View clinical trials related to Prenatal Diagnosis.
Filter by:The purpose of this study is to validate a noninvasive prenatal diagnosis procedure for genetic conditions in the developing fetus by analyzing fetal genetic material present in the pregnant mother's blood.
Fetal brain MRI is an essential diagnostic tool to inform parents about the prognosis of abnormalities detected on routine ultrasound. Recent work has shown that brain MRI measurements at the antenatal stage are predictive of the child's postnatal development. However, this work remains limited to basic research, in part because of the lack of normative curves of brain tissue volume evolution from fetal MRI acquired in clinical routine. This project aims to fill this gap. For this purpose, the project will exploit fetal MRI scans acquired in 4 French hospitals (Marseille, Nice, Montpellier and Paris): MRI scans without abnormalities will be centralized for analysis, and families who have undergone these scans will be contacted to evaluate the development of their children after birth. Normative curves will be established by applying a set of treatments developed by the laboratory in Marseille collaborating in the project. Ultimately, these curves will help to clarify the diagnosis of fetuses by providing a quantitative characterization of the normality of brain measurements.
To investigate and evaluate the capacity of prenatal screening, diagnosis and counseling of congenital heart disease in medical institutions in China, in order to understand the current status and existing problems of prenatal prevention and treatment capacity of congenital heart disease in China, and to obtain corresponding baseline data, so as to provide scientific basis for further improving prenatal screening and diagnosis policies in China.
Amniocentesis (amnio) and chorionic villus sampling (CVS) can reliably detect many smaller DNA/genetic abnormalities that cannot be reliably diagnosed by cell-free noninvasive prenatal testing (NIPT) that is in widespread use. The investigators present evidence that a cell-based form of NIPT, here called Single Fetal Cell (SFC) testing, using a blood sample from the mother can detect most or all of the genetic abnormalities that are detected using amnio or CVS. This study proposes to compare the effectiveness of SFC testing in detecting abnormalities already detected by amnio or CVS in women already undergoing these tests as part of their clinical care because of fetal ultrasound abnormalities.
Cardiac echogenic foci are common finding on prenatal follow-up. At hillel Yaffe medical center a post natal echography is performed to all newborns with prenatal cardiac echogenic foci. Reviewing the data collected until now may reduce the need for poist natal echography.
It is well established that screening for Down syndrome should be offered in the first trimester to each pregnant woman. The most common screening method is nowadays the first trimester combined test which consists of a Bayesian analysis of the a priori risk of maternal age for Down's syndrome, and the posterior risk combining serum biomarkers such as beta fraction of the human chorionic gonadotropin (β-hCG), pregnancy-associated plasma protein-A (PAPP-A), and nuchal translucency measurement. Women at high risk for trisomy 21 or 18 using this combined test are eligible for chorionic villous sampling or amniocentesis for a final diagnosis. In recent years there has been a huge advance in prenatal screening for Down's syndrome with the advent of cell free DNA testing with higher sensitivity and specificity than the combined test, in which a positive result must be also confirmed by an invasive diagnostic procedure. But as the range of options broadens, also the need for health education to allow women to have an adequately informed decision process on which prenatal test better suits their needs. In multicultural cities, this has become especially important to integrate patient's values and expectations to an evidence-based decision regarding prenatal testing. There is high-quality evidence demonstrating that aversion to risk of fetal loss related to an invasive test may come from incomplete information, shaping the attitude towards which test to choose from the mother's point of view. And the disbelief that by taking cfDNA testing the risk of miscarriage would be reduced. Many information is available about preferences and attitudes in prenatal testing from Northern European studies, but scarce information is available from Southern Europe, where the amniocentesis rate in the nineties was as high as 40% of the urban pregnant population. The investigators hypothesize that when enough information is given before the initial screening, women will overcome aversion to invasive testing and will be more likely to choose this method as their first choice when compared to women having routine care.
