An atypical case of Edwards syndrome in a pediatrician’s practice

Introduction. Edwards syndrome is characterized by multiple congenital malformations and peculiar phenotypic signs. The presence of important phenotypic signs, including manifestations of the musculoskeletal system in almost 90% of newborns with this pathology allows improving the chances of early diagnosis of chromosomal diseases, while their absence cannot deny the presence of this disease. A genetic examination is necessary to clarify the diagnosis. The purpose of the description of the clinical case was an atypical course of a previously known disease.

Case description. There is presented a description of a clinical case of a newborn with Edwards syndrome, which was observed from birth. Owing to the introduction into clinical practice of the method of prenatal (ultrasound and biochemical) screening at the time of 16/3 weeks, an increased genetic risk for the development of chromosomal abnormalities and /or congenital malformations in the fetus was revealed according to the age factor of the mother (42 years). Postnatally, the birth of a newborn with a non-classical manifestation of the phenotype of Edwards syndrome caused difficulties in making a diagnosis. The genetic research made it possible to establish trisomy 18, meiotic non-divergence, Edwards syndrome, trisomal form (Q91.0) in the infant during the first month who died at the age of 2 months. Comparison of clinical and pathoanatomical diagnosis allowed presenting the completeness of clinical manifestations of this disease.

The presented clinical example demonstrates the important role of pre- and neonatal screening in the early diagnosis of chromosomal diseases and emphasizes the importance of continuous medication support, including work with parental stress and parental support. An atypical manifestation of a chromosomal disease does not deny its presence and a genetic study is necessary to clarify the diagnosis.

Сontribution:
Kizatova S.T., Medetbekova A.A. — concept and design of the study;
Babulova A.S., Utegenov A.A., Medetbekova A.A. — data collection;
Babulova A.S., Bulegenova D.B. — text writing;
Kizatova S.T. — text editing.
All co-authors — approval of the final version of the article, responsibility for the integrity of all its parts.

Acknowledgment. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: April 19, 2022
Accepted: June 10, 2022
Published: May 07, 2022

1. Crawford D., Dearmun A. Edwards’ syndrome. Nurs. Child. Young People. 2016; 28(10): 17. https://doi.org/10.7748/ncyp.28.10.17.s19

2. Outtaleb F.Z., Errahli R., Imelloul N., Jabrane G., Serbati N., Dehbi H. Trisomy 18 or postnatal Edwards syndrome: descriptive study conducted at the University Hospital Center of Casablanca and literature review. Pan Afr. Med. J. 2020; 37: 309. https://doi.org/10.11604/pamj.2020.37.309.26205 (in French)

3. Kepple J.W., Fishler K.P., Peeples E.S. Surveillance guidelines for children with trisomy 18. Am. J. Med. Genet. A. 2021; 185(4): 1294–303. https://doi.org/10.1002/ajmg.a.62097

4. Bussmann N., Cunningham K., Green A., Ryan C.A. Phenotypic extremes in liveborn monozygotic twins with mosaic Edwards syndrome. BMJ Case Rep. 2015; 2015: bcr2015211587. https://doi.org/10.1136/bcr-2015-211587

5. Fick T.A., Sexson Tejtel S.K. Trisomy 18 trends over the last 20 years. J. Pediatr. 2021; 239: 206-211.e1. https://doi.org/10.1016/j.jpeds.2021.07.062

6. Cernat A., De Freitas C., Majid U., Trivedi F., Higgins C., Vanstone M. Facilitating informed choice about non-invasive prenatal testing (NIPT): a systematic review and qualitative meta-synthesis of women’s experiences. BMC Pregnancy Childbirth. 2019; 19(1): 27. https://doi.org/10.1186/s12884-018-2168-4

7. Andrews S.E., Downey A.G., Showalter D.S., Fitzgerald H., Showalter V.P., Carey J.C., et al. Shared decision making and the pathways approach in the prenatal and postnatal management of the trisomy 13 and trisomy 18 syndromes. Am. J. Med. Genet. C Semin. Med. Genet. 2016; 172(3): 257–63. https://doi.org/10.1002/ajmg.c.31524

