Pre-implantation genetic screening using fluorescence in situ hybridization in couples of Indian ethnicity: Is there a scope?

Context: There is a high incidence of numerical chromosomal aberration in couples with repeated in vitro fertilization (IVF) failure, advanced maternal age, repeated unexplained abortions, severe male factor infertility and unexplained infertility. Pre-implantation genetic screening (PGS), a variant of pre-implantation genetic diagnosis, screens numerical chromosomal aberrations in couples with normal karyotype, experiencing poor reproductive outcome. The present study includes the results of the initial pilot study on 9 couples who underwent 10 PGS cycles.

Chromosomal aberrations in 2000 couples of Indian ethnicity with reproductive failure.

Constitutional chromosomal aberrations contribute to infertility and repeated miscarriage leading to reproductive failure in couples. These aberrations may show no obvious clinical manifestations and remain undetected across multiple generations. However, infertility or recurrent spontaneous pregnancy loss, and/or genotypic/phenotypic aberrations may be manifested in the progeny during gametogenesis.

Detection of haemoglobin variants for the diagnosis of beta thalassaemia & other haemoglobinopathies using anion exchange high performance liquid chromatography.

We describe the precise identification, separation and quantitation of several haemoglobin (Hb) variants such as Hbs A2, A, F, S, E, J, H, D-Punjab and Q-India in untransfused patients with beta thalassaemia and other haemoglobinopathies prevalent in the Indian population using whole blood (5 microliters), red cell lysates (2 microliters) or dried blood specimens on filter paper, using a conventional anion exchange high performance liquid chromatography (AX-HPLC) system. Samples were simultaneously studied for the presence of haemoglobin variants by alkaline electrophoresis. The problems in analysing rare variants and separating the closely migrating variants, encountered in the conventional methods could be resolved using the HPLC technique.