Non-Invasive Prenatal Testing
|Embryology - 27 Mar 2017 Expand to Translate|
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|Educational Use Only - Embryology is an educational resource for learning concepts in embryological development, no clinical information is provided and content should not be used for any other purpose.|
Non-Invasive Prenatal Testing (NIPT) include new techniques that analyzes cell-free fetal DNA circulating in maternal blood or from fetal cells in the cervical canal.
Testing of circulating cell-free fetal DNA (ccffDNA) can be carried out after 10 weeks (between 10-22 weeks) analysis can take a week or more. It has been most useful for replacing amniocentesis in testing for the trisomies; Trisomy 21, Trisomy 18, and Trisomy 13.
There are other pages that refer to postnatal diagnostic testing. (More? Neonatal Diagnosis)
- This Embryology site is a developmental educational resource, it does not provide specific clinical details, you should always refer to a health professional.
Assisted Reproductive Technology | In Vitro Fertilization | Journal - Prenatal diagnosis
Some Recent Findings
|More recent papers|
This table shows an automated computer PubMed search using the listed sub-heading term.
References listed on the rest of the content page and the associated discussion page (listed under the publication year sub-headings) do include some editorial selection based upon both relevance and availability.
Rosemary E Reiss, Marie Discenza, Judith Foster, Lori Dobson, Louise Wilkins-Haug Sex Chromosome Aneuploidy Detection by Non-Invasive Prenatal Testing: Helpful or Hazardous? Prenat. Diagn.: 2017; PubMed 28326560
Tianjiao Chu, Patricia A Shaw, Suveyda Yeniterzi, Mary Dunkel, Aleksander Rajkovic, W Allen Hogge, Kimberly D Bunce, David G Peters Comparative evaluation of the Minimally-Invasive Karyotyping (MINK) algorithm for non-invasive prenatal testing. PLoS ONE: 2017, 12(3);e0171882 PubMed 28306738
Kang Li, Yaou Duan, Magdalene Yin Lin Ting, Zhiying Ou, Li Liu, Kang Zhang, Xin Fu Future Science Prize goes to non-invasive prenatal testing. Sci China Life Sci: 2017; PubMed 28299578
Tsz-Kin Lo, Kelvin Yuen-Kwong Chan, Anita Sik-Yau Kan, Po-Lam So, Choi-Wah Kong, Shui-Lam Mak, Chung-Nin Lee Study of the extent of information desired by women undergoing non-invasive prenatal testing following positive prenatal Down-syndrome screening test results. Int J Gynaecol Obstet: 2017; PubMed 28295291
G de Graaf, J J M Engelen, A C J Gijsbers, R Hochstenbach, M J V Hoffer, A J A Kooper, B Sikkema-Raddatz, M I Srebniak, A M F van der Kevie-Kersemaekers, L J C M van Zutven, E Voorhoeve Estimates of live birth prevalence of children with Down syndrome in the period 1991-2015 in the Netherlands. J Intellect Disabil Res: 2017; PubMed 28261902
A recent 2014 Canadian study identified the cost of NIPT ranges from US$800 to US$2000 in the USA and from US$500 to US$1500 elsewhere.
A recent publication from NHMRC Medical Genetic Testing: information for health professionals (2010). This paper covers background information on all types of genetic tests, not just those associated with prenatal diagnosis.
Types of genetic tests
- Somatic cell genetic testing involves testing tissue (usually cancer) for non-heritable mutations. This may be for diagnostic purposes, or to assist in selecting treatment for a known cancer.
- Diagnostic testing for heritable mutations involves testing an affected person to identify the underlying mutation(s) responsible for the disease. This typically involves testing one or more genes for a heritable mutation.
- Predictive testing for heritable mutations involves testing an unaffected person for a germline mutation identified in genetic relatives. The risk of disease will vary according to the gene, the mutation and the family history.
- Carrier testing for heritable mutations involves testing for the presence of a mutation that does not place the person at increased risk of developing the disease, but does increase the risk of having an affected child developing the disease.
- Pharmacogenetic testing for a genetic variant that alters the way a drug is metabolised. These variants can involve somatic cells or germline changes. Even if these variants are heritable (that is germline changes), the tests are usually of relevance to genetic relatives only if they are being treated with the same type of medication.
A new site developed by NIH "GeneTests" provides medical genetics information resources available at no cost to all interested persons. It contains educational information, a directory of genetic testing laboratories and links to other databases such as OMIM.
Ethics of Testing
Major developmental abnormalities detected early enough can be resolved far more easily than those discovered late in a pregnancy.
What are the ethical questions that are raised by prenatal testing? Future individual rights or parents rights? But what about diseases, like Huntington's, where a diagnostic test can be made but there are no current treatments for the postnatal (95% of cases adult onset) disease?
