An efficient method for noninvasive prenatal diagnosis of fetal trisomy 13, trisomy 18, and trisomy 21

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Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing

Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21. However, whether the sequencing approach is as accurate for the noninvasive prenatal diagnosis of trisomy 13 and 18 is unclear due to the lack of data from a large sample set. We studied 392 pregnancies, among which 25 involved a...

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Noninvasive Fetal Aneuploidy Detection for Trisomy 21, 13, and 18

Noninvasive fetal aneuploidy [3] detection technology allows for the detection of fetal genetic conditions, specifically having three chromosomes, a condition called aneuploidy [3], by analyzing a simple blood sample from the pregnant woman. Dennis Lo and Rossa Chiu researched methods of detection of aneuploidies in the early twenty-first century. Their research has been specifically applied to...

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MeDIP Real-Time qPCR has the Potential for Noninvasive Prenatal Screening of Fetal Trisomy 21

This study aimed to verify the reliability of the 7 tissue differentially methylated regions used in the methylated DNA immunoprecipitation (MeDIP) real-time quantitative polymerase chain reaction (real-time qPCR) based approach of fetal DNA in maternal blood to diagnosis of fetal trisomy 21. Forty pregnant women with high risk pregnancy who were referred after first or second trimester screeni...

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Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex.

BACKGROUND There is great need for the development of highly accurate cost effective technologies that could facilitate the widespread adoption of noninvasive prenatal testing (NIPT). METHODS We developed an assay based on the targeted analysis of cell-free DNA for the detection of fetal aneuploidies of chromosomes 21, 18, and 13. This method enabled the capture and analysis of selected genom...

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Natural history of fetal trisomy 18 after prenatal diagnosis.

OBJECTIVE To evaluate the natural fetal and neonatal outcome for pregnancies with an established prenatal diagnosis of fetal trisomy 18, and a parental decision for continuation of the pregnancy. METHODS The obstetric and neonatal outcome data for 23 such pregnancies, diagnosed at a single referral Fetal Medicine Centre, were retrospectively obtained. RESULTS The overall intrauterine fetal ...

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ژورنال

عنوان ژورنال: PLOS ONE

سال: 2019

ISSN: 1932-6203

DOI: 10.1371/journal.pone.0215368