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Titolo:
A correlative study of prenatal ultrasound and post-mortem findings in fetuses and infants with an abnormal karyotype
Autore:
Isaksen, CV; Eik-Nes, SH; Blaas, HG; Torp, SH; van der Hagen, CB; Ormerod, E;
Indirizzi:
Norwegian Univ Sci & Technol, Univ Trondheim Hosp, Dept Lab Med, N-7034 Trondheim, Norway Norwegian Univ Sci & Technol Trondheim Norway N-7034 4 Trondheim, Norway Norwegian Univ Sci & Technol, Univ Trondheim Hosp, Natl Ctr Fetal Med, N-7034 Trondheim, Norway Norwegian Univ Sci & Technol Trondheim Norway N-7034 4 Trondheim, Norway Norwegian Univ Sci & Technol, Univ Trondheim Hosp, Dept Obstet & Gynecol, N-7034 Trondheim, Norway Norwegian Univ Sci & Technol Trondheim Norway N-7034 4 Trondheim, Norway Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Oslo Univ Hosp Oslo NorwayOslo Univ Hosp, Dept Med Genet, Oslo, Norway
Titolo Testata:
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
fascicolo: 1, volume: 16, anno: 2000,
pagine: 37 - 45
SICI:
0960-7692(200007)16:1<37:ACSOPU>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
FETAL NUCHAL-TRANSLUCENCY; FIRST-TRIMESTER; CHROMOSOMAL-ABNORMALITIES; MATERNAL AGE; CARDIAC-MALFORMATIONS; SONOGRAPHIC DETECTION; POSTMORTEM FINDINGS; 4-CHAMBER VIEW; ANOMALIES; TRISOMY-18;
Keywords:
autopsy; chromosome aberrations; congenital anomalies; ultrasonography;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
53
Recensione:
Indirizzi per estratti:
Indirizzo: Isaksen, CV Univ Trondheim Hosp, Dept Pathol, N-7006 Trondheim, Norway Univ Trondheim Hosp Trondheim Norway N-7006 rondheim, Norway
Citazione:
C.V. Isaksen et al., "A correlative study of prenatal ultrasound and post-mortem findings in fetuses and infants with an abnormal karyotype", ULTRASOUN O, 16(1), 2000, pp. 37-45

Abstract

Objective To compare ultrasound and post-mortem findings in 98 fetuses andinfants with an abnormal karyotype. Design Criteria for inclusion were an ultrasound examination at the National Center for Fetal Medicine (NCFM), an abnormal karyotype, and an autopsy performed during the period 1985-94. Results Trisomy 18 and 21 were the two most common abnormal karyotypes. The highest number of congenital anomalies was observed incases with trisomy 13 and 18; congenital heart defects (CHD) were most prevalent among fetuseswith trisomy 18. In 80% of cases there was full agreement between the ultrasound and autopsy findings; in another 8% of cases there was nearly complete concordance. Thus, in 88% of cases, the main prenatal sonographic diagnosis was correct. In 6% major autopsy findings were not detected by ultrasound examination, in 1% none of the autopsy findings were detected by routineultrasound and in 5% ultrasound findings were not verified at autopsy. Where the correlation was related to individual autosomal trisomies, structural anomalies were most often correctly diagnosed in fetuses with trisomy 13,with the main diagnosis correct in all cases; second in accuracy were the ultrasound diagnoses in fetuses with trisomy 21 with the main diagnosis correct in 96%; for trisomy 18 the concordance was less good, with the main diagnosis correct in 71%. Conclusion The present comparison of sonographic diagnoses with post-mortem findings demonstrated good accordance between the two methods. It also demonstrates the importance of awareness of the anomalies known to occur withdifferent aneuploidies.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/09/20 alle ore 16:13:33