scholarly journals Tracheal Agenesis: A Challenging Prenatal Diagnosis—Contribution of Fetal MRI

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Charline Bertholdt ◽  
Estelle Perdriolle-Galet ◽  
Pascale Bach-Segura ◽  
Olivier Morel

Tracheal agenesis is a rare congenital anomaly. The prevalence is less than 1 : 50 000 with a male to female ratio of 2 : 1. This anomaly may be isolated but, in 93% of cases, it is part of polymalformative syndrome. The most evocative diagnosis situation is the ultrasonographic congenital high airway obstruction syndrome. Dilated airways, enlarged lungs with flattened diaphragm, fetal ascites and severe nonimmune hydrops can be observed. In the absence of a congenital high airway obstruction syndrome, the antenatal diagnosis of tracheal agenesis is difficult. Tracheal agenesis should be suspected in the presence of an unexplained polyhydramnios associated with congenital malformations. The fetal airway exploration should then be systematically performed by fetal thoracic magnetic resonance imaging. A case of Floyd’s type II tracheal agenesis, detected during the postnatal period, is reported here. The retrospective reexamination of fetal magnetic resonance images showed that the antenatal diagnosis would have been easy if a systematical examination of upper airways had been performed. Prenatal diagnosis of tracheal agenesis is possible with fetal MRI but the really challenge is to think about this pathology.

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Burcu Artunc Ulkumen ◽  
Halil Gursoy Pala ◽  
Nalan Nese ◽  
Serdar Tarhan ◽  
Yesim Baytur

Congenital high airway obstruction syndrome (CHAOS) is the obstruction of the fetal upper airways, which may be partial or complete. It is usually incompatible with life. Prenatal recognition of the disease is quite important due to the recently described management options. We report here two cases of CHAOS due to tracheal atresia diagnosed by antenatal ultrasonography and fetal MRI. We also briefly review the relevant literature with the associated management options.


1996 ◽  
Vol 84 (2) ◽  
pp. 273-279. ◽  
Author(s):  
Mali Mathru ◽  
Oliver Esch ◽  
John Lang ◽  
Michael E. Herbert ◽  
Gregory Chaljub ◽  
...  

Background Anesthetic agents inhibit the respiratory activity of upper airway muscles more than the diaphragm, creating a potential for narrowing or complete closure of the pharyngeal airway during anesthesia. Because the underlying mechanisms leading to airway obstruction in sleep apnea and during anesthesia are similar, it was hypothesized that anesthesia-induced pharyngeal narrowing could be counteracted by applying nasal continuous positive airway pressure (CPAP). Methods Anesthesia was induced in ten healthy volunteers (aged 25-34 yr) by intravenous administration of propofol in 50-mg increments every 30-s to a maximum of 300 mg. Magnetic resonance images of the upper airway (slice thickness of 5 mm or less) were obtained in the awake state, during propofol anesthesia, and during administration of propofol plus 10 cm nasal CPAP. Results Minimum anteroposterior diameter of the pharynx at the level of the soft palate decreased from 6.6 +/- 2.2 mm (SD) in the awake state to 2.7 +/- 1.5 mm (P < 0.05) during propofol anesthesia and increased to 8.43 +/- 2.5 mm (P < 0.05) after nasal CPAP application. Anteroposterior diameter of the pharynx at the level of the dorsum of the tongue increased from 7.9 +/- 3.5 mm during propofol anesthesia to 12.9 +/- 3.6 mm (P < 0.05) after nasal CPAP. Pharyngeal volume (from the tip of the epiglottis to the tip of the soft palate, assuming this space to be a truncated cone) significantly increased from 2,437 +/- 1,008 mm3 during propofol anesthesia to 5,847 +/- 2,827 mm3 (P < 0.05) after nasal CPAP application. Conclusions In contrast to the traditional view that relaxation of the tongue causes airway obstruction, this study suggests that airway closure occurs at the level of the soft palate. Application of nasal CPAP can counteract an anesthesia-induced pharyngeal narrowing by functioning as a pneumatic splint. This is supported by the observed reduction in anteroposterior diameter at the level of the soft palate during propofol anesthesia and the subsequent increase in this measurement during nasal CPAP application.


2020 ◽  
Vol 77 (10) ◽  
pp. 1093-1096
Author(s):  
Katarina Koprivsek ◽  
Mladen Bjelan ◽  
Milos Lucic ◽  
Dejan Kostic ◽  
Olivera Sveljo ◽  
...  

Introduction. Joubert syndrome (JS) and related disorders (JSRD) are a group of rare multiple congenital anomalies syndromes, defined by complex midbrain-hindbrain malformation that creates the ?molar tooth sign? (MTS) on brain imaging and may be associated with multisystem organ pathology, mainly of the retina, kidney, liver and skeleton. Prenatal diagnosis of JSRD has proved difficult because of the rarity of the condition and low sensitivity of ultrasound in evaluation of the fetal posterior fossa (PF) in most affected fetuses. Case report. We presented an unusual case of JSRD, pure Joubert syndrome with unilateral frontal polymicrogyria and supratentorial white matter microcysts, diagnosed by magnetic resonance imaging (MRI), in fetus aged 30 gestational weeks. The distinctive MRI features of this rare ciliopathy were confirmed by 6-months postnatal MRI study. The postnatal outcome was poor; clinical follow- up in the first 6 months of life confirmed hypotonia, developmental delay, oculomotor apraxia and seizures. Conclusion. To the best of our knowledge, fetal MRI features of the coexistence of pure JS and supratentorial abnormalities leading to postnatal cerebellar dysfunction and epilepsy, have never been reported before. Presented case may contribute to the broadening of the spectrum of sparse prenatal features of JRSD, and support the stand that presence of neuronal migration abnormalities can affect the clinical outcome and prognosis of fetuses with JSRD.


Thorax ◽  
2017 ◽  
Vol 73 (7) ◽  
pp. 686-688
Author(s):  
Katharine Jamieson ◽  
Stephanie Boyd ◽  
Susern Tan ◽  
Davina Wong ◽  
Paul James ◽  
...  

Tracheal agenesis (TA) is a rare congenital defect consisting of complete or partial absence of the trachea below the larynx. Antenatal diagnosis is challenging, and most cases are detected in the postnatal period. Airway management of such cases, particularly in the absence of antenatal diagnosis, can be challenging. Various methods of management have been described but with limited success, and overall prognosis remains very poor. We present an unexpected case of TA, highlighting management issues and diagnostic methods.


2014 ◽  
Vol 3 (2) ◽  
Author(s):  
Bilge Cetinkaya Demir ◽  
Naile Bolca Topal ◽  
Esra Şahin Güneş ◽  
Zeynep Yazıcı ◽  
Ulviye Yalçınkaya

AbstractUmbilical cord teratomas are rare tumoral lesions of umbilical cord which have challenging antenatal diagnosis. The cord teratomas contain tissue from all three germ layers and have both cystic and solid components. This ultrasonographic appearance may help the clinician to clarify the correct diagnosis. We report a case of cord teratoma diagnosed prenatally by ultrasonography and magnetic resonance imaging. Since cord teratomas may lead to adverse fetal outcomes, close follow-up of the fetus is recommended.


1988 ◽  
Vol 64 (3) ◽  
pp. 1285-1288 ◽  
Author(s):  
G. Liistro ◽  
D. Stanescu ◽  
G. Dooms ◽  
D. Rodenstein ◽  
C. Veriter

We measured in healthy volunteers airway resistance (R(aw)), resistance of the respiratory system (Rrs), and supralaryngeal resistance (Rsl) in the following head positions: neutral, extended, and partially and fully flexed. Sagittal magnetic resonance images of the upper airways were recorded in neutral and flexed head positions. We observed significant increases in Raw (P less than 0.01), Rrs (P less than 0.001), and Rsl (P less than 0.001) in the flexed position, with respect to the neutral one, and corresponding decreases of specific airway and specific respiratory conductances. Resistances decreased (although not significantly) when the subjects' heads were extended. A decrease in both diameter and surface area of the hypopharyngeal airways (as shown by magnetic resonance images) with total head flexion was accompanied by significant increases in all measured resistances. Changes in the caliber of hypopharynx appear to be responsible for the increase in resistance during head flexion.


Medicina ◽  
2021 ◽  
Vol 57 (11) ◽  
pp. 1253
Author(s):  
Tiberiu Georgescu ◽  
Viorica Radoi ◽  
Micaela Radulescu ◽  
Aurora Ilian ◽  
Oana Daniela Toader ◽  
...  

Tracheal atresia is an extremely rare condition whereby a partial or total obstruction of the trachea is seen. It is almost always lethal, with just a handful of cases that ended with a good outcome. 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.


Author(s):  
M.J. Hennessy ◽  
E. Kwok

Much progress in nuclear magnetic resonance microscope has been made in the last few years as a result of improved instrumentation and techniques being made available through basic research in magnetic resonance imaging (MRI) technologies for medicine. Nuclear magnetic resonance (NMR) was first observed in the hydrogen nucleus in water by Bloch, Purcell and Pound over 40 years ago. Today, in medicine, virtually all commercial MRI scans are made of water bound in tissue. This is also true for NMR microscopy, which has focussed mainly on biological applications. The reason water is the favored molecule for NMR is because water is,the most abundant molecule in biology. It is also the most NMR sensitive having the largest nuclear magnetic moment and having reasonable room temperature relaxation times (from 10 ms to 3 sec). The contrast seen in magnetic resonance images is due mostly to distribution of water relaxation times in sample which are extremely sensitive to the local environment.


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