{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T07:28:12Z","timestamp":1769585292275,"version":"3.49.0"},"reference-count":21,"publisher":"American Academy of Pediatrics (AAP)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,5,1]]},"abstract":"<jats:p>Advances in prenatal diagnosis create a unique set of clinical ethics dilemmas. Doctors routinely obtain genetic screening, radiologic images, and biophysical profiling. These allow more accurate diagnosis and prognosis than has ever before been possible. However, they also reveal a wider range of disease manifestations than were apparent when prenatal diagnosis was less sophisticated. Sometimes, the best estimates of prognosis turn out to be wrong. The infant\u2019s symptoms may be less severe or more severe than anticipated based on prenatal assessment. We present a case in which a prenatal diagnosis was made of severe osteogenesis imperfecta, leading to a decision to induce delivery at 31 weeks. On postnatal evaluation, the infant\u2019s disease did not appear to be as bad as had been anticipated. We discuss the ethical implications of such diagnostic and prognostic errors.<\/jats:p>","DOI":"10.1542\/peds.2015-4514","type":"journal-article","created":{"date-parts":[[2016,4,1]],"date-time":"2016-04-01T12:14:11Z","timestamp":1459512851000},"source":"Crossref","is-referenced-by-count":25,"title":["What If the Prenatal Diagnosis of a Lethal Anomaly Turns Out to Be Wrong?"],"prefix":"10.1542","volume":"137","author":[{"given":"Andr\u00e9","family":"Kidszun","sequence":"first","affiliation":[{"name":"Departments of Neonatology, and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Linebarger","sequence":"additional","affiliation":[{"name":"Children\u2019s Mercy Hospital, Kansas City, Missouri; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer K.","family":"Walter","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Philadelphia, Philadelphia, Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norbert W.","family":"Paul","sequence":"additional","affiliation":[{"name":"Institute for the History, Philosophy, and Ethics of Medicine, University Medical Center, Mainz, Germany;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anja","family":"Fruth","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology, and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Mildenberger","sequence":"additional","affiliation":[{"name":"Departments of Neonatology, and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John D.","family":"Lantos","sequence":"additional","affiliation":[{"name":"Children\u2019s Mercy Hospital, Kansas City, Missouri; and"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[2016,5,1]]},"reference":[{"issue":"7","key":"2021120904400003600_B1","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1002\/humu.9430","article-title":"Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.","volume":"27","author":"Pollitt","year":"2006","journal-title":"Hum Mutat"},{"issue":"6","key":"2021120904400003600_B2","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1002\/(SICI)1097-0223(199706)17:6<559::AID-PD111>3.0.CO;2-G","article-title":"Strategies and outcomes of prenatal diagnosis for osteogenesis imperfecta: a review of biochemical and molecular studies completed in 129 pregnancies.","volume":"17","author":"Pepin","year":"1997","journal-title":"Prenat Diagn"},{"issue":"2","key":"2021120904400003600_B3","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1002\/ajmg.1320450210","article-title":"Non-invasive prenatal diagnosis of osteogenesis imperfecta.","volume":"45","author":"Thompson","year":"1993","journal-title":"Am J Med Genet"},{"issue":"1","key":"2021120904400003600_B4","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1148\/radiology.174.1.2403681","article-title":"Osteogenesis imperfecta type II: prenatal sonographic diagnosis.","volume":"174","author":"Munoz","year":"1990","journal-title":"Radiology"},{"issue":"3","key":"2021120904400003600_B5","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1002\/pd.1970040314","article-title":"Simple ultrasonic diagnosis of osteogenesis imperfecta type II in early second trimester.","volume":"4","author":"Ghosh","year":"1984","journal-title":"Prenat Diagn"},{"issue":"9418","key":"2021120904400003600_B6","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1016\/S0140-6736(04)16051-0","article-title":"Osteogenesis imperfecta.","volume":"363","author":"Rauch","year":"2004","journal-title":"Lancet"},{"issue":"6","key":"2021120904400003600_B7","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1038\/jp.2010.124","article-title":"Length of life and treatment intensity in infants diagnosed prenatally or postnatally with congenital anomalies considered to be lethal.","volume":"31","author":"Courtwright","year":"2011","journal-title":"J Perinatol"},{"key":"2021120904400003600_B8","volume-title":"J Perinatol","author":"McCaffrey","year":"2011"},{"issue":"11","key":"2021120904400003600_B9","doi-asserted-by":"crossref","first-page":"1302","DOI":"10.1111\/j.1471-0528.2012.03450.x","article-title":"Fatally flawed? 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