ArticleMolecular cytogenetics2020
Application value of NIPT for uncommon fetal chromosomal abnormalities.
Article in Molecular cytogenetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 20 citations in OpenAlex.
- Diagnosis, treatment, and research status of rare diseases related to birth defects.Intractable & rare diseases research · 2023Review
- Reappraisal of evolving methods in non-invasive prenatal screening: Discovery, biology and clinical utility.Heliyon · 2023Review
- Efficiency of expanded noninvasive prenatal testing in the detection of fetal subchromosomal microdeletion and microduplication in a cohort of 31,256 single pregnancies.Scientific reports · 2022Article
- Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting.Diagnostics (Basel, Switzerland) · 2022Article
- A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes.Molecular cytogenetics · 2022Article
- Non-invasive prenatal testing for the detection of trisomy 13, 18, and 21 and sex chromosome aneuploidies in 68,763 cases.Frontiers in genetics · 2022Article
- Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by cell-free foetal DNA (cffDNA) testing: a case report.European journal of medical research · 2021Article
- Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases.Molecular cytogenetics · 2021Article
- Comprehensive Evaluation of Non-invasive Prenatal Screening to Detect Fetal Copy Number Variations.Frontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo investigate the clinical value of noninvasive prenatal testing (NIPT) for fetal chromosomal deletion, duplication, and sex chromosome abnormalities.
methodsThe study included 6239 pregnant women with singletons in the first and second trimester of pregnancy who received NIPT from December 2017 to June 2019. For pregnant women at high risk of deletion, duplication, and sex chromosome abnormalities indicated by NIPT, amniocentesis was recommended for karyotype analysis and chromosome copy number variation detection to verify the NIPT results and analyze chromosome abnormalities. Women at low risk and with no other abnormal results continued with their pregnancies.
resultsAmong the 6239 pregnant women who received NIPT, there were 15 cases of chromosomal deletion (12 cases confirmed by amniocentesis), 16 cases of chromosomal duplication (9 cases confirmed by amniocentesis), and 17 cases of sex chromosome abnormalities (11 cases confirmed by amniocentesis). Of these cases, 32 were finally confirmed by amniotic fluid cell karyotype analysis. The coincidence rate was 66.7% (32/48). There were no abnormalities found for the remaining low risk pregnant women during follow-up.
conclusionNIPT has good application value in predicting fetal chromosomal deletion, duplication, and sex chromosome abnormalities. It can improve the detection rate of fetal chromosomal abnormalities, but further prenatal diagnosis is needed.
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