1/42. Iniencephaly: prenatal diagnosis and management.Iniencephaly is a rare malformation characterized by the triad of occipital bone defect, cervical dysraphism and fixed retroflexion of the fetal head. Because of its almost invariable lethal prognosis, termination of pregnancy is commonplace when this condition is diagnosed before viability. In this report we describe eight cases of iniencephaly prenatally diagnosed by ultrasound between 18 and 28 weeks of gestation and discuss the subsequent obstetric management in a country where elective abortion is illegal. Prenatal karyotyping was performed in seven cases, revealing a normal complement in all fetuses. One pregnancy miscarried at 24 weeks. Uneventful vaginal delivery was accomplished in six of the remaining seven cases, one delivered spontaneously at 29 weeks and five were induced between 28-32 weeks due to increasing polyhydramnios. In the remaining case the pregnancy progressed to 35 weeks, at which time spontaneous labour began and an emergency Caesarean section was performed because of malpresentation. There were no survivors in this series. We conclude that, in countries were elective abortion is not allowed, women carrying an iniencephalic fetus may benefit from preterm induction of labour in order to avoid labour dystocia, maternal trauma during delivery and the risks of a Caesarean section.- - - - - - - - - - ranking = 1keywords = gestation, pregnancy (Clic here for more details about this article) |
2/42. Prenatal ultrasound evaluation of fetal diastematomyelia: two cases of type I split cord malformation.Isolated diastematomyelia is a rare form of spinal dysraphism characterized by a sagittal cleft in the spinal cord, conus medullaris and/or filum terminale with splaying of the posterior vertebral elements. This condition is the result of the presence of an osseous or fibrocartilaginous septum producing a complete or incomplete sagittal division of the spinal cord into two hemicords. It may be isolated or associated with other segmental anomalies of the vertebral bodies. prenatal diagnosis of this anomaly is possible in the early midtrimester by sonography, thus allowing for early surgical intervention and a favorable prognosis. Two cases of fetal diastematomyelia diagnosed by prenatal sonography are presented, each demonstrating the typical sonographic features diagnostic of this condition. The first case, detected at 28 weeks' gestation, presented with disorganization of the bony processes of the vertebral column with a midline echogenic focus. The second fetus, diagnosed at 17 weeks' gestation, had a similar appearance with widening of the posterior elements and the presence of a midline echogenic bony spur. Postnatally, both infants underwent magnetic resonance imaging for a definitive diagnosis. Surgical repair of the defect was performed in the neonatal period in both cases.- - - - - - - - - - ranking = 1.0729823081208keywords = gestation (Clic here for more details about this article) |
3/42. Sonographic diagnosis of exencephaly: omphalocele at 11 weeks of gestation.This report presents a sonographic diagnosis of exencephaly combined with omphalocele at 11 weeks of gestation. The transvaginal ultrasound showed frog-eye appearance face with no skull, abnormal shape of disorganized brain with covering membrane separated from brain mass by anechoic fluid in some area, and omphalocele of 8 mm diameter. Therapeutic abortion was successfully done with misoprostol. Postabortal macroscopic findings confirmed the prenatal diagnosis. The combination of exencephaly and omphalocele is rare, and this is one of the earliest diagnosis of not only exencephaly but also omphalocele. To our best knowledge, this represents the earliest diagnosis of the combination. In conclusion, transvaginal ultrasound proved highly informative for both exencephaly and omphalocele as early as in first trimester.- - - - - - - - - - ranking = 2.6824557703021keywords = gestation (Clic here for more details about this article) |
4/42. Sonographic markers of exencephaly at 9 3 weeks of gestation.Following the introduction of transvaginal sonography, several first trimester diagnoses of the exencephaly anencephaly sequence have been reported, with the earliest being described at 10 weeks of gestation. We report a case with a high index of suspicion for exencephaly at 9 weeks and 3 days because of three sonographic features: the cranial pole of the embryo was smaller than the chest, the cranial pole bulged dorsally and the surface of the cranium was irregular. The diagnosis was confirmed by a repeat ultrasound examination at 11 4 weeks and by autopsy after termination of pregnancy.- - - - - - - - - - ranking = 2.8369587189486keywords = gestation, pregnancy (Clic here for more details about this article) |
