This study was designed to compare the prenatal ultrasound findings and postmortem pathological findings of fetuses with trisomy 18. Of 22, 150 fetal chromosomal analyses, 70 fetuses with trisomy 18 were diagnosed between 1990 and 2004. Sonographic and perinatal autopsy findings were compared by organ systems and their correlation assigned to one of three categories. There were 164 distinct major structural abnormalities found on autopsy. Of these, sonography detected 72 (43.9%). Among major defects the agreement was more than 75% in case of the following structures: central nervous system (80%), abdominal abnormalities (87.5%) and cystic hygroma (100%). Sensitivity of the sonography was less in the following cases: cardiac anomalies (66.6%), facial abnormalities (26.3%), urinary system (27.3%) and extremities (8.7%, 4/46). The rate of additional findings at autopsy was 56.1 % involving mainly 2 organ systems: face (including ear) and extremities (including hands and feet). Some ultrasound findings (n = 15) were not confirmed at autopsy in our series. This study confirms that perinatal autopsy provides additional information in many fetuses with trisomy 18. Besides obstetricians, pediatricians and geneticists, specialized perinatal pathologists have an important role in the multidisciplinary management of the prenatally diagnosed fetal malformations. In addition, examination of the correlation between sonographic and pathological findings may reveal potential markers for the sonographic screening of trisomy 18.
|Translated title of the contribution||Quality control of prenatal sonography in detecting trisomy 18. the value of perinatal autopsy|
|Number of pages||8|
|Journal||Magyar Noorvosok Lapja|
|Publication status||Published - Oct 25 2007|
ASJC Scopus subject areas
- Reproductive Medicine
- Obstetrics and Gynaecology