Guidelines for the molecular genetics predictive test
- Recommendation 2.1 "the test is available only to individuals who have reached the age of majority."
- Recommendation 7.2 "the couple requesting antenatal testing must be clearly informed that if they intend to complete the pregnancy if the fetus is a carrier of the gene defect, there is no valid reason for performing the test."
- Links: YouTube
- Ron M McCullough, Eyad A Almasri, Xiaojun Guan, Jennifer A Geis, Susan C Hicks, Amin R Mazloom, Cosmin Deciu, Paul Oeth, Allan T Bombard, Bill Paxton, Nilesh Dharajiya, Juan-Sebastian Saldivar Non-invasive prenatal chromosomal aneuploidy testing - clinical experience: 100,000 clinical samples. PLoS ONE: 2014, 9(10);e109173 PubMed 25289665
- Chandni V Jain, Leena Kadam, Marie van Dijk, Hamid-Reza Kohan-Ghadr, Brian A Kilburn, Craig Hartman, Vicki Mazzorana, Allerdien Visser, Michael Hertz, Alan D Bolnick, Rani Fritz, D Randall Armant, Sascha Drewlo Fetal genome profiling at 5 weeks of gestation after noninvasive isolation of trophoblast cells from the endocervical canal. Sci Transl Med: 2016, 8(363);363re4 PubMed 27807286
- Lyn S Chitty, David Wright, Melissa Hill, Talitha I Verhoef, Rebecca Daley, Celine Lewis, Sarah Mason, Fiona McKay, Lucy Jenkins, Abigail Howarth, Louise Cameron, Alec McEwan, Jane Fisher, Mark Kroese, Stephen Morris Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down's syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units. BMJ: 2016, 354;i3426 PubMed 27378786
- Patricia A Taneja, Tracy L Prosen, Eileen de Feo, Kristina M Kruglyak, Meredith Halks-Miller, Kirsten J Curnow, Sucheta Bhatt Fetal aneuploidy screening with cell-free DNA in late gestation. J. Matern. Fetal. Neonatal. Med.: 2016;1-5 PubMed 27124739
- Peter Johansen, Stine R Richter, Marie Balslev-Harder, Caroline B Miltoft, Ann Tabor, Morten Duno, Susanne Kjaergaard Open source non-invasive prenatal testing platform and its performance in a public health laboratory. Prenat. Diagn.: 2016; PubMed 27027563
- Peter Benn, Kirsten J Curnow, Steven Chapman, Steven N Michalopoulos, John Hornberger, Matthew Rabinowitz An Economic Analysis of Cell-Free DNA Non-Invasive Prenatal Testing in the US General Pregnancy Population. PLoS ONE: 2015, 10(7);e0132313 PubMed 26158465 | PLoS One.
- Lyn S Chitty, Kirstin Finning, Angela Wade, Peter Soothill, Bill Martin, Kerry Oxenford, Geoff Daniels, Edwin Massey Diagnostic accuracy of routine antenatal determination of fetal RHD status across gestation: population based cohort study. BMJ: 2014, 349;g5243 PubMed 25190055 | BMJ.
- Errol R Norwitz, Brynn Levy Noninvasive prenatal testing: the future is now. Rev Obstet Gynecol: 2013, 6(2);48-62 PubMed 24466384
- Jacob O Kitzman, Matthew W Snyder, Mario Ventura, Alexandra P Lewis, Ruolan Qiu, Lavone E Simmons, Hilary S Gammill, Craig E Rubens, Donna A Santillan, Jeffrey C Murray, Holly K Tabor, Michael J Bamshad, Evan E Eichler, Jay Shendure Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med: 2012, 4(137);137ra76 PubMed 22674554
- Xin Guo, Philip Bayliss, Marian Damewood, John Varney, Emily Ma, Brett Vallecillo, Ravinder Dhallan A noninvasive test to determine paternity in pregnancy. N. Engl. J. Med.: 2012, 366(18);1743-5 PubMed 22551147
Jean Gekas, Sylvie Langlois, Vardit Ravitsky, François Audibert, David Gradus van den Berg, Hazar Haidar, François Rousseau Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues. Appl Clin Genet: 2016, 9;15-26 PubMed 26893576
Heather Skirton, Lesley Goldsmith, Leigh Jackson, Celine Lewis, Lyn S Chitty Non-invasive prenatal testing for aneuploidy: a systematic review of Internet advertising to potential users by commercial companies and private health providers. Prenat. Diagn.: 2015; PubMed 26266986
Megan Allyse, Mollie A Minear, Elisa Berson, Shilpa Sridhar, Margaret Rote, Anthony Hung, Subhashini Chandrasekharan Non-invasive prenatal testing: a review of international implementation and challenges. Int J Womens Health: 2015, 7;113-26 PubMed 25653560
Peter Benn Non-Invasive Prenatal Testing Using Cell Free DNA in Maternal Plasma: Recent Developments and Future Prospects. J Clin Med: 2014, 3(2);537-65 PubMed 26237390
