arroyo, Eva; Meléndez-Hernández, Ricardo; Garduño-Zaraza, Luz Maria; Mayén-Molina, Dora Gilda

    2015-05-01

    women or multiple pregnancies. In our series, the most frequent indication was advanced maternal age. The weight of the patients is important because it is a factor related to the percentage of fetal DNA. In cases with high risk for X monosomy in which the cytogenetic result was 46, XX, it is important to consider as much causes as possible, such as uniparental disomy (UPD), mosaicism and maternal contamination. Only in a case with W-A story the test was conducted specifically for fetal sex determination and confirmed by amniocentesis. In the cases of high-risk results, confirmation by an invasive method, before an obstetric decision, is indispensable. Further studies are still needed to continue the validation of this test by different molecular techniques and in other groups of patients.

  10. Toward a reconceptualization of "choice": challenges by women at the margins.

    Science.gov (United States)

    Luthra, R

    1993-01-01

    It has been suggested that recent first world and third world feminist movements have gained impetus from a shared emphasis on "body politics" (abortion, rape, and domestic violence). It has been made clear by other writers, however, that first and third world women (including women of color in the first world) have very different conceptions of which policies and practices should be pursued to change their reproduction experiences (because the overriding experiences of their entire lives are so very different). Likewise, the concept of "the right to choose" has been challenged on the grounds that it ignores the external conditions (such as economics) which, in fact, dictate "choice." Eugenics also influences which "choices" are promoted among populations considered "undesirable." The dilemmas associated with reproductive choices are further highlighted by debate about the use of amniocentesis in India for sex determination and female feticide. At the center of this debate is whether calling for a ban on this practice would support or violate a woman's choice. The rhetoric of choice arose in the first place because women who wanted to end a pregnancy had "no choice" but to seek illegal abortions. However, working class women and Black women in the US object to the narrowness in the abortion rights agenda dictated by the use of this term. To assert women's "choice" absolves all others of the responsibility for a pregnancy. The "choice" concept is also vulnerable to political manipulation. "Choice" also evades ethical problems such as sex selection. Disabled feminists have also pointed out that it is as important to create conditions which include "the choice to have a disabled child" as it is to choose not to be a mother. Can feminists oppose the selective abortion of female fetuses while leaving the choice to abort a defective or unwanted fetus of either sex up to the mother? Objection to sex determination can be categorized as consequentialist (based on various

  11. Proteomic profiling of amniotic fluid in preterm labor using two-dimensional liquid separation and mass spectrometry.

    Science.gov (United States)

    Bujold, Emmanuel; Romero, Roberto; Kusanovic, Juan Pedro; Erez, Offer; Gotsch, Francesca; Chaiworapongsa, Tinnakorn; Gomez, Ricardo; Espinoza, Jimmy; Vaisbuch, Edi; Mee Kim, Yeon; Edwin, Samuel; Pisano, Mike; Allen, Beth; Podust, Vladimir N; Dalmasso, Enrique A; Rutherford, Jennifer; Rogers, Wade; Moser, Allan; Yoon, Bo Hyun; Barder, Tim

    2008-10-01

    Simultaneous analysis of the protein composition of biological fluids is now possible. Such an approach can be used to identify biological markers of disease and to understand the pathophysiology of disorders that have eluded classification, diagnosis, and treatment. The purpose of this study was to analyze the differences in protein composition of the amniotic fluid of patients in preterm labor. Amniotic fluid was obtained by amniocentesis from three groups of women with preterm labor and intact membranes: (1) women without intra-amniotic infection/inflammation (IAI) who delivered at term, (2) women without IAI who delivered a preterm neonate, and (3) women with IAI. Intra-amniotic infection was defined as a positive amniotic fluid culture for microorganisms. Intra-amniotic inflammation was defined as an elevated amniotic fluid interleukin (IL)-6 (> or =2.3 ng/mL). Two-dimensional (2D) chromatography was used for analysis. The first dimension separated proteins by isoelectric point, while the second, by the degree of hydrophobicity. 2D protein maps were generated using different experimental conditions (reducing agents as well as protein concentration). The maps were used to discern subsets of isoelectric point/hydrophobicity containing differentially expressed proteins. Protein identification of differentially expressed fractions was conducted with mass spectrometry. Enzyme-linked immunosorbent assays (ELISA) as well as surface-enhanced laser desorption/ionization time-of-flight mass spectrometry (SELDI-TOF MS)-based on-chip antibody capture immunoassays were also used for confirmation of a specific protein that was differentially expressed. (1) Amniotic fluid protein composition can be analyzed using a combination of 2D liquid chromatography and mass spectrometry for the identification of proteins differentially expressed in patients in preterm labor. (2) While total insulin-like growth factor-binding protein-1 (IGFBP-1) concentration did not change, IGFBP-1

  12. Interventions et techniques de diagnostic prénatal visant l'obtention d'un prélèvement fœtal à des fins diagnostiques : Risques et avantages pour la mère et le fœtus.

    Science.gov (United States)

    Wilson, R Douglas; Gagnon, Alain; Audibert, François; Campagnolo, Carla; Carroll, June

    2016-12-01

    érature publiée a été récupérée par l'intermédiaire de recherches menées dans Medline, PubMed et The Cochrane Library jusqu'en juin 2014 au moyen d'un vocabulaire contrôlé (« prenatal diagnosis », « amniocentesis », « chorionic villi sampling », « cordocentesis ») et de mots clés (« prenatal screening », « prenatal genetic counselling », « post-procedural pregnancy loss rate ») appropriés. Les résultats ont été restreints aux analyses systématiques, aux études observationnelles et aux essais comparatifs randomisés / essais cliniques comparatifs publiés en anglais entre janvier 1985 et juin 2014. Les recherches ont été mises à jour de façon régulière et intégrées à la directive clinique jusqu'en juin 2014. 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'essais cliniques et auprès de sociétés de spécialité médicale nationales et internationales. La qualité des résultats a été évaluée au moyen des critères décrits dans le rapport du Groupe d'étude canadien sur les soins de santé préventifs (Tableau 1). AVANTAGES, DéSAVANTAGES ET COûTS: Consentement éclairé de la patiente, transfert des connaissances, évaluation du risque génétique prénatal, soulagement de l'anxiété, création d'anxiété, défense des droits, compréhension du dépistage fœtal, limites du dépistage fœtal, choix en matière de prise en charge de la grossesse, complication de la grossesse ou fausse couche, soins opportuns et améliorés pour l'accouchement d'un enfant présentant une morbidité reconnue. RECOMMANDATIONS. Copyright © 2016. Published by Elsevier Inc.

  13. Avaliação da maturidade pulmonar fetal em gestações de alto risco Prenatal diagnosis of fetal lung maturity in high-risk pregnancies

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    Wladimir Taborda

    1998-07-01

    in 121 consecutive high-risk gestations at the São Paulo Hospital from January 1990 to January 1995. Delivery occurred within 3 days of fetal lung maturation testing. This is a prospective study in which the sensitivity, specificity, positive (PPV and negative predictive value (NPV of all the tests were determined. Neonatal respiratory outcome and amniocentesis results were stratified by gestational age for comparison. The distribution of the studied population according to maternal pathology was diabetes mellitus (48, hypertensive disorders (41, Rh isoimmunization (14 and miscellaneous (18. Respiratory distress (RD was present in 33 infants (27.2%, mainly in the diabetic group. There was no false negative using lung profile (all patients and foam stability tests among hypertensive pregnancies (specificity 100%, but there were about 20% to 50% false positives in the other tests. Overall, all four tests had a low PPV: 23% for foam test, 51% for L/S ratio, 63% for PG, 61% for lung profile, and high NPV: 92% for foam test, 88% for L/S ratio, 89% for PG and 100% for lung profile. All tests had less accuracy in the diabetic pregnant women. This study shows that the presence of PG and L/S ratio > 1.7 in the amniotic fluid of high-risk pregnancies confirms maturity with a very low risk to develop RD and that the foam stability test was useful as a first-line test to predict the absence of surfactant-deficient respiratory distress syndrome, particularly in hypertensive pregnant women.

  14. Clinical chorioamnionitis at term VIII: a rapid MMP-8 test for the identification of intra-amniotic inflammation.

    Science.gov (United States)

    Chaiyasit, Noppadol; Romero, Roberto; Chaemsaithong, Piya; Docheva, Nikolina; Bhatti, Gaurav; Kusanovic, Juan Pedro; Dong, Zhong; Yeo, Lami; Pacora, Percy; Hassan, Sonia S; Erez, Offer

