Literature DB >> 15300745

First-trimester screening for trisomy 21 combining biochemistry and ultrasound at individually optimal gestational ages. An interventional study.

Antoni Borrell1, Elena Casals, Albert Fortuny, M Teresa Farre, Anna Gonce, Aurora Sanchez, Anna Soler, Vicençc Cararach, Joan A Vanrell.   

Abstract

OBJECTIVE: To assess the effectiveness of the Combined Test in the prenatal detection of trisomy 21 in the general pregnant population using a new timing for the screening approach.
METHODS: First-trimester maternal serum biochemical markers (pregnancy-associated plasma protein-A and free-beta hCG) were determined in maternal serum at 7 to 12 weeks. Fetal nuchal translucency and gestational age were assessed at the 10- to 14-week ultrasound scan. A combined risk was estimated and delivered to the women the same day. When the risk was 1:250 or above, chorionic villus sampling was offered.
RESULTS: Mean gestational age at biochemistry was 9.4 weeks, being 12.3 at ultrasound. In the 2780 studied pregnancies with a complete follow-up, observed detection rates were 88% (7/8) for trisomy 21 and 75% (3/4) for trisomy 18, with a 3.3% (92/2765) false-positive rate.
CONCLUSION: The Combined Test, assessing biochemistry and ultrasound at individually optimal ages in the first trimester, showed an 88% detection rate for trisomy 21 with a remarkably reduced false-positive rate (3.3%). Copyright 2004 John Wiley and Sons, Ltd.

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Year:  2004        PMID: 15300745     DOI: 10.1002/pd.949

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  9 in total

Review 1.  First Trimester Maternal Serum Screening Using Biochemical Markers PAPP-A and Free β-hCG for Down Syndrome, Patau Syndrome and Edward Syndrome.

Authors:  S Shiefa; M Amargandhi; J Bhupendra; S Moulali; T Kristine
Journal:  Indian J Clin Biochem       Date:  2012-10-12

Review 2.  First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening.

Authors:  S Kate Alldred; Yemisi Takwoingi; Boliang Guo; Mary Pennant; Jonathan J Deeks; James P Neilson; Zarko Alfirevic
Journal:  Cochrane Database Syst Rev       Date:  2017-03-15

3.  Prenatal Diagnosis of Chromosome Abnormalities: A 13-Year Institution Experience.

Authors:  Carmen Comas; Mónica Echevarria; María Ángeles Rodríguez; Ignacio Rodríguez; Bernat Serra; Vincenzo Cirigliano
Journal:  Diagnostics (Basel)       Date:  2012-11-19

4.  The feasibility study of non-invasive fetal trisomy 18 and 21 detection with semiconductor sequencing platform.

Authors:  Young Joo Jeon; Yulin Zhou; Yihan Li; Qiwei Guo; Jinchun Chen; Shengmao Quan; Ahong Zhang; Hailing Zheng; Xingqiang Zhu; Jin Lin; Huan Xu; Ayang Wu; Sin-Gi Park; Byung Chul Kim; Hee Jae Joo; Hongliang Chen; Jong Bhak
Journal:  PLoS One       Date:  2014-10-20       Impact factor: 3.240

5.  Summary of 2185 prenatal invasive procedures in a single center: A retrospective analysis.

Authors:  Hüseyin Çağlayan Özcan; Mete Gürol Uğur; Seyhun Sucu; Aynur Mustafa; Neslihan Bayramoğlu Tepe; Özcan Balat
Journal:  Turk J Obstet Gynecol       Date:  2017-06-15

6.  Prenatal Screening Markers for Down Syndrome: Sensitivity, Specificity, Positive and Negative Expected Value Method.

Authors:  Jasmina Durković; Milan Ubavić; Milica Durković; Tibor Kis
Journal:  J Med Biochem       Date:  2018-01-01       Impact factor: 3.402

7.  Diagnostic accuracy of first-trimester combined screening for early-onset and preterm pre-eclampsia at 8-10 compared with 11-13 weeks' gestation.

Authors:  M Mendoza; P Garcia-Manau; S Arévalo; M Avilés; B Serrano; M Á Sánchez-Durán; I Garcia-Ruiz; E Bonacina; E Carreras
Journal:  Ultrasound Obstet Gynecol       Date:  2021-01       Impact factor: 7.299

8.  Noninvasive screening tools for Down syndrome: a review.

Authors:  Meagan Smith; Jeannie Visootsak
Journal:  Int J Womens Health       Date:  2013-03-06

Review 9.  Beyond Trisomy 21: Additional Chromosomal Anomalies Detected through Routine Aneuploidy Screening.

Authors:  Amy Metcalfe; Catriona Hippman; Melanie Pastuck; Jo-Ann Johnson
Journal:  J Clin Med       Date:  2014-04-08       Impact factor: 4.241

  9 in total

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