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Common Tips on Communication
Published in Justin C Konje, Complete Revision Guide for MRCOG Part 3, 2020
As most causes are incidental or unknown, it would be difficult to prevent them. However, if it is immune, it is known that if the next pregnancy is affected, this will happen earlier, and hence the baby will be monitored closely much earlier. Furthermore, you will undergo a blood test to check the baby’s blood group to see whether it is incompatible with yours. This will be done early around 10 weeks by a simple blood test (non-invasive prenatal diagnosis or NIPD). In very rare cases, when it is recurrent, pre-implantation genetic diagnosis can be done and an embryo that is not be affected is replaced (IVF followed by testing of the embryo/baby in the laboratory and identifying unaffected ones and putting them back into the womb). Duodenal atresia
Neonatal and General paediatric Surgery
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Plain abdominal x-ray will reveal the ‘double-bubble’ diagnostic of duodenal atresia (Fig. 18.12). In incomplete obstructions, a contrast study may be required to reveal the partial duodenal obstruction.
Major neonatal conditions
Published in Spencer W. Beasley, John Hutson, Mark Stringer, Sebastian K. King, Warwick J. Teague, Paediatric Surgical Diagnosis, 2018
Spencer W. Beasley, John Hutson, Mark Stringer, Sebastian K. King, Warwick J. Teague
There may be respiratory distress, which may have a variety of causes including ineffective ventilation from escape of air down the fistula, diaphragmatic splinting from gaseous abdominal distension, aspiration pneumonia and respiratory distress syndrome of prematurity. Nearly half these babies are premature and there may be a history of maternal polyhydramnios. The diagnosis is made by passing a 10Fr feeding tube through the mouth and observing that it becomes arrested at about 10 cm from the gums. A smaller calibre tube may curl up in the blind-ending upper pouch, giving the false impression of oesophageal continuity. A plain radiograph of the chest and abdomen reveals whether there is a distal tracheo-oesophageal fistula; if present, the fistula allows gas into the stomach, which can be observed on x-ray. Associated congenital abnormalities are sought, particularly those in relation to the VACTERL association (Vertebral, Anal, Cardiac, Tracheo-Esophageal, Renal, Limb). These include imperforate anus, congenital heart disease, urinary tract abnormalities and vertebral and limb abnormalities. There is also an increased incidence of duodenal atresia. About 7% of infants born with oesophageal atresia have a significant chromosomal anomaly.
Delayed development of vacuoles and recanalization in the duodenum: a study in human fetuses to understand susceptibility to duodenal atresia/stenosis
Published in Fetal and Pediatric Pathology, 2022
Xuelai Liu, Yanbiao Song, Peiyu Hao, Xinghai Chen, Jun Zhang, Yandong Wei, Xianghui Xie, Long Li, Zhe-Wu Jin
During fetal development, the vacuoles in the occlusion lumen gradually merge and expand, with cells arising from the walls of the vacuoles changing to mucosal epithelial cells and leaving spaces or cavities in the intestinal tract. This process has suggested that the differential merger and expansion of vacuoles in different intestinal segments during this phase of development result in differences in the extent of recanalization. Because the volumes of intestinal cavities resulting from recanalization during development most likely increase at GA 8-10 weeks, differences in intestinal cavities due to differential recanalization from proximal to distal intestinal segments may occur during this period. To date, however, little is known about differences in merging/expanding vacuoles and recanalization in these intestinal segments. Therefore, we hypothesized that the high frequency of duodenal atresia/stenosis may be caused by disruption of recanalization during this brief gestational period. The relatively slow merger and expansion of vacuoles in the fetal intestinal lumen may result in a “lag time” in recanalization during intestinal lumen development.
CGH Array and Karyotype as Complementary Tools in Prenatal Diagnosis: Prenatal Diagnosis of a 4q Derivative Chromosome from Maternal 4q;11q Translocation
Published in Fetal and Pediatric Pathology, 2018
Cristina Gonzalez, Miriam Gutierrez Serrano, Carmen Barbancho Lopez, Taida Garcia-Riaño, Vanesa Barea Calero, Rebeca Moreno Perea, Begoña Rodriguez Mogollón, Amelia Queipo Rojas, Ana Garcia Climent, Fernando Cava Valenciano
At 28-weeks of gestation the patient was evaluated by the Ethical Review Board for a pregnancy interruption. The parents finally decided not to terminate the pregnancy. Further ultrasound examination showed more anomalies including rough corpus callosum, short neck, myocardial hypertrophy, agenesis of the vein ductus and intrauterine growth restriction. At 37 weeks of pregnancy, a female, 2.180 g weight, Apgar 7/9 and pH 7.20 was delivered. A resuscitation with assisted ventilation was carried out at the Neonatology Unit. The newborn underwent a surgical repair of the duodenal atresia at the first week of life. She presented several anomalies such as marked exophthalmos, pterygium coli, cleft palate, facial hemangiomas, long fingers, feet asymmetry and neurological disorders. She is currently under a multidisciplinary pediatric support with a relatively stable status.
Clinical outcome of pregnancies with the prenatal double bubble sign – a five-year experience from one single centre in mainland China
Published in Journal of Obstetrics and Gynaecology, 2018
The double bubble monicker is mainly associated with duodenal atresia. More than one-half of foetuses with duodenal atresia have associated anomalies. In the previous studies, 30–40 percent of infants with duodenal atresia had trisomy 21 (Jassani et al. 1982; Nicolaides et al. 1992). The majority of patients with duodenal atresia and congenital heart defects have associated trisomy 21 and in patients with duodenal atresia, the presence of trisomy 21 carries a 2.5-fold increased risk of cardiac defect and the same increased risk for repairing a cardiac defect (Keckler et al. 2008). These, however, may have been changed because of the improved prenatal care. Over the last two decades, numerous markers, both sonographic and biochemical, or even molecular markers, in the first or second trimester, have been used for prenatal screening for aneuploidies. An ultrasound scan for the purpose of measurement of NT has a chance for an early diagnosis of major foetal abnormalities. An increased NT itself is a marker for other foetal anomalies, which are particularly difficult to diagnose in first trimester, such as foetal cardiac defects (Bilardo et al. 2010; Alamillo et al. 2012). NT-based early screening programme has long been implemented at our centre. This may explain the very low incidence of trisomy 21 and associated anomalies in the early regular prenatal care subset with a double bubble sign. Contrarily, a high incidence of trisomy 21 and associated structural anomalies, especially cardiac defects, were found in the late prenatal care subset.