Search results for "Prenatal diagnosi"

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…

Persistent Left Superior Vena Cava Significance in Prenatal Diagnosis—Case Series

2022

The persistent left superior vena cava (PLSVC) is a congenital heart anomaly reported in 0.3–0.5% of the general population and can be associated with congenital heart diseases in up to 8% of cases. Prenatal identification of PLSVC is important to prompt an extended cardiac and extracardiac fetal examination. We retrospectively reevaluated anomaly scans performed in our unit in a 2-year interval according to the national guidelines to evaluate the incidence of PLSVC and its association with prenatal morbidity. In our population, the incidence of PLSVC was 0.31%, and we found a low association with cardiac and extracardiac anomalies. The standard sections (three-vessel and trachea view, four…

2015

Study que Stion What are the long term trends in the total (live births, fetal deaths, and terminations of pregnancy for fetal anomaly) and live birth prevalence of neural tube defects (NTD) in Europe, where many countries have issued recommendations for folic acid supplementation but a policy for mandatory folic acid fortification of food does not exist? Method S This was a population based, observational study using data on 11 353 cases of NTD not associated with chromosomal anomalies, including 4162 cases of anencephaly and 5776 cases of spina bifida from 28 EUROCAT (European Surveillance of Congenital Anomalies) registries covering approximately 12.5 million births in 19 countries betwe…

Prenatal Risk Calculation (PRC) 3.0: An Extended DoE-Based First-Trimester Screening Algorithm Allowing For Early Blood Sampling

2015

Aim: Both previous versions of the German PRC algorithm developed by our group for routine first-trimester screening relied on the assumption that maternal blood sampling and fetal ultrasonography are performed at the same visit of a pregnant women. In this paper we present an extension of our method allowing also for constellations where this synchronization is abandoned through preponing blood sampling to dates before 11 weeks of gestation. Methods: In contrast to the directly measured concentrations of the serum parameters PAPP-A and free ß-hCG, the logarithmically transformed values could be shown to admit the construction of reference bands covering the whole range from 16 to 84 mm CRL…

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis

2012

Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects. Early death occurs in most cases from anuria, pulmonary hypoplasia, and refractory arterial hypotension. The disease is linked to mutations in the genes encoding several components of the renin-angiotensin system (RAS): AGT (angiotensinogen), REN (renin), ACE (angiotensin-converting enzyme), and AGTR1 (angiotensin II receptor type 1). Here, we review the series of 54 distinct mutations identified in 48 unrelated families. Most of them are no…

Prenatal diagnosis of mucolipidosis II (I-cell disease)

1976

A pregnancy at risk for mucolipidosis II (I-cell disease) was monitored in which an affected fetus was predicted on the basis of the analyses of lysosomal hydrolases in amniotic fluid and cultured amniotic fluid cells, and by the demonstration of an excessive accumulation of [35S] sulfate-labeled glycosaminoglycans in cultured amniotic cells. This diagnosis was confirmed by performing enzyme assays and [35S] sulfate incorporation studies on material derived from the aborted fetus.

Role of prenatal magnetic resonance imaging in fetuses with isolated severe ventriculomegaly at neurosonography: A multicenter study.

2021

Objective: The aim of this study was to report the rate of additional anomalies detected exclusively at prenatal magnetic resonance imaging (MRI) in fetuses with isolated severe ventriculomegaly undergoing neurosonography. Method: Multicenter, retrospective, cohort study involving 20 referral fetal medicine centers in Italy, United Kingdom, Spain and Denmark. Inclusion criteria were fetuses affected by isolated severe ventriculomegaly (≥15 mm), defined as ventriculomegaly with normal karyotype and no other additional central nervous system (CNS) and extra-CNS anomalies on ultrasound. In all cases, a multiplanar assessment of fetal brain as suggested by ISUOG guidelines on fetal neurosonogra…

Three-dimensional helical computed tomography in prenatal diagnosis of fetal skeletal dysplasia

2013

Objectives (1) To study the use and diagnostic value, as a complement to ultrasound, of helical computed tomography (helical CT) to differentiate normal fetuses from cases of skeletal dysplasia; (2) to define the most relevant indications for helical CT; and (3) to evaluate its diagnostic performance with respect to radiological criteria considered discriminatory. Methods This was a retrospective study from 2005 to 2008 in 67 pregnant women who underwent helical CT after 26 weeks of gestation for suspected fetal skeletal dysplasia due to fetal shortened long bones on ultrasound (≤ 10thpercentile), either alone or associated with other bone abnormalities. The results were compared with pedia…

3-D ultrasound in prenatal diagnosis

1999

Abstract 2-D ultrasonography has evolved into an excellent technique in prenatal diagnosis during the past 40 years. The fact remains, however, that 2-D ultrasonography is marked by a lack of ability to provide more than a 2-D demonstration of a 3-D fetus. Although many fetal anomalies are detectable by conventional 2-D ultrasound, it is impossible to demonstrate a defect in the third dimension. 3-D sonography not only offers the third plane, but it also provides the examiner with different viewing modes: the multiplanar, the surface and the transparent demonstration of the fetus. The different viewing modes not only improve the accuracy in detecting fetal malformations, but also serve to d…

Grundprobleme medizinischer Ethik*

1988

The discussion on ethical problems in reproductive medicine that has been going on for quite a decade, is of an exemplary nature; it is mainly focussed on extracorporeal fertilisation, prenatal diagnosis with a view to abortion, and post partum diagnosis and treatment of genetic diseases. The fundamental problems of medical ethics in general come to the fore particularly clearly in this discussion. The following article deals with these fundamental problems, whereas a subsequent article will be concerned in greater detail with the three special disciplines I have just mentioned.