scholarly journals Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples

2013 ◽  
Vol 33 (6) ◽  
pp. 569-574 ◽  
Author(s):  
Tracy Futch ◽  
John Spinosa ◽  
Sucheta Bhatt ◽  
Eileen Feo ◽  
Richard P. Rava ◽  
...  
Keyword(s):  
Clinical Laboratory ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Plasma Dna ◽  
Noninvasive Prenatal Testing ◽  
Laboratory Experience ◽  
Fetal Aneuploidy

scholarly journals Noninvasive Prenatal Testing by Nanopore Sequencing of Maternal Plasma DNA: Feasibility Assessment

2015 ◽  
Vol 61 (10) ◽  
pp. 1305-1306 ◽  
Author(s):  
Suk Hang Cheng ◽  
Peiyong Jiang ◽  
Kun Sun ◽  
Yvonne K Y Cheng ◽  
K C Allen Chan ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Maternal Plasma ◽  
Nanopore Sequencing ◽  
Plasma Dna ◽  
Noninvasive Prenatal Testing ◽  
Feasibility Assessment

scholarly journals Universal Haplotype-Based Noninvasive Prenatal Testing for Single Gene Diseases

2017 ◽  
Vol 63 (2) ◽  
pp. 513-524 ◽  
Author(s):  
Winnie W I Hui ◽  
Peiyong Jiang ◽  
Yu K Tong ◽  
Wing-Shan Lee ◽  
Yvonne K Y Cheng ◽  
...  
Keyword(s):  
Single Gene ◽  
Family Members ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Nucleotide Polymorphisms ◽  
Plasma Dna ◽  
Sequencing Technology ◽  
Noninvasive Prenatal Testing ◽  
Haplotype Phasing ◽  
Mutational Status

Abstract BACKGROUND Researchers have developed approaches for the noninvasive prenatal testing of single gene diseases. One approach that allows for the noninvasive assessment of both maternally and paternally inherited mutations involves the analysis of single nucleotide polymorphisms (SNPs) in maternal plasma DNA with reference to parental haplotype information. In the past, parental haplotypes were resolved by complex experimental methods or inferential approaches, such as through the analysis of DNA from other affected family members. Recently, microfluidics-based linked-read sequencing technology has become available and allows the direct haplotype phasing of the whole genome rapidly. We explored the feasibility of applying this direct haplotyping technology in noninvasive prenatal testing. METHODS We first resolved the haplotypes of parental genomes with the use of linked-read sequencing technology. Then, we identified SNPs within and flanking the genes of interest in maternal plasma DNA by targeted sequencing. Finally, we applied relative haplotype dosage analysis to deduce the mutation inheritance status of the fetus. RESULTS Haplotype phasing and relative haplotype dosage analysis of 12 out of 13 families were successfully achieved. The mutational status of these 12 fetuses was correctly classified. CONCLUSIONS High-throughput linked-read sequencing followed by maternal plasma-based relative haplotype dosage analysis represents a streamlined approach for noninvasive prenatal testing of inherited single gene diseases. The approach bypasses the need for mutation-specific assays and is not dependent on the availability of DNA from other affected family members. Thus, the approach is universally applicable to pregnancies at risk for the inheritance of a single gene disease.

Recent Advances in the Noninvasive Prenatal Testing for Chromosomal Abnormalities Using Maternal Plasma DNA

2020 ◽  
Vol 7 (1) ◽  
pp. 17-23 ◽  
Author(s):  
Tze Kin Lau ◽  
Xiaofan Zhu ◽  
Yvonne Ka Yin Kwok ◽  
Tak Yeung Leung ◽  
Kwong Wai Choy
Keyword(s):  
Chromosomal Abnormalities ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Plasma Dna ◽  
Noninvasive Prenatal Testing ◽  
Recent Advances

scholarly journals Incidental Detection of Maternal Neoplasia in Noninvasive Prenatal Testing

2018 ◽  
Vol 64 (2) ◽  
pp. 329-335 ◽  
Author(s):  
Nilesh G Dharajiya ◽  
Daniel S Grosu ◽  
Daniel H Farkas ◽  
Ron M McCullough ◽  
Eyad Almasri ◽  
...  
Keyword(s):  
Clinical Laboratory ◽  
Controlled Trial ◽  
Uterine Fibroids ◽  
Prenatal Testing ◽  
Circulating Tumor Dna ◽  
Malignant Neoplasms ◽  
Noninvasive Prenatal Testing ◽  
Fetal Aneuploidy ◽  
Depth Analysis

Abstract BACKGROUND Noninvasive prenatal testing (NIPT) uses cell-free DNA (cfDNA) as an analyte to detect copy-number alterations in the fetal genome. Because maternal and fetal cfDNA contributions are comingled, changes in the maternal genome can manifest as abnormal NIPT results. Circulating tumor DNA (ctDNA) present in cases of maternal neoplasia has the potential to distort the NIPT readout to a degree that prevents interpretation, resulting in a nonreportable test result for fetal aneuploidy. METHODS NIPT cases that showed a distortion from normal euploid genomic representation were communicated to the caregiving physician as nonreportable for fetal aneuploidy. Follow-up information was subsequently collected for these cases. More than 450000 pregnant patients who submitted samples for clinical laboratory testing >3 years are summarized. Additionally, in-depth analysis was performed for >79000 research-consented samples. RESULTS In total, 55 nonreportable NIPT cases with altered genomic profiles were cataloged. Of these, 43 had additional information available to enable follow-up. A maternal neoplasm was confirmed in 40 of these cases: 18 malignant, 20 benign uterine fibroids, and 2 with radiological confirmation but without pathological classification. CONCLUSIONS In a population of pregnant women who submitted a blood sample for cfDNA testing, an abnormal genomic profile not consistent with fetal abnormalities was detected in about 10 out of 100000 cases. A subset of these observations (18 of 43; 41.9%) was attributed to maternal malignant neoplasms. These observational results suggest the need for a controlled trial to evaluate the potential of using cfDNA as an early biomarker of cancer.

scholarly journals Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies

2014 ◽  
Vol 34 (4) ◽  
pp. 335-340 ◽  
Author(s):  
Xuan Huang ◽  
Jing Zheng ◽  
Min Chen ◽  
Yangyu Zhao ◽  
Chunlei Zhang ◽  
...  
Keyword(s):  
Massively Parallel Sequencing ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Massively Parallel ◽  
Plasma Dna ◽  
Noninvasive Prenatal Testing ◽  
Parallel Sequencing ◽  
Twin Pregnancies

Noninvasive prenatal testing for fetal trisomy 9 mosaicism by maternal plasma DNA sequencing

2015 ◽  
Vol 4 (1) ◽  
Author(s):  
Luming Sun ◽  
Lei Zhang ◽  
Jia Zhou ◽  
Xiaonan Yang ◽  
Tao Duan ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
Trisomy 21 ◽  
Prenatal Screening ◽  
Detection Efficiency ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Plasma Dna ◽  
Noninvasive Prenatal Testing ◽  
Trisomy 9 ◽  
Screening And Diagnosis

AbstractMaternal plasma DNA sequencing based noninvasive prenatal testing (NIPT) has been proven to be highly accurate in the detection of trisomy 21, 18, 13, X and Y, however, few reports have been made on its detection efficiency of rare complex aneuploidies. Here, we report a case of fetal trisomy 9 mosaicism identified by using NIPT, which may provide useful information for the further integration of NIPT into prenatal screening and diagnosis practice.

scholarly journals Combined Count- and Size-Based Analysis of Maternal Plasma DNA for Noninvasive Prenatal Detection of Fetal Subchromosomal Aberrations Facilitates Elucidation of the Fetal and/or Maternal Origin of the Aberrations

2017 ◽  
Vol 63 (2) ◽  
pp. 495-502 ◽  
Author(s):  
Stephanie C Y Yu ◽  
Peiyong Jiang ◽  
K C Allen Chan ◽  
Brigitte H W Faas ◽  
Kwong W Choy ◽  
...  
Keyword(s):  
Massively Parallel Sequencing ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Massively Parallel ◽  
Test Cases ◽  
Plasma Dna ◽  
Diagnostic Specificity ◽  
Noninvasive Prenatal Testing ◽  
Prenatal Detection ◽  
Positive Results

Abstract BACKGROUND Noninvasive prenatal detection of fetal subchromosomal copy number aberrations (CNAs) can be achieved through massively parallel sequencing of maternal plasma DNA. However, when a mother herself is a carrier of a CNA, one cannot discern if her fetus has inherited the CNA. In addition, false-positive results would become more prevalent when more subchromosomal regions are analyzed. METHODS We used a strategy that combined count- and size-based analyses of maternal plasma DNA for the detection of fetal subchromosomal CNAs in 7 target regions for 10 test cases. RESULTS For the 5 cases in which CNAs were present only in the fetus, the size-based approach confirmed the aberrations detected by the count-based approach. For the 5 cases in which the mother herself carried an aberration, we successfully deduced that 3 of the fetuses had inherited the aberrations and that the other 2 fetuses had not inherited the aberrations. No false positives were observed in this cohort. CONCLUSIONS Combined count- and size-based analysis of maternal plasma DNA permits the noninvasive elucidation of whether a fetus has inherited a CNA from its mother who herself is a carrier of the CNA. This strategy has the potential to improve the diagnostic specificity of noninvasive prenatal testing.

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