Role of fetal ultrasound in prenatally diagnosed de novo balanced translocations
Journal of Genetic Medicine
;
: 8-12, 2018.
Article
in English
| WPRIM
| ID: wpr-715431
ABSTRACT
PURPOSE:
This study aimed to investigate fetal ultrasonographic findings in cases of prenatally diagnosed de novo balanced translocations and the role of fetal ultrasound in prenatal genetic counseling. MATERIALS ANDMETHODS:
We collected cases with de novo balanced translocations that were confirmed in chorionic villus sampling, amniocentesis, and cordocentesis between 1995 and 2016. A detailed, high-resolution ultrasonography was performed for prediction of prognosis. Chromosomes from the parents of affected fetuses were also analyzed to determine whether the balanced translocations were de novo or inherited.RESULTS:
Among 32,070 cases with prenatal cytogenetic analysis, 27 cases (1/1,188 incidence) with de novo balanced translocations were identified. Fourteen cases (51.9%) showed abnormal findings, and the frequency of major structural anomalies was 11.1%. Excluding the major structural anomalies, all mothers who continued pregnancies delivered healthy babies.CONCLUSION:
Results of a detailed, high-resolution ultrasound examination are very important in genetic counseling for prenatally diagnosed de novo balanced translocations.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Parents
/
Prenatal Diagnosis
/
Prognosis
/
Translocation, Genetic
/
Chorionic Villi Sampling
/
Ultrasonography, Prenatal
/
Ultrasonography
/
Cordocentesis
/
Cytogenetic Analysis
/
Fetus
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Female
/
Humans
/
Pregnancy
Language:
English
Journal:
Journal of Genetic Medicine
Year:
2018
Type:
Article
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