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Review

Recommendations for pregnancy in Fanconi anemia

ORCID Icon, ORCID Icon, , , & ORCID Icon
Pages 1403-1409 | Received 04 Jan 2021, Accepted 01 Apr 2021, Published online: 12 Apr 2021

References

  • Vaz F, Hanenberg H, Schuster B, et al. Mutation of the RAD51C gene in a Fanconi anemia-like disorder. Nat Genet. 2010;42(5):406–409. .
  • Auerback AD. Fanconi anemia diagnosis and the diepoxybutane (DEB) test. Exp Hematol. 1993;21:731–735.
  • Auerbach AD. Fanconi anemia and its diagnosis. Mutat Res. 2009;668(1):4–10. .
  • Stoepker C, Hain K, Schuster B, et al. SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype. Nat Genet. 2011;43(2):138–141. .
  • Gille JJ, Floor K, Kerkhoven L, et al. Diagnosis of Fanconi anemia: mutation analysis by multiplex ligation-dependent probe amplification and PCR-based Sanger sequencing. Anemia. 2012;2012:1–13.
  • Giampietro PF, Adler-Brecher B, Verlander PC, et al. The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi anemia registry. Pediatrics. 1993;91(6):111–1120.
  • Auerbach AD, Rogatko A, Schroeder-Kurth TM. International Fanconi anemia registry: relation of clinical symptoms to diepoxybutane sensitivity. Blood. 1989;73(2):391–396.
  • Russo R, Marra R, Rosato BE, et al. Genetics and genomics approaches for diagnosis and research into hereditary anemias. Front Physiol. 2020;11:1718. .
  • Ceccaldi R, Parmar K, Mouly E, et al. Bone marrow failure in Fanconi anemia is triggered by an exacerbated p53/p21 DNA damage response that impairs hematopoietic stem and progenitor cells. Cell Stem Cell. 2012;11(1):36–49. .
  • Kutler DI, Singh B, Satagopan J, et al., A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood. 101(4): 1249–1256. 2003. .
  • Nabhan SK, Bitencourt MA, Duval M, et al. Fertility recovery and pregnancy after allogeneic hematopoietic stem cell transplantation in Fanconi anemia patients. Haematologica. 2010;95(10):1783–1787. .
  • Alter BP, Frissora CL, Halpéirin DS, et al. Fanconi’s anaemia and pregnancy. Br J Haematol. 1991;77(3):410–418.
  • Sklavos MM, Giri N, Stratton P, et al. Anti-Müllerian hormone deficiency in females with Fanconi anemia. J Clin Endocrinol Metab. 2014;99(5):1608–1614.
  • Ananth CV, Friedman AM, Keyes KM, et al. Primary and repeat cesarean deliveries: a population-based study in the United States, 1979-2010. Epidemiology. 2017;28(4):567–574.
  • Scarr C, Treharne A, Conner C, et al. PMM. 57 Fanconi anaemia complicating pregnancy–treatment and management of critical thrombocytopenia and anaemia. Arch Dis Childhood-Fetal Neonatal Ed. 2014;99(Suppl 1):A141–A2.
  • Dalle JH, Huot C, Duval M, et al. Successful pregnancies after bone marrow transplantation for Fanconi anemia. Bone Marrow Transplant. 2004;34(12):1099–1100. .
  • Goi K, Sugita K, Nakamura M, et al. Natural pregnancy and delivery after allogeneic bone marrow transplantation in a Fanconi anaemia patient. Br J Haematol. 2006;135(3):410–411. .
  • Morris ES, Darbyshire P, Fairlie F, et al. Two natural pregnancies following allogeneic transplantation for Fanconi anaemia. Br J Haematol. 2008;140(1):113.
  • Yabe H, Koike T, Shimizu T, et al. Natural pregnancy and delivery after unrelated bone marrow transplantation using fludarabine-based regimen in a Fanconi anemia patient. Int J Hematol. 2010;91(2):350–351. .
  • Atashkhoei S, Fakhari S, Bilehjani E, et al. Pregnancy after allogeneic hematopoietic stem cell transplantation in a Fanconi anemia patient. Int Med Case Rep J. 2017;10:11–14.
  • Giri N, Stratton P, Savage SA, et al. Pregnancies in patients with inherited bone marrow failure syndromes in the NCI cohort. Blood. 2017;130(14):1674–1676.
  • Van Buchem FS, Samsom N, Nieweg HO. Familial pancytopenia with congenital abnormalities (Fanconi syndrome). Acta Med Scand. 1954;149(1):19–29.
  • Esparza A, Thompson WR. Familial hypoplastic anemia with multiple congenital anomalies (Fanconi’s syndrome)–report of three cases. Cases presented are of two sisters and a female cousin with complete clinical and post mortem findings. R I Med J. 1966;49(2):103–110.
  • Swift MR, Hirschhorn K. Fanconi’s anemia. Inherited susceptibility to chromosome breakage in various tissues. Ann Intern Med. 1966;65(3):496–503.
  • Schroeder TM, Tilgen D, Kruger J, et al. Formal genetics of Fanconi’s anemia. Hum Genet. 1976;32(3):257–288.
  • Kew MC, Van Coller B, Prowse CM, et al. Occurrence of primary hepatocellular cancer and peliosis hepatis after treatment with androgenic steroids. S Afr Med J. 1976;50(32):1233–1237.
  • Dosik H, Steier W, Lubiniecki A. Inherited aplastic anaemia with increased endoreduplications: a new syndrome of Fanconi’s anaemia variant? Br J Haematol. 1979;41(1):77–82.
  • Helmerhorst FM, Heaton DC, Crossen PE, et al. Familial thrombocytopenia associated with platelet autoantibodies and chromosome breakage. Hum Genet. 1984;65(3):252–256.
  • Bauters F, Jouet JP, Lacroix D, et al. [Fanconi’s disease with late disclosure during pregnancy. Cytogenetic study]. Presse Med. 1984;13(41):2519–2520.
  • Carbone P, Barbata G, Mirto S, et al. Inherited aplastic anemia with abnormal clones in bone marrow and increased endoreduplication in peripheral lymphocytes. Cancer Genet Cytogenet. 1984;13(3):259–266.
  • Zakut H, Lotan M, Virag I. [Pregnancy in Fanconi’s anemia]. Harefuah. 1984;107(9):238–239.
  • Sorbi F, Mecacci F, Di Filippo A, et al. Pregnancy in fanconi anaemia with bone marrow failure: a case report and review of the literature. BMC Pregnancy Childbirth. 2017;17(1):53.
  • Gerfaud-Valentin M, Chaudot F, Seve P. A refractory bicytopenia in a pregnant woman. Eur J Intern Med. 2019;67:e1–e2.
  • Zierhut HA, Tryon R, Sanborn EM. Genetic counseling for Fanconi anemia: crosslinking disciplines. J Genet Couns. 2014;23(6):910–921.
  • Frohnmayer DFL, Guinan E, et al. Fanconi anemia: guidelines for diagnosis and management. 4th. Eugene; 2014. Available from: https://www.fanconi.org/images/uploads/other/FA_Guidelines_4th_Edition_Revised_Names_in_Appendix.pdf.
  • Kotera A, Miyazaki N, Hashimoto M, et al. [Anesthetic management of the cesarean section in a patient with aplastic anemia]. Masui. 2010;59(6):776–779.
  • Van Veen JJ, Nokes TJ, Makris M. The risk of spinal haematoma following neuraxial anaesthesia or lumbar puncture in thrombocytopenic individuals. Br J Haematol. 2010;148(1):15–25.
  • Calado RT, Cle DV. Treatment of inherited bone marrow failure syndromes beyond transplantation. Hematology Am Soc Hematol Educ Program. 2017;2017(1):96–101.
  • Zeidler C, Grote UA, Nickel A, et al. Outcome and management of pregnancies in severe chronic neutropenia patients by the European branch of the severe chronic neutropenia international registry. Haematologica. 2014;99(8):1395–1402. .
  • Mehta PA, Tolar J. Fanconi anemia. In: Adam MP, Ardinger HH, Pagon RA, et al. editors. GeneReviews((R)). Seattle (WA); 1993.
  • Adam M, Ardinger H, Pagon R, et al. Diamond-blackfan anemia–GeneReviews®.
  • Davies JM, Lewis MP, Wimperis J, et al. Review of guidelines for the prevention and treatment of infection in patients with an absent or dysfunctional spleen: prepared on behalf of the british committee for standards in haematology by a working party of the haemato-oncology task force. Br J Haematol. 2011;155(3):308–317. .
  • Rubin LG, Schaffner W. Clinical practice. Care of the asplenic patient. N Engl J Med. 2014;371(4):349–356.
  • Vlachos A, Ball S, Dahl N, et al. Diagnosing and treating diamond blackfan anaemia: results of an international clinical consensus conference. Br J Haematol. 2008;142(6):859–876. .
  • Shalev H, Perez Avraham G, Hershkovitz R, et al. Pregnancy outcome in congenital dyserythropoietic anemia type I. Eur J Haematol. 2008;81(4):317–321. .
  • Cappellini M-D, Cohen A, Porter J, et al. Guidelines for the management of transfusion dependent thalassaemia (TDT). TIF publication; 2014. p. 20.
  • Masserot-Lureau C, Adoui N, Degos F, et al. Incidence of liver abnormalities in Fanconi anemia patients. Am J Hematol. 2012;87(5):547–549. .
  • Giri N, Batista DL, Alter BP, et al. Endocrine abnormalities in patients with Fanconi anemia. J Clin Endocrinol Metab. 2007;92(7):2624–2631.
  • Rogers BB, Bloom SL, Buchanan GR. Autosomal dominantly inherited diamond-blackfan anemia resulting in nonimmune hydrops. Obstet Gynecol. 1997;89(5 Pt 2):805–807.
  • Elder DA, D’Alessio DA, Eyal O, et al. Abnormalities in glucose tolerance are common in children with fanconi anemia and associated with impaired insulin secretion. Pediatr Blood Cancer. 2008;51(2):256–260. .
  • Jacob R, Venkatesan T. Anesthesia and Fanconi anemia: a case report and review of literature. Pediatr Anesthesia. 2006;16(9):981–985.
  • Berger R, Bernheim A, Gluckman E, et al. In vitro effect of cyclophosphamide metabolites on chromosomes of Fanconi anaemia patients. Br J Haematol. 1980;45(4):565–568.
  • Salooja N, Szydlo R, Socie G, et al. Pregnancy outcomes after peripheral blood or bone marrow transplantation: a retrospective survey. Lancet. 2001;358(9278):271–276. .
  • Sanders JE, Hawley J, Levy W, et al. Pregnancies following high-dose cyclophosphamide with or without high-dose busulfan or total-body irradiation and bone marrow transplantation. 1996.
  • Nakagawa K, Kanda Y, Yamashita H, et al. Ovarian shielding allows ovarian recovery and normal birth in female hematopoietic SCT recipients undergoing TBI. Bone Marrow Transplant. 2008;42(10):697–699. .
  • Dalle J, Huot C, Duval M, et al. Successful pregnancies after bone marrow transplantation for Fanconi anemia. Bone Marrow Transplant. 2004;34(12):1099–1100.
  • Yabe H, Koike T, Shimizu T, et al. Natural pregnancy and delivery after unrelated bone marrow transplantation using fludarabine-based regimen in a Fanconi anemia patient. Int J Hematol. 2010;91(2):350.
  • Guardiola P, Pasquini R, Dokal I, et al. Outcome of 69 allogeneic stem cell transplantations for Fanconi anemia using HLA-matched unrelated donors: a study on behalf of the European group for blood and marrow transplantation. Blood J Am Soc Hematol. 2000;95(2):422–429.
  • Tan PL, Wagner JE, Auerbach AD, et al. Successful engraftment without radiation after fludarabine‐based regimen in Fanconi anemia patients undergoing genotypically identical donor hematopoietic cell transplantation. Pediatr Blood Cancer. 2006;46(5):630–636.
  • Wagner JE, Eapen M, MacMillan ML, et al. Unrelated donor bone marrow transplantation for the treatment of Fanconi anemia. Blood. 2007;109(5):2256–2262.
  • Chaudhury S, Auerbach AD, Kernan NA, et al. Fludarabine‐based cytoreductive regimen and T‐cell‐depleted grafts from alternative donors for the treatment of high‐risk patients with Fanconi anaemia. Br J Haematol. 2008;140(6):644–655.
  • Motwani J, Lawson S, Darbyshire P. Successful HSCT using nonradiotherapy-based conditioning regimens and alternative donors in patients with Fanconi anaemia–experience in a single UK centre. Bone Marrow Transplant. 2005;36(5):405–410.
  • Alter BP, Frissora CL, Halperin DS, et al. Fanconi’s anaemia and pregnancy. Br J Haematol. 1991;77(3):410–418.
  • Krausz C, Riera-Escamilla A, Chianese C, et al. From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia. Genet Med. 2019;21(1):189–194. .
  • Bargman GJ, Shahidi NT, Gilbert EF, et al. Studies of malformation syndromes of man XL VII: disappearance of spermatogonia in the Fanconi anemia syndrome. Eur J Pediatr. 1977;125(3):163–168.
  • Frohnmayer D, et al. Fanconi anemia: guidelines for diagnosis and management. 4th. Fanconi Anemia Research Fund; 2014. Accessed 2021 Mar 25. Available from: https://www.fanconi.org/images/uploads/other/Guidelines_4th_Edition.pdf
  • Kasak L, Punab M, Nagirnaja L, et al. Bi-allelic recessive loss-of-function variants in FANCM cause non-obstructive azoospermia. Am J Hum Genet. 2018;103(2):200–212. .
  • Wong JC, Alon N, McKerlie C, et al. Targeted disruption of exons 1 to 6 of the Fanconi anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasia. Hum Mol Genet. 2003;12(16):2063