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Volume 5 | Issue 1 | January-March 2012

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January-March 2012 | Vol 5 | Issue 1 | Pages 1-2
Medical Genetics in India: Catching up with the world!
The beginning of a new year always makes one look to the lower back. Though one may refrain from making socioeconomic strata and village folks. We are quite ambitious new plans or resolutions, one can't help late entrants into the arena of newborn screening as reflecting on one's achievements in the years that compared to other developing countries. But the have gone by. The last few years have been quite beginnings have been made and we hope that these satisfying for the growth of medical genetics in...

Shubha R Phadke
January-March 2012 | Vol 5 | Issue 1 | Pages 3-4
Medical Genetics in 2012
2012 seems to represent a point of change, that is, There is no "normal" human being. an exponential change in the influence and Medical genetic services in developed countries are applicability of genetics to health care systems. sometimes considered a luxury, but the public Multiple factors seem to be coming together, health data is clear that provision of diagnostic including the internet, the availability of the genetic services leads to markedly improved care, sequence of the human genome, systems biology...

Dr Judith G Hall
January-March 2012 | Vol 5 | Issue 1 | Pages 5-7
Prenatal Diagnosis of Congenital Hyperinsulinism Caused by Mutations in ABCC8 (SUR1) Gene
Previous child with developmental delay is a A 36-year-old third gravida was referred to our common indication for prenatal diagnosis in the department for prenatal diagnosis at 13 weeks of subsequent pregnancies. Clinical evaluation and gestation as the previous child had developmental investigations of the index case are necessary to delay. The index case was an 8-year-old boy, who confirm the cause of delay. Correct etiological had global developmental delay. He was born at 36 diagnosis is a must for accurate prenatal diagnosis...

Preethi Anand Kumar, Raj Bokaria*, Sarita Agarwal*, Seema Thakur
January-March 2012 | Vol 5 | Issue 1 | Pages 8-13
Fetal Ventriculomegaly
Central nervous system malformations are amongst the commonest malformations detected antenatally. Assessment of cerebral ventricles remains an important part of antenatal ultrasound. Ventriculomegaly is a term which defines the enlargement of ventricles in brain. It usually..

Meenal Agarwal, Shubha R Phadke
January-March 2012 | Vol 5 | Issue 1 | Pages 14-15
Late termination of pregnancies for severe fetal abnormalities: To do or not to do?
A thirty-two-year-old second gravida, a resident of Bihar married non-consanguineously, visited our genetics clinic at 31 weeks of gestation for prenatalcounseling for antenatally detected short fetal limbs. On taking a detailed family history, it was found that there was history of a previous ...

Neerja Gupta, Madhulika Kabra
January-March 2012 | Vol 5 | Issue 1 | Pages 16-17
Exome sequencing: translating genetic research into patient care
Over the past few years exome sequencing has emerged as a powerful tool for genetic research and its utility in mapping genes for Mendelian disorders has been well documented. However, so far its applicability in a clinical setting has been limited Worthey et al have now demonstrated the utility of exome sequencing as a clinical diagnostic modality...

Prajnya Ranganath