{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T11:54:42Z","timestamp":1791806082898,"version":"4.3.4"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,5,27]],"date-time":"2013-05-27T00:00:00Z","timestamp":1369612800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,4]]},"abstract":"<jats:p>The aim of this study is to explore women's experiences of using newly developed non\u2010invasive prenatal diagnosis (<jats:styled-content style=\"fixed-case\">NIPD<\/jats:styled-content>) for single gene disorders. Methods used in this study include qualitative one\u2010to\u2010one interviews with eight women with pregnancies at risk of achondroplasia, Apert syndrome, thanatophoric dysplasia or a neuromuscular condition. The results of the study show that the women were positive about an accurate, safe, and early test. Where the foetus was at increased risk of inheriting a genetic condition, the benefits of <jats:styled-content style=\"fixed-case\">NIPD<\/jats:styled-content> over invasive testing were that it reduced the period of uncertainty and worry by being conducted within the first trimester. For those women for whom there was a low recurrence risk, the period of uncertainty could be reduced and pregnancy \u2018normalized\u2019 earlier. For women who would not have risked invasive testing, <jats:styled-content style=\"fixed-case\">NIPD<\/jats:styled-content> enabled them to have an early diagnostic test that was more accurate than ultrasound. Where ultrasound abnormalities were detected, <jats:styled-content style=\"fixed-case\">NIPD<\/jats:styled-content> ended the \u2018diagnostic odyssey\u2019, enabling women to make practical and psychological preparations for the birth. <jats:styled-content style=\"fixed-case\">NIPD<\/jats:styled-content> conducted through specialist services was considered most appropriate. <jats:styled-content style=\"fixed-case\">NIPD<\/jats:styled-content> for these particular single gene disorders was appreciated by women and appears to be satisfactory. Further exploration of stakeholder views may be required to inform more widespread implementation of <jats:styled-content style=\"fixed-case\">NIPD<\/jats:styled-content> for a broader range of genetic conditions.<\/jats:p>","DOI":"10.1111\/cge.12179","type":"journal-article","created":{"date-parts":[[2013,5,1]],"date-time":"2013-05-01T06:14:54Z","timestamp":1367388894000},"page":"336-342","source":"Crossref","is-referenced-by-count":57,"title":["Non\u2010invasive prenatal diagnosis for single gene disorders: experience of patients"],"prefix":"10.1111","volume":"85","author":[{"given":"C.","family":"Lewis","sequence":"first","affiliation":[{"name":"Genetic Alliance UK  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Hill","sequence":"additional","affiliation":[{"name":"Clinical and Molecular Genetics Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.S.","family":"Chitty","sequence":"additional","affiliation":[{"name":"Clinical and Molecular Genetics Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust  London UK"},{"name":"Fetal Medicine Unit University College London Hospitals NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,5,27]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000271995"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpobgyn.2012.03.004"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2575"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.8893"},{"key":"e_1_2_6_6_1","doi-asserted-by":"crossref","unstructured":"LenchN BarrettA FieldingSet al. Non-invasive prenatal testing for skeletal disorders. Prenat Diagn 2013. DOI: 10.1002\/pd.4124. 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An assessment of genetic counselors' opinions on how non\u2010invasive prenatal diagnosis may impact genetic counseling services [Masters]: Brandeis University.2010 http:\/\/bit.ly\/NIPD\u2010opinion. 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