scholarly journals The Contribution of Molecular Techniques in Prenatal Diagnosis and Post mortem Fetus with Multiple Malformation

10.5772/23725 ◽  
2011 ◽  
Author(s):  
Rejane Gus ◽  
Sandra Leistner-Segal ◽  
Maria Teresa ◽  
Jose Antonio de Azevedo Magalhaes ◽  
Mariluce Riegel ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Molecular Techniques ◽  
Post Mortem ◽  
Multiple Malformation

scholarly journals Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR

Reproduction ◽  
2003 ◽  
pp. 279-297 ◽  
Author(s):  
MA Hulten ◽  
S Dhanjal ◽  
B Pertl
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Chromosome ◽  
Chromosome Analysis ◽  
Maternal Serum ◽  
Molecular Techniques ◽  
Maternal Serum Screening ◽  
Advantages And Disadvantages ◽  
Microscopy Analysis ◽  
Chromosome Disorder

Molecular techniques have been developed for prenatal diagnosis of the most common chromosome disorders (trisomies 21, 13, 18 and sex chromosome aneuploidies) where results are available within a day or two. This involves fluorescence in situ hybridization (FISH) and microscopy analysis of fetal cells or quantitative fluorescence polymerase chain reaction (QF-PCR) on fetal DNA. Guidance is provided on the technological pitfalls in setting up and running these methods. Both methods are reliable, and the risk for misdiagnosis is low, although slightly higher for FISH. FISH is also more labour intensive than QF-PCR, the latter lending itself more easily to automation. These tests have been used as a preamble to full chromosome analysis by microscopy. However, there is a trend to apply the tests as 'stand-alone' tests for women who are at relatively low risk of having a baby with a chromosome disorder, in particular that associated with advanced age or results of maternal serum screening programmes. These women comprise the majority of those currently offered prenatal diagnosis with respect to fetal chromosome disorders and if introduced on a larger scale, the use of FISH and QF-PCR would lead to substantial economical savings. The implication, on the other hand, is that around one in 500 to one in 1000 cases with a mentally and/or physically disabling chromosome disorder would remain undiagnosed.

Prenatal diagnosis on chorionic villi using molecular techniques should be performed from mesenchymal core rather than from direct villi

2011 ◽  
Vol 31 (11) ◽  
pp. 1111-1112 ◽  
Author(s):  
Jérôme Toutain ◽  
Gwendoline Soler ◽  
Jacques Horovitz ◽  
Robert Saura
Keyword(s):  
Prenatal Diagnosis ◽  
Molecular Techniques ◽  
Chorionic Villi

Management of fetal structural cardiac disease in pregnancy

2011 ◽  
Author(s):  
Nick Archer ◽  
Nicky Manning
Keyword(s):  
Prenatal Diagnosis ◽  
Cardiac Disease ◽  
Significant Proportion ◽  
Post Mortem ◽  
Fetal Intervention ◽  
Place Of Delivery ◽  
Mortality And Morbidity ◽  
Neonatal Deaths ◽  
Postnatal Outcome ◽  
In Pregnancy

Introduction 304Diagnosis 306Counselling 308Management of pregnancy 310Fetal intervention 312Management of delivery 314Place of delivery 316Future pregnancies 318Cardiac abnormalities account for approximately 20% of neonatal deaths and in some the cardiac cause is only identified at post-mortem; a significant proportion of CHD remains undetected during pregnancy and thus does not influence management of the pregnancy or delivery. However, there are some lesions whose early postnatal management may be altered in the light of prior knowledge and thus prenatal diagnosis may improve postnatal outcome both in terms of mortality and morbidity....

Mohr syndrome in two sisters: prenatal diagnosis in a 22-week-old fetus with post-mortem findings in both

1999 ◽  
Vol 19 (9) ◽  
pp. 827-831 ◽  
Author(s):  
Sevim Balci ◽  
Gülnur Güler ◽  
Gülsev Kale ◽  
Figen Söylemezo??lu ◽  
Aytekin Besim
Keyword(s):  
Prenatal Diagnosis ◽  
Post Mortem ◽  
Post Mortem Findings

Prenatal multimodal diagnosis of hemangioma of the cerebellum: the case and literary review

2017 ◽  
Author(s):  
D.V. Voronin , M.N. Korlyakova , A.D. Halikov et all
Keyword(s):  
Magnetic Resonance Imaging ◽  
Prenatal Diagnosis ◽  
Brain Tumors ◽  
Fetal Brain ◽  
Diagnostic Techniques ◽  
Post Mortem ◽  
Resonance Imaging ◽  
The Past ◽  
Objective Improvement

Objective: improvement of the quality of prenatal diagnosis of brain tumors using different ray diagnostic techniques. Materials: the case of prenatal diagnosis of hemangioma of the cerebellum at 25 weeks of gestation with ultrasound and magnetic resonance imaging is presented. The diagnosis was verified by post-mortem examination. Results: the publications about the prenatal diagnosis of hemangiomas and other brain tumors over the past 30 years are presented. Conclusion: representation of the features of the ultrasound and MRI picture of fetal brain tumors and the timing of their manifestation allows to organise algorithm of prenatal diagnosis. The prognosis for the fetus in the presence of brain tumors, regardless of the nature of the tumor, should be regarded as unfavourable.

The SAFE project: towards non-invasive prenatal diagnosis

2009 ◽  
Vol 37 (2) ◽  
pp. 460-465 ◽  
Author(s):  
Deborah G. Maddocks ◽  
Medhat S. Alberry ◽  
George Attilakos ◽  
Tracey E. Madgett ◽  
Kin Choi ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Large Scale ◽  
Single Gene ◽  
Cost Effective ◽  
Maternal Plasma ◽  
Molecular Techniques ◽  
Maternal Circulation ◽  
Haemolytic Disease ◽  
Non Invasive ◽  
New Biomarkers

After the revolutionary detection of ffDNA (free fetal DNA) in maternal circulation by real-time PCR in 1997 and advances in molecular techniques, NIPD (non-invasive prenatal diagnosis) is now a clinical reality. Non-invasive diagnosis using ffDNA has been implemented, allowing the detection of paternally inherited alleles, sex-linked conditions and some single-gene disorders and is a viable indicator of predisposition to certain obstetric complications [e.g. PET (pre-eclampsia)]. To date, the major use of ffDNA genotyping in the clinic has been for the non-invasive detection of the pregnancies that are at risk of HDFN (haemolytic disease of the fetus and newborn). This has seen numerous clinical services arising across Europe and many large-scale NIPD genotyping studies taking place using maternal plasma. Because of the interest in performing NIPD and the speed at which the research in this area was developing, the SAFE (Special Non-Invasive Advances in Fetal and Neonatal Evaluation) NoE (Network of Excellence) was founded. The SAFE project was set up to implement routine, cost-effective NIPD and neonatal screening through the creation of long-term partnerships within and beyond the European Community and has played a major role in the standardization of non-invasive RHD genotyping. Other research using ffDNA has focused on the amount of ffDNA present in the maternal circulation, with a view to pre-empting various complications of pregnancy. One of the key areas of interest in the non-invasive arena is the prenatal detection of aneuploid pregnancies, particularly Down's syndrome. Owing to the high maternal DNA background, detection of ffDNA from maternal plasma is very difficult; consequently, research in this area is now more focused on ffRNA to produce new biomarkers.

Prenatal diagnosis for CDG Ia based on post-mortem molecular study of Guthrie card

2006 ◽  
Vol 87 (4) ◽  
pp. 379 ◽  
Author(s):  
Célia Nogueira ◽  
Dulce Quelhas ◽  
Laura Vilarinho
Keyword(s):  
Prenatal Diagnosis ◽  
Molecular Study ◽  
Post Mortem ◽  
Guthrie Card
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