Prenatal Diagnosis of Chromosome Abnormalities

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“…58 However, molecular tests, particularly Q-PCR, appear to be more sensitive to maternal contamination.…”

Section: Molecular Test Results and Maternal Cell Contaminationmentioning

confidence: 99%

“…Detection error rates for the gold standard test, karyotyping, are typically quoted as being in the range 0.1-0.6%, 58 with the vast majority of errors reported to be incorrect sex assignment, as a result of either maternal cell contamination or laboratory error, but occasional missed trisomies are also noted.…”

Section: The Gold Standard Karyotypingmentioning

confidence: 99%

Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities

Grimshaw

Szczepura

Hultén

et al. 2003

Health Technol Assess

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“…In addition, by detecting genetic changes in an individual, because of the heritable nature of genes, this automatically confers genetic information about family members who may not wish to be part of the process. As a result, it is strongly recommended that genetic testing only be performed after an informed consent process has been carried out that outlines the benefits and drawbacks of genetic information (2,3). It is the duty of all child health specialists to be aware of the issue of genetic testing in children and of the informed consent process.…”

Section: Méthodologie Et Résultatsmentioning

confidence: 99%

Practical aspects of genetic testing in ambulatory paediatrics and child health care

Wyatt

2003

Paediatrics &Amp; Child Health

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“…No caso de cromossomos "marcadores", presentes ou não nos genitores, a situação pode ser bem mais complicada, necessitando do emprego de citogenética molecular e uma detalhada explanação aos genitores para uma decisão definitiva. Uma ótima revisão pode ser encontrada no artigo de Lillian Hsu (1986).…”

Section: Amniocenteseunclassified

Diagnóstico pré-natal

Júnior

2002

Ciênc. saúde coletiva

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Prenatal Diagnosis of Chromosome Abnormalities

Cited by 42 publications

References 241 publications

Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities

Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities

Practical aspects of genetic testing in ambulatory paediatrics and child health care

Diagnóstico pré-natal

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