Screening, prenatal diagnosis, and prenatal decision for sex chromosome aneuploidy

Xu, Yuan; Chen, Liyuan; Liu, Yang; Hao, Ying; Xu, Zhiyong; Deng, Liyanyan; Xie, Jiansheng

doi:10.1080/14737159.2019.1613154

Cited by 37 publications

(89 citation statements)

References 34 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…First, a study by Wang et al reported that 8.6% positive results for SCA were due to maternal mosaicism [21] , with other studies supporting this opinion [1,2,18] . Previous studies have demonstrated that identi cation of maternal karyotype will decrease the rate of false-positive SCA and can offer an explanation for the false-positive results for SCA [2,4,22,23] . Another reason for the discordant results is con ned placental mosaicism, which happens in approximately 1% of all pregnancies [2] .…”

Section: Discussionmentioning

confidence: 96%

“…Previous studies have demonstrated that identi cation of maternal karyotype will decrease the rate of false-positive SCA and can offer an explanation for the false-positive results for SCA [2,4,22,23] . Another reason for the discordant results is con ned placental mosaicism, which happens in approximately 1% of all pregnancies [2] . The origin of most cell-free fetal DNA in the maternal plasma is mostly from the apoptosis of placental cells from the cytotrophoblast [24] .…”

Section: Discussionmentioning

confidence: 99%

“…There are still some issues that require further consideration. Due to the low PPV of NIPT screening for SCA, this will increase unnecessary invasive prenatal diagnosis rate, especially for 45,X [2] . Some pregnant women will terminate pregnancy when their chromosomal abnormalities were accidentally discovered by SCA screening [31,32,33] , and this involves ethical issues regarding the mild phenotype of SCA and the potential increase in the rate of gender selection [2] .…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Clinical Experience with Fetal Sex Chromosome Aneuploidy Identified by Non-Invasive Prenatal Testing in 45773 Cases

Lü¹,

Wang²,

Sun³

et al. 2020

Preprint

View full text Add to dashboard Cite

Objective: To investigate the positive predictive value (PPV) and clinical features of non-invasive prenatal testing (NIPT) as a screening method in detecting sex chromosome aneuploidy (SCA) within a high-risk population at the Maternity and Child Health Hospital of Anhui Province.Methods: From June 2015 to June 2019, 45773 women with singleton pregnancies volunteered to take an NIPT. Cell-free fetal DNA was extracted for high-throughput sequencing and amniocentesis karyotype analysis was performed in pregnant women. Results: 314 high-risk pregnant women underwent NIPT and 143 chose invasive prenatal diagnosis. Karyotype analysis was performed in amniotic fluid cells, wherein 7 cases of 45,X (PPV: 12.50%), 16 cases of 47,XXX (PPV: 55.17%), 25 cases of 47,XXY (PPV: 71.43%), and 10 cases of 47,XYY(PPV: 76.92%) were confirmed. The PPV of NIPT for SCA was 40.56%. The rate of SCA detected in women aged 40 years and older was 0.39%, which was significantly different from that detected in women aged <30, 30–34, and 35–39 years (P < 0.05). The detection rates of 47,XXX and 47,XXY were significantly correlated with maternal age (P < 0.05), but those of 45,X and 47,XYY showed no significant correlation with maternal age.Conclusion: NIPT can be applied for the detection of SCA, but the detection accuracy is low. Genetic counseling and further prenatal diagnosis should be provided.

show abstract

Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Clinical Experience with Fetal Sex Chromosome Aneuploidy Identified by Non-Invasive Prenatal Testing in 45773 Cases

Lü¹,

Wang²,

Sun³

et al. 2020

Preprint

View full text Add to dashboard Cite

show abstract

“…Previous reports suggested that the sensitivity of NIPT for SCA screening could reach 88.6%~93.8%, but PPV could only reach approximately 50% [4,6,12]. The incidence of different types of SCA is very variable, and most of the previous studies have limited sample size, pregnancies with limited screening indications and the fluctuation range of PPV is various [6,12]. Hence, In the present retrospective study, we reviewed SCA cases that a largescale and found in non-selective pregnancies who underwent NIPT.…”

Section: Introductionmentioning

confidence: 98%

“…In addition to sensitivity and specificity, the positive predictive value (PPV) is also an important index in evaluating the detection ability of a screening method [11]. Previous reports suggested that the sensitivity of NIPT for SCA screening could reach 88.6%~93.8%, but PPV could only reach approximately 50% [4,6,12]. The incidence of different types of SCA is very variable, and most of the previous studies have limited sample size, pregnancies with limited screening indications and the fluctuation range of PPV is various [6,12].…”

Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis and pregnancy determination of sex chromosome aneuploidy screened by non-invasive prenatal testing from 52,453 unselected singleton pregnancies: a retrospective analysis of 4-year experience

