Prenatal Detection and Postnatal Follow-Up of Segmental Aneusomies of Chromosome 13 in 4 Consecutive Pregnancies in an Ethnic South Indian Family With a Maternally Inherited Balanced Translocation

Abstract

Objective: To assess the postnatal clinical manifestation of an antenatally detected unbalanced rearrangement involving chromosome 13 in an ethnic South Indian couple.

Methods: We used conventional cytogenetics on fetal cells obtained from prenatal specimens and on peripheral blood lymphocytes from consanguineous family members to ascertain the chromosomal abnormalities.

Results: We report the reproductive outcomes of a maternally inherited chromosome translocation involving chromosome 9 and 13 and the informed decisions of the couple, after genetic counseling in India, regarding their 4 pregnancies.

Conclusion: This case report highlights the current practice in India of offering prenatal diagnosis and preimplantation genetic diagnosis to individuals who are carriers of balanced translocations, to reduce the risk of conceiving chromosomally abnormal offspring.

Keywords: South Indian; balanced chromosome translocation; karyotyping; partial monosomy; partial trisomy; prenatal diagnosis.