DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study

@article{Palomaki2011DNASO,
  title={DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study},
  author={Glenn E. Palomaki and Edward M Kloza and Geralyn M Lambert-Messerlian and James E Haddow and Louis M. Neveux and Mathias Ehrich and Dirk van den Boom and Allan T. Bombard and Cosmin Deciu and Wayne W. Grody and Stanley F. Nelson and Jacob A. Canick},
  journal={Genetics in Medicine},
  year={2011},
  volume={13},
  pages={913-920}
}
Purpose: Prenatal screening for Down syndrome has improved, but the number of resulting invasive diagnostic procedures remains problematic. Measurement of circulating cell-free DNA in maternal plasma might offer improvement.Methods: A blinded, nested case-control study was designed within a cohort of 4664 pregnancies at high risk for Down syndrome. Fetal karyotyping was compared with an internally validated, laboratory-developed test based on next-generation sequencing in 212 Down syndrome and… 
Sequencing Cell-Free DNA in the Maternal Circulation to Screen for Down Syndrome, Other Common Trisomies, and Selected Genetic Disorders
TLDR
This chapter discusses the use of cfDNA for the common autosomal trisomies, sex chromosome aneuploidies, microdeletions, nonviable chromosome disorders, emerging applications, technical limitations, emerging social and ethical issues, and areas for future study.
Sequencing Cell Free DNA in the Maternal Circulation to Screen for Down Syndrome and Other Common Aneuploidies
TLDR
This chapter discusses potential future developments, such as the identification of large deletion/duplication syndromes, and current implementation issues (testing in twins and pregnancies conceived using assisted reproductive technologies).
Maternal Cell free DNA based screening for fetal microdeletion and the importance of careful diagnostic follow up
TLDR
A phenotypically normal mother and fetus who tested positive for atypical 22q deletion via maternal plasma cfDNA testing via NIPS detected a 22q microdeletion that, upon diagnostic workup, did not include the DiGeorge critical region.
Evaluation of a novel screening method for fetal aneuploidy using cell-free DNA in maternal plasma
TLDR
This new technology demonstrates equivalent test performance compared with alternative sequencing approaches, and demonstrates that each chromosome can be successfully interrogated using a single probe.
Clinical implementation of maternal blood cell-free DNA testing in first trimester screening for aneuploidies
Objective To assess the performance of cell-free DNA (cfDNA) testing in maternal blood for detection of fetal aneuploidy of chromosomes 13, 18, 21, X, and Y using targeted sequencing of
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study
TLDR
Among high-risk pregnancies, sequencing circulating cell–free DNA detects nearly all cases of Down syndrome,trisomy 18, and trisomy 13, at a low false-positive rate, and evidence supports clinical testing for these aneuploidies.
Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System
  • F. Gerundino, C. Giachini, F. Torricelli
  • Medicine
    The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
  • 2017
TLDR
The overall test accuracy allowed us to introduce NIPT for T21, T18 and T13 as a clinical service for pregnant women after 10 + 4 weeks of gestation, and sex chromosome aneuploidy assessment needs further validation.
Non-Invasive Prenatal Chromosomal Aneuploidy Testing - Clinical Experience: 100,000 Clinical Samples
TLDR
The accuracy and NIPT assay positivity rate are as predicted by clinical validations and the test demonstrates improvement in the current standard of care.
Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing.
TLDR
It is confirmed that massively parallel sequencing of cell-free DNA in maternal plasma is predictive of common nonmosaic autosomal trisomies in high-risk pregnancies and individual post–massively parallel sequencing risks for all women are estimated.
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 24 REFERENCES
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study
TLDR
Multiplexed maternal plasma DNA sequencing analysis could be used to rule out fetal trisomy 21 among high risk pregnancies and if referrals for amniocentesis or chorionic villus sampling were based on the sequencing test results, about 98% of the invasive diagnostic procedures could be avoided.
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
TLDR
Using the directly sequenced cell-free DNA with high-throughput shotgun sequencing technology from plasma of pregnant women, this method successfully identified all nine cases of trisomy 21 (Down syndrome), two cases oftrisomy 18 (Edward syndrome), and one case of Trisomy 13 (Patau syndrome) in a cohort of 18 normal and aneuploid pregnancies.
Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing
TLDR
Improved detection of trisomy 13 and 18 by using a non-repeat-masked reference human genome instead of a repeat-Masked one to increase the number of aligned sequence reads for each sample and a bioinformatics approach to correct GC content bias in the sequencing data indicate that noninvasive prenatal diagnosis by maternal plasma DNA sequencing is achievable.
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
TLDR
Massively parallel plasma DNA sequencing represents a new approach that is potentially applicable to all pregnancies for the noninvasive prenatal diagnosis of fetal chromosomal aneuploidies.
Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood.
TLDR
Massively parallel sequencing is capable of detecting multiple fetal chromosomal abnormalities from maternal plasma when an optimized algorithm is used.
Quantification of fetal DNA by use of methylation-based DNA discrimination.
TLDR
The results indicate that this multiplex methylation-based reaction detects and quantifies the amount of fetal DNA in a sample isolated from maternal plasma.
Integrated screening for Down's syndrome based on tests performed during the first and second trimesters.
TLDR
A new screening method in which measurements obtained during both trimesters are integrated to provide a single estimate of a woman's risk of having a pregnancy affected by Down's syndrome is proposed.
ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy.
  • Medicine
    Obstetrics and gynecology
  • 2007
TLDR
Clinical management guidelines for the prenatal diagnosis of the most common autosomal trisomies in liveborn infants, including Down syndrome are provided.
Ethical challenges in providing noninvasive prenatal diagnosis
TLDR
Striking the correct balance between providing only worthwhile testing and ensuring individual patients' reproductive choice will be a major challenge and it is important to begin to address the many ethical issues that NIPD raises.
...
1
2
3
...