Carrier screening plays a pivotal role in controlling transmission of genetic abnormalities through generations. Irreparable genetic aberrations are preventable by understanding the nature of alterations and nurturing prenatal/pre-implantation diagnosis. Retrospective carrier screening of blood-linked relatives not only prevents transmission to future generations but also helps in understanding the impact on future health. However, lack of cooperation of the parents/family members posts barriers for carrier screening, and thus, abnormalities occur in recurrent pregnancies. Parental attitude toward carrier screening has been discussed in this paper based on a case having unbalanced karyotypic abnormality with a chimeric extra chromosome (47,XX,+mar). This female baby was born with choanal atresia (CA), anteposed anus, and atrial septal defect to nonconsanguineous parents as second child. Owing to common problem of difficulty in breathing in father and the elder son, it could have been speculated that the father was the carrier of some genetic condition, which contributed to clinical expression; however, the parents were reluctant to undergo screening. Since there was aneuploidy with a rearranged chromosome, the possibility of normal karyotype in the parents cannot be expected, and thus, karyotyping was essential for the other child too. That was also refused. Refusal of screening by the family will necessarily put future generations of the family at risk of inheriting CA.

Keywords: Carrier screening, Choanal atresia, Chromosome aberration, Genetic testing, Prevention of genetic defects.

How to cite this article: Ganguly BB, Daruwalla D, Kadam NN. Attitude of Parents to Carrier Screening for Genetically Transmitted Diseases in India. MGM J Med Sci 2017;4(4):187-190.

Source of support: MGMIHS

Conflict of interest: None