Volume 9, Issue 4 (2025)
SJMR 2025, 9(4): 215-220 |
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Giti S, Nateghi M R. A Case Report of a Late-Term Miscarriage with a Severe Genetic Abnormality. SJMR 2025; 9 (4) : 4
URL: http://saremjrm.com/article-1-349-en.html
URL: http://saremjrm.com/article-1-349-en.html
1- Sarem Gynecology, Obstetrics and Infertility Research Center, Sarem Women’s Hospital, Iran University of Medical Science (IUMS), Tehran, Iran.
2- Sarem Gynecology, Obstetrics and Infertility Research Center, Sarem Women’s Hospital, Iran University of Medical Science (IUMS), Tehran, Iran. & Sarem Cell Research Center (SCRC), Sarem Women’s Hospital, Tehran, Iran.
2- Sarem Gynecology, Obstetrics and Infertility Research Center, Sarem Women’s Hospital, Iran University of Medical Science (IUMS), Tehran, Iran. & Sarem Cell Research Center (SCRC), Sarem Women’s Hospital, Tehran, Iran.
Abstract: (1388 Views)
Introduction: Late miscarriage, defined as pregnancy loss between 12 and 24 weeks of gestation, represents a significant challenge in maternal-fetal medicine. While various factors, including anatomical abnormalities, autoimmune disorders, and metabolic conditions, contribute to this phenomenon, genetic abnormalities are among the leading causes. Increased nuchal translucency (NT) is recognized as an early screening marker for chromosomal abnormalities, including trisomy 13, 18, and 21. This study presents a rare case of late miscarriage associated with a severe genetic abnormality.
Case Presentation: The patient was a 36-year-old woman with an in vitro fertilization (IVF) pregnancy who exhibited increased NT (8.5 mm) and fetal tachycardia during first-trimester screening. At 12–13 weeks of gestation, she was admitted to the hospital with premature rupture of membranes and intrauterine fetal demise (IUFD). Further examinations revealed the presence of a large ovarian cyst, which required laparoscopic surgery. Cytogenetic analysis confirmed a severe chromosomal abnormality in the fetus, which was identified as the primary cause of late miscarriage.
Conclusion: This case highlights that increased NT in the first trimester serves as an important predictor of chromosomal abnormalities and adverse pregnancy outcomes. Moreover, IVF pregnancies may carry an elevated risk of chromosomal disorders and complications, necessitating meticulous monitoring. In cases of late miscarriage, comprehensive genetic testing, including karyotyping and advanced techniques such as next-generation sequencing (NGS), is essential for identifying potential etiologies and providing appropriate genetic counseling to couples
Case Presentation: The patient was a 36-year-old woman with an in vitro fertilization (IVF) pregnancy who exhibited increased NT (8.5 mm) and fetal tachycardia during first-trimester screening. At 12–13 weeks of gestation, she was admitted to the hospital with premature rupture of membranes and intrauterine fetal demise (IUFD). Further examinations revealed the presence of a large ovarian cyst, which required laparoscopic surgery. Cytogenetic analysis confirmed a severe chromosomal abnormality in the fetus, which was identified as the primary cause of late miscarriage.
Conclusion: This case highlights that increased NT in the first trimester serves as an important predictor of chromosomal abnormalities and adverse pregnancy outcomes. Moreover, IVF pregnancies may carry an elevated risk of chromosomal disorders and complications, necessitating meticulous monitoring. In cases of late miscarriage, comprehensive genetic testing, including karyotyping and advanced techniques such as next-generation sequencing (NGS), is essential for identifying potential etiologies and providing appropriate genetic counseling to couples
Article number: 4
Keywords: Late Miscarriage , Chromosomal Abnormality , Increased Nuchal Translucency (NT) , In Vitro Fertilization (IVF) , Intrauterine Fetal Demise (IUFD) , Karyotyping , Medical Genetics
Article Type: Case Report |
Subject:
Pregnancy Care
Received: 2025/01/4 | Accepted: 2025/02/5 | Published: 2025/03/6
Received: 2025/01/4 | Accepted: 2025/02/5 | Published: 2025/03/6
References
1. Quenby, S., et al., Miscarriage matters: the epidemiological, physical, psychological, and economic costs of early pregnancy loss. The Lancet, 2021. 397(10285): p. 1658-1667. [DOI:10.1016/S0140-6736(21)00682-6] [PMID]
2. Go, V.-A., et al., Perinatal outcomes of women with recurrent pregnancy loss undergoing frozen embryo transfer from the Society of Assisted Reproductive Technology database. Fertility and Sterility, 2024. [DOI:10.1016/j.fertnstert.2024.10.016] [PMID]
3. Kukulskienė, M. and N. Žemaitienė, Experience of Late Miscarriage and Practical Implications for Post-Natal Health Care: Qualitative Study. Healthcare (Basel), 2022. 10(1). [DOI:10.3390/healthcare10010079] [PMID] []
4. Quenby, S., et al., Miscarriage matters: the epidemiological, physical, psychological, and economic costs of early pregnancy loss. Lancet, 2021. 397(10285): p. 1658-1667. [DOI:10.1016/S0140-6736(21)00682-6] [PMID]
5. Health, W.H.O.R., Managing complications in pregnancy and childbirth: a guide for midwives and doctors. 2003: World Health Organization.
