{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T06:22:07Z","timestamp":1790230927743,"version":"4.1.0"},"reference-count":14,"publisher":"American Academy of Pediatrics (AAP)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2004,9,1]]},"abstract":"<jats:p>Objective. To evaluate differences in phenotype and other clinical features between patients who have Turner syndrome diagnosed incidentally (on the basis of a prenatal karyotype performed for reasons unrelated to suspicion of Turner syndrome, eg, advanced maternal age) or traditionally (on the basis of either a prenatal karyotype performed for abnormal ultrasound findings or a postnatal karyotype performed for clinical findings suggesting Turner syndrome).<\/jats:p>\n               <jats:p>Methods. Analysis was performed on baseline data from 88 girls, aged 9 months to 4 years, who were randomized into a multicenter growth hormone intervention trial. Baseline information included a detailed medical history (especially of cardiac and renal anomalies), examination for presence of phenotypic features characteristic of Turner syndrome, length or height (depending on age) expressed as a standard deviation score, and weight standard deviation score. Patients were classified to either the \u201cincidental\u201d (N = 16) or the \u201ctraditional\u201d (N = 72) diagnosis group as described above.<\/jats:p>\n               <jats:p>Results. The incidental group had significantly fewer total phenotypic features of Turner syndrome than the traditional group (3.6 \u00b1 2.9 vs 6.7 \u00b1 2.9). When subgrouped by karyotype, the proportion of patients who manifested phenotypic features was greatest in patients with a 45,X nonmosaic karyotype, lowest in the patients with 45,X\/46,XX mosaicism, and intermediate in those with \u201cother\u201d karyotypes. Fewer congenital cardiac defects were observed in the incidental group (31%) compared with the traditional group (64%), but there was no difference between the groups in the prevalence of renal defects. Karyotype distribution differed significantly between the traditional and incidental groups: 74% versus 19% had the nonmosaic 45,X karyotype in the traditional group and 7% versus 56% had the mosaic 45,X\/46,XX karyotype.<\/jats:p>\n               <jats:p>Conclusions. Patients whose Turner syndrome was diagnosed incidentally had significantly fewer phenotypic features and cardiac defects, as well as a greater proportion of mosaic karyotypes, compared with patients whose Turner syndrome was diagnosed clinically. These results support the theory that significant ascertainment bias exists in our understanding Turner syndrome, with important implications for prenatal counseling.<\/jats:p>","DOI":"10.1542\/peds.2003-1122-l","type":"journal-article","created":{"date-parts":[[2004,11,5]],"date-time":"2004-11-05T17:23:17Z","timestamp":1099675397000},"page":"640-644","source":"Crossref","is-referenced-by-count":72,"title":["Ascertainment Bias in Turner Syndrome: New Insights From Girls Who Were Diagnosed Incidentally in Prenatal Life"],"prefix":"10.1542","volume":"114","author":[{"given":"Daniel F.","family":"Gunther","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Endocrinology, Children's Hospital and Regional Medical Center, Seattle, Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica","family":"Eugster","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Riley Hospital for Children, Indianapolis, Indiana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony J.","family":"Zagar","sequence":"additional","affiliation":[{"name":"Lilly Research Laboratories, US Medical Division, Endocrine, Eli Lilly and Company, Indianapolis, Indiana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constance G.","family":"Bryant","sequence":"additional","affiliation":[{"name":"Lilly Research Laboratories, US Medical Division, Endocrine, Eli Lilly and Company, Indianapolis, Indiana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marsha L.","family":"Davenport","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of North Carolina, Chapel Hill, North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charmian A.","family":"Quigley","sequence":"additional","affiliation":[{"name":"Lilly Research Laboratories, US Medical Division, Endocrine, Eli Lilly and