Parental counseling in trisomy 18: Novel insights in prenatal features and postnatal survival.
Am J Med Genet A
; 170A(2): 329-336, 2016 Feb.
Article
em En
| MEDLINE
| ID: mdl-26473304
ABSTRACT
Data on the outcome of trisomy T18 (T18) when diagnosed during pregnancy are lacking. We performed a retrospective study of pregnancies complicated by T18 diagnosed at our center and a literature search for publications on the topic, with pooled estimates of survival rates at different gestational and post-natal ages. In our series, all the 60 patients included in the analysis had prenatally detected ultrasound anomalies, which were evidenced in the first trimester or at the second trimester scan in 73% of cases. In the continued pregnancies, ultrasound findings did not correlate with prenatal or post-natal outcome. A meta-analysis of available literature and our data showed that 48% [37-60%] of fetuses were live born, and among these 39% [11-72%] survived beyond 48 hr and 11% [3-21%] beyond 1 month. Our results confirm that prenatal ultrasound has high sensitivity in detection of T18 but is not predictive of the outcome of the continued pregnancies. The data on survival support that T18, even when antenatally diagnosed, cannot be considered as a uniformly lethal syndrome.
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Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Pais
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Mortalidade Infantil
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Síndrome de Down
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Aconselhamento
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Feto
Tipo de estudo:
Diagnostic_studies
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Observational_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Adult
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Female
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Humans
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Infant
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Newborn
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Pregnancy
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Itália