11/52. prenatal diagnosis of occipital encephalocele, mega-cisterna magna, mesomelic shortening, and clubfeet associated with pure tetrasomy 20p.We present the first case of a fetus with pure tetrasomy 20p proven by cord-blood sampling at 24 weeks of gestation. This case was diagnosed in utero with multiple congenital anomalies including occipital encephalocele, mega-cisterna magna, mesomelic shortening, and clubfeet. An analysis of GTG-banded chromosomes of 20 metaphase cells was performed. female karyotype [47,XX, i(20)(p10)] was revealed in all cells. Pure tetrasomy 20p was confirmed using fluorescent in situ hybridization (FISH) with a telomere probe for chromosome 20p in all seven metaphase cells. The pregnancy was terminated because of associated multiple anomalies and severe oligohydramnios. The postmortem examination confirmed the prenatal diagnosis.- - - - - - - - - - ranking = 1keywords = gestation, pregnancy (Clic here for more details about this article) |
12/52. First-trimester diagnosis of osteogenesis imperfecta associated with encephalocele by conventional and three-dimensional ultrasound.To illustrate the three-dimensional sonographic features of a rare genetic disorder, we report on prenatal diagnosis of osteogenesis imperfecta congenita associated with encephalocele at 13 weeks of gestation, using conventional and three-dimensional ultrasound. Because the parents were first-degree cousins and on the basis of the family history, a recessive autosomal inheritance was suspected. Of seven previous pregnancies, five were unaffected and two had been terminated in the second trimester owing to a similar abnormality (one affected boy and one affected girl). In the case we present, the diagnosis was made on the basis of two-dimensional ultrasound performed by physicians aware of the history; the quality of three-dimensional ultrasound imaging suggests that this technique might have contributed toward establishing a precise diagnosis in the absence of a positive family history. Besides, the global view provided by three-dimensional surface-rendering images made the parents more confident of the accuracy of the diagnosis. Although osteogenesis imperfecta congenita is generally considered as autosomal dominant, the case we report suggests that it may be inherited in a recessive autosomal fashion at least when associated with encephalocele. Three-dimensional ultrasound confirmed the conventional two-dimensional examination and was helpful in convincing the parents of the accuracy of the diagnosis.- - - - - - - - - - ranking = 0.85191000333165keywords = gestation (Clic here for more details about this article) |
13/52. Antenatal evaluation of an encephalocele in a dizygotic twin pregnancy using fast magnetic resonance imaging.We report a case of an encephalocele in a dizygotic twin pregnancy, following ovulatory induction. In the involved fetus, an abnormal shadow like an encapsulated-solid tumor located on the occiput was found by routine maternal transabdominal ultrasonography at 17 weeks of gestation. The parents did not accept induced abortion because of the presence of another fetus with no abnormality on ultrasonography. At 35 weeks of gestation, transabdominal ultrasound examination showed a large occipital cyst, composed of protrusive fetal brain and cerebrospinal fluid. Fast-scanning magnetic resonance imaging delineated more clearly the inside of the abnormal lesion and thus allowed confirmation of the putative diagnosis of fetal encephalocele during pregnancy. Surgical report was possible in this case, and the patient had no severe physical or neurological abnormalities 10 months after birth. Since the prognosis appears to depend primarily on how prominent the brain tissue is inside the herniated sac, this approach had benefit for clinical decision making.- - - - - - - - - - ranking = 2.5923599866734keywords = gestation, pregnancy (Clic here for more details about this article) |
14/52. Rostral transfontanel herniation.Upward transtentorial herniation as a result of mass effect in the posterior fossa has been described in adults by several authors. We report the case of a premature infant, small for gestational age, who experienced rostral herniation of a portion of frontal lobe through the anterior fontanel as the result of a hemorrhagic cerebellar infarction followed by a large parieto-occipital intracerebral hemorrhage.- - - - - - - - - - ranking = 0.85191000333165keywords = gestation (Clic here for more details about this article) |
15/52. Iniencephaly. A case report.Prenatal ultrasound diagnosed iniencephaly apertus at 21 weeks' gestation. In this rare central nervous system (CNS) malformation the brain and neck show the main pathologies. Retroflexion of the head with exaggerated cervicothoracic lordosis is always present, and CNS malformations in the form of anencephaly, spina bifida and encephalocele are often present. The ultrasonic diagnosis should be based on the finding of extreme dorsiflexion of the head accompanied by an abnormally short and deformed spine.- - - - - - - - - - ranking = 0.85191000333165keywords = gestation (Clic here for more details about this article) |
