A noninvasive prenatal test in the diagnosis of chromosome aneuploidies


Дәйексөз келтіру

Толық мәтін

Ашық рұқсат Ашық рұқсат
Рұқсат жабық Рұқсат берілді
Рұқсат жабық Рұқсат ақылы немесе тек жазылушылар үшін

Аннотация

Objective. To evaluate the efficiency of a noninvasive prenatal test in the identification of trisomies 21, 18, and 13 and sex chromosome aneuploidies in maternal blood samples. Patients and methods. Results of an analysis of fetal DNA in maternal blood were obtained in 2010 pregnant women. Preparation of samples involved PCR amplification, sequencing, and information analysis of the results of sequencing that could separate fetal and maternal genomic DNA. Results. SNP-based investigation of fetal extracellular DNA in the serum of a pregnant woman correctly identif ied all cases of autosomal trisomies 13, 18, and 21, Turner’s syndrome, Klmefelter’s syndrome, polyploidy and determined the sex of a fetus in all cases. In our investigation, the Panorama test for Down’s syndrome achieved a sensitivity of 100 at 0.05% false-positive rates. Conclusion. The noninvasive prenatal test is an exact method to detect fetal trisomies 21, 18, and 13 and sex chromosome aneuploidy and may be recommended as a highly effective prenatal screening test in pregnant women at 9 weeks’ gestation.

Толық мәтін

Рұқсат жабық

Авторлар туралы

M. Kurtser

Perinatal Medical Center, Lapino Clinical Hospital

Email: m.kurtser@mcclinics.ru
corresponding member of RAS, MD, Professor

Valentina Gnetetskaya

Perinatal Medical Center, Lapino Clinical Hospital

Email: prenatal@list.ru
Ph.D., Head of Medical Genetics Center

Әдебиет тізімі

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