Objectives: This study describes the prenatal diagnosis of body stalk anomaly (BSA) in a large series of affected pregnancies and proposes an algorithm for the differential diagnosis of abdominal wall defects in the first trimester. Methods: This was a retrospective study of all the cases of BSA diagnosed in our tertiary unit between 2009 and 2015. In all cases, we performed a detailed ultrasound examination with particular emphasis on the appearance of the amniotic membrane and content of the amniotic sac and the coelomic cavity. Results: The study included 17 cases of BSA (15 singleton pregnancies, one dichorionic-diamniotic twin pregnancy discordant for BSA and one case of conjoined twins) at a median gestational age of 12+3 (range 11+0 to 16+6) weeks. In all cases, the liver and bowel were herniated into the coelomic cavity and the amniotic sac was intact containing the rest of the fetus with a normal amount of amniotic fluid; additionally, there was severe kyphoscoliosis and positional abnormalities of the lower limbs. The umbilical cord was absent, but umbilical vessels were seen with color Doppler running from the placenta to the fetus marginally to the eviscerated abdominal content. Conclusion: BSA can be easily diagnosed from 11 weeks' gestation. Examination of the amniotic membrane continuity, content of both the amniotic sac and coelomic cavity and a short umbilical cord help in differentiating this condition from other abdominal wall defects.
Results: A total of 77 fetuses with isolated left-sided CDH were analysed. The LHR, US-LiTR and SP (according to Cordier classifications) were significantly associated with both mortality ([AUC: 0.86, [AUC: 0.77, and [AUC: 0.74,). Significant correlations were observed between all these ultrasound parameters. The combination of LHR with the US-LiTR and with the SP statistically improved the prediction of mortality ([AUC: 0.86, Methods: This is a retrospective cohort study of all infants diagnosed with an abdominal wall defect within the entire cohort of births that occured within the United States between 2010 and 2012. The criteria for inclusion were birth between 32 and 42 weeks. Exclusion criteria were multiple births and delivery prior to 32 weeks or after 42 weeks. There were 11,349,000 births during this period that met inclusion criteria. Binomial proportions were derived to establish stillbirth rates per 10,000 births and neonatal demise rates per 10,00 livebirths. The stillbirth risk was calculated as the number of stillbirths per ongoing pregnancies at each week of gestation. The risk of expectant management was calculated as the sum of risk of stillbirth for the corresponding week plus the risk of neonatal demise corresponding to the following week of gestation. Results: The binomial proportions for neonatal demise per week of gestation compared with the risk of expectant management with delivery at the subsequent week of gestation are shown in figure 1. Expectant management did not improve outcomes after 37 weeks. Conclusions: In the absence of individual variations in fetal surveillance, this large US cohort study supports delivery of infants with abdominal wall defects at 38 weeks of gestation. The limitation is that the data do not allow for distinction between gastroschisis and omphalocele.Supporting information can be found in the online version of this abstract Methods: Retrospective case analysis was performed of all pregnancies that were prenatally diagnosed in our unit with an omphalocele between 2009-14. Pregnancies outcomes were obtained by postnatal telephone questionnaire and review of hospital notes. Results: Out of a total of 70 pregnancies with omphalocele, group A had 39 (56%) and group B had 31 (44%) cases. Spontaneous resolution of omphalocele was seen in 10/39 (26%) fetuses without liver herniation. No cases resolved when the liver was herniated. Fetal karyotyping was performed in 27/29 (93%) cases in A and 27/31 (87%) in B. Abnormal karyotype was seen 16/27 (59%) in group A and 3/27 (11%) in group B.In 16 group A fetuses with abnormal karyotype: 12 pregnancies were terminated, 3 fetus had IUD (intrauterine death), 1 fetus was live born (LB). In 11 euploid fetuses: 3 had termination and 8 were LB. In group A there were no neonatal deaths (NND), average length of hospital stay was 17 days and average number of surgeries for complete closure were 2 (1 to 6).All pregnancies with aneuploidy in group B were terminated (3/3). In 24 euploid pregnancies with liver herniation, 9 were termi...
Objectives:To evaluate the clinical utility of first trimester screening and cell free DNA (cfDNA) analysis among women who opted for concurrent testing with both modalities. Methods: Prenatal screening results were collected from all women with a singleton gestation who underwent concurrent testing with cfDNA and a first trimester combined test (nuchal translucency measurement, PAPP-A and free beta hCG) on the same date from 2012 to 2015 at a single institution. Concurrent testing was available to women with an nuchal translucency (NT) measurement > 3 mm or other ultrasound abnormality at the time of NT assessment and to those with a personal or family history placing the pregnancy at increased risk for aneuploidy. The incidence of discrepant results based on indication was compared using chi-square. Results: Concurrent testing was performed in 83 pregnancies. Women who underwent concurrent testing in the setting of an increased NT or other first trimester ultrasound abnormality were more likely to have discrepant findings than women who underwent concurrent testing for other indications (66% versus 11%, p < 0.001). Of the 33 pregnancies with a positive screen on first trimester testing and normal cfDNA result, three underwent diagnostic testing. Of these, two fetuses had anatomic abnormalities on second trimester ultrasound; one was found to have Trisomy 18 and the other had a normal microarray. A third patient underwent CVS in addition to concurrent testing and was found to have a normal karyotype. No other women pursued diagnostic testing. Conclusions: Women with an abnormal first trimester ultrasound who decline diagnostic testing may find concurrent testing with cfDNA and first trimester screening informative, as these results are frequently discrepant. For those who are at increased risk for aneuploidy based on history alone, the addition of cfDNA was generally not informative, as both tests usually indicated a low risk. Further research is needed to understand patient preferences and clinical utility of concurrent testing based on the clinical scenario. Objectives: Body stalk anomaly (BSA) is a severe ventral abdominal wall defect. We report our experience with prenatal diagnosis and management of BSA in a large series of singleton and multiple pregnancies. Methods: This is a retrospective study of all the cases of BSA diagnosed in our tertiary unit between 2009 and 2015. For the cases referred at 11-13 + 6 weeks, a detailed early pregnancy anomaly scan was performed. For cases referred thereafter, biometry and an anomaly scan were performed. In addition, colour Doppler and 3D ultrasonography were used in all cases. Particular attention was paid to the appearance of the amniotic membrane, to the content of the amniotic sac and the extracoelomic cavity. Results: 17 pregnancies with BSA (15 singleton and 2 multiple, one DCDA with an affected fetus and one conjoined twins with body stalk anomaly) were included. Fourteen (83%) were referred in the first trimester (11-13 + 6 weeks) and three (17%) in the earl...
A 19-year-old healthy bodybuilder presented to the emergency department with gradually worsening pain in both his upper arms and shoulders and inability to fully flex his elbows. The haematological investigations revealed a markedly raised Creatinine Kinase (74,400 U/L) and myoglobinuria. The patient required an emergency surgical decompression of the pectoral and the anterior and posterior compartments of arms of both upper limbs with secondary closure after 48 h. The patient had an uneventful post-op and recovery of his functions with some initial restriction of full flexion of his left elbow and some weakness in his triceps, all of which gradually improved.
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