Position Statement from the Italian College of Fetal Maternal Medicine

Position Statement from the Italian College of Fetal Maternal Medicine

2013 April-June; 7(2): 19–20. ISSN: 1971-3282 ISSN: 1971-3290

Position Statement from the Italian College of Fetal Maternal Medicine

Non-invasive prenatal testing (NIPT) by maternal plasma DNA sequencing

In recent years, researchers have been trying to isolate traces of foetal DNA from maternal blood in order to identify a possible Down’s syndrome foetus and, trisomy of chromosomes 13 and 18.
At present, all International literature and the current Guidelines are against the utilization of such screening for clinical diagnostic purposes in general populations. In fact, the tests are extremely interesting but, for the moment, confined among the less proven prenatal Down screening. That’s why at moment there are too many uncertainties for to be used in diagnostics routine.
According to the position statement from:

• - International Society for Prenatal Diagnosis (ISPD)(1);


• - American College of Medical Genetics and Genomics (ACMG)(2);


• - American College of Obstetricians and Gynaecologists Committee on Genetics (ACOGG)(3);


• - California Technology Assessment Forum (CTAF)(4);


• - National Italian Guide Lines(5).

The Italian College of Fetal Maternal Medicine stated the present document:
 

Recommendations

• - Screening for Down’s syndrome through the search for fetal DNA in maternal blood must not be encouraged as a first choice, given there are many combined screening tests that have been widely experimented and which, today, can be considered to be more reliable;


• - Pregnant women that opt for the prenatal screening of aneuploidy through the analysis of foetal DNA in maternal blood must be informed that such testing does not provide clinically validated results;



• - The recent widespread use of such testing in clinical practice has not been supported by the International scientific community and their commercial sale by promoting companies and laboratories creates risks for those who use them for diagnostic purposes from a legal point of view. Therefore, the clinic, in order to operate correctly, and to be sufficiently safeguarded against disputes regarding professional.
  
  Responsibility, must state that:
  
  
  
  
  • The clinical use of such screening is not valid and cannot yet substitute combined tests;
  
  
  • There is a huge difference between a screening test and a diagnostic test. If a pregnant woman is looking for certainty in testing his own baby, they must be informed that the only diagnostic tests available are those carried out on foetal material extracted by CVS or amniocentesis.
  
  
  
   
  
  Footnotes
  
  
  
  Italian College of Fetal Maternal Medicine, May 2013
   
  
  
  
  

  
  References

  
  

  
  

  
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  Benn, Peter., (Chair); Borell, A.; Chiu, R.; Cuckle, H.; Dugoff, L.; Faas, B.; Gross, S.; Johnson, J.; Maymon, R.; Norton, M.; Odibo, A.; Schielen, P.; Spencer, K.; Huang, T.; Wright, D.; Yaron, Y. Position Statement from the Aneuploidy Screening Committee on Behalf of the Board of the International Society for Prenatal Diagnosis. 2013 April;

  
  

  
  

  
  

  
  2.

  
  

  
  ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Gregg AR, Gross SJ, Best RG, Monaghan KG, Bajaj K, Skotko BG, Thompson BH, Watson MS. The Noninvasive Prenatal Screening Work Group of the American College of Medical Genetics and Genomics.

  
  

  
  

  
  

  
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  American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 545: Noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol. 2012 Dec;120(6):1532–4.

  
  

  
  

  
  

  
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  CTAF© 2012 California Technology Assessment Forum.

  
  

  
  

  
  

  
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  www.ilfeto.it .

  
  

  
  

  
  

  
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  Odibo AO, Gray DL, Dicke JM, Stamilio DM, Macones GA, Crane JP. Revisiting the fetal loss rate after second-trimester genetic amniocentesis: a single center’s 16-year experience. Obstet Gynecol. 2008 Mar;111(3):589–95.

  
  

  
  

  
  

  
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  Giorlandino C, Cignini P, Cini M, Brizzi C, Carcioppolo O, Milite V, Coco C, Gentili P, Mangiafico L, Mesoraca A, Bizzoco D, Gabrielli I, Mobili L. Antibiotic prophylaxis before second-trimester genetic amniocentesis (APGA): a single-centre open randomised controlled trial. Prenat Diagn. 2009 Jun;29(6):606–12.

  
  

  
  

  
  

  
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  CHAPTER 7 - Prenatal Genetic Diagnosis. 5th ed. 2007. Gabbe Obstetrics: Normal and Problem Pregnancies.

  
  

  
  

  
  

  
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  van den Heuvel A, Chitty LS, Hogg J, Marteau TM. Will noninvasive prenatal diagnosis using free fetal nucleic acids in maternal blood erode informed choices? Prenat Diagn. 2008;28:S16.

  
  

  
  

  
  

  
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  Marteau TM, Chitty LS. Fetal sexing: Global Perspectives on Practices. Ethics and Policy Prenat Diagn. 2006;26:597–647.

  
  

  
  

  
  

  
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  Wright, C. Cell-free Fetal Nucleic Acids for Non-invasive Prenatal Diagnosis, report of the UK Expert Working Group. Cambridge: PHG Foundation; 2009.

  
  

  
  

  
  

  
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  Brady P, Ardui S, Vermeesch JR. The Future of Prenatal Cytogenetics: From Copy Number Variations to Non-invasive Prenatal Testing. Curr Genet Med Reports. 2013 Jun;1(2):91–98.

  
  

  
  

  
  

  
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  Nicholas J, Wald NJ, Jonathan P. Best wick Incorporating DNA sequencing into current prenatal screening practice for Down’s syndrome. PLOS ONE. 2013;8(3):e58732.

  
  

  
  

  
  

  
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  Agarwal A, Sayres LC, Cho MK, Cook-Deegan R, Chandrasekharan S. Commercial landscape of non-invasive prenatal testing in the United States. Prenat Diagn. 2013 Jun;33(6):521–31.