AUTHOR=Alyafee Yusra , Al Tuwaijri Abeer , Umair Muhammad , Alharbi Mashael , Haddad Shahad , Ballow Maryam , Alayyar Latifah , Alam Qamre , Althenayyan Saleh , Al Ghilan Nadia , Al Khaldi Aziza , Faden Majid S. , Al Sufyan Hamad , Alfadhel Majid 

TITLE=Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach

JOURNAL=Frontiers in Genetics

VOLUME=Volume 13 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.1047474

DOI=10.3389/fgene.2022.1047474

ISSN=1664-8021

ABSTRACT=Background: Prenatal diagnosis for autosomal recessive disorders (NIPT-AR) is mainly conducted using invasive procedures such as chorionic villus sampling and amniocentesis for pregnant women at risk of autosomal recessive disorders.  
Methods: Blood samples were collected from four pregnant women who were at risk of having an affected child for different AR disorders in their first trimester of pregnancy. Cell-free DNA cfDNA was extracted, amplified, and double purified to reduce maternal DNA interference. An additional step of whole genome amplification was done for the traces of residual purified cfDNA to be used for subsequent applications. 
Results: Our results showed that we could detect the fetus status with the family corresponding genes (LZTR1, DVL2, HBB, RNASEH2B, and MYO7A) as (Homozygous affected, three wild type, and heterozygous carrier) respectively. All the results were confirmed lately by prenatal testing for amniocentesis. The result of AmpFLSTR™ Identifiler™ showed a different profile than the corresponding mother profile, which can support the result reflecting the fetus’s genetic materials.
Conclusions: In this study, we could detect AR disease mutations in the first trimester of pregnancy and overcome the limitation of maternal genetic material interference. The importance of such detection is the ability to screen pregnant women for common AR diseases, especially for highly consanguineous marriage populations. Opening the door in the future for early detection and prevention of recessive diseases among the population.