Article
Licensed
Unlicensed
Requires Authentication
Non-invasive prenatal diagnosis of trisomy 21 by reverse transcriptase multiplex ligation-dependent probe amplification
-
Yan-Hua Deng
Published/Copyright:
February 9, 2011
Abstract
Background: Obtaining fetal DNA or RNA by either chorionic villus sampling (CVS) or amniocentesis is currently, the gold standard prenatal diagnosis. However, these invasive procedures carry risk of miscarriage. A reliable method for non-invasive prenatal diagnosis (NIPD) has long been sought to reduce the risk of miscarriage.
Methods: Cell-free fetal RNA was extracted from the plasma of peripheral blood from 121 women 9–20 weeks of pregnancy. Five single nucleotide polymorphism (SNP) loci in PLAC4 gene were analyzed by reverse transcriptase multiplex ligation-dependent probe amplification (RT-MLPA), followed by capillary electrophoresis. Karyotype analysis was used for confirmation of prenatal diagnosis of trisomy 21.
Results: Of 121 samples, 23 were diagnosed with trisomy 21, 87 with normal ploidy, nine had all five SNP loci homozygous and two had one heterozygous SNP locus. Comparing with karyotype analysis, the diagnostic sensitivity and specificity of RT-MLPA were 92% and 100%, respectively.
Conclusions: RT-MLPA is a convenient and reliable method for the diagnosis of trisomy 21. We have shown that this method has good specificity, high sensitivity, and high throughput, making this technique applicable for NIPD in clinical practice.
Received: 2010-7-15
Accepted: 2010-9-24
Published Online: 2011-02-09
Published in Print: 2011-04-01
©2011 by Walter de Gruyter Berlin New York
You are currently not able to access this content.
You are currently not able to access this content.
Articles in the same Issue
- Editorial
- Nuclear and radiation accidents: the next and further challenge for laboratory diagnostics
- Reviews
- Diagnostic, prognostic and therapeutic relevance of B-type natriuretic hormone and related peptides in children with congenital heart diseases
- Miniaturization and globalization of clinical laboratory activities
- Inflammatory markers in childhood asthma
- Age-related macular degeneration: genetic and clinical findings
- Opinion Paper
- Economic evidence in decision-making process in laboratory medicine
- Point
- A new concept to derive permissible limits for analytical imprecision and bias considering diagnostic requirements and technical state-of-the-art
- Counterpoint
- Do new concepts for deriving permissible limits for analytical imprecision and bias have any advantages over existing consensus?
- Genetics and Molecular Diagnostics
- Non-invasive prenatal diagnosis of trisomy 21 by reverse transcriptase multiplex ligation-dependent probe amplification
- General Clinical Chemistry and Laboratory Medicine
- Evaluation of the Menarini/ARKRAY ADAMS A1c HA-8180V analyser for HbA1c
- Evaluation of two HbA1c point-of-care analyzers
- Indirect reference intervals of plasma and serum thyrotropin (TSH) concentrations from intra-laboratory data bases from several German and Italian medical centres
- Pseudohypocalcemia caused by perchlorate (Irenat®)
- Serum cholesterol measured by isotope dilution liquid chromatography tandem mass spectrometry
- Confirmation of congenital adrenal hyperplasia by adrenal steroid profiling of filter paper dried blood samples using ultra-performance liquid chromatography-tandem mass spectrometry
- Sensitivity and specificity of the high fluorescent lymphocyte count-gate on the Sysmex XE-5000 hematology analyzer for detection of peripheral plasma cells
- Clauss assay and fibrinogen protein estimated by capillary zone electrophoresis
- High frequency of inadequate test requests for antiphospholipid antibodies in daily clinical practice
- Cancer Diagnostics
- Detection of HOXA9 gene methylation in tumor tissues and induced sputum samples from primary lung cancer patients
- MMP-9 expression in peripheral blood mononuclear cells and the association with clinicopathological features and prognosis of nasopharyngeal carcinoma
- A comparative evaluation of Golgi protein-73, fucosylated hemopexin, α-fetoprotein, and PIVKA-II in the serum of patients with chronic hepatitis, cirrhosis, and hepatocellular carcinoma
- Cardiovascular Diseases
- B-type natriuretic peptide measurement in primary care; magnitude of associations with cardiovascular risk factors and their therapies. Observations from the STOP-HF (St. Vincent’s Screening TO Prevent Heart Failure) study
- Elevated concentrations of Nɛ-homocysteinyl-lysine isopeptide in acute myocardial infarction: links with ADMA formation
- Letters to the Editor
- More on preanalytical variables affecting platelet function testing using light transmittance aggregometry
- Relationship of hepatic steatosis and alanine aminotransferase with coronary calcification
- Why do different EQA schemes have apparently different limits of acceptability?
