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Non-invasive Prenatal Diagnosis of β-Thalassemia by Detection of the Cell-Free Fetal DNA in Maternal Circulation

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Last updated: 04 Jan 2025

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Abstract

β-thalassemia is one of the most frequent autosomal recessive diseases that has a high recurrence in people of the Mediterranean zone, the Middle East, Tropical Africa, and the Caribbean. Parents who are both carriers for β-thalassemia have a 25% danger to give a child with β-thalassemia major. The most accessible strategies for pre-birth diagnosis are chorionic villus sampling (CVS) somewhere in the range of 11 and 14 weeks and amniocentesis following 15 weeks and both are invasive procedures and cause dangers to the fetus and mother, having a danger of abortion 1 in 100–200 and 1 in 200–400, respectively. The accuracy of these methods is estimated to be 98–99%. Cell-free fetal DNA (cff-DNA) can be found in maternal plasma following 18 days from fertilized egg implantation in Pregnancies after lab conception and resembles extracellular DNA. The discovery of cff-DNA in maternal plasma has led to the evolution of noninvasive prenatal diagnosis(NIPND). Some genomic loci of cff-DNA show methylated sequences unique in relation to circling maternal DNA, this trademark can be utilized to evaluate and demonstrate the presence of fetal DNA during pregnancy, independent of the sex of the embryo. the two major limitations for (NIPND) are the small amount of cff-DNA in maternal blood and its co-existence with maternal free DNA.we study investigations used in the detection of inherited mutation of β-thalassemia in maternal plasma during pregnancy using cell-free fetal DNA and evaluate the diagnostic test performance of cff-DNA for this issue.

DOI

10.21608/smj.2019.15466.1034

Keywords

non invasive prenatal diagnosis, thalassesmia, cell -free fetal DNA

Authors

First Name

sara

Last Name

mahmoud

MiddleName

talal

Affiliation

clinical and chemical pathology department, medical faculty, sohag university

Email

sara.ahmed@med.sohag.edu.eg

City

sohag

Orcid

-

First Name

hasnaa

Last Name

aboalwafa

MiddleName

ahmed

Affiliation

clinical and chemical pathology department, medical faculty, sohag university , sohag

Email

hasnaa_aboalwafa@med.sohag.edu.com

City

-

Orcid

-

First Name

Eman

Last Name

Ali

MiddleName

Hassan

Affiliation

clinical and chemical pathology department, medical faculty, sohag university , sohag

Email

eman_salama@med.sohag.edu.eg

City

sohag

Orcid

-

First Name

Nesma

Last Name

Ahmed

MiddleName

Mokhtar

Affiliation

Clinical pathology department, faculty of medicine, sohag University, sohag, Egypt

Email

dr.nesma84@yahoo.com

City

Sohag

Orcid

-

First Name

mohamed

Last Name

mahmoud

MiddleName

hamdy

Affiliation

clinical and chemical pathology department, medical faculty, sohag university

Email

mohamedalrawy770@yahoo.com

City

sohag

Orcid

-

First Name

shimaa

Last Name

rashed

MiddleName

anwar

Affiliation

clinical and chemical pathology department, medical faculty, sohag university , sohag

Email

shimaaanwar@med.sohag.edu.com

City

-

Orcid

-

Volume

23

Article Issue

3

Related Issue

8555

Issue Date

2019-07-01

Receive Date

2019-08-03

Publish Date

2019-07-01

Page Start

156

Page End

167

Print ISSN

1687-8353

Online ISSN

2682-4159

Link

https://smj.journals.ekb.eg/article_57235.html

Detail API

https://smj.journals.ekb.eg/service?article_code=57235

Order

30

Type

Original Article

Type Code

785

Publication Type

Journal

Publication Title

Sohag Medical Journal

Publication Link

https://smj.journals.ekb.eg/

MainTitle

Non-invasive Prenatal Diagnosis of β-Thalassemia by Detection of the Cell-Free Fetal DNA in Maternal Circulation

Details

Type

Article

Created At

22 Jan 2023