ORIGINAL PAPER
Associations of prenatally detected choroid plexus cysts
with biochemical risk for congenital disorders
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Submission date: 2014-03-16
Acceptance date: 2014-04-23
Publication date: 2014-06-16
Medical Studies 2014;30(2):71-74
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ABSTRACT
Introduction: Choroid plexus cysts are one of the foetus ultrasonography findings that raise parents’ concerns about their child’s health. Usually cysts are found in an estimated 1% all performed ultrasonographies.
Aim of the research: To evaluate the risk of Down syndrome, Edward’s syndrome and neural tube defect when choroid plexus cysts are found.
Material and methods: The risks of Down syndrome, Edward’s syndrome and neural tube defect were calculated by using second-trimester biomarkers (a-fetoprotein, human choriongonadotropin, unconjugated estriol) for patients with choroid plexus cysts. A control group was selected randomly with calculated risks and without any abnormal ultrasonography findings. These risks were compared between the two groups.
Results: Twelve pregnancies with diagnosed choroid plexus cysts were included in this study during the year 2012. Choroid plexus cyst findings during this case/control study have shown that only one case from the test group had progressed to more serious foetal aberrations (Edward’s syndrome); nonetheless, this progression did not influence statistically significant changes in the test and control groups. No statistically significant changes between the risks of disorders according the PRISCA method were observed in the appearance of Down syndrome or neural tube defect.
Conclusions: There is no data that choroid plexus cysts increase the risk of Down syndrome, Edward’s syndrome and neural tube defect.
REFERENCES (10)
1.
Cameron A. Fetal Medicine for the MRCOG and Beyond. 2011; 55.
2.
Gilbert-Barness E. Embryo and fetal pathology: color atlas with ultrasound correlation. University Press, Cambridge 2004; 122.
3.
Stevenson R, Hall J. Human malformations and related anomalies. Association of American Publishers 2006; 698-700.
4.
Queenan JT, Hobbins JC, Spong YC. Protocols for highrisk pregnancies. Wiley-Blackwell 2010; 680.
5.
Reinsch RC. Choroid plexus cysts – association with trisomy: prospective review of 16,059 patients. Am J Obstet Gynecol 1997; 176: 1381-3.
6.
Sahinoglu Z, Uludogan M, Sayar C, et al. Second trimester choroid plexus cysts and trisomy 18. Int J Gynecol Obstet 2004; 85: 24-9.
7.
Sullivan A, Giudice T, Vavelidis F, Thiagarajah S. Choroid plexus cysts: is biochemical testing a valuable adjunct to targeted ultrasonography? Am J Obstet Gynecol 1999; 181: 260-5.
8.
Fong K, Chong K, Toi A, et al. Fetal ventriculomegaly secondary to isolated large choroid plexus cysts: prenatal findings and postnatal outcome. Prenat Diagn 2011; 31: 395-400.
9.
Bromley B, Lieberman E, Benacerraf B. Choroid plexus cysts: not associated with Down syndrome. Ultrasound Obstet Gynecol 1996; 8: 232-5.
10.
Skirton H, Goldsmith L, Jackson L, et al. Offering prenatal diagnostic tests: European guidelines for clinical practice guidelines. Eur J Hum Genet 2013; 22: 1-7.