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

Sun, Xiaohan; Lu, Jianbo; Ma, Xu

doi:10.1371/journal.pone.0215368

Cited by 10 publications

(9 citation statements)

References 31 publications

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“…These cases are often missed due to the low incidence rate in early childhood; healthcare follow-up appointments tend to occur during this period, thus missing the best period for intervention and therapy. Because abnormal sex chromosomes are often accompanied by reproductive system damage and endocrine disorders, the risk of diabetes, heart disease, and tumor disease is also greatly increased in such cases [2,19,20]. Therefore, screening for fetal sex chromosome abnormalities is crucial.…”

Section: Discussionmentioning

confidence: 99%

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Application value of NIPT for uncommon fetal chromosomal abnormalities

Yin

Tang

et al. 2020

Mol Cytogenet

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Objective: To investigate the clinical value of noninvasive prenatal testing (NIPT) for fetal chromosomal deletion, duplication, and sex chromosome abnormalities. Methods: The 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. Results: Among 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. Conclusion: NIPT 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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Section: Discussionmentioning

confidence: 99%

“…Chromosomal abnormalities and gene mutations are the main causes of genetic disorders [ 1 ]. Of all fetal chromosomal abnormalities, most are chromosomal aneuploidy abnormalities [ 2 – 4 ]. At present, there is no effective method of treatment for chromosomal disorders.…”

Section: Introductionmentioning

confidence: 99%

Application value of NIPT for uncommon fetal chromosomal abnormalities

Yin

Tang

et al. 2020

Mol Cytogenet

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“…Maternal peripheral blood was collected in EDTAcontaining tubes before invasive obstetrics procedures. All blood samples were collected before performing any invasive procedures (Sun et al, 2019).…”

Section: Methodsmentioning

confidence: 99%

“…The maternal plasma's cell-free fetal DNA fragments are much shorter than the DNA fragments derived maternal DNA molecules. The fractional fetal DNA concentration is a paramount factor for determining the overall performance of NIPT based on the analysis of DNA in maternal plasma (Sun et al, 2019). Based on the different regional distributions derived from the length of fetal and maternal DNA-free fragments, it is possible to further explore the relationship between the two based on this principle.…”

Section: Introductionmentioning

confidence: 99%

Two approaches for calculating female fetal DNA fraction in noninvasive prenatal testing based on size analysis of maternal DNA fragments

Lu¹,

Sun²,

Ma³

2022

Biocell

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The concentration of cell-free fetal DNA fragments should be detected before noninvasive prenatal testing (NIPT). The fetal DNA molecules have significant clinical potential in determining the overall performance of NIPT and clinical interpretation. It is important to measure fetal DNA fraction before NIPT. However, there is still little research on how to calculate the concentration of female fetuses. Two estimation approaches were proposed to calculate fetal DNA fraction, including the fragments size-based approach, aneuploid-based approach, which are all approaches based on chromosome segments. Based on high-throughput sequencing data, two approaches to calculate the DNA fraction of male fetuses were tested and obtained the experiment values, which were close to the actual values. The correlation coefficient of fragments size-based approach was 0.9243 (P < 0.0001) and the aneuploid-based approach reached 0.9339 (P < 0.0001). We calculated the concentration of female fetuses and obtained remarkable experimental results. We came up with two approaches for calculating the fetal DNA fraction of female fetuses. It provides an important theoretical basis for the detection of female fetal concentration in future clinical diagnosis.

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“…NIPT is widely used today, it is especially applied for the screening of autosomal trisomies, with the advantage of not requiring invasive sampling and having high accuracy, sensitivity and specificity [20]. Based on multiple meta-analyses, false positive rates range between 0.04% and 0.06% for the autosomal trisomies 21, 18 and 13.…”

Section: Introductionmentioning

confidence: 99%

Genetic Counseling and Management: The First Study to Report NIPT Findings in a Romanian Population

et al. 2022

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Background and Objectives: Non-invasive prenatal testing (NIPT) has been confirmed as the most accurate screening test for trisomies 21, 18, 13, sex chromosomes aneuploidies and several microdeletions. This study aimed to assess the accuracy of cell free DNA testing based on low-level whole-genome sequencing to screen for these chromosomal abnormalities and to evaluate the clinical performance of NIPT. Materials and Methods: 380 consecutive cases from a single genetic center, from Western Romania were included in this retrospective study. Cell-free nucleic acid extraction from maternal blood, DNA sequencing and analysis of sequenced regions were performed by BGI Hong Kong and Invitae USA to determine the risk of specific fetal chromosomal abnormalities. In high-risk cases the results were checked by direct analysis of fetal cells obtained by invasive methods: 6 chorionic villus sampling and 10 amniocenteses followed by combinations of QF-PCR, karyotyping and aCGH. Results: NIPT results indicated low risk in 95.76% of cases and high risk in 4.23%. Seven aneuploidies and one microdeletion were confirmed, the other results were found to be a false-positive. A gestational age of up to 22 weeks had no influence on fetal fraction. There were no significant differences in fetal fraction across the high and low risk groups. Conclusions: This is the first study in Romania to report the NIPT results. The confirmation rate was higher for autosomal aneuploidies compared to sex chromosome aneuploidies and microdeletions. All cases at risk for trisomy 21 were confirmed. Only one large fetal microdeletion detected by NIPT has been confirmed. False positive NIPT results, not confirmed by invasive methods, led to the decision to continue the pregnancy. The main limitation of the study is the small number of patients included. NIPT can be used as a screening method for all pregnancies, but in high-risk cases, an invasive confirmation test was performed.

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

Cited by 10 publications

References 31 publications

Application value of NIPT for uncommon fetal chromosomal abnormalities

Application value of NIPT for uncommon fetal chromosomal abnormalities

Two approaches for calculating female fetal DNA fraction in noninvasive prenatal testing based on size analysis of maternal DNA fragments

Genetic Counseling and Management: The First Study to Report NIPT Findings in a Romanian Population

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