Search results for "Prenatal diagnosi"
showing 10 items of 113 documents
Expression of aquaporins early in human pregnancy
2011
Abstract Background Aquaporins (AQPs) constitute a family of channel proteins implicated in transmembrane water transport. Thirteen different AQPs (AQP0–12) have been described but their precise biologic function still remains unclear. AQPs 1, 3, 4, 8, and 9 expression has been described in human chorion, amnion and placenta; however, AQP4 is the only that has been identified in the first trimester of human pregnancy. Objective To assess multiplicity of AQPs expression from 10th to 14th week gestation. Population and methods Chorionic villi samples (CVS) collected in pregnant women for prenatal diagnosis were analysed by real time-PCR to assess cDNA expression of AQPs 1, 2, 3, 4, 5, 6, 7, 8…
A novel L1CAM mutation in a fetus detected by prenatal diagnosis
2010
X-linked hydrocephalus is due to mutations in the L1 neuronal cell adhesion molecule (L1CAM) gene. L1 protein plays a key role in neurite outgrowth, axonal guidance, and pathfinding during the development of the nervous system. We report on a familial case diagnosed by prenatal ultrasonographic examination, with cerebellar hypoplasia, agenesis of the corpus callosum, and the bilateral overlapping of the second and third fingers of the hand. Sequencing of the L1CAM gene showed a novel missense mutation in exon 14: transition of a guanine to cytosine at position 1777 (c.1777G > C), which led to an amino acid change of alanine to proline at position 593 (Ala593Pro) in the sixth immunoglobulin …
Electrocardiographic Diagnosis of Atrial Tachycardia: Classification, P-Wave Morphology, and Differential Diagnosis with Other Supraventricular Tachy…
2015
Atrial tachycardia is defined as a regular atrial activation from atrial areas with centrifugal spread, caused by enhanced automaticity, triggered activity or microreentry. New ECG classification differentiates between focal and macroreentrant atrial tachycardia. Macroreentrant atrial tachycardias include typical atrial flutter and other well characterized macroreentrant circuits in right and left atrium. Typical atrial flutter has been described as counterclockwise reentry within right atrial and it presents a characteristic ECG “sawtooth” pattern on the inferior leads. The foci responsible for focal atrial tachycardia do not occur randomly throughout the atria but tend to cluster at chara…
Potential pitfalls in fetal neurosonography
2005
Objective To present anatomic variants of the fetal brain and artifacts related to scanning techniques that could be misinterpreted as abnormalities on prenatal neurosonographic studies. Methods The findings were derived from fetal neurosonographic studies performed routinely from 16 to 36 weeks' gestation during the last 3 years, supervised by a sonologist specialized in neonatal cranial sonography. Results The pitfalls were divided into three groups: brain parenchyma, ventricular system and choroid plexus. We provide images of these pseudolesions and clues to their differentiation from true brain pathology. Conclusions Knowledge of misleading images seen on fetal neurosonographic studies …
Devices for the capture of rare cells from biological samples for diagnostic purposes
2022
The chance of surviving to a disease often depends on early diagnosis and effective therapy. In the field of early prenatal diagnosis, micromanipulation is a reliable technique for manual selection and isolation of rare fetal cells in maternal biological fluids for molecular or cytogenetic analysis. This technique allows obtaining pure cell populations for analysis, but it is expensive and time consuming, as it requires qualified and experienced staff and specific equipment [1]. This research aims at making the prenatal diagnosis more economical and reproducible in the hospital environment, by creating a device that allows selecting rare cells from biological samples in a semi-automated way…
Rare cell capture platforms based on antibody-conjugated electrospun nanofiber mats for noninvasive prenatal diagnostics
2022
The chance of surviving to a disease often depends on early diagnosis and effective therapy. In the field of early prenatal diagnosis, micromanipulation is a reliable technique for manual selection and isolation of rare fetal cells in maternal biological fluids for molecular or cytogenetic analysis. This technique allows obtaining pure cell populations for analysis, but it is expensive and time consuming, as it requires qualified and experienced staff and specific equipment [1]. The aim of this study is to make the prenatal diagnosis more economical and reproducible in the hospital environment, by creating a device that allows selecting rare cells from biological samples in a semi-automated…
Prenatal Diagnosis of Bovine Aortic Arch Anatomic Variant
2022
Fetal aortic arch development is an early and complex process that depends on many genetic and environmental factors. The final aortic arch varies greatly; it may take the form of a normal arch, anatomic variant (AAAV) with a common origin to that of the innominate artery and left common carotid artery (formerly known as “bovine aortic arch” (with an incidence of up to 27%)) or one of multiple pathological conditions. The present study aimed to establish the feasibility and impact of prenatal anatomic arch variants’ diagnosis. A retrospective study of 271 fetal second- and third-trimester anomaly scans was performed in our tertiary center. Examinations that evaluated the s…
International consensus and practical guidelines on the gynecologic and obstetric management of female patients with hereditary angioedema caused by …
2012
Background There are a limited number of publications on the management of gynecologic/obstetric events in female patients with hereditary angioedema caused by C1 inhibitor deficiency (HAE-C1-INH). Objective We sought to elaborate guidelines for optimizing the management of gynecologic/obstetric events in female patients with HAE-C1-INH. Methods A roundtable discussion took place at the 6th C1 Inhibitor Deficiency Workshop (May 2009, Budapest, Hungary). A review of related literature in English was performed. Results Contraception : Estrogens should be avoided. Barrier methods, intrauterine devices, and progestins can be used. Pregnancy : Attenuated androgens are contraindicated and should …
MICRODISSECTION AND DOP-PCR-BASED REVERSE CHROMOSOME PAINTING AS A FAST AND RELIABLE STRATEGY IN THE ANALYSIS OF VARIOUS STRUCTURAL CHROMOSOME ABNORM…
1996
Reverse chromosome painting has become a powerful tool in clinical genetics for the characterization of cytogenetically unclassifiable aberrations. In this report, the application of a sensitive and rapid procedure for the complete and precise identification of four different de novo structural chromosome abnormalities is presented. These chromosome rearrangements include a marker derived from chromosome 3(cen-q11), an interstitial deletion of chromosome 13 [del(13)(q14q22)], an unbalanced translocation [46,XY, -4, +der(4)t(4;8)(p 15.2;p21.1)] leading to Wolf-Hirschhorn syndrome, and a partial inverted duplication in conjunction with a partial deletion of chromosome 5p [46,XX, -5, +der(5)(:…