scholarly journals Simultaneous detection of fetal aneuploidy, de novo FGFR3 mutations and paternally derived β‐thalassemia by a novel method of noninvasive prenatal testing

2020 ◽  
Author(s):  
Lin Yang ◽  
Yujing Wu ◽  
Zhiyang Hu ◽  
Haiping Zhang ◽  
Dandan Pu ◽  
...  
Keyword(s):  
De Novo ◽  
Simultaneous Detection ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Fetal Aneuploidy ◽  
Novel Method ◽  
Fgfr3 Mutations

Noninvasive Prenatal Testing for Fetal Aneuploidy

2013 ◽  
Vol 121 (4) ◽  
pp. 847-850 ◽  
Author(s):  
Mary E. Norton ◽  
Nancy C. Rose ◽  
Peter Benn
Keyword(s):  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Fetal Aneuploidy

Identification of a de novo fetal variant in osteogenesis imperfecta by targeted sequencing-based noninvasive prenatal testing

2018 ◽  
Vol 63 (11) ◽  
pp. 1129-1137 ◽  
Author(s):  
Xiuju Yin ◽  
Yang Du ◽  
Han Zhang ◽  
Zhandong Wang ◽  
Juan Wang ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
De Novo ◽  
Prenatal Testing ◽  
Targeted Sequencing ◽  
Noninvasive Prenatal Testing

Noninvasive Prenatal Testing for Fetal Aneuploidy in Argentina

2015 ◽  
Vol 6 (1) ◽  
pp. 111-114 ◽  
Author(s):  
Lucas Otaño ◽  
Laura Igarzábal
Keyword(s):  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Fetal Aneuploidy

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 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 Prenatal diagnosis of a de novo trisomy 20p detected by noninvasive prenatal testing

2021 ◽  
Author(s):  
Xu Yan ◽  
Haiying Peng ◽  
Changjun Zhang
Keyword(s):  
Prenatal Diagnosis ◽  
De Novo ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing

Clinical validation and reporting of noninvasive prenatal testing for fetal aneuploidy detection

2021 ◽  
Vol 132 ◽  
pp. S322-S323
Author(s):  
Casey Brewer ◽  
Andy Pao ◽  
Linda Majors ◽  
Mariam Ghochani ◽  
Mike Moradian ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Clinical Validation ◽  
Noninvasive Prenatal Testing ◽  
Fetal Aneuploidy

scholarly journals Detection of chromosomal rearrangements in the short arms of chromosomes 4 and 12 as an example of a whole-genome approach to noninvasive prenatal testing

2019 ◽  
pp. 15-18
Author(s):  
A. Yu. Goltsov ◽  
I. S. Mukosey ◽  
T. O. Kochetkova ◽  
J. Shubina ◽  
M. V. Kuznetsova ◽  
...  
Keyword(s):  
Clinical Case ◽  
High Throughput Sequencing ◽  
Chromosomal Rearrangements ◽  
Prenatal Testing ◽  
Analytical Techniques ◽  
Molecular Karyotyping ◽  
Whole Genome ◽  
Noninvasive Prenatal Testing ◽  
Fetal Aneuploidy ◽  
Generation Sequencing

Timely detection of fetal aneuploidy is an important aspect of clinical practice. At present, analytical techniques involving high-throughput sequencing are on the rise. Noninvasive prenatal testing (NIPT) ensures reliable results as early as week 9–11 into pregnancy. This article describes a clinical case of NIPT application and further verification of its results. Using next-generation sequencing, the microarray analysis of cell-free DNA in the amniotic fluid and the cytogenetic analysis of fetal chromosomes, a high risk of chromosomal rearrangements was detected in the short arms of chromosomes 4 and 12. This prediction was verified by molecular karyotyping conducted in both parents. The mother was found to be a balanced carrier of translocations between chromosomes 4 and 12. This case demonstrates the advantages of a whole-genome approach to NIPT over targeted-based.

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