- Prevalence of antithyroid antibodies and thyroid-stimulating hormone concentration in young people
- Evaluation of multiplex PCR using dual-priming oligonucleotide for the detection of vanA and vanB in vancomycin-resistant enterococci
- The IFCC Task Force for Young Scientists
Articles in the same Issue
- Editorial
- Nuclear and radiation accidents: the next and further challenge for laboratory diagnostics
- Reviews
- Diagnostic, prognostic and therapeutic relevance of B-type natriuretic hormone and related peptides in children with congenital heart diseases
- Miniaturization and globalization of clinical laboratory activities
- Inflammatory markers in childhood asthma
- Age-related macular degeneration: genetic and clinical findings
- Opinion Paper
- Economic evidence in decision-making process in laboratory medicine
- Point
- A new concept to derive permissible limits for analytical imprecision and bias considering diagnostic requirements and technical state-of-the-art
- Counterpoint
- Do new concepts for deriving permissible limits for analytical imprecision and bias have any advantages over existing consensus?
- Genetics and Molecular Diagnostics
- Non-invasive prenatal diagnosis of trisomy 21 by reverse transcriptase multiplex ligation-dependent probe amplification
- General Clinical Chemistry and Laboratory Medicine
- Evaluation of the Menarini/ARKRAY ADAMS A1c HA-8180V analyser for HbA1c
- Evaluation of two HbA1c point-of-care analyzers
- Indirect reference intervals of plasma and serum thyrotropin (TSH) concentrations from intra-laboratory data bases from several German and Italian medical centres
- Pseudohypocalcemia caused by perchlorate (Irenat®)
- Serum cholesterol measured by isotope dilution liquid chromatography tandem mass spectrometry
- Confirmation of congenital adrenal hyperplasia by adrenal steroid profiling of filter paper dried blood samples using ultra-performance liquid chromatography-tandem mass spectrometry
- Sensitivity and specificity of the high fluorescent lymphocyte count-gate on the Sysmex XE-5000 hematology analyzer for detection of peripheral plasma cells
- Clauss assay and fibrinogen protein estimated by capillary zone electrophoresis
- High frequency of inadequate test requests for antiphospholipid antibodies in daily clinical practice
- Cancer Diagnostics
- Detection of HOXA9 gene methylation in tumor tissues and induced sputum samples from primary lung cancer patients
- MMP-9 expression in peripheral blood mononuclear cells and the association with clinicopathological features and prognosis of nasopharyngeal carcinoma
- A comparative evaluation of Golgi protein-73, fucosylated hemopexin, α-fetoprotein, and PIVKA-II in the serum of patients with chronic hepatitis, cirrhosis, and hepatocellular carcinoma
- Cardiovascular Diseases
- B-type natriuretic peptide measurement in primary care; magnitude of associations with cardiovascular risk factors and their therapies. Observations from the STOP-HF (St. Vincent’s Screening TO Prevent Heart Failure) study
- Elevated concentrations of Nɛ-homocysteinyl-lysine isopeptide in acute myocardial infarction: links with ADMA formation
- Letters to the Editor
- More on preanalytical variables affecting platelet function testing using light transmittance aggregometry
- Relationship of hepatic steatosis and alanine aminotransferase with coronary calcification
- Why do different EQA schemes have apparently different limits of acceptability?
- Prevalence of antithyroid antibodies and thyroid-stimulating hormone concentration in young people
- Evaluation of multiplex PCR using dual-priming oligonucleotide for the detection of vanA and vanB in vancomycin-resistant enterococci
- The IFCC Task Force for Young Scientists