6. MacDorman, M.F. and E.C. Gregory, Fetal and Perinatal Mortality: United States, 2013. Natl Vital Stat Rep, 2015. 64(8): p. 1-24.
7. Kolte, A., et al., Terminology for pregnancy loss prior to viability: a consensus statement from the ESHRE early pregnancy special interest group. Human reproduction, 2015. 30(3): p. 495-498. [DOI:10.1093/humrep/deu299] [PMID]
8. Doubilet, P.M., et al., Diagnostic criteria for nonviable pregnancy early in the first trimester. New England Journal of Medicine, 2013. 369(15): p. 1443-1451. [DOI:10.1056/NEJMra1302417] [PMID]
9. Abdelazim, I.A., et al., Miscarriage definitions, causes and management: review of literature. ARC J Gynecol Obstet, 2017. 2(3): p. 20-31. [DOI:10.20431/2456-0561.0203005]
10. Kukulskienė, M. and N. Žemaitienė. Experience of late miscarriage and practical implications for post-natal health care: qualitative study. in Healthcare. 2022. MDPI. [DOI:10.3390/healthcare10010079] [PMID] []
11. Beutel, M., et al., Grief and depression after miscarriage: their separation, antecedents, and course. Psychosom Med, 1995. 57(6): p. 517-26. [DOI:10.1097/00006842-199511000-00003] [PMID]
12. Klier, C.M., P.A. Geller, and J.B. Ritsher, Affective disorders in the aftermath of miscarriage: a comprehensive review. Arch Womens Ment Health, 2002. 5(4): p. 129-49. [DOI:10.1007/s00737-002-0146-2] [PMID]
13. Kulathilaka, S., R. Hanwella, and V.A. de Silva, Depressive disorder and grief following spontaneous abortion. BMC Psychiatry, 2016. 16: p. 100. [DOI:10.1186/s12888-016-0812-y] [PMID] []
14. deMontigny, F., et al., Women's persistent depressive and perinatal grief symptoms following a miscarriage: the role of childlessness and satisfaction with healthcare services. Arch Womens Ment Health, 2017. 20(5): p. 655-662. [DOI:10.1007/s00737-017-0742-9] [PMID] []
15. Devlin, C.A., J. Huberty, and D.S. Downs, Influences of prior miscarriage and weight status on perinatal psychological well-being, exercise motivation and behavior. Midwifery, 2016. 43: p. 29-36. [DOI:10.1016/j.midw.2016.10.010] [PMID] []
16. Dundar, O., et al., Recurrent pregnancy loss is associated with increased red cell distribution width and platelet distribution width. J Obstet Gynaecol Res, 2015. 41(4): p. 551-8. [DOI:10.1111/jog.12600] [PMID]
17. Korenromp, M.J., et al., Long-term psychological consequences of pregnancy termination for fetal abnormality: a cross-sectional study. Prenat Diagn, 2005. 25(3): p. 253-60. [DOI:10.1002/pd.1127] [PMID]
18. Farren, J., et al., Posttraumatic stress, anxiety and depression following miscarriage and ectopic pregnancy: a multicenter, prospective, cohort study. Am J Obstet Gynecol, 2020. 222(4): p. 367.e1-367.e22. [DOI:10.1016/j.ajog.2019.10.102] [PMID]
19. Davies, V., et al., Psychological outcome in women undergoing termination of pregnancy for ultrasound-detected fetal anomaly in the first and second trimesters: a pilot study. Ultrasound Obstet Gynecol, 2005. 25(4): p. 389-92. [DOI:10.1002/uog.1854] [PMID]
