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  • 1
    Digitale Medien
    Digitale Medien
    Longitudinal measurement of peak systolic velocity in the fetal middle cerebral artery for monitoring pregnancies complicated by red cell alloimmunisation: a prospective multicentre trial with intention-to-treat (2002)
    Oxford, UK : Blackwell Science Ltd
    BJOG 109 (2002), S. 0 
    Details
    ISSN: 1471-0528
    Quelle: Blackwell Publishing Journal Backfiles 1879-2005
    Thema: Medizin
    Notizen: Objective To evaluate the utilisation measurements of peak systolic velocities in the middle cerebral artery combined with B-mode ultrasound imaging to predict anaemia in an unselected population of pregnancies complicated by alloimmune antibodies known to cause immunological hydrops.Design Prospective study on an intention-to-treat basis.Setting Multicentre study in five large tertiary referral centres.Population One hundred twenty-five fetuses with maternal alloantibodies known to cause immunological hydrops.Methods If peak systolic velocity and B-mode scan were reassuring the pregnancy was monitored at 7–14 days interval. If either method showed signs of anaemia, an umbilical fetal blood sampling was performed. When the gestational age was greater than 35 weeks, labour was induced.Main outcome measure Moderate to severe anaemia at delivery.Results Overall sensitivity to detect moderate to severe anaemia below 35 weeks (haemoglobin level below 0.65 multiples of median) was 88%. Specificity was 87%; positive predictive value was 53% and negative predictive value was 98%. The diagnosis of severe anaemia was missed in one fetus; however, the final outcome was good. The method was not useful after 35 weeks.Conclusions Middle cerebral artery peak systolic velocity is a highly sensitive non-invasive means for determining the degree of anaemia present in red blood cell alloimmunised pregnancies. The widespread use of the Doppler method will minimise fetal complications associated with amniocentesis and fetal blood sampling. Non-invasive measurement of middle cerebral artery peak systolic velocities is more convenient and acceptable to alloimmunised pregnancies and may significantly lower health care costs. A Doppler interval of seven days is recommended.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1111/j.1471-0528.2002.01314.x
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    Digitale Medien
    Digitale Medien
    Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis (1987)
    Springer
    Human genetics 〈Berlin〉 76 (1987), S. 5-10 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary Prenatal dignosis was performed for 47 pregnancies with 1 in 4 risk of cystic fibrosis, including 7 cases analyzed with linked DNA markers, 16 cases analyzed by microvillar intestinal enzyme testing, and 24 cases where both methods of testing were attempted. DNA was obtained by chorionic villus sampling in 10 cases and by amniocentesis in 21 cases, and diagnosis was based on analysis with the tightly linked DNA markers D7S8 and met. DNA analysis using these probes was fully informative in 74.4% of 90 couples with 1 in 4 risk. In 18 cases where both DNA results and microvillar intestinal enzyme data were diagnostic, there was agreement regarding the predicted status of the fetus. No adequate diagnosis was achieved in two cases where both diagnostic tests were attempted. Ourcome is known for 24 pregnancies including 10 where DNA analysis was diagnostic, and no errors in diagnosis were detected. Prenatal diagnosis of cystic fibrosis using DNA markers is highly informative and accurate, but microvillar intestinal enzyme analysis remains a valuable part of a complete diagnostic program.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00283042
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  • 3
    Digitale Medien
    Digitale Medien
    Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction (1992)
    Springer
    Human genetics 〈Berlin〉 89 (1992), S. 109-110 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary We present an improved method for the prenatal diagnosis of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. The polymerase chain reaction (PCR) was used to analyze DNA from an affected index case, the parents, and a cultured chorionic villus sample, for point mutations in the steroid 21-hydroxylase (CYP21) gene. We can predict that the fetus is an unaffected carrier.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00207055
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