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: (1308 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
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