Prenatal Diagnosis of a Fetus with Trisomy 18 and Inherited Reciprocal Translocation Between Chromosomes 7 and 18

Abstract

It is widely known that the increased prevalence of chromosomal abnormalities is mainly due to Robertsonian and reciprocal translocations as compared to duplication, deletion and inversion. In case of balanced translocations, there are no phenotypic characteristics observed in the carrier, but it leads to increased risk of producing unbalanced gametes. In this case report we present a prenatal case diagnosed at 16 weeks of gestation with trisomy for chromosome 18 along with inherited balanced reciprocal translocation between chromosome 7 and 18. Chromosome analysis of fetal amniotic fluid and maternal peripheral blood was performed at the Clinical Genetics Department. Fetal chromosome analysis confirmed a rare genetic abnormality 47,t(7;18)(p13;q21)mat, + 18. Maternal karyotype confirmed a balanced reciprocal translocation 46,XX,t(7;18)(p13;q21). The pregnancy was terminated at 16–17 weeks due to abnormal karyotype results. The present findings can be used as an effective tool for reproductive guidance and genetic counseling of the couple.

Keywords

Robertsonian and reciprocal translocation - Amniotic fluid - Prenatal diagnosis - Trisomy 18 - Genetic counseling

Publikationsverlauf

Eingereicht: 31. Mai 2021

Angenommen: 21. September 2021

Artikel online veröffentlicht:
05. Mai 2023