    2017-07-26

    Clinical chorioamnionitis is the most common infection/inflammatory process diagnosed in labor and delivery units worldwide. The condition is a syndrome that can be caused by (1) intra-amniotic infection, (2) intra-amniotic inflammation without demonstrable microorganisms (i.e. sterile intra-amniotic inflammation), and (3) maternal systemic inflammation that is not associated with intra-amniotic inflammation. The presence of intra-amniotic inflammation is a risk factor for adverse maternal and neonatal outcomes in a broad range of obstetrical syndromes that includes clinical chorioamnionitis at term. Although the diagnosis of intra-amniotic infection has relied on culture results, such information is not immediately available for patient management. Therefore, the diagnosis of intra-amniotic inflammation could be helpful as a proxy for intra-amniotic infection, while results of microbiologic studies are pending. A rapid test is now available for the diagnosis of intra-amniotic inflammation, based on the determination of neutrophil collagenase or matrix metalloproteinase-8 (MMP-8). The objectives of this study were (1) to evaluate the diagnostic indices of a rapid MMP-8 test for the identification of intra-amniotic inflammation/infection in patients with the diagnosis of clinical chorioamnionitis at term, and (2) to compare the diagnostic performance of a rapid MMP-8 test to that of a conventional enzyme-linked immunosorbent assay (ELISA) interleukin (IL)-6 test for patients with clinical chorioamnionitis at term. A retrospective cohort study was conducted. A transabdominal amniocentesis was performed in patients with clinical chorioamnionitis at term (n=44). Amniotic fluid was analyzed using cultivation techniques (for aerobic and anaerobic bacteria as well as genital Mycoplasmas) and broad-range polymerase chain reaction (PCR) coupled with electrospray ionization mass spectrometry (PCR/ESI-MS). Amniotic fluid IL-6 concentrations were determined by ELISA, and rapid

  15. Prenatal screening for and diagnosis of aneuploidy in twin pregnancies.

    Science.gov (United States)

    Audibert, François; Gagnon, Alain

    2011-07-01

    done by nuchal translucency and maternal age, a pregnancy-specific risk should be calculated in monochorionic twins. In dichorionic twins, a fetus-specific risk should be calculated. (II-3C) 6. During amniocentesis, both amniotic sacs should be sampled in monochorionic twin pregnancies, unless monochorionicity is confirmed before 14 weeks and the fetuses appear concordant for growth and anatomy. (II-2B) 7. Prior to invasive testing or in the context of twins discordant for an abnormality, selective reduction should be discussed and made available to those requesting the procedure after appropriate counselling. (III-B) 8. Monitoring for disseminated intravascular coagulopathy is not indicated in dichorionic twin pregnancies undergoing selective reduction. (II-2B).

  16. Avaliação da maturidade pulmonar fetal pela contagem dos corpos lamelares no líquido amniótico Evaluation of fetal lung maturity by lamellar bodies counting in amniotic fluid

    Directory of Open Access Journals (Sweden)

    Beatriz Maykot Kuerten Gil

    2010-03-01

    Full Text Available OBJETIVO: comparar o teste de contagem de corpos lamelares (CCL no líquido amniótico com o teste da polarização fluorescente (PF como parâmetro diagnóstico para avaliação da maturidade pulmonar fetal. MÉTODO: estudo transversal, analítico e controlado realizado com 60 gestantes atendidas no período de março de 2002 a dezembro de 2007. Foram colhidas amostras de líquido amniótico e realizados os testes de CCL e PF (TDxFLM II, considerados de referência, e comparados à presença ou ausência da Síndrome do Desconforto Respiratório (SDR. Foram estabelecidos valores de corte para maturidade de 30 mil corpos lamelares/µL para o teste da CCL e 55 mg/g de albumina para o PF. Foram avaliadas as características maternas e perinatais, a evolução neonatal e o desempenho dos testes diagnósticos para predição da maturidade pulmonar fetal. Na análise estatística, foram utilizadas medidas descritivas e calculados os valores referentes à sensibilidade, especificidade, valor preditivo positivo e negativo dos testes, considerando-se significativos valores de pPURPOSE: to compare the lamellar body number density (LBND count in amniotic fluid using the fluorescent polarization (FP test as a diagnostic parameter for the assessment of fetal pulmonary maturity. METHOD: this was an analytical, controlled cross-sectional study conducted on 60 pregnant women from March 2002 to December 2007. Amniotic fluid specimens were obtained by amniocentesis or at the time of caesarean section, and submitted to the LBND and FP tests (TDxFLM®, Abbott Laboratories, the latter considered to be a reference test, and compared in terms of the presence or absence of respiratory distress syndrome (RDS. Cut-off values for maturity were established at 30,000 lamellar bodies/µL for the LBND test and 55 mg/g albumin for the FP test. Maternal and perinatal characteristics and neonatal evolution were evaluated, and the performance of the diagnostic tests regarding