Diagnostic accuracy of fetal rhesus D genotyping using cell-free fetal DNA during the first trimester of pregnancy

This review article offers an analysis of application of cell-free fetal DNA non-invasive prenatal screening test for chromosome abnormalities in the mothers blood in different countries. The diagnostic capacities of the method, its limitations, execution models and ethical aspects pertinent to its application are discussed. The data for the discordant results is shown and analyzed. The advantages of the genome-wide variant of cell-free fetal DNA analysis and the problems concerning its application in the mass screening are described. The main suggestion is to implement the contingent cell-free fetal DNA testing model for the common trisomies (for the chromosomes 21, 18 and 13) into the prenatal diagnostic screening programs in the Russian Federation. This novel model is based on the results of the mass combined first trimester prenatal screening in four federal subjects of the country completed by 2019 and is offered as an additional screening in the mid-level risk group (with cut-off from 1 : 100 to 1 : 500 or from 1 : 100 to 1 : 1000) defined according to the first trimester prenatal screening results. The basic requirements for the implementation of the contingent model in the Russian Federation are stated.

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Analysis of first-trimester combined test results in preparation for a cell-free fetal DNA era

International Journal of Gynecology & Obstetrics ◽

10.1016/j.ijgo.2016.05.014 ◽

2016 ◽

Vol 135 (2) ◽

pp. 187-191

Author(s):

Semir Kose ◽

Dilek Cımrın ◽

Nuri Yıldırım ◽

Ozge Aksel ◽

Pembe Keskinoglu ◽

...

Keyword(s):

First Trimester ◽

Test Results ◽

Fetal Dna ◽

Cell Free Fetal Dna ◽

Combined Test ◽

A Cell

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Recent Advances in Fetal Nucleic Acids in Maternal Plasma

Journal of Histochemistry & Cytochemistry ◽

10.1369/jhc.4r6362.2005 ◽

2005 ◽

Vol 53 (3) ◽

pp. 293-296 ◽

Cited By ~ 36

Author(s):

Y.M. Dennis Lo

Keyword(s):

Prenatal Diagnosis ◽

First Trimester ◽

Thalassemia Major ◽

Maternal Plasma ◽

Fetal Dna ◽

Noninvasive Prenatal Diagnosis ◽

Cell Free Fetal Dna ◽

Circulating Fetal Dna ◽

Circulating Rna ◽

Near Future

The discovery of cell-free fetal DNA in maternal plasma in 1997 has opened up new possibilities for noninvasive prenatal diagnosis. Circulating fetal DNA molecules have been detected in maternal plasma from the first trimester onwards and can be robustly detected using a variety of molecular methods. This approach has been used for the prenatal investigation of sex-linked diseases, fetal RhD status, and prenatal exclusion of β-thalassemia major. Recently, fetal RNA has also been found in maternal plasma. Such fetal RNA has been shown to originate from the placenta and to be remarkably stable. The use of microarray-based approaches has made it feasible to rapidly generate new circulating RNA markers. It is hoped that further developments in this field will make the routine and widespread practice of noninvasive nucleic acid-based prenatal diagnosis for common pregnancy-associated disorders feasible in the near future.

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