The Experts below are selected from a list of 273 Experts worldwide ranked by ideXlab platform
Z Papp - One of the best experts on this subject based on the ideXlab platform.
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major diagnostic and pathological features of Iniencephaly based on twenty four cases
Fetal Diagnosis and Therapy, 2008Co-Authors: Artur Beke, Csaba Papp, Zsanett Szigeti, Akos Csaba, Z PappAbstract:Iniencephaly is quite a rare malformation the etiology of which is still not fully understood. In the majority of cases it is a grave and lethal condition. It is often complicated by other abnormaliti
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prenatal diagnosis and pathoanatomy of Iniencephaly
Clinical Genetics, 2008Co-Authors: I Morocz, G Szeifert, Peter Molnar, Z Toth, K Csecsei, Z PappAbstract:: The authors discuss the diagnostic criteria of Iniencephaly based on data from the literature and eleven additional, new cases. The most important differential diagnostic problems involve anencephaly with spinal retroflexion and the Klippel-Feil syndrome. Ultrasound indicated cranio-spinal alterations while amniotic fluid AFP estimation and exfoliative cytology substantiated abnormal closure of the neural tube, thus comprising helpful means for prenatal diagnosis of Iniencephaly. The authors emphasize the need for median-sagittal sectioning through the spinal column for accurate evaluation of vertebral abnormalities. This, together with close observation of the occiput and the foramen magnum, helps the precise diagnosis of Iniencephaly and once regularly applied will most likely result in more frequent recognition of this developmental abnormality.
Sinan M Beksac - One of the best experts on this subject based on the ideXlab platform.
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prenatal diagnosis in three cases of Iniencephaly with unusual postmortem findings
Prenatal Diagnosis, 2001Co-Authors: Sevim Balci, Ebru Aypar, Gulcin Altinok, Koray Boduroglu, Sinan M BeksacAbstract: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 677CT 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. Copyright © 2001 John Wiley & Sons, Ltd.
Nejat Ciplak - One of the best experts on this subject based on the ideXlab platform.
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Iniencephaly neuroradiological and surgical features case report and review of the literature
Journal of Neurosurgery, 1998Co-Authors: Pamir Erdincler, Mehmet Yasar Kaynar, Bulent Canbaz, Naci Kocer, Cengiz Kuday, Nejat CiplakAbstract:Iniencephaly is a rare congenital anomaly characterized by spina bifida of the cervical vertebrae, fixed retroflexion of the head on the cervical spine, and occipital bone defect. There are only five reports of surviving patients with Iniencephaly. The authors report the case of a newborn who presented with Iniencephaly and an encephalocele that were surgically treated in our service. Neurological examination of the patient yielded normal results except for a moderate psychomotor retardation. The neuroradiological and surgical findings of the case suggested that the trigger of the anomaly was the occipital bone defect and rachischisis of the posterior vertebral arches.
Waldo Sepulveda - One of the best experts on this subject based on the ideXlab platform.
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Fetal spinal anomalies in a first-trimester sonographic screening program for aneuploidy.
Prenatal Diagnosis, 2010Co-Authors: Waldo Sepulveda, Amy E. Wong, David E. FauchonAbstract:Objectives To review the sonographic features of spinal anomalies in first-trimester fetuses presenting for screening for chromosomal abnormalities. Methods Fetuses with a spinal abnormality diagnosed prenatally or postnatally that underwent first-trimester sonographic evaluation at our institution had their clinical information retrieved and their sonograms reviewed. Results A total of 21 fetuses complied with the entry criteria including eight with body stalk anomaly, seven with spina bifida, two with Vertebral, Anal, Cardiac, Tracheal, Esophageal, Renal, and Limb (VACTERL) association, and one case each of isolated kyphoscoliosis, tethered cord, Iniencephaly, and sacrococcygeal teratoma. One fetus with body stalk anomaly and another with VACTERL association also had a myelomeningocele, making a total of nine cases of spina bifida in our series. Five of the nine (56%) cases with spina bifida, one of the two cases with VACTERL association, and the cases with tethered cord and sacrococcygeal teratoma were undiagnosed in the first trimester. Although increased nuchal translucency was found in seven (33%) cases, chromosomal analysis revealed only one case of aneuploidy in this series. Conclusions Fetal spinal abnormalities diagnosed in the first trimester are usually severe and frequently associated with other major defects. The diagnosis of small defects is difficult and a second-trimester scan is still necessary to detect most cases of spina bifida. Copyright © 2010 John Wiley & Sons, Ltd.
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Chromosomal abnormalities in fetuses with open neural tube defects: prenatal identification with ultrasound.
Ultrasound in Obstetrics & Gynecology, 2004Co-Authors: Waldo Sepulveda, Jorge Gutierrez, Edgardo Corral, C. Ayala, Cecilia Be, Patricio VasquezAbstract:Objectives To determine the prevalence of chromosomal abnormalities in fetuses with open neural tube defects (NTD) undergoing prenatal chromosome analysis. The role of prenatal ultrasound in detecting those with an underlying chromosomal abnormality was also investigated. Methods Over a 6-year period, 144 fetuses with open NTD underwent prenatal chromosome analysis between 12 and 37 weeks of gestation, as part of a prospective, multicenter prenatal diagnosis and counseling program in Chile. This population included 66 fetuses with spina bifida, 46 with acrania/anencephaly, 21 with cephalocele and 11 with Iniencephaly. A confident prenatal diagnosis was made in 143 fetuses (99%) and confirmed postnatally in all cases. Results An underlying chromosomal abnormality was diagnosed in 10 fetuses (7%), six with spina bifida, three with cephalocele and one with craniorachischisis. The prevalence of chromosomal abnormality varied according to the defect present in the fetus, with a 14% (3/21) prevalence among those with cephalocele, 9% (6/66) among those with spina bifida and 2% (1/57) among those with lethal defects such as acrania, anencephaly or Iniencephaly. Karyotype results revealed trisomy 18 in seven cases, trisomy 13 in two and mosaicism for a marker chromosome in one. Prenatal ultrasound before the procedure showed that all chromosomally abnormal fetuses had additional findings. The prevalence of chromosomal abnormality in fetuses with spina bifida and cephalocele was higher when chromosome analysis was performed at or before 24 weeks of gestation in comparison to those performed after 24 weeks (5/31 (16%) vs. 4/56 (7%), respectively). However, this difference did not reach statistical significance, probably due to the small number of cases. Conclusions A significant number of fetuses with open NTD are chromosomally abnormal. Although prenatal chromosome analysis should be considered in all cases, prenatal ultrasound seems effective in identifying those fetuses with an underlying chromosomal abnormality. Copyright © 2004 ISUOG. Published by John Wiley & Sons, Ltd.
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Iniencephaly prenatal diagnosis and management
Prenatal Diagnosis, 2000Co-Authors: Solange Sahid, Waldo Sepulveda, Victor Dezerega, Jorge Gutierrez, Luis Rodriguez, Edgardo CorralAbstract: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. Copyright © 2000 John Wiley & Sons, Ltd.
Edgardo Corral - One of the best experts on this subject based on the ideXlab platform.
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Chromosomal abnormalities in fetuses with open neural tube defects: prenatal identification with ultrasound.
Ultrasound in Obstetrics & Gynecology, 2004Co-Authors: Waldo Sepulveda, Jorge Gutierrez, Edgardo Corral, C. Ayala, Cecilia Be, Patricio VasquezAbstract:Objectives To determine the prevalence of chromosomal abnormalities in fetuses with open neural tube defects (NTD) undergoing prenatal chromosome analysis. The role of prenatal ultrasound in detecting those with an underlying chromosomal abnormality was also investigated. Methods Over a 6-year period, 144 fetuses with open NTD underwent prenatal chromosome analysis between 12 and 37 weeks of gestation, as part of a prospective, multicenter prenatal diagnosis and counseling program in Chile. This population included 66 fetuses with spina bifida, 46 with acrania/anencephaly, 21 with cephalocele and 11 with Iniencephaly. A confident prenatal diagnosis was made in 143 fetuses (99%) and confirmed postnatally in all cases. Results An underlying chromosomal abnormality was diagnosed in 10 fetuses (7%), six with spina bifida, three with cephalocele and one with craniorachischisis. The prevalence of chromosomal abnormality varied according to the defect present in the fetus, with a 14% (3/21) prevalence among those with cephalocele, 9% (6/66) among those with spina bifida and 2% (1/57) among those with lethal defects such as acrania, anencephaly or Iniencephaly. Karyotype results revealed trisomy 18 in seven cases, trisomy 13 in two and mosaicism for a marker chromosome in one. Prenatal ultrasound before the procedure showed that all chromosomally abnormal fetuses had additional findings. The prevalence of chromosomal abnormality in fetuses with spina bifida and cephalocele was higher when chromosome analysis was performed at or before 24 weeks of gestation in comparison to those performed after 24 weeks (5/31 (16%) vs. 4/56 (7%), respectively). However, this difference did not reach statistical significance, probably due to the small number of cases. Conclusions A significant number of fetuses with open NTD are chromosomally abnormal. Although prenatal chromosome analysis should be considered in all cases, prenatal ultrasound seems effective in identifying those fetuses with an underlying chromosomal abnormality. Copyright © 2004 ISUOG. Published by John Wiley & Sons, Ltd.
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Iniencephaly prenatal diagnosis and management
Prenatal Diagnosis, 2000Co-Authors: Solange Sahid, Waldo Sepulveda, Victor Dezerega, Jorge Gutierrez, Luis Rodriguez, Edgardo CorralAbstract: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. Copyright © 2000 John Wiley & Sons, Ltd.