Thalassemia can not be preclude , but can be observe prior to birth . As the disease is caused due to chromosomal mutation in genes , the DNA analysis of the fetus can be done to diagnose the disease .
Can Thalassemia Be Detected Before Birth?
Carrier Screening : Thalassemia is the disease which is caused due to the cistron sport . It is an transmissible disease in which the mutant gene is present in the parent . Thus , if the symptoms are not present in the parent and the mutate factor is present in them , they are allege to be the carrier of the disease . Thus , newsboy screening can be done to estimate the occurrence of thalassemia in the offspring . If both the parents are carrier , the chance of having a normal sister is 25 % , chance of having a mail carrier is 50 % and chances of having baby with grave thalassemia is 25 % . Thus , through carrier screening , product for Mediterranean anemia can be done .
Preimplantation Diagnosis : With the Second Coming of new technology such as in vitro fertilization and fertilized egg transferee , it is possible to find the disease prior to implantation and development of fetus . Pre - implantation genetic diagnosis can be done to observe the presence of Mediterranean anemia . The elaboration of the genome of blastomere is done prior to testing the nowadays of abnormal gene . The technique used for this purpose is Polymerase Chain Reaction ( PCR ) . The pre - implantation diagnosis is an authoritative , non - invasive and speedy method to notice the presence of Mediterranean anaemia . This is important in reduce the subject of break of gestation coupled with moral and ethical dilemma .
Prenatal Diagnosis : The concept of prenatal diagnosis for Mediterranean anaemia was originate in 1970s when the foetal blood was hold through aspiration and the globin chain synthetic thinking was perform . After that , the applied science has call for a leap forward and through sophisticated DNA analysis , the antepartum diagnosis has significantly improved . The technique used in the diagnosis is Polymerase chain response ( PCR ) . Under this technique the methods used are Reverse Oligonucleotide - probe analysis and Amplification Refractory Mutation System . The currently adopt method acting for taking the sample is the chorionic villi method , taken in the early week of gestation . It is generally used transabdominally due to downhearted risk of infection .
counsel And Interruption Of Pregnancy : When through any of the diagnostic technique it has been discover that the foetus is at the risk of suffering from thalassemia or conclusively suffering from thalassemia , counsel is supply to the couplet . If both the parent are carrier and they are design to have a babe , the peril and symptom of thalassemia are described , and they are advised to miss their plan . Further , if the diagnosis of the disease is support in the antepartum diagnosing , the parent are rede for break of pregnancy . The interruption of maternity can be done , keeping in context , the applicable law have-to doe with to aesculapian termination of pregnancy in that particular state .
Thalassemia Prognosis
The prognosis of the disease depends upon the rigourousness of the disease , few the figure of genes mutate , less severe the disease and more the luck of survival . The patient with thalassemia small or trait does not have any symptom and did not require any discussion unless smoothing iron deficiency is conclusively diagnosed . The prognosis of such patient is ripe . The severe shape of the disease , thalassaemia major , do severe anatomy of genus Anemia . medical prognosis of such patient is poor as they develop various ramification later in aliveness .
Various methods used for diagnosing of thalassemia prior to nascency are per natal diagnosing , carrier showing , and pre - implantation diagnosing . The technique used for DNA analysis is Polymerase chain chemical reaction .
Also Read :