20. D'Ambrosi, F., et al., Risk of stillbirth in singleton fetuses with advancing gestational age at term: A 10-year experience of late third trimester prenatal screenings of 50,000 deliveries in a referral center in northern Italy. Plos one, 2023. 18(2): p. e0277262. [DOI:10.1371/journal.pone.0277262] [PMID] []
21. Reddy, U.M., et al., Karyotype versus microarray testing for genetic abnormalities after stillbirth. N Engl J Med, 2012. 367(23): p. 2185-93. [DOI:10.1056/NEJMoa1201569] [PMID] []
22. Finley, J., et al., The genomic basis of sporadic and recurrent pregnancy loss: a comprehensive in-depth analysis of 24,900 miscarriages. Reproductive BioMedicine Online, 2022. 45(1): p. 125-134. [DOI:10.1016/j.rbmo.2022.03.014] [PMID]
23. Evaluation and treatment of recurrent pregnancy loss: a committee opinion. Fertil Steril, 2012. 98(5): p. 1103-11. [DOI:10.1016/j.fertnstert.2012.06.048] [PMID]
24. Branch, D.W., M. Gibson, and R.M. Silver, Clinical practice. Recurrent miscarriage. N Engl J Med, 2010. 363(18): p. 1740-7. [DOI:10.1056/NEJMcp1005330] [PMID]
25. Pinborg, A., et al., Congenital anomalies after assisted reproductive technology. Fertil Steril, 2013. 99(2): p. 327-32. [DOI:10.1016/j.fertnstert.2012.12.001] [PMID]
26. Kaltsas, A., et al., Impact of Advanced Paternal Age on Fertility and Risks of Genetic Disorders in Offspring. Genes (Basel), 2023. 14(2). [DOI:10.3390/genes14020486] [PMID] []
27. Harfsheno, M., M. Barati, and A. Roohandeh, First Trimester Screening Tests Pregnancy and Trisomy 13 Syndrome, Sex Chromosome Aneuploidy in Iran: A Cross-Sectional Study. International Journal of Fertility and Sterility, 2023. 17(1): p. 34-39.
28. Sotiriadis, A., et al., ISUOG Practice Guidelines: role of ultrasound in screening for and follow-up of pre-eclampsia. Ultrasound Obstet Gynecol, 2019. 53(1): p. 7-22. [DOI:10.1002/uog.20105] [PMID]
29. de Haan, J., M. Verheecke, and F. Amant, Management of ovarian cysts and cancer in pregnancy. Facts Views Vis Obgyn, 2015. 7(1): p. 25-31.
30. Bloomfield, V., et al., Retrospective Review of Management of Antenatally Diagnosed Ovarian Cysts at the Hospital for Sick Children. J Pediatr Surg, 2024. 59(10): p. 161602. [DOI:10.1016/j.jpedsurg.2024.06.011] [PMID]
31. Corneille, M.G., et al., The use of laparoscopic surgery in pregnancy: evaluation of safety and efficacy. The American journal of surgery, 2010. 200(3): p. 363-367. [DOI:10.1016/j.amjsurg.2009.09.022] [PMID]
32. Shigemi, D., et al., Safety of laparoscopic surgery for benign diseases during pregnancy: a nationwide retrospective cohort study. Journal of minimally invasive gynecology, 2019. 26(3): p. 501-506. [DOI:10.1016/j.jmig.2018.06.008] [PMID]
33. D'Ambrosi, F., et al., Risk of stillbirth in singleton fetuses with advancing gestational age at term: A 10-year experience of late third trimester prenatal screenings of 50,000 deliveries in a referral center in northern Italy. PLoS One, 2023. 18(2): p. e0277262. [DOI:10.1371/journal.pone.0277262] [PMID] []
34. Harfsheno, M., M. Barati, and A. Roohandeh, First Trimester Screening Tests Pregnancy and Trisomy 13 Syndrome, Sex Chromosome Aneuploidy in Iran: A Cross-Sectional Study. Int J Fertil Steril, 2023. 17(1): p. 34-39.
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