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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; 56(1):22-8AN

Abstract

BACKGROUND

There are limited data regarding noninvasive prenatal testing (NIPT) in low-risk populations, and the ideal aneuploidy screening model for a pregnant population has yet to be established.

AIMS

To assess the implementation of NIPT into clinical practice utilising both first- and second-line screening models.

MATERIALS AND METHODS

Three private practices specialising in obstetric ultrasound and prenatal diagnosis in Australia offered NIPT as a first-line test, ideally followed by combined first-trimester screening (cFTS), or as a second-line test following cFTS, particularly in those with a calculated risk between 1:50 and 1:1000.

RESULTS

NIPT screening was performed in 5267 women and as a first-line screening method in 3359 (63.8%). Trisomies 21 and 13 detection was 100% and 88% for trisomy 18. Of cases with known karyotypes, the positive predictive value (PPV) of the test was highest for trisomy 21 (97.7%) and lowest for monosomy X (25%). Ultrasound detection of fetal structural abnormality resulted in the detection of five additional chromosome abnormalities, two of which had high-risk cFTS results. For all chromosomal abnormalities, NIPT alone detected 93.4%, a contingent model detected 81.8% (P = 0.097), and cFTS alone detected 65.9% (P < 0.005).

CONCLUSIONS

NIPT achieved 100% T21 detection and had a higher DR of all aneuploidy when used as a first-line test. Given the false-positive rate for all aneuploidies, NIPT is an advanced screening test, rather than a diagnostic test. The benefit of additional cFTS was the detection of fetal structural abnormalities and some unusual chromosomal abnormalities.

Authors+Show Affiliations

Sydney Ultrasound for Women, Sydney, New South Wales, Australia. Sydney University, Sydney, New South Wales, Australia.Women's Ultrasound, Melbourne, Victoria, Australia. University of Melbourne, Melbourne, Victoria, Australia.University of Melbourne, Melbourne, Victoria, Australia. Monash Ultrasound for Women, Melbourne, Victoria, Australia.Monash Ultrasound for Women, Melbourne, Victoria, Australia.Women's Ultrasound, Melbourne, Victoria, Australia. Royal Women's Hospital, Melbourne, Victoria, Australia.Sydney Ultrasound for Women, Sydney, New South Wales, Australia. University of New South Wales, Sydney, New South Wales, Australia.

Pub Type(s)

Clinical Trial
Journal Article

Language

eng

PubMed ID

26817523

Citation

McLennan, Andrew, et al. "Noninvasive Prenatal Testing in Routine Clinical Practice--an Audit of NIPT and Combined First-trimester Screening in an Unselected Australian Population." The Australian & New Zealand Journal of Obstetrics & Gynaecology, vol. 56, no. 1, 2016, pp. 22-8.
McLennan A, Palma-Dias R, da Silva Costa F, et al. 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;56(1):22-8.
McLennan, A., Palma-Dias, R., da Silva Costa, F., Meagher, S., Nisbet, D. L., & Scott, F. (2016). Noninvasive prenatal testing in routine clinical practice--an audit of NIPT and combined first-trimester screening in an unselected Australian population. The Australian & New Zealand Journal of Obstetrics & Gynaecology, 56(1), pp. 22-8. doi:10.1111/ajo.12432.
McLennan A, et al. 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;56(1):22-8. PubMed PMID: 26817523.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Noninvasive prenatal testing in routine clinical practice--an audit of NIPT and combined first-trimester screening in an unselected Australian population. AU - McLennan,Andrew, AU - Palma-Dias,Ricardo, AU - da Silva Costa,Fabricio, AU - Meagher,Simon, AU - Nisbet,Debbie L, AU - Scott,Fergus, PY - 2015/05/01/received PY - 2015/11/21/accepted PY - 2016/1/29/entrez PY - 2016/1/29/pubmed PY - 2016/10/21/medline KW - NIPT KW - cell-free DNA KW - chromosome abnormality KW - prenatal KW - screening KW - ultrasound SP - 22 EP - 8 JF - The Australian & New Zealand journal of obstetrics & gynaecology JO - Aust N Z J Obstet Gynaecol VL - 56 IS - 1 N2 - BACKGROUND: There are limited data regarding noninvasive prenatal testing (NIPT) in low-risk populations, and the ideal aneuploidy screening model for a pregnant population has yet to be established. AIMS: To assess the implementation of NIPT into clinical practice utilising both first- and second-line screening models. MATERIALS AND METHODS: Three private practices specialising in obstetric ultrasound and prenatal diagnosis in Australia offered NIPT as a first-line test, ideally followed by combined first-trimester screening (cFTS), or as a second-line test following cFTS, particularly in those with a calculated risk between 1:50 and 1:1000. RESULTS: NIPT screening was performed in 5267 women and as a first-line screening method in 3359 (63.8%). Trisomies 21 and 13 detection was 100% and 88% for trisomy 18. Of cases with known karyotypes, the positive predictive value (PPV) of the test was highest for trisomy 21 (97.7%) and lowest for monosomy X (25%). Ultrasound detection of fetal structural abnormality resulted in the detection of five additional chromosome abnormalities, two of which had high-risk cFTS results. For all chromosomal abnormalities, NIPT alone detected 93.4%, a contingent model detected 81.8% (P = 0.097), and cFTS alone detected 65.9% (P < 0.005). CONCLUSIONS: NIPT achieved 100% T21 detection and had a higher DR of all aneuploidy when used as a first-line test. Given the false-positive rate for all aneuploidies, NIPT is an advanced screening test, rather than a diagnostic test. The benefit of additional cFTS was the detection of fetal structural abnormalities and some unusual chromosomal abnormalities. SN - 1479-828X UR - https://www.unboundmedicine.com/medline/citation/26817523/Noninvasive_prenatal_testing_in_routine_clinical_practice__an_audit_of_NIPT_and_combined_first_trimester_screening_in_an_unselected_Australian_population_ L2 - https://doi.org/10.1111/ajo.12432 DB - PRIME DP - Unbound Medicine ER -