scholarly journals A Prenatally AscertainedDe NovoTerminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Carolina Sismani ◽  
Georgia Christopoulou ◽  
Angelos Alexandrou ◽  
Paola Evangelidou ◽  
Jacqueline Donoghue ◽  
...  
Keyword(s):  
Genetic Basis ◽  
Umbilical Artery ◽  
Congenital Abnormalities ◽  
Chromosome 1 ◽  
Terminal Deletion ◽  
Deletion Syndrome ◽  
Single Umbilical Artery ◽  
Female Fetus ◽  
Pierre Robin ◽  
Chromosomal Bands

Terminal deletions in the long arm of chromosome 1 result in a postnatally recognizable disorder described as 1q43q44 deletion syndrome. The size of the deletions and the resulting phenotype varies among patients. However, some features are common among patients as the chromosomal regions included in the deletions. In the present case, ultrasonography at 22 weeks of gestation revealed choroid plexus cysts (CPCs) and a single umbilical artery (SUA) and therefore amniocentesis was performed. Chromosomal analysis revealed a possible terminal deletion in 1q and high resolution array CGH confirmed the terminal 1q43q44 deletion and estimated the size to be approximately 8 Mb. Following termination of pregnancy, performance of fetopsy allowed further clinical characterization. We report here a prenatal case with the smallest pure terminal 1q43q44 deletion, that has been molecularly and phenotypically characterized. In addition, to our knowledge this is the first prenatal case reported with 1q13q44 terminal deletion and Pierre-Robin sequence (PRS). Our findings combined with review data from the literature show the complexity of the genetic basis of the associated syndrome.

The Single Umbilical Artery and What it Means

1973 ◽  
Vol 12 (6) ◽  
pp. 367-371
Author(s):  
Charles F. Johnson
Keyword(s):  
High Risk ◽  
Death Rate ◽  
Umbilical Artery ◽  
Congenital Abnormalities ◽  
Initial Examination ◽  
High Risk Infant ◽  
Single Umbilical Artery ◽  
High Death Rate ◽  
Infancy And Childhood ◽  
High Death

The infant born with an SUA is a high-risk infant and should be treated accordingly immediately after delivery. The variety and multiplicity of congenital abnormalities associated with this finding call for a very thorough initial examination, continued close scrutiny throughout infancy and childhood, and prompt investigation of any developing symptoms or abnormalities. It is likely that the high death rate associated with the SUA could be lowered if steps are taken to uncover and correct such subtle abnormalities before they stir up difficulties.

A case of a four-vessel umbilical cord: don’t stop counting at three!

2012 ◽  
Vol 1 (1-2) ◽  
Author(s):  
Geneviève Donata Koolhaas ◽  
Martine Helene Hollander ◽  
Harry Molendijk
Keyword(s):  
Umbilical Cord ◽  
Umbilical Artery ◽  
Congenital Abnormalities ◽  
Umbilical Vein ◽  
Daily Practice ◽  
Congenital Defects ◽  
Ultrasound Screening ◽  
Single Umbilical Artery ◽  
Antenatal Ultrasound ◽  
Substantial Morbidity

AbstractThere are various numerical abnormalities of umbilical cord vessels known in the literature, the single umbilical artery being the most prevalent. A four-vessel umbilical cord is found less frequently, and moreover, is less well-known in daily practice. A persistent right umbilical vein, however, can be associated with potentially serious congenital defects. A case of a four-vessel umbilical cord containing two arteries and two veins is presented. The literature on this subject reports both a differentiation between the two variants, intrahepatic and extrahepatic, which can be distinguished during antenatal ultrasound screening, and a possible association with congenital abnormalities, some of which can carry substantial morbidity and mortality. Although the incidence of a four-vessel umbilical cord is low, its presence should be considered both during routine antenatal ultrasound screening and on physical examination of any neonate.

scholarly journals OP13.10: Perinatal outcome of 127 consecutive fetuses with single umbilical artery

2008 ◽  
Vol 32 (3) ◽  
pp. 353-353
Author(s):  
F. Vinals ◽  
S. Diaz ◽  
R. Naveas ◽  
A. Giuliano
Keyword(s):  
Perinatal Outcome ◽  
Umbilical Artery ◽  
Single Umbilical Artery

Explanation of Perinatal Mortality Rate in Collaborative Study

PEDIATRICS ◽  
1973 ◽  
Vol 52 (6) ◽  
pp. 891-891
Author(s):  
Arnold S. Goldstein ◽  
Henry H. Mangurten
Keyword(s):  
Mortality Rate ◽  
Perinatal Mortality ◽  
Umbilical Artery ◽  
Collaborative Study ◽  
The United States ◽  
Mortality Rates ◽  
Single Umbilical Artery ◽  
Neonatal Deaths ◽  
General Mortality ◽  
Future Management

The article by Froehlich and Fujikura1 on the prognosis of single umbilical artery is a much needed and highly informative addition to the literature. It presents a great deal of information and some important implications as to future management. We question the mortality rates quoted. They are given as percentages, and include stillbirths and neonatal deaths, i.e., perinatal mortality. The figure given as the general mortality rate is 3.8% or 38 per 1,000 births. Previous figures cited for perinatal mortality in the United States have varied from approximately 19 per 1,000 to approximately 26 per 1,000.2-4 We wonder how the figure of 38 per 1,000 was determined.

EFFECTS OF SINGLE UMBILICAL ARTERY LIGATION IN THE LAMB FETUS

1969 ◽  
Vol 24 (8) ◽  
pp. 1068-1070 ◽  
Author(s):  
GEORGE C. EMMANOUILIDES ◽  
DUANE E. TOWNSEND ◽  
ROBERT A. BAUER
Keyword(s):  
Umbilical Artery ◽  
Single Umbilical Artery ◽  
Artery Ligation
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