Improved genetic screening tests, rapid advances in DNA technology like Array and Non-Invasive Pre-Natal Screening (NIPS) is making swift and accurate diagnosis of genetic defects possible. These tests have made it possible for early detection of various serious genetic diseases like Down’s syndrome, thalassemia, muscular dystrophy as well as birth defects.

"As these techniques are likely to be used for non-medical indications like sex selection of the unborn baby, this is to be prevented by complete compliance by all the stakeholders of the pre-conception and pre-natal diagnostic (prohibition of sex selection) act, (PC-PNDT) Act, 1994 and 1996 all over the country.” said Dr Sharad Gogate, president, Indian Society for Prenatal Diagnosis and Therapy (ISPAT) on the sidelines of 12 Biennial Conference of ISPAT held in Mumbai between September 19 & 21, 2014.

Both national and international experts on the occasion advocated that obstetricians, geneticists and counselors should take the onus to curb such malpractices arising out of non-compliance to PC-PNDT Act. Similar thoughts were also shared by Dr Raju Sahetya, president elect, ISPAT on the occasion.

Dr Gogate further explained, "With rapid advances in imaging modalities like conventional USG, 3-D, 4-D scans, Sono-CT and MRI, ability to study the foetus in health and disease has improved considerably. In spite of these advances, direct access to foetal tissues through amniocentesis (fluid around foetus), chorion villous sampling (removal of tissue from the placenta) etc are still required in large number of disorders for confirmation of diagnosis, prognostication and as part of foetal therapy."

Talking about the issues surrounding clinical diagnostic procedures, Dr Gogate and Dr Sahetya elaborated that lack of properly trained clinicians, non-availability, improper utilisation of ultrasonography equipment, shortage of multi-speciality foetal medicine centres, lack of co-ordination, planning between clinic/laboratory, improperly/poorly filled referral proformas, lack of understanding about each other’s difficulties, between the clinical and laboratory teams and improper pre and post procedure counseling are some of the problem areas.

Dr Usha Dave, vice president, ISPAT also stressed the need for properly trained genetic counsellors and use of USG guided simulators models for training. Experts suggested that to overcome these hurdles collaboration with training institutes like Center of Excellence for Minimal Access Surgery Training (CE- MAST), Mumbai major hospitals and teaching institutes should start PC-PNDT approved training courses. It was also suggested to develop USG guided simulation models for training, virtual reality surgery and consider animal models or harvested organs for training. This would give a boost to the pre-natal diagnosis and therapy."

Today, genetic tests like amniocentesis and chorion villous sampling (CVS) costs Rs.15, 000 to Rs.17, 000 and Maternal Serum Screening (MSS) costs around Rs.3,000 to Rs.4,000 in the private labs. As such facilities are not available in public sector healthcare institutions, poor, non-affording patients are deprived of these facilities. Hence, it is necessary for the public sector institutions (municipal, government hospitals) to make these services available to poor patients at an affordable cost.

“It is also necessary to set up birth defects registry to know the incidence of serious birth defects. The government must introduce national policy of screening for serious disorders like thalassemia, sickle cell anaemia and inborn errors of metabolism (IEM). The Government of India has already set up a task force for screening for IEMs and is starting national screening for thalassemia,” informed Dr Gogate.

The international faculty who participated in the event included Prof. Aubrey Milunsky from Boston, USA, Dr Peter Benn from Connecticut, USA as well as Dr Takabayashi from Japan, Dr Jhang from China, Dr Amar Bhide from UK.