Thursday, 6 June 2019

Screening of foetus for chromosomal abnormality


This is an ongoing debate for last one  decade :- Topic is :-Universal or Selective costly tests A) Double marker tets(serum for beta HCG & PAPP-A)  & also B) NIPT are  costly:-So the question arises “Are  NIPT or Double marker  mandatory for all ( these are  biochemical markers) -,if the NT scan is normal- This is an ongoing debate for last one  decade ?Top of Form
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 Ans:-No, Not mandatory. But better to tell your patients about the1)  options available and 2) the accuracy of each test.3)costs thereof ,Better to document in the records. Some times NT is  normal but the double marker report comes as  “high risk”= then  ,if the pt cant afford for CVS or say amniocentesis for confirmation  of chromosomal ab  not. Then what can we do? What should be our philosophy particularly who are engaged in private practice?? ? Ans:- Put in such situation we have to explain high risk requires investigation further to rule out t21 13 18 as per results. Advise amniocentesis preferably in Govt hospitals. Medical colleges where it should be affordable
 But one use his/her own judgment in practice life , & many ask for this tets Only if needed . But Dr Pal does NT routinely.

 I counsel the couple and offer d test, some choose to do..Some don't..
Some go home rethink n come back and
 NT should never be interpreted independently (NT, Double marker & NIPT all are screening tests). The first trimester screening is a COMBINED SCREENING and the total risk is calculated only after dual markers, NT, and maternal age. It does only in multiple pregnancies where the biochemical tests don't give definite results n one can rely on NT of each fetus. But still pregnancy can't be terminated for one abnormal fetus.
So dual markers are mandatory with NT
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 N according to screening guidelines, combined screening should be offer This is an ongoing debate for last one decade ed to all ANC pts. They might refuse but not offering is a medico legal issue. It  is like HIV testing –optional, .You may opt out or offer consent.  Like HIV this three screening tets must have pre test & post test counseling




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