Correlation between maternal serum biochemical markers with karyotyping for prenatal screening of foetal chromosomal abnormalities
DOI:
https://doi.org/10.18203/2320-1770.ijrcog20174631Keywords:
Chromosomal abnormalities, Correlation, Diagnostic accuracy, Dual marker test, Quadruple marker test, Sensitivity, Specificity, Triple marker testAbstract
Background: Prenatal screening for chromosomal abnormalities can be done by biochemical screening tests like dual marker test (DMT), triple marker test (TMT) and quadruple marker test (QMT). It is important to identify ideal screening test among them which best correlates with result of karyotyping which is confirmatory test of foetal chromosomal abnormalities. This helps to decrease need for invasive prenatal tests for foetal karyotyping. This study aims to evaluate sensitivity, specificity, diagnostic accuracy and correlation of DMT, TMT, and QMT with results of karyotyping.
Methods: Retrospective observational study was conducted in tertiary care maternity hospital over one year- 1st January 2015 to 31st December 2015. Women with singleton pregnancy undergoing DMT, TMT or QMT were included.
Results: Of the 529 women screened by biochemical marker tests, 462 (87.33%) were screen negative and 67 (12.66%) women were screen positive. In 56 women, it was false positive (83.58%) and in 11 women true positive (16.41%). In 461 women the test results were true negative (99.78%), but in one case, result was false negative (0.21%). 3/11 (27.27%)women with foetal chromosomal abnormalities were primigravidae. 4/11 (36.36%)women were below 35 years. DMT and QMT had higher sensitivity (both 100%) and specificity (90.00% and 93.18% respectively) than TMT (sensitivity 80% and specificity 82.61%). Positive likelihood ratio (LR+) was 1.00 in DMT. Diagnostic odds ratio was highest with DMT (DOR=115.11) and best correlated with karyotyping results (coefficient of correlation 0.4).
Conclusions: Universal screening of antenatal women, irrespective of their age and parity is suggested. DMT has highest diagnostic value and best correlation with the results of karyotyping. Hence the dual marker test can be considered to be better test for screening for aneuploidy.
References
Avătăjitei MC, Moscalu M, Martiniuc V, Onofriescu M. Performance of different methods of estimating risk screening for chromosomal anomalies.Rev Med Chir Soc Med Nat Iasi. 2012 Apr-Jun;116(2):515-22.
Kjaergaard S, Hahnemann JM, Skibsted L, Jensen LN, Sperling L, Zingenberg H et al. Prenatal diagnosis of chromosome aberrations after implementation of screening for Down's syndrome Ugeskr Laeger. 2008 Mar;170(14):1152-6.
Ekelund CK, Jørgensen FS, Petersen OB, Sundberg K, Tabor A. Impact of a new national screening policy for Down’s syndrome in Denmark: population based cohort study. BMJ. 2008;337:a2547.
Haddow JE, Palomaki GE, Knight GJ, Cunningham GC, Lustig LS, Boyd PA. Reducing the need for amniocentesis in women 35 years of age or older with serum markers for screening. N Engl J Med. 1994 Apr;330(16):1114-8.
Summers AM, Langlois S, Wyatt P, Wilson RD. Prenatal screening for fetal aneuploidy. J Obstet Gynecol Can. 2007 Feb;29(2):146-79.
Alldred SK, Takwoingi Y, Guo B, Pennant M, Deeks JJ, Neilson JP, Alfirevic Z. First trimester serum tests for Down's syndrome screening. Cochrane Database Syst Rev. 2015;(11):CD011975.
Wald NJ, Kennard A, Hackshaw AK. First trimester serum screening for Down's syndrome. Prenat Diagn. 1995 Dec;15(13):1227-40.
Huderer-Duric K, Skrablin S, Kuvacic I, Sonicki Z, Rubala D, Suchanek E. The triple-marker test in predicting fetal aneuploidy: a compromise between sensitivity and specificity. Eur J Obstet Gynecol Reprod Biol. 2000 Jan;88(1):49-55.
Alldred SK, Deeks JJ, Guo B, Neilson JP, Alfirevic Z. Second trimester serum tests for Down's Syndrome screening. Cochrane Database Syst Rev. 2012 Jun 13;(6):CD009925.
Wald NJ, Kennard A. Prenatal biochemical screening for Down's syndrome and neural tube defects. Curr Opin Obstet Gynecol. 1992 Apr;4(2):302-7.
McDuffie RS Jr, Haverkamp AD, Stark CF, Haverkamp C, Barth CK. Prenatal screening using maternal serum alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol: two-year experience in a healthmaintenance organization. J Matern Fetal Med. 1996 Mar-Apr;5(2):70-3.
Šimundić A-M. Measures of Diagnostic Accuracy: Basic Definitions. EJIFCC. 2009;19(4):203-211.
Glas AS, Lijmer JG, Prins MH, Bonsel GJ, Bossuyt PM. The diagnostic odds ratio: a single indicator of test performance. J Clin Epidemiol. 2003 Nov;56(11):1129-35.
Littenberg B, Moses LE. Estimating diagnostic accuracy from multiple conflicting reports: a new meta-analytic method. Med Decis Making. 1993 Oct-Dec;13(4):313-21.
Moses LE, Shapiro D Littenberg B. Combining independent studies of a diagnostic test into a summary ROC curve: Data-analytic approaches and some additional considerations. Statistics Medicine. 1993;12 14):1293-316.
