Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Tytuł pozycji:

Trisomy 8 mosaicism in the placenta: A Danish cohort study of 37 cases and a literature review.

Tytuł:
Trisomy 8 mosaicism in the placenta: A Danish cohort study of 37 cases and a literature review.
Autorzy:
Thomsen SH; Center for Fetal Diagnostics, Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark.
Lund ICB; Center for Fetal Diagnostics, Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Bache I; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Becher N; Center for Fetal Diagnostics, Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Vogel I; Center for Fetal Diagnostics, Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Źródło:
Prenatal diagnosis [Prenat Diagn] 2021 Mar; Vol. 41 (4), pp. 409-421. Date of Electronic Publication: 2020 Dec 18.
Typ publikacji:
Journal Article; Review
Język:
English
Imprint Name(s):
Original Publication: Chichester, [Sussex]; New York : Wiley, c1981-
MeSH Terms:
Placenta/*physiopathology
Trisomy/*diagnosis
Uniparental Disomy/*diagnosis
Adult ; Chorionic Villi Sampling/methods ; Chromosomes, Human, Pair 8 ; Cohort Studies ; Denmark/epidemiology ; Female ; Humans ; Mosaicism ; Placenta/abnormalities ; Pregnancy ; Registries/statistics & numerical data ; Retrospective Studies ; Trisomy/physiopathology ; Uniparental Disomy/physiopathology
References:
Firth HV , Hurst JA , Hall JG , eds. Chromosomal mosaicism - prenatal. Oxford Desk Reference: Clinical Genetics. Oxford, England: Oxford University Press; 2005:516.
Webb AL , Wolstenholme J , Evans J , Macphail S , Goodship J . Prenatal diagnosis of mosaic trisomy 8 with investigations of the extent and origin of trisomic cells. Prenat Diagn. 1998;18(7):737-741.
James RS , Jacobs PA . Molecular studies of the aetiology of trisomy 8 in spontaneous abortions and the liveborn population. Hum Genet. 1996;97(3):283-286.
Nicolaidis P , Petersen MB . Origin and mechanisms of non-disjunction in human autosomal trisomies. Hum Reprod. 1998;13(2):313-319.
Nicolaidis P , von Beust G , Bugge M , et al. Analysis of the origin of the extra chromosome in trisomy 8 in 4 cases of spontaneous abortions. Fetal Diagn Ther. 1998;13(1):42-45.
Karadima G , Bugge M , Nicolaidis P , et al. Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism. Eur J Hum Genet. 1998;6(5):432-438.
Wolstenholme J . Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16, and 22: their incidence, likely origins, and mechanisms for cell lineage compartmentalization. Prenat Diagn. 1996;16(6):511-524.
Valind A , Pal N , Asmundsson J , Gisselsson D , Holmquist Mengelbier L . Confined trisomy 8 mosaicism of meiotic origin: a rare cause of aneuploidy in childhood cancer. Genes Chromosomes Cancer. 2014;53(7):634-638.
Baidas S , Chen TJ , Kolev V , et al. Constitutional trisomy 8 mosaicism due to meiosis II non-disjunction in a phenotypically normal woman with hematologic abnormalities. Am J Med Genet A. 2004;124a(4):383-387.
Cassina M , Calo A , Salviati L , Alghisi A , Montaldi A , Clementi M . Prenatal detection of trisomy 8 mosaicism: Pregnancy outcome and follow up of a series of 17 consecutive cases. Eur J Obstet Gynecol Reprod Biol. 2018;221:23-27.
Firth HV, Hurst JA, Hall JG. Trisomy 8 mosaicism. In: Firth HV , Hurst JA , Hall JG , eds. Oxford Desk Reference: Clinical Genetics. Oxford, England: Oxford University Press; 2005:530.
Maserati E , Aprili F , Vinante F , et al. Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases. Genes Chromosomes Cancer. 2002;33(1):93-97.
Hasle H , Clausen N , Pedersen B , Bendix-Hansen K . Myelodysplastic syndrome in a child with constitutional trisomy 8 mosaicism and normal phenotype. Cancer Genet Cytogenet. 1995;79(1):79-81.
Mercier S , Bresson JL . Analysis of chromosomal equipment in spermatozoa of a 46,XY/47,XY/+8 male by means of multicolour fluorescent in situ hybridization: confirmation of a mosaicism and evaluation of risk for offspring. Hum Genet. 1997;99(1):42-46.
Danish Cytogenetic Central Registry. DCCR's historie. 2019. https://www.auh.dk/siteassets/afdelinger/klinisk-genetisk-afdeling/dccr/pdf/historie_okt2019.pdf. Accessed January 22, 2020.