8. Lepesova M.M., Otegenov D.T., Kurmantay A.M. Rare clinical case of Edwards syndrome. Vestnik Almatinskogo gosudarstvennogo instituta usovershenstvovaniya vrachey. 2016; (2): 25–8. (in Russian)

9. Spencer R., Hewitt H., McCarthy L., Wimalasundera R., Pandya P. Non-invasive prenatal testing for aneuploidy screening. BMJ. 2020; 371: m3930. https://doi.org/10.1136/bmj.m3930

10. Zou Y., Cui L., Xue M., Yan J., Huang M., Gao M., et al. Applications of noninvasive prenatal testing in vanishing twin syndrome pregnancies after treatment of assisted reproductive technology in a single center. Prenat. Diagn. 2021; 41(2): 226–33. https://doi.org/10.1002/pd.5836

11. Wang K., Lai L., Tu H., Lin H., Shen X. Application of multiple short tandem repeat loci for rapid diagnosis of down syndrome and Edward syndrome. Clin. Lab. 2021; 67(7). https://doi.org/10.7754/Clin.Lab.2020.201112

12. Quaresima P., Homfray T., Greco E. Obstetric complications in pregnancies with life-limiting malformations. Curr. Opin. Obstet. Gynecol. 2019; 31(6): 375–87. https://doi.org/10.1097/GCO.0000000000000583

13. Cortezzo D.E., Ellis K., Schlegel A. Perinatal palliative care birth planning as advance care planning. Front. Pediatr. 2020; 8: 556. https://doi.org/10.3389/fped.2020.00556

14. Chung D., Haynes K., Haynes R. Surviving with trisomy 13: Provider and parent perspectives and the role of the pediatric palliative care program. Am. J. Med. Genet. A. 2017; 173(3): 813–5. https://doi.org/10.1002/ajmg.a.37984

15. Hasegawa S.L., Fry J.T. Moving toward a shared process: The impact of parent experiences on perinatal palliative care. Semin. Perinatol. 2017; 41(2): 95–100. https://doi.org/10.1053/j.semperi.2016.11.002

16. Silberberg A., Robetto J., Grimaux G., Nucifora L., Moreno Villares J.M. Ethical issues about the paradigm shift in the treatment of children with trisomy 18. Eur. J. Pediatr. 2020; 179(3): 493–7. https://doi.org/10.1007/s00431-019-03531-4

17. Janvier A., Farlow B., Barrington K.J. Parental hopes, interventions, and survival of neonates with trisomy 13 and trisomy 18. J. Med. Genet. C Semin. Med. Genet. 2016; 172(3): 279–87. https://doi.org/10.1002/ajmg.c.31526

18. López-Ríos V., Grajales-Marín E., Gómez-Zambrano V., Barrios-Arroyave F.A. Prolonged survival in Edwards syndrome with congenital heart disease: a case report and literature review. Medwave. 2020; 20(8): e8015. https://doi.org/10.5867/medwave.2020.08.8015

19. Carvajal H.G., Callahan C.P., Miller J.R., Rensink B.L., Eghtesady P. Cardiac surgery in trisomy 13 and 18: a guide to clinical decision-making. Pediatr. Cardiol. 2020; 41(7): 1319–33. https://doi.org/10.1007/s00246-020-02444-6

20. Stadler J.A. 3rd. Neurosurgical evaluation and management of patients with chromosomal abnormalities. Neurosurg. Clin. N. Am. 2022; 33(1): 61–5. https://doi.org/10.1016/j.nec.2021.09.012

21. Nelson K.E., Janvier A., Nathanson P.G., Feudtner C. Ethics and the importance of good clinical practices. Am. J. Bioeth. 2020; 20(1): 67–70. https://doi.org/10.1080/15265161.2019.1688428

22. Inoue H., Matsunaga Y., Sawano T., Fujiyoshi J., Kinjo T., Ochiai M., et al. Survival outcomes of very low birth weight infants with trisomy 18. Am. J. Med. Genet. A. 2021; 185(11): 3459–65. https://doi.org/10.1002/ajmg.a.62466