Diane Van Opstal, Malgorzata I Srebniak Cytogenetic confirmation of a positive NIPT result: evidence-based choice between chorionic villus sampling and amniocentesis depending on chromosome aberration. Expert Rev. Mol. Diagn.: 2016; PubMed 26864482
Genevieve Fairbrother, John Burigo, Thomas Sharon, Ken Song Prenatal screening for fetal aneuploidies with cell-free DNA in the general pregnancy population: a cost-effectiveness analysis. J. Matern. Fetal. Neonatal. Med.: 2015;1-5 PubMed 26000626
Roy Straver, Cees B M Oudejans, Erik A Sistermans, Marcel J T Reinders Calculating the fetal fraction for Non Invasive Prenatal Testing based on Genome-wide nucleosome profiles. Prenat. Diagn.: 2016; PubMed 26996738
T Ohnhaeuser, D Schmitz Non-invasive Prenatal Testing (NIPT): Better Meet an Expert!: The Case of a Late Detected Trisomy 13 Reveals Structural Problems in NIPT Counselling and Highlights Substantial Risks for the Reproductive Autonomy. Geburtshilfe Frauenheilkd: 2016, 76(3);277-279 PubMed 27064737
Lucie Orhant, Olivia Anselem, Mélanie Fradin, Pierre Hadrien Becker, Caroline Beugnet, Nathalie Deburgrave, Gilles Tafuri, Franck Letourneur, François Goffinet, Laïla Allach El Khattabi, France Leturcq, Thierry Bienvenu, Vassilis Tsatsaris, Juliette Nectoux Droplet Digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia. Prenat. Diagn.: 2016; PubMed 26850935
Emily C Higuchi, Jane P Sheldon, Brian J Zikmund-Fisher, Beverly M Yashar Non-invasive prenatal screening for trisomy 21: Consumers' perspectives. Am. J. Med. Genet. A: 2015; PubMed 26553705
Search Pubmed: Non-Invasive Prenatal Testing
- ART - Assisted Reproductive Technology a general term to describe all the clinical techniques used to aid fertility.
- blastomere biopsy - An ART preimplantation genetic diagnosis technique carried out at cleavage stage (day 3), excluding poor quality embryos, detects chromosomal abnormalities of both maternal and paternal origin. May not detect cellular mosaicism in the embryo.
- blastocyst biopsy - An ART preimplantation genetic diagnosis technique carried out at blastocyst stage (day 4-5), removes several trophoblast (trophoderm) cells, detects chromosomal abnormalities of both maternal and paternal origin and may detect cellular mosaicism.
- cell-free fetal deoxyribonucleic acid - (cffDNA) refers to fetal DNA circulating and isolated from the plasma portion of maternal blood.
- false negative rate - The proportion of pregnancies that will test negative given that the congenital anomaly is present.
- false positive rate - The proportion of pregnancies that will test positive given that the congenital anomaly is absent.
- negative predictive value - The probability that a congenital anomaly is absent given that the prenatal screening test is negative.
- Non-Invasive Prenatal Testing - (NIPT) could refer to ultrasound or other imaging techniques, but more frequently used to describe analysis of cell-free fetal DNA circulating in maternal blood.
- polar body biopsy - (PB biopsy) An ART preimplantation genetic diagnosis technique that removes either the first or second polar body from the zygote. As these are generated by oocyte meiosis they detects chromosomal abnormalities only on the female genetics.
- positive predictive value - The probability that a congenital anomaly is present given that the prenatal screening test is positive.
- pre-implantation genetic diagnosis - (PGD, pre-implantation genetic screening) a diagnostic procedure for embryos produced through Assisted Reproductive Technology (ART, in vitro fertilisation, IVF) for genetic diseases that would generate developmental abnormalities or serious postnatal diseases.
- prenatal screening sensitivity - (detection rate) The probability of testing positive on a prenatal screening test if the congenital anomaly is present.
- prenatal screening specificity - The probability of testing negative on a prenatal screening test if the congenital anomaly is absent.
- single nucleotide polymorphisms - (SNPs) the variation in a single DNA nucleotide that occurs at a specific position in the genome.
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Cite this page: Hill, M.A. 2017 Embryology Non-Invasive Prenatal Testing. Retrieved March 27, 2017, from https://embryology.med.unsw.edu.au/embryology/index.php/Non-Invasive_Prenatal_Testing
- © Dr Mark Hill 2017, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G