Impact of maternal X chromosome aneuploidies on cell free DNA prenatal screening / 中华妇产科杂志
Chinese Journal of Obstetrics and Gynecology
; (12): 100-105, 2020.
Artículo
en Chino
| WPRIM (Pacífico Occidental)
| ID: wpr-868121
Biblioteca responsable:
WPRO
ABSTRACT
Objective:
To investigate the impact of maternal X chromosome aneuploidies on cell free DNA (cf-DNA) prenatal screening.Methods:
After genetic counseling, invasive prenatal diagnosis was provided for the 124 cases with high risk of sex chromosome aneuploidie (SCA) indicated by cf-DNA prenatal screening. For cases with discordant results of fetal prenatal diagnosis and cf-DNA prenatal screening, maternal leukocyte was collected for copy number variation sequencing (CNV-seq) to detect whether the maternal X chromosome was carrying variations.Results:
Totally, 124 cases with high risks of SCA indicated by cf-DNA prenatal screening, 9 cases refused to take invasive prenatal diagnosis, while the remaining 115 cases received. Among the 115 cases, 41 cases received accordant results with cf-DNA prenatal screening while 74 cases discordant. Among the 74 cases with discordant results, 19 cases were indicated with maternal X chromosome variations by maternal leukocyte CNV-seq, which accounting for 25.7% (19/74) of the SCA false positive cases, and 15.3% (19/124) of all SCA cases.Conclusions:
Pregnant women with X chromosome variations may affect the results of cf-DNA prenatal screening, resulting in false positive or false negative outcomes, it should be emphasized that the cf-DNA results may be affected by maternal X chromosome variations. In cases with discordant results of prenatal diagnosis and cf-DNA prenatal screening, maternal leukocyte CNV-seq is recommended to find the reasons of false positive or negative results. And cf-DNA prenatal screening is not recommended for pregnant women who are already known with X chromosome variations.
Texto completo:
Disponible
Base de datos:
WPRIM (Pacífico Occidental)
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Idioma:
Chino
Revista:
Chinese Journal of Obstetrics and Gynecology
Año:
2020
Tipo del documento:
Artículo