The aim of the study was to compare the prenatal sonographic findings and postmortem pathological findings of fetuses with trisomy 21, Of 22,150 fetal chromosome analyses, 207 fetuses with trisomy 21 were diagnosed between 1990 and 2004. Findings of second trimester sonography and fetal autopsy were compared by organ system. 83.1 % of the fetuses had 1 or more abnormal structural findings at post-abortion pathological examination, whereas 16.9% of the cases did not reveal any defects in fetal anatomy. Among major structural defects, the agreement between sonographic- and autopsy findings was more than 60% in case of all abnormalities of the following systems: central nervous system (65.4%), heart (67.4%), fetal hydrops (100%), cystic hygroma (93.3%). However, the concordance rate was lower in abdominal abnormalities (46.2%), renal anomalies (50%), facial abnormalities (1.2%) and extremities (4.4%). The rate of significant additional findings at autopsy was 34.2%. These involved mainly 3 organ systems: heart, head and abdominal anomalies. Some sonographic findings (n = 16) however were not verified at autopsy. The concordance between sonographic and autopsy findings regarding soft markers was considerably high in the following markers: increased nuchal fold thickness (72%), short femur/humerus (75%) and pyelectasia (51.9). Examination of the correlation between sonographic and pathological findings may reveal the possible directions of further development in sonographic screening for trisomy 21. Besides obstetricians, pediatricians and geneticists, specialized perinatal pathologists should have an important role in the multidisciplinary management of prenatally diagnosed fetal malformations.
|Translated title of the contribution||Correlation of prenatal ultrasound diagnosis and pathological findings following induced abortions, in fetuses with trisomy 21|
|Number of pages||9|
|Journal||Magyar Noorvosok Lapja|
|Publication status||Published - Aug 7 2007|
ASJC Scopus subject areas
- Reproductive Medicine
- Obstetrics and Gynaecology