Detection of fetal chromosomal anomalies: does nuchal translucency measurement have added value in the era of non-invasive prenatal testing?
Prenat Diagn
; 35(7): 663-8, 2015 Jul.
Article
en En
| MEDLINE
| ID: mdl-25754604
ABSTRACT
OBJECTIVES:
The objective of this study is to determine what percentage of fetal chromosomal anomalies remains undetected when first trimester combined testing is replaced by non-invasive prenatal testing for trisomies 13, 18, and 21. We focused on the added clinical value of nuchal translucency (NT) measurement.METHODS:
Data on fetal karyotype, ultrasound findings, and pregnancy outcome of all pregnancies with an NT measurement ≥3.5 mm were retrospectively collected from a cohort of 25,057 singleton pregnancies in which first trimester combined testing was performed.RESULTS:
Two hundred twenty-five fetuses (0.9 %) had an NT ≥3.5 mm. In 24 of these pregnancies, a chromosomal anomaly other than trisomy 13, 18, or 21 was detected. Eleven resulted in fetal demise, and ten showed fetal ultrasound anomalies. In three fetuses with normal ultrasound findings, a chromosomal anomaly was detected, of which one was a triple X.CONCLUSIONS:
In three out of 25,057 pregnancies (0.01%), non-invasive prenatal testing and fetal ultrasound would have missed a chromosomal anomaly that would have been identified by NT measurement. © 2015 John Wiley & Sons, Ltd.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Trisomía
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Síndrome de Down
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Trastornos de los Cromosomas
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Medida de Translucencia Nucal
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Errores Diagnósticos
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Pruebas de Detección del Suero Materno
Tipo de estudio:
Diagnostic_studies
/
Evaluation_studies
/
Observational_studies
/
Prognostic_studies
Límite:
Adult
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Female
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Humans
/
Male
/
Middle aged
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Newborn
/
Pregnancy
Idioma:
En
Revista:
Prenat Diagn
Año:
2015
Tipo del documento:
Article
País de afiliación:
Países Bajos