Resumo

VITERI RODRIGUEZ, Juan Alberto; LOPEZ BARRIONUEVO, Carlos Gustavo  e  ARELLANO OLEAS, Yesenia Esthefanía. Methods for early prenatal diagnosis of Down's syndrome. Rev Ciencias Médicas [online]. 2023, vol.27, n.6  Epub 01-Nov-2023. ISSN 1561-3194.

Down syndrome is a genetic disorder caused by trisomy of chromosome 21. It is one of the most common genetic diseases and is associated with intellectual and developmental disability. The present article was developed to describe methods for early diagnosis of Down syndrome. The life expectancy of patients with Down syndrome has increased in recent years and its prevalence in Ecuador is higher than worldwide. It is emphasized that early prenatal diagnosis of Down syndrome is achieved with noninvasive tests, but an invasive test is needed to confirm it. Nuchal translucency is the best ultrasound marker to detect Down syndrome. Plasma protein A is the marker with the highest discriminatory capacity in the first trimester of gestation, and invasive diagnostic tests such as amniocentesis and microvillus biopsy involve risks for the mother and fetus and their use is recommended only in cases of previous risk to confirm the syndrome.

Palavras-chave : DOWN SYNDROME; PRENATAL DIAGNOSIS; GENETIC DISEASES, INBORN; DIAGNOSTIC TECHNIQUES AND PROCEDURES.

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