Maternal Monocytes Respond to Cell-Free Fetal DNA and Initiate Key Processes of Human Parturition

Background: Beta thalassemia is a common disorder with autosomal recessive inheritance. The most prenatal diagnostic methods are the invasive techniques that have the risk of miscarriage. Now the non-invasive methods will be gradually alternative for these invasive techniques. Objective: The aim of this study is to evaluate and compare the diagnostic value of two non-invasive diagnostic methods for fetal thalassemia using cell free fetal DNA (cff-DNA) and nucleated RBC (NRBC) in one sampling community. Methods: 10 ml of blood was taken in two k3EDTA tube from 32 pregnant women (mean of gestational age = 11 weeks), who themselves and their husbands had minor thalassemia. One tube was used to enrich NRBC and other was used for cff-DNA extraction. NRBCs were isolated by MACS method and immunohistochemistry; the genome of stained cells was amplified by multiple displacement amplification (MDA) procedure. These products were used as template in b-globin segments PCR. cff-DNA was extracted by THP method and 300 bp areas were recovered from the agarose gel as fetus DNA. These DNA were used as template in touch down PCR to amplify b-globin gen. The amplified b-globin segments were sequenced and the results compared with CVS resul. Results: The data showed that sensitivity and specificity of thalassemia diagnosis by NRBC were 100% and 92% respectively and sensitivity and specificity of thalassemia diagnosis by cff-DNA were 100% and 84% respectively. Conclusion: These methods with high sensitivity can be used as screening test but due to their lower specificity than CVS, they cannot be used as diagnostic test.

Download Full-text

Non-Invasive Prenatal Testing: Current Perspectives and Future Challenges

Genes ◽

10.3390/genes12010015 ◽

2020 ◽

Vol 12 (1) ◽

pp. 15

Author(s):

Luigi Carbone ◽

Federica Cariati ◽

Laura Sarno ◽

Alessandro Conforti ◽

Francesca Bagnulo ◽

...

Keyword(s):

Prenatal Screening ◽

Prenatal Testing ◽

Non Invasive ◽

Fetal Dna ◽

Cell Free Fetal Dna ◽

Common Causes ◽

Future Challenges ◽

Neurodevelopmental Impairment ◽

Fetal Aneuploidies ◽

Made In

Fetal aneuploidies are among the most common causes of miscarriages, perinatal mortality and neurodevelopmental impairment. During the last 70 years, many efforts have been made in order to improve prenatal diagnosis and prenatal screening of these conditions. Recently, the use of cell-free fetal DNA (cff-DNA) testing has been increasingly used in different countries, representing an opportunity for non-invasive prenatal screening of pregnant women. The aim of this narrative review is to describe the state of the art and the main strengths and limitations of this test for prenatal screening of fetal aneuploidies.

Download Full-text

Improvement of Methods for the Isolation of Cell-Free Fetal DNA from Maternal Plasma: Comparison of a Manual and an Automated Method

Annals of the New York Academy of Sciences ◽

10.1196/annals.1368.041 ◽

2006 ◽

Vol 1075 (1) ◽

pp. 308-312 ◽

Cited By ~ 10

Author(s):

D. J HUANG ◽

B. G ZIMMERMANN ◽

W. HOLZGREVE ◽

S. HAHN

Keyword(s):

Maternal Plasma ◽

Fetal Dna ◽

Automated Method ◽

Cell Free Fetal Dna

Download Full-text

Inability to Detect Cell Free Fetal DNA in the Urine of Normal Pregnant Women nor in Those Affected by Preeclampsia Associated HELLP Syndrome

Journal of the Society for Gynecologic Investigation ◽

10.1016/s1071-55760300155-2 ◽

2003 ◽

Vol 10 (8) ◽

pp. 503-508 ◽

Cited By ~ 9

Author(s):

Ying Li ◽

Xiao Yan Zhong ◽

Anjeung Kang ◽

Carolyn Troeger ◽

Wolfgang Holzgreve ◽

...

Keyword(s):

Pregnant Women ◽

Hellp Syndrome ◽

Fetal Dna ◽

Cell Free Fetal Dna

Download Full-text

Down syndrome and cell-free fetal DNA in archived maternal serum

American Journal of Obstetrics and Gynecology ◽

10.1067/mob.2002.127462 ◽

2002 ◽

Vol 187 (5) ◽

pp. 1217-1221 ◽

Cited By ~ 67

Author(s):

Thomas Lee ◽

Erik S. LeShane ◽

Geralyn M. Messerlian ◽

Jacob A. Canick ◽

Antonio Farina ◽

...

Keyword(s):

Down Syndrome ◽

Maternal Serum ◽

Fetal Dna ◽

Cell Free Fetal Dna

Download Full-text

Current relevance of non-invasive prenatal study of cell-free fetal DNA in the mother’s blood and prospects for its application in mass screening of pregnant women in the Russian Federation

Journal of obstetrics and women s diseases ◽

10.17816/jowd56573 ◽

2021 ◽

Vol 70 (1) ◽

pp. 19-50

Author(s):

Elena A. Kalashnikova ◽

Andrey S. Glotov ◽

Elena N. Andreyeva ◽

Ilya Yu. Barkov ◽

Galina Yu. Bobrovnik ◽

...

Keyword(s):

Mass Screening ◽

Russian Federation ◽

Prenatal Screening ◽

First Trimester ◽

Screening Programs ◽

Non Invasive ◽

Fetal Dna ◽

Prenatal Diagnostic ◽

Cell Free Fetal Dna ◽

The Russian Federation

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.

Download Full-text