1/25. The detection of spina bifida before 10 gestational weeks using two- and three-dimensional ultrasound.We present three cases of spina bifida during the embryonic period detected by ultrasound before 10 weeks' gestational age. The last-menstrual-period-based ages ranged from 9 weeks 1 day to 9 weeks 4 days and the crown rump lengths ranged from 22 mm to 28 mm. The cases were identified prospectively in a program of targeted ultrasound examination of high-risk pregnancies, using a 7.5 MHz annular array transvaginal transducer. The use of 3D ultrasound made additional diagnostic ultrasound tomograms possible, but was not necessary for the definite diagnosis. The scalloping of the frontal bones and the Arnold Chiari malformation did not occur before 12 weeks.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
2/25. Sonographic diagnosis of spina bifida at 12 weeks: heading towards indirect signs.Retrospective examination of ultrasound images obtained at 12 weeks of gestation in two fetuses with spina bifida demonstrated retraction of the frontal bones, resulting in an acorn-shaped head, the cerebral peduncles appearing parallel to each other. These craniocerebral signs may improve the accuracy of first-trimester diagnosis of spina bifida by sonography.- - - - - - - - - - ranking = 0.2keywords = gestation (Clic here for more details about this article) |
3/25. First-trimester sonographic diagnosis of distal urethral atresia with megalourethra in VACTERL association.Congenital megalourethra is a rare disorder. We present an early case diagnosed in the first trimester. Prenatal ultrasound showed a megalourethra with a normal fetal bladder, hyperechogenic cystic right kidney and single umbilical artery. After termination of pregnancy, necropsy confirmed all sonographic findings and revealed other malformations (spina bifida occulta, anal atresia, tracheo-oesophageal fistula, brachydactylia) resulting in the diagnosis of VACTERL association. The prenatal diagnostician should seek histological examination firstly to confirm his findings and secondly to avoid missing associations and inherited malformations.- - - - - - - - - - ranking = 0.1426584522506keywords = pregnancy (Clic here for more details about this article) |
4/25. pregnancy in patients with spina bifida and urinary diversion.With better medical care the mortality and morbidity associated with spina bifida are improving and more such patients are reaching reproductive age. Significant problems may be encountered in the management of pregnancy in spina bifida, especially in patients with previous abdominal operations for the management of neuropathic bladder dysfunction. We report successful pregnancy outcomes in 2 such patients, both with urinary diversions, with combined obstetric and urological care. We also review the existing literature on the subject.- - - - - - - - - - ranking = 0.2853169045012keywords = pregnancy (Clic here for more details about this article) |
5/25. Case report: a prenatal case of Jarcho-Levin syndrome diagnosed during the first trimester of pregnancy.The Jarcho-Levin syndrome is a specific form of spondylocostal/spondylothoracic dysostosis. There have been various classifications of this syndrome. We present the case of a severe prenatal Jarcho-Levin syndrome, diagnosed by ultrasound examination during the first trimester of pregnancy in a family with no previous medical history of an affected child. X-ray exploration, high-resolution spiral computed tomography and autopsy confirmed the diagnosis.- - - - - - - - - - ranking = 0.71329226125299keywords = pregnancy (Clic here for more details about this article) |
6/25. Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) in triplet pregnancy after IVF and CVS.BACKGROUND: Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a rare sporadic condition. CASE: We identified an infant with major malformations resembling OEIS. He was the product of a 30-week triplet pregnancy conceived by in vitro fertilization (IVF) and evaluated by chorionic villi sampling (CVS). In this article, we review the possible pathogenetic mechanisms in this case, including IVF, multiple gestation, trauma to the uterus or uterine vessels following CVS, and placenta accreta. CONCLUSIONS: We conclude that the cumulative effects of all or some of these factors may have resulted in uteroplacental insufficiency adequate to produce this phenotype. This case provides additional evidence for the uterine vascular pathogenesis of OEIS complex in humans.- - - - - - - - - - ranking = 0.91329226125299keywords = gestation, pregnancy (Clic here for more details about this article) |
7/25. Asymmetric parasitic dicephalus conjoined twins.In this report, we describe the case of a 19-year-old primigravida pregnant woman who had been hospitalized for 2 days with bleeding and a diagnosis of imminent abortion. Sonographic examination revealed a single fetus of approximately 17 weeks' gestation that initially appeared normal except for a mass on its neck. Further evaluation of the mass identified it as an anencephalic fetal head that was joined to the body with deformed cervical vertebrae. We diagnosed asymmetric parasitic dicephalus conjoined twins. The parents elected to terminate the pregnancy. Labor was induced, and the patient delivered a 20-cm, 208-g male fetus. The fetus had 4 normal limbs and a normal abdomen. Both its heads had a cleft lip, and its spine was U shaped with closed spina bifida at the spinal union in the thoracolumbar area. The patterns of conjoined twins are infinitely varied, but they can be generally classified according to standardized terms based on the anatomic site of their union. Cases of conjoined twins occur so rarely that it is important to learn as much as possible from each case.- - - - - - - - - - ranking = 0.3426584522506keywords = gestation, pregnancy (Clic here for more details about this article) |
8/25. Prenatal and postnatal findings of acrania.INTRODUCTION: Acrania is a rare congenital anomaly in which the flat bones of the cranial vault are partial or complete absent with complete but abnormal development of the cerebral hemispheres. CASE REPORT: We report two cases, diagnosed prenatally by ultrasound and followed by medical pregnancy termination, one with isolated acrania and one with associated cleft lip and palate and spina bifida. DISCUSSION: The acrania pathogenesis is unknown and differential diagnosis should be made with other conditions like anencephaly and acalvaria. Genetic counselling is not easy because there is no evidence for a specific genetic origin, but the extreme rarity and sporadic nature suggests a low recurrence risk.- - - - - - - - - - ranking = 0.1426584522506keywords = pregnancy (Clic here for more details about this article) |
9/25. Second-trimester diagnosis of complete trisomy 9 associated with abnormal maternal serum screen results, open sacral spina bifida and congenital diaphragmatic hernia, and review of the literature.OBJECTIVES: To present the prenatal diagnosis of complete trisomy 9 and to review the literature CASE: A 25-year-old primigravida woman was referred for amniocentesis at 19 weeks' gestation because of abnormal maternal screen results showing an elevated maternal serum alpha-fetoprotein (MSAFP) level and a low maternal serum free beta-human chorionic gonadotrophin (MSfreebeta-hCG) level. RESULTS: Genetic amniocentesis revealed a karyotype of 47,XX, 9 in the amniocytes and an elevated amniotic fluid AFP level. ultrasonography demonstrated intrauterine growth restriction, left congenital diaphragmatic hernia, fetal ascites, a sacral spina bifida, a horseshoe kidney, and absence of amniotic fluid. Ultrafast magnetic resonance imaging scans further depicted detailed anatomical configurations of the major congenital malformations. The pregnancy was terminated subsequently. The proband postnatally manifested characteristic facial dysmorphism, limb deformities, and an open sacral spina bifida with myelomeningocele. cytogenetic analysis of the skin fibroblasts revealed a karyotype of 47,XX, 9. Molecular studies of various uncultured fetal tissues using microsatellite markers confirmed a diagnosis of complete trisomy 9 resulting from a meiotic I nondisjunction error of maternal origin. CONCLUSION: Complete trisomy 9 can be identified prenatally with advanced maternal age, sonographically detected fetal structural abnormalities, and abnormal maternal serum screen results. Fetuses with complete trisomy 9 may be associated with congenital diaphragmatic hernia, an open sacral spina bifida, elevated MSAFP, and low MSfreebeta-hCG. We suggest detailed prenatal imaging investigations and genetic analyses of multiple fetal tissues when a prenatal diagnosis of trisomy 9 is made.- - - - - - - - - - ranking = 0.3426584522506keywords = gestation, pregnancy (Clic here for more details about this article) |
10/25. Spinal congenital dermal sinus associated with upper thoracic meningocele. Case Report.The congenital dermal sinus is an abnormal epithelium-lined sinus tract between the skin surface and deeper tissues. It occurs during neurulation when the neural groove closes to form the neural tube on Day 26 of gestation and results from a failure of neuroectoderm to separate from the cutaneous ectoderm. The most frequent location is the lumbosacral area; an upper thoracic location is quite rare. This 37-year-old man presented with headache and numbness in both arms. No specific neurological findings were observed. physical examination revealed a dimple at T-2. radiography and magnetic resonance imaging of the thoracic spine revealed spina bifida at T1-3, a meningocele, and a dermal sinus tract complex. The treatment approach and outcome in this unusual case are presented.- - - - - - - - - - ranking = 0.2keywords = gestation (Clic here for more details about this article) |
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