{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T06:18:46Z","timestamp":1780726726788,"version":"3.54.1"},"reference-count":44,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4526,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,1,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The main mode of non\u2010invasive prenatal diagnosis of osteogenesis imperfecta (OI) is fetal imaging, either by radiography or detailed ultrasonography. Radiography is more of historical interest and ultrasonography is in practice virtually exclusively used for non\u2010invasive second trimester diagnosis of OI. Both methods have also been reported later in pregnancy when diagnosis allows the most appropriate method of delivery to be planned. For example, a caesarean section can be avoided if the fetus is shown to have a form of OI associated with limited survival.<\/jats:p><jats:p>Ultrasonography is useful mainly for prenatal diagnosis of the severe forms of OI, especially the perinatally lethal forms (Sillence type II) and to a lesser extent for the severe progressively deforming forms (Sillence types III and III\/IV). For the milder varieties of OI (Sillence types I and IV), many cases will be missed by scans. Invasive methods of prenatal diagnosis of OI (principally chorion villous sampling) are used for families with the milder dominant forms of OI and in severe forms of OI in which the actual biochemical or molecular defect in type I collagen is known.<\/jats:p><jats:p>Many cases of type II OI and a few of type III have now been reported which were detected by scans before 20 weeks gestation, the earliest being at 15 weeks, for type IIA OI. These include cases not only at genetic risk but also sporadic cases in which scans were done either routinely or for obstetric indications.<\/jats:p><jats:p>The ultrasonic abnormalities which are found include reduced echogenicity, multiple fractures, and deformity of the long bones, ribs and skull. There is a marked reduction of long bone length on measurement. The abnormalities are more severe in type II OI than in type III.<\/jats:p><jats:p>No false negative diagnoses have yet been reported for severe OI. Ultrasonography is a reliable mode of prenatal diagnosis for a pregnancy at risk of type II OI and probably also for type III, although more reports for the latter are needed to give more information about the likelihood of false negative diagnoses in this form of OI. For pregnancies at risk of types II and III OI, serial scans from 14 weeks gestation can be offered. An experienced operator, using a good realitime scanner should be able to detect type II OI by at least 17 weeks gestation, and type III OI by 19 to 20 weeks. In future, it may be possible to diagnose type II OI in the first trimester by ultrasound using an intravaginal transducer.<\/jats:p>","DOI":"10.1002\/ajmg.1320450210","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:39:13Z","timestamp":1118507953000},"page":"201-206","source":"Crossref","is-referenced-by-count":34,"title":["Non\u2010invasive prenatal diagnosis of osteogenesis imperfecta"],"prefix":"10.1002","volume":"45","author":[{"given":"Elizabeth M.","family":"Thompson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190410"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(88)90516-9"},{"key":"e_1_2_1_4_1","volume-title":"Prenatal Diagnosis","author":"Campbell S","year":"1984"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(82)90662-7"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970110205"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01765605"},{"issue":"3","key":"e_1_2_1_8_1","first-page":"125","article-title":"Midtrimester diagnosis of osteogenesis imperfecta, type II","volume":"18","author":"Dinno ND","year":"1982","journal-title":"BD:OAS"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140215"},{"key":"e_1_2_1_10_1","first-page":"103","article-title":"A case of osteogenesis imperfecta diagnosed in utero","volume":"67","author":"Frerking HW","year":"1952","journal-title":"Am J Roentgenology"},{"key":"e_1_2_1_11_1","first-page":"265","article-title":"Pranatale Diagnose einer Osteogenesis imperfecta, Typ II, nach AID","volume":"189","author":"Gigon U","year":"1985","journal-title":"Z Geburtsh u Perinat"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970040314"},{"key":"e_1_2_1_13_1","first-page":"423","volume-title":"Antenatal and Neonatal screening","author":"Gough JD","year":"1984"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(75)90101-5"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(82)90735-9"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.3109\/15513818809041570"},{"key":"e_1_2_1_17_1","first-page":"477","article-title":"Obstetric management of a fetus with nonlethal osteogenesis imperfecta","volume":"72","author":"Kuller J","year":"1988","journal-title":"Obstetrics and Gynecology"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcu.1870140510"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-55-652-310"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03059.x"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.174.1.2403681"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-40-474-449"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00452095"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970030314"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/0028-2243(90)90023-T"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970110907"},{"key":"e_1_2_1_27_1","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1016\/0002-9378(78)90257-0","article-title":"Monitoring of fetus with osteogenesis imperfecta and severe anemia","volume":"131","author":"Pokoly TB","year":"1978","journal-title":"Am J Obstet Gynecol"},{"key":"e_1_2_1_28_1","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1093\/milmed\/148.2.157","article-title":"Ultrasonic and radiological features of osteogenesis imperfecta congenita. 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