{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T02:24:07Z","timestamp":1768875847431,"version":"3.49.0"},"reference-count":47,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,12,1]],"date-time":"2024-12-01T00:00:00Z","timestamp":1733011200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,12,1]],"date-time":"2024-12-01T00:00:00Z","timestamp":1733011200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,12,1]],"date-time":"2024-12-01T00:00:00Z","timestamp":1733011200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2024,12,1]],"date-time":"2024-12-01T00:00:00Z","timestamp":1733011200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2024,12,1]],"date-time":"2024-12-01T00:00:00Z","timestamp":1733011200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2024,12,1]],"date-time":"2024-12-01T00:00:00Z","timestamp":1733011200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2024,12,1]],"date-time":"2024-12-01T00:00:00Z","timestamp":1733011200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Best Practice & Research Clinical Obstetrics & Gynaecology"],"published-print":{"date-parts":[[2024,12]]},"DOI":"10.1016\/j.bpobgyn.2024.102546","type":"journal-article","created":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T16:47:45Z","timestamp":1725382065000},"page":"102546","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"special_numbering":"C","title":["Genetic disorders in maternal medicine"],"prefix":"10.1016","volume":"97","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8938-7242","authenticated-orcid":false,"given":"Maggie","family":"O\u2019Brien","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sinead","family":"Whyte","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sam","family":"Doyle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fionnuala M.","family":"McAuliffe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.bpobgyn.2024.102546_bib1","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1016\/j.kint.2016.05.035","article-title":"Pre-pregnancy advice in chronic kidney disease: do not forget genetic counseling","volume":"90","author":"van Eerde","year":"2016","journal-title":"Kidney Int"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib2","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1038\/s41586-021-04249-w","article-title":"RNA profiles reveal signatures of future health and disease in pregnancy","volume":"601","author":"Rasmussen","year":"2022","journal-title":"Nature"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib3","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1007\/s11892-015-0709-z","article-title":"Genetics of gestational diabetes mellitus and maternal metabolism","volume":"16","author":"Lowe","year":"2016","journal-title":"Curr Diabetes Rep"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib4","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1186\/s12884-020-03240-z","article-title":"Whole-exome sequencing reveals ANO8 as a genetic risk factor for intrahepatic cholestasis of pregnancy","volume":"20","author":"Liu","year":"2020","journal-title":"BMC Pregnancy Childbirth"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib5","doi-asserted-by":"crossref","first-page":"1845","DOI":"10.1111\/1471-0528.17129","article-title":"Whole-exome sequencing uncovers new variants in GDF15 associated with hyperemesis gravidarum","volume":"129","author":"Fejzo","year":"2022","journal-title":"BJOG"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib6","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1136\/jmedgenet-2017-104974","article-title":"Catalogue of inherited disorders found among the Irish Traveller population","volume":"55","author":"Lynch","year":"2018","journal-title":"J Med Genet"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib7","series-title":"Oxford desk reference: clinical genetics and genomics","author":"Firth","year":"2017"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib8","first-page":"23","volume":"vol. 28","author":"Sokhi","year":"2020"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib9","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1111\/1471-0528.16957","article-title":"Pregnancy rates and outcomes in women with cystic fibrosis in the UK: comparisons with the general population before and after the introduction of disease-modifying treatment, 2003-17","volume":"129","author":"Esan","year":"2022","journal-title":"BJOG"},{"issue":"Suppl 1","key":"10.1016\/j.bpobgyn.2024.102546_bib10","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/j.prrv.2013.01.006","article-title":"CFTR2 team. CFTR2: how will it help care?","volume":"14","author":"Castellani","year":"2013","journal-title":"Paediatr Respir Rev"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib11","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1177\/1753495X14554022","article-title":"Pregnancy and cystic fibrosis: approach to contemporary management","volume":"7","author":"Geake","year":"2014","journal-title":"Obstet Med"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib12","doi-asserted-by":"crossref","first-page":"1669","DOI":"10.1038\/s41431-020-0661-5","article-title":"National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years","volume":"28","author":"Sasaki","year":"2020","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib13","doi-asserted-by":"crossref","first-page":"1460","DOI":"10.1378\/chest.124.4.1460","article-title":"The effect of pregnancy on survival in women with cystic