1/19. spinal cord tethering associated with amniotic band syndrome.amniotic band syndrome (ABS) comprises fetal morphological abnormalities that may be associated with fibrous amniotic bands that damage developing fetal parts resulting in cutaneous scars, erosions and ulcerations, digital constricting bands, craniofacial and visceral anomalies. Multiple asymmetric encephaloceles and anencephaly are neural-tube-like defects previously reported with ABS. This is the first report of spinal dysraphism with dorsal spinal cord tethering associated with ABS. We examine the pathogenetic theories of ABS in light of this report.- - - - - - - - - - ranking = 1keywords = anencephaly (Clic here for more details about this article) |
2/19. 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 = 1keywords = anencephaly (Clic here for more details about this article) |
3/19. Monocephalus diprosopus, a rare form of conjoined twins, and associated congenital anomalies.Craniofacial duplication (diprosopus) is a rare form of conjoined twins. A case of monocephalus diprosopus with anencephaly, cervicothoracolumbar rachischisis, and duplication of the respiratory tract and upper gastrointestinal tract is reported. The cardiovascular system remained single but the heart showed transposition of the great vessels. We present this case due to its rarity, and compare our pathologic findings with those already reported.- - - - - - - - - - ranking = 1keywords = anencephaly (Clic here for more details about this article) |
4/19. Recurrent neural tube defects associated with partial trisomy 2p22-pter: report of two siblings and review of the literature.We report on two male siblings with partial trisomy 2p22-pter and partial monosomy 15q26-qter resulting from a maternally derived translocation t(2;15)(p22;q26). Both fetuses had different neural tube defects (craniorachischisis in the first fetus and anencephaly in the second fetus) which were detected by sonographic examination at the end of the first trimester of pregnancy. This report demonstrates the importance of chromosomal analysis in the etiologic exploration of neural tube defects and supports the importance of 2p24 triplication in neural tube development.- - - - - - - - - - ranking = 1keywords = anencephaly (Clic here for more details about this article) |
5/19. High levels of maternal serum alpha-fetoprotein and human chorionic gonadotrophins leading to the diagnosis of combined neural tube defect and partial mole.A case of combined partial mole and neural tube defect is presented. The detection of high levels of both maternal serum (MS) alpha-fetoprotein (AFP) and human chorionic gonadotrophin (hCG) during the second trimester led to the ultrasonic demonstration of anencephaly, omphalocele, and partial mole. This is the first report of combined elevation of MSAFP and MShCG.- - - - - - - - - - ranking = 1keywords = anencephaly (Clic here for more details about this article) |
6/19. prenatal diagnosis of acrania associated with amniotic band syndrome.BACKGROUND: The amniotic band syndrome is a collection of fetal malformations associated with fibrous bands that appear to entrap or entangle various fetal parts in utero and can affect any organ or system and cause a single or multiple anomalies. The anomaly, acrania, is characterized by partial or complete absence of the calvarium with abnormal brain tissue development. literature reports association of amniotic band syndrome and acrania postnatally, but not diagnosed prenatally by ultrasound. CASE: A young woman, gravida 1, para 0, presented for an initial prenatal visit at 35 weeks' gestation and had a first ultrasound that showed a single intrauterine pregnancy at 36 weeks' gestation. This ultrasound also showed polyhydramnios, absence of or a very small cerebrum with either anencephaly or acrania. A targeted ultrasound scan was performed on the following day, which confirmed acrania in view of the fact that we did see an absence of the flat bones of the skull with a substantial amount of abnormal brain tissue present surrounded by a fetal membrane. The patient was counseled, and labor induction was scheduled with a male infant delivered weighing 1763 g after a spontaneous vaginal delivery. The infant was diagnosed with acrania, given supportive care, and died 11 hours later. CONCLUSION: Diagnosis of cranial bone defects can be established by ultrasound in the first trimester of pregnancy. The prenatal diagnosis of acrania associated with amniotic bands by transvaginal ultrasound was visualized in the third trimester in this case; therefore, appropriate counseling and treatment options were offered.- - - - - - - - - - ranking = 1keywords = anencephaly (Clic here for more details about this article) |
7/19. 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 = 1keywords = anencephaly (Clic here for more details about this article) |
8/19. Possible evidence for secondary degeneration of central nervous system in the pathogenesis of anencephaly and brain dysraphia. A study in young human fetuses.In an attempt to help elucidate pathogenetically those human cases exemplifying secondary degeneration of the neural tube causing brain dysraphia, macroscopic and histologic observations of two young human fetuses are described. A nine-week-old anencephalic fetus exhibited an absence of spinal cord (amyelia) with retention of neural crest derivatives (dorsal root ganglion cells and thusir processes, and sympathetic ganglia) implying the presence of a neural tube in early gestation. The second, ten-week-old exencephalic case exhibited restricted brain hemorrhage and necrosis of the telencephalon and brain stem amongst otherwise normal brain and spinal cord tissue. These two young fetal cases may represent examples of a previously normal neural tube which has undergone degeneration at a stage where neural crest has already undergone differentiation, and thus distinguishes them from cases of complete dysraphism which probably results from primary degeneration during neurulation.- - - - - - - - - - ranking = 4keywords = anencephaly (Clic here for more details about this article) |
9/19. Iniencephaly and chromosome mosaicism: a report of two cases.We report here two iniencephaly fetuses with chromosome mosaicism. The first fetus (22 weeks) was male with mosaic trisomy 13, and the second fetus (24 weeks) was female with mosaic monosomy X. The first fetus had anencephaly, facial clefting, left-sided rocker bottom foot, equinovarous deformity, bilateral simian crease of hands and horseshoe kidney in addition to iniencephaly. The second fetus had hydrops fetalis with cystic hygroma in addition to iniencephaly. Because the fetuses were sent in formalin, conventional chromosomal analysis was not possible in spite of strong indication. interphase fluorescence in situ hybridization (FISH) was carried out for targeted aneuploidy analysis. This is fourth published report of chromosomal abnormality in iniencephaly.- - - - - - - - - - ranking = 1keywords = anencephaly (Clic here for more details about this article) |
10/19. prenatal diagnosis of pentalogy of cantrell in three cases, two with craniorachischisis.In this report, we describe 3 cases of pentalogy of cantrell diagnosed prenatally with sonography. All 3 fetuses had an omphalocele and ectopia cordis; 2 of them also had craniorachischisis, in which the open cranial defect (anencephaly or exencephaly) is continuous with the completely open spine (spinal dysraphism). The association of the pentalogy of cantrell with exencephaly is rare, and to our knowledge, the association of this syndrome with craniorachischisis has not been reported previously. In addition, 2 of our cases had clubfoot, and 1 of them also had clubhand, neither of which has been reported previously in association with the pentalogy of cantrell. Finally, polyhydramnios, which occurred in 2 of our cases, has been reported to occur in association with that syndrome in only 1 previous case. We believe that sonographers should be aware that these anomalies may occur simultaneously with the classic anomalies of the pentalogy of cantrell.- - - - - - - - - - ranking = 1keywords = anencephaly (Clic here for more details about this article) |
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