Rare autosomal trisomies on non‐invasive prenatal testing: not as adverse as expected

He, Yanan; Liu, Y.‐H.; Xie, Run-Gui; Liu, S.‐A.; Li, D.‐Z.

doi:10.1002/uog.20264

Cited by 16 publications

(25 citation statements)

References 5 publications

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“…In our study, four pregnancies from positive cases of RAAs had abnormal pregnancy outcomes, which is a similar proportion to that found in previous reports. 8,9 However, this value is much lower than that in several other studies in which pregnancy complications, such as miscarriage, fetal mosaicism, and UPD, as well as intrauterine growth restriction, occurred in the majority of positive cases of RAAs by NIPT. 7,10,30 The discrepant results for pregnancy outcomes from these different studies causes difficulty in genetic counseling for these positive cases.…”

Section: Discussionmentioning

confidence: 55%

“…Notably, the frequency of RAAs and the proportion of abnormal pregnancy outcomes in these cases largely vary. [6][7][8][9][10] Therefore, more clinical information on the incidence and pregnancy outcome are urgently required to facilitate genetic counseling and relieve the anxiety of affected couples. Positive NIPT results for RAAs increase the risk of pregnancy complications, including miscarriage, intrauterine growth restriction, fetal mosaicism, confined placental mosaicism (CPM), and uniparental disomy (UPD).…”

Section: Introductionmentioning

confidence: 99%

“…Positive NIPT results for RAAs increase the risk of pregnancy complications, including miscarriage, intrauterine growth restriction, fetal mosaicism, confined placental mosaicism (CPM), and uniparental disomy (UPD). [6][7][8][9][10] Furthermore, invasive diagnostic procedures, such as amniocentesis and chorionic villus sampling, are associated with an additional risk of fetal loss. 11 Therefore, the balance between the risk of invasive diagnostic procedures and the potential risk of suspected RAAs on pregnancy should be fully evaluated before opting for invasive diagnostic testing.…”

Section: Introductionmentioning

confidence: 99%

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Clinical management of pregnancies with positive screening results for rare autosomal aneuploidies at a single center

et al. 2020

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Objective To review our experiences on clinical management of pregnancies with positive noninvasive prenatal testing (NIPT) results for rare autosomal aneuploidies (RAAs) at a single center. Methods We performed a retrospective study and reviewed data from 18,016 pregnancies undergoing NIPT at a single center in China from March 2017 to February 2020. Depending on the patient’s choice, women with positive screening results for RAAs underwent chromosomal microarray analysis for invasive prenatal diagnosis. Results Thirty-three positive cases for RAAs were identified, with a positive screening rate of 0.18%. The most common RAA was trisomy 7 (33.3%), while trisomies for other chromosomes were less frequent. Monosomies involving chromosomes 16, 14, and 22 were observed. Twenty-eight cases of RAAs underwent invasive diagnosis. Abnormal pregnancy outcomes were observed in four cases, including true fetal mosaicism (n=1), partial uniparental disomy (n=1), miscarriage (n=1), and structural anomalies on ultrasound (n=1). Conclusions RAAs at NIPT might be associated with fetal uniparental disomy, mosaic aneuploidy, and poor pregnancy outcomes, but most positive cases have normal pregnancy outcomes. For RAAs, genetic counseling on the potential risks of abnormal NIPT results, as well as on benefits and limitations of invasive prenatal diagnosis, might help guide clinical management.

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Section: Discussionmentioning

confidence: 55%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Clinical management of pregnancies with positive screening results for rare autosomal aneuploidies at a single center

et al. 2020

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“…In the Diane Van O with his colleagues' research, they found that cases with abnormal NIPT T16 results most likely caused by placental aberration mostly manifests IUGR or SGA [13]. Another research of Yi H et al showed IUGR could found in the 20% of CPM cases for T16 detected by NIPT with the evidence of placenta [14]. And in recently study, T16 was considered as the only individual RAT worth looking for and reporting through cfDNA screening, which associated with poor outcomes [15].…”

Section: Discussionmentioning

confidence: 95%

Pregnancy Outcomes in Trisomy 16 Mosaicism Pregnancies Detected by NIPT, A Series of Case Reports

Peng

Yang

Wang

et al. 2021

Preprint

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Trisomy 16 s often associated with a high risk of abnormal outcome. A retrospective analysis of 14 cases with T16 high risk in NIPT, and all had undergone prenatal diagnosis, including karyotype and CMA. NIPT had detected 11 of T16, 2 of T16 mosaisism, and 1of more Chr. 16. Prenatal diagnosis confirmed 5 true positive cases and 9 false positive cases. In the 5 true positive cases, 3 out of 5 cases had ultrasound abnormality. In the 9 false positive cases, all the pregnancies continued. All the pregnancies were born with low weight (<2.5kg) except case 7. There were two pregnancies with premature, which suggested that CPM 16 pregnancies may be at higher risk for preterm delivery. NIPT could serve as a fast and early prenatal screening to provide guidance for pregnancy and termination of pregnancy is medically safer when it is performed in the earlier pregnancy.

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“…Rare autosomal aneuploidies were the most common findings using genome-wide NIPT analysis in addition to targeted chromosomal aneuploidies, 18,19 and they were always confirmed to be false positives. He et al 20 suggested that the PPV and pregnancy outcomes might be influenced by the duration of gestation at NIPT as well as the indications; the later the gestation stage during NIPT testing, the less likely the fetus was affected. In the study province, NIPT is usually performed at a relatively late gestation stage at around 14 weeks, compared with 10 weeks 19 or 12 weeks 20 in other reports.…”

Section: Discussionmentioning

confidence: 99%

Clinical Review of Noninvasive Prenatal Testing

Liu

Xie

et al. 2020

The Journal of Molecular Diagnostics

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or xiliangpu@ fjmu.edu.cn.A total of 551 pregnancies with positive results for noninvasive prenatal testing (NIPT) using traditional karyotyping and chromosomal microarray analysis were analyzed. Confirmatory results, positive predictive values, etiology exploration of false-positive results, and pregnancy outcomes were recorded. The study demonstrated that NIPT performed better in predicting trisomy 21 and trisomy 18 for pregnancies with advanced maternal age than for pregnancies with young maternal age; as for trisomy 13 and sex chromosomal aneuploidy (SCA) prediction, there was no significant difference between the two groups. The positive predictive values for trisomy 21, trisomy 18, trisomy 13, and SCA showed no significant upward trend when compared based on specific age categories (an interval of 5 years), which suggested that NIPT-positive result deserves equal attention from both providers and patients regardless of maternal age. In addition, the termination rates of 45,X, 47,XXY, 47,XXX, and 47,XYY were 100% (2/2), 92.9% (26/28), 33.3% (5/15), and 9.5% (2/21), respectively, which demonstrated that the decision-making regarding pregnancies varied greatly according to the types of SCAs, and further reinforce the importance of confirmatory prenatal diagnosis. The current study also supported the viewpoint that confined placental mosaicism and maternal mosaicism were the important etiology of false-positive results.

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Rare autosomal trisomies on non‐invasive prenatal testing: not as adverse as expected

Cited by 16 publications

References 5 publications

Clinical management of pregnancies with positive screening results for rare autosomal aneuploidies at a single center

Clinical management of pregnancies with positive screening results for rare autosomal aneuploidies at a single center

Pregnancy Outcomes in Trisomy 16 Mosaicism Pregnancies Detected by NIPT, A Series of Case Reports

Clinical Review of Noninvasive Prenatal Testing

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