1. Lou S, Petersen OB, Jørgensen FS, Lund ICB, Kjærgaard S, Danish Central Cytogenetic Registry study group, Vogel I. National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in the period 1973-2016 in Denmark. Acta Obstet Gynecol Scand. 2018 Feb;97(2):195-203. doi: 10.1111/aogs.13273.
  2. L Aamann, N Ørntoft, I Vogel, H Grønbæk, H Vilstrup, P Ott, DL Lildballe. Unexplained cholestasis in adults: Diagnostic benefit of genetic examination. Scand J Gastroenterol. 2018 Jan 5:1-7. doi: 10.1080/00365521.2017.1422800.
  3. Bodin CR, Rasmussen MM, Tabor A, Ekelund CK, Wulff CB , Westbom L, Tiblad E, Vogel I, Petersen O. Ultrasound in prenatal diagnostics and its impact on the epidemiology of spina bifida in a national cohort from Denmark with a comparison to Sweden. Accepted Translational and Emerging Clinical Applications of Medical Ultrasound
  4. Rasmussen MB, M Mehrjouy, Bak M, Hansen C, Nazaryan-Petersen L, Kjærgaard S, Vogel I, Jensen PKA, Brøndum-Nielsen K, Tümer Z, Bojesen A, Fagerberg C, Halgren C, Bache I, Tommerup N.. Variable genetic and phenotypic loads in inversion families ascertained by affected or unaffected probands. Accepted Human Molecular Genetics.
  5. Huijsdens-van Amsterdam K, Page-Christiaens L, Flowers N, Bonifacio MD, Battese Ellis KM, Vogel I, Vestergaard EM, Miguelez J, Burlacchini de Carvalho MH, Sistermans EA, Pertile MD.Isochromosome 21q and false-negative NIPT results. Eur J Hum Genet. 2018 Oct;26(10):1490-1496. doi: 10.1038/s41431-018-0188-1. PMID: 29899373
  6. Lund ICB, Becher N, Petersen OB, Hill M, Chitty L, Vogel I. Preferences for prenatal testing among pregnant women, partners and health professionals: A discrete choice experiment in two Danish regions. Dan Med J. 2018 May;65(5). pii: A5486. PMID: 29726320
  7. Lou S, Carstensen K, Petersen OB, Nielsen CP Hvidman L, Lanther MR, Vogel I. Termination of pregnancy following a prenatal diagnosis of Down syndrome: a qualitative study of the decision-making process of pregnant couples. Acta Obstet Gynecol Scand. 2018 Oct;97(10):1228-1236. doi: 10.1111/aogs.13386. PMID: 29791717
  8. Vogel I, Petersen OB. Prenatal screening for atypical chromosomal abnormalities: past or future? Ultrasound Obstet Gynecol. 2018 Apr;51(4):434-435. doi: 10.1002/uog.19030.
  9. Vogel I, Lund N, Rasmussen S, Kopp TI, Petersen OB. Algorithm for sorting chromosomal aberration data. Ultrasound Obstet Gynecol. 2018 Apr;51(4):557-558. doi: 10.1002/uog.18944.
  10. Srebniak MI, Vogel I, van Opstal D, Is carriership of a balanced translocation or inversion an indication for NIPT? Expert Rev Mol Diagn. 2018 Jun;18(6):477-479. doi: 10.1080/14737159.2018.1468255. Epub 2018 Apr 26. PMID: 29676188
  11. Laursen RJ, Alsbjerg B, Vogel I, Gravholt C, Elbaek H, Lildballe D, Humaidan P, Vestergaard EM. Case of successful IVF treatment of a oligospermic male with 46,XX/46,XY chimerism. J Assist Reprod Genet. 2018 Jul;35(7):1325-1328. doi: 10.1007/s10815-018-1194-5. PMID: 29713857
  12. Tørring PM, Larsen MJ, Brasch-Andersen C, Krogh LN, Kibæk M, Laulund L, Illum N, Dunkhase-Heinl U, Wiesener A, Popp B, Marangi G, Hjortshøj TD, Ek J, Vogel I, Becher N, Roos L, Zollino M, Fagerberg CR. Is MED13L-related intellectual disability a recognizable syndrome? Eur J Med Genet. 2018 Jun 27. pii: S1769-7212(18)30144-7. PMID:29959045
  13. I Vogel, A Tabor, C Ekelund, S Lou, J Hyett, OB Petersen. Population-based screening for trisomies and atypical chromosomal abnormalities: Improving efficacy using the combined first trimester screening algorithm as well as individual risk parameters. Fetal Diagn Ther. 2018 Sep 10:1-6. doi: 10.1159/000492152.
  14. Kruckow S, Schelde P, Hatt L, Ravn K, Petersen OB, Uldbjerg N Vogel I, Singh R. Does maternal body mass index affect the quantity of circulating fetal cells available to use for cell based NIPT in high risk pregnancies? Fetal Diagn Ther. 2018 Sep 10:1-4. doi: 10.1159/000492028.
  15. Møller A, Vogel, I, Petersen OB, Lou S. The introduction of ‘moderate risk’ in prenatal screening for Down syndrome: a qualitative study of Danish sonographers’ experiences. Journal of Pregnancy, vol. 2018, Article ID 1646035. 2018.





  1. Stoeve HK, Becher N, Gjørup V, Ramsing M, Vogel I, Vestergaard EM. First Reported Case of Simpson–Golabi–Behmel Syndrome in a Female Fetus Diagnosed Prenatally With Chromosomal Microarray. Clin Case Rep. 2017 Mar 17;5(5):608-612.
  2. Moosa S, Haagerup A, Gregersen PA, Petersen KK, Altmüller J, Thiele H, Nürnberg P, ChoTJ, Kim OH, Nishimura G, Wollnik B#, Vogel I# (joined last authors). Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2. Am J Med Genet A. 2017 Apr;173(4):1102-1108..
  3. Moosa S, Loeys B, Altmüller J, Li Y, Nürnberg P, Wollnik B#, Vogel I# (joined last authors) Bony syndactyly in two fetuses with Smith-Lemli-Opitz syndrome: an under-recognised part of the clinical spectrum? Clin Genet. 2017 Mar 30. doi: 10.1111/cge.12990.
  4. Tanno PL, Breton I, Bidart M, Satre V, Harbuz R, Ray PF, Bosson C, Dieterich K, Jaillard S, Odent S, Poke G, Bedow R, Digilio MC, Novelli A, Bernardini L, Pisanti MA, Mackenroth L, Hackmann K, Vogel I, Christensen R, Fokstuen S, Sloan-Béna F, Amblard F, Devillard F, Vieville G, Apostolou A, Jouk P, Fitsum G, Sartelet H, Coutton C. PBX1 haploinsufficiency leads to syndromic Congenital Anomalies of Kidney and Urinary Tract (CAKUT) in human. J Med Genet. 2017 Mar 7. pii: jmedgenet-2016-104435.
  5. Lou S, Frumer M Schlutter M, Petersen OB, Vogel I, Nielsen CP. Experiences and expectations in early pregnancy: A qualitative study. Health Expect. 2017 May 18. doi: 10.1111/hex.12572
  6. Vogel I, Ott P, Lildballe D, Dutoit SH, Grønbæk H. Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype-phenotype relationship. Clin Case Rep. 2017 May 23;5(7):1098-1102.
  7. Moosa S, Altmüller J, Christensen R, Lyngbye T, Thiele H, Nürnberg P, ChoTJ, Kim OH, Nishimura G, Vogel I#, Wollnik B# (joined last authors). Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome. In early view, Molecular Genetics & Genomic Medicine
  8. Vogel I, Christensen R, Petersen OB, Jon Hyett, Vestergaard EM. Chromosomal microarray as a primary diagnostic genomic tool for pregnancies defined as being at increased risk within a population based combined first trimester screening program. Ultrasound Obstet Gynecol. 2017 Jun 13. doi: 10.1002/uog.17548.
  9. Lou S, Jensen LG, Petersen OB, Vogel I, Hvidman L, Møller A, Nielsen CP. Parental response to severe or lethal prenatal diagnosis: a CERQual review of qualitative studies. Prenat Diagn. 2017 Jun 14. doi: 10.1002/pd.5093.
  10. Singh R, Hatt L, Ravn K, Vogel I, Petersen OB, Uldbjerg N, Schelde P. Fetal Cells in Maternal Blood for Prenatal Diagnosis – A Love Story Rekindled. Biomark Med. 2017 Jun 15. doi: 10.2217/bmm-2017-0055.
  11. Vestergaard EM, Singh R, Schelde P, Hatt L, Ravn K, Christensen R, Petersen OB, Uldbjerg N, Vogel I. On the road to replacing invasive testing with cell-based NIPT: five clinical cases with aneuploidies, microduplication, unbalanced structural rearrangement or mosaicism. Prenatal Diagnosis. 2017 Sep 7. doi: 10.1002/pd.5150
  12. Pierzchlewska MM, Robaczyk MG, and Vogel I. Induction of puberty with human chorionic gonadotropin (hCG) followed by reversal of hypogonadotropic hypogonadism in Kallmann syndrome. Endokrynol Pol. 2017 Oct 12. doi: 10.5603




  1. Wulff CB, Gerds TA, Rode L, Ekelund CK, Petersen OB, Tabor A; Danish Fetal Medicine Study Group. Risk of fetal loss associated with invasive testing following combined first-trimester screening for Down syndrome: a national cohort of 147,987 singleton pregnancies. Ultrasound Obstet Gynecol. 2016 Jan;47(1):38-44. doi: 10.1002/uog.15820. PMID:26581188
  2. Lildballe DL, Vogel I, Lund ICB, Stornes I, Jørgensen MW, Vestergaard EM. Non-invasive prenatal testing offered as part of a first-trimester screening program helps identifying tetrasomi 18p in a high risk pregnancy – a case report. Accepted Prenatal diagnosis.Cortés CR, McInerney-Leo AM, Vogel I, Galeano MCR, Leo PJ, Harris JE, Anderson LK, Brown MA, Ramsing M, Duncan E, Zankl A, Wicking C. Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function. Sci Rep. 2016 Apr 20;6:24083. doi: 10.1038/srep24083
  3. Kristiansen MK, Niemann I, Lindegaard JC, Christiansen M, Joergensen MW, Vogel I, Lildballe DL, Sunde L. Cell-free DNA in pregnancy with choriocarcinoma and co-existent live fetus: A case report. Medicine (Baltimore). 2016 Sep;95(37):e4721.
  4. Loo CKC, Pereira TN, Ramsing M, Vogel I, Petersen OB, Ramm GA. Mechanism of pancreatic and liver malformations in human fetuses with short rib polydactyly syndrome. Birth Defects Res A Clin Mol Teratol. 2016 Mar 11. doi: 10.1002/bdra.23495
  5. Stessman HAF, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen C, Schuurs-Hoeijmakers J, Wassink-Ruiter JK, Stumpel C, Stevens SJC, Vles J, Marcelis C, van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier RA, Gerdts J, Coe BP, Romano C, Alberti A, Grillo L, Scuderi C, Nordenskjöld M, Kvarnung M, Guo H, Xia K, Piton A, Gerard B, Genevieve D, Delobel B, Lehalle D, Perrin L, Prieur F, Thevenon J, Gecz J, Shaw M, Pfundt R, Keren B, Jacquette A, Schenck A, Eichler EE, Kleefstra T, Disruption of POGZ is associated with intellectual disability and autism spectrum disorders. Am J Hum Genet. 2016 Mar 3;98(3):541-52. doi: 10.1016/j.ajhg.2016.02.004
  6. Schlütter JM, Johansen G, Helmig RB, Petersen OB.Two Cases of True Uterine Artery Aneurysms Diagnosed during Pregnancy.Gynecol Obstet Invest. 2016 Sep 13. PMID:27617440
  7. Rasmussen M, Vestergaard EM, Graakjaer J, Petkov Y, Bache I, Fagerberg C, Kibaek M, Svaneby D,Petersen OB, Brasch-Andersen C, Sunde L.17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature. Am J Med Genet A. 2016 Jul 13. doi: 10.1002/ajmg.a.37848
  8. Rasmussen M, Olsen MS, Sunde L, Sperling LS; Danish Fetal Medicine Research Group, Petersen OB. Kidney anomalies diagnosed by prenatal ultrasound screening and associated non-urinary malformations: a nationwide prevalence study.Prenat Diagn. 2016 Sep;36(9):847-53. doi: 10.1002/pd.4871. Epub 2016 Jul 28. PMID:27381563
  9. Pedersen LH, Petersen OB, Nørgaard M, Ekelund C, Pedersen L, Tabor A, Sørensen HT.Linkage between the Danish National Health Service Prescription Database, the Danish Fetal Medicine Database, and other Danish registries as a tool for the study of drug safety in pregnancy. Clin Epidemiol. 2016 May 11;8:91-5. doi: 10.2147/CLEP.S98139. eCollection 2016.
  10. Hellmuth SG, Pedersen LH, Miltoft CB, Petersen OB, Kjaergaard S, Ekelund C, Tabor A. Increased nuchal translucency thickness and the risk of neurodevelopmental disorders. Ultrasound Obstet Gynecol. 2016 May 17. doi: 10.1002/uog.15961. PMID:27183961
  11. Brix L, Ringgaard S, Sandager P, Petersen OB, Sørensen TS, Lundorf E, Stausbøl-Grøn B. Overcoming foetal motion using interactive real-time magnetic resonance imaging.Clin Physiol Funct Imaging. 2016 Mar 22. doi: 10.1111/cpf.12364. PMID:27005484
  12. Loo CK, Pereira TN, Ramsing M, Vogel I, Petersen OB, Ramm GA. Mechanism of pancreatic and liver malformations in human fetuses with short-rib polydactyly syndrome. Birth Defects Res A Clin Mol Teratol. 2016 Jul;106(7):549-62. doi: 10.1002/bdra.23495. Epub 2016 Mar 11. PMID:26970085
  13. Rasmussen M, Olsen MS, Sunde L, Pedersen L, Petersen OB. Positive predictive value and completeness of prenatally assigned International Classification of Disease-10 kidney anomaly diagnoses in the Danish National Patient Registry. Clin Epidemiol. 2016 Jan 18;8:9-14. doi: 10.2147/CLEP.S94394. eCollection 2016. PMID:26855599
  14. Lou S, Palmhøj C, Hvidman L, Petersen OB, Risør MB. Coping with worry while waiting for diagnostic results: a qualitative study of the experiences of pregnant couples following a high-risk prenatal screening result. BMC Pregnancy and Childbirth. 2016; 16:321
  15. Christiansen M, Ekelund CK, Petersen OB, Hyett J, Eastwood N, Ball S, Tabor A, Vogel I. Nuchal translucency distributions for different chromosomal anomalies in a large unselected population cohort. Prenat Diagn. 2016 Jan;36(1):49-55.
  1. Sitras V, Brodszki J, Carlsson Y, Ebbing C, Eggebø T, Hardardottir H, Haugen G, Heinonen S, Iwarsson E, Jacobsson B, Jørgensen FS, Lindgren P, Lingman G, Makikallio K, Petersen O, Stefanovic V, Sundberg K, Tabor A, Tekay A, Tiblad E, Vogel I, Zingenberg H. Acta Obstet Gynecol Scand. 2016 Aug;95(8):845-9.



  1. Lund IC, Christensen R, Petersen OB, Vogel I, Vestergaard EM. Chromosomal microarray in fetuses with increased nuchal translucency. Ultrasound Obstet Gynecol. 2015 Jan;45(1):95-100. doi: 10.1002/uog.14726. PMID: 25393210
  2. Tørring N, Petersen OB, Becher N, Vogel I, Uldbjerg N; First trimester screening for other trisomies than trisomy 21, 18, and 13. Danish Fetal Medicine Study Group; Danish Clinical Genetics Study Group. Prenat Diagn. 2015 Jun;35(6):612-9. doi: 10.1002/pd.4584. PMID: 25708180
  1. Lou S, Nielsen CP, Hvidman L, Petersen OB, Risør MB. ’What do you think? The collaborative practices of choice and care in a Danish obstetric ultrasound unit. Anthropology & Medicine 2015; 10.1080/13648470.2015.1087966
  2. Hill M, Johnson JA, Langlois S, Lee H, Winsor S, Dineley B, Horniachek M, Lalatta F, Ronzoni L, Barrett AN, Advani HV, Choolani M, Rabinowitz R, Pajkrt E, van Schendel RV, Henneman L, Rommers W, Bilardo CM, Rendeiro P, Ribeiro MJ, Rocha R, Lund ICB, Petersen OB, Becher N, Vogel I, Stefánsdottir V, Ingvarsdottir S, Gottfredsdottir H, Morris S, Chitty LC. Preferences for prenatal tests for Down syndrome: an international comparison of the views pregnant women and health professionals" Eur J Hum Genet. 2015 Nov 18. doi: 10.1038/ejhg.2015.249



