Noninvasive prenatal screening for fetal sex chromosome aneuploidies

Deng, Cechuan; Cheung, Sau Wai; Liu, Hongqian

doi:10.1080/14737159.2021.1911651

Cited by 15 publications

(9 citation statements)

References 124 publications

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“…Numerous studies have shown that NIPT‐plus detects common fetal chromosome aneuploidies with high sensitivity and specificity compared with conventional methods (Kim et al, 2021; Merriel et al, 2021; Vossaert et al, 2021). While it varied widely in different centers, the PPV range of T21 was 79%–94%, of T18 was 54vs.–85%, and of T13 was 13vs.–62% (Deng et al, 2021; Hu et al, 2019). Our study showed that NIPT‐plus has a high PPV for T21 (86.0%), T18 (79.5%) and T13 (54.5%), which was consistent with previous researches (Van den Bogaert et al, 2021).…”

Section: Discussionmentioning

confidence: 99%

Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies

Chen

Zhang

et al. 2022

American J of Med Genetics Pt A

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The aim of this study was to determine the predictive value of expanded noninvasive prenatal testing (NIPT‐plus) for fetal chromosome abnormalities in the second trimester (12–26 weeks). We conducted a retrospective cohort study of 39,580 pregnancies with NIPT‐plus. Screening positive cases were diagnosed with karyotyping and single‐nucleotide polymorphism array analysis (SNP array)/copy number variation sequencing (CNV‐seq) with follow‐up. The positive predictive values (PPVs) of trisomy 21, 18, and 13 (T21, T18, and T13), sex chromosome aneuploidies (SCAs), and microdeletion and microduplication syndromes (MMS) by NIPT‐plus were recorded. We assessed the predictive value of NIPT‐plus based on maternal age and conventional indications. Of 39,580 pregnancies with NIPT‐plus, 511 (1.3%) had prenatal screening positive results of fetal chromosome abnormality, of which 87.7% (448/511) had invasive prenatal diagnosis. NIPT‐plus performed better in predicting fetal SCAs and chromosome aneuploidies for pregnancies with advanced maternal age (AMA) than young maternal age (YMA). Besides, the PPVs of T21, T13, and chromosome aneuploidies showed an upward trend when comparison was based on maternal age in 5‐year subintervals. The termination rates of 45,X, 47,XXX, 47,XXY, and 47,XYY were 100% (11/11), 20.0% (3/15), 91.7% (22/24), and 7.1% (1/14) with postnatal follow‐up. Last but not least, the PPV for MMS is 41.7% (30/72), which may have a positive correlation between the size of CNVs. Pregnant women with screen‐positive results for common trisomies (T13, T18, and T21) were more willing to conduct invasive prenatal diagnosis compared to those with positive results for SCAs or MMS. However, the current study demonstrated SCAs and MMS had the lowest PPV. This highlights the importance of confirmatory prenatal diagnosis in those patients and the potential impact on genetic counseling and informative decision‐making.

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Section: Discussionmentioning

confidence: 99%

Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies

Chen

Zhang

et al. 2022

American J of Med Genetics Pt A

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“…However, there are still some issues that should be considered carefully in the clinical practice of NIPT-Plus. Firstly, the screening performance of NIPT-Plus for SCA and MMS is not as good as that for T21 and T18 (21,22). Secondly, the phenotypes of SCA and MMS are milder than those of common aneuploidy, and the limited ultrasound phenotypes of intrauterine fetuses present greater challenges to clinical genetic counseling, as well as more anxiety and burden for couples in pregnancy selection.…”

Section: Discussionmentioning

confidence: 99%

The role of non-invasive prenatal testing and ultrasound in prenatal screening of fetal chromosomal abnormalities in singleton: a retrospective study

Yuan¹,

Yong²,

Dai³

et al. 2023

Ann Transl Med

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Background Non-invasive prenatal testing (NIPT) has good screening performance for common chromosomes, but it may have false positive (FP) and false negative (FN) results for various reasons. For abnormal NIPT results, the combination of fetal ultrasound phenotypes will provide more fetal information for prenatal diagnosis. The aim of this study was to combine NIPT and ultrasound phenotypes to analyze their complementary roles in prenatal screening of fetal chromosome abnormalities. Methods From January 2018 to December 2021, 12,803 pregnant women with singleton who successfully underwent NIPT/expanded NIPT (NIPT-Plus) at Xiangya Hospital of Central South University, of which 111 cases were positive results and one case was FN result. We retrospectively collected the clinical features, ultrasonographic findings, prenatal diagnosis, and pregnancy outcomes of these 112 pregnant women and analyzed the ultrasonic manifestations of different chromosomal abnormalities in detail. Results The positive predictive values (PPVs) of NIPT/NIPT-Plus for trisomy (T)21, T18, sex chromosome abnormality (SCA), microdeletion/microduplication syndrome (MMS), T13, and rare autosomal trisomy (RAT) were 100.0%, 85.7%, 57.1%, 44.4%, 40.0%, and 7.7%, respectively. The total termination rates of pregnancy for T21, T18, T13, SCA, pathogenic MMS, and RAT were 93.5%, 100.0%, 100.0%, 66.7%, 100.0%, and 100.0%, respectively. From the karyotypes of SCA live-born fetuses, 47,XYY and 47,XXX were more likely to be selected for continued pregnancy. The ultrasound phenotypes of T21 were diverse, including normal, soft marker, and structural malformation. Both T18 and T13 had structural malformations as the main phenotypes. Most ultrasound phenotypes of FP T21, T18, and T13 were normal but occasionally manifested as fetal growth restriction (FGR). The ultrasound phenotypes of SCA, MMS, and RAT were relatively mild and manifested as normal, soft marker, FGR, or polyhydramnios, and the ultrasound phenotypes were similar between FP and true positive (TP) cases. Conclusions Ultrasound phenotypes are helpful in identifying FP NIPT/NIPT-Plus results, especially for T18 and T13. Given its mild ultrasound phenotypes, NIPT-Plus has important clinical significance in reducing the missed diagnosis of SCA, MMS, and RAT, but its screening performance needs to be further improved.

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“…Conversely, if mosaicism is only detected in the cytotrophoblast but not in the mesenchymal core culture, this is almost never associated with true fetal mosaicism. 13,14 Common Aneuploidies: Trisomy 13, 18, and 21…”

Section: Confined Placental Mosaicismmentioning

confidence: 99%

Chorionic Villous Testing Versus Amniocentesis After Abnormal Noninvasive Prenatal Testing

ROGERS,

MARDY

2023

Clinical Obstetrics &Amp; Gynecology

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In the setting of a normal first-trimester ultrasound, an amniocentesis may be a better option than chorionic villous sampling for invasive diagnostic testing after a cell-free DNA high risk for trisomy 13, given the high rates of confined placental mosaicism. In unaffected fetuses, other evaluations should be considered depending on the cell-free DNA results, including maternal karyotyping for monosomy X, uniparental disomy testing for chromosomes with imprinted genes, serial growth scans for trisomy 16, and a workup for maternal malignancy for multiple aneuploidies or autosomal monosomy.

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Noninvasive prenatal screening for fetal sex chromosome aneuploidies

Cited by 15 publications

References 124 publications

Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies

Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies

The role of non-invasive prenatal testing and ultrasound in prenatal screening of fetal chromosomal abnormalities in singleton: a retrospective study

Chorionic Villous Testing Versus Amniocentesis After Abnormal Noninvasive Prenatal Testing

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