Parental decisions following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong

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 ◽  
...  
Keyword(s):  
Hong Kong ◽  
Prenatal Diagnosis ◽  
Sex Chromosome ◽  
Sex Chromosome Aneuploidy ◽  
Chromosome Aneuploidy ◽  
Parental Decisions

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

2019 ◽  
Vol 19 (6) ◽  
pp. 537-542 ◽  
Author(s):  
Yong Xu ◽  
Liyuan Chen ◽  
Yang Liu ◽  
Ying Hao ◽  
Zhiyong Xu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Chromosome ◽  
Sex Chromosome Aneuploidy ◽  
Chromosome Aneuploidy

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
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Chromosome ◽  
Pregnancy Termination ◽  
Sex Chromosome Aneuploidy ◽  
Chromosome Aneuploidy

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

2020 ◽  
Author(s):  
Xinran Lu ◽  
Chaohong Wang ◽  
Yuxiu Sun ◽  
Junxiang Tang ◽  
Keting Tong ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Maternal Age ◽  
Sex Chromosome ◽  
Karyotype Analysis ◽  
Prenatal Testing ◽  
Sex Chromosome Aneuploidy ◽  
Non Invasive ◽  
Chromosome Aneuploidy

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.

Prenatal diagnosis and management of sex chromosome aneuploidy: a report on 98 cases

2004 ◽  
Vol 24 (3) ◽  
pp. 213-218 ◽  
Author(s):  
Jean-Luc Brun ◽  
Flore Gangbo ◽  
Zon Qi Wen ◽  
Katia Galant ◽  
Laurence Taine ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Chromosome ◽  
Diagnosis And Management ◽  
Sex Chromosome Aneuploidy ◽  
Chromosome Aneuploidy
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