Prenatal Tarama Testleri ve Hücreden Bağımsız Fetal DNA

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.

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EP04.18: Validation of fetal DNA fraction estimation and its application in non‐invasive prenatal testing for aneuploidy detection in multiple pregnancies

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.21173 ◽

2019 ◽

Vol 54 (S1) ◽

pp. 253-253

Author(s):

M. Chen ◽

F. Jiang ◽

H. Yan ◽

N. Li ◽

J. Wang ◽

...

Keyword(s):

Prenatal Testing ◽

Multiple Pregnancies ◽

Non Invasive ◽

Fetal Dna

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P14.15: Elevated fetal DNA levels in maternal blood in the 14th week: a case report

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.8496 ◽

2010 ◽

Vol 36 (S1) ◽

pp. 221-221

Author(s):

R. Vlk ◽

I. Hromadnikova ◽

M. Simandlova ◽

M. Hrehorcak ◽

M. Havlovicova ◽

...

Keyword(s):

Case Report ◽

Maternal Blood ◽

Fetal Dna

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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.

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