Search results for " prenatal diagnosis"

Prevalence of microcephaly in Europe: population based study.

2016

Objectives: Microcephaly is a congenital anomaly where the baby’s head is smaller than expected when compared with babies of the same sex, age and ethnicity. Many of these babies will have underdeveloped brains. This study aimed to provide contemporary estimates of the prevalence of microcephaly in Europe, determine if the diagnosis of microcephaly is consistent across Europe and to evaluate whether changes in prevalence would be detected using the current European surveillance performed by EUROCAT (the European Surveillance of Congenital Anomalies). Design: A questionnaire and a population-based, observational study Setting: 24 EUROCAT registries covering 570,000 births annually in 15 coun…

Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients.

2013

We developed a new application of comparative multiplex dosage analysis (CMDA) for evaluation of the ataxin 2 gene. Expansions of the triplet CAG can cause spinocerebellar ataxia type 2 (SCA2), a neurodegenerative disease with an autosomal-dominant mode of inheritance. Molecular diagnosis of SCA2 is routinely based on the use of conventional PCR to detect the CAG expansion. However, PCR does not amplify an allele with an expansion of many triplets (>80), which is typically found in infantile and juvenile forms of SCA2, thus leading to false negatives. We propose the analysis of the ATXN2 gene by CMDA to complement existing methods currently used for the detection of large expansions of the …

Fetal meconium psedocyst spontaneosly disappeared after birth. A Case report

2010

Antibiotic prophylaxis in antenatal nonrefluxing hydronephrosis, megaureter and ureterocele

2012

Observation is a conservative management option in infants with nonrefluxing hydronephrosis, primary nonrefluxing megaureter and ureterocele diagnosed postnatally following antenatal detection of hydronephrosis. Antibiotic prophylaxis might be a sensible regimen under these circumstances to prevent UTI in this population who are potentially at increased risk. However, studies examining the efficacy of prophylactic antibiotics are sparse in this setting. For each condition, prophylactic policies seem extremely variable, and UTI rates vary widely with comparable rates reported between patients followed on and off antibiotics. Overall, antibiotic prophylaxis seems unnecessary in patients with …

The appropriate and justified use of medical radiation in cardiovascular imaging: a position document of the ESC Associations of Cardiovascular Imagi…

2014

The benefits of cardiac imaging are immense, and modern medicine requires the extensive and versatile use of a variety of cardiac imaging techniques. Cardiologists are responsible for a large part of the radiation exposures every person gets per year from all medical sources. Therefore, they have a particular responsibility to avoid unjustified and non-optimized use of radiation, but sometimes are imperfectly aware of the radiological dose of the examination they prescribe or practice. This position paper aims to summarize the current knowledge on radiation effective doses (and risks) related to cardiac imaging procedures. We have reviewed the literature on radiation doses, which can range …

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

2010

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…

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…

Warum ist Pränataldiagnostik in der Diskussion? Eine Einführung

2017

Prenatal diagnosis has been a subject of intense discussion since it became technically achievable. This is because the results it provides can dramatically change the attitude of mothers towards their unborn children, and can lead to considerable social pressure to abort the child. These undesirable effects might come as a surprise, given that prenatal testing was primarily intended to allow better care for infants waiting to be born. The possible risks of invasive procedures and the only statistical evidence of results are the factors most responsible for the ambivalent attitudes that surround prenatal diagnosis. Another significant factor is the discrepancy between the general availabili…