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Revised statement Prenatal screening and diagnostic testing for fetal chromosomal and genetic conditions (C-Obs 59)

13 August 2018

During July Council week, the RANZCOG Council and Board approved revisions to the statement, Prenatal screening and diagnostic testing for fetal chromosomal and genetic conditions (C-Obs 59).  The statement was developed and revised in collaboration between RANZCOG and the Human Genetics Society of Australia (HGSA). It is likely to have important implications for your practice, and for the women and families you treat.

 

As you are aware, this statement covers a rapidly evolving area that has seen many changes in screening for fetal chromosomal conditions over the past few years, and so there have been extensive edits to this document.

 

A summary the key changes include:

 

  • A change in title from “Prenatal screening of chromosomal and genetic conditions in the fetus” to “Prenatal screening and diagnostic testing for fetal chromosomal and genetic conditions”.
  • New recommendations, which do not change the content of the document but highlight the key recommendations of acceptable practice.
  • Acceptable screening tests for first and second trimester have been separated and made more explicit.
  • The triple test and quadruple test has been referred to as Maternal Serum Screening +/- so it is relevant to all jurisdictions.
  • If a patient requests diagnostic testing, it is appropriate to offer it following counselling.
  • An agreement that women of a low probability of common monogenic conditions should be offered information on carrier screening, including the benefits, limitations and associated costs.

 

You can find the statement here. An editorial and FAQ has been published in the recent edition of ANZJOG to assist with frequently asked questions on non-invasive screening providing further information regarding the statement.

 

In addition, the College has also developed  a stand-alone statement on carrier screening which can be viewed here.


 




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