De novo Variants of Dominant Monogenic Disorders in Vietnam Detected by a Noninvasive Prenatal Test: A Case Series
Key finding:
Noninvasive prenatal tests for monogenic diseases (NIPT-SGG) have recently been reported as helpful in early-stage antenatal screening. Our study describes the clinical and genetic features of cases identified by NIPT-SGG. Materials&methods: In a cohort pregnancy with abnormal sonograms, affected cases were confirmed by invasive diagnostic tests concurrently, with NIPT-SGG targeting 25 common dominant single-gene diseases.Publisher:Personalized Medicine
Publication date:08 November 2023This publication supports for the following genetic testing:
Establishment and Assessment of a Non-invasive Prenatal Testing Protocol for 22q11.2 Deletion Syndrome
Key finding:
We established a non-invasive prenatal testing protocol to screen for fetal microdeletion, specifically at 22q11.2 causing DiGeorge syndrome. This is an important step towards expanding the scope of current noninvasive prenatal testing to detect a wide spectrum of fetal diseases caused by microdeletionPublisher:Vietnam Medical Journal
Publication date:01 February 2024This publication supports for the following genetic testing:
Combined Gap-Polymerase Chain Reaction and Targeted Next-Generation Sequencing Improve α- and β-Thalassemia Carrier Screening in Pregnant Women in Vietnam
Key finding:
Vietnam has a high thalassemia burden. We collected blood samples from 5880 pregnant Vietnamese women during prenatal health checks to assess thalassemia carrier frequency using combined gap-polymerase chain reaction (gap-PCR) and targeted next-generation sequencing (NGS).Publisher:tandfonline.com
Publication date:22 August 2022This publication supports for the following genetic testing:
Detection of maternal carriers of common α-thalassemia deletions from cell-free DNA
Key finding:
α-Thalassemia is a common inherited blood disorder manifested mainly by the deletions of α-globin genes. In geographical areas with high carrier frequencies, screening of α-thalassemia carrier state is therefore of vital importance.Publisher:nature.com
Publication date:09 August 2022This publication supports for the following genetic testing:
Genetic profiling of Vietnamese population from large-scale genomic analysis of non-invasive prenatal testing data
Key finding:
The under-representation of several ethnic groups in existing genetic databases and studies have undermined our understanding of the genetic variations and associated traits or diseases in many populations.Publisher:nature.com
Publication date:05 November 2020This publication supports for the following genetic testing:
High prevalence of maternal mosaic monosomy X in pregnant women in Vietnam
Key finding:
To demonstrate the prevalence of maternal mosaic monosomy X (MMXO) in a cohort of pregnant women in Vietnam.Publisher:tandfonline.com
Publication date:13 December 2022This publication supports for the following genetic testing:
Genetic profiling of 2,683 Vietnamese genomes from non-invasive prenatal testing data.
Key finding:
The under-representation of Vietnamese ethnic groups in existing genetic databases and studies have undermined our understanding of the genetic variations and associated traits or diseases in the population.Publisher:biorxiv.org
Publication date:08 December 2019This publication supports for the following genetic testing:
Reducing false positive rate of fetal monosomy X in non-invasive prenatal testing using a combined algorithm to detect maternal mosaic monosomy X.
Key finding:
The false positive rate of detecting monosomy X by NIPT is higher than that of other autosomal aneuploidies, due in part to maternal mosaic monosomy X.Publisher:obgyn.onlinelibrary.wiley.com
Publication date:04 February 2019This publication supports for the following genetic testing:
Establishing and validating noninvasive prenatal testing procedure for fetal aneuploidies in Vietnam.
Key finding:
Noninvasive prenatal testing (NIPT) for fetal aneuploidies has been widely adopted in developed countries. Despite the sharp decrease in the cost of massively parallel sequencing, the technical know-how and skilled personnel are still one of the major limiting factors for applying this technology to NIPT in low-income settings.Publisher:tandfonline.com
Publication date:12 May 2020This publication supports for the following genetic testing:
Genetic landscape of recessive diseases in the Vietnamese population from large-scale clinical exome sequencing
Key finding:
Accurate profiling of population-specific recessive diseases is essential for the design of cost-effective carrier screening programs. However, minority populations and ethnic groups, including Vietnamese, are still underrepresented in existing genetic studies.Publisher:onlinelibrary.wiley.com
Publication date:07 July 2021This publication supports for the following genetic testing:
