Prenatal echocardiography in Trisomy 18 — the key to diagnosis and further management in the second half of pregnancy
, 13, 13, 24, 13, 124
Abstract
Objectives: Trisomy 18 is an autosomal chromosomal disorder, which is associated with numerous ranges of congenital anomalies. Purpose of this largest study in Poland was to analyze diagnosis and follow-up of fetuses with the prenatal diagnosis of Trisomy 18 in our tertiary center.
Material and methods: The study was conducted in a tertiary center for fetal cardiology. The inclusion criteria comprised fetuses with karyotype of Trisomy 18. Data on number of delivery, number of pregnancy, cardiac and extracardiac diseases, type and date of childbirth, sex, birth date, Apgar score, survival time and autopsy were analyzed.
Results: There were 41 fetuses with diagnosis confirmed by amniocentesis: 34 were females, 7 males. CHD was detected prenatally in 73% cases at mean gestational age of 26 weeks. The most common CHD was AV-canal (13 cases, 43%) and VSD (13 cases, 43%). In 1999–2010 the average time to detect a heart defect was 29 weeks, in 2011–2021 it was 23 weeks (p < 0.01, U-Mann-Whitney). IUGR was diagnosed in the 3rd trimester in 29 cases (70%), polyhydramnion in 21 cases (51%).
Conclusions: Congenital heart defects in female fetuses with intrauterine growth restriction in 3rd trimester with polyhydramnios and in subsequent pregnancy, regardless of maternal age, were typical prenatal findings for Trisomy 18. Heart defects with incomplete septum such as AVC or VSD (which nowadays can be detected in the 1st half of the pregnancy) were the most common anomaly in Edwards Syndrome. These heart defects did not require intervention in the early neonatal period.
Keywords: Trisomy 18Edwards Syndromecongenital heart defectschromosomal disorder
References
- EDWARDS JH, HARNDEN DG, CAMERON AH, et al. A new trisomic syndrome. Lancet. 1960; 1(7128): 787–790.
- SMITH DW, PATAU K, THERMAN E, et al. A new autosomal trisomy syndrome: multiple congenital anomalies caused by an extra chromosome. J Pediatr. 1960; 57: 338–345.
- Goel N, Morris JK, Tucker D, et al. Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis. Am J Med Genet A. 2019; 179(12): 2382–2392.
- Springett A, Wellesley D, Greenlees R, et al. Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 European countries, 2000–2011. Am J Med Genet A. 2015; 167A(12): 3062–3069.
- Tonks AM, Gornall AS, Larkins SA, et al. Trisomies 18 and 13: trends in prevalence and prenatal diagnosis - population based study. Prenat Diagn. 2013; 33(8): 742–750.
- Cereda A, Carey JC. The trisomy 18 syndrome. Orphanet J Rare Dis. 2012; 7: 81.
- Luo S, Meng D, Li Q, et al. Genetic Testing and Pregnancy Outcome Analysis of 362 Fetuses with Congenital Heart Disease Identified by Prenatal Ultrasound. Arq Bras Cardiol. 2018; 111(4): 571–577.
- Carter PE, Pearn JH, Bell J, et al. Survival in trisomy 18. Life tables for use in genetic counselling and clinical paediatrics . Clin Genet. 1985; 27(1): 59–61.
- Embleton ND, Wyllie JP, Wright MJ, et al. Natural history of trisomy 18. Arch Dis Child Fetal Neonatal Ed. 1996; 75(1): F38–F41.
- Carvajal HG, Callahan CP, Miller JR, et al. Cardiac Surgery in Trisomy 13 and 18: A Guide to Clinical Decision-Making. Pediatr Cardiol. 2020; 41(7): 1319–1333.
- Makrydimas G, Papanikolaou E, Paraskevaidis E, et al. Upper limb abnormalities as an isolated ultrasonographic finding in early detection of trisomy 18. A case report. Fetal Diagn Ther. 2003; 18(6): 401–403.
- Sepulveda W, Wong AE, Dezerega V. First-trimester sonographic findings in trisomy 18: a review of 53 cases. Prenat Diagn. 2010; 30(3): 256–259.
- Zhen L, Li YJ, Yang YD, et al. The role of ultrasound in women with a positive NIPT result for trisomy 18 and 13. Taiwan J Obstet Gynecol. 2019; 58(6): 798–800.
- Respondek-Liberska M. The role of perinatal cardiology in saving the life and its quality of fetuses, newborns and children (on the basis of own experience and review of the literature). Dev Period Med. 2018; 22(3): 270–279.
- Respondek-Liberska M. The practical significance of perinatal cardiology based on own experience. Dev Period Med. 2018; 22(3): 229–237.
- Kepple JW, Fishler KP, Peeples ES. Surveillance guidelines for children with trisomy 18. Am J Med Genet A. 2021; 185(4): 1294–1303.
