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P118The role of fetal echocardiography and detailed sonography in the prenatal diagnosis of trisomy 13 – analysis of 11 cases
Author(s) -
Janiak K.,
Kaczmarek P.,
Krasoń A.,
RespondekLiberska M.
Publication year - 2000
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.2000.00004-1-117.x
Subject(s) - medicine , trisomy , pericardial effusion , fetus , fetal echocardiography , down syndrome , prenatal diagnosis , aneuploidy , pregnancy , obstetrics , genitourinary system , autopsy , retrospective cohort study , cardiology , biochemistry , genetics , chromosome , biology , chemistry , psychiatry , gene
The aim of the study was to show the importance of sonography and echocardiography at 2nd trimester of pregnancy on the ground of the retrospective analysis of cases with Patau syndrome. Materials and methods From the database of 6430 fetuses examined throughout 1992 until 1999, aneuploidy in the form of patau syndrome was suspected in 11 fetuses (0,64%). Maternal, fetal and neonatal data were retrospectively evaluated. Results The majority of cases come from low risk pregnancies. The full genetic antenatal diagnostic was performed in 7 cases. The mean apgar score was 1 and the mortality in analyzed group was 100%. During fetal echocardiography the congenital heart defect were diagnosed in 5 cases: 3xVSD, 1xVSD + aorta dextraposition, 1xVSD + bright spot + cardiomegaly + pericardial effusion. Trisomy 13 in analyzed group manifested by malformations of various organs and systems: congenital heart defects was the most common anomaly diagnosed prenatally (7/11), the second one were central nervous system and genitourinary system anomalies (6/11) and others. In the analyzed group the mean number of anomaly per fetus was 3. Prenatal diagnoses were confirmed at autopsy, additionally cleft palate was identified at 2 cases. Conclusion Fetal detailed sonography and echocardiography in each case of trisomy 13 allows the visualisations of malformations at fetuses (min 1, max 5) and therefore this examination may be consider as ‘genetic sonogram’.