Company, Indianapolis, Indiana"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2004,9,1]]},"reference":[{"key":"2021121011140602200_R1","unstructured":"Davenport ML, Calikoglu AS. Turner syndrome. In: Pescovitz OH, Eugster EA, eds. Pediatric Endocrinology; Mechanisms, Manifestations and Management. Baltimore, MD: Lippincott Williams Wilkins; 2004:203\u2013223"},{"key":"2021121011140602200_R2","unstructured":"Sybert VP. The adult patient with Turner syndrome. In: Albertsson-Wikland K, Ranke MB, eds. Turner Syndrome in a Life Span Perspective: Research and Clinical Aspects. New York, NY: Elsevier; 1995:205\u2013218"},{"key":"2021121011140602200_R3","doi-asserted-by":"crossref","unstructured":"Pavlidis K, McCauley E, Sybert VP. Psychosocial and sexual functioning in women with Turner syndrome. Clin Genet.\u20081995;47:85\u201389","DOI":"10.1111\/j.1399-0004.1995.tb03929.x"},{"key":"2021121011140602200_R4","doi-asserted-by":"crossref","unstructured":"Verp MS, Bombard AT, Simpson JL, Elias S. Parental decision following prenatal diagnosis of fetal chromosomal abnormality. Am J Med Genet.\u20081988;29:613\u2013622","DOI":"10.1002\/ajmg.1320290320"},{"key":"2021121011140602200_R5","doi-asserted-by":"crossref","unstructured":"Hook EB, Warburton D. The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet.\u20081983;64:24\u201327","DOI":"10.1007\/BF00289473"},{"key":"2021121011140602200_R6","doi-asserted-by":"crossref","unstructured":"Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet.\u20081992;87:81\u201383","DOI":"10.1007\/BF01213097"},{"key":"2021121011140602200_R7","doi-asserted-by":"crossref","unstructured":"Gravholt CH, Juul S, Naeraa RW, Hansen J. Prenatal and postnatal prevalence of Turner's syndrome: a registry study. BMJ.\u20081996;312:16\u201321","DOI":"10.1136\/bmj.312.7022.16"},{"key":"2021121011140602200_R8","unstructured":"Kuczmarski RJ, Ogden CL, Grummer-Strawn LM, et al. CDC growth charts: United States. Adv Data.\u20082000;314:1\u201327"},{"key":"2021121011140602200_R9","doi-asserted-by":"crossref","unstructured":"Jacobs PA, Melville M, Ratcliffe S, Keay AJ, Syme J. A cytogenetic survey of 11,680 newborn infants. Ann Hum Genet.\u20081974;37:359\u2013376","DOI":"10.1111\/j.1469-1809.1974.tb01843.x"},{"key":"2021121011140602200_R10","unstructured":"Lippe BM. Turner syndrome. In: Sperling MA, ed. Pediatric Endocrinology. Philadelphia, PA: WB Saunders Company; 1996:387\u2013421"},{"key":"2021121011140602200_R11","doi-asserted-by":"crossref","unstructured":"Savendahl l, Davenport ML. Delayed diagnosis of Turner's syndrome: proposed guidelines for change. J Pediatr.\u20082000;137:455\u2013459","DOI":"10.1067\/mpd.2000.107390"},{"key":"2021121011140602200_R12","unstructured":"Koeberl DD, McGillivray B, Sybert VP. Prenatal diagnosis of 45,X\/46,XX mosaicism and 45,X: implications for postnatal outcome. Am J Hum Genet.\u20081995;57:661\u2013666"},{"key":"2021121011140602200_R13","doi-asserted-by":"crossref","unstructured":"Robinson A, Bender BG, Linden MG. Decisions following the intrauterine diagnosis of sex chromosome aneuploidy. Am J Med Genet.\u20081989;34:552\u2013554","DOI":"10.1002\/ajmg.1320340420"},{"key":"2021121011140602200_R14","unstructured":"Buckway CK, Magenis RE, Bissonnette JM, Olson S, Rosenfeld RG. Prenatal diagnosis of Turner syndrome: the Portland experience. In: Saenger P, Pasquino AM, eds. 5th International Turner Symposium\u2014Optimizing Health Care for Turner Patients in the 21st century. Amsterdam, The Netherlands: Elsevier; 2000:69\u201376"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/114\/3\/640\/1027764\/zpe00904000640.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/114\/3\/640\/1027764\/zpe00904000640.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,11]],"date-time":"2021-12-11T00:12:27Z","timestamp":1639181547000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/114\/3\/640\/67159\/Ascertainment-Bias-in-Turner-Syndrome-New-Insights"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,9,1]]},"references-count":14,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2004,9,1]]},"published-print":{"date-parts":[[2004,9,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.2003-1122-l","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"value":"0031-4005","type":"print"},{"value":"1098-4275","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,9,1]]}}}