Genetic Clinics
Volume 6 | Issue 4 | October-December 2013
GeNeDit
October-December 2013 | Vol 6 | Issue 4 | Pages 1-2
Prenatal Diagnosis – Over the Counter / Direct to Consumer Testing
Prenatal diagnosis was a very revolutionary concept in the prevention of a disease. Though it appears a very radical method, it got accepted almost worldwide and now has become an integral part of obstetric care. Availability of screening of all pregnant women for relatively common disorders like neural tube defects, thalassemia major and Down syndrome was another milestone in the prevention of genetic disorders....
Shubha R Phadke
ClinicalVignette
October-December 2013 | Vol 6 | Issue 4 | Pages 3-5
Mesomelic limb defects: a handle for prenatal diagnosis of Trisomy 18 syndrome
Trisomy 18 has been recognised as a definitive syndrome since 1960 when it was first described by Edwards et al. and is the second most common multiple malformation syndrome. The prevalence is approximately 1/6,000-1/8,000 live births and the overall prevalence, taking into account fetal losses and pregnancy terminations after prenatal 1 diagnosis, is 1/2500-1/2600...
Anju Shukla, Rekha Gupta, Moni Tuteja, Shubha R Phadke
GeNeViSTA
October-December 2013 | Vol 6 | Issue 4 | Pages 6-11
Cytogenetic Microarray: A revolution in Cytogenetics
Intellectual disability (ID) is the most common clinical situation encountered in medical genetics for counseling. Confirmation of diagnosis is the first step to provide prognosis, genetic counseling and option of prenatal diagnosis to the family. Despite the exhaustive investigations, etiology remains 1 unidentified in 30-50% of the cases. With the advent of molecular cytogenetic techniques...
Dr Meenal Agarwal
GeNeViSTA
October-December 2013 | Vol 6 | Issue 4 | Pages 12-18
Fetal Therapy- Current approaches and future possibilities
Strictly speaking, fetal therapy is defined as a therapeutic intervention for the purpose of correcting or treating a fetal anomaly or condition. However, in a broader sense, it encompasses any prenatal treatment administered to the mother with the primary indication to improve perinatal or long-term outcomes for the fetus or newborn...
Dr Shagun Aggarwal
HearToHearTalk
October-December 2013 | Vol 6 | Issue 4 | Pages 19-20
Short – on sensitivity!
Jayant and Rashmi (names changed) were married for a year now. It was a dream come true for Rashmi's three brothers- Anil, Anuj and Vimal (names changed). It was a perfect marriage and the couple looked beautiful together. Rashmi was young, slim, tall and pretty as a 'picture'.Jayant was a handsome young man and well settled financially...
Divya Aggarwal, Shubha R Phadke
GeNeXprESS
October-December 2013 | Vol 6 | Issue 4 | Pages 21
Inactivating the extra chromosome in Down syndrome
Down syndrome is the leading genetic cause of intellectual disability and millions of Down syndrome patients across the world also face multiple other health issues. Jiang et al tried the first chromosome therapy for Down syndrome with the idea of dosage compensation correction. They inserted the XIST gene in to the DYRK1A locus on chromosome 21 of induced pluripotent stem (iPS) cells derived from a Down syndrome patient...
SriLakshmi Bhavani
