Position statement from the International Society for Prenatal Diagnosis on the use of non-invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies

Lisa Hui^{1

2

3

4}, Katie Ellis⁵, Dora Mayen⁶, Mark D Pertile⁷, Rebecca Reimers^{8

9}, Luming Sun¹⁰, Joris Vermeesch¹¹, Neeta L Vora¹², Lyn S Chitty^{13

14}

Affiliations

¹ Department of Obstetrics and Gynaecology, University of Melbourne, Parkville, Victoria, Australia.
² Reproductive Epidemiology Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
³ Department of Perinatal Medicine, Mercy Hospital for Women, Heidelberg, Victoria, Australia.
⁴ Department of Obstetrics and Gynaecology, Northern Health, Epping, Victoria, Australia.
⁵ Illumina ANZ, Sydney, New South Wales, Australia.
⁶ Genetics Clinic, Hospital Angeles Lomas, Estado de Mexico, Mexico.
⁷ Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
⁸ San Diego Perinatal Center, Rady Children's Hospital, San Diego, California, USA.
⁹ Scripps Research Institute, La Jolla, California, USA.
¹⁰ Department of Fetal Medicine & Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.
¹¹ Centre for Human Genetics, KU Leuven, Leuven, Belgium.
¹² Department of Obstetrics and Gynecology, University of North Carolina at Chapel Hill, Division of Maternal Fetal Medicine, Chapel Hill, North Carolina, USA.
¹³ Great Ormond Street NHS Foundation Trust, London, UK.
¹⁴ UCL Great Ormond Street Institute of Child Health, London, UK.

Lisa Hui et al. Prenat Diagn. 2023 Jun.

. 2023 Jun;43(7):814-828.

doi: 10.1002/pd.6357. Epub 2023 May 16.

Lisa Hui^{1

2

3

4}, Katie Ellis⁵, Dora Mayen⁶, Mark D Pertile⁷, Rebecca Reimers^{8

9}, Luming Sun¹⁰, Joris Vermeesch¹¹, Neeta L Vora¹², Lyn S Chitty^{13

14}

¹ Department of Obstetrics and Gynaecology, University of Melbourne, Parkville, Victoria, Australia.
² Reproductive Epidemiology Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
³ Department of Perinatal Medicine, Mercy Hospital for Women, Heidelberg, Victoria, Australia.
⁴ Department of Obstetrics and Gynaecology, Northern Health, Epping, Victoria, Australia.
⁵ Illumina ANZ, Sydney, New South Wales, Australia.
⁶ Genetics Clinic, Hospital Angeles Lomas, Estado de Mexico, Mexico.
⁷ Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
⁸ San Diego Perinatal Center, Rady Children's Hospital, San Diego, California, USA.
⁹ Scripps Research Institute, La Jolla, California, USA.
¹⁰ Department of Fetal Medicine & Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.
¹¹ Centre for Human Genetics, KU Leuven, Leuven, Belgium.
¹² Department of Obstetrics and Gynecology, University of North Carolina at Chapel Hill, Division of Maternal Fetal Medicine, Chapel Hill, North Carolina, USA.
¹³ Great Ormond Street NHS Foundation Trust, London, UK.
¹⁴ UCL Great Ormond Street Institute of Child Health, London, UK.

No abstract available

References

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1. Chandrasekharan S , Minear MA , Hung A , Allyse M . Noninvasive prenatal testing goes global. Sci Transl Med. 2014;6(231):231fs15. https://doi.org/10.1126/scitranslmed.3008704
1. Dondorp W , de Wert G , Bombard Y , et al. Bet al; European Society of Human Genetics; American Society of Human Genetics. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Eur J Hum Genet. 2015;23(11):1438-1450. https://doi.org/10.1038/ejhg.2015.57
1. Vanstone M , Cernat A , Majid U , Trivedi F , De Freitas C . Perspectives of pregnant people and clinicians on noninvasive prenatal testing: a systematic review and qualitative meta-synthesis. Ont Health Technol Assess Ser. 2019;19(5):1-38.
1. Benn P , Borrell A , Chiu RW , et al. Position statement from the chromosome abnormality screening committee on behalf of the board of the international society for prenatal diagnosis. Prenat Diagn. 2015;35(8):725-734. https://doi.org/10.1002/pd.4608