Celomic Fluid: Laboratory Workflow for Prenatal Diagnosis of Monogenic Diseases.
Journal
Molecular diagnosis & therapy
ISSN: 1179-2000
Titre abrégé: Mol Diagn Ther
Pays: New Zealand
ID NLM: 101264260
Informations de publication
Date de publication:
03 2022
03 2022
Historique:
accepted:
04
01
2022
pubmed:
18
2
2022
medline:
23
4
2022
entrez:
17
2
2022
Statut:
ppublish
Résumé
Celomic fluid can be considered as an ultra-filtrate of maternal serum, containing a high protein concentration, urea, and many other molecules. It is an important transfer interface and a reservoir of nutrients for the embryo. Celomic fluid contains fetal cells that can be used for prenatal diagnosis of monogenic diseases in an earlier gestational period than villocentesis and amniocentesis. The purpose of this study was to evaluate the characteristics of celomic fluid and to establish a workflow laboratory procedure for very early prenatal diagnosis of monogenic diseases. Three hundred and eighty-five celomatic fluids were collected between the seventh and tenth week of gestation. We sampled 1 mL of celomic fluid in all cases. The embryo-fetal erythroid precursor cells were selected by the anti-CD71 microbead method or by a direct micromanipulator pick-up on the basis of their morphology. We amplified the extracted DNA using a nested polymerase chain reaction. Primers for short tandem repeat amplification were used to perform a quantitative fluorescent polymerase chain reaction evaluation to control maternal contamination. We observed maternal contamination in 95% of celomic fluids with a range between 5 and 100%. No fetal cells were observed in 0.78% of celomic fluids. The number of fetal cells ranged from a few units to several hundred. Isolation of embryo-fetal erythroblasts selected by the micromanipulator made diagnosis feasible in all cases. The selection of fetal cells by a micromanipulator and nested polymerase chain reaction analysis made celomatic fluid suitable for early prenatal diagnosis of monogenic disorders even in the presence of high maternal contamination and few fetal cells. The procedure reported in this study provides the opportunity for the use of celomic fluid sampled by celocentesis as an alternative to chorionic villi sampling and amniocentesis, to allow invasive prenatal diagnosis at a very early stage of pregnancy.
Sections du résumé
BACKGROUND
Celomic fluid can be considered as an ultra-filtrate of maternal serum, containing a high protein concentration, urea, and many other molecules. It is an important transfer interface and a reservoir of nutrients for the embryo. Celomic fluid contains fetal cells that can be used for prenatal diagnosis of monogenic diseases in an earlier gestational period than villocentesis and amniocentesis.
OBJECTIVE
The purpose of this study was to evaluate the characteristics of celomic fluid and to establish a workflow laboratory procedure for very early prenatal diagnosis of monogenic diseases.
METHODS
Three hundred and eighty-five celomatic fluids were collected between the seventh and tenth week of gestation. We sampled 1 mL of celomic fluid in all cases. The embryo-fetal erythroid precursor cells were selected by the anti-CD71 microbead method or by a direct micromanipulator pick-up on the basis of their morphology. We amplified the extracted DNA using a nested polymerase chain reaction. Primers for short tandem repeat amplification were used to perform a quantitative fluorescent polymerase chain reaction evaluation to control maternal contamination.
RESULTS
We observed maternal contamination in 95% of celomic fluids with a range between 5 and 100%. No fetal cells were observed in 0.78% of celomic fluids. The number of fetal cells ranged from a few units to several hundred. Isolation of embryo-fetal erythroblasts selected by the micromanipulator made diagnosis feasible in all cases.
CONCLUSIONS
The selection of fetal cells by a micromanipulator and nested polymerase chain reaction analysis made celomatic fluid suitable for early prenatal diagnosis of monogenic disorders even in the presence of high maternal contamination and few fetal cells. The procedure reported in this study provides the opportunity for the use of celomic fluid sampled by celocentesis as an alternative to chorionic villi sampling and amniocentesis, to allow invasive prenatal diagnosis at a very early stage of pregnancy.
Identifiants
pubmed: 35175567
doi: 10.1007/s40291-022-00577-3
pii: 10.1007/s40291-022-00577-3
doi:
Substances chimiques
DNA
9007-49-2
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
239-252Informations de copyright
© 2022. The Author(s), under exclusive licence to Springer Nature Switzerland AG.
