Sex chromosome aneuploidy detection by noninvasive prenatal testing: helpful or hazardous?

2017 ◽  
Vol 37 (5) ◽  
pp. 515-520 ◽  
Author(s):  
Rosemary E. Reiss ◽  
Marie Discenza ◽  
Judith Foster ◽  
Lori Dobson ◽  
Louise Wilkins-Haug
Keyword(s):  
Sex Chromosome ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Sex Chromosome Aneuploidy ◽  
Chromosome Aneuploidy

Maternal Source of False-Positive Fetal Sex Chromosome Aneuploidy in Noninvasive Prenatal Testing

2015 ◽  
Vol 125 (2) ◽  
pp. 390-392 ◽  
Author(s):  
Christopher J. McNamara ◽  
Laura A. Limone ◽  
Thomas Westover ◽  
Richard C. Miller
Keyword(s):  
False Positive ◽  
Sex Chromosome ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Fetal Sex ◽  
Sex Chromosome Aneuploidy ◽  
Chromosome Aneuploidy

scholarly journals Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Xinran Lu ◽  
Chaohong Wang ◽  
Yuxiu Sun ◽  
Junxiang Tang ◽  
Keting Tong ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Maternal Age ◽  
Sex Chromosome ◽  
Diagnostic Testing ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Maternal Characteristics ◽  
Sex Chromosome Aneuploidy ◽  
Chromosome Aneuploidy ◽  
Prenatal Diagnostic

Abstract Objective To assess the positive predictive value (PPV) of noninvasive prenatal testing (NIPT) as a screening test for sex chromosome aneuploidy (SCA) with different maternal characteristics and prenatal decisions in positive cases. Materials and methods We retrospectively analysed 45,773 singleton pregnancies with different characteristics that were subjected to NIPT in the Maternity and Child Health Hospital of Anhui Province. The results were validated by karyotyping. Clinical data, diagnostic results, and data on pregnancy outcomes were collected. Results In total, 314 cases were SCA positive by NIPT; among those, 143 underwent invasive prenatal diagnostic testing, and 58 were true-positive. Overall, the PPVs for 45,X, 47,XXX, 47,XXY and 47,XYY were 12.5%, 51.72%, 66.67% and 83.33%, respectively. Interestingly, when only pregnant women of advanced maternal age (AMA) were screened, the PPVs for 45,X, 47,XXX, 47,XXY and 47,XYY were 23.81%, 53.33%, 78.95%, and 66.67%, respectively. The frequency of SCA was significantly higher in the AMA group than in the non-AMA group. The frequencies of 47,XXX and 47,XXY were significantly correlated with maternal age. Conclusion NIPT performed better in predicting sex chromosome trisomies than monosomy X, and patients with 45,X positive foetuses were more eager to terminate pregnancy than those with 47,XXX and 47,XYY. AMA may be a risk factor of having a foetus with SCA. Our findings may assist in genetic counselling of AMA pregnant women. Our pre- and posttest counselling are essential for familiarizing pregnant women with the benefits and limitations of NIPT, which may ease their anxiety and enable them to make informed choices for further diagnosis and pregnancy decisions.

Sex Chromosome Aneuploidy Detection by Noninvasive Prenatal Testing

2017 ◽  
Vol 72 (10) ◽  
pp. 583-585
Author(s):  
Rosemary E. Reiss ◽  
Marie Discenza ◽  
Judith Foster ◽  
Lori Dobson ◽  
Louise Wilkins-Haug
Keyword(s):  
Sex Chromosome ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Sex Chromosome Aneuploidy ◽  
Chromosome Aneuploidy

scholarly journals An Optimized Method for Accurate Fetal Sex Prediction and Sex Chromosome Aneuploidy Detection in Non-Invasive Prenatal Testing

PLoS ONE ◽  
2016 ◽  
Vol 11 (7) ◽  
pp. e0159648 ◽  
Author(s):  
Ting Wang ◽  
Quanze He ◽  
Haibo Li ◽  
Jie Ding ◽  
Ping Wen ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Prenatal Testing ◽  
Fetal Sex ◽  
Sex Chromosome Aneuploidy ◽  
Non Invasive ◽  
Chromosome Aneuploidy

Non-invasive prenatal testing in detecting sex chromosome aneuploidy: A large-scale study in Xuzhou area of China

2018 ◽  
Vol 481 ◽  
pp. 139-141 ◽  
Author(s):  
Feng Suo ◽  
Chuangxia Wang ◽  
Tianya Liu ◽  
Yuan Fang ◽  
Qin Wu ◽  
...  
Keyword(s):  
Large Scale ◽  
Sex Chromosome ◽  
Prenatal Testing ◽  
Sex Chromosome Aneuploidy ◽  
Non Invasive ◽  
Chromosome Aneuploidy ◽  
Large Scale Study

Chromosome Abnormalities Detected at Prenatal Diagnosis

2018 ◽  
Author(s):  
R. J McKinlay Gardner ◽  
David J Amor
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Chromosome ◽  
Prenatal Testing ◽  
Maternal Blood ◽  
Chromosome Abnormalities ◽  
Termination Of Pregnancy ◽  
Noninvasive Prenatal Testing ◽  
Specific Diagnosis ◽  
Sex Chromosome Aneuploidy ◽  
Recent Developments

Prenatal diagnosis has given medical cytogenetics one of its major areas of application: from amniocentesis in the earliest days to the recent developments of noninvasive prenatal testing based upon a sample of maternal blood. This chapter explores in detail the specific diagnoses that may be made and the decisions, with particular reference to continuation or termination of pregnancy, that face those women/couples for whom a specific diagnosis has been made. The difficulties of decision inherent in a sex chromosome aneuploidy, a microarray-level rearrangement, and in the context of mosaicism are rehearsed. This discussion is offered on the background of a review of the applied embryology.

scholarly journals Non-invasive Prenatal Testing for Assessing Fetal Sex Chromosome Aneuploidy: A Retrospective Study of 45773 Cases

2020 ◽  
Author(s):  
LU Xinran ◽  
WANG Chaohong ◽  
SUN Yuxiu ◽  
TANG Junxiang ◽  
TONG Keting ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Maternal Age ◽  
Sex Chromosome ◽  
Diagnostic Testing ◽  
Prenatal Testing ◽  
Maternal Characteristics ◽  
Sex Chromosome Aneuploidy ◽  
Non Invasive ◽  
Chromosome Aneuploidy ◽  
Prenatal Diagnostic

Abstract Objective: To assess the positive predictive value (PPV) of non-invasive prenatal testing (NIPT) as a screening test for sex chromosome aneuploidy (SCA) with different maternal characteristics and prenatal decision in positive cases. Materials and Methods: We retrospectively analyzed 45773 singleton pregnancies with different characteristics that were subjected to NIPT in Maternity and Child Health Hospital of Anhui Province. The results were validated by karyotyping. Clinical data, diagnostic results, and pregnancy outcomes were collected.Results: A total of 314 cases were SCA positive by NIPT; among those, 143 underwent invasive prenatal diagnostic testing, and 58 resulted as true-positive. Overall, the PPV for 45,X, 47,XXX, 47,XXY and 47,XYY was 12.5%, 51.72%, 66.67% and 83.33%, respectively. Interestingly, when screening only pregnant women in advanced maternal age (AMA), the PPV for 45,X, 47,XXX, 47,XXY and 47,XYY was 23.81%, 53.33%, 78.95%, and 66.67%, respectively. AMA was a high-risk predictor of having a fetus with SCA. The frequencies of 47, XXX, and 47,XXY were significantly correlated with maternal age.Conclusion: NIPT performed better in predicting sex chromosome trisomies than monosomy X, and patients with 45,X positive fetus were more eager to terminate pregnancy compared to those with 47,XXX and 47, XYY. Our findings may assist in genetic counseling of AMA pregnant women. Our Pre- and post-test counseling are essential for familiarizing pregnant women with the benefits and limitations of the NIPT, which may ease their anxiety and provide them with the informed choice for further diagnosis and pregnancy decision.

Non-Invasive Prenatal Testing for Sex Chromosome Aneuploidy in Routine Clinical Practice

2017 ◽  
Vol 44 (2) ◽  
pp. 85-90 ◽  
Author(s):  
Louise Kornman ◽  
Ricardo Palma-Dias ◽  
Debbie Nisbet ◽  
Fergus Scott ◽  
Melody Menezes ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Sex Chromosome ◽  
Prenatal Testing ◽  
Routine Clinical Practice ◽  
Sex Chromosome Aneuploidy ◽  
Non Invasive ◽  
Chromosome Aneuploidy
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