fibrosis","volume":"124","author":"Goss","year":"2003","journal-title":"Chest"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib14","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1378\/chest.118.1.85","article-title":"Pregnancy in cystic fibrosis. Fetal and maternal outcome","volume":"118","author":"Gilljam","year":"2000","journal-title":"Chest"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib15","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1111\/1471-0528.12040","article-title":"The outcome of pregnancies in women with cystic fibrosis--single centre experience 1998-2011","volume":"120","author":"Thorpe-Beeston","year":"2013","journal-title":"BJOG"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib16","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1016\/j.jcf.2020.09.002","article-title":"Baseline Cystic fibrosis disease severity has an adverse impact on pregnancy and infant outcomes, but does not impact disease progression","volume":"20","author":"Cohen-Cymberknoh","year":"2021","journal-title":"J Cyst Fibros"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib17","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1007\/s13300-022-01223-1","article-title":"Cystic fibrosis-related diabetes mellitus and pregnancy: a retrospective study","volume":"13","author":"Davern","year":"2022","journal-title":"Diabetes Ther"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib18","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.ijoa.2013.10.006","article-title":"Anaesthesia for parturients with severe cystic fibrosis: a case series","volume":"23","author":"Deighan","year":"2014","journal-title":"Int J Obstet Anesth"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib19","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3310\/hta8120","article-title":"Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review","volume":"8","author":"Pandor","year":"2004","journal-title":"Health Technol Assess"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib20","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/j.ajhg.2020.06.006","article-title":"The genetic landscape and epidemiology of phenylketonuria","volume":"107","author":"Hillert","year":"2020","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib21","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1542\/peds.32.3.338","article-title":"A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants","volume":"32","author":"Guthrie","year":"1963","journal-title":"Pediatrics"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib22","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.1016\/S0140-6736(10)60961-0","article-title":"Phenylketonuria","volume":"376","author":"Blau","year":"2010","journal-title":"Lancet"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib23","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1089\/hum.2009.127","article-title":"Comparison of adeno-associated virus pseudotype 1, 2, and 8 vectors administered by intramuscular injection in the treatment of murine phenylketonuria","volume":"21","author":"Rebuffat","year":"2010","journal-title":"Hum Gene Ther"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib24","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1002\/humu.20526","article-title":"The PAH gene, phenylketonuria, and a paradigm shift","volume":"28","author":"Scriver","year":"2007","journal-title":"Hum Mutat"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib25","doi-asserted-by":"crossref","first-page":"1537","DOI":"10.1542\/peds.112.S4.1537","article-title":"Relation of prenatal phenylalanine exposure to infant and childhood cognitive outcomes: results from the International Maternal PKU Collaborative Study","volume":"112","author":"Widaman","year":"2003","journal-title":"Pediatrics"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib26","doi-asserted-by":"crossref","first-page":"1202","DOI":"10.1056\/NEJM198011203032104","article-title":"Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies","volume":"303","author":"Lenke","year":"1980","journal-title":"N Engl J Med"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib27","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1016\/S0140-6736(15)00728-X","article-title":"Osteogenesis imperfecta","volume":"387","author":"Forlino","year":"2016","journal-title":"Lancet"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib28","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/BF01991915","article-title":"Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation","volume":"154","author":"Raghunath","year":"1995","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib29","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1136\/jmg.32.4.284","article-title":"Perinatal lethal osteogenesis imperfecta","volume":"32","author":"Cole","year":"1995","journal-title":"J Med Genet"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib30","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1002\/ajmg.c.31553","article-title":"Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome","volume":"175","author":"Byers","year":"2017","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib31","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1038\/s41431-023-01343-7","article-title":"Diagnosis and management of vascular Ehlers-Danlos syndrome: experience of the UK national diagnostic service, Sheffield","volume":"31","author":"Bowen","year":"2023","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib32","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1056\/NEJM200003093421001","article-title":"Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type","volume":"342","author":"Pepin","year":"2000","journal-title":"N