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Werner H.,Clinica de Diagnostico Por Imagem CPDI | Lopes J.,University of Arts | Tonni G.,Prenatal Diagnostic Center | Araujo Junior E.,Federal University of Sao Paulo
Medical Ultrasonography | Year: 2015

Cervical teratoma is a rare congenital tumor that tends to be large and is usually solid/cystic. Estimation of the degree of tracheal compression or distortion allows multidisciplinary planning for delivery and neonatal resuscitation. We present a case of prenatal diagnosis of cervical teratoma at 29 weeks of gestation. The use of a physical model from 3D ultrasound and magnetic resonance imaging improved the understanding of spatial relationships of fetal anomaly and the adjacent structures, permitting better parent counselling. This technology can be used for educational purposes and as a method for parents to visualize their unborn baby. Source

Liu D.,Southern Medical University | Zhang X.,303rd Hospital of the Peoples Liberation Army | Yu L.,Southern Medical University | Cai R.,Liuzhou Women and Children Care Hospital | And 11 more authors.
Blood | Year: 2014

Mutations in human Krüppel-like factor 1 (KLF1) have recently been reported to be responsible for increased fetal hemoglobin (HbF) and hemoglobin A2 (HbA2). Because increased HbF and HbA2 levels are important features of β-thalassemia, we examined whether there is any relationship between KLF1 mutation and β-thalassemia in China. To do this, we first studied the incidence of KLF1 mutations in 2 Chinese populations: 3839 individuals from a thalassemia endemic region in south China and 1190 individuals from a nonthalassemia endemic region in north China. Interestingly, we found that the prevalence of KLF1 mutations is significantly higher in the thalassemia endemic region than that in nonthalassemia endemic region (1.25% vs 0.08%). Furthermore, we identified 7 functional variants including 4 previously reported (p.Gly176AlafsX179, p.Ala298Pro, p.Thr334Arg, and c.91311G>A) and 3 novel variants (p.His299Asp, p.Cys341Tyr, and p.Glu5Lys) in southern China. The 2 most common mutations, p.Gly176AlafsX179 and p.His299Asp, accounted for 90.6% of the total. We found that zinc-finger mutations in KLF1 were selectively represented in 12 β-thalassemia intermedia patients and resulted in significantly different transfusion-free survival curves. Our findings suggest that KLF1 mutations occur selectively in the presence of β-thalassemia to increase the production of HbF, which in turn ameliorates the clinical severity of β-thalassemia. © 2014 by The American Society of Hematology. Source

Benoit B.,Princess Grace Hospital | Kagan K.O.,University of Tubingen | Pietzsch V.,Prenatal Diagnostic Center | Tekesin I.,Prenatal Diagnostic Center | Karl K.,Ludwig Maximilians University of Munich
Ultrasound in Obstetrics and Gynecology | Year: 2011

We describe a case series of six fetuses with open spina bifida (OSB) from four different prenatal units, where the anomaly was detected at the routine 11-13-week ultrasound examination. Crown-rump length ranged from 49 to 78 mm. All cases were first suspected during nuchal translucency thickness measurement in the mid-sagittal plane of the face. OSB was lumbosacral in five fetuses and cervical in one. The intracranial translucency (IT) was obliterated in two cases, but some fluid was found in the other four cases. However, in all cases the typical landmarks of a normal posterior brain and normal IT were absent. In all six cases the ratio of brainstem diameter to brainstem-occipital bone distance was increased (â?¥ 1). This detection of an abnormal posterior brain led to a targeted examination and detection of the spinal lesion during the same examination in five cases, whereas in one suspicious case the patient was recalled at 17 weeks, when the abnormality was detected. Two fetuses had both multiple anomalies and trisomy 18. These prospective cases demonstrate the feasibility of using the standard mid-sagittal plane commonly used for NT measurement to assess the IT and the posterior brain and to determine the presence of OSB during NT screening. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd. Source

Werner H.,Radiologia | Lopes J.,University of Arts | Tonni G.,Prenatal Diagnostic Center | Araujo Junior E.,Federal University of Sao Paulo
Child's Nervous System | Year: 2015

ᅟRapid prototyping is becoming a fast-growing and valuable technique for physical models in case of congenital anomalies. Manufacturing models are generally built from three-dimensional (3D) ultrasound, computed tomography, and fetal magnetic resonance imaging (MRI) scan data. Physical prototype has demonstrated to be clinically of value in case of complex fetal malformations and may improve antenatal management especially in cases of craniosynostosis, orofacial clefts, and giant epignathus. In addition, it may enhance parental bonding in visually impaired parents and have didactic value in teaching program. Hereby, the first 3D physical model from 3D ultrasound and MRI scan data reconstruction of lumbosacral myelomeningocele in a third trimester fetus affected by Chiari II malformation is reported. © 2015, Springer-Verlag Berlin Heidelberg. Source

Gabriele T.,Prenatal Diagnostic Center | Gianpaolo G.,Prenatal Diagnostic Center
Archives of Gynecology and Obstetrics | Year: 2013

Purpose: Sirenomelia is caused by atrophy of the lower extremities that is commonly associated with gastrointestinal and urogenital malformations. Methods: Embryogenic environmental theories and systematic review of the literature are reported. Results: Genetic basis of the condition has been demonstrated in the animal model. In humans, association with de novo balanced translocation has only recently been documented. Conclusions: A case of triploidy mosaic fetus with sirenomelia and posterior fossa anomaly diagnosed at first trimester using novel three-dimensional ultrasound imaging techniques is presented. © 2013 Springer-Verlag Berlin Heidelberg. Source

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