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Sonographic findings in partial type of trisomy 18
IJFS-International Journal of Fertility and Sterility. 2014; 7 (4): 349-352
em Inglês | IMEMR | ID: emr-130758
ABSTRACT
Trisomy 18 [Edwards syndrome] is the second most common trisomy among live born fetuses, with poor prognosis. Estimate of its incidence is between 1 in 4000- 16000 live births. Most of the chromosomal abnormalities in fetuses are detected by prenatal ultrasound findings in the first and second trimesters. In this case report, we present a partial type of trisomy 18 occurring through de novo unbalanced translocation of chromosomes 18 and 21. The ultrasound features enabling the early detection of trisomy 18 include a delayed ossification of calvarium combined with early onset of fetal growth restriction [FGR] and the absence of nasal bone through performing triple test followed by amniocentesis. Finally, the parents decided to terminate the pregnancy
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Índice: IMEMR (Mediterrâneo Oriental) Assunto principal: Anormalidades Congênitas / Cromossomos Humanos Par 18 / Ultrassonografia Pré-Natal Tipo de estudo: Relato de Casos / Estudo de rastreamento Limite: Feminino / Humanos Idioma: Inglês Revista: Int. J. Fertil. Steril. Ano de publicação: 2014

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Índice: IMEMR (Mediterrâneo Oriental) Assunto principal: Anormalidades Congênitas / Cromossomos Humanos Par 18 / Ultrassonografia Pré-Natal Tipo de estudo: Relato de Casos / Estudo de rastreamento Limite: Feminino / Humanos Idioma: Inglês Revista: Int. J. Fertil. Steril. Ano de publicação: 2014