Genetic counseling and clinical outcome of fetus with de novo chromosomal aberrations / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 56-59, 2011.
Article
Dans Chinois
| WPRIM
| ID: wpr-234318
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the chromosome rearrangements and clinical outcome in fetus detected at prenatal diagnosis, and provide information for genetic counseling about de novo chromosomal aberrations.</p><p><b>METHODS</b>From January 2006 to December 2009, we found 12 cases of de novo chromosomal aberrations in 2 583 cases of prenatal cytogenetic analyses and reviewed the karyotypes, other experimental analyses data, fetal ultrasound findings and clinical outcomes.</p><p><b>RESULTS</b>Out of the 12 de novo chromosomal aberrations, 10 had unbalanced translocations and 2 had balanced reciprocal translocations. Eight of the 10 unbalanced translocation cases were terminated therapeutically, and 2 were delivered with full term. Neonates were phenotypically normal in the 2 cases with unbalanced translocations, but 1 had language retardation when followed up. The two balanced translocation cases were delivered with full term, and the neonates were phenotypically normal and clinical examinations were normal too.</p><p><b>CONCLUSION</b>Detailed cytogenetic and molecular study will be adjunctive tools for predicting the phenotype of fetus with de novo chromosomal aberrations. Fetal ultrasound examination will provide convincible demonstration to determine the outcome of pregnancy.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Diagnostic prénatal
/
Issue de la grossesse
/
Aberrations des chromosomes
/
Hybridation fluorescente in situ
/
Conseil génétique
Type d'étude:
Etude diagnostique
/
Étude pronostique
Limites du sujet:
Femelle
/
Humains
/
Grossesse
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2011
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS