Zusammenfassung
Pränatale Diagnostik kann heute mit unterschiedlichen Methoden, nichtinvasiv und invasiv, erfolgen. Gute humangenetische Grundkenntnisse sind erforderlich, um die Rat suchende Schwangere mit ihrem Partner umfassend zu informieren, damit von diesen auf der Grundlage des „informed consent“ alle notwendigen Entscheidungen getroffen werden können.
Abstract
Prenatal diagnosis now can be offered with different methods – noninvasive and invasive. Excellent knowledge of human genetics is needed to provide the pregnant woman and her partner with adequate information so that decisions can be made based on informed consent.
Literatur
Brun JL, Gangbo F, Wen ZQ et al. (2004) Prenatal diagnosis and management of sex chromosome aneuploidy: a report on 98 cases. Prenat Diagn 24: 213–218
El-Toukhy T, Khalaf Y, Braude P (2006) IVF results: optimize not maximize. Am J Obstet Gynecol 194: 322–331
Ferguson-Smith MA, Yates JR (1984) Maternal age specific rates for chromosome aberrations and factors influencing them: report on a collaborative European study on 52965 amniocenteses. Prenat Diagn 4: 5–44
Shaffer LG, Bui TH (2007) Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis. Am J Med Genet 145C: 87–98
Slater HR, Bruno DL, Ren H et al. (2003) Rapid, high-throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA). J Med Genet 40: 907-912
Spencer K, Souter V, Tul N et al. (1999) A screening program for trisomy 21 at 10–14 weeks using fetal nuchal translucency, maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 13: 231–377
Steele MW, Breg WR Jr (1966) Chromosome analysis of human amniotic-fluid cells. Lancet 1: 383–385
Stengel-Rudkowski S, Stene J, Gallano P (1988) Risk estimates in balanced parental reciprocal translocations. Analysis of 1120 pedigrees. Monographie des Annales de Génétique, Paris
Wald NJ, Watt HC, Hackshaw AK (1999) Integrated screening for Down’s syndrome on the basis of tests performed during the first and second trimesters. N Engl J Med 341: 461–467
Murken J (2006) Pränatale Diagnostik. In: Murken J, Grimm T, Holinski-Feder E (Hrsg) Taschenlehrbuch Humangenetik. Thieme, Stuttgart
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Aichinger, E., Zerres, K. & Grimm, T. Grundlagen der pränatalen Diagnostik. medgen 20, 315–325 (2008). https://doi.org/10.1007/s11825-008-0125-8
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DOI: https://doi.org/10.1007/s11825-008-0125-8
Schlüsselwörter
- Pränataldiagnostik
- Präimplantationsdiagnostik
- Polkörperdiagnostik
- Chorionzottenbiopsie
- Amniozentese
- Ersttrimester-Screening