National Ethical Guidelines for Biomedical and Health Research Involving Human Participants, 2017: A commentary

The Indian Council of Medical Research (ICMR) has been at the forefront in setting up the ethical guidance for the conduct of biomedical and health research in India. The latest version of National Guidelines for Biomedical and Health Research Involving Human Participants, 2017 was planned in order to provide a more detailed guidance to the existing topics in view of emerging ethical concerns and to add a number of newer areas in which guidance was lacking. The scope of the guidelines has been expanded to include socio-behavioural research related to health and research involving biological material and datasets. The guidelines have 12 sections which cover a wide range of topics and areas of research. The first six sections are more generic, applying to all types of biomedical and health research, while the next six sections are more subject specific. The guidelines have been revised in consultation with a large number of experts and stakeholders and went through an exhaustive process stretching over a period of two years in its drafting, review, consultation and finalisation. This commentary seeks to explain the process and key components of the Guidelines.

Rapid prenatal karyotyping using foetal blood obtained by cordocentesis.

BACKGROUND: Prenatal karyotyping using foetal blood samples obtained by cordocentesis is a useful method of detecting abnormal chromosomes in the foetus. METHODS: Cordocentesis was performed in 187 cases for prenatal karyotyping between January 1995 and September 2000. Pregnant women were between 18 and 38 weeks of gestation and their ages ranged from 18 to 40 years. The common indications were ultrasonographic abnormalities (47.6%), history of previous Down syndrome (13.3%), advanced maternal age (11.7%), low maternal serum alpha foetoprotein levels (10.7%), previous child with malformation (10.7%), previous child with trisomy (chromosome 13/18) (2.6%), parent a balanced translocation carrier (1.6%) and high maternal serum alpha foetoprotein levels (1.6%). RESULTS: Analysis of 137 successful cultures showed 8 (5.2%) karyotype abnormalities. The remaining samples could not be reported due to the presence of maternal contamination of the sample (12.3%), inadequate sample (6.4%) or culture failure (9.8%). In those with an abnormal karyotype, obstetric management could be altered appropriately. CONCLUSION: In foetuses at high risk of a chromosomal aberration, a rapidly obtained karyotype is helpful in obstetric management.

Molecular Characterisation Of Mutations In Congenital Adrenal Hyperplasia In Indian Subjects.

Congenital adrenal hyperplasia (CAH) is one of the most common outosomal recessive condition causing ambiguous genitalia in females. Often, it's a life threatening condition occurring with 1 in 5000 to 15000 live births and caused due to mutations in CYP21 gene encoding the enzyme 21-hydroxylase. 25 cases of CAH reporting at All India Institute of Medical Sciences, New Delhi, were analysed for mutations in the gene CYP21 and the results are discussed.