Conventional cytogenetics has been the gold standard for chromosomal analysis in prenatal diagnosis. It allows a microscopic examination for any structural abnormalities of chromosome with a turn-around time of 2 to 3 weeks and it is also labour intensive. Array comparative genome hybridisation (aCGH) provides a platform for a higher resolution analysis of chromosomal aberrations in a shorter period of time. The effectiveness of its application in prenatal diagnosis has been examined. The main clinical limitation lies on the difficult interpretation of certain copy number variants (CNV). Our previous study has demonstrated an increase diagnostic yield of 3.2% using aCGH over conventional cytogenetics in the first-tier test study and by 6% as a further test in a cohort of fetuses with ultrasound abnormality and normal karyotype findings. This finding were consistent with the overall reported of 5.2% to 10% increased detection rate by other studies. Various authorities have also approved the use of aCGH as an adjunct diagnostic tool in prenatal cases with fetal ultrasound abnormalities. The presence study aims to demonstrate the clinical acceptability on the use of aCGH to replace cytogenetics in prenatal diagnosis. For patients requiring invasive prenatal diagnosis by chorionic villus sampling or amniocentesis, they will be offered the options of having either conventional cytogenetics or aCGH. A standard unbiased counselling procedure will be performed by well trained midwives. For patients opting for conventional cytogenetics, the current procedure of karyotyping will be performed. For those opting for aCGH, a quantitative fluorescent Polymerase Chain Reaction (PCR) will be performed first to exclude common aneuploidies and triploidies. aCGH will be arranged for those with normal PCR results and conventional cytogenetics will be reserved for visualization of clinically significant CNVs. All patients will be asked to complete the same questionnaire that has been adopted for the study on "Questionnaire survey on Knowledge and Acceptance on Application of whole genome array Comparative Genomic Hybridisation (aCGH) in Prenatal Diagnosis".
This diagnostic test is aimed to compare the Karyotyping, CMA and NIPT for prenatal diagnosing chromosomal anomalies. Pregnant women who needed prenatal genetic diagnosis meted the study criterion; fetal amniotic fluid was regular examined by Karyotyping and CMA, and maternal peripheral blood was collected for NIPT detecting. And the CMA result as a golden standard, the main outcome is compared the diagnostic efficacy of NIPT for diagnosing chromosomal anomalies.
The fetus may be exposed during pregnancy to nociceptive stimuli because of fetal pathology (e.g., malformation) or a diagnostic or therapeutic procedure. To date, there is very little data and no consensus on fetal analgesia. The aim of the investigators study is to evaluate the pharmacokinetics of Sufentanil after intra amniotic injection.
Cytomegalovirus (CMV) is the largest member of the virus family Herpesviridae that infects almost all humans at some point in their lives (Ross, 2004). Congenital CMV infection is most likely to occur when the mother experiences a primary infection during pregnancy, and it is much less common in cases of reactivation of the disease or infection by a different CMV strain (Boppana 1999, Endres 2001). The prevalence of congenital CMV infection varies between 0.15-2.2% (Ross 2004, Ross 2006, Malm 2007). While most infants born with congenital CMV infection are asymptomatic, 10 to 15% show clinical findings at birth (Ross 2004). It is generally agreed that congenital CMV infection, whether it is symptomatic or not, is a major risk factor for perceptual deficits. However, its influence on children's future neuropsychological functioning is less well established. Symptomatic congenital CMV infection is a major risk factor for poor developmental outcome (Williamson 1982, Kylat 2006, Dollard 2007), but the available data regarding neuropsychological outcome for asymptomatic children is extremely diverse (Conboy 1986, Ivarson 1997, Kashdan 1998, Temple 2000, Zhang 2007). We evaluated the neuropsychological outcome of children with congenital cytomegalovirus (CMV) infection and normal consecutive fetal neurosonographic examinations and determined whether Magnetic Resonance Imaging (MRI) provided additional information in these cases.