By using angiography we were able to demonstrate the variable anatomy of the anastomosis of Hyrtl. We found the occurrence and width of the anastomosis was correlated to the symmetry in size between the supply areas of each umbilical artery.
Hyrtl's anastomosis is normally developed in placentas from small for gestational age infants.Ullberg, Ulla; Lingman, Göran; Ekman-Ordeberg, Gunvor; Sandstedt, Bengt Link to publication Citation for published version (APA): Ullberg, U., Lingman, G., Ekman-Ordeberg, G., & Sandstedt, B. (2003). Hyrtl's anastomosis is normally developed in placentas from small for gestational age infants. Acta Obstetricia et Gynecologica Scandinavica, 82(8), 716-721. DOI: 10.1034/j.1600-0412.2003 General rights Copyright and moral rights for the publications made accessible in the public portal are retained by the authors and/or other copyright owners and it is a condition of accessing publications that users recognise and abide by the legal requirements associated with these rights.• Users may download and print one copy of any publication from the public portal for the purpose of private study or research.• You may not further distribute the material or use it for any profit-making activity or commercial gain • You may freely distribute the URL identifying the publication in the public portal Background. The aim of this study was to investigate the occurrence and appearance of the anastomosis between the two umbilical arteries in placentas from infants small for gestational age (SGA).Methods. The arterial systems of 64 placentas from singleton pregnancies resulting in SGA infants were visualized by angiography. The method allowed study of the anastomosis between the umbilical arteries and calculation of the relative placental area supplied by each artery. The results were compared with findings in a previous study of appropriate for gestational age (AGA) infants. One-way analysis of variance (ANOVA) and w 2 -analyses were used for statistics.Results. In 56 placentas the anastomosis was represented by a true vessel, in two by a fenestration, and in another two cases by fusion of the umbilical arteries. The anastomosis was absent in one case and another three cases had a single umbilical artery (SUA). When the diameter of the anastomosis was thinner than that of the umbilical arteries, their supply areas were significantly (p 0.001) more symmetrical than in cases with a wider anastomosis. The anatomy of the anastomosis and the relationship between its width and the symmetry between the supply areas of each umbilical artery did not differ in placentas from SGA and AGA infants, despite various types of cord insertion and placentation. Conclusion. Static measurements of Hyrtl's anastomosis do not indicate a contributing part for intrauterine growth retardation.
Background
Intestinal malrotation is a potentially life‐threatening congenital anomaly due to the risk of developing midgut volvulus. The reported incidence is 0.2%–1% and both apparently hereditary and sporadic cases have been reported. Intestinal malrotation is associated with a few syndromes with known genotype but the genetic contribution in isolated intestinal malrotation has not yet been reported. Rare copy number variants (CNVs) have been implicated in many congenital anomalies, and hence we sought to investigate the potential contribution of rare CNVs in intestinal malrotation.
Methods
Analysis of array comparative genomic hybridization (aCGH) data from 47 patients with symptomatic intestinal malrotation was performed.
Results
We identified six rare CNVs in five patients. Five CNVs involved syndrome loci: 7q11.23 microduplication, 16p13.11 microduplication, 18q terminal deletion,
HDAC8
(Cornelia de Lange syndrome type 5 and
FOXF1
) as well as one intragenic deletion in
GALNT14
, not previously implicated in human disease.
Conclusion
In the present study, we identified rare CNVs contributing pathogenic or potentially pathogenic alleles in five patients with syndromic intestinal malrotation, suggesting that CNV screening is indicated in intestinal malrotation with associated malformations or neurological involvements. In addition, we identified intestinal malrotation in two known syndromes (Cornelia de Lange type 5 and 18q terminal deletion syndrome) that has not previously been associated with gastrointestinal malformations.
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