Cystic Hygroma - Fetal Kyryotyping in Nucal Effusion (case report)
Em 01/05/2002 por L.M.Lopes, R.A.M.Sá, B.Novaes, P.R.N.Carvalho, T.C.A.Almeida, P.R.Marinho
Trabalho Apresentado no Congresso Internacional The Fetus as a Patient Budapeste, Hungria, Abril 25-28, 2002 pelo CPDT
C.P.D.T.- Centro Pré-natal de Diagnóstico e Tratamento
Laranjeiras Clínica Perinatal, BRAZIL.
Objective
To evaluate the effectiveness of fetal karyotyping in nucal effusion (cystic hygroma).
Design and Methods
We studied three fetuses with cystic hygroma. The gestational age varied 13 to 15 weeks. All of these fetuses underwent intrauterine puncture of the cystic hygroma, with needle, guided by ultrasound. At the same time we collected samples of amniotic fluid. Both samples ( amniotic fluid and cystic hygroma) were processed for karyotype.
Results
There were 3 abnormal results cystic hygroma samples. The fetal karyotype obtained amniotic fluid were abnormal in 01 and normal in 02. There were no maternal or fetal side effects related to the process (table 01).
| |
IG (weeks) |
Karyotype - Hygroma |
< FONT> |
| Case 1 |
13 |
46,XX, del(13) |
46,XX |
| Case 2 |
15 |
46,XY,t(11;22)(q23;q22) |
46,XY |
| Case 3 |
13 |
Turner syndrome |
Turner syndrome |
Conclusions
The fetal karyotyping performed in cystic hygroma effusion is probably a method for karyotyping in fetuses and for the diagnosis of mosaicism.
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