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Grand Rounds

Can NT Values be Used as an Indication for Prenatal Microarray Analysis?

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BACKGROUND AND PURPOSE: 

  • A correlation exists between nuchal translucency (NT) measurement and abnormal findings on chromosomal microarray analysis 
  • 3.5 mm NT measurement is currently used in many guidelines as the cut-off for further follow up studies even if found in isolation   
  • Maya et al. (Ultrasound in Obstetrics & Gynecology, 2017) assessed different NT cut-off levels and their association with abnormal chromosomal findings on microarray

METHODS: 

  • Retrospective, multicenter study  
  • Pregnancies were divided in two cohorts: 
    • Normal NT and no other findings (underwent microarray testing at their own request) 
    • Increased NT as only indication for microarray analysis 
    • To reduce bias, cases with positive aneuploidy risk based on combined first trimester screening (NT + maternal serum markers) were excluded  
  • NT measurements were divided into three groups: 
    • ≤ 2.9 mm 
    • 3.0–3.4 mm  
    • ≥ 3.5 mm 
  • Primary outcome was chromosomal anomalies (pathogenic copy number variants [CNVs]) detected using microarray 

RESULTS: 

  • 770 pregnancies with increased NT and no other findings were analyzed 
    • 462 had NT ≤ 2.9 mm: abnormal microarray in 1.7%; 50% only detectable with microarray  
    • 170 had NT of 3.0-3.4 mm: abnormal microarray in 6.5%; 27% only detectable with microarray  
    • and 138 had NT ≥ 3.5 mm: abnormal microarray in 13.8%; 16% only detectable with microarray 

CONCLUSION: 

  • CMA should be recommended when fetuses have an isolated NT thickness of ≥ 3.0 mm 

Learn More – Primary Sources:  

Cut-off value of nuchal translucency as indication for chromosomal microarray analysis

 

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Related ObG Topics:

NIPS vs. Microarray for Pathogenic Results
Should Amniocentesis or Chorionic Villus Sampling Be Offered to All Pregnant Women?
SMFM Guidance – The Role of Prenatal Ultrasound and NIPT 
Practical obstetrics info for your women's healthcare practice
Nuchal Translucency – First Trimester Measurement
How Common is Noonan Syndrome When the NT is Large but Chromosomes Appear Normal?

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