Fama TOKER, Bulat Aytek ŞIK, Yılda Arzu ABA

Efficacy of Genetic Sonogram For Predicting Aneuploidy In a High-Risk Pregnancy Population

AİM: This study evaluates the efficacy of genetic sonogram for predicting aneuploidy in high-risk pregnancies. METHODS: This retrospective study included 1363 pregnant women who underwent a second trimester genetic sonogram due to high-risk pregnancy. Sensitivity, specificity, odds ratio, (+) and (-) likelihood ratios were calculated for each of the ultrasonography markers. RESULTS: Among the high-risk pregnancy study population, there was no significant difference regarding advanced maternal age, presence of a relative with Down Syndrome, history of anomaly in the previous pregnancy, hyperechogenic bowels, pyelectasis, nuchal fold thickness > 5 mm, ventriculomegaly, choroid plexus cyst, single umbilical artery, or presence of right echogenic intracardiac focus between the control and aneuploidy groups (p>0.05). Tricuspid regurgitation, hypoplasia/absence of nasal bone, short femur, short humerus and left echogenic intracardiac focus were associated with increased risk of aneuploidy (p<0.05). The risk of aneuploidy was increased by 14.45 fold (95% CI 2.90-71.85) in cases with tricuspid regurgitation, 18.01 (5.46-59.32) fold by hypoplasia/absence of nasal bone, 9.74 (3.70-25.65) fold by presence of short femur, 11.42 (4.30-30.30) fold by presence of short humerus, and 4.20 (1.39-12.64) fold with the presence of left echogenic intracardiac focus. Analysis of combined markers showed that hypoplasia/absence of nasal bone + short humerus + tricuspid regurgitation resulted in the highest risk (OR = 11.20, LHR = 7.53). CONCLUSION: İn some countries, where NIPT are not thoroughly diffused,Genetic sonography is recommended for Down syndrome risk modification in high-risk pregnancies.

Keywords:

aneuploidy, pregnancy, genetic sonogram,

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1. ACOG Committee Opinion: Down Syndrome Screening. Publication No. 141, 1994, American College of Obstetricians and Gynecologists, Washington, DC.
2. Lynch L, Berkowitz RL: Amniocentesis, Skin Biopsy, Umblical Cord Blood Sampling in the Prenatal Diagnosis of Genetic Disorders. in Reece EA, Hobbins JC, Mahoney MJ. (eds): Medicine of the Fetus and Mother. Philadelphia. JB. Lippincott, 1992 , pp 641-652
3. Scott F, Peters H, Boogert T et al. The loss rates for invasive prenatal testing in a specialised obstetric ultrasound practice. Aust N Z J Obstet Gynaecol 2002; 42: 55-8.
4. Nyberg DA, Souter VL. Sonographic markers of fetal aneuploidy. Clin Perinatol 2000; 27: 761-89.
5. Vintzileos AM, Egan JF. Adjusting the risk for trisomy 21 on the basis of second trimester ultrasonography. Am J Obstet Gynecol, 1995; 172: 837-844.
6.American College of Obstetricians and Gynecologists. ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy. Obstet Gynecol 2007;110: 1459–67.
7. Benacerraf BR, Neuberg D, Bromley B, Frigoletto FD Jr. Sonographic scoring index for prenatal detection of chromosomal abnormalities. J Ultrasound Med 1992; 11: 449-58.
8. Odibo AO, Sehdev HM, Gerkowicz S, Stamilio DM, Macones GA.. Comparison of the efficiency of second-trimester nasal bone hypoplasia and increased nuchal fold in Down syndrome screening. Am J Obstet Gynecol 2008;199:281.e1–5.
9.Vos FI, De Jong-Pleij EA, Ribbert LS, Tromp E, Bilardo CM. Three-dimensional ultrasound imaging and measurement of nasal bone length, prenasal thickness and frontomaxillary facial angle in normal second- and thirdtrimester fetuses. Ultrasound Obstet Gynecol 2012;39:636–41.
10.Fehmi Yazıcıoğlu H, Sevket O, Akın H, Aygün M, Özyurt ON, Karahasanoğlu A. Aberrant right subclavian artery in Down syndrome fetuses. Prenat Diagn 2013;33:209–13.
11. Faiola S, Tsoi E, Huggon IC, Allan LD, Nicolaides KH. Likelihood ratio for trisomy 21 in fetuses with tricuspid regurgitatiom at the 11 to 13+6 week scan. Ultrasound Obstet Gynecol 2005;26:22-7
12. Vintzileos AM, Campbell WA, Rodis JF, Guzman ER, Smulian JC, Knuppel RA. The use of second-trimester genetic sonogram in guiding clinical management of patients at increased risk for fetal trisomy 21. Obstet Gynecol 1996; 87: 948-52.
13.Cicero S, Sonek JD, McKenna DS, Croom CS, Johnson L, Nicolaides KH. Nasal bone hypoplasia in trisomy 21 at 15-22 weeks’ gestation. Ultrasound Obstet Gynecol. 2003;21:15-18.
14 .Bromley B, Lieberman E, Shipp TD, Benacerraf BR. Fetal nose bone length: a marker for Down syndrome in the second trimester. J Ultrasound Med 2002;12:1387-94
15. Benacerraf B. The role of the second trimester genetic sonogram in screening for fetal Down syndrome. Semin Perinatol. 2005;29:386-394.
16. Nyberg DA, Sourer VE. Use of genetic sonography for adjusting the risk for fetal Down syndrome. Semin Perinatol. 2003;27:130-144
17.Johnson MP, Michaelson JE, Barr M Jr et al. Combining humerus and femur length for improved ultrasonographic identification of pregnancies at increased risk for trisomy 21. Am J Obstet Gynecol 1995;172:1229-35.
18.Nyberg DA, Sourer VL, El-Bastawissi A, Young S, Luthhardt F, Luthy DA. Isolated sonographic markers for detection of fetal Down syndrome in the second trimester of pregnancy. J Ultrasound Med 2001;20:1053-63.
19.Faiola S . Falcon O , Huggon I , Allan L , Nicolaides KH . Fetal tricuspid regurgitation at the 11+0 to 13+6 week scan : Association with chromosomal defects and reproducibility of the method . Ultrasound Obstet . Gynecol .2006 ; 27:609-612
20.Roberts DJ, Genest D. Cardiac histopathologic characteristics of trisomy 13 and 21. Hum Pathol. 1992;23:1130-40.
21.Vintzileos AM, Campbell WA, Guzman ER, Smulian JC, McLean DA, Ananth Cv. Second-trimester ultrasound markers for detection of trisomy 21: which markers are best? Obstet Gynecol 1997;89:941-4.
22 .Deren O, Mahoney MJ, Copel JA, Bahado-Singh RO. Subtle ultrasonographic anomalies: do they improve the Down syndrome detection rate? Am J Obstet Gynecol 1998;178:441-5.
23. Smith Bindman R, Hosmer W, Feldstein VA, Deeks JJ, Goldberg JD. Second trimester ultrasound to detect fetuses with Down syndrome. JAMA 2001;285:1044-55.
24.Mandell J, Blyth BR, Peters CA, Retik AB, Estroff JA, Benacerraf BR. Structured genitourinary defects detected in-utero. Radiology. 1991;178:193-6.
25.Hobbins JC, Lezotte DC, Persutte WH et al. An 8-center study to evaluate the utility of mid-term genetic sonograms among high risk pregnancies. J Ultrasound Med. 2003;22:33-38.
26.Bromley B, Lieberman E, Shipp TD, Benacerraf BR. The genetic sonogram: A method of risk assessment for Down syndrome in the second trimester. J Ultrasound Med 2002;21:1087-96.
27.Gross SJ, Shulman LP, Tolley EA et al. Isolated fetal chorioid plexus cysts and trisomy 18:a review and metaanalysis. Am J Obstet Gynecol. 1995;172:83-7.
28.Budorick NE, Kelly TE, Dunn JA, Scioscia AI. The single umbilical artery in a high-risk patient population. What should be offered? J Ultrasound Med 2001;20:619-27