The fetal gastro-intestinal (GI) tract contributes to alpha-fetoprotein (AFP) levels in amniotic fluid and hence to those in maternal serum (MS). This study retrospectively analysed results of second trimester MSAFP screening in cases of fetal GI tract obstruction. 18 cases of fetal GI obstruction were diagnosed amongst 17,036 women who underwent MSAFP screening between 1979 and 1997: seven had oesophageal atresia, four had duodenal atresia, six had anal atresia, and one had both anal and oesophageal atresia. MSAFP in pregnancies of a fetus with anal atresia was significantly lower than the population median. MSAFP in cases of fetal oesophageal or duodenal atresia was low but these differences did not reach significance.
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http://dx.doi.org/10.1002/(sici)1097-0223(199809)18:9<914::aid-pd376>3.3.co;2-e | DOI Listing |
Curr Issues Mol Biol
January 2025
Unit of Molecular Genetics, Center for Advanced Studies and Technology (CAST), University "Gabriele d'Annunzio" of Chieti-Pescara, 66100 Chieti, Italy.
Background: Anorectal malformations (ARMs) are a common pediatric surgical problem with an incidence of 1:1500 to 1:5000 live births. The phenotypical spectrum extends from anal stenosis to imperforate anus with or without anal fistula to persistent cloaca. They can manifest as either non-syndromic or syndromic conditions.
View Article and Find Full Text PDFObjective: While the association of a syrinx with a tethered spinal cord in the context of VACTERL (vertebral defects [V], imperforate anus or anal atresia [A], cardiac malformations [C], tracheoesophageal defects [T] with or without esophageal atresia [E], renal anomalies [R], and limb defects [L]) association is known, the incidence of idiopathic syrinxes among these patients has not previously been reported. The authors aimed to characterize the incidence of syrinxes and the pattern of congenital anomalies in pediatric patients with VACTERL association, with a specific focus on the presence of idiopathic syrinxes in this population.
Methods: An institutional database was retrospectively queried for all pediatric patients with VACTERL association.
Cureus
December 2024
Family Medicine, Louisiana State University Health Sciences Center, Alexandria, USA.
The VACTERL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities) association represents an enigmatic syndrome requiring further study. This report describes a full-term neonate born to a multiparous woman who was found, upon further examination, to have multiple congenital abnormalities, including a bicuspid aortic valve, patent foramen ovale, tracheoesophageal fistula (TEF), asymmetric crying facies, microphallus, and a single inguinal testis. The discussion explores environmental and genetic factors that may contribute to this association, as well as similar conditions, such as CHARGE (coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear abnormalities) syndrome.
View Article and Find Full Text PDFSurg Neurol Int
December 2024
Department of Neurosurgery, Graduate School of Medical Sciences, Kyushu University, Iizuka, Japan.
Background: Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a rare, life-threatening congenital malformation primarily treated with abdominogenital repair. The optimal indication and timing of neurosurgical interventions for the associated spinal cord lesions remains insufficiently studied. We reviewed spinal dysraphism in OEIS to evaluate the best timing for neurosurgical intervention.
View Article and Find Full Text PDFPediatr Surg Int
December 2024
Department of Pediatric Surgery, Hokkaido Medical Center for Child Health and Rehabilitation, 1-1-240-6, Kanayama, Teine-ku, Sapporo, Hokkaido, 006-0041, Japan.
Purpose: This study aimed to identify surgical site infection (SSI) risk factors after anal reconstruction surgery in patients with anorectal malformations (ARMs).
Methods: This retrospective analysis from January 2013 to December 2022, including all pediatric surgical facilities in Hokkaido, Japan, examined consecutive patients with ARMs, excluding cloacal cases, regarding perioperative and SSI factors during their initial anal reconstruction surgeries.
Results: This study involved 157 cases of major clinical groups and 7 cases of rare/regional variants, among whom 4% developed SSIs.
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