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… 
Prenatal diagnosis: molecular genetics and cytogenetics.
TLDR
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
TLDR
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
  • S. Kumari
  • Medicine
    International 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
TLDR
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.
Chorionic villus sampling and amniocentesis: what are the risks in current practice?
  • C. Papp, Z. Papp
  • Medicine
    Current opinion in obstetrics & gynecology
  • 2003
TLDR
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
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
TLDR
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.
TLDR
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
TLDR
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.
...
1
2
3
...

References

SHOWING 1-10 OF 113 REFERENCES
HLA-G expression in trophoblast cells circulating in maternal peripheral blood during early pregnancy.
TLDR
Early noninvasive prenatal screening for numeric chromosomal abnormalities with fetal trophoblast cells is feasible, and the proof of concept was demonstrated.
Simultaneous fetal cell identification and diagnosis by epsilon-globin chain immunophenotyping and chromosomal fluorescence in situ hybridization.
TLDR
A rapid and accurate method to detect simultaneously fetal erythroblast morphology, intracytoplasmic epsilon-globin, and nuclear FISH is described.
Detection of fetal trisomy 18 by short-term culture of maternal peripheral blood.
TLDR
It is concluded that culturing total nucleated cells from maternal blood is a new procedure that could prove valuable in the detection of the main fetal aneuploidies affecting pregnant populations.
Detection of Structural and Numerical Chromosome Abnormalities in Interphase Cells Using Spectral Imaging
  • J. Fung, H. Weier, R. Pedersen
  • Medicine, Biology
    The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society
  • 2001
TLDR
A multichromosome screening technique based on spectral imaging to simultaneously detect and score as many as 10 different chromosome types and the probe set was chosen to detect more than 70% of all numerical chromosome aberrations responsible for spontaneous abortions.
Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2‐year multi‐center retrospective study and review of the literature
TLDR
Performance characteristics of the AneuVysion assay support a prenatal management strategy that includes utilization of FISH for prenatal testing when a diagnosis of aneuploidy of chromosome 13, 18, 21, X or Y is highly suspected by virtue of maternal age, positive maternal serum biochemical screening or abnormal ultrasound findings.
Non-invasive exclusion of fetal aneuploidy in an at-risk couple with a balanced translocation.
TLDR
There is an advantage of using fetal cells isolated from maternal blood for non-invasive prenatal diagnosis in couples who have a history of multiple miscarriages due to a parental translocation, and who decline invasive testing in a pregnancy that continues to the second trimester.
Diagnosis of trisomy 21 in fetal nucleated erythrocytes from maternal blood by use of short tandem repeat sequences.
TLDR
Fluorescent PCR amplification with polymorphic short tandem repeat (STR) markers can detect fetal aneuploidy and may be useful in the setting of poor hybridization efficiency with FISH analysis, and combined Fetal NRBCs and single-gene diagnoses by the use of DNA microarrays may be feasible in the near future.
Fetal DNA in maternal plasma is elevated in pregnancies with aneuploid fetuses
TLDR
The data suggest that a quantitative analysis of such fetal DNA levels may serve as an additional marker for certain fetal chromosomal abnormalities, in particular for trisomy 21.
...
1
2
3
4
5
...