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.
Neural tube defects (NTD) are a heterogeneous group of malformations resulting from failure of normal neural tube closure before the fourth and fifth week of embryologic development. The three most ...common forms of NTD are: anencephaly, encephalocele and spinal dysraphism. Less common forms of neural tube defects include iniencephaly, amniotic bands and other types of spinal abnormalities including scoliosis/cyphosis, sacral agenesis, limb-body wall complex, diastematomyelia. The most part of these abnormalities are accessible to the ultrasound diagnosis in the midtrimester and sometimes even in the late first trimester of the pregnancy. This kind of abnormalities can occur in isolation or in association with other anomalies, which can also be characterized with ultrasound. In this pictorial essay the ultrasonographic aspects of the NTD will be discussed.
Spinal dysraphisms are lesions that can be identified at ultrasound screening examination from the second trimester of pregnancy, the majority being localized in the lumbosacral region. We present ...the case of prenatal ultrasound diagnosis of a 18 weeks fetus with cervical open dysraphism, a rare localization of open spinal dysraphisms. The alteration of cerebral normal anatomy was first identified; further examination showed the spinal defect with cervical location associated with a posterior cystic mass, the meningomyelocele.
Gastroschizisul este un defect congenital relativ frecvent al peretelui abdominal anterior, situat de obicei paraombilical drept, prin care se exteriorizează intestinele şi, ocazional, şi alte ...viscere abdominale, fi ind expuse lichidului amniotic. Anomalia este de obicei izolată. Gastroschizisul izolat are un prognostic excelent, având o rată redusă a morbidităţii şi mortalităţii. Morbiditatea şi mortalitatea perinatală depind de anomaliile intestinale asociate şi de complicaţiile intestinale datorate expunerii viscerelor herniate acţiunii lichidului amniotic. În perioada fetală sunt posibile atât diagnosticul ecografi c al gastroschizisului, cât şi detectarea ecografică a anomaliilor asociate şi monitorizarea ecografică a creşterii fetale.
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