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The purpose of this study is to evaluate the performance of non invasive screening in a population of pregnant women with and without in vitro fertilisation (IVF) concomitantly to regular first trimester trisomy 21 (T21) screening using maternal age, nucal fold measurement and serum screening.
All pregnant women in 9 institutions in France will be offer both regular first trimester screening for trisomy 21 (T21) and cell free DNA non invasive (NI) screening test at the same time. Specificity and the positive and negative predictive values of the NI test will be analysed. The population will be divided in women who did and did not get pregnant after an In vitro fertilisation (IVF) procedure.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Genetic NIPT and regular serum screening | Experimental | All woman will be tested using the two tests, genetic NIPT (Non Invasive Prenatal Testing) and regular serum screening. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Genetic NIPT | Device | Both tests are realized in a population of pregnant women (with and without in vitro fertilisation (IVF)) concomitantly at the same time. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Diagnostic performance measured by specificity (%) of genetic Non Invasive Prenatal Testing (NIPT) in the two populations (with and without IVF) compared to regular serum screening | Between the 11th and the 13th week of amenorrhea |
| Measure | Description | Time Frame |
|---|---|---|
| Diagnostic performance measured by positive predictive values (%) of genetic NIPT (Non Invasive Prenatal Testing) in the two populations compared to regular serum screening | positive ad negative predictive values of NIPT in the two populations of woman with and without IVF. | Between the 11th and the 13th week of amenorrhea |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Alexandra Benachi, MD, PhDi | AP-HP, Antoine Béclère Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| AP-HP, Antoine Béclère Hospital | Clamart | 92141 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 30509296 | Derived | Dabi Y, Guterman S, Jani JC, Letourneau A, Demain A, Kleinfinger P, Lohmann L, Costa JM, Benachi A. Autoimmune disorders but not heparin are associated with cell-free fetal DNA test failure. J Transl Med. 2018 Dec 3;16(1):335. doi: 10.1186/s12967-018-1705-2. | |
| 29493578 | Derived | Costa JM, Letourneau A, Favre R, Bidat L, Belaisch-Allart J, Jouannic JM, Quarello E, Senat MV, Broussin B, Tsatsaris V, Demain A, Kleinfinger P, Lohmann L, Agostini H, Bouyer J, Benachi A. Cell-free fetal DNA versus maternal serum screening for trisomy 21 in pregnant women with and without assisted reproduction technology: a prospective interventional study. Genet Med. 2018 Nov;20(11):1346-1353. doi: 10.1038/gim.2018.4. Epub 2018 Mar 1. |
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| ID | Term |
|---|---|
| D004314 | Down Syndrome |
| ID | Term |
|---|---|
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
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| Regular serum screening | Biological |
|
|
| Diagnostic performance measured by negative predictive values (%) of genetic NIPT (Non Invasive Prenatal Testing) in the two populations compared to regular serum screening |
| Between the 11th and the 13th week of amenorrhea |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |