Correlation of prenatal ultrasound diagnosis and pathologic findings in fetuses with trisomy 13.
OBJECTIVE
This study was conducted to compare the prenatal ultrasound findings and postmortem pathologic findings of fetuses with trisomy 13.


METHODS
Of 22 150 fetal chromosome analyses, 28 fetuses with trisomy 13 were diagnosed between 1990 and 2004. Findings of second-trimester sonography and subsequent fetal autopsy were compared by organ system, and their correlation was assigned to one of three categories based on the degree of agreement.


RESULTS
Of the total of 79 abnormalities that were found on autopsy, prenatal sonography showed 48 (60.8%). The agreement was more than 75% of all abnormalities of these systems: central nervous system (CNS) (76.5%), facial abnormalities (76.5%), urinary system (81.8%) and fetal hydrops (100%), whereas the sensitivity of sonography was lower in these organ systems: heart (53.3%), extremities (12.5%) and abdominal abnormalities (33.3%). In 39.2% of the cases, autopsy findings were not detected by sonography. These additional findings at autopsy involved mainly three organ systems: heart, face and extremities. Some ultrasound findings (n = 17) were not verified at autopsy; most of them were quantitative markers (mild ventriculomegaly, mild pyelectasis).


CONCLUSIONS
Our results indicate that thorough sonographic examination of the fetal face (including ears) and extremities (including hands and feet) with an extensive use of fetal echocardiography may increase the sensitivity of prenatal sonography in detecting trisomy 13.
Szigeti
Zsanett
Z
First Department of Obstetrics and Gynecology, Semmelweis University Faculty of Medicine, Budapest, Hungary.
Csapó
Zsolt
Z
Joó
József G
JG
Pete
Barbara
B
Papp
Zoltán
Z
Papp
Csaba
C
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D001344:Autopsy / Q000379:methods*; D002882:Chromosomes, Human, Pair 13; D005260:Female; D006801:Humans; D011247:Pregnancy; D015203:Reproducibility of Results; D014314:Trisomy / Q000175:diagnosis*; D016216:Ultrasonography, Prenatal