Non-Invasive Prenatal Testing beyond Trisomies

Suciu, I; Toader, Oana; Galeva, S.; Pop, Lucian

doi:10.25122/jml-2019-0053

Cited by 21 publications

(12 citation statements)

References 26 publications

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“…As nearly all genetic abnormalities were identified correctly, high sensitivity and specificity was observed for our simulated samples. Although different sensitivities were reported when detecting genetic abnormalities at different levels 31 , the sensitivity for our reported approach should not varied much, as all relative allelic information were encoded in amplified amplicons for each polymorphic site and different alleles of each amplicon had nearly identical sequences with similar amplification properties.…”

Section: Discussionmentioning

confidence: 99%

“…Here we reported a method enabling the detection of genetic abnormalities simultaneously at different genetic levels through amplicon sequencing of specific polymorphic targets. Although different sensitivities were reported when detecting genetic abnormalities at different levels 31 , the sensitivity for our reported approach should not varied much, as all relative allelic information were encoded in amplified amplicons for each polymorphic site and different alleles of each amplicon had nearly identical sequences with similar amplification properties. In clinical settings, accuracy, specificity and sensitivity should be addressed using real cfDNA samples, as clinical data was inherently noisy and discrepancies between the genotypes of maternal plasma fetal DNA and the fetal genomes were reported in some samples possibly due to confined placental mosaicism 32 .…”

Section: Discussionmentioning

confidence: 99%

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Noninvasive Detection of Fetal Genetic Variations through Polymorphic Sites Sequencing of Maternal Plasma DNA

Gao

2021

Preprint

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Non-invasive prenatal testing (NIPT) for common fetal aneuploidies using circulating cell free DNA in maternal plasma has been widely adopted in clinical practice for its sensitivity and accuracy. However, the detection of subchromosomal abnormalities or monogenetic variations using such a method showed no cost-effectiveness or satisfactory accuracy. Here we show that with the aid of polymorphic sites sequencing, fetal fraction of the sample and genotype of the target site were determined with high accuracy. Then genetic variations at the chromosomal, subchromosomal and nucleotide levels were detected using the overall allelic goodness-of-fit test of all target polymorphic sites to each possible genetic model. Finally, relative allelic distributions for each amplicon were visualized and genetic variations at the chromosomal, subchromosomal and nucleotide levels were determined by distinct characteristic clusters on allelic distribution plot of each possible genetic model. As no parental genetic information was required and all allelic information retained for amplicon sequencing, the reported approach has the potential to simultaneously detect genetic variations at different levels, facilitating the extension of NIPT to all common genetic conditions for general low-risk pregnancies and target variations for certain high-risk pregnancy groups.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Noninvasive Detection of Fetal Genetic Variations through Polymorphic Sites Sequencing of Maternal Plasma DNA

Gao

2021

Preprint

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“…This is an important clue, particularly when the paradigm of first-trimester screening is shifted toward cf DNA. In some countries, a first-trimester ultrasound scan is no longer part of the screening protocol [20][21][22][23]. Cf DNA screening without ultrasound will miss cases with increased NT, which is a valuable tool even in cases without apparent anomalies.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis and Outcome of Tracheal Agenesis as Part of Congenital High Airway Obstruction Syndrome. Case Presentation and Literature Review

et al. 2021

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Tracheal atresia is an extremely rare condition whereby a partial or total obstruction of the trachea is seen. It is almost always lethal, with just a handful of cases that ended with a good outcome. In this study we report on a 15-week male fetus, diagnosed with hyperechogenic lungs, midline heart position and inverted diaphragm. Sonographic findings suggest congenital High Airway Obstruction Syndrome (CHAOS) An ultrasound scan and fetal MRI were not able to point out the exact obstruction level. In spite of extensive counselling, the parents opted to carry on with the pregnancy. Fetal demise was noted on a scan at 19 weeks gestation. After the elective termination of pregnancy, a post-mortem examination showed partial tracheal atresia with no other anomalies. Despite technological progress in CHAOS syndrome, a precise diagnosis and accurate prognosis remain elusive.

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“…It is a non-invasive, relatively painless, and safe procedure with no risk of miscarriage which is usually associated with other prenatal procedures, as amniocentesis and chorionic villus sampling (CVS). NIPT has a higher sensitivity and specificity and more effective overall in detecting common aneuploidies (up to 99%), when compared with traditional prenatal screening, that is not more than 96% in countries with well-organized health systems, but usually stays about 85-90% [8,9]. *IPD is obligatory for high-risk group of pregnant women and is optional for intermediate-risk group.…”

Section: Introductionmentioning

confidence: 99%

Adoption of a non-invasive prenatal test (NIPT) in prenatal screening in Moscow: first results

et al. 2021

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The objective — To assess the effectiveness of including NIPT in the structure of prenatal diagnostics in Moscow. Material and Methods — Totally 5,181 pregnancies undergoing screening for fetal trisomy using NIPT during the period from 01.04.2020 to 30.09.2020 in Russia. According to the results of biochemical blood test, the patients were divided into two groups: group of high risk (cut-off ≥1:100) (n=208) and group of intermediate risk (cut-off 1:101 – 1:2500) (n=4,973). Patients at high-risk cell-free DNA (cfDNA) were offered an invasive procedure, followed by genetic analysis (cytogenetic or molecular karyotyping). Results — Among the analysed samples, 117 (2.3%) had a high risk of the following common fetal chromosome abnormalities by NIPT: trisomy 21 in 50 cases, trisomy 18 in 17 cases, trisomy 13 in 5 cases, and sex chromosome aneuploidy (SCA) in 22 cases. Additionally, rare autosomal trisomies and/or subchromosomal arrangements were revealed in 23 cases. We found associations between cfDNA concentration and high risk of aneuploidies (particularly trisomy 21) and fetal sex and between low fetal fraction (FF) and body mass index (BMI) as well as maternal weight. Additionally, a high risk of trisomy 21 was associated with the term gestation. Conclusion — The effectiveness of technological resources that are based on cfDNA testing for detecting abnormal fetal chromosome numbers and other chromosomal anomalies is high and reduce rates of false positive results. Therefore, NIPT should be more widely used as a first-line screening method.

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Non-Invasive Prenatal Testing beyond Trisomies

Cited by 21 publications

References 26 publications

Noninvasive Detection of Fetal Genetic Variations through Polymorphic Sites Sequencing of Maternal Plasma DNA

Noninvasive Detection of Fetal Genetic Variations through Polymorphic Sites Sequencing of Maternal Plasma DNA

Prenatal Diagnosis and Outcome of Tracheal Agenesis as Part of Congenital High Airway Obstruction Syndrome. Case Presentation and Literature Review

Adoption of a non-invasive prenatal test (NIPT) in prenatal screening in Moscow: first results

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