First-trimester screening based on cell-free DNA vs combined screening: A randomized clinical trial on women's experience.
Journal
Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540
Informations de publication
Date de publication:
10 2020
10 2020
Historique:
received:
14
05
2020
revised:
12
07
2020
accepted:
14
07
2020
pubmed:
20
7
2020
medline:
21
10
2021
entrez:
20
7
2020
Statut:
ppublish
Résumé
To compare women's experience of first-trimester combined screening (FTCS), with women's experience of an approach that uses the combination of a detailed early anatomy scan and cell-free DNA (cfDNA) analysis. This was single-center, open label, parallel group, randomized clinical trial. Pregnant women were randomized at the time of their first prenatal visit to either a policy of first-trimester risk assessment based on FTCS, or to a policy of first-trimester risk assessment based on ultrasound findings and cfDNA. FTCS included ultrasound evaluation with crown-rump length, nuchal translucency (NT) measurement, and a detailed ultrasound scan, along with biochemistry (PAPP-A and free beta hCG). In this group, invasive diagnostic testing was offered to patients with risk >1 in 100, or NT >3.5 mm, or any fetal abnormalities on ultrasound. Women randomized in the intervention group received an approach of first-trimester risk assessment based on ultrasound findings and cfDNA. cfDNA analysis included a simultaneous microarray-based assay of non-polymorphic (chromosomes 13, 18, 21, X and Y) and polymorphic loci to estimate chromosome proportion and fetal fraction. In the intervention group, invasive diagnostic testing was offered to patients with abnormal cfDNA screening results, or NT >3.5 mm, or any fetal abnormalities on ultrasound. Participants received pre-test and post-test questionnaires regarding to measure reassurance, satisfaction, and anxiety. The primary outcome was the post-test reassurance, defined as mean score of reassurance post-test questionnaire. The effect of the assigned screening test on the mean of each outcome was quantified as mean difference (MD) with 95% confidence interval (CI). Forty women with singleton gestations were enrolled in the trial. Mean score for reassurance was significantly higher in the cfDNA group compared to the FTCS group in the pre-test questionnaire (MD 0.80 points, 95% CI 0.27 to 1.33) and in the post-test questionnaire (MD 16.50 points, 95% CI 2.18 to 30.82). Women randomized to the cfDNA group had higher satisfaction and lower mean anxiety score as assessed in the STAI pre-test questionnaire. First-trimester risk assessment for fetal aneuploidy with a combination of a detailed ultrasound examination and cfDNA is associated with better maternal reassurance and better maternal satisfaction compared to the standard first-trimester combined screening with nuchal translucency, and biochemistry. Clinicaltrials.gov NCT04077060.
Substances chimiques
Cell-Free Nucleic Acids
0
Banques de données
ClinicalTrials.gov
['NCT04077060']
Types de publication
Comparative Study
Journal Article
Randomized Controlled Trial
Langues
eng
Sous-ensembles de citation
IM
Pagination
1482-1488Informations de copyright
© 2020 John Wiley & Sons Ltd.
Références
Gil MM, Revello R, Poon LC, Akolekar R, Nicolaides KH. Clinical implementation of routine screening for fetal trisomies in the UKNHS: cell-free DNA test contingent on results from first-trimester combined test. Ultrasound Obstet Gynecol. 2016;47(1):45-52.
Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2019;53(6):734-742.
García-Pérez L, Linertová R, Álvarez-de-la-Rosa M, et al. Cost-effectiveness of cell-free DNA in maternal blood testing for prenatal detection of trisomy 21, 18 and 13: a systematic review. Eur J Health Econ. 2018;19(7):979-991.
Nicolaides KH. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol. 2004;191(1):45-67.
Kagan KO, Sroka F, Sonek J, et al. First-trimester risk assessment based on ultrasound and cell-free DNA vs combined screening: a randomized controlled trial. Ultrasound Obstet Gynecol. 2018;51(4):437-444.
Mancuso RA, Schetter CD, Rini CM, Roesch SC, Hobel CJ. Maternal prenatal anxiety and corticotropin-releasing hormone associated with timing of delivery. Psychosom Med. 2004;66(5):762-769.
NakićRadoš S, Košec V, Gall V. The psychological effects of prenatal diagnostic procedures: maternal anxiety before and after invasive and noninvasive procedures. Prenat Diagn. 2013;33(12):1194-1200.
Wright D, Syngelaki A, Bradbury I, Akolekar R, Nicolaides KH. First-trimester screening for trisomies 21, 18 and 13 by ultrasound and biochemical testing. Fetal Diagn Ther. 2014;35(2):118-126.
Akolekar R, Beta J, Picciarelli G, Ogilvie C, D'Antonio F. Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2015;45(1):16-26.
van Schendel RV, Kater-Kuipers A, van Vliet-Lachotzki EH, Dondorp WJ, Cornel MC, Henneman L. What do parents of children with Down syndrome think about non-invasive prenatal testing (NIPT)? J Genet Couns. 2017;26(3):522-553.
Marteau TM, Bekker H. The development of a six-item short-form of the state scale of the Spielberger state-trait anxiety inventory (STAI). Br J Clin Psychol. 1992;31(3):301-306.
Huizink AC, Mulder EJ, Robles de Medina PG, Visser GH, Buitelaar JK. Is pregnancy anxiety a distinctive syndrome? Early Hum Dev. 2004;79(2):81-91.
Huizink AC, Delforterie MJ, Scheinin NM, Tolvanen M, Karlsson L, Karlsson H. Adaption of pregnancy anxiety questionnaire-revised for all pregnant women regardless of parity: PRAQ-R2. Arch Womens Ment Health. 2016;19(1):125-123.
Seror V, L'Haridon O, Bussières L, et al. SAFE 21 Study Group. Women's attitudes toward invasive and noninvasive testing when facing a high risk of fetal Down syndrome. JAMA Netw Open. 2019;2(3):e191062.
van Schendel RV, Page-Christiaens GCML, Beulen L, et al. Women's experience with non-invasive prenatal testing and emotional well-being and satisfaction after test-results. J Genet Couns. 2017;26(6):1348-1356. https://doi.org/10.1007/s10897-017-0118-3.
Mastantuoni E, Saccone G, Al-Kouatly HB, et al. Expanded carrier screening: a current perspective. Eur J Obstet Gynecol Reprod Biol. 2018;230:41-54.
Spencer K, Nicolaides KH. Screening for trisomy 21 in twins using first trimester ultrasound and maternal serum biochemistry in a one-stop clinic: a review of three years experience. BJOG. 2003;110(3):276-280.
Nicolaides KH, Sebire NJ, Snijders RJ. Down's syndrome screening with nuchal translucency. Lancet. 1997;349(9049):438.
Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides KH. UKmulticentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation. Fetal Medicine Foundation First Trimester Screening Group Lancet. 1998;352(9125):343-346.
Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2017 Sep;50(3):302-314.
Benn P, Curnow KJ, Chapman S, Michalopoulos SN, Hornberger J, Rabinowitz M. An economic analysis of cell-free DNA non-invasive prenatal testing in the US general pregnancy population. PLoS One. 2015;10(7):e0132313.