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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