Prenatal sonographic findings associated with trisomy 13 and 18; report of prenatally diagnosed cases in a single center
Abstract
Purpose: In this retrospective study, we aimed to evaluate the prenatal sonographic findings of the fetuses with trisomy 13 and 18.
Materials and Methods: The sonographic findings of fetuses which were prenatally diagnosed as trisomy 13 and 18 were retrospectively reviewed in two years’ period at a single tertiary perinatal center. The most common findings for each aneuploidy were described.
Results: Total 13 cases were diagnosed as trisomy 13 or 18 during two years’ period of which three cases were trisomy 13 and 10 cases were trisomy 18. Major sonographic abnormality associated with trisomy 13 was holoprosencephaly while cardiac abnormalities were the leading finding for trisomy 18.
Conclusion: Trisomy 13 and 18 have major prenatal sonographic findings that may be detected with a targeted sonographic examination. Fetal cardiac and central nervous system abnormalities are the primary major findings associated with trisomy 13 and 18.
Keywords
References
- Kosho T, Nakamura T, Kawame H, Baba A, Tamura M, Fukushima Y. Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatment. American Journal of Medical Genetics Part A 2006;140:937-944.
- Edwards J, Harnden D, Cameron A, Crosse VM, Wolf O. A new trisomic syndrome. The lancet 1960;275:787-790.
- Jones KL. Smith’s Recognizable patterns of human malformation. Philadelphia: Elsevier Saunders; 2006. 3. Nemec SF, Cohn DH, Krakow D, et al. The importance of conventional.
- Rasmussen SA, Wong L-YC, Yang Q, May KM, Friedman J. Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics 2003;111:777-784.
- Pont SJ, Robbins JM, Bird T, et al. Congenital malformations among liveborn infants with trisomies 18 and 13. American Journal of Medical Genetics Part A 2006;140:1749-1756.
- Chen C-P, Chien S-C. Prenatal Sonographic Features of Trisomy 18. Journal of Medical Ultrasound 2007;15:67-76.
- Smith DW, Patau K, Therman E, Inhorn SL. A new autosomal trisomy syndrome: multiple congenital anomalies caused by an extra chromosome. The Journal of pediatrics 1960;57:338-345.
- Snijders R, Holzgreve W, Cuckle H, Nicolaides K. Maternal age‐specific risks for trisomies at 9—14 weeks' gestation. Prenatal diagnosis 1994;14:543-552.
- Lakovschek IC, Streubel B, Ulm B. Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis. American Journal of Medical Genetics Part A 2011;155:2626-2633.
- Cassidy SB, Allanson JE. Management of genetic syndromes: John Wiley & Sons; 2010.
- Van Praagh S, Truman T, Firpo A, Bang-Rodrigo A, Fried R, McMANUS B, et al. Cardiac malformations in trisomy-18: a study of 41 postmortem cases. Journal of the American College of Cardiology 1989;13:1586-1597.
- Graham EM, Bradley SM, Shirali GS, Hills CB, Atz AM. Effectiveness of cardiac surgery in trisomies 13 and 18 (from the Pediatric Cardiac Care Consortium). The American journal of cardiology 2004;93:801-803.
- Calzolari E, Bianchi F, Dolk H, Milan M. Omphalocele and gastroschisis in Europe: a survey of 3 million births 1980–1990. American journal of medical genetics 1995;58:187-194.
- Stoll C, Dott B, Alembik Y, Roth MP. Associated malformations among infants with neural tube defects. American Journal of Medical Genetics Part A 2011;155:565-568.
- Yeo L, Guzman ER, Day-Salvatore D, Walters C, Chavez D, Vintzileos AM. Prenatal detection of fetal trisomy 18 through abnormal sonographic features. Journal of ultrasound in medicine 2003;22:581-590.
- Papageorghiou AT, Avgidou K, Spencer K, Nix B, Nicolaides KH. Sonographic screening for trisomy 13 at 11 to 13+ 6 weeks of gestation. American journal of obstetrics and gynecology 2006;194:397-401.
- Marcorelles P, Laquerriere A, editors. Neuropathology of holoprosencephaly. American Journal of Medical Genetics Part C: Seminars in Medical Genetics; 2010: Wiley Online Library.
Trizomi 13 ve 18 ile ilişkili prenatal sonografik bulgular; tek bir merkezde prenatal tanı konmuş olguların sunumu
Abstract
Amaç: Bu retrospektif çalışmada trizomi 13 ve 18 olan fetüslerin prenatal sonografik bulgularını değerlendirmeyi amaçladık.
