Prenatal diagnosis chromosomal abnormalities of fetal congenital heart defects related to the process of septum formation in the truncus arteriosus - bulbus cordis
H N. B., H T. N. T., , 2020, In: Journal of Obstetrics and Gynecology
Overview
Abstract:
Abstract
Objectives:
To describe congenital heart defects related to the process of septum formation in the truncus arteriosus
- conus cordis and result of chromosome analysis.
Materials and Methods:
cross-sectional description of 109 pregnancies diagnosed with congenital heart defects relat
-
ed to the process of septum formation in the truncus arteriosus and conus cordis on ultrasound. Amniocentesis fluid
was analyzed by the BoBs and Karyotyping technique for evaluating fetal chromosomes.
Results:
Types of congenital heart defects related to the process of septum formation in the truncus arteriosus and
conus cordis included: Tetralogy of Fallot (63/109 - 57.8%), transposition of the great vessels (18/109 - 16.5%), pulmo
-
nary stenosis (10/109 - 9.2%), double outlet right ventricular (5/109 - 4.6%), truncus arteriosus (2/109 - 1.8%) and the
others abnormalities related to the aorta, left ventricle (11/109 - 10.1%). The rate of aneuploidy was 33/109 (30.3%), the
numerical abnormalities were 14/33 cases and
structural abnormalities
were 19/33 (13 cases of DiGeorge syndrome).
The group with abnormal other organ coordination other than the heart was at risk of abnormal chromosomes 7,3
times higher than the group showing abnormal heart only, OR = 7.3 (2.6; 20.5), p = 0.0002.
Conclusions:
The types of congenital heart defects associated with the process of septum formation in the truncus
arteriosus and conus cordis are severe abnormalities, abnormal fetuses in this group of malformations account for a
high proportion, of which DiGeorge syndrome accounts for the majority.
Keyword(s): Heart Defects, Congenital; DiGeorge Syndrome; Truncus Arteriosus; Chromosome Aberrations; Tetralogy of Fallot
| Journal | Journal of Obstetrics and Gynecology |
| Publication status | Published - 2020 |
| ISBN | 1859-3844 |