Search results for "Prenatal diagnosis."

Fetal unilateral urinoma in upper urinary tract obstruction: our experience and review of literature. Does it protect renal function?

2010

Congenital malformations.

2012

Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. Their global birth prevalence is about 2–3%. Both genetic and environmental factors, as well as their combination in a multifactorial contest, may induce congenital defects. Congenital malformations may be classi- fied on the basis of clinical, etiologic as well as pathogenetic criteria. Relevant diagnostic and therapeutic tools have been progressively improving in the last decades, contributing to a better identification and a reduction of long-term morbidity and mortality of these patients. A correct identification of a congen- ita…

Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid

2022

Background: Turner syndrome is a rare genetic condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. In fetuses that survive at birth and without congenital malformations, the prognosis is usually positive, but it has high lethality in utero, especially in the first trimester of pregnancy. Methods: We report a case of monosomy X detected during a prenatal diagnosis for beta thalassemia on coelomic fluid (CF) at the VIII week of gestation. Beta globin gene analysis, whole genome amplification (WGA), quantitative fluorescent PCR and array comparative genomic hybridization (array-CGH) were performed on DNA extracted from CF. R…

Volume scanning in the evaluation of fetal malformations: a new dimension in prenatal diagnosis

1995

Three-dimensional ultrasound examination was performed in 204 patients with a fetal malformation detected by conventional ultrasound. The patients were examined between 13 and 40 weeks of gestation. The ultrasound equipment used was a Combison 330 and a Combison 530 (Kretztechnik, Austria) with an abdominal Voluson sector transducer (3.5/5 MHz) (Kretztechnik, Austria). This ultrasound system can provide a high-quality three-dimensional surface or translucency image of fetal structures similar to that of a photograph or an X-ray image within seconds without an additional expensive work-station. Of the 204 patients examined with three-dimensional ultrasound, this technique proved advantageous…

Three Dimensional ultrasound - a requirement for prenatal diagnosis?

1998

Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe : impact of maternal age and prenatal screening

2013

This study examines trends and geographical differences in total and live birth prevalence of trisomies 21, 18 and 13 with regard to increasing maternal age and prenatal diagnosis in Europe. Twenty-one population-based EUROCAT registries covering 6.1 million births between 1990 and 2009 participated. Trisomy cases included live births, fetal deaths from 20 weeks gestational age and terminations of pregnancy for fetal anomaly. We present correction to 20 weeks gestational age (ie, correcting early terminations for the probability of fetal survival to 20 weeks) to allow for artefactual screening-related differences in total prevalence. Poisson regression was used. The proportion of births in …

New Insights into the Anterior Complex

2020

<b><i>Objective:</i></b> To introduce visualization of the germinal matrix (GM), external angle of the frontal horn, and periventricular white matter while evaluating the anterior complex (AC) during basic ultrasound assessment of the fetal brain. <b><i>Case Presentations:</i></b> This is a retrospective observational study of healthy women with singleton pregnancies, with no increased risk of fetal central nervous system anomalies, attending routine ultrasound screening at 20–32 weeks’ gestation. Seventeen cases are presented in which an abnormal aspect of the GM or external angle of the frontal horn or periventricular white matter on AC eval…

Perinatal management of gastroschisis

2014

Gastroschisis is an abdominal wall defect, typically located to the right of the umbilical cord, requiring an early surgical treatment shortly after birth. Affected patients can be identified during intrauterine life with US and should be delivered in referral hospitals where a multisciplinary approach can be provided, involving neonatologists, clinical geneticists, surgeons and other specialists. These patients require a complex management in Neonatal Intensive Care Unit (NICU) and a long term follow-up after discharge. Exceed the acute neonatal condition, gastroschisis has a good prognosis, if there are no overlapping complications, and it should be differentiated from omphalocele, burden…

Parental and professional agency in terminations for fetal anomalies: analysis of Finnish women's accounts

2013

This study explores the construction of parental and professional agency in the written accounts by women who have undergone selective abortion (N=8). The analysis of the data was based on qualitative, linguistic discourse analysis. The accounts indicate that the mothers themselves exhibited both strong and weak agency during the process of prenatal diagnosis. The role of the professionals was usually discussed in these accounts concerning only the phases of pregnancy when something out of ordinary had been detected. After the termination, the mothers expressed that they were forced to exhibit strong agency and find ways to cope with their distress unaided due to a lack of professional supp…

Three-dimensional ultrasonography in prenatal diagnosis

1995

Within the past five years, 3D ultrasonography has developed to the degree that it offers both the patient and the examiner an entirely new visual experience in prenatal diagnosis. With the system described here (Kretz-technik, Austria), any desired plane can be displayed within the stored volume, and within seconds a high-quality 3D surface or transparent image can be calculated and displayed on the ultrasound monitor without need for an external workstation. All of this can be performed routinely in the clinical setting. Since 1989 we have routinely examined a total of 458 fetuses (242 normal and 216 with anomalies) between 16 and 38 weeks of gestation, supplementing our conventional 2D u…