16/52. Cystic kidney dysplasia and polydactyly in 3 sibs with bardet-biedl syndrome.Two infants with cystic kidney dysplasia and polydactyly were born to consanguineous parents. One infant died at age 2 months, and the other is currently 3.5 years old. A third pregnancy was terminated following ultrasonographic visualization of large echo-dense fetal kidneys and polydactyly. Although none had apparent brain anomalies, they were considered to represent the Meckel syndrome. Extinguished responses on electroretinography in our 3.5-year-old patient has led to the diagnosis of bardet-biedl syndrome. This observation offers an opportunity to revisit the bardet-biedl syndrome and provides further evidence that structural renal abnormalities are characteristic of the syndrome. We wish to alert the clinician to the diagnosis of Bardet-Biedl syndrome in patients with infantile cystic kidney dysplasia.- - - - - - - - - - ranking = 0.14808999666835keywords = pregnancy (Clic here for more details about this article) |
17/52. Triply discordant triplets: probability, management options, and risks.The spontaneous occurrence of triplets is rare. With increased utilization of "assisted reproductive technologies," multifetal gestations have become more common. The empiric fetal risk for major malformation is approximately 3%. In a triplet pregnancy each fetus independently carries this risk so that the probability of having at least one malformed fetus is approximately 9%. It is much less likely to have 2 or 3 simultaneously but discordantly malformed fetuses in a multizygotic triplet gestation (.09% and .0027% risk, respectively). We report on the first case, to our knowledge, of an ovulation-stimulated triplet pregnancy complicated by 3-way discordance for major malformations diagnosed in the late second trimester by ultrasound. fetus A was affected by congenital diaphragmatic hernia and trisomy 21; fetus B had encephalocele, a midline facial defect, and a cleft palate; and fetus C had evidence of unilateral claw hand but an otherwise normal fetal survey. At 19 weeks of gestation, fetus A was found to have spontaneously died, and a selective termination of triplet B was performed. We conclude: (1) the finding of a single major malformation in one fetus should lead to extensive search for malformations in all members of the pregnancy, and (2) the simultaneous occurrence of major malformations in more than one member of a multifetal gestation is a circumstance under which multiple selective termination deserves consideration. In this article we discuss important issues and caveats in the performance of selective termination for abnormal members of multifetal gestations.- - - - - - - - - - ranking = 4.7038200066633keywords = gestation, pregnancy (Clic here for more details about this article) |
18/52. First-trimester diagnosis of hydrolethalus syndrome in a Chinese family.We report a case resembling hydrolethalus syndrome in a Chinese family. Fetal polydactyly, syndactyly, encephalocele and cardiac malformation were detected on ultrasound examination at 12 weeks' gestation. Termination of pregnancy was performed, and postmortem examination confirmed the findings. This is the first report of a first-trimester prenatal diagnosis of hydrolethalus syndrome in the Chinese population.- - - - - - - - - - ranking = 1keywords = gestation, pregnancy (Clic here for more details about this article) |
19/52. Heminasal proboscis with associated microphthalmos and encephalocele.Heminasal proboscis is a rare congenital malformation that presents complex management issues when associated with other craniofacial abnormalities. A newborn male, known to have a facial mass on prenatal ultrasonography, was delivered by planned induction at 37 weeks' gestation. He was intubated immediately because of anticipated respiratory difficulty. He had a right-sided proboscis, pedicled on the right medial canthal region. Additional airway evaluation identified a piriform aperture and choanal stenosis. magnetic resonance imaging confirmed a hypoplastic orbit with aplastic optic nerve and a naso-orbito-ethmoidal encephalocele. Right upper and lower eyelid colobomas were present. The airway was initially stabilized with a tracheostomy. Beginning at the age of 10 weeks, he underwent several staged procedures to excise the encephalocele and to reconstruct the nose, orbit, eyelid, and lacrimal drainage system. The encephalocele was exposed via a bicoronal approach and frontal craniotomy. The dural defect was repaired with a pericranial flap. Nasal reconstruction provided an adequate nasal passage and tip after three staged procedures.Creation of a conjunctival flap prepared the right eye for later insertion of a prosthetic shell. The patient remained successfully decannulated 3 years after his last reconstructive procedure. Identification of all associated anomalies is important before initiating surgical repair. The presence of coexisting craniofacial abnormalities requires a multispecialty approach and coordination of surgical procedures.- - - - - - - - - - ranking = 0.85191000333165keywords = gestation (Clic here for more details about this article) |
20/52. Concordant occipital encephalocele in monoamniotic twins.Anomalies occur with a greater frequency in twin gestations. Due to its multifactorial inheritance, twins are usually discordant for encephalocele. We present a case of monoamniotic twins concordant for occipital encephalocele and discordant for lung and cord anomalies.Ultrasonographic examination at 17 weeks' gestation revealed occipital encephalocele in both fetuses. The maternal serum level of alpha-fetoprotein was increased. Fetal autopsy revealed occipital encepaholocele in both twins and right pulmonary hypoplasia and one umbilical artery in one sibling. Monoamniotic twins concordant for encephalocele occur with extreme rarity. To the best of our knowledge, monoamniotic twins concordant for this neural tube defect have not been previously reported.- - - - - - - - - - ranking = 1.7038200066633keywords = gestation (Clic here for more details about this article) |
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