Clinical trial NCT02424474: T21,18 and 13 Screening by Cell Free Fetal DNA in Low Risk Patients
Official title: Fetal Aneuploidies Screening (21,18 and 13) by Cell Free Fetal DNA Analysis. Pilot Study in Low Risk Population and Pregnant Women After in Vitro Fertilisation (IFV)
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Trisomy 21, 18 and 13 Screening
Keywords: cell free fetal DNA
general population
screening
trisomy 21
IVF
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2015-04-23
Enrollment: 933
Sex: FEMALE
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: SCREENING

Brief summary: 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.

Detailed description: 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.

Eligibility criteria: Inclusion Criteria:

* Age \>18
* Singleton pregnancy
* Having a spontaneous pregnancy or obtained by AMP ,
* Having chosen to carry out a screening of the T21 to the first or second trimester of pregnancy ,
* Gestational age \>=10 weeks of amenorrhea
* Consenting to invasive prenatal diagnosis,
* Having health insurance,
* Having signed the informed consent

Exclusion Criteria:

* The Patients whose fetus has an abnormality on the first trimester ultrasound including nuchal translucency \> 3.5mm ,
* Participant to another biomedical research.
* Pregnancy twins including the presence of a twin vanishing

Primary outcomes:
measure: 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
timeFrame: Between the 11th and the 13th week of amenorrhea
Secondary outcomes:
measure: Diagnostic performance measured by positive predictive values (%) of genetic NIPT (Non Invasive Prenatal Testing) in the two populations compared to regular serum screening
timeFrame: Between the 11th and the 13th week of amenorrhea
measure: Diagnostic performance measured by negative predictive values (%) of genetic NIPT (Non Invasive Prenatal Testing) in the two populations compared to regular serum screening
timeFrame: Between the 11th and the 13th week of amenorrhea
Other outcomes:
Locations:
city: Clamart
country: France
facility: AP-HP, Antoine Béclère Hospital
Study officials:
affiliation: AP-HP, Antoine Béclère Hospital
name: Alexandra Benachi, MD, PhDi
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
citation: 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.