Plasentaya Sınırlı Mozaiklik ve İntrauterin Gelişme Geriliği

Plasentaya sınırlı mozaiklik, karyotipi normal olan bir fetusa ait plasentada kromozomu anormal olan bir hücre dizisinin var olmasıdır. Koryon villus örneklemesinde hem normal hem de anöploid hücre dizisi saptanırken, fetal kan veya amniyon sıvısı incelemelerinde sadece normal hücre dizisinin bulunması ile tanı konur. Uniparental dizomi ise bir homolog kromozom çiftinin her ikisinin aynı ebevenyden gelmesine verilen isimdir ve plasentaya sınırlı mozaiklik ile birlikte görülebilir. İdiyopatik intrauterin gelişme geriliği olgularında plasentaya sınırlı mozaiklik prevalansı %15,7 ile %25 arasında değişmektedir. Plasentaya sınırlı mozaiklik aynı zamanda oligohidramniyos, spontan abortus ve fetal kayıp ile de ilişkilendirilmiştir. İntrauterin gelişme geriliği en sık 2,7,15 ve 16 numaralı kromozomlarda görülen plasentaya sınırlı mozaiklik olgularında ve 7,11,14, 15 ve 16 numaralı kromozomlardaki uniparental dizomi olgularında bildirilmiştir. Uniparental dizomi olgularında gelişme geriliğinin plasental mozaiklik nedeniyle mi, yoksa uniparental dizominin kendisinden dolayı mı geliştiği net olarak bilinmemektedir. Bu makalede, konuyla ilgili klinik çalışma ve olgu sunumlarını derleyerek, plasentaya sınırlı mozaiklik ile intrauterin gelişme geriliği arasındaki ilişkiyi özetlemeyi amaçladık.

Anahtar Kelimeler:

Plasentaya sınırlı mozaiklik, Intrauterin gelişme geriliği, Uniparental dizomi

-

Keywords:

-,

PDF

___

1. Stipoljev F, Latin V, Kos M, Miskovic B, Kurjak A. Correlation of confined placental mosaicism with fetal intrauterine growth retardation. A case control study of placentas at delivery. Fetal Diagn Ther 2001;16:4-9. doi: 10.1159/000053871
2. Amor DJ, Neo WT, Waters E, Heussler H, Pertile M, Haliday J. Health and developmental outcome of children following prenatal diagnosis of confined placental mosaicism. Prenat Diagn 2006;26:443-8. doi: 10.1002/pd.1433
3. Hansen WF, Bernard LE, Langlois S, et al. Maternal uniparental disomy of chromosome 2 and confined placental mosicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios. Prenat Diagn 1997;17:443-50. doi: 10.1002/(SICI)1097-0223(199705)17:5<443::AID-PD82>3.0.CO;2-2
4. Lestou VS, Kalousek DK. Confined placental mosiacism and intraterine growth. Arch Dis Child Fetal Neonatal Ed 1998;79:F223-6. doi:10.1136/fn.79.3.F223.
5. Akın H, Özkınay F. Genomik imprinting, uniparental dizomi, mikrodelesyon sendromları. Türkiye Klinikleri J Pediatr Sci 2005;1:61-7.
6. Farra C, Giudicelli B, Pellissier MC, Philip N, Piquet C. Fetoplacental chromosomal discrepancy. Prenat Diagn 2000;20:190-3. doi: 10.1002/(SICI)1097-0223(200003)20:3<190::AID-PD777>3.0.CO;2-A
7. Balmer D, Baumer A, Röthlisberger B, Schinzel A. Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta. Prenat Diagn 1999;19:1061-4. doi: 10.1002/(SICI)1097-0223(199911)19:11<1061::AID-PD687>3.0.CO;2-Q
8. Miura K, Yoshiura K, Miura S, et al. Clinical outcome of infants with confined placental mosaicism and intrauterine growth restriction of unknown cause. Am J Med Genet Part A 2006;140 A:1827-33. doi: 10.1002/ajmg.a.31389
9. Wilkins-Haug L, Roberts DJ, Morton CC. Confined placental mosaicism and inrauterine growth retardation: A case control analysis of placentas at delivery. Am J Obstet Gynecol 1995;172:44-50. doi: 10.1016/0002-9378(95)90082-9.
10. Wilkins-Haug L, Quade B, Morton CC. Confined placental mosiacism as a risk factor among newborns with fetal growth restriction. Prenat Diagn 2006;26:428-32. doi:10.1002/pd.1430
11. Johnson A, Wapner RJ, Davis GH, et al. Mosaicism in chorionic villus sampling: and association with poor perinatal outcome. Obstet Gynecol 1990;74:573-7.
12. Ariel I, Lerer I, Yagel S, Cohen R, Ben-Neriah Z, Abeliovich D. Trisomy 2: Confined placental mosicism in a fetus with intrauterine growth retardation. Prental Diagn 1997;17:180-3. doi: 10.1002/(SICI)1097-0223(199702)17:2<180::AID-PD31>3.0.CO;2
13. Grati FR, Miozzo M, Cassani B, et al. Fetal and placental chromosomal mosiacism revealed by QF-PCR in severe IUGD pregnancies. Placenta 2005;26:10-8. doi:10.1016/j.placenta.2004.04.009
14. Wolstenholme J, Rooney DE, Davison EV. Confined placental mosaicism, IUGR and adverse pregnancy outcome: a controlled retrospective U.K. collaborative survey. Prenat Diagn 1994;14:345-61. doi: 10.1002/pd.1970140505
15. Radealli S, Sala E, Roncaglia N, et al. Severe intrauterine growth restriction and trisomy 15 confined mosiacism: a case report and review of literature. Prenat Diagn 2005;25:140-7. doi: 10.1002/pd.1093
16. Langlois S, Yong SL, Wilson RD, Kwong LC, Kalousek DK. Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7. J Med Genet 1995;32:871-5. doi:10.1136/jmg.32.11.871
17. Kotzot D. Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting. Annelas de Genetique 2004;47:251-60. doi:10.1016/j.anngen.2004.03.006
18. Sanchez JM, de Diaz SL, Panal MJ, et al. Severe fetal malformations associated with trisomy 16 confined to the placenta. Prenat Diagn 1997;17:777-9. doi: 10.1002/(SICI)1097-0223(199708)17:8<777::AID-PD128>3.0.CO;2-H
19. Verwoerd-Dikkeboom CM, van Heesch PN, Koning AH, Galjaard RJ, Exalto N, Steegerds EA. Embryonic delay in growth and development related to confined placetal trisomy 16 mosiacism, diagnosed by ISpace Virtual Reality. Fertil Steril 2008;90:2017.e19-22. doi:10.1016/j.fertnstert.2008.07.1721
20. Robinson WP, Barrett IJ, Bernard L, et al. Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction. Am J Hum Genet 1997;60:917-27.
21. Yong PC, Langlois S, von Dadelszen P, Robinson W. The association between preeclampsia and placental trisomy 16 mosaicism. Prenat Diagn 2006;26:956-61. doi:10.1002/pd.1534
22. Kalousek DK, Langlois S, Barrett I, et al. Uniparental disomy for chromosome 16 in humans. Am J Hum Genet 1993;52:8-16.
23. Astner A, Schwanger E, Caliebe A, Jonat W, Gembruch U. Sonographically detected fetal and placental abnormalities associated with trisomy 16 confined to the placenta. A case report and review of the literature. Prenat Diagn 1998;18:1308-15. doi: 10.1002/(SICI)1097-0223(199812)18:12<1308::AID-PD443>3.0.CO;2-H
24. Garber A, Carlson D, Schreck R, et al. Prenatal diagnosis and dysmorphic findings in mosaic trisomy 16. Prenat Diagn 1994;14:257-66. doi: 10.1002/pd.1970140405
25. Toutain J, Labeau-Gaüzere C, Barnetche T, Horovitz J, Saura R. Confined placental mosaicism and pregnancy outcome: a distinction needs to be made between types 2 and 3. Prenat Diagn 2010;30: 1155-64. doi: 10.1002/pd.2631
26. Gagnon A, Wilson RD, Audibert F, et al. Obstetrical complications associated with abnormal maternal serum markers analyses. J Obstet Gynaecol Can 2008;30:918-49.
27. Robinson WP, Penaherrera MS, Jiang R, et al. Assessing the role of placental trisomy in preeclampsia and intrauterine growth restriction. Prenat Diagn 2010;30:1-8. doi: 10.1002/pd.2409
28. Zimmerman R, Lauper U, Streicher A, Huch R, Huch A. Elevated alpha-fetoprotein and human gonadotropin as a marker for plasental trisomy 16 in the second trimester. Prenat Diagn 1995;15:1121-4. doi: 10.1002/pd.1970151207
29. Wolstenholme J, White I, Sturgiss S, Carter J, Plant N, Goodship JA. Maternal uniparental heterodisomy for chromosome 2: detection through ‘atypical’ maternal AFP/hCG levels, with an update on a previous case. Prenat Diagn 2001;21:813-7. doi: 10.1002/pd.143
30. Bryan J, Peters M, Pritchard G, Healey S, Payton D. A second case of intrauterine growth retardation and primary hypospadias associated with a trisomy 22 placenta but with biparental inheritance of chromosome 22 in the fetus. Prenat Diagn 2002;22:137-40. doi: 10.1002/pd.260
31. Lomax BL, Lestou VS, Barrett IJ, Kalousek DK. Confined placental mosiacism for chromosome 7 detected by comparative genomic hybridization. Prenat Diagn 1998;18:751-6. doi: 10.1002/(SICI)1097-0223(199807)18:7<752::AID-PD313>3.0.CO;2-1
32. Papadogiannakis N, Iwarsson E, Taimi T, Zaphiropoulos PG, Westgren M. Lack of aneuploidy for chromosomes 15,16 and 18 in placentas from small-for-gestational-age liveborn infants. Am J Obstet Gynecol 2008;198:231.e1-231.e7. doi: 10.1016/j.ajog.2007.08.027
33. Tantravahi U, Matsumoto C, Delach J, Craffey A, Smeltzer J, Benn P. Trisomy 16 mosaicism in amniotic fluid cell cultures. Prenat Diagn 1996;16:749-54. doi:10.1002/(SICI)1097-0223(199608)16:8<749::AID-PD935>3.0.CO;2-C