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Effectiveness of non-invasive prenatal screening for the detection of fetal sex chromosome anomalies / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 325-328, 2021.
Article in Chinese | WPRIM | ID: wpr-879578
ABSTRACT
OBJECTIVE@#To evaluate the efficacy of non-invasive prenatal screening (NIPS) for fetal sex chromosome anomalies.@*METHODS@#A retrospective analysis was carried out for 20 802 women undergoing NIPS screening. For 165 cases suspected for fetal sex chromosomal anomalies, the results of invasive prenatal diagnosis were obtained.@*RESULTS@#Among the 165 cases suspected for fetal sex chromosome anomalies, 129 have accepted invasive prenatal diagnosis, and 45 were confirmed, which yielded a positive predictive value of 34.88%. These included 16 cases of 47,XYY, 10 cases of 47,XXY, 6 cases of 45,X/46,XX, 5 cases of 47,XXX, 3 cases of 45,X, 1 case of 45,X/46,X,i(X)(q10), 1 case of 45,X/46,X,del(X)(q22), 1 case of 46,X,del(X)(q22), 1 case of 46,X,del(X)(p11) and 1 case of Xp22.31 1.2 Mb deletion.@*CONCLUSION@#NIPS has limited value for detecting fetal sex chromosome anomalies. Karyotyping analysis combined with other diagnostic techniques can offer effective prenatal diagnosis for suspected cases.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Prenatal Diagnosis / Sex Chromosomes / Trisomy / Retrospective Studies / Aneuploidy Type of study: Diagnostic study / Observational study / Screening study Limits: Female / Humans / Pregnancy Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Prenatal Diagnosis / Sex Chromosomes / Trisomy / Retrospective Studies / Aneuploidy Type of study: Diagnostic study / Observational study / Screening study Limits: Female / Humans / Pregnancy Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article