149: NIPT for sex chromosome aneuploidy: initial clinical laboratory experience and biologic reasons for discordant results

Bianchi, Diana W.; Swanson, Amy; Parsa, Saba; Bhatt, Sucheta; Halks-Miller, Meredith; Sehnert, Amy J.; Rava, Richard P.

doi:10.1016/j.ajog.2013.10.182

Cited by 2 publications

(2 citation statements)

References 4 publications

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“…Some experts suggest combining maternal-plasma sequencing with maternal-WBC sequencing to avoid unnecessary invasive prenatal tests, assess the risk of X-linked disease to the fetus, and significantly improve NIPT’s accuracy for ChrX and ChrY [ 5 ]. Nevertheless, there are various biological reasons to consider, including maternal SCA mosaicism [ 18 ], vanishing twins, fetal under- or over-masculinization, CPM, or a maternal solid organ transplant [ 21 ] explain the discordance of NIPT sex chromosome result with that of sonographic or karyotype assessments.…”

Section: Discussionmentioning

confidence: 99%

“…Further analysis of 3 false-positive cases found that their Z scores were < 5, judged as a gray area according to the manufacturer's instructions. In the confirmed cases, 2 cases had a Z value of < 5, and the amniocentesis showed a trisomy 21 Also, there was one case in which a T21 diagnosis was missed. The pregnant woman was recalled for abnormal ultrasound screening and underwent a prenatal diagnosis for T21.…”

Section: Trisomy 21 18 13 Detections With Nipt Testmentioning

confidence: 96%

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Cell-free fetal DNA testing and its correlation with prenatal indications

Wang

Lyu

Qiao

et al. 2021

BMC Pregnancy Childbirth

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Background The prenatal test of cell-free fetal DNA (cffDNA) is also known as noninvasive prenatal testing (NIPT) with high sensitivity and specificity. This study is to evaluate the performance of NIPT and its clinical relevance with various clinical indications. Methods A retrospective analysis was conducted on 14,316 pregnant women with prenatal indications, including advanced maternal age (≥35 years), maternal serum screening abnormalities, the thickened nuchal translucency (≥2.5 mm) and other ultrasound abnormalities, twin pregnancy/IVF-ET pregnancy, etc. The whole-genome sequencing (WGS) of maternal plasma cffDNA was employed in this study. Results A total of 189 (1.32%) positive NIPT cases were identified, and 113/189 (59.79%)cases were confirmed by invasive prenatal testing. Abnormal serological screening (53.14%) was the most common indication, followed by elderly pregnancy (23.02%). The positive prediction value for T21, T18, T13, sex chromosome abnormalities, other autosomal aneuploidy abnormalities, and CNV abnormalities were 91.84, 68.75,37.50, 66.67, 14.29, and 6.45%, respectively. The positive rate and the true positive rate of nuchal translucency (NT) thickening were the highest (4.17 and 3.33%), followed by the voluntary requirement group (3.49 and 1.90%) in the various prenatal screening indications. The cffDNA concentration was linearly correlated with gestational age (≥10 weeks) and the positive NIPT group’s Z-score values. Conclusions whole-genome sequencing of cffDNA has extremely high sensitivity and specificity for T21, high sensitivity for T18, sex chromosome abnormalities, and T13. It also provides evidence for other abnormal chromosomal karyotypes (CNV and non-21/18/13 autosomal aneuploidy abnormalities). The cffDNA concentration is closely related to the gestational age and determines the specificity of NIPT. Our results highlight NIPT’s clinical significance, which is an effective prenatal screening tool for high-quality care of pregnancy.

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Section: Discussionmentioning

confidence: 99%

Section: Trisomy 21 18 13 Detections With Nipt Testmentioning

confidence: 96%

Cell-free fetal DNA testing and its correlation with prenatal indications

Wang

Lyu

Qiao

et al. 2021

BMC Pregnancy Childbirth

View full text Add to dashboard Cite

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

Badeau

Lindsay

Blais

et al. 2017

Cochrane Database of Systematic Reviews

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These results show that MPSS and TMPS perform similarly in terms of clinical sensitivity and specificity for the detection of fetal T31, T18, T13 and sex chromosome aneuploidy (SCA). However, no study compared the two approaches head-to-head in the same cohort of patients. The accuracy of gNIPT as a prenatal screening test has been mainly evaluated as a second-tier screening test to identify pregnancies at very low risk of fetal aneuploidies (T21, T18 and T13), thus avoiding invasive procedures. Genomics-based non-invasive prenatal testing methods appear to be sensitive and highly specific for detection of fetal trisomies 21, 18 and 13 in high-risk populations. There is paucity of data on the accuracy of gNIPT as a first-tier aneuploidy screening test in a population of unselected pregnant women. With respect to the replacement of invasive tests, the performance of gNIPT observed in this review is not sufficient to replace current invasive diagnostic tests.We conclude that given the current data on the performance of gNIPT, invasive fetal karyotyping is still the required diagnostic approach to confirm the presence of a chromosomal abnormality prior to making irreversible decisions relative to the pregnancy outcome. However, most of the gNIPT studies were prone to bias, especially in terms of the selection of participants.

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149: NIPT for sex chromosome aneuploidy: initial clinical laboratory experience and biologic reasons for discordant results

Cited by 2 publications

References 4 publications

Cell-free fetal DNA testing and its correlation with prenatal indications

Cell-free fetal DNA testing and its correlation with prenatal indications

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

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