J Genet Med.  2018 Jun;15(1):8-12. 10.5734/JGM.2018.15.1.8.

Role of fetal ultrasound in prenatally diagnosed de novo balanced translocations

• Seong ES
• Youn HJ
• Park MK
• Boo HY
• Lee BY
• Ryu HM
• Han YJ

• KMID: 2435965
• DOI: http://doi.org/10.5734/JGM.2018.15.1.8

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 AND METHODS
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.

Keyword

Genetic translocation; Prenatal ultrasonography; Prenatal diagnosis; Genetic counseling; Cytogenetic analysis

MeSH Terms

Amniocentesis
Chorionic Villi Sampling
Cordocentesis
Cytogenetic Analysis
Female
Fetus
Genetic Counseling
Humans
Mothers
Parents
Pregnancy
Prenatal Diagnosis
Prognosis
Translocation, Genetic
Ultrasonography*
Ultrasonography, Prenatal