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Recommendation for laboratory screening of inborn defects in the first and second trimester of pregnancy


Authors: J. Loucký 2;  D. Springer 1;  I. Šubrt 3
Authors‘ workplace: Česká společnost klinické biochemie (ČSKB ČLS JEP) 1;  Česká společnost nukleární medicíny (ČSNM ČLS JEP) - sekce imunoanalytických metod 2;  Společnost lékařské genetiky ČLS JEP (SLG ČLS JEP) Referenční laboratoř MZ ČR pro klinickou biochemii 3
Published in: Klin. Biochem. Metab., 23 (44), 2015, No. 1, p. 27-30
Category: Recommendation

Doporučení ČSKB ČLS JEP, ČSNM ČLS JEP, SLG ČLS JEP, Referenční laboratoře Ministerstva zdravotnictví ČR pro klinickou biochemii


Sources

1. Driscoll, D. A., Gross, S. Prenatal Screening for Aneuploidy. N. Engl. J. Med. 2009, 360: p. 2556-2562.

2. Loucký, J., Springer, D., Zima, T. Možnosti screeningu Downova syndromu v České republice, Česká gynekologie, 73, 2008, 3, p. 160-162

3. Malone, F., Canick, J. A., Ball, R. H., Nyberg, D. A., Comstock, C. H., Buckowski, R. et al. First- trimester or second-trimester screening, or both, for Down´s syndrome. First and Second-Trimester Evaluation of Risk (FASTER) Research Consortium. N. Engl. J. Med. 2005, 353: p. 2001-11.

4. Society of Obstetricians and Gynaecologists of Canada, Board of the Canadian College of Medical Geneticists. SOGC Clinical Practice Guideline No. 187,February 2007. Prenatal Screening for Fetal Aneuploidy. J. Obstet. Gynaecol. Can. 2007, 29(2): p. 146-161.

5. Spencer, K. Cowans, N. J., Molina, F., Kagan, K. O., Nicolaides, K. H. First-trimester ultrasound and biochemical markers of aneuploidy and the prediction of preterm or early preterm delivery. Obstet. Gynecol. 2008, 31: p. 147-52.

6. Screening for Down’s syndrome: UK NSC Policy recommendations 2011–2014 Model of Best Practice Available online at http://anr-dpn.vjf.cnrs.fr/sites/default/files/NSCModel-of-Best-Practice-DS%20screening2011-2014Sept2011.pdf

7. Nicolaides, K. H. Nuchal translucency and other first-trimestr sonographic markers of chromosomal abnormalities. Am. J. Obstet. Gynecol., 2004, 191: p. 45-67.

8. Wald, N. J., Rodeck, C., Hackshaw, A. K., Walters, J., Chitty, L., Mackinson, A. M. First and second trimester antenatal screening for Down´s syndrome: the results of Serum, Urine and Ultrasound Screening Study (SURUSS). Health Technology Assessment 2003, 7: p. 24-27

9. Benn, P. et al: Position Statement from the Aneuploidy Screening Committee on Behalf of the Board of the International Society for Prenatal Diagnosis, April 2013. Available online at www.ispdhome.org

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