Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Rapid molecular method for prenatal detection of Down's syndrome.

Literature DB >> 7909872

Rapid molecular method for prenatal detection of Down's syndrome.

B Pertl¹, S C Yau, J Sherlock, A F Davies, C G Mathew, M Adinolfi.

Abstract

We have evaluated a rapid method that allows prenatal detection of Down's syndrome in less than 24 hours. DNA from uncultured amniotic fluid, fetal blood, and tissue samples was amplified with the small tandem repeat (STR) marker D21S11. Quantitative analysis of fluorescent STR products with evaluation of their sizes provided clear evidence for trisomy 21. Whilst most normal samples showed two amplification peaks of equal size, Down's syndrome samples were characterised by either three STR peaks or two peaks with a ratio of 2:1. Co-amplification with a non-polymorphic sequence allowed analysis of samples that were homozygous for the 21-derived STRs.

Mesh：

Substances：
DNA

Year: 1994 PMID： 7909872 DOI： 10.1016/s0140-6736(94)92404-x

Source DB: PubMed Journal: Lancet ISSN： 0140-6736 Impact factor: 79.321

Keyword Cloud
Cited

18 in total

1. Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR: first application on 247 chorionic villus samples.

Authors: B Pertl; S Kopp; P M Kroisel; L Tului; B Brambati; M Adinolfi
Journal: J Med Genet Date: 1999-04 Impact factor: 6.318

2. Practical application of fluorescent quantitative PCR on Trisomy 21 in Chinese Han population.

Authors: Xiaobo Sun; Ming Yan; Yuanzhen Zhang; Xin Zhou; Chunhong Wang; Fang Zheng; Chenling Xiong
Journal: Mol Biol Rep Date: 2006-09 Impact factor: 2.316

3. Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: observational study.

Authors: Lyn S Chitty; Karl O Kagan; Francisca S Molina; Jonathan J Waters; Kypros H Nicolaides
Journal: BMJ Date: 2006-02-13

4. Prenatal detection of trisomy 21 and 18 from amniotic fluid by quantitative fluorescent polymerase chain reaction.

Authors: T Tóth; I Findlay; C Papp; E Tóth-Pál; T Marton; B Nagy; P Quirke; Z Papp
Journal: J Med Genet Date: 1998-02 Impact factor: 6.318

5. Rapid trisomy diagnosis (21, 18, and 13) using fluorescent PCR and short tandem repeats: applications for prenatal diagnosis and preimplantation genetic diagnosis.

Authors: I Findlay; T Tóth; P Matthews; T Marton; P Quirke; Z Papp
Journal: J Assist Reprod Genet Date: 1998-05 Impact factor: 3.412

Rapid molecular method for prenatal detection of Down's syndrome.

1. Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR: first application on 247 chorionic villus samples.

2. Practical application of fluorescent quantitative PCR on Trisomy 21 in Chinese Han population.

3. Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: observational study.

4. Prenatal detection of trisomy 21 and 18 from amniotic fluid by quantitative fluorescent polymerase chain reaction.

5. Rapid trisomy diagnosis (21, 18, and 13) using fluorescent PCR and short tandem repeats: applications for prenatal diagnosis and preimplantation genetic diagnosis.

6. Detection of aneuploidies by paralogous sequence quantification.

7. The importance of screening and prenatal diagnosis in the identification of the numerical chromosomal abnormalities.

8. Prenatal diagnosis of fetal aneuploidies using QF-PCR: the egyptian study.

9. Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy.

10. Rapid prenatal diagnosis of Down Syndrome using quantitative fluorescent PCR in uncultured amniocytes.