5/42. valproic acid embryopathy: report of two siblings with further expansion of the phenotypic abnormalities and a review of the literature.Fetal Valproate syndrome (FVS) results from prenatal exposure to valproic acid (VPA). It is characterized by a distinctive facial appearance, a cluster of minor and major anomalies, and central nervous system dysfunction. In this study, two siblings who were exposed to monotherapy with VPA are described with documentation of long-term follow up. Both children had craniofacial findings, multiple systemic and orthopedic abnormalities, an overgrowth pattern, and developmental deficits. The literature from 1978-2000 is reviewed. A total of 69 cases that were solely exposed to VPA with adequate phenotypic description were identified. The clinical manifestations of FVS encompass a wide spectrum of abnormalities including consistent facial phenotype, multiple systemic and orthopedic involvement, central nervous system dysfunction, and altered physical growth. The facial appearance is characterized by a small broad nose, small ears, flat philtrum, a long upper lip with shallow philtrum, and micro/retrognathia. In this review, 62% of the patients had musculoskeletal abnormalities, 30% had minor skin defects, 26% had cardiovascular abnormalities, 22% had genital abnormalities, and 16% had pulmonary abnormalities. Less frequently encountered abnormalities included brain, eye, kidney, and hearing defects. neural tube defects were seen in 3% of the sample. Twelve percent of affected children died in infancy and 29% of surviving patients had developmental deficits/mental retardation. Although 15% of patients had growth retardation, an overgrowth pattern was seen in 9%. The data from this comprehensive review especially the developmental outcome should be added to the teratogenic risk, that arises in association with the use of VPA during pregnancy.- - - - - - - - - - ranking = 0.15450294864653keywords = pregnancy (Clic here for more details about this article) |
6/42. CNS findings in iniencephaly: case report and literature review.A male iniencephalic foetus of about 25 weeks gestation is described. The baby was born to a 22-year-old mother, who presented with abdominal pain of 1 day duration. An ultrasound scan at that time showed multiple foetal anomalies and the pregnancy was terminated. A stillborn baby was delivered. At autopsy, characteristic findings of iniencephaly were seen in the dysmorphic foetus as well as multiple structural abnormalities. The autopsy results, with emphasis on the neuropathological findings, are described and various hypotheses of the pathogenesis of iniencephaly are discussed with reference to theories of embryological development and other cases in the literature.- - - - - - - - - - ranking = 0.69099410270695keywords = gestation, pregnancy (Clic here for more details about this article) |
7/42. Prenatal genetic screening.This article presents a discussion of screening principles and techniques available to screen for common birth defects during pregnancy. Sixty-five to 70% of women have serum screening and /or ultrasound during pregnancy to evaluate the health and well-being of the developing fetus. The most common birth defects identified by screening include neural tube defects and chromosome abnormalities. nurses employed in prenatal care settings need to have accurate information they can provide to women so they understand the benefits and limitations of screening. Timely presentation of information and identification of available resources will help nurses minimize confusion and provide support for women as they proceed with pregnancy screening.- - - - - - - - - - ranking = 0.46350884593958keywords = pregnancy (Clic here for more details about this article) |
8/42. prenatal diagnosis in three cases of iniencephaly with unusual postmortem findings.Iniencephaly is a rare and lethal congenital malformation of the neural tube characterized by occipital bone defect, cervical dysraphism, fixed retroflexion of the fetal head and severe lordosis of the cervicothoracic spine. The etiology is unknown. Prenatally diagnosed cases of iniencephaly are rare because careful and early ultrasonographic evaluation is necessary. We present three cases of iniencephaly prenatally diagnosed by sonography at 20-22 weeks' gestation in which therapeutic abortion was induced. The sonographic findings were compatible with the postmortem findings. The present cases of iniencephaly were found to carry unusual associated malformations such as two lobes in the right lung and chorangiosis of the placenta. Only hypoplastic lungs have been reported by previous authors. We also studied the 677C-->T mutation on the methylenetetrahydrofolate reductase gene in the parents in one of the present cases. The mother was found to be heterozygous for the 677CT polymorphism.- - - - - - - - - - ranking = 0.53649115406042keywords = gestation (Clic here for more details about this article) |
9/42. Two- and three-dimensional ultrasound in malformations of the medullary canal: report of four cases.A comparison between two-dimensional (2D), and three-dimensional (3D) ultrasonography was made in four fetuses diagnosed with neural tube defect (NTD) in the first half of pregnancy. 3D ultrasonography (orthogonal and multiplanar systems) proved to be an excellent complement to 2D, particularly when using orthogonal planes. When using the 3D multiplanar surface imaging system, excellent images of the malformations can be rapidly obtained.- - - - - - - - - - ranking = 0.15450294864653keywords = pregnancy (Clic here for more details about this article) |
10/42. A case of prenatally diagnosed fetal neurenteric cyst.The combination of a thoracic cystic mass with vertebral anomalies on prenatal ultrasound suggests a neurenteric cyst. The outcome of such cysts mostly depends on the extent of the displacement and functional impairment of the adjacent organs and of the associated central nervous system defects. We present a case of a neurenteric cyst diagnosed on prenatal ultrasound at 34 weeks of gestation which was treated successfully in the early neonatal period.- - - - - - - - - - ranking = 0.53649115406042keywords = gestation (Clic here for more details about this article) |
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