Danish Cytogenetic Central Registry. Antal praenatale undersøgelser efter Amnion og CVS 1970-2018. 2019. https://www.auh.dk/siteassets/afdelinger/klinisk-genetisk-afdeling/dccr/pdf/pn-am-cvs_1970-2018.pdf. Accessed January 22, 2020.
Ekelund CK , Petersen OB , Skibsted L , et al. First-trimester screening for trisomy 21 in Denmark: implications for detection and birth rates of trisomy 18 and trisomy 13. Ultrasound Obstet Gynecol. 2011;38(2):140-144.
Lou S , Petersen OB , Jorgensen FS , et al. National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in 1973-2016 in Denmark. Acta Obstet Gynecol Scand. 2018;97(2):195-203.
Sundhedsstyrelsen. Retningslinjer for fosterdiagnostik - praenatal information, risikovurdering, rådgivning og diagnostik. 2017. https://www.sst.dk/da/sundhed-og-livsstil/graviditet-og-foedsel/~/media/DF9E4D6167154966800B7ACC8B7F2B59.ashx. Accessed January 21, 2020.
Vogel I , Petersen OB , Christensen R , Hyett J , Lou S , Vestergaard EM . Chromosomal microarray as primary diagnostic genomic tool for pregnancies at increased risk within a population-based combined first-trimester screening program. Ultrasound Obstet Gynecol. 2018;51(4):480-486.
National Committee on Health Research Ethics. What to notify? 2019. http://en.nvk.dk/how-to-notify/what-to-notify. Accessed March 10, 2020.
Standarder for ansvarlig forskningspraksis ved Health. https://health.medarbejdere.au.dk/fileadmin/www.health.au.dk/Medarbejdere.health.au.dk/Forskerstoette/Standarder_for_ansvarlig_forskningspraksis_Health_26.9.2019.pdf. Accessed March 10, 2020.
Wohlin C. Guidelines for snowballing in systematic literature studies and a replication in software engineering. Paper presented at: Proceedings of the 18th International Conference on Evaluation and Assessment in Software Engineering; May 2014; London, England.
Hahnemann JM , Vejerslev LO . European collaborative research on mosaicism in CVS (EUCROMIC)-fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy. Am J Med Genet. 1997;70(2):179-187.
Klein J , Graham JM Jr , Platt LD , Schreck R . Trisomy 8 mosaicism in chorionic villus sampling: case report and counselling issues. Prenat Diagn. 1994;14(6):451-454.
Miller K , Arslan-Kirchner A , Schulze B , et al. Mosaicism in trisomy 8: phenotype differences according to tissular repartition of normal and trisomic clones. Ann Genet. 1997;40(3):181-184.
Rodriguez MJ , Moreno-Cid M , Rubio A , et al. Trisomy 8 mosaicism a controversial prenatal diagnosis. J Obstet Gynaecol. 2013;33(2):204-205.
Saks E , McCoy MC , Damron J , et al. Confined placental mosaicism for trisomy 8 and intra-uterine growth retardation. Prenat Diagn. 1998;18(11):1202-1204.
Camurri L , Chiesi A . A three-year follow-up on a child with low level trisomy 8 mosaicism which was diagnosed prenatally. Prenat Diagn. 1991;11(1):59-62.
Lund ICB , Becher N , Christensen R , et al. Prevalence of mosaicism in uncultured chorionic villus samples after chromosomal microarray and clinical outcome in pregnancies affected by confined placental mosaicism. Prenat Diagn. 2020;40(2):244-259.
Nguyen-Nielsen M , Svensson E , Vogel I , Ehrenstein V , Sunde L . Existing data sources for clinical epidemiology: Danish registries for studies of medical genetic diseases. Clin Epidemiol. 2013;5:249-262.
Hulley BJ , Hummel M , Cook LL , Boyd BK , Wenger SL . Trisomy 8 mosaicism: selective growth advantage of normal cells vs. growth disadvantage of trisomy 8 cells. Am J Med Genet A. 2003;116A(2):144-146.
Chen CP , Su YN , Chern SR , et al. Prenatal diagnosis of trisomy 8 mosaicism. Taiwan J Obstet Gynecol. 2012;51(4):666-668.
Ballif BC , Rorem EA , Sundin K , et al. Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A. 2006;140(24):2757-2767.
Shaffer LG , Kashork CD , Saleki R , et al. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr. 2006;149(1):98-102.
Chen CP , Chen M , Pan YJ , et al. Prenatal diagnosis of mosaic trisomy 8: clinical report and literature review. Taiwan J Obstet Gynecol. 2011;50(3):331-338.
Hanna JS , Neu RL , Barton JR . Difficulties in prenatal detection of mosaic trisomy 8. Prenat Diagn. 1995;15(12):1196-1197.
Southgate WM , Wagner CL , Shields SM , Cantú ES , Pai GS . Mosaic trisomy 8: a cautionary note regarding missed antenatal diagnosis. J Perinatol: official journal of the California Perinatal Association. 1998;18(1):78-80.
