[28] Single Umbilical Artery with Congenital Anomalies. A Study of Perinatal Autopsies and Placentas

M Lee, J-H Jo, K-R Kim, E-J Seo, H-S Won, Y Lee. University of Ulsan College of Medicine, Asan Medical Center, Seoul, Republic of Korea; University of Ulsan College of Medicine, Asan Medical Center, Seoul, Portugal

Background: Single umbilical artery(SUA) is a common umbilical cord malformation recognized as a marker for searching other fetal malformations. The aim of this study is to determine the frequency of SUA and survey malformations with SUA and reevaluate the significance of SUA.
Design: A retrospective study was performed based on the medical records and karyotype studies from 1996 to 2009 of patients that underwent perinatal autopsy and pathologically examined placentas submitted at the department of pathology, Asan Medical Center, Seoul, Korea.
Results: During the length of the study, 1,048 perinatal autopsies and 9,313 placenta cases were submitted and analyzed. The average gestational age is 22 + 6/7 weeks. There were 222/10,361 cases (2.1%) of SUA. The number of SUA with anomalies was 148/222 cases (66.7%). The highest association of SUA with malformation was found for cardiovascular malformations. Regarding the individual types of malformation, SUA was most commonly associated with ventricular septal defect, atrial septal defect, tetralogy of Fallot, hypoplastic left ventricle, imperforate anus, omphalocele, pulmonary abnormalities (hypoplasia, abnormal lobation and agenesis), renal cystic dysplasia or agenesis, scoliosis, limb malformation. Karyotypic analysis was performed only in 51/75 autopsy proven cases of SUA with anomalies. There are 15/51 cases (29.4%) of karyotypic abnormality ; four cases (26.6%) were trisomy 18, three cases (20%) were trisomy 13 and 8 cases (53.4%) were other chromosomal aberrations (3 cases of 46XY, inv(9)(p12q13), each one case of 46XX, add(16)(p13.3), 47XX, t(8;9)(p21.3;q31)mat, 46X, der(X;14)(q10;q10)+i(X)(q10), 47XX,+der(12)t(11;22)(q23.3;q11.2)mat, 46 del (6)(q26)).
Conclusions: SUA is a common malformation that we may call attention to the possibility of associated anomalies. Relatively high incidence of chromosomal aberration in this survey could be a supportive data to recommend to perform karyotyping in cases of SUA with anomalies.
Category: Autopsy

Wednesday, March 24, 2010 9:30 AM

Poster Session V # 25, Wednesday Morning

 

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