Engl J Med"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib33","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1038\/gim.2014.53","article-title":"Pregnancy-related deaths and complications in women with vascular Ehlers-Danlos syndrome","volume":"16","author":"Murray","year":"2014","journal-title":"Genet Med"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib34","first-page":"3055","article-title":"The first ESC Guidelines on the management of cardiovascular diseases during pregnancy","volume":"32","author":"Taylor","year":"2011","journal-title":"Eur Heart J"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib35","doi-asserted-by":"crossref","first-page":"3897","DOI":"10.1210\/jc.2006-0558","article-title":"Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome","volume":"91","author":"Stochholm","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib36","doi-asserted-by":"crossref","first-page":"1487","DOI":"10.1210\/jc.2009-0926","article-title":"Approach to the patient with Turner syndrome","volume":"95","author":"Davenport","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib37","doi-asserted-by":"crossref","first-page":"G1","DOI":"10.1530\/EJE-17-0430","article-title":"Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting","volume":"177","author":"Gravholt","year":"2017","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib38","first-page":"1810","article-title":"Spontaneous pubertal development in turner's syndrome. Italian study group for turner's syndrome","volume":"82","author":"Pasquino","year":"1997","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib39","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1093\/humrep\/dew012","article-title":"Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome","volume":"31","author":"Bernard","year":"2016","journal-title":"Hum Reprod"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib40","doi-asserted-by":"crossref","first-page":"2507","DOI":"10.1016\/j.fertnstert.2010.12.039","article-title":"Pregnancy rate and outcome in Swedish women with Turner syndrome","volume":"95","author":"Bryman","year":"2011","journal-title":"Fertil Steril"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib41","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1111\/1471-0528.17025","article-title":"Pregnancies in women with Turner syndrome: a retrospective multicentre UK study","volume":"129","author":"Cauldwell","year":"2022","journal-title":"BJOG"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib42","doi-asserted-by":"crossref","first-page":"1663","DOI":"10.1161\/CIRCULATIONAHA.106.685487","article-title":"Aortic dilatation and dissection in Turner syndrome","volume":"116","author":"Matura","year":"2007","journal-title":"Circulation"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib43","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1186\/s12958-015-0055-7","article-title":"Reproductive and obstetric outcomes in mosaic Turner's Syndrome: a cross-sectional study and review of the literature","volume":"13","author":"Do\u011fer","year":"2015","journal-title":"Reprod Biol Endocrinol"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib44","doi-asserted-by":"crossref","first-page":"1275","DOI":"10.1016\/S0140-6736(03)14571-0","article-title":"Genetic cause of hyperglycaemia and response to treatment in diabetes","volume":"362","author":"Pearson","year":"2003","journal-title":"Lancet"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib45","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejogrb.2024.05.019","article-title":"Current status and future of genomics in fetal and maternal medicine: a scientific review commissioned by European Board and College of Obstetrics and Gynaecology (EBCOG)","author":"O\u2019Brien","year":"2024","journal-title":"Eur J Obstet Gynecol Reprod Biol"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib46","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1038\/ejhg.2014.116","article-title":"The role of the genetic counsellor: a systematic review of research evidence","volume":"23","author":"Skirton","year":"2015","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.bpobgyn.2024.102546_bib47","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1038\/s41431-022-01212-9","article-title":"The genetic counsellor role in the United Kingdom","volume":"31","author":"Middleton","year":"2022","journal-title":"Eur J Hum Genet"}],"container-title":["Best Practice & Research Clinical Obstetrics & Gynaecology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521693424001007?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521693424001007?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,12,3]],"date-time":"2024-12-03T19:21:06Z","timestamp":1733253666000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521693424001007"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12]]},"references-count":47,"alternative-id":["S1521693424001007"],"URL":"https:\/\/doi.org\/10.1016\/j.bpobgyn.2024.102546","relation":{},"ISSN":["1521-6934"],"issn-type":[{"value":"1521-6934","type":"print"}],"subject":[],"published":{"date-parts":[[2024,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic disorders in maternal medicine","name":"articletitle","label":"Article Title"},{"value":"Best Practice & Research Clinical Obstetrics & Gynaecology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bpobgyn.2024.102546","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}],"article-number":"102546"}}