Berry SM , Stone J , Norton ME , et al. Fetal blood sampling. Am J Obstet Gynecol. 2013;209(3):170-180.
Tongsong T , Wanapirak C , Kunavikatikul C , Sirirchotiyakul S , Piyamongkol W , Chanprapaph P . Cordocentesis at 16-24 weeks of gestation: experience of 1320 cases. Prenat Diagn. 2000;20(3):224-228.
Liao C , Wei J , Li Q , Li L , Li J , Li D . Efficacy and safety of cordocentesis for prenatal diagnosis. Int J Gynaecol Obstet. 2006;93(1):13-17.
Tanvisut R , Wanapirak C , Piyamongkol W , et al. Cordocentesis-associated fetal loss and risk factors: experience of 6650 cases from a single center. Ultrasound Obstet Gynecol. 2020;56:664-671.
Brison N , Neofytou M , Dehaspe L , et al. Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing. Prenat Diagn. 2018;38(4):258-266.
Van Opstal D , Eggenhuizen GM , Joosten M , et al. Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast. Prenat Diagn. 2020;40(10):1338-1342.
Benn P , Malvestiti F , Grimi B , Maggi F , Simoni G , Grati FR . Rare autosomal trisomies: comparison of detection through cell-free DNA analysis and direct chromosome preparation of chorionic villus samples. Ultrasound Obstet Gynecol. 2019;54(4):458-467.
de Pater JM , Schuring-Blom GH , Nieste-Otter MA , et al. Trisomy 8 in chorionic villi-unpredictable results in follow-up. Prenat Diagn. 2000;20(5):435-437.
Schneider M , Klein-Vogler U , Tomiuk J , Schliephacke M , Leipold M , Enders H . Pitfall: amniocentesis fails to detect mosaic trisomy 8 in a male newborn. Prenat Diagn. 1994;14(7):651-652.
Grati FR . Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis. J Clin Med. 2014;3(3):809-837.
Campbell S , Mavrides E , Prefumo F , Presti F , Carvalho JS . Prenatal diagnosis of mosaic trisomy 8 in a fetus with normal nuchal translucency thickness and reversed end-diastolic ductus venosus flow. Ultrasound Obstet Gynecol. 2001;17(4):341-343.
Guichet A , Briault S , Toutain A , et al. Prenatal diagnosis of trisomy 8 mosaicism in CVS after abnormal ultrasound findings at 12 weeks. Prenat Diagn. 1995;15(8):769-772.
van Haelst MM , Van Opstal D , Lindhout D , Los FJ . Management of prenatally detected trisomy 8 mosaicism. Prenat Diagn. 2001;21(12):1075-1078.
Schubert R , Raff R , Schwanitz G . Molecular-cytogenetic investigations of ten term placentae in cases of prenatally diagnosed mosaicism. Prenat Diagn. 1996;16(10):907-913.
Turchetti D , Pompilii E , Magrini E , et al. Persistence of a monosomic cell line in a fetus with mosaic trisomy 8. Am J Med Genet A. 2011;155a(11):2791-2794.
Torring N , Petersen OB , Becher N , et al. First trimester screening for other trisomies than trisomy 21, 18, and 13. Prenat Diagn. 2015;35(6):612-619.
Wang BB , Rubin CH , Williams J 3rd. Mosaicism in chorionic villus sampling: an analysis of incidence and chromosomes involved in 2612 consecutive cases. Prenat Diagn. 1993;13(3):179-190.
No Authors. Cytogenetic analysis of chorionic villi for prenatal diagnosis: an ACC collaborative study of U.K. data. Association of Clinical Cytogeneticists Working Party on Chorionic Villi in Prenatal Diagnosis. Prenat Diagn. 1994;14(5):363-379.
Green JE , Dorfmann A , Jones SL , Bender S , Patton L , Schulman JD . Chorionic villus sampling: experience with an initial 940 cases. Obstet Gynecol. 1988;71(2):208-212.
Johnson A , Wapner RJ , Davis GH , Jackson LG . Mosaicism in chorionic villus sampling: an association with poor perinatal outcome. Obstet Gynecol. 1990;75(4):573-577.
Kalousek DK , Howard-Peebles PN , Olson SB , et al. Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism. Prenat Diagn. 1991;11(10):743-750.
Ledbetter DH , Zachary JM , Simpson JL , et al. Cytogenetic results from the U.S. Collaborative Study on CVS. Prenat Diagn. 1992;12(5):317-345.
Leschot NJ , Schuring-Blom GH , Van Prooijen-Knegt AC , et al. The outcome of pregnancies with confined placental chromosome mosaicism in cytotrophoblast cells. Prenat Diagn. 1996;16(8):705-712.
