Performance of noninvasive prenatal screening in twin pregnancies: a retrospective study of 5469 twin pregnancies

Bai, Ting; Liu, Sha; Liu, Jianlong; Jing, Xiangyi; Deng, Cechuan; Xia, Tianyu; Liu, Yunyun; Cheng, Jing; Li, Zhunduo; Wei, Xiangjin; Xing, Lingling; Luo, Youfu; Zhou, Quanfang; Luo, Wei; He, Bin; Han, Daiwen; Zhu, Qian; Liu, Hongqian

doi:10.1080/14767058.2021.1903860

Cited by 8 publications

(15 citation statements)

References 33 publications

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“…This procedure was described in our previous study ( Deng et al, 2019 ; Bai et al, 2021 ). Risks of fetal T21 and T18 were obtained based on maternal serum screening, and patients were divided into three groups: the low-risk, intermediate-risk, and high-risk groups.…”

Section: Maternal Serum Screeningmentioning

confidence: 99%

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Noninvasive Prenatal Screening Based on Second-Trimester Ultrasonographic Soft Markers in Low-Risk Pregnant Women

et al. 2021

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Background: We aimed to assess the clinical application of noninvasive prenatal screening (NIPS) based on second-trimester ultrasonographic soft markers (USMs) in low-risk pregnant women.Methods: Data of pregnant women between April 2015 and December 2019 were retrospectively analyzed. Pregnant women [age at expected date of confinement (EDC) of <35 years; low risks for trisomy 21 (T21) and trisomy 18 (T18) based on maternal serum screening; presenting second-trimester USMs (7 types)] who successfully underwent NIPS and had available follow-up information were included in our study. Cases with positive NIPS results were prenatally diagnosed. All patients were followed up for 6 months to 2 years after NIPS, and their clinical outcomes were obtained. Subgroup analyses were performed according to the different USMs.Results: NIPS suggested that among a total of 10,023 cases, 37 (0.37%) were at high risk of aneuploidy, including 4 T21, 6 trisomy 13 (T13), and 27 sex chromosome abnormalities (SCA). Ten cases with aneuploidy (0.10%) were confirmed by prenatal diagnosis, consisting of two T21 and eight SCA. The eight fetuses with SCA consisted of one monosomy X, two XXY, one XXXY, one XXX, one XYY, and two mosaicisms. T21 was detected in one fetus with absent or hypoplastic nasal bone and one fetus with echogenic intracardiac focus (EICF). SCA was detected in five fetuses with EICF, two fetuses with multiple soft markers, and one fetus with echogenic bowel. The positive rate of chromosomal aneuploidy was significantly higher in fetuses with absent or hypoplastic nasal bone (6.25 vs. 0.10%, p = 0.017), echogenic bowel (3.7 vs. 0.10%, p = 0.029), and multiple soft markers (0.678 vs. 0.10%, p = 0.045) than in the total fetuses. The positive predictive values (PPVs) of NIPS in these three groups were 100%, 50%, and 100%, respectively. EICF accounted for 93.25% (9,346/10,023) of the study population, whereas the PPV of NIPS was only 20%.Conclusion: NIPS is an advanced screening test for low-risk pregnant women. In the 10,023 pregnant women sampled, SCA were more common than autosomal trisomy, and EICF was the most frequent USM but the least predictive aneuploidy. Further aneuploidy evaluation is suggested for low-risk pregnant women whose ultrasound indicates absent or hypoplastic nasal bone, echogenic bowel, or multiple soft markers. NIPS can serve as a second-line complementary screening for these women.

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Section: Maternal Serum Screeningmentioning

confidence: 99%

“…A Z -score value of chromosome 21, 18, or 13 ranging from −3 to 3 indicated a low risk of NIPS. The method for calculating the Z -score value of chromosomes X and Y was described in our previous study ( Bai et al, 2021 ).…”

Section: Maternal Serum Screeningmentioning

confidence: 99%

Noninvasive Prenatal Screening Based on Second-Trimester Ultrasonographic Soft Markers in Low-Risk Pregnant Women

et al. 2021

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“…The higher screening performance of cfDNA in twin pregnancies is advantageous as it reduces miscarriage risk and the need for unnecessary invasive testing [ 21 , 29 ]. Some studies have reported a lower invasive testing rate after cfDNA screening [ 4 , 37 ]. However, the number of cases of trisomies 18 and 13 was relatively small for a precise evaluation of the clinical performance of cfDNA screening.…”

