Author(s): Desmond David Joachim Dcruz1

Genetic diseases are often perceived as so rare that the average practitioner will seldom encounter them. However, our increasing knowledge and technologic advances in prenatal diagnosis have demonstrated that this is far from the case. The availability of prenatal diagnosis for a wide range of disorders continues to increase with advances in other areas of genetics. In addition, progress has been made in population screening tests to identify couples who carry a genetic disorder. These improvements in prenatal screening and diagnosis mean that many more at-risk couples are able to have unaffected children. In addition to reproductive choice, carrier screening and foetal diagnostic testing afford the important opportunity for preparation of the family and the delivery site for the birth of a foetus with a known genetic disorder. Ultrasound plays a central role in the provision of prenatal screening and diagnosis. Not only is ultrasound key to guiding prenatal diagnostic procedures, but integration of a genetics-based prenatal diagnosis program has been shown to increase the accuracy of diagnosis when compared to ultrasound alone. This study includes a discussion of prenatal diagnosis by sonography and its contribution to the provision of accurate and precise prenatal diagnosis.
Seventy patients who came in for the routine anomaly scan were made to undergo USG scanning and the results are reported. This study is done in the Department of Radiodiagnosis and Imaging in Kanachur Institute of Medical Sciences, Deralakatte, Mangalore.
There was no significant correlation between nuchal translucency with other abnormalities in the first trimester and none of the malformations found were interrelated significantly with each other as the test for significance for interrelation came to be insignificant in the second trimester.
Indications for the sonography, the actual gestational age, the population which are under examination and experience of the examiner are all the factors that has to be looked before coming to a final diagnosis.