Non-invasive prenatal screening of fetal sex chromosomal abnormalities: perspective of pregnant women

Lau, Tze Kin; Chan, M; Lo, Pui Shan Salome; Chan, Hon Yee Connie; Chan, W K; Koo, Tik Yee; Ng, Hoi Yan; Pooh, Ritsuko K.

doi:10.3109/14767058.2012.712569

Cited by 27 publications

(29 citation statements)

References 15 publications

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“…However, most patients would like to be informed if fetal SCA is suspected [12] and our data confirm this. We show that patients at earlier gestational age are more likely to also ask for SCA screening, probably with the idea that if such an abnormality is discovered early in gestation, they would more easily opt for TOP.…”

Section: Comparison With Previous Studiessupporting

confidence: 77%

Screening for Sex Chromosome Aneuploidy by Cell-Free DNA Testing: Patient Choice and Performance

Bevilacqua

Ordóñez²,

Hurtado

et al. 2017

Fetal Diagn Ther

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Objective: To study patient choice regarding testing for sex chromosome aneuploidy (SCA) and the performance of cell-free DNA (cfDNA) screening for SCA. Methods: Patient choice regarding screening for SCA and factors influencing this choice were evaluated in a single center. In a subsequent two-center study, cases that screened positive for SCA were analyzed to determine the positive predictive value (PPV) for each SCA. Results: In all, 1,957 (61.9%) of the 3,162 patients undergoing cfDNA testing opted for SCA screening. Regression analysis demonstrated that independent predictors of a patient's decision for SCA were earlier gestational age, spontaneous conception, and cfDNA chosen as a primary method of screening. A total of 161 cases screened positive for SCA and follow-up data were available for 118 (73.3%). Forty-six of the 61 cases of 45,X were false-positive results and 15 were concordant with the fetal karyotype (PPV = 24.6%). Seventeen of the 22 cases of 47,XXX were false positive and 5 concordant (PPV = 22.7%). Eleven of the 30 cases of 47,XXY were false positive and 19 concordant (PPV = 63.3%). All 5 cases of 47,XYY were correctly identified, thus yielding a PPV of 100%. Conclusion: More than half of the patients undergoing cfDNA aneuploidy screening also opted for SCA testing, but they were less likely to do so in the presence of an increased risk of trisomy. SCAs involving the X chromosome had a lower PPV than those involving the Y chromosome.

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Section: Comparison With Previous Studiessupporting

confidence: 77%

Screening for Sex Chromosome Aneuploidy by Cell-Free DNA Testing: Patient Choice and Performance

Bevilacqua

Ordóñez²,

Hurtado

et al. 2017

Fetal Diagn Ther

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“…A precise estimation of the detection rate of SCAs was not possible because most patients (4/5) with a high risk of SCAs declined the invasive test. As shown in the present study, the very low incidence of prenatal karyotyping for high-risk results of SCAs acquired by NIPT agreed very well with a previous study showing that 98.5% of pregnant women wanted to be informed if NIPT suspected an SCA, although only one third would consider amniocentesis [26]. The reason women stated for wanting to be informed was so that they could make informed choices and make preparations.…”

Section: Discussionsupporting

confidence: 90%

Noninvasive prenatal test for fetal chromosomal aneuploidies by massively parallel sequencing of cell-free fetal DNA in maternal plasma: The first clinical experience in Korea

