Microarray analysis: First‐trimester maternal serum free β‐hCG and the risk of significant copy number variants. (21st September 2018)

• Record Type: Journal Article
• Authors: Bornstein, Eran; Gulersen, Moti; Krantz, David; Cheung, Sau W.; Maliszewski, Kristen; Divon, Michael Y.
• Is Part Of: Prenatal diagnosis. Volume 38:Number 12(2018)
• Page Start: 971
• Page End: 978
• Publication Date: 2018-09-21
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.5350
• Languages: English
• ISSNs: 0197-3851

Abstract

Abstract: Objective: To determine whether abnormal levels of first‐trimester maternal serum free β‐hCG and PAPP‐A are associated with significant copy number variants (CNVs) on chromosomal microarray analysis (CMA). Methods: Retrospective cohort of singleton prenatal CMA studies (n = 2880). Cases with an abnormal karyotype, benign familial or de novo variants, and absence of heterozygosity were excluded. The prevalence of abnormal serum analytes was compared between patients with significant CNVs (n = 56) and those with normal CMA (n = 884). Odds ratios (ORs) and 95% confidence intervals (CI) were calculated using Fisher's exact test. Mantel‐Haenszel method was utilized to adjust ORs for prenatal diagnostic procedure type and indications for testing. Statistical significance was determined as P value < 0.05. Results: Abnormally low serum free β‐hCG (≤0.45 MoM) was associated with an increased risk of significant CNVs (OR 3.53, 95% CI, 1.25‐8.66, P < 0.01). This association remained significant after adjusting for abnormal nuchal translucency and advanced maternal age (AMA) (adjusted OR 3.04, 95% CI, 1.05‐7.48, P < 0.05) or procedure type and AMA (adjusted OR 3.21, 95% CI 1.13–8.16, P < 0.05). The associations of abnormally high serum free β‐hCG, low PAPP‐A, and high PAPP‐A with significant CNVs were not statistically significant. Conclusion: Low first‐trimester serum β‐hCG is associated with an increased risk of significant CNVs on CMA. Abstract : What's already known about this topic? Abnormal levels of first‐trimester maternal serum free β‐hCG and PAPP‐A are associated with an increased risk of fetal aneuploidy. Fetal structural malformations and abnormal nuchal translucency are associated with an increased risk of significant copy number variants (CNVs) on microarray analysis. What does this study add? Abnormally low levels of first‐trimester maternal serum free β‐hCG is associated with an increased risk of significant CNVs on microarray analysis.