Non-invasive prenatal diagnosis of trisomy 21 by reverse transcriptase multiplex ligation-dependent probe amplification
| Autor: | Hua-Qiao Wang, Jiachang Chen, Yan-Hua Deng, Qiong He, Aihua Yin, Ming Li, Huayun Chen, Yun-Shao He |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
Clinical Biochemistry
Chorionic villus sampling Single-nucleotide polymorphism Prenatal diagnosis Pregnancy Proteins Polymorphism Single Nucleotide Miscarriage Andrology Fetus Gene Frequency Pregnancy Prenatal Diagnosis Humans Medicine Multiplex Multiplex ligation-dependent probe amplification Cell-Free System medicine.diagnostic_test business.industry Biochemistry (medical) RNA-Directed DNA Polymerase General Medicine medicine.disease Genetic Loci Amniocentesis RNA Female Down Syndrome Oligonucleotide Probes business Trisomy Nucleic Acid Amplification Techniques |
| Zdroj: | cclm. 49:641-646 |
| ISSN: | 1437-4331 1434-6621 |
| DOI: | 10.1515/cclm.2011.099 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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