- Peterson R, Calamur N, Fiore A, et al. Factors Influencing Outcomes After Cardiac Intervention in Infants with Trisomy 13 and 18. Pediatr Cardiol. 2018; 39(1): 140–147.
- Weaver MS, Anderson V, Beck J, et al. Interdisciplinary care of children with trisomy 13 and 18. Am J Med Genet A. 2021; 185(3): 966–977.
- Brumfield CG, Wenstrom KD, Owen J, et al. Ultrasound findings and multiple marker screening in trisomy 18. Obstet Gynecol. 2000; 95(1): 51–54.
- Cho RC, Chu P, Smith-Bindman R. Second trimester prenatal ultrasound for the detection of pregnancies at increased risk of Trisomy 18 based on serum screening. Prenat Diagn. 2009; 29(2): 129–139.
- Anderson CL, Brown CE. Fetal chromosomal abnormalities: antenatal screening and diagnosis. Am Fam Physician. 2009; 79(2): 117–123.
- Ziolkowska K, Tobola-Wrobel K, Dydowicz P, et al. The significance of maternal blood pregnancy-associated plasma protein A (PAPP-A) and free beta-subunit of human chorionic gonadotropin (β-hCG) levels for the risk assessment of fetal trisomy 18 during the first prenatal testing between 11 and 13+6 weeks of pregnancy. Ginekol Pol. 2020; 91(12): 748–754.
- Becker DA, Tang Y, Jacobs AP, et al. Sensitivity of prenatal ultrasound for detection of trisomy 18. J Matern Fetal Neonatal Med. 2019; 32(22): 3716–3722.
- Calabrò R, Limongelli G. Complete atrioventricular canal. Orphanet J Rare Dis. 2006; 1: 8.
- Kaczmarek P, Krasoń A, Janiak K, et al. [The role of fetal echocardiography and genetic sonography in prenatal diagnosis of the Edward's syndrome--analysis of the thirty case diagnosed at the Department of the Diagnosis for Fetal Malformations at the Institute "Polish Mother's Memorial Hospital."]. Ginekol Pol. 2002; 73(7): 600–605.
- Matsuoka R, Misugi K, Goto A, et al. Congenital heart anomalies in the trisomy 18 syndrome, with reference to congenital polyvalvular disease. Am J Med Genet. 1983; 14(4): 657–668.
- Bruns DA, Martinez A. An analysis of cardiac defects and surgical interventions in 84 cases with full trisomy 18. Am J Med Genet A. 2016; 170A(2): 337–343.
- Czuba B, Nycz-Reska M, Cnota W, et al. Quantitative and qualitative Ductus Venosus blood flow evaluation in the screening for Trisomy 18 and 13 - suitability study. Ginekol Pol. 2020; 91(3): 144–148.
- Kornacki J, Adamczyk M, Wirstlein P, et al. Polyhydramnios - frequency of congenital anomalies in relation to the value of the amniotic fluid index. Ginekol Pol. 2017; 88(8): 442–445.
- Hamza A, Herr D, Solomayer EF, et al. Hydramnios and small for gestational age are independent risk factors for neonatal mortality and maternal morbidity. Arch Gynecol Obstet. 2004; 271: 296.
- Dall'Asta A, Girardelli S, Usman S, et al. Etiology and perinatal outcome of periviable fetal growth restriction associated with structural or genetic anomaly. Ultrasound Obstet Gynecol. 2020; 55(3): 368–374.
- Silva C, Ferreira MC, Saraiva J, et al. Trisomy 18-when the diagnosis is compatible with life. Eur J Pediatr. 2022; 181(7): 2809–2819.
- Saller DN, Oyer CE, Star J, et al. A normative study of obstetric complications associated with fetal trisomy 18. J Perinatol. 1996; 16(2 Pt 1): 117–120.
- Schneider AS, Mennuti MT, Zackai EH. High cesarean section rate in trisomy 18 births: a potential indication for late prenatal diagnosis. Am J Obstet Gynecol. 1981; 140(4): 367–370.
- Morris JK, Savva GM. The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18. Am J Med Genet A. 2008; 146A(7): 827–832.
- Won RH, Currier RJ, Lorey F, et al. The timing of demise in fetuses with trisomy 21 and trisomy 18. Prenat Diagn. 2005; 25(7): 608–611.
- Hill LM. The sonographic detection of trisomies 13, 18, and 21. Clin Obstet Gynecol. 1996; 39(4): 831–850.
- Kato E, Kitase Y, Tachibana T, et al. Factors related to survival discharge in trisomy 18: A retrospective multicenter study. Am J Med Genet A. 2019; 179(7): 1253–1259.
- Nakai R, Fujioka T, Okamura K, et al. Survival Outcomes of Two-Stage Intracardiac Repair in Large Ventricular Septal Defect and Trisomy 18. Pediatr Cardiol. 2021; 42(4): 821–831.
