Antenatal Diagnosis Of Sickle Disease and B Thalassemia Major

4th Pediatric Infectious Diseases Conference

ISSN 0973 - 0958

Thalassemia

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Rakesh Kumar, Binay Ranjan, Manjul Vijay Department of Pediatrics, Katihar medical college, Katihar...

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	Specialist Answers
Question
ANTENATAL DIAGNOSIS OF SICKLE DISEASE & B THALASSEMIA MAJOR. If parents are sickle trait or Thalassemia minor which material to send for antenatal check up, at what stage of gestation, at which place and what is the cost of the test?
Answer
For thalassemia major, until the development of DNA technologies, prenatal diagnosis was carried out by estimating the rate of globin chain synthesis in fetal blood samples and it is still a method of choice where DNA mutations are unidentified in parents, or when the couples report for the first time with advanced pregnancy. It is done at Immunohematology, KEM, Mumbai. In this procedure fetal blood sample is collected after 18 weeks of gestation and globin chains are separated. DNA analysis can be done by offering prenatal diagnosis to the couples. It is essential to characterize the DNA mutations of the parents. Fetal DNA analysis could be done by extracting DNA from amniotic fluid after 15 weeks of gestation and chronic villus samples (CVS) between 10-12 weeks or later gestation. For sickle cell anemia, the discovery of the linkage between the HbS gene and restriction endonuclease polymorphism enables the diagnosis to be made prenatal by analyzing genomic DNA of fetal cells obtained by amniocentesis. This procedure carries only a 0,5 % fetal risk. There are two main laboratory test performed on the amniotic fluid obtained: Polymerase Chain Reaction (PCR) + Enzyme detection of the mutation Polymerase Chain Reaction + Oligonucleid hybridization These techniques are done at AIIMS and at I.C.Verma Back to All Questions

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