Section: Performance Of Cfdna Screening For Aneuploidy In Twin Pregna...mentioning

confidence: 99%

“…However, some studies have demonstrated the potential of cfDNA screening for common SCA in twin pregnancies. Bai et al [ 4 ] identified four cases of SCA with 100% sensitivity (95% CI, 39.6–100%) and 99.8% specificity (95% CI, 99.5–99.9%) for cfDNA screening. The positive predictive value (PPV) was 40% (95% CI, 13.7–72.6%), and the negative predictive value was 100% (95% CI, 99.8–100%), which were similar to those in singleton pregnancies [ 4 ].…”

Section: Performance Of Cfdna Screening For Aneuploidy In Twin Pregna...mentioning

confidence: 99%

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Cell-free DNA screening in twin pregnancies

Boo,

Han

2024

Obstet Gynecol Sci

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Cell-free DNA (cfDNA) screening for fetal aneuploidies is clinically available and exhibits better performance than conventional serum screening tests. However, data on the clinical performance of cfDNA screening in twin pregnancies are limited. In this review, we summarized the clinical performance and evaluated the feasibility of cfDNA screening in twin pregnancies based on recent studies and recommendations. The performance of cfDNA screening for trisomy 21 in twin pregnancies is similar to that in singleton pregnancies. Specifically, cfDNA screening has a higher detection rate and lower false-positive rate compared with conventional serum screening. Consequently, recent international guidelines from several academic communities have recommended that cfDNA screening for aneuploidy in twin pregnancies could be considered. Moreover, twin pregnancies can present with specific conditions, such as different zygosities and vanishing twins; therefore, individualized counseling and management are required. Further clinical studies with more twin pregnancies are required for a more accurate analysis.

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Cell‐free DNA screening for common autosomal trisomies using rolling‐circle replication in twin pregnancies

Vivanti,

Maestroni,

Benachi

et al. 2024

Prenatal Diagnosis

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ObjectiveTo evaluate the performance of prenatal screening for common autosomal trisomies in twin pregnancies through the use of rolling‐circle replication (RCR)‐cfDNA as a first‐tier test.MethodProspective multicenter study. Women who underwent prenatal screening for trisomy (T) 21, 18 and 13 between January 2019 and March 2022 in twin pregnancies were included. Patients were included in two centers. The primary endpoint was the rate of no‐call results in women who received prenatal screening for common autosomal trisomies by RCR‐cfDNA at the first attempt, compared to that in prospectively collected samples from 16,382 singleton pregnancies. The secondary endpoints were the performance indices of the RCR‐cfDNA.Results862 twin pregnancies underwent screening for T21, T18 and T13 by RCR‐cfDNA testing at 10–33 weeks' gestation. The RCR‐cfDNA tests provided a no‐call result from the first sample obtained from the patients in 107 (0.7%) singleton and 17 (2.0%) twin pregnancies. Multivariable regression analysis demonstrated that significant independent predictors of test failure were twin pregnancy and in vitro fertilization conception.All cases of T21 (n = 20/862; 2.3%), T18 (n = 4/862; 0.5%) and T13 (n = 1/862; 0.1%) were correctly detected by RCR‐cfDNA (respectively, 20, 4 and 1 cases). Sensitivity was 100% (95% CI, 83.1%–100%), 100% (95% CI 39.8%–100%) and 100% (95% CI 2.5%–100%) for T21, T18 and T13, respectively, in twin pregnancies.ConclusionThe RCR‐cfDNA test appears to have good accuracy with a low rate of no‐call results in a cohort of twin pregnancies for the detection of the most frequent autosomal trisomies.

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Performance of noninvasive prenatal screening in twin pregnancies: a retrospective study of 5469 twin pregnancies

Cited by 8 publications

References 33 publications

Noninvasive Prenatal Screening Based on Second-Trimester Ultrasonographic Soft Markers in Low-Risk Pregnant Women

Noninvasive Prenatal Screening Based on Second-Trimester Ultrasonographic Soft Markers in Low-Risk Pregnant Women

Cell-free DNA screening in twin pregnancies

Cell‐free DNA screening for common autosomal trisomies using rolling‐circle replication in twin pregnancies

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