Prenatal diagnosis of sex chromosome aneuploidy: possible reasons for high rates of pregnancy termination

10.1002/pd.78 ◽  
2001 ◽  
Vol 21 (6) ◽  
pp. 461-465 ◽  
Author(s):  
Michal Sagi ◽  
Vardiella Meiner ◽  
Nurith Reshef ◽  
Judith Dagan ◽  
Joel Zlotogora
2019 ◽  
Vol 19 (6) ◽  
pp. 537-542 ◽  
Author(s):  
Yong Xu ◽  
Liyuan Chen ◽  
Yang Liu ◽  
Ying Hao ◽  
Zhiyong Xu ◽  
...  

2017 ◽  
Vol 43 (12) ◽  
pp. 1821-1829 ◽  
Author(s):  
Po Lam So ◽  
Kwun Yue Yvonne Cheng ◽  
Kwan Yiu Cheuk ◽  
Wan Kam Chiu ◽  
Shui Lam Mak ◽  
...  

2020 ◽  
Author(s):  
Xinran Lu ◽  
Chaohong Wang ◽  
Yuxiu Sun ◽  
Junxiang Tang ◽  
Keting Tong ◽  
...  

Abstract 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.


2004 ◽  
Vol 24 (3) ◽  
pp. 213-218 ◽  
Author(s):  
Jean-Luc Brun ◽  
Flore Gangbo ◽  
Zon Qi Wen ◽  
Katia Galant ◽  
Laurence Taine ◽  
...  

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