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Volume 4 | Issue 2 | April To June 2011

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April To June 2011 | Vol 4 | Issue 2 | Pages 1-2
Indo US Symposium on Skeletal Dysplasia
Diagnosis and management of genetic disorders has evolved as a medical speciality. Common genetic disorders like thalassemia, hemophilia, duchenne muscular dystrophy are usually taken care of by pediatricians, internists or respective specialists. But manyny genetic disorders are very rare and the improved ability to provide...

Shubha R Phadke
April To June 2011 | Vol 4 | Issue 2 | Pages 3-4
Fetal Valproate Syndrome: Report of three cases with congenital heart disease and facial dysmorphism
Children exposed to intrauterine teratogens are at risk of birth defects and deficit in cognitive functions. Maternal epilepsy and use of antiepileptic drugs (AED's) is one of the important teratogens associated with various clinical features in offspring. In majority, maternal epilepsy and AED's are safe during pregnancy with no...

Siddram J Patil, Viralam S Kiran, Sandeep Kudale
April To June 2011 | Vol 4 | Issue 2 | Pages 5-6
Progressive Diaphyseal Dysplasia
Progressive Diaphyseal Dysplasia [(camurati-engelmann disease (CED); OMIM 131300)] is characterized by progressive expansion and sclerosis predominantly affecting the diaphyses of the long bones. It typically presents in childhood with generalized muscle weakness, lower limb pains and waddling...

Shamsi Abdul Hameed, Hitesh Shah
April To June 2011 | Vol 4 | Issue 2 | Pages 7-9
New born with Downs Syndrome: Care and Counseling
Birth of a child in a family is very exciting, enjoyable and happy moments for the parents. Everybody expects a normal and healthy child. Parents dream about the child and makes plans for the future throughout the pregnaancy. With such expectations, when a child with a malformation or a birth defet is born, it shatters the lives of the parents. Ofcourse the family wants to treat..

Shubha R Padke, Rekha Gupta
April To June 2011 | Vol 4 | Issue 2 | Pages 10-12
Preimplantation Genetic Diagnosis
Preimplantation Genetic Diagnosis (PGD) is an alternative to prenatal diagnosis and is applicable to couples who are at risk of genetic disease in the offspring and want to avoid pregnancy termination. PGD involves a diagnosis of a genetic disorder in embryos obtained in vitro fertilization (IVF), selection of healthy embryos, and transferring them to the mother...

Dr Seema Thakur
April To June 2011 | Vol 4 | Issue 2 | Pages 13-17
Quantitatvie Fluorescent Polymerase Chain Reaction (QF-PCR) for Aneuploidy detection
Prenatal testing for aneuploidy (changes in the chromosomal number) has undergone a major change from the time the first prenatal diagnosis of downs syndrome using amniotic cells was reported. Over the past four decades, different invasive techniques have been developed, which involve collection of amniotic fluid...

Vasudevan TG, Vahab SA, Girisha KM, Gopinath PM, Sathyamoorthy K