References
- Allyse, M., et al., 2015. Non-invasive prenatal testing: a review of international implementation and challenges. International Journal of Women’s Health, 7, 113–126.
- American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Obstetrics; Committee on Genetics; Society for Maternal-Fetal Medicine. 2020. Screening for fetal chromosomal abnormalities: ACOG practice bulletin, Number 226. Obstetrics Gynecology, 136, e48–e69.
- Bardi, F., et al., 2020. Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening? Prenatal Diagnosis, 40 (2), 197–205.
- Bedei, I., et al., 2021. Chances and challenges of new genetic screening technologies (nipt) in prenatal medicine from a clinical perspective: A narrative review. Genes, 12 (4), 501.
- Bowman-Smart, H., et al., 2020. Sex selection and non-invasive prenatal testing: A review of current practices, evidence, and ethical issues. Prenatal Diagnosis, 40 (4), 398–407.
- Cernat, A., et al., 2019. Facilitating informed choice about non-invasive prenatal testing (NIPT): a systematic review and qualitative meta-synthesis of women’s experiences. BMC Pregnancy and Childbirth, 19 (1), 27.
- Chen, Y., et al., 2019. Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 42,910 single pregnancies with different clinical features. Human Genomics, 13 (1), 60.
- Chitty, L. S., Hudgins, L. and Norton, M. E., 2018. Current controversies in prenatal diagnosis 2: Cell-free DNA prenatal screening should be used to identify all chromosome abnormalities. Prenatal Diagnosis, 38 (3), 160–165.
- Fonda Allen, J., Stoll, K. and Bernhardt, B. A., 2016. Pre- and post-test genetic counseling for chromosomal and Mendelian disorders. Seminars in Perinatology, 40 (1), 44–55.
- Gadsboll, K., et al., 2020. Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation. Acta Obstetricia et Gynecologica Scandinavica, 99 (6), 722–730.
- Gregg, A. R., et al., 2016. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genetics in Medicine : official Journal of the American College of Medical Genetics, 18 (10), 1056–1065.
- Johnston, M., et al., 2023. Ethical issues associated with prenatal screening using non-invasive prenatal testing for sex chromosome aneuploidy. Prenatal Diagnosis, 43 (2), 226–234.
- Kater-Kuipers, A., et al., 2020. Rethinking counselling in prenatal screening: An ethical analysis of informed consent in the context of non-invasive prenatal testing (NIPT). Bioethics, 34 (7), 671–678.
- Kostenko, E., et al., 2019. Clinical and Economic Impact of Adopting Noninvasive Prenatal Testing as a Primary Screening Method for Fetal Aneuploidies in the General Pregnancy Population. Fetal Diagnosis and Therapy, 45 (6), 413–423.
- Kozlowski, P., et al., 2019. DEGUM, ÖGUM, SGUM and FMF germany recommendations for the implementation of first-trimester screening, detailed ultrasound, cell-free DNA screening and diagnostic procedures. Ultraschall in Der Medizin, 40 (2), 176–193.
- Kruszka, P., et al., 2017. 22q11.2 deletion syndrome in diverse populations. American Journal of Medical Genetics. Part A, 173 (4), 879–888.
- Lau, T. K., et al., 2012. Clinical utility of noninvasive fetal trisomy (NIFTY) test–early experience. The Journal of Maternal-Fetal & Neonatal Medicine, 25 (10), 1856–1859.
- Liehr, T., 2021. Non-invasive Prenatal Testing, What Patients Do Not Learn, May Be Due to Lack of Specialist Genetic Training by Gynecologists and Obstetricians? Frontiers in Genetics, 12, 682980.
- Minear, M. A., et al., 2015. Global perspectives on clinical adoption of NIPT. Prenatal Diagnosis, 35 (10), 959–967.
- Oepkes, D., et al., 2014. Counseling for non-invasive prenatal testing (NIPT): what pregnant women may want to know. Ultrasound in Obstetrics & Gynecology: The Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 44 (1), 1–5.
- Oxenford, K., et al., 2017. Development and evaluation of training resources to prepare health professionals for counselling pregnant women about non-invasive prenatal testing for Down syndrome: a mixed methods study. BMC Pregnancy and Childbirth, 17 (1), 132.
- Pang, Y., et al., 2021. Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases. Molecular Cytogenetics, 14 (1), 31.
- Pei, Y., et al., 2020. Efficiency of noninvasive prenatal testing for the detection of fetal microdeletions and microduplications in autosomal chromosomes. Molecular Genetics & Genomic Medicine., 8, e1339.
- Petersen, A. K., et al., 2017. Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory. American Journal of Obstetrics and Gynecology, 217 (6), 691 e1-691–e6.
- Pw Soothill, L. Y., 2014. Scientific impact paper No. 15: Non-invasive prenatal testing for chromosomal abnormality using maternal plasma DNA. The Obstetrician & Gynaecologist, 16, 148–148.
- Riggan, K. A., et al., 2021. Prenatal genetic diagnosis of a sex chromosome aneuploidy: Parent experiences. Journal of Genetic Counseling, 30 (5), 1407–1417.
- Sachs, A., et al., 2015. Recommended pre-test counseling points for noninvasive prenatal testing using cell-free DNA: a 2015 perspective. Prenatal Diagnosis, 35 (10), 968–971.
- Shaw, J., et al., 2020. Preimplantation genetic testing: Non-invasive prenatal testing for aneuploidy, copy-number variants and single-gene disorders. Reproduction, 160 (5), A1–A11.
- Suciu, I. D., et al., 2019. Non-invasive prenatal testing beyond trisomies. Journal of Medicine and Life, 12 (3), 221–224.
- van der Meij, K. R. M., et al., 2019. TRIDENT-2: national implementation of genome-wide non-invasive prenatal testing as a first-tier screening test in The Netherlands. American Journal of Human Genetics, 105 (6), 1091–1101.
- Yang, L. and Tan, W. C., 2020. Prenatal screening in the era of non-invasive prenatal testing: a Nationwide cross-sectional survey of obstetrician knowledge, attitudes and clinical practice. BMC Pregnancy and Childbirth, 20 (1), 579.
- Yotsumoto, J., et al., 2016. A survey on awareness of genetic counseling for non-invasive prenatal testing: the first year experience in Japan. Journal of Human Genetics, 61 (12), 995–1001.
- Zalel, Y., 2015. Non-invasive prenatal testing – it’s all a matter of timing. Ultrasound in Obstetrics & Gynecology: The Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 45 (1), 115–116.
- Zhang, H., et al., 2015. Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies. Ultrasound in Obstetrics & Gynecology: The Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 45 (5), 530–538.