Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population.
Prenat Diagn
; 33(7): 700-6, 2013 Jul.
Article
en En
| MEDLINE
| ID: mdl-23703459
ABSTRACT
OBJECTIVE:
The recently developed noninvasive prenatal test (NIPT) presents a new era of prenatal screening. Previously reported studies were primarily conducted on high-risk and advanced maternal age (AMA) pregnancies. We sought to evaluate the performance of NIPT for detection of fetal aneuploidies in a Chinese cohort of women younger than 35 years old in a prospective clinical setting.METHODS:
Maternal plasma samples were sequenced to identify the aneuploidies. The results were compared against the serum screening results and validated by karyotyping through invasive procedures and birth follow-up.RESULTS:
A total of 1916 prospectively collected maternal plasma samples were sequenced, among which 73 samples (3.8%) failed the sequencing quality control. Birth follow-up missed 111 samples (5.8%). The remaining 1741 samples were analyzed. Sequencing reported 15 aneuploidy samples, including all the T21, T18, and T13 cases. Sequencing performed moderately in identifying sex chromosome aneuploidies, detecting two out of four samples, with a specificity of 99.88% (95% CI 99.53% to 99.98%).CONCLUSIONS:
Noninvasive prenatal detection of common fetal aneuploidies is a more sensitive and specific method than triple maternal serum screening. It has a remarkable low false positive rate and is applicable to women younger than 35 years old.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Diagnóstico Prenatal
/
ADN
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Análisis de Secuencia de ADN
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Secuenciación de Nucleótidos de Alto Rendimiento
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Aneuploidia
Tipo de estudio:
Diagnostic_studies
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Observational_studies
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Prognostic_studies
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Risk_factors_studies
Límite:
Adult
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Female
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Humans
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Pregnancy
País/Región como asunto:
Asia
Idioma:
En
Revista:
Prenat Diagn
Año:
2013
Tipo del documento:
Article
País de afiliación:
China