Non-invasive Prenatal Testing For Detection Research Articles

Clinical Potential of Expanded Noninvasive Prenatal Testing for Detection of Aneuploidies and Microdeletion/Microduplication Syndromes.

We aimed to evaluate the clinical performance of expanded noninvasive prenatal testing (NIPT-Plus) for the detection of aneuploidies and microdeletion/microduplication syndromes. A total of 7177 pregnant women were enrolled in the study from June 2020 to March 2022 at Xijing Hospital, China. Cases with NIPT-Plus-positive results were further confirmed by chromosomal karyotyping and a chromosomal microarray analysis. A total of 112 positive cases (1.56%) were identified by NIPT-Plus, including 60 chromosome aneuploidies and 52 microdeletion/microduplication syndromes. Ninety-five cases were validated by amniocentesis, and 57 were confirmed with true-positive results, comprising 18 trisomy 21, 4 trisomy 18, 1 trisomy 13, 17 sex chromosome aneuploidies, 1 other aneuploidy, and 16 microdeletion/microduplication syndromes. The positive predictive value of total chromosomal abnormalities was 60% (57/95). For trisomy 21, trisomy 18, trisomy 13, sex chromosome aneuploidies, other aneuploidies and microdeletion/microduplication syndromes, the sensitivity was all 100%, the specificity was 100, 99.986, 100, 99.888, 99.958, and 99.636%, and the positive predictive value was 100, 80, 100, 68, 25, and 38.10%, respectively. For all clinical characteristics, the abnormal maternal serum screening group was found to have the highest prevalence of chromosomal abnormalities (1.54%), and the ultrasound abnormality group presented the highest positive predictive value (73.33%). NIPT-Plus has great potential for the detection of aneuploidies and microdeletion/microduplication syndromes owing to its high sensitivity, safety, and specificity, which greatly reduces unnecessary invasive procedures and the risk of miscarriage and allows informed maternal choice.

Introducing the non-invasive prenatal testing for detection of Down syndrome in China: a cost-effectiveness analysis

ObjectiveThis study aimed to compare the health economic value of a non-invasive prenatal testing (NIPT) strategy against a second-trimester triple screening (STS) strategy for the detection of Down syndrome based...

Non-invasive prenatal testing for detection of trisomy 13, 18, 21 and sex chromosome aneuploidies in 8594 cases.

Cell-free fetal DNA has been widely used in prenatal genetic testing during recent years. We explored the feasibility of non-invasive prenatal testing (NIPT) for analysis of common fetal aneuploidies among pregnancies in northwest China. A total of 8594 maternal blood samples were collected from October 2014 to December 2017 in the Department of Obstetrics and Gynecology at the First Affiliated Hospital of the Air Force Medical University. Cases with positive screening results by NIPT detection were validated using karyotype analysis. Of 8594 clinical pregnancies, 88 had positive NIPT results and 78 of 88 (88.6%) positive NIPT results were shown to be false-positive by amniotic fluid puncture and chromosome karyotyping analysis. There were 44 cases (49.44%) with trisomy 21, 18, and 13 syndromes (30 cases of trisomy 21, 9 cases of trisomy 18, and 5 cases of trisomy 13). There were 44 cases (50.56%) with sex chromosome abnormalities, including 11 cases with Turner syndrome (45, X), 17 cases with Triple X syndrome (47, XXX), 2 cases with Klinefelter syndrome (47, XXY), and 14 cases with 47, XYY syndrome (47, XYY). The accuracy, specificity, high efficiency, and acceptance of NIPT can effectively avoid birth defects and improve the quality of the birth population. We should deepen mining and analysis of the clinical data and explore ways to use NIPT. It is recommended that the NIPT guidelines be extended to low-risk patients to further explore the impact of a significant increase in screening.

Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.

Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.

Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women

Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women

Women's Perspectives on Noninvasive Prenatal Testing for Detection of Sex Chromosome Abnormalities and Microdeletions [284

INTRODUCTION: Noninvasive prenatal testing offers risk assessment for trisomy 21, 18, and 13, as well as sex chromosome abnormalities and select microdeletion syndromes. METHODS: We conducted focus groups to explore patients' views about noninvasive prenatal testing to assess fetal risk of sex chromosome abnormalities and microdeletions. RESULTS: Thirty-one women (mean age 32.4 years) participated in the focus group discussions; 10 women had noninvasive prenatal testing. Most participants were unfamiliar with sex chromosome abnormalities. Of those who underwent noninvasive prenatal testing (10), most (90.0%, n=9) were aware that noninvasive prenatal testing could identify fetal sex before testing and half (n=5) were aware of the test's ability to detect sex chromosome abnormalities. Participants were more familiar with trisomy 21, 18, and 13 than sex chromosome abnormalities and microdeletion syndromes and recommended that, at a minimum, clinicians provide information about all conditions being assessed before undergoing noninvasive prenatal testing. Participants were uncertain about the benefit of testing for microdeletions because of lack of familiarity with these conditions and resulting medical and cognitive disabilities. Because of the volume of information gained from noninvasive prenatal testing compared with serum analyte screening, participants also recommended that provision of information about sex chromosome abnormalities and microdeletions be individualized to the needs and preferences of patients considering their testing options. CONCLUSION AND IMPLICATION: These findings support the need for clinicians to inform patients about all conditions that noninvasive prenatal testing can detect at the time of test introduction to the patient.

Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease

What's already known about this topic? Noninvasive prenatal testing for detection of trisomies 21, 18, and 13 is clinically available and is reported to have a false positive rate of 1% or less This technology utilizes massively parallel shotgun sequencing of cell‐free DNA, of maternal and placental origin, present in maternal plasmaWhat does this study add? Unexplained abnormal noninvasive prenatal testing results should prompt consideration of a maternal source of the abnormal cell‐free DNA, such as malignancy