Document Detail

Correlation of prenatal sonographic diagnosis and morphologic findings of fetal autopsy in fetuses with trisomy 21.
MedLine Citation:
PMID:  17182710     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: The purpose of this study was to compare the prenatal sonographic and postmortem pathologic findings of fetuses with trisomy 21. METHODS: Among 22,150 fetal chromosome analyses, trisomy 21 was diagnosed in 207 fetuses between 1990 and 2004. Findings of second-trimester sonography and fetal autopsy were compared by organ system, and their correlation was assigned to 1 of 3 categories. RESULTS: In total, 83.1% of the 184 fetuses that constituted the final study group had 1 or more abnormal structural findings at postabortion pathologic examination, whereas in 16.9% of the cases, fetal pathologic examination did not reveal any defects in fetal anatomy. Among major structural defects, the agreement between sonographic and autopsy findings was greater than 60% of all abnormalities of these systems: central nervous system (65.4%), heart (67.4%), fetal hydrops (100%), and cystic hygroma (93.3%), whereas the concordance rate was lower in these organ systems: abdominal abnormalities (46.2%), renal anomalies (50%), facial abnormalities (1.2%), and extremities (4.4%). The rate of additional major findings at autopsy was 34.2%. These mainly involved 3 organ systems: heart, head, and abdominal anomalies. Some sonographic findings (n = 16) were not verified at autopsy. The concordances between sonographic and autopsy findings regarding soft markers were considerably high in these markers: increased nuchal fold thickness (72%), short femur/humerus (75%), and pyelectasis (51.9%). CONCLUSIONS: Examining the correlation between sonography and pathologic findings may indicate possible directions of further development in sonographic screening for trisomy 21. In addition to obstetricians, pediatricians, and geneticists, specialized perinatal pathologists have an important role in the multidisciplinary management of prenatally diagnosed fetal malformations.
Zsanett Szigeti; Akos Csaba; Barbara Pete; Júlia Hajdú; Zoltán Papp; Csaba Papp
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine     Volume:  26     ISSN:  0278-4297     ISO Abbreviation:  J Ultrasound Med     Publication Date:  2007 Jan 
Date Detail:
Created Date:  2006-12-21     Completed Date:  2007-03-08     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  8211547     Medline TA:  J Ultrasound Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  61-8; quiz 69-70     Citation Subset:  IM    
First Department of Obstetrics and Gynecology, Semmelweis University, Budapest 1088, Baross utca 27, Hungary.
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MeSH Terms
Abortion, Eugenic
Congenital Abnormalities / ultrasonography
Down Syndrome / pathology,  ultrasonography*
Fetus / pathology*
Pregnancy Trimester, Second
Ultrasonography, Prenatal*

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