⚠ Official Notice: www.ijisrt.com is the official website of the International Journal of Innovative Science and Research Technology (IJISRT) Journal for research paper submission and publication. Please beware of fake or duplicate websites using the IJISRT name.



Intrauterine Fetal Death at 26 Weeks of Amenorrhea Revealing Turner Syndrome (45,X0): A Case Report


Authors : Dr. Dina Houjjaj; Dr. Sara Mouhmouh; Dr. Sara Yasyn; Dr. Fatima Zahra Azraq; Amal Benbella; Bouchaib Allae Eddine; Abdelhai Adibe Filali; Mohammed Hassan Alami; Rachid Bezad

Volume/Issue : Volume 11 - 2026, Issue 5 - May


Google Scholar : https://tinyurl.com/5n8ejym2

Scribd : https://tinyurl.com/mwad6d3m

DOI : https://doi.org/10.38124/ijisrt/26May1537

Note : A published paper may take 4-5 working days from the publication date to appear in PlumX Metrics, Semantic Scholar, and ResearchGate.


Abstract : Turner syndrome (45,X0) is a rare chromosomal aberration characterized by monosomy of the X chromosome, affecting 1 in 2,500 live female births. It is one of the major causes of intrauterine fetal death (IUFD) and second-trimester spontaneous miscarriage. We report the case of a 23-year-old primiparous patient, born from a first-degree consanguineous union, admitted urgently at 26 weeks of amenorrhea for the expulsion of an IUFD. Morphological examination of the fetus revealed signs suggestive of Turner syndrome: cystic nuchal hygroma, generalized anasarca, and a morphological appearance consistent with X monosomy. This case illustrates the importance of antenatal ultrasound follow-up, multidisciplinary management, and genetic counseling in high-risk pregnancies.

Keywords : Turner Syndrome, 45,X0, Intrauterine Fetal Death, Cystic Hygroma, Consanguinity, IUFD, Anasarca, Antenatal Ultrasound.

References :

  1. Bondy CA; Turner Syndrome Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2007;92(1):10–25.
  2. Sybert VP, McCauley E. Turner's syndrome. N Engl J Med. 2004; 351(12):1227–1238.
  3. Gravholt CH, Andersen NH, Conway GS, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome. Eur J Endocrinol. 2017;177(3): G1–G70.
  4. Bianco S, Grier D. Turner syndrome and cardiovascular disease: a review. Curr Opin Cardiol. 2013;28(4):354–359.
  5. Hook EB, Warburton D. Turner syndrome revisited: review of new data supports the hypothesis that all viable 45, X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss. Hum Genet. 2014;133(4):417–424.
  6. Papp C, Beke A, Mezei G, et al. Prenatal diagnosis of Turner syndrome: report on 69 cases. J Ultrasound Med. 2006; 25(6):711–717.
  7. Loscalzo ML. Turner syndrome. Pediatr Rev. 2008;29(7):219–227.
  8. Greenberg F. Nuchal cystic hygroma and fetal Turner syndrome. Am J Med Genet. 1992;44(1):141.
  9. Dolk H, Loane M, Garne E. The prevalence of congenital anomalies in Europe. Adv Exp Med Biol. 2010;686:349–364.
  10. Stumm M, Wegner RD, Bloechle M, et al. Interphase FISH with a 22q11 probe on amniotic fluid cells aids in the prenatal diagnosis of del (22q11) syndrome. Prenat Diagn. 2006;26(7):621–627.

Turner syndrome (45,X0) is a rare chromosomal aberration characterized by monosomy of the X chromosome, affecting 1 in 2,500 live female births. It is one of the major causes of intrauterine fetal death (IUFD) and second-trimester spontaneous miscarriage. We report the case of a 23-year-old primiparous patient, born from a first-degree consanguineous union, admitted urgently at 26 weeks of amenorrhea for the expulsion of an IUFD. Morphological examination of the fetus revealed signs suggestive of Turner syndrome: cystic nuchal hygroma, generalized anasarca, and a morphological appearance consistent with X monosomy. This case illustrates the importance of antenatal ultrasound follow-up, multidisciplinary management, and genetic counseling in high-risk pregnancies.

Keywords : Turner Syndrome, 45,X0, Intrauterine Fetal Death, Cystic Hygroma, Consanguinity, IUFD, Anasarca, Antenatal Ultrasound.

Paper Submission Last Date
30 - June - 2026

SUBMIT YOUR PAPER CALL FOR PAPERS
Video Explanation for Published paper

Never miss an update from Papermashup

Get notified about the latest tutorials and downloads.

Subscribe by Email

Get alerts directly into your inbox after each post and stay updated.
Subscribe
OR

Subscribe by RSS

Add our RSS to your feedreader to get regular updates from us.
Subscribe