{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,9,26]],"date-time":"2022-09-26T10:10:40Z","timestamp":1664187040898},"reference-count":69,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2020,7,5]],"date-time":"2020-07-05T00:00:00Z","timestamp":1593907200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,7,5]],"date-time":"2020-07-05T00:00:00Z","timestamp":1593907200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Childs Nerv Syst"],"published-print":{"date-parts":[[2020,10]]},"DOI":"10.1007\/s00381-020-04776-3","type":"journal-article","created":{"date-parts":[[2020,7,5]],"date-time":"2020-07-05T00:02:42Z","timestamp":1593907362000},"page":"2269-2277","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Ante-natal counseling in phacomatoses"],"prefix":"10.1007","volume":"36","author":[{"given":"Dana","family":"Brabbing-Goldstein","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shay","family":"Ben-Shachar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,7,5]]},"reference":[{"key":"4776_CR1","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1056\/NEJMoa1213507","volume":"368","author":"MD Shirley","year":"2013","unstructured":"Shirley MD, Tang H, Gallione CJ et al (2013) Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. New Eng J Med 368:1971\u20131979","journal-title":"New Eng J Med"},{"key":"4776_CR2","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1542\/peds.2007-3204","volume":"123","author":"VC Williams","year":"2009","unstructured":"Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL (2009) Neurofibromatosis type 1 revisited. Pediatrics 123:124\u2013133","journal-title":"Pediatrics"},{"issue":"9","key":"4776_CR3","doi-asserted-by":"publisher","first-page":"1082","DOI":"10.1038\/gim.2017.215","volume":"20","author":"RA Kallionp\u00e4\u00e4","year":"2018","unstructured":"Kallionp\u00e4\u00e4 RA, Uusitalo E, Lepp\u00e4virta J, P\u00f6yh\u00f6nen M, Peltonen S, Peltonen J (2018) Prevalence of neurofibromatosis type 1 in the Finnish population. Genet Med 20(9):1082\u20131086. \n                  https:\/\/doi.org\/10.1038\/gim.2017.215","journal-title":"Genet Med"},{"issue":"12","key":"4776_CR4","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1017\/S0012162206002131","volume":"48","author":"SL Hyman","year":"2006","unstructured":"Hyman SL, Arthur Shores E, North KN (2006) Arming disabilities in children with neurofibromatosis type 1: subtypes, cognitive profile, and attention-deficit-hyperactivity disorder. Dev Med Child Neurol 48(12):973\u2013977","journal-title":"Dev Med Child Neurol"},{"key":"4776_CR5","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1002\/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N","volume":"15","author":"LM Messiaen","year":"2000","unstructured":"Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD (2000) Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat 15:541\u2013555","journal-title":"Hum Mutat"},{"key":"4776_CR6","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1002\/gcc.20289","volume":"45","author":"K Wimmer","year":"2006","unstructured":"Wimmer K, Yao S, Claes K, Kehrer-Sawatzki H, Tinschert S, De Raedt T, Legius E, Callens T, Beiglb\u00f6ck H, Maertens O, Messiaen L (2006) Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients. Genes Chromosom Cancer 45:265\u2013276","journal-title":"Genes Chromosom Cancer"},{"issue":"1","key":"4776_CR7","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1093\/oxfordjournals.aje.a010118","volume":"151","author":"SA Rasmussen","year":"2000","unstructured":"Rasmussen SA, Friedman JM (2000) NF1 gene and neurofibromatosis 1. Am J Epidemiol 151(1):33\u201340","journal-title":"Am J Epidemiol"},{"issue":"5","key":"4776_CR8","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1002\/path.2494","volume":"217","author":"I Bottillo","year":"2009","unstructured":"Bottillo I, Ahlquist T, Brekke H, Danielsen SA, van den Berg E, Mertens F, Lothe RA, Dallapiccola B (2009) Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumors. J Pathol 217(5):693\u2013701","journal-title":"J Pathol"},{"issue":"8","key":"4776_CR9","doi-asserted-by":"crossref","first-page":"E103","DOI":"10.1002\/humu.20793","volume":"29","author":"M Upadhyaya","year":"2008","unstructured":"Upadhyaya M, Spurlock G, Monem B, Thomas N, Friedrich RE, Kluwe L, Mautner V (2008) Germline and somatic NF1 gene mutations in plexiform neurofibromas. Hum Mutat 29(8):E103\u2013E111","journal-title":"Hum Mutat"},{"issue":"4","key":"4776_CR10","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1016\/j.spen.2015.10.007","volume":"22","author":"B Shofty","year":"2015","unstructured":"Shofty B, Constantini S, Ben-Shachar S (2015) Advances in molecular diagnosis of neurofibromatosis type 1. Semin Pediatr Neurol 22(4):234\u2013239. \n                  https:\/\/doi.org\/10.1016\/j.spen.2015.10.007","journal-title":"Semin Pediatr Neurol"},{"issue":"1","key":"4776_CR11","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1002\/ajmg.1320180121","volume":"18","author":"VM Riccardi","year":"1984","unstructured":"Riccardi VM, Dobson CE 2nd, Chakraborty R, Bontke C (1984) The pathophysiology of neurofibromatosis: IX. Paternal age as a factor in the origin of new mutations. Am J Med Genet 18(1):169\u2013176","journal-title":"Am J Med Genet"},{"issue":"4","key":"4776_CR12","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1002\/mgg3.222","volume":"4","author":"T Dubov","year":"2016","unstructured":"Dubov T, Toledano-Alhadef H, Bokstein F, Constantini S, Ben-Shachar S (2016) The effect of parental age on the presence of de novo mutations - lessons from neurofibromatosis type I. Mol Genet Genomic Med 4(4):480\u2013486","journal-title":"Mol Genet Genomic Med"},{"issue":"21","key":"4776_CR13","doi-asserted-by":"crossref","first-page":"1403","DOI":"10.1056\/NEJM199411243312102","volume":"331","author":"C L\u00e1zaro","year":"1994","unstructured":"L\u00e1zaro C, Ravella A, Gaona A, Volpini V, Estivill X (1994) Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father. N Engl J Med 331(21):1403\u20131407","journal-title":"N Engl J Med"},{"key":"4776_CR14","doi-asserted-by":"crossref","unstructured":"Tinschert S, Naumann I, Stegmann E, Buske A, Kaufmann D, Thiel G, Jenne DE (2000) Segmental neurofibromatosis is caused by somatic mutation of the Neurofibromatosis Type 1 (NF1) gene. Eur J Hum Genet:45\u201349","DOI":"10.1038\/sj.ejhg.5200493"},{"issue":"3","key":"4776_CR15","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1086\/423624","volume":"75","author":"H Kehrer-Sawatzki","year":"2004","unstructured":"Kehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, Krammer U, Peyrl A, Jenne DE, Hansmann I, Mautner VF (2004) High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 Gene. Am J Hum Genet 75(3):410\u2013423","journal-title":"Am J Hum Genet"},{"key":"4776_CR16","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1002\/ajmg.a.33139","volume":"152a","author":"DG Evans","year":"2010","unstructured":"Evans DG, Howard E, Giblin C et al (2010) Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A 152a:327\u2013332","journal-title":"Am J Med Genet A"},{"key":"4776_CR17","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1002\/ajmg.1320520411","volume":"52","author":"DM Parry","year":"1994","unstructured":"Parry DM, Eldridge R, Kaiser-Kupfer MI (1994) Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet 52:450\u2013461","journal-title":"Am J Med Genet"},{"key":"4776_CR18","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1097\/00129492-200501000-00016","volume":"26","author":"DG Evans","year":"2005","unstructured":"Evans DG, Moran A, King A et al (2005) Incidence of vestibular schwannoma and neurofibromatosis 2 in the North West of England over a 10-year period: higher incidence than previously thought. Otol Neurotol 26:93\u201397","journal-title":"Otol Neurotol"},{"issue":"1","key":"4776_CR19","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1212\/WNL.0000000000003418","volume":"88","author":"MJ Smith","year":"2017","unstructured":"Smith MJ, Bowers NL, Bulman M, Gokhale C, Wallace AJ, King AT, Loyd SKL, Rutherfold SA, Hammerbeck-Ward CL, Freeman SR, Evans DG (2017) Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis. Neurology 88(1):87\u201392","journal-title":"Neurology"},{"key":"4776_CR20","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1136\/jmg.2006.047753","volume":"44","author":"DG Evans","year":"2007","unstructured":"Evans DG, Ramsden RT, Shenton A et al (2007) Mosaicism in neurofibromatosis type 2: an update of risk based on uni\/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification. J Med Genet 44:424\u2013428","journal-title":"J Med Genet"},{"key":"4776_CR21","first-page":"727","volume":"63","author":"DG Evans","year":"1998","unstructured":"Evans DG, Wallace AJ, Wu CL et al (1998) Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis. Am J Hum Genet 63:727\u2013736","journal-title":"Am J Hum Genet"},{"key":"4776_CR22","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1136\/jmg.40.6.459","volume":"40","author":"A Moyhuddin","year":"2003","unstructured":"Moyhuddin A, Baser ME, Watson C et al (2003) Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring. J Med Genet 40:459\u2013463","journal-title":"J Med Genet"},{"issue":"11","key":"4776_CR23","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1212\/WNL.56.11.1433","volume":"56","author":"M Ruggieri","year":"2001","unstructured":"Ruggieri M, Huson SM (2001) The clinical and diagnostic implications mosaicism in the neurofibromatoses. Neurology 56(11):1433\u20131443","journal-title":"Neurology"},{"issue":"7","key":"4776_CR24","doi-asserted-by":"publisher","first-page":"917","DOI":"10.1093\/neuonc\/noy009","volume":"20","author":"C Louvrier","year":"2018","unstructured":"Louvrier C, Pasmant E, Briand-Suleau A, Cohen J, Nitschk\u00e9 P, Nectoux J, Orhant L, Zordan C, Goizet C, Goutagny S, Lallemand D, Vidaud M, Vidaud D, Kalamarides M, Parfait B (2018) Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis. Neuro-Oncology 20(7):917\u2013929. \n                  https:\/\/doi.org\/10.1093\/neuonc\/noy009","journal-title":"Neuro-Oncology"},{"key":"4776_CR25","unstructured":"Northrup H, Koenig MK, Pearson DA, Au KS (2020) Tuberous sclerosis complex. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews\u00ae 1999 Jul 13 [updated 2020 Apr 16]. [Internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132020. Available at \n                  https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1220\/\n                  \n                . Accessed 1 may 2020"},{"issue":"6","key":"4776_CR26","doi-asserted-by":"publisher","first-page":"1027","DOI":"10.1016\/j.ejpn.2018.08.005","volume":"22","author":"P Dragoumi","year":"2018","unstructured":"Dragoumi P, O'Callaghan F, Zafeiriou DI (2018) Diagnosis of tuberous sclerosis complex in the fetus. Eur J Paediatr Neurol 22(6):1027\u20131034. \n                  https:\/\/doi.org\/10.1016\/j.ejpn.2018.08.005","journal-title":"Eur J Paediatr Neurol"},{"key":"4776_CR27","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1111\/j.1749-6632.1991.tb37754.x","volume":"615","author":"JP Osborne","year":"1991","unstructured":"Osborne JP, Fryer A, Webb D (1991) Epidemiology of tuberous sclerosis. Ann N Y Acad Sci 615:125\u2013127","journal-title":"Ann N Y Acad Sci"},{"key":"4776_CR28","unstructured":"Northrup H, Krueger DA (2013) International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Available online \n                  https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1201\/\n                  \n                . Accessed 13 Apr 2020."},{"issue":"11","key":"4776_CR29","doi-asserted-by":"publisher","first-page":"e1005637","DOI":"10.1371\/journal.pgen.1005637","volume":"11","author":"ME Tyburczy","year":"2015","unstructured":"Tyburczy ME, Dies KA, Glass J et al (2015) Mosaic and intronic mutations in TSC1\/TSC2 explain the majority of TSC patients with no mutation identified by conventional testing. PLoS Genet 11(11):e1005637. Published 2015 Nov 5. \n                  https:\/\/doi.org\/10.1371\/journal.pgen.1005637","journal-title":"PLoS Genet"},{"key":"4776_CR30","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1002\/uog.6367","volume":"34","author":"J Saada","year":"2009","unstructured":"Saada J, Hadj Rabia S, Fermont L, Le Bidois J, Bernades-Stein L, Martinovic J, Sonigo P, Dumez Y, Bonnet D, Benachi A (2009) Prenatal diagnosis of cardiac rhabdomyomas: incidence of associated cerebral lesions of tuberous sclerosis complex. Ultrasound Obstet Gynecol 34:155\u2013159. \n                  https:\/\/doi.org\/10.1002\/uog.6367","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"2","key":"4776_CR31","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1097\/00001703-200304000-00011","volume":"15","author":"C Papp","year":"2003","unstructured":"Papp C, Papp Z (2003) Chorionic villus sampling and amniocentesis: what are the risks in current practice? Curr Opin Obstet Gynecol 15(2):159\u2013165","journal-title":"Curr Opin Obstet Gynecol"},{"key":"4776_CR32","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1097\/AOG.0b013e318162eb53","volume":"111","author":"AO Odibo","year":"2008","unstructured":"Odibo AO, Gray DL, Dicke JM et al (2008) Revisiting the fetal loss rate after second trimester genetic amniocentesis: a single center\u2019s 16 year experience. Obstet Gynecol 111:589\u2013595","journal-title":"Obstet Gynecol"},{"key":"4776_CR33","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1002\/uog.14636","volume":"45","author":"R Akolekar","year":"2015","unstructured":"Akolekar R, Beta J, Picciarelli G, Ogilvie C, D'Antonio F (2015) Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 45:16\u201326","journal-title":"Ultrasound Obstet Gynecol"},{"key":"4776_CR34","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1002\/uog.15820","volume":"47","author":"CB Wulff","year":"2016","unstructured":"Wulff CB, Gerds TA, Rode L et al (2016) 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 47:48\u201344","journal-title":"Ultrasound Obstet Gynecol"},{"key":"4776_CR35","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1002\/uog.15945","volume":"48","author":"T Ghi","year":"2016","unstructured":"Ghi T, Sotiriadis A, Calda P, Da Silva CF, Raine-Fenning N, Alfirevic Z, McGillivray G, on behalf of the International Society of Ultrasound in Obstetrics and Gynecology (2016) ISUOG Practice Guidelines: invasive procedures for prenatal diagnosis in obstetrics. Ultrasound Obstet Gynecol 48:256\u2013268","journal-title":"Ultrasound Obstet Gynecol"},{"key":"4776_CR36","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1056\/NEJM198903093201001","volume":"320","author":"GG Rhoads","year":"1989","unstructured":"Rhoads GG, Jackson LG, Schlesselman SE et al (1989) The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N Engl J Med 320:609\u2013617","journal-title":"N Engl J Med"},{"issue":"4","key":"4776_CR37","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1002\/pd.578","volume":"23","author":"JL Brun","year":"2003","unstructured":"Brun JL, Mangione R, Gangbo F et al (2003) Feasibility, accuracy and safety of chorionic villus sampling: a report of 10741 cases. Prenat Diagn 23(4):295\u2013301","journal-title":"Prenat Diagn"},{"issue":"2","key":"4776_CR38","first-page":"195","volume":"20","author":"YK Terzi","year":"2009","unstructured":"Terzi YK, Oguzkan-Balci S, Anlar B et al (2009) Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: importance of genetic counseling. Genet Couns 20(2):195\u2013202","journal-title":"Genet Couns"},{"issue":"9","key":"4776_CR39","doi-asserted-by":"publisher","first-page":"1786","DOI":"10.1093\/humrep\/dex234","volume":"32","author":"F Zegers-Hochschild","year":"2017","unstructured":"Zegers-Hochschild F, Adamson GD, Dyer S et al (2017) The international glossary on infertility and fertility care. Hum Reprod 32(9):1786\u20131801. \n                  https:\/\/doi.org\/10.1093\/humrep\/dex234","journal-title":"Hum Reprod"},{"issue":"2","key":"4776_CR40","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.jfma.2017.08.006","volume":"117","author":"HF Chen","year":"2018","unstructured":"Chen HF, Chen SU, Ma GC et al (2018) Preimplantation genetic diagnosis and screening: current status and future challenges. J Formos Med Assoc 117(2):94\u2013100","journal-title":"J Formos Med Assoc"},{"key":"4776_CR41","doi-asserted-by":"publisher","unstructured":"Cimadomo D, Capalbo A, Ubaldi FM, Scarica C, Palagiano A, Canipari R, Rienzi L (2016) The impact of biopsy on human embryo developmental potential during preimplantation genetic diagnosis. Biomed Res Int:7193075. \n                  https:\/\/doi.org\/10.1155\/2016\/7193075","DOI":"10.1155\/2016\/7193075"},{"issue":"3","key":"4776_CR42","doi-asserted-by":"publisher","first-page":"608","DOI":"10.1016\/j.fertnstert.2013.07.004","volume":"100","author":"KL Scott","year":"2013","unstructured":"Scott KL, Hong KH, Scott RT (2013) Selecting the optimal time to perform biopsy for preimplantation genetic testing. Fertil Steril 100(3):608\u2013614. \n                  https:\/\/doi.org\/10.1016\/j.fertnstert.2013.07.004","journal-title":"Fertil Steril"},{"key":"4776_CR43","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1016\/j.bpobgyn.2017.04.001","volume":"44","author":"VCY Lee","year":"2017","unstructured":"Lee VCY, Chow JFC, Yeung WSB, Ho PC (2017) Preimplantation genetic diagnosis for monogenic diseases. Best Pract Res Clin Obstet Gynaecol 44:68\u201375","journal-title":"Best Pract Res Clin Obstet Gynaecol"},{"issue":"1","key":"4776_CR44","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1080\/14737159.2017.1262261","volume":"17","author":"K Sermon","year":"2017","unstructured":"Sermon K (2017) Novel technologies emerging for preimplantation genetic diagnosis and preimplantation genetic testing for aneuploidy. Expert Rev Mol Diagn 17(1):71\u201382","journal-title":"Expert Rev Mol Diagn"},{"issue":"10","key":"4776_CR45","doi-asserted-by":"publisher","first-page":"1974","DOI":"10.1093\/humrep\/dex265","volume":"32","author":"M De Rycke","year":"2017","unstructured":"De Rycke M, Goossens V, Kokkali G, Meijer-Hoogeveen M, Coonen E, Moutou C (2017) ESHRE PGD Consortium data collection XIV\u2013XV: cycles from January 2011 to December 2012 with pregnancy follow-up to October 2013. Hum Reprod 32(10):1974\u20131994. \n                  https:\/\/doi.org\/10.1093\/humrep\/dex265","journal-title":"Hum Reprod"},{"issue":"3","key":"4776_CR46","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1097\/AOG.0000000000002786","volume":"132","author":"JF Kawwass","year":"2018","unstructured":"Kawwass JF, Badell ML (2018) Maternal and fetal risk associated with assisted reproductive technology. Obstet Gynecol 132(3):763\u2013772","journal-title":"Obstet Gynecol"},{"issue":"11","key":"4776_CR47","doi-asserted-by":"crossref","first-page":"1995","DOI":"10.1007\/s10815-018-1286-2","volume":"35","author":"M Heijligers","year":"2018","unstructured":"Heijligers M, van Montfoort A, Meijer-Hoogeveen M et al (2018) Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014. J Assist Reprod Genet 35(11):1995\u20132002","journal-title":"J Assist Reprod Genet"},{"issue":"19","key":"4776_CR48","doi-asserted-by":"publisher","first-page":"1803","DOI":"10.1056\/NEJMoa1008095","volume":"366","author":"MJ Davies","year":"2012","unstructured":"Davies MJ, Moore VM, Willson KJ et al (2012) Reproductive technologies and the risk of birth defects. N Engl J Med 366(19):1803\u20131813. \n                  https:\/\/doi.org\/10.1056\/NEJMoa1008095","journal-title":"N Engl J Med"},{"key":"4776_CR49","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1093\/humupd\/dmv017","volume":"21","author":"G Lazaraviciute","year":"2015","unstructured":"Lazaraviciute G, Kauser M, Bhattacharya S, Haggarty P, Bhattacharya S (2015) A systematic review and meta-analysis of DNA methylation levels and imprinting disorders in children conceived by IVF\/ICSI compared with children conceived spontaneously. Hum Reprod Update 21:555\u2013557","journal-title":"Hum Reprod Update"},{"issue":"5","key":"4776_CR50","doi-asserted-by":"publisher","first-page":"1221","DOI":"10.1093\/humrep\/den488","volume":"24","author":"L Wilton","year":"2009","unstructured":"Wilton L, Thornhill A, Traeger-Synodinos J, Sermon KD, Harper JC (2009) The causes of misdiagnosis and adverse outcomes in PGD. Hum Reprod 24(5):1221\u20131228. \n                  https:\/\/doi.org\/10.1093\/humrep\/den488\n                  \n                 Epub 2009 Jan 20","journal-title":"Hum Reprod"},{"issue":"10","key":"4776_CR51","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1002\/pd.5496","volume":"39","author":"R Butler","year":"2019","unstructured":"Butler R, Nakhuda G, Guimond C et al (2019) Analysis of PGT-M and PGT-SR outcomes at a Canadian fertility clinic. Prenat Diagn 39(10):866\u2013870","journal-title":"Prenat Diagn"},{"issue":"3","key":"4776_CR52","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1093\/humupd\/dmr052","volume":"18","author":"JC Harper","year":"2012","unstructured":"Harper JC, Wilton L, Traeger-Synodinos J et al (2012) The ESHRE PGD Consortium: 10 years of data collection. Hum Reprod Update 18(3):234\u2013247","journal-title":"Hum Reprod Update"},{"issue":"5","key":"4776_CR53","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1093\/molehr\/gah170","volume":"11","author":"C Spits","year":"2005","unstructured":"Spits C, De Rycke M, Van Rants N et al (2005) Preimplantation genetic diagnosis for neurofibromatosis type 1. Mol Hum Reprod 11(5):381\u2013387 Epub 2005 Apr 15","journal-title":"Mol Hum Reprod"},{"issue":"3","key":"4776_CR54","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1016\/j.fertnstert.2014.11.021","volume":"103","author":"VL Merker","year":"2015","unstructured":"Merker VL, Murphy TP, Hughes JB et al (2015) Outcomes of preimplantation genetic diagnosis in neurofibromatosis type 1. Fertil Steril 103(3):761\u2013768","journal-title":"Fertil Steril"},{"issue":"9","key":"4776_CR55","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1002\/pd.4874","volume":"36","author":"RP Naja","year":"2016","unstructured":"Naja RP, Dhanjal S, Doshi A et al (2016) The impact of mosaicism in preimplantation genetic diagnosis (PGD): approaches to PGD for dominant disorders in couples without family history. Prenat Diagn 36(9):864\u2013870","journal-title":"Prenat Diagn"},{"key":"4776_CR56","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/978-1-4939-8889-1_2","volume":"1885","author":"JL Simpson","year":"2019","unstructured":"Simpson JL, Kuliev A, Rechitsky S (2019) Overview of preimplantation genetic diagnosis (PGD): historical perspective and future direction. Methods Mol Biol 1885:23\u201343","journal-title":"Methods Mol Biol"},{"key":"4776_CR57","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1038\/nature23305-419","volume":"548","author":"H Ma","year":"2017","unstructured":"Ma H, Marti-Gutierrez N, Park SW et al (2017) Correction of a pathogenic gene mutation in human embryos. Nature 548:413\u2013419. \n                  https:\/\/doi.org\/10.1038\/nature23305-419","journal-title":"Nature"},{"issue":"4","key":"4776_CR58","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1016\/j.rbmo.2012.07.003","volume":"25","author":"G Altarescu","year":"2012","unstructured":"Altarescu G, Beeri R, Eldar-Geva T, Varshaver I, Margalioth EJ, Levy-Lahad E, Renbaum P (2012) PGD for germline mosaicism. Reprod BioMed Online 25(4):390\u2013395","journal-title":"Reprod BioMed Online"},{"issue":"7","key":"4776_CR59","doi-asserted-by":"publisher","first-page":"656","DOI":"10.1002\/pd.4583","volume":"35","author":"LS Chitty","year":"2015","unstructured":"Chitty LS, Mason S, Barrett AN et al (2015) Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach. Prenat Diagn 35(7):656\u2013662. \n                  https:\/\/doi.org\/10.1002\/pd.4583","journal-title":"Prenat Diagn"},{"key":"4776_CR60","doi-asserted-by":"crossref","unstructured":"Perlado S, Bustamante-Aragon\u00e9s A, Donas M et al (2016) Fetal genotyping in maternal blood by digital PCR: towards NIPD of monogenic disorders independently of parental origin. PLoS One 11(4)","DOI":"10.1371\/journal.pone.0153258"},{"issue":"2","key":"4776_CR61","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.siny.2017.12.002","volume":"23","author":"J Hayward","year":"2018","unstructured":"Hayward J, Chitty L (2018) Beyond screening for chromosomal abnormalities: advances in non-invasive diagnosis of single gene disorders and fetal exome sequencing. Semin Fetal Neonatal Med 23(2):94\u2013101","journal-title":"Semin Fetal Neonatal Med"},{"issue":"5","key":"4776_CR62","doi-asserted-by":"publisher","first-page":"728","DOI":"10.1515\/cclm-2017-0689","volume":"56","author":"A Gruber","year":"2018","unstructured":"Gruber A, Pacault M, El Khattabi LA et al (2018) Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR. Clin Chem Lab Med 56(5):728\u2013738. \n                  https:\/\/doi.org\/10.1515\/cclm-2017-0689","journal-title":"Clin Chem Lab Med"},{"key":"4776_CR63","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1038\/s41591-019-0473-8","volume":"25","author":"DP Wolf","year":"2019","unstructured":"Wolf DP, Mitalipov PA, Mitalipov SM (2019) Principles of and strategies for germline gene therapy. Nat Med 25:890\u2013897","journal-title":"Nat Med"},{"key":"4776_CR64","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41392-019-0089-y","volume":"5","author":"H Li","year":"2020","unstructured":"Li H, Yang Y, Hong W et al (2020) Applications of genome editing technology in the targeted therapy of human diseases: mechanisms, advances and prospects. Sig Transduct Target Ther 5:1","journal-title":"Sig Transduct Target Ther"},{"issue":"8","key":"4776_CR65","doi-asserted-by":"crossref","first-page":"103682","DOI":"10.1016\/j.ejmg.2019.103682","volume":"62","author":"JC Harper","year":"2019","unstructured":"Harper JC, Schatten G (2019) Are we ready for genome editing in human embryos for clinical purposes? Eur J Med Genet 62(8):103682","journal-title":"Eur J Med Genet"},{"key":"4776_CR66","unstructured":"Nuffield Council on Bioethics (2018) Genome editing and human reproduction: social and ethical issues. Available at \n                  https:\/\/scipol.duke.edu\/track\/genome-editing-and-human-reproduction-social-and-ethical-issues\n                  \n                . Accessed 1 May 2020."},{"key":"4776_CR67","unstructured":"UNESCO (2018) UNESCO cautions against reckless application of gene editing. Available at \n                  https:\/\/en.unesco.org\/news\/unesco-cautions-against-reckless-application-gene-editing\n                  \n                 Accessed 1 may 2020"},{"key":"4776_CR68","volume-title":"Human Genome Editing: Science, Ethics, and Governance","author":"National Academies of Sciences, Engineering, and Medicine; National Academy of Medicine; National Academy of Sciences; Committee on Human Gene Editing: Scientific, Medical, and Ethical Considerations","year":"2017","unstructured":"National Academies of Sciences, Engineering, and Medicine; National Academy of Medicine; National Academy of Sciences; Committee on Human Gene Editing: Scientific, Medical, and Ethical Considerations (2017) Human Genome Editing: Science, Ethics, and Governance. the National Academies Press, Washington, DC"},{"issue":"4","key":"4776_CR69","first-page":"592","volume":"42","author":"DC Wertz","year":"1988","unstructured":"Wertz DC, Fletcher JC (1988) Attitudes of genetic counselors: a multinational survey. Am J Hum Genet 42(4):592\u2013600","journal-title":"Am J Hum Genet"}],"container-title":["Child's Nervous System"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00381-020-04776-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00381-020-04776-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00381-020-04776-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,10,20]],"date-time":"2020-10-20T08:24:10Z","timestamp":1603182250000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00381-020-04776-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,5]]},"references-count":69,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2020,10]]}},"alternative-id":["4776"],"URL":"https:\/\/doi.org\/10.1007\/s00381-020-04776-3","relation":{},"ISSN":["0256-7040","1433-0350"],"issn-type":[{"value":"0256-7040","type":"print"},{"value":"1433-0350","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,7,5]]},"assertion":[{"value":"22 May 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 June 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 July 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}