Prenatal Diagnosis and Outcome of Tracheal Agenesis as Part of Congenital High Airway Obstruction Syndrome. Case Presentation and Literature Review

In this study we report on a 15-week male fetus, diagnosed with hyperechogenic lungs, midline heart position and inverted diaphragm. Sonographic findings suggest congenital High Airway Obstruction Syndrome (CHAOS) An ultrasound scan and fetal MRI were not able to point out the exact obstruction level. In spite of extensive counselling, the parents opted to carry on with the pregnancy. Fetal demise was noted on a scan at 19 weeks gestation. After the elective termination of pregnancy, a post-mortem examination showed partial tracheal atresia with no other anomalies. Despite technological progress in CHAOS syndrome, a precise diagnosis and accurate prognosis remain elusive.PMID:34833471 | DOI:10.3390/medicina57111253
Source: Medicina (Kaunas) - Category: Universities & Medical Training Authors: Source Type: research

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In this study we report on a 15-week male fetus, diagnosed with hyperechogenic lungs, midline heart position and inverted diaphragm. Sonographic findings suggest congenital High Airway Obstruction Syndrome (CHAOS) An ultrasound scan and fetal MRI were not able to point out the exact obstruction level. In spite of extensive counselling, the parents opted to carry on with the pregnancy. Fetal demise was noted on a scan at 19 weeks gestation. After the elective termination of pregnancy, a post-mortem examination showed partial tracheal atresia with no other anomalies. Despite technological progress in CHAOS syndrome, a precis...
Source: Medicina (Kaunas) - Category: Universities & Medical Training Authors: Source Type: research
Abstract Anorectal atresia (ARA) is a common congenital anomaly, but prenatal diagnosis is difficult, late, and unspecific. Utilizing a case of a 46 year old primipara with an egg donation In Vitro Fertilization (IVF) pregnancy, diagnosed at the first trimester scan with an anechoic isolated structure, which indicates anal atresia, we performed a systematic literature review in order to evaluate early prenatal ARA diagnosis. A total of 16 cases were reported as first trimester ARA suspicion, and only three had no associated anomalies. The most frequent ultrasound (US) sign was the presence of a cystic, anechoic pe...
Source: Medicina (Kaunas) - Category: Universities & Medical Training Authors: Tags: Medicina (Kaunas) Source Type: research
CONCLUSION: Prenatal diagnosis of EA/TEF is not feasible in early pregnancy. A small/absent stomach may be visualized as early as 15 weeks of gestation. Polyhydramnios does not develop before mid-trimester. An esophageal pouch can be detected as early as 22 weeks, on a targeted scan, in suspected cases. The detection rate of all 3 signs increases with advancing pregnancy, peaking at the third trimester. The early and mid-trimester anomaly scans perform poorly as a screening and diagnostic exam for EA/TEF. This article is protected by copyright. All rights reserved. PMID: 32304613 [PubMed - as supplied by publisher]
Source: The Ultrasound Review of Obstetrics and Gynecology - Category: Radiology Authors: Tags: Ultrasound Obstet Gynecol Source Type: research
We present a case of fetal tricuspid valve dysplasia (TVD) and pulmonary atresia, diagnosed during a routine obstetric ultrasound scan. Serial fetal echocardiographic evaluations revealed progressively augmented prodigious thickening of the tricuspid valvular and subvalvular structures, which eventually extensively obliterated the right ventricle cavity. Thickened dysplastic valve displayed a “cotton-wool” appearance. Unusual configurations of three vessels in the three-vessel view were also observed on a consecutive gray scale and color Doppler scans. During pregnancy, the fetus exhibited satisfactory growth p...
Source: Indian Journal of Radiology and Imaging - Category: Radiology Authors: Source Type: research
Abstract OBJECTIVE: To examine the performance of the routine 11-13 weeks scan in detecting fetal non-chromosomal abnormalities. METHODS: This was a retrospective study of prospectively collected data from 100,997 singleton pregnancies attending for a routine ultrasound examination for fetal anatomy, according to a standardized protocol, at 11-13 weeks' gestation. All continuing pregnancies had an additional scan at 18-24 weeks and 71,754 had a scan at either 30-34 or 35-37 weeks. The final diagnosis of fetal abnormalities was based on the results of postnatal examination in the case of livebirths and on the ...
Source: The Ultrasound Review of Obstetrics and Gynecology - Category: Radiology Authors: Tags: Ultrasound Obstet Gynecol Source Type: research
CONCLUSION: In cases with persistent NVFGB, the risk of a severe postnatal condition should be considered. A detailed ultrasound scan should be offered and parents tested for cystic fibrosis. Invasive procedure for karyotyping, and liver enzymes concentrations before 22 weeks constitutes a reasonable work-up. This article is protected by copyright. All rights reserved. PMID: 30809885 [PubMed - as supplied by publisher]
Source: The Ultrasound Review of Obstetrics and Gynecology - Category: Radiology Authors: Tags: Ultrasound Obstet Gynecol Source Type: research
I remember it like yesterday. Pregnant with my first child, I went to my 9-week scheduled ultrasound not really knowing what to expect. I heard a little baby’s heartbeat in my belly! I was blown away. When you go for your 18-week ultrasound, make sure your baby’s heart is checked. A simple scan can change everything. ~ Elizabeth At the 18-week scan, it appeared that the baby only had one kidney. The doctor seemed to think that everything else was normal, but he told me I had the option to make an appointment at Boston Children’s Hospital for a fetal echocardiogram. My husband had to work that da...
Source: Thrive, Children's Hospital Boston - Category: Pediatrics Authors: Tags: Diseases & Conditions Our Patients’ Stories Andrew Powell Fetal Cardiology Program Francis Fynn-Thompson Heart Center Pulmonary atresia Tetralogy of Fallot tetralogy of Fallot with pulmonary atresia ultrasound Source Type: news
Conclusion: Cases of nonvisualized gallbladder after 22 weeks have rarely been reported in the literature. Until now, no standard management has been proposed. Our cases support the potential usefulness of fetal blood digestive enzymes.Fetal Diagn Ther
Source: Fetal Diagnosis and Therapy - Category: Perinatology & Neonatology Source Type: research
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