Literature DB >> 16949423

Is there a nuchal translucency millimeter measurement above which there is no added benefit from first trimester serum screening?

Christine H Comstock1, Fergal D Malone, Robert H Ball, David A Nyberg, George R Saade, Richard L Berkowitz, Jose Ferreira, Lorraine Dugoff, Sabrina D Craigo, Ilan E Timor-Tritsch, Stephen R Carr, Honor M Wolfe, Diana W Bianchi, Mary E D'Alton.   

Abstract

OBJECTIVE: The purpose of this study was to evaluate whether there is a nuchal translucency (NT) measurement, independent of gestational age, above which immediate diagnostic testing should be offered without waiting for first trimester serum markers. STUDY
DESIGN: Thirty-six thousand one hundred twenty patients had successful measurement of simple NT at 10 3/7 to 13 6/7 weeks and had first trimester serum screening. No risks were reported until second trimester serum screening was completed.
RESULTS: Thirty-two patients (0.09%) had NT > or = 4.0 mm; the lowest combined first trimester trisomy 21 risk assessment in euploid cases was 1 in 8 and among aneuploidy cases was 7 in 8. One hundred twenty-eight patients (0.3%) had simple NT > or = 3.0 mm: the lowest combined first trimester trisomy 21 risk assessment of any patient in this group was 1 in 1479 and the lowest risk assessment among aneuploid cases was 1 in 2. Ten patients (8%) had first trimester trisomy 21 risk assessments lowered to less that 1:200 and none of these 10 cases had an abnormal outcome.
CONCLUSION: During first trimester Down syndrome screening, whenever an NT measurement of 3.0 mm or greater is obtained there is minimal benefit in waiting for serum screening results, and no benefit for NT of 4.0 mm or greater. Differentiation between cystic hygroma and enlarged simple NT (> or = 3.0 mm) is now a moot point as both are sufficiently high risk situations to warrant immediate CVS.

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Year:  2006        PMID: 16949423     DOI: 10.1016/j.ajog.2006.06.006

Source DB:  PubMed          Journal:  Am J Obstet Gynecol        ISSN: 0002-9378            Impact factor:   8.661


  9 in total

Review 1.  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

Review 2.  First and second trimester serum tests with and without first trimester ultrasound 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.  Prognostic value of a simplified anatomically based nomenclature for fetal nuchal lymphatic anomalies.

Authors:  Beck Longstreet; Karthik Balakrishnan; Babette Saltzman; Jonathan A Perkins; Manjiri Dighe
Journal:  Otolaryngol Head Neck Surg       Date:  2014-11-19       Impact factor: 3.497

Review 4.  Second trimester serum tests for Down's Syndrome screening.

Authors:  S Kate Alldred; Jonathan J Deeks; Boliang Guo; James P Neilson; Zarko Alfirevic
Journal:  Cochrane Database Syst Rev       Date:  2012-06-13

Review 5.  Have we done our last amniocentesis? Updates on cell-free DNA for Down syndrome screening.

Authors:  Kathryn J Gray; Louise E Wilkins-Haug
Journal:  Pediatr Radiol       Date:  2018-03-17

6.  NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy.

Authors:  K L Wilson; J L Czerwinski; J M Hoskovec; S J Noblin; C M Sullivan; A Harbison; M W Campion; K Devary; P Devers; C N Singletary
Journal:  J Genet Couns       Date:  2012-11-22       Impact factor: 2.537

Review 7.  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:  2015-11-30

Review 8.  Urine tests for Down's syndrome screening.

Authors:  S Kate Alldred; Boliang Guo; Yemisi Takwoingi; Mary Pennant; Susanna Wisniewski; Jonathan J Deeks; James P Neilson; Zarko Alfirevic
Journal:  Cochrane Database Syst Rev       Date:  2015-12-10

9.  Screening for fetal aneuploidy and neural tube defects.

Authors:  Deborah A Driscoll; Susan J Gross
Journal:  Genet Med       Date:  2009-11       Impact factor: 8.822

  9 in total

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