Is it necessary to choose NIPT-plus for pregnant women who opt for non-invasive prenatal testing? A study of 50 cases / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 895-899, 2021.
Artículo
en Chino
| WPRIM
| ID: wpr-921965
ABSTRACT
OBJECTIVE@#To explore whether it is necessary to choose NIPT-plus for the prenatal screening of pregnant women.@*METHODS@#The results of NIPT and NIPT-plus sequencing data, fetal DNA concentration, prenatal diagnosis and pregnancy outcome of 50 pregnant women were compared.@*RESULTS@#Compared with NIPT, NIPT-plus attained similar fetal DNA concentration and a 4.4-fold increase in sequencing data. NIPT was able to detect 4 cases of 21-trisomy, 2 cases of 18-trisomy, and 9 cases of sex chromosome aneuploidies (SCAs) signaled by NIPT-plus, but missed one 18-trisomy, and failed to detect rare chromosome aneuploidies (RCAs) and microdeletion/microduplication syndromes (MMS). The PPVs of NIPT-plus for 21-trisomy, 18-trisomy, SCAs, MMS and RCAs were 100%, 100%, 44.4%, 30.4% and 0%, respectively. And those of NIPT for 21-trisomy, 18-trisomy, and SCAs were 100%, 100%, and 44.4%, respectively.@*CONCLUSION@#It is necessary for pregnant women to select NIPT-plus to improve the detection rate of common trisomies, SCAs and disease-specific MMS, therefore reduce the occurrene of birth defect.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Diagnóstico Prenatal
/
Trisomía
/
Mujeres Embarazadas
/
Síndrome de la Trisomía 13
/
Síndrome de la Trisomía 18
/
Aneuploidia
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2021
Tipo del documento:
Artículo
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