Literatuur: Niet-invasieve prenatale test
Bianchi DW. From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges. Nat Med. 2012;18(7):1041–51.
Dovč-Drnovšek T, Klemenc P, Toplak N, Blejec T, Bricl I, Rožman P. Reliable determination of fetal RhD status by RHD genotyping from maternal plasma. Transfus Med Hemother. 2013;40(1):37–43.
Lo YMD, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CWG, Wainscoat JS. Presence of fetal DNA in maternal plasma and serum. Lancet 1997;350:485–7.
Lo YMD, Tein MS, Lau TK, Haines CJ, Leung TN, Poon PM, et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet. 1998;62:768–75.
Lun FM, Chiu RW, Allen Chan KC, Yeung Leung T, Kin Lau T, Dennis Lo YM. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin Chem. 2008;54:1664–72.
Illanes S, Denbow M, Kailasam C, Finning K, Soothill PW. Early detection of cell-free fetal DNA in maternal plasma. Early Hum Dev. 2007;83:563–6.
Lo YMD, Zhang J, Leung TN, Lau TK, Chang AM, Hjelm NM. Rapid clearance of fetal DNA from maternal plasma. Am J Hum Genet. 1999;64: 218–24.
Smid M, Galbiati S, Vassallo A, et al. No evidence of fetal DNA persistence in maternal plasma after pregnancy. Hum Genet. 2003;112:617–8.
Hui L. Non-invasive prenatal testing for fetal aneuploidy: charting the course from clinical validity to clinical utility. Ultrasound Obstet Gynecol. 2013;41(1):2–6.
American College of Obstetricians and Gynecologists Committe on Genetics. Noninvasive prenatal testing for fetal aneuploidy. Committee Opinion No. 545. Obstet Gynecol. 2012;120:1532–4.
Hulstaert F, Neyt M, Gyselaers W. De niet-invasieve prenatale test (NIPT) voor trisomie 21. Gezondheidseconomische aspecten – Synthese. Health Technology Assessment (HTA). Brussel: Federaal Kenniscentrum voor de Gezondheidszorg (KCE). 2014. KCE Reports 222As. D/2014/10.273/33.
Vahanian SA, Baraa Allaf M, Yeh C, Chavez MR, Kinzler WL, Vintzileos AM. Patient acceptance of non-invasive testing for fetal aneuploidy via cell-free fetal DNA. J Matern Fetal Neonatal Med. 2014;27(1):106–9.
Khorram Khorshid HR, Zargari M, Sadeghi MR, Edallatkhah H, Shahhosseiny MH, Kamali K. Early fetal gender determination using real-time PCR analysis of cell-free fetal DNA during 6th–10th weeks of gestation. Acta Med Iran 2013;51(4):209–14.
Lench N, Barrett A, Fielding S, McKay F, Hill M, Jenkins L, et al. The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made. Prenat Diagn. 2013;33(6):555–62.
Rose NC, Lagrave D, Hafen B, Jackson M. The impact of utilization of early aneuploidy screening on amniocenteses available for training in obstetrics and fetal medicine. Prenat Diagn. 2013;33(3):242–4.
Benn P, Cuckle H, Pergament E. Non-invasive prenatal testing for aneuploidy – current status and future prospects. Ultrasound Obstet Gynecol. 2013;42(1):15–33.
Norton ME, Jacobsson B, Swamy GK, Laurent LC, Ranzini AC, Brar H, et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med. 2015;372(17):1589–97.
Literatuur: Invasieve prenatale testen
Battaglia A, Doccini V, Bernardini L, Novelli A, Loddo S, Capalbo A, et al. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features. Eur J Paediatr Neurol. 2013;17(6):589–99.
Vanakker O, Vilain C, Janssens K, Van der Aa N, Smits G, Bandelier C, et al. Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges. Eur J Med Genet. 2014;57(4):151–6.
Hillman SC, McMullan DJ, Maher ER, Kilby MD. Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data: does increased diagnostic power outweigh the dilemma of rare variants. BJOG. 2013;120(10):1296.
Hillman SC, McMullan DJ, Silcock L, Maher ER, Kilby MD. How does altering the resolution of chromosomal microarray analysis in the prenatal setting affect the rates of pathological and uncertain findings? J Matern Fetal Neonatal Med. 2014;27(7):649–57.
Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, Andersson J, et al. A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature 2010;463(7281):671–5.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Blaumeiser, B., Jacquemyn, Y. Prenatale diagnostiek anno 2015. Bijblijven 32, 4–15 (2016). https://doi.org/10.1007/s12414-016-0114-9
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12414-016-0114-9