et al. 2015

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JGM mostly trisomy 21, relies exclusively on biochemical and sonographic measurements performed in the first and second trimesters. With a 3-5% false-positive rate, first-trimester screening achieves a detection rate of about 60-95% for trisomy 21 [1][2][3]. In 1997, Lo et al. [4] www.e-kjgm.org Purpose: Noninvasive prenatal test (NIPT) by massively parallel sequencing (MPS) of cell-free fetal DNA in maternal plasma marks a significant advancement in prenatal screening, minimizing the need for invasive testing of fetal chromosomal aneuploidies. Here, we report the initial clinical performance of NIPT in Korean pregnant women. Materials and Methods: MPS-based NIPT was performed on 910 cases; 5 mL blood samples were collected and sequenced in the Shenzhen BGI Genomic Laboratory to identify aneuploidies. The risk of fetal aneuploidy was determined by L-score and t-score, and classified as high or low. The NIPT results were validated by karyotyping for the high-risk cases and neonatal follow-up for low-risk cases. Results: NIPT was mainly requested for two clinical indications: abnormal biochemical serum-screening result (54.3%) and advanced maternal age (31.4%). Among 494 cases with abnormal biochemical serum-screening results, NIPT detected only 9 (1.8%) high-risk cases. Sixteen cases (1.8%) of 910 had a high risk for aneuploidy: 8 for trisomy 21, 2 for trisomy 18, 1 for trisomy 13, and 5 for sex chromosome abnormalities. Amniocentesis was performed for 7 of these cases (43.8%). In the karyotyping and neonatal data, no false positive or negative results were observed in our study. Conclusion: MPS-based NIPT detects fetal chromosomal aneuploidies with high accuracy. Introduction of NIPT as into clinical settings could prevent about 98% of unnecessary invasive diagnostic procedures. Key words:Noninvasive prenatal test (NIPT), Cell-free fetal DNA (cffDNA), Fetal chromosomal aneuploidies.86 SH Han, et al. • Noninvasive prenatal test for fetal chromosomal aneuploidies www.e-kjgm.org of circulating cell-free fetal DNA (cffDNA) in maternal plasma, which has opened a new approach to noninvasive prenatal test (NIPT).Since the introduction of NIPT for fetal chromosomal aneuploidies by massively parallel sequencing (MPS), the clinical application of NIPT for screening high-risk pregnant women has grown significantly. Several validation studies of high-risk populations have demonstrated the detection rates for trisomy 21 of >99%, 98% for trisomy 18, and 89% for trisomy 13, with false positive rates of 0.1%, 0.1%, and 0.4%, respectively [5][6][7][8][9][10][11][12][13][14]. Consequently, in high-risk populations, NIPT has been shown to have a higher sensitivity and specificity than biochemical serumscreening tests that are currently in use for these trisomies. Recently, this new approach to fetal aneuploidy screening has been introduced in routine clinical practice [15].The excellent performance of NIPT in multiple clinical validations [5][6][7][8][9][10][11][12][13][14], the noninvasive nature of the testing, and the positi...

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“…Very few studies have examined stakeholder views of these new applications for NIPT [11,14,48,49]. Whilst women are generally interested in having tests for sex chromosome aneuploidies and microdeletion syndromes [11,48,49], some question the usefulness of screening for conditions with variable or unknown outcomes [49]. A key finding from this research is that women want to know what is being screened for prior to testing as this information is important for weighing up the advantages and disadvantages of NIPT relative to other options [11,49].…”

Section: Expanding Uses Of Noninvasive Prenatal Testing/diagnosismentioning

confidence: 92%

“…In addition to T21, T18 and T13 several companies now offer testing for sex chromosome aneuploidies, aneuploidies associated with high risk for early pregnancy loss (T9, T16, and T22) and microdeletion syndromes [4]. Very few studies have examined stakeholder views of these new applications for NIPT [11,14,48,49]. Whilst women are generally interested in having tests for sex chromosome aneuploidies and microdeletion syndromes [11,48,49], some question the usefulness of screening for conditions with variable or unknown outcomes [49].…”

Section: Expanding Uses Of Noninvasive Prenatal Testing/diagnosismentioning

confidence: 99%

Stakeholder attitudes and needs regarding cell-free fetal DNA testing

Hill

Lewis²,

Chitty³

2016

Current Opinion in Obstetrics &Amp; Gynecology

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Stakeholders are positive about the introduction of cell-free fetal DNA testing into clinical practice. They describe both practical and psychological benefits arising from tests that are safe and can potentially be performed earlier in pregnancy. Key concerns, which include the potential for these tests to have a negative impact on informed decision making and increased societal pressure to have testing, can be addressed through careful parent-directed counseling. As applications for these tests expand it is increasingly important to develop innovative approaches to facilitate good understanding for parents who are offered noninvasive prenatal testing.

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Non-invasive prenatal screening of fetal sex chromosomal abnormalities: perspective of pregnant women

Abstract: Besides screening Down syndrome by NIFTY, most pregnant women would also like to be informed if there was suspicion of SCA. Those screened positive should be counseled by those with experience in genetics to avoid unnecessary pregnancy termination.

Cited by 27 publications

References 15 publications

Screening for Sex Chromosome Aneuploidy by Cell-Free DNA Testing: Patient Choice and Performance

Screening for Sex Chromosome Aneuploidy by Cell-Free DNA Testing: Patient Choice and Performance

Noninvasive prenatal test for fetal chromosomal aneuploidies by massively parallel sequencing of cell-free fetal DNA in maternal plasma: The first clinical experience in Korea

Stakeholder attitudes and needs regarding cell-free fetal DNA testing

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