Testing of Cell-free Dna in Maternal Blood for Chromosomal Abnormalities

Non-Invasive prenatal testing with cell-free DNA for fetal trisomies, 21,18 and 13 in an ART population.

Dr Fabricio Costa 1, Andrew McLennan 2, Dr Simon Meagher 1, Dr Melody Menezes 1, Prof Jon Hyett 3

1 Monash Ultrasound for Women, Clayton; 2 Sydney Ultrasound for Women, Burwood; 3 Royal Prince Alfred Hospital, Sydney

At present the most accurate form of screening for the common chromosomal abnormalities (trisomies 21 [Down syndrome], 18 [Edward syndrome] and 13 [Patau syndrome] is by ultrasound assessment of the nuchal translucency and a blood test examining placental proteins, usually performed at 11-13 weeks gestation. This is usually referred to as first trimester combined screening (FTCS).

Recently a new screening test has become available which involves testing cell-free DNA in a blood sample from the mother. This test is usually referred to as non-invasive prenatal testing (NIPT) and the early indications are that it is very accurate, particularly with respect to Down syndrome.


The objective of this study is to assess the performance of NIPT screening in women who are pregnant following assisted reproduction and comparing the screening outcomes with those from the standard FTCS. This project will help determine the most accurate screening test for the major chromosome abnormalities in patients who are pregnant following assisted reproduction.
Reference: McLennan A, Palma-Dias R, da Silva Costa F, Meagher S, Nisbet DL, Scott F. Noninvasive prenatal testing in routine clinical practice – An audit of NIPT and combined first-trimester screening in an unselected Australian population. Aust N Z J Obstet Gynaecol. 2016 Feb;56(1):22-8.

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