Références
Funayama N, Sato Y, Matsumoto K, Ogura T, Takahashi Y. Coelom formation: binary decision of the lateral plate mesoderm is controlled by the ectoderm. Development. 1999;126(18):4129–38 (PMID: 10457021).
doi: 10.1242/dev.126.18.4129
Santolaya-Forgas J, De Leon-Luis J, D’Ancona RL, Morgan J, Kauffman RP. Evolution of the amniotic sac and extracelomic space as seen by early ultrasound examination. Fetal Diagn Ther. 2003;18(4):262–9. https://doi.org/10.1159/000070807 .
doi: 10.1159/000070807
pubmed: 12835587
Ross C, Boroviak TE. Origin and function of the yolk sac in primate embryogenesis. Nat Commun. 2020;11(1):3760. https://doi.org/10.1038/s41467-020-17575-w .
doi: 10.1038/s41467-020-17575-w
pubmed: 32724077
pmcid: 7387521
Golub R, Cumano A. Embryonic hematopoiesis. Blood Cells Mol Dis. 2013;51(4):226–31. https://doi.org/10.1016/j.bcmd.2013.08.004 .
doi: 10.1016/j.bcmd.2013.08.004
pubmed: 24041595
Palis J, Yoder MC. Yolk-sac hematopoiesis: the first blood cells of mouse and man. Exp Hematol. 2001;29(8):927–36. https://doi.org/10.1016/s0301-472x(01)00669-5 .
doi: 10.1016/s0301-472x(01)00669-5
pubmed: 11495698
De Leon-Luis J, Santolaya-Forgas J. Catalog of solutes measured in paired extraembryonic celomic fluid and maternal serum samples. J Reprod Med. 2006;518(4):311–6 (PMID: 16737027).
Aiello D, Giambona A, Leto F, et al. A Human coelomic fluid investigation: a MS-based analytical approach to prenatal screening. Sci Rep. 2018;8(1):10973. https://doi.org/10.1038/s41598-018-29384-9 .
doi: 10.1038/s41598-018-29384-9
pubmed: 30030477
pmcid: 6054674
Jurkovic D, Jauniaux E, Campbell S, Pandya P, Cardy DL, Nicolaides KH. Coelocentesis: a new technique for early prenatal diagnosis. Lancet. 1993;341(8861):1623–34. https://doi.org/10.1016/0140-6736(93)90761-5 .
doi: 10.1016/0140-6736(93)90761-5
pubmed: 8099993
Pietropolli A, Vicario R, Peconi C, Zampatti S, Quitadamo MC, Capogna MV, et al. Transabdominal coelocentesis as early source of fetal DNA for chromosomal and molecular diagnosis. J Matern Fetal Neonatal Med. 2014;27(16):1656–60. https://doi.org/10.3109/14767058.2013.871697 .
doi: 10.3109/14767058.2013.871697
pubmed: 24298912
Santolaya-Forgas J, Vengalil S, Kushwaha A, Bieniarz A, Fortman J. Assessment of the risk of fetal loss after the coelocentesis procedure using a baboon model. Fetal Diagn Ther. 1998;13(4):257–60. https://doi.org/10.1159/000020850 .
doi: 10.1159/000020850
pubmed: 9784650
Giambona A, Makrydimas G, Leto F, et al. Feasibility of DNA diagnosis of haemoglobinopathies on coelocentesis. Br J Haematol. 2011;153(2):268–72. https://doi.org/10.1111/j.1365-2141.2011.08621.x .
doi: 10.1111/j.1365-2141.2011.08621.x
pubmed: 21385172
Findlay I, Atkinson G, Chambers M, Quirke P, Campbell J, Rutherford A. Rapid genetic diagnosis at 7–9 weeks gestation: diagnosis of sex, single gene defects and DNA fingerprint from coelomic samples. Hum Reprod. 1996;11(11):2548–53. https://doi.org/10.1093/oxfordjournals.humrep.a019158 .
doi: 10.1093/oxfordjournals.humrep.a019158
pubmed: 8981154
Crüger DG, Bruun-Petersen G, Kølvraa S. Turner’s syndrome 45, X found by celocentesis. Prenat Diagn. 1997;17(6):588–9 (PMID: 9203221).
doi: 10.1002/(SICI)1097-0223(199706)17:6<588::AID-PD116>3.0.CO;2-U
Jauniaux E, Cirigliano V, Adinolfi M. Very early prenatal diagnosis on coelomic cells using quantitative fluorescent polymerase chain reaction. Reprod Biomed Online. 2003;6(4):494–8. https://doi.org/10.1016/s1472-6483(10)62173-6 .
doi: 10.1016/s1472-6483(10)62173-6
pubmed: 12831600
Jouannic JM, Costa JM, Ernault P, Bénifla JL. Very early prenatal diagnosis of genetic diseases based on coelomic fluid analysis: a feasibility study. Hum Reprod. 2006;21(8):2185–8. https://doi.org/10.1093/humrep/del143 .
doi: 10.1093/humrep/del143
pubmed: 16769753
Jouannic JM, Tachdjian G, Costa JM, Bénifla JL. Coelomic fluid analysis: the absolute necessity to prove its fetal origin. Reprod Biomed Online. 2008;16(1):148–51. https://doi.org/10.1016/s1472-6483(10)60568-8 .
doi: 10.1016/s1472-6483(10)60568-8
pubmed: 18252062
Giambona A, Damiani G, Leto F, et al. Embryo-fetal erythroid cell selection from celomic fluid allows earlier prenatal diagnosis of hemoglobinopathies. Prenat Diagn. 2016;36(4):375–81. https://doi.org/10.1002/pd.4793 .
doi: 10.1002/pd.4793
pubmed: 26891446
Giambona A, Leto F, Damiani G, et al. Identification of embryo-fetal cells in celomic fluid using morphological and short-tandem repeats analysis. Prenat Diagn. 2016;36(4):973–8. https://doi.org/10.1002/pd.4922 .
doi: 10.1002/pd.4922
pubmed: 27592841
Makrydimas G, Georgiou I, Bouba I, Lolis D, Nicolaides KH. Early prenatal diagnosis by celocentesis. Ultrasound Obstet Gynecol. 2004;23(5):482–5. https://doi.org/10.1002/uog.1046 .
doi: 10.1002/uog.1046
pubmed: 15133800
Giambona A, Leto F, Passarello C, Vinciguerra M, Cigna V, Schillaci G, et al. Fetal aneuploidy diagnosed at celocentesis for early prenatal diagnosis of congenital hemoglobinopathies. Acta Obstet Gynecol Scand. 2018;97(3):312–21. https://doi.org/10.1111/aogs.13287 .
doi: 10.1111/aogs.13287
pubmed: 29292496
Cirigliano V, Voglino G, Cañadas MP, et al. Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR: assessment on 18,000 consecutive clinical samples. Mol Hum Reprod. 2004;10(11):839–46. https://doi.org/10.1093/molehr/gah108 .
doi: 10.1093/molehr/gah108
pubmed: 15361554
Giambona A, Damiani G, Vinciguerra M, Jakil C, Cannata M, Cassarà F, et al. Incidence of haemoglobinopathies in Sicily: the impact of screening and prenatal diagnosis. Int J Clin Pract. 2015;69(10):1129–38. https://doi.org/10.1111/ijcp.12628 .
doi: 10.1111/ijcp.12628
pubmed: 25727926
Rudbeck L, Dissing J. Rapid, simple alkaline extraction of human genomic DNA from whole blood, buccal epithelial cells, semen and forensic stains for PCR. Biotechniques. 1998;25(4):588–90. https://doi.org/10.2144/98254bm09 .
doi: 10.2144/98254bm09
pubmed: 9793639
Vrettou C, Kakourou G, Mamas T, Traeger-Synodinos J. Prenatal and preimplantation diagnosis of hemoglobinopathies. Int J Lab Hematol. 2018;40(1):74–8. https://doi.org/10.1111/ijlh.12823 .
doi: 10.1111/ijlh.12823
pubmed: 29741247
Traeger-Synodinos J, Harteveld CL, Old JM, Petrou M, Galanello R, Giordano P, et al. EMQN best practice guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies. Eur J Hum Genet. 2015;23(4):426–37. https://doi.org/10.1038/ejhg.2014.131 .
doi: 10.1038/ejhg.2014.131
pubmed: 25052315
Makrydimas G, Damiani G, Jakil C, et al. Celocentesis for early prenatal diagnosis of hemoglobinopathy. Ultrasound Obstet Gynecol. 2020;56(5):672–7. https://doi.org/10.1002/uog.22059 .
doi: 10.1002/uog.22059
pubmed: 32339311
Pandya P, Snijders RJM, Psara N, Hibert L, Nicolaides KH. The prevalence of non-viable pregnancy at 10–13 weeks of gestation. Ultrasound Obstet Gynecol. 1996;7(3):170–3. https://doi.org/10.1046/j.1469-0705.1996.07030170.x .
doi: 10.1046/j.1469-0705.1996.07030170.x
pubmed: 8705407
Casikar I, Reid S, Rippey J, Condous G. Redefining first trimester miscarriage. Aust N Z J Obstet Gynaecol. 2012;52(6):597–8. https://doi.org/10.1111/ajo.12022 .
doi: 10.1111/ajo.12022
pubmed: 23216326
Jurkovic D, Overton C, Bender-Atik R. Diagnosis and management of first trimester miscarriage. BMJ. 2013;19:346. https://doi.org/10.1136/bmj.f3676 .
doi: 10.1136/bmj.f3676