Systematic review of noninvasive prenatal diagnosis for abnormal chromosome genetic diseases using free fetal DNA in maternal plasma

Yang, Hua; Xu, Hui; Tt, Liu; He, Xiaoxi

doi:10.4238/2015.september.9.1

Cited by 4 publications

(2 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, it clears from maternal circulation in an average half-life of 16 min (range 4-30 min), so that 2 h after parturition, it becomes undetectable [5,6]. Hence, cffDNA has been used as an authentic genetic source for noninvasive prenatal evaluation with tremendous potential for fetal gender, aneuploidies, rhesus D status, and genetic diseases including myotonic dystrophy, achondroplasia, congenital adrenal hyperplasia, B-thalassemia, and Huntington's disease [5,7,8]. The concentration of cffDNA varies among individuals, and overall, it constitutes 3 to 30% of total cell-free DNA (cfDNA) in the plasma of pregnant women [6,9].…”

Section: Introductionmentioning

confidence: 99%

Evaluation and statistical optimization of a method for methylated cell-free fetal DNA extraction from maternal plasma

Akbariqomi

Heidari

Gargari

et al. 2019

J Assist Reprod Genet

View full text Add to dashboard Cite

Purpose Methylated cell-free fetal DNA (cffDNA) in maternal plasma can potentially be used as a biomarker for accurate noninvasive prenatal testing (NIPT) of fetal disorders. Recovery and purification of cffDNA are key steps for downstream applications. In this study, we aimed to developed and evaluated different aspects of an optimized method and compared its efficiency with common methods used for extraction of methylated cffDNA. Methods Single factor experiments, Plackett-Burman (PB) design, and response surface methodology (RSM) were conducted for conventional Triton/Heat/Phenol (cTHP) method optimization. The total cell-free DNA (cfDNA) was extracted from pooled maternal plasma using the optimized method called the Triton/Heat/Phenol/Glycogen (THPG), cTHP method, a column-based kit, and a magnetic bead-based kit. In the next step, methylated cfDNA from the extracted total cfDNA was enriched using a methylated DNA immunoprecipitation (MeDIP) kit. Real-time quantitative polymerase chain reaction was performed on the RASSF1 gene and hyper region to determine the genomic equivalents per milliliter (GEq/ml) values of the methylated cfDNA and cffDNA, respectively. Results The optimum values of the significant factors affecting cfDNA extraction from 200 μl of plasma were 3% SDS, 1% Triton X-100, 0.9 μg/μl glycogen, and 0.3 M sodium acetate. The GEq/ml values of methylated cffDNA extracted using the THPG method were significantly higher than for the tested extraction methods (p < 0.001). Mostafa Akbariqomi and Reza Heidari contributed equally to this work.

show abstract

Section: Introductionmentioning

confidence: 99%

Evaluation and statistical optimization of a method for methylated cell-free fetal DNA extraction from maternal plasma

Akbariqomi

Heidari

Gargari

et al. 2019

J Assist Reprod Genet

View full text Add to dashboard Cite

show abstract

“…The disadvantages of the cf‐DNA are the placental source of the cf‐DNA and the cost of the test. Invasive prenatal testing by chorionic villus sampling or amniocentesis is recommended for all screen‐positive cf‐DNA results …”

Section: Introduction (Rd Wilson)mentioning

confidence: 99%

Current controversies in prenatal diagnosis 3: is there still a value in a nuchal translucency screening ultrasound in conjunction with maternal plasma non‐invasive cell‐free DNA testing?

2015

View full text Add to dashboard Cite

What's already known about this topic? Nuchal translucency is an ultrasound measurement of the fetal physiological lymphatic development as it can identify both normal and abnormal lymphatic collections. Abnormal or enlarged nuchal translucency measurements are nonspecific and heterogeneous in origin. The source of maternal plasma cell free fetal DNA is placental apoptosis. The embryonic and cellular development of the placenta can have true chromosomal mosaicism (involves fetus and placenta) orconfined placental mosaicism (CPM) (placenta only). CPM is present in 1–2% of placentas and can cause false positive results for diagnostic chorionic villus sampling and maternalplasma cell free DNA prenatal aneuploidy screening resultswhile false negative placental results are much less common at 1 per 3000. What does this study add? This report summarizes an oral debate presented at the 19th International Conference on Prenatal Diagnosis and Therapy inWashington, DC, USA, on 14 July 2015. This study compares the fetal aneuploidy screening and detection process with the ultrasound nuchal translucency aneuploidy-geneticpathology screening test/measurement and the more recent maternal plasma cell free DNA aneuploidy only screening test when used in conjunction or separately. Informed consent and patient understanding of the aneuploidy screening options and techniques is an important counselling principle for the variety of aneuploidy and genetic screening protocols.

show abstract

A Novel Method for the Prenatal Diagnosis of Cleft Palate Based on Amniotic Fluid Metabolites

Zhang

Jiang

Shen

et al. 2020

Chinese Journal of Plastic and Reconstructive Surgery

View full text Add to dashboard Cite

Systematic review of noninvasive prenatal diagnosis for abnormal chromosome genetic diseases using free fetal DNA in maternal plasma

Cited by 4 publications

References 11 publications

Evaluation and statistical optimization of a method for methylated cell-free fetal DNA extraction from maternal plasma

Evaluation and statistical optimization of a method for methylated cell-free fetal DNA extraction from maternal plasma

Current controversies in prenatal diagnosis 3: is there still a value in a nuchal translucency screening ultrasound in conjunction with maternal plasma non‐invasive cell‐free DNA testing?

A Novel Method for the Prenatal Diagnosis of Cleft Palate Based on Amniotic Fluid Metabolites

Contact Info

Product

Resources

About