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(4):917-927.
Teshima IE , Kalousek DK , Vekemans MJ , et al. Canadian multicenter randomized clinical trial of chorion villus sampling and amniocentesis. chromosome mosaicism in CVS and amniocentesis samples. Prenat Diagn. 1992;12(5):443-466.
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(5):345-361.
Wang BT , Peng W , Cheng KT , et al. Chorionic villi sampling: laboratory experience with 4,000 consecutive cases. Am J Med Genet. 1994;53(4):307-316.
Miny P , Hammer P , Gerlach B , et al. Mosaicism and accuracy of prenatal cytogenetic diagnoses after chorionic villus sampling and placental biopsies. Prenat Diagn. 1991;11(8):581-589.
Hogge WA , Schonberg SA , Golbus MS . Chorionic villus sampling: experience of the first 1000 cases. Am J Obstet Gynecol. 1986;154(6):1249-1252.
Camurri L , Caselli L , Manenti E . True mosaicism and pseudomosaicism in second trimester fetal karyotyping. A case of mosaic trisomy 8. Prenatal diagnosis. 1988;8(2):168.
Swisshelm K , Rodriguez ML , Luthy D , Salk D , Norwood T . Antenatal diagnosis of mosaic trisomy 8 confirmed in fetal tissues. Clin Genet. 1981;20(4):276-280.
Sherer DM , Dalloul M , Pinard V , Sheu J , Abulafia O . Fetal trisomy 8 mosaicism associated with truncus arteriosus Type I. Ultrasound Obstet Gynecol. 2017;50(4):541-542.
Sheridan E , Williams J , Caine A , Morgan R , Mason G , Mueller RF . Counselling implications of chromosomal abnormalities other than trisomy 21 detected through a maternal serum screening programme. Br J Obstet Gynaecol. 1997;104(1):42-45.
Gosden C , Nicolaides KH , Rodeck CH . Fetal blood sampling in investigation of chromosome mosaicism in amniotic fluid cell culture. Lancet (London, England). 1988;1(8586):613-617.
Hsu LY , Perlis TE . United States survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis. Prenat Diagn. 1984;4(7):97-130.
Hsu LY , Yu MT , Neu RL , et al. Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations. Prenat Diagn. 1997;17(3):201-242.
Iwatani S , Takeoka E , Mizobuchi M , et al. Trisomy 8 mosaicism with pyloric atresia and situs ambiguous. Pediatr Int. 2014;56(6):938-939.
Vekemans M , Perry TB , Hamilton E . Chromosomal mosaicism on amniocentesis: an indication for fetoscopy? N Engl J Med. 1981;304(1):52-53.
Welborn JL , Lewis JP . Analysis of mosaic states in amniotic fluid using the in-situ colony technique. Clin Genet. 1990;38(1):14-20.
Worton RG , Stern R . A Canadian collaborative study of mosaicism in amniotic fluid cell cultures. Prenat Diagn. 1984;4(7):131-144.
Crandall BF , Lebherz TB , Rubinstein L , et al. Chromosome findings in 2,500 second trimester amniocenteses. Am J Med Genet. 1980;5(4):345-356.
Gun I , Akpak YK , Mungen E . Common sonographic characteristics of trisomy 8 mosaicism. Int J Gynaecol Obstet. 2012;119(1):85-86.
SCR Disease Name:
Chromosome 8, mosaic trisomy
Entry Date(s):
Date Created: 20201130 Date Completed: 20211210 Latest Revision: 20211214
Update Code:
20240105
DOI:
10.1002/pd.5875
PMID:
33251614
Czasopismo naukowe
Objective: To evaluate the risk of fetal involvement when trisomy 8 mosaicism (T8M) is detected in chorionic villus samples (CVS).
Methods: A retrospective descriptive study of registered pregnancies in Denmark with T8M in CVS identified through a database search and a review of published cases of T8M found through a systematic literature search and inclusion of cross references. Pregnancies with T8M in CVS and no additional numerical chromosomal aberrations were included.
Results: A total of 37 Danish cases and 60 published cases were included. T8M detected in a CVS was associated with fetal involvement in 18 out of 97 pregnancies (18.6% [95%CI: 11.4-27.7]). Eight out of 70 (11.4% [95%CI: 5.1-21.3]) interpreted prenatally to be confined placental mosaicism (CPM) were subsequently found to be true fetal mosaicisms (TFM).
Conclusion: T8M detected in CVS poses a significant risk of fetal involvement, and examination of amniotic fluid (AF) and/or fetal tissue should be offered. However, a normal result of AF still has a considerable residual risk of fetal involvement. Genetic counselling at an early gestational age is essential, and follow-up ultrasonography should be performed to predict fetal involvement if possible.
(© 2020 John Wiley & Sons, Ltd.)

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies