Developments in laboratory techniques for prenatal diagnosis
@article{Miny2002DevelopmentsIL, title={Developments in laboratory techniques for prenatal diagnosis}, author={Peter Miny and Sevgi Tercanli and Wolfgang Holzgreve}, journal={Current Opinion in Obstetrics and Gynecology}, year={2002}, volume={14}, pages={161-168} }
Ongoing trends in prenatal diagnosis aim at early, rapid, and ideally noninvasive diagnosis as well as at the improvement of risk-screening for aneuploidy. Interphase-fluorescence in situ hybridization and quantitative fluorescence polymerase chain reaction are efficient tools for the rapid exclusion of selected aneuploidies in addition to the established direct preparation of chromosomes from chorionic villi. Interphase fluorescence in situ hybridization has also made possible the diagnosis of…
22 Citations
Prenatal diagnosis: molecular genetics and cytogenetics.
- BiologyBest practice & research. Clinical obstetrics & gynaecology
- 2002
Different fluorescence in situ hybridization technologies provide increased resolution for the elucidation of structural chromosome abnormalities that cannot be resolved by more conventional cytogenetic analyses, including microdeletion syndromes, cryptic or subtle duplications and translocations, complex rearrangements involving many chromosomes, and marker chromosomes.
Detection of Numerical Aneuploidy of Chromosomes X, Y, 13, 18 and 21 in 100 Blood and Fetals Samples by QF-PCR Method
- Medicine
- 2012
QF-PCR method is definitely superior, due to its advantages and few drawbacks in diagnosis of numerical chromosomal aberrations, and is the method of choice for aneuploidy testing.
Prenatal diagnosis: A cytogenetic approach
- MedicineInternational Journal of Clinical Biochemistry and Research
- 2020
Prenatal diagnosis is offered to patients at risk of chromosome anomalies with Abnormal ultrasound scan, Carrier of a chromosomal structural rearrangement and Elevated risk of aneuploidy indicated by…
Non-Invasive Detection of Fetal Rhesus D Status: A Comparison between Polymerase Chain Reaction and Flow Cytometry
- Medicine, BiologyFetal Diagnosis and Therapy
- 2006
Based on the results, flow-cytometric analysis might be proposed as a clinical tool for the non-invasive prenatal determination of the fetal RhD status independently of fetal gender.
Cytogenetics and molecular cytogenetics in prenatal diagnosis.
- Medicine, BiologyClinics in laboratory medicine
- 2003
Chorionic villus sampling and amniocentesis: what are the risks in current practice?
- MedicineCurrent opinion in obstetrics & gynecology
- 2003
During genetic counselling, an individually tailored risk assessment needs to be established before any invasive procedure, which should take into account all the factors modifying the specific risk for aneuploidy or other disorders of the fetus, as well as the actual procedure-related risks.
PRENATAL DIAGNOSIS OF CHROMOSOMAL DISORDERS-molecular aspects
- Medicine, Biology
- 2008
It is known that perinatal mortality is caused in 2 05 percent of cases by inhaerited anomalies of fetuses and many of theese might be explained by genetic disorders. In general genetic disorder is a…
Prenatal genetic diagnosis of Down’s syndrome
- MedicineExpert review of molecular diagnostics
- 2002
Prenatal screening and diagnosis of Down’s syndrome is important to any pregnant woman interested in the health of her fetus and is of particular concern to the growing number of advanced maternal age women who are at increased risk of an affected pregnancy.
Optimized sensitivity of allele-specific PCR for prenatal typing of human platelet alloantigen single nucleotide polymorphisms.
- BiologyBioTechniques
- 2003
A novel PCR-SSP technique is developed to achieve accurate HPA genotypes using only 1 ng DNA per reaction, and the concentration of HPA-specific primers was increased to 1 microM each and exhibited a higher sensitivity compared to a commercial PCR- SSP kit.
Molecular Genetics and Fetal Brain
- Medicine
- 2008
This review is aimed to provide clinician’s practical insight into molecular aspects of certain brain abnormalities and disorders based on prenatal ultrasound assessment and clinical findings.
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