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Introduction to the clinical stations
Published in Sukhpreet Singh Dubb, Core Surgical Training Interviews, 2020
Given the age and examination findings of this child, my primary diagnosis would be an umbilical hernia. I would confirm this by performing a full clinical examination of the abdomen. Other possibilities are limited, although an epigastric hernia would present similarly at the upper abdomen, however defects can be multiple. An omphalocele is seen at birth, and involves the protrusion of the abdominal contents through an umbilical defect with a thin layer of amnion externally, and peritoneum internally.
Beckwith–Wiedemann Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Jirat Chenbhanich, Sirisak Chanprasert, Wisit Cheungpasitporn
If the molecular defect is unknown, prenatal surveillance as in all high-risk pregnancies should be employed, including fetal anatomy survey, nuchal translucency measurement, and biochemical testing during the late first trimester, and detailed ultrasound at 18–20 weeks’ and again at 25–32 weeks’ gestation. Increased free beta-human chorionic gonadotropin in the first trimester [70] and alpha-fetoprotein (AFP) in the second trimester [71] have been associated with BWS. Enlarged nuchal translucency and increased first trimester pregnancy-associated plasma protein A (PAPP-A) are associated with fetal macrosomia [72]. At the first trimester scan, omphalocele is usually sonographically detectable. At 19–21 weeks of gestation, abdominal wall defects, macrosomia, and placental hyperplasia may readily present. The prenatal diagnosis of BWS is feasible after 28 weeks of gestation when macroglossia, visceromegaly resulting in increased abdominal circumference, and renal anomalies can be detected [47]. Prenatal diagnosis of BWS should alert obstetricians and neonatologists of its anticipatory complications, especially airway obstruction due to macroglossia and neonatal hypoglycemia.
Virtuous Projects of Social, Structural, and Institutional Reform
Published in Aaron D. Cobb, A Virtue-Based Defense of Perinatal Hospice, 2019
Earlier I noted that families who receive an adverse in utero diagnosis often report feeling unwelcomed by the physicians and institutions from whom they hope to receive care. This was our own experience when dealing with the fetal and maternal health specialists who diagnosed Samuel. Early in the pregnancy, we knew that Sam was facing significant challenges. An ultrasound around thirteen weeks into the pregnancy indicated that he had an omphalocele. Additional testing at seventeen and twenty weeks confirmed that Sam had trisomy 18 along with a range of associated anomalies. The physician informed us that the most likely outcome was in utero demise; if he made it to birth, his life was likely to be very short and significantly difficult. He was not a candidate for active interventions after birth. She noted that we could interrupt the pregnancy; if we chose to continue the pregnancy, she claimed that there was nothing they would be able to do for us. At that point, she left us alone, stating that she would return in a few minutes to receive our decision. In the clinical space of an examination room detached from friends and family, we were left alone to determine what we would like to do.
Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing
Published in Annals of Medicine, 2021
Xiaomei Shi, Hui Tang, Jian Lu, Xiue Yang, Hongke Ding, Jing Wu
Omphalocele is a congenital defect in the abdominal wall characterized by absent abdominal muscles, fascia and skin and is one of the most common types of abdominal wall defects. Omphalocele is easily recognizable on ultrasound examination. Approximately, 50% of cases are associated with multiple malformation syndromes, including cardiac, gastrointestinal, genitourinary, musculoskeletal and central nervous system abnormalities [1]. It has been reported that chromosomal abnormalities are present in 30–70% of cases where omphalocele is accompanied by other malformation syndromes. The most frequent chromosomal anomalies are trisomies 18 and 13, pentalogy of Cantrell and Beckwith–Wiedemann syndrome (BWS), and autosomal dominant and X-linked inheritance [2,3]. Therefore, understanding the genetic abnormalities underlying omphalocele is important for the diagnosis of this disease, which will aid in parental counselling and assist pregnancy management.
Gestational Outcomes of Pregnancies with Prenatally Detected Gastroschisis and Omphalocele
Published in Fetal and Pediatric Pathology, 2019
Fatih Aktoz, Ozgur Ozyuncu, Atakan Tanacan, Erdem Fadiloglu, Canan Unal, Tutku Soyer, Tolga Celik, Mehmet Sinan Beksac
Gastroschisis was defined as the presence of a paraumbilical abdominal wall defect, usually to the right of the midline, with visceral herniation on ultrasound examination. The umbilical cord insertion site adjacent to the defect was normal. The intestines floated freely in the amniotic fluid without a covering membrane. Omphalocele was defined as an upper, middle, or lower midline abdominal wall defect covered by an outer membrane of amnion and an inner membrane of peritoneum containing abdominal contents on ultrasound examination [3, 4]. All omphalocele cases were evaluated in terms of associated syndromes like Pentalogy of Cantrell, amniotic band sequence, schisis association, OEIS syndrome (omphalocele, exstrophy of the bladder, imperforate anus, spinal defects), Shprintzen syndrome, Carpenter syndrome, Goltz syndrome, Marshall-Smith syndrome, Meckel-Gruber syndrome, otopalato-digital type II syndrome, CHARGE (coloboma, heart defect, atresia choanae, restricted growth and development, genital abnormality, and ear abnormality) syndrome, and Beckwith-Wiedemann syndrome (macroglossia, gigantism, omphalocele) [14–16]. A detailed ultrasound examination was performed in order to detect coexisting abnormalities and all cases were evaluated by medical genetics. Suspicious findings for a fetal abdominal wall defect was recorded during the first trimester ultrasound scan of all the cases. However, final diagnosis was confirmed by detailed fetal abnormality screening performed between the 18th and 22nd gestational weeks by an expert perinatologist.
A rare pseudo tumour in the extraembryonic coelom in first trimester of pregnancy: ultrasound and pathology
Published in Journal of Obstetrics and Gynaecology, 2019
Seiji Sumigama, Atsushi Enomoto, Satoshi Matsukawa, Takafumi Ushida, Kenji Imai, Tomoko Nakano, Tomomi Kotani, Fumitaka Kikkawa
There is only one report as to an extraembryonic coelom cystic mass detected on ultrasonography; which ended with a normal full-term delivery (Becker and Nelson 1987). In this case, the foetus had omphalocele and a right limb contracture deformity. Omphalocele at 12 weeks was not physiological but pathological. These abnormalities were characterised in the limb body wall complex (LBWC). The contracture of the membrane in this case was similar to that of the hernia sac of the LBWC, which has an amniotic epithelium on one side and no epithelium on the other (Russo et al. 1993). By these reasons, we also consider that the residual primary yolk sac is possibly related to the pathology of LBWC.