Gereç ve Yöntem: Doğum öncesi 13 ve 18 trizomi tanısı konan fetusların sonografik bulguları, tek bir tersiyer perinatal merkezde iki yıllık dönemde retrospektif olarak incelendi. Her bir anöploidi için en yaygın bulgular tanımlandı.
Bulgular: İki yıl boyunca toplam 13 olguya trizomi 13 veya 18 tanısı konuldu, bunlardan üçü trizomi 13 ve 10'u trizomi 18 idi. Trizomi 13 ile ilişkili majör sonografik anormallik holoprosensefali iken kardiyak anormallikler trizomi 18 için önde gelen bulgudur.
Sonuç: Trizomi 13 ve 18, sonografik inceleme ile saptanabilecek majör prenatal sonografik bulgulara sahiptir. Fetal kardiyak ve santral sinir sistemi anormallikleri trizomi 13 ve 18 ile ilişkili başlıca başlıca bulgulardır.
Keywords
References
- Kosho T, Nakamura T, Kawame H, Baba A, Tamura M, Fukushima Y. Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatment. American Journal of Medical Genetics Part A 2006;140:937-944.
- Edwards J, Harnden D, Cameron A, Crosse VM, Wolf O. A new trisomic syndrome. The lancet 1960;275:787-790.
- Jones KL. Smith’s Recognizable patterns of human malformation. Philadelphia: Elsevier Saunders; 2006. 3. Nemec SF, Cohn DH, Krakow D, et al. The importance of conventional.
- Rasmussen SA, Wong L-YC, Yang Q, May KM, Friedman J. Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics 2003;111:777-784.
- Pont SJ, Robbins JM, Bird T, et al. Congenital malformations among liveborn infants with trisomies 18 and 13. American Journal of Medical Genetics Part A 2006;140:1749-1756.
- Chen C-P, Chien S-C. Prenatal Sonographic Features of Trisomy 18. Journal of Medical Ultrasound 2007;15:67-76.
- Smith DW, Patau K, Therman E, Inhorn SL. A new autosomal trisomy syndrome: multiple congenital anomalies caused by an extra chromosome. The Journal of pediatrics 1960;57:338-345.
- Snijders R, Holzgreve W, Cuckle H, Nicolaides K. Maternal age‐specific risks for trisomies at 9—14 weeks' gestation. Prenatal diagnosis 1994;14:543-552.
- Lakovschek IC, Streubel B, Ulm B. Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis. American Journal of Medical Genetics Part A 2011;155:2626-2633.
- Cassidy SB, Allanson JE. Management of genetic syndromes: John Wiley & Sons; 2010.
- Van Praagh S, Truman T, Firpo A, Bang-Rodrigo A, Fried R, McMANUS B, et al. Cardiac malformations in trisomy-18: a study of 41 postmortem cases. Journal of the American College of Cardiology 1989;13:1586-1597.
- Graham EM, Bradley SM, Shirali GS, Hills CB, Atz AM. Effectiveness of cardiac surgery in trisomies 13 and 18 (from the Pediatric Cardiac Care Consortium). The American journal of cardiology 2004;93:801-803.
- Calzolari E, Bianchi F, Dolk H, Milan M. Omphalocele and gastroschisis in Europe: a survey of 3 million births 1980–1990. American journal of medical genetics 1995;58:187-194.
- Stoll C, Dott B, Alembik Y, Roth MP. Associated malformations among infants with neural tube defects. American Journal of Medical Genetics Part A 2011;155:565-568.
- Yeo L, Guzman ER, Day-Salvatore D, Walters C, Chavez D, Vintzileos AM. Prenatal detection of fetal trisomy 18 through abnormal sonographic features. Journal of ultrasound in medicine 2003;22:581-590.
- Papageorghiou AT, Avgidou K, Spencer K, Nix B, Nicolaides KH. Sonographic screening for trisomy 13 at 11 to 13+ 6 weeks of gestation. American journal of obstetrics and gynecology 2006;194:397-401.
- Marcorelles P, Laquerriere A, editors. Neuropathology of holoprosencephaly. American Journal of Medical Genetics Part C: Seminars in Medical Genetics; 2010: Wiley Online Library.
Details
| Primary Language | English |
|---|---|
| Subjects | Obstetrics and Gynaecology |
| Journal Section | Research Article |
| Authors | |
| Publication Date | January 4, 2021 |
| Submission Date | June 24, 2020 |
| Acceptance Date | October 9, 2020 |
| Published in Issue | Year 2021 Volume: 14 Issue: 1 |
Cite