Pei

et al. 2020

Preprint

View full text Add to dashboard Cite

Objective To estimate the positive predictive value (PPV) of fetal sex chromosome aneuploidy (SCA) screened in non-selective population and explore the rate of pregnancy termination and ultrasound findings for fetal SCA and the factors influencing parents’ decisions in South China. Methods This is a large-scale retrospective cohort of positive SCA screened from unselected singleton pregnancies by non-invasive prenatal testing (NIPT) from a single prenatal center of a tertiary hospital, from January 2016 to November 2019. Clinical information, indications, diagnostic results, ultrasound findings, pregnancy determinations, and follow-up were reviewed and analyzed. Results 248 cases of SCA positive were screened out of 52453, giving a positive detection rate of 0.47%. The majority of indications (42.7%) were low-risk pregnancies. After genetic counseling, 43 pregnancies (17.3%) declined to prenatal diagnosis, the rest of 205 cases (82.7%) conducted with amniocentesis to detect fetal chromosome, of which 95 were confirmed as true positive of SCA with PPV of 46.3% (95/205). The SCA consisted of 68 sex chromosomal trisomies (26 cases of 47,XXY, 20 cases of 47,XXX and 22 cases of 47,XYY), 17 cases of monosomy X (45,X), three cases of 48,XXYY, three cases of mosaicisms (45,X/46,XX), four cases with sex chromosomal deletions, included two cases of 46,X,del(Y)(q11.21), one case of 46,X,del(X)(p11) and one case of 46,X,i(X)(q10). Of the 95 cases confirmed as true positive SCA, 50 cases (52.6%)chose to terminate the pregnancy (82.6%, 64.3%, 17.6% and 33.3% for 45,X, 47,XXY, 47,XXX and 47,XYY, respectively), 45 cases (47.4%) elected to continue the pregnancy. Ninety-three pregnant were also continued pregnancy after the exclusion of SCA. Conclusions NIPT, as a first-tier routine method for screening autosomal aneuploidies, also could play an important role in screening SCA. Low-risk pregnant women are the main indication for the detection of SCA as NIPT test provides to non-selective population. The trend of overall termination rates of SCA-affected pregnancies is decreased. For 47,XXX and 47,XYY with mild phenotype, couples would like to continue the pregnancy. But for 45,X and 47,XXY, parents apt to terminate pregnancy no matter ultrasound abnormalities were found or not. pregnancy determinations are affected by types of SCA, sonographic findings, maternal age, and presence of infertility.

show abstract

Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence

Xie

Tan

et al. 2020

Molec Gen & Gen Med

View full text Add to dashboard Cite

BackgroundFollow‐up cytogenetic analysis has been recommended for cases with positive noninvasive prenatal screening (NIPS) results. This study of five cases with numerical and structural sex chromosomal abnormalities (SCA) and a review of large case series of NIPS provided guidance to improve prenatal diagnosis for SCA.MethodsFollowing positive NIPS results for SCA, karyotype analysis, chromosomal microarray analysis (CMA), fluorescence in situ hybridization (FISH), and locus‐specific quantitative PCR were performed on cultured amniocytes, chorionic villi cells, and stimulated lymphocytes. Review of large case series was performed to evaluate the NIPS positive rate, follow‐up rate of cytogenetic analysis, positive predictive value (PPV) for major types of SCA, and relative frequencies of subtypes of major SCA.ResultsOf the five cases with positive NIPS for SCA, case 1 showed a mosaic pattern of monosomy X and isodicentric Y; case 2 showed a mosaic pattern of monosomy X confined to the placenta; cases 3 and 4 had an isochromosome of Xq, and case 5 showed a derivative chromosome 14 from a Yq/14p translocation of maternal origin. Review of literature showed that mean positive rate of NIPS for SCA was 0.61%, follow‐up rate of cytogenetics analysis was 76%, and mean PPV for SCA was 48%. Mosaic patterns and structural rearrangements involving sex chromosomes were estimated in 3%–20% and 3% of SCA cases, respectively.ConclusionThese five cases further demonstrated the necessity to pursue follow‐up cytogenetic analysis to characterize mosaic patterns and structural abnormalities involving sex chromosomes and their value for prenatal genetic counseling. A workflow showing the performance of current NIPS and cytogenetic analysis for SCA was summarized. These results could facilitate an evidence‐based approach to guide prenatal diagnosis of SCA.

show abstract

Screening, prenatal diagnosis, and prenatal decision for sex chromosome aneuploidy

Cited by 37 publications

References 34 publications

Clinical Experience with Fetal Sex Chromosome Aneuploidy Identified by Non-Invasive Prenatal Testing in 45773 Cases

Clinical Experience with Fetal Sex Chromosome Aneuploidy Identified by Non-Invasive Prenatal Testing in 45773 Cases

Prenatal diagnosis and pregnancy determination of sex chromosome aneuploidy screened by non-invasive prenatal testing from 52,453 unselected singleton pregnancies: a retrospective analysis of 4-year experience

Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence

Contact Info

Product

Resources

About