  1. Petersen OB, Vogel I, Ekelund C, Hyett J, Tabor A; Danish Fetal Medicine Study Group; Danish Clinical Genetics Study Group. Potential diagnostic consequences of applying non-invasive prenatal testing: population-based study from a country with existing first-trimester screening. Ultrasound Obstet Gynecol. 2014 Mar;43(3):265-71
  2. Lildballe D, Vogel I, Petersen OB, Vestergaard EM. Diagnostic performance of qfPCR in high-risk pregnancies after combined first trimester screening. Dan Med J. 2014 Nov;61(11):A4964.
  3. Nørgaard LN, Ekelund C, Fagerberg C, Kjærgaard S, Lundstrøm M, Skibsted L, Sperling L, Sundberg K, Tabor A, Vogel I, Petersen OB. [Array-comparative genomic hybridization is a new and promising method for prenatal chromosomal diagnosis.] Ugeskr Laeger. 2014 Jul 21;176(30). pii: V04130238.
  1. Lou, S. Managing high risk at first trimester prenatal screening. Ph.d.-afhandling, 2014. (ISBN: 987-87-92400-62-8)
  2. Lou S, Mikkelsen L, Hvidman L, Petersen OB, Nielsen CP. Does screening for Down’s syndrome cause anxiety in pregnant women? A systematic review. Acta Obstet Gynecol Scand 2014; DOI: 10.1111/aogs.12482
  3. Lou S, Katja Dahl K, Uldbjerg N. Screening kan give både tryghed og ængstelse – eksempelvis ved screening for Downs syndrom. Ugeskr Læger 2014;176:1122-5; V02140109



  1. Vestergaard EM, Christensen R, Petersen OB, Vogel I. Prenatal diagnosis: array comparative genomic hybridization in fetuses with abnormal sonographic findings. Acta Obstet Gynecol Scand. 2013 Jul;92(7):762-8.

International editorials or evaluations:

En editorial i Acta Obstetricia Gynecologica Scandinavica fra juni 2015 beskriver arbejdet med føtodatabasen (Hyett, J. The Danish Fetal Medicine Database: revealing the fruits of collaborative research. Acta Obstet Gynecol Scand. 2015;94(6):561-2).


Ligeledes blev et arbejde vurderet til at være et mest betydningsfulde inden for området det år (Norton ME. What Is New in Prenatal Aneuploidy Screening? Best Articles From the Past Year. Obstet Gynecol. 2015;126:211-2).




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