Literature DB >> 17290444

Aneuploidy screening in the first trimester.

Kevin Spencer1.   

Abstract

This article reviews the performance of first trimester screening for chromosomal anomalies using various combinations of ultrasound and maternal serum biochemical modalities. Detection rates in excess of 90% can be routinely achieved for Trisomy 21, Trisomy 13, Trisomy 18 using a combination of fetal nuchal translucency (NT) thickness and maternal serum free ss-hCG and PAPP-A at 11 + 0 to 13 + 6 weeks of gestation. (c) 2007 Wiley-Liss, Inc.

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Year:  2007        PMID: 17290444     DOI: 10.1002/ajmg.c.30119

Source DB:  PubMed          Journal:  Am J Med Genet C Semin Med Genet        ISSN: 1552-4868            Impact factor:   3.908


  5 in total

1.  Trisomy 18 syndrome: Towards a balanced approach.

Authors:  Hassan Batees; Khalid A Altirkawi
Journal:  Sudan J Paediatr       Date:  2014

Review 2.  Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.

Authors:  Angela E Lin; Craig T Basson; Elizabeth Goldmuntz; Pilar L Magoulas; Deborah A McDermott; Donna M McDonald-McGinn; Elspeth McPherson; Colleen A Morris; Jacqueline Noonan; Catherine Nowak; Mary Ella Pierpont; Reed E Pyeritz; Alan F Rope; Elaine Zackai; Barbara R Pober
Journal:  Genet Med       Date:  2008-07       Impact factor: 8.822

3.  Quantitative proteomics analysis of maternal plasma in Down syndrome pregnancies using isobaric tagging reagent (iTRAQ).

Authors:  Varaprasad Kolla; Paul Jenö; Suzette Moes; Sevgi Tercanli; Olav Lapaire; Mahesh Choolani; Sinuhe Hahn
Journal:  J Biomed Biotechnol       Date:  2009-11-05

4.  First trimester diagnosis and screening for fetal aneuploidy.

Authors:  Deborah A Driscoll; Susan J Gross
Journal:  Genet Med       Date:  2008-01       Impact factor: 8.822

Review 5.  Applications of Genome Editing Technology in Research on Chromosome Aneuploidy Disorders.

Authors:  Silvia Natsuko Akutsu; Kazumasa Fujita; Keita Tomioka; Tatsuo Miyamoto; Shinya Matsuura
Journal:  Cells       Date:  2020-01-17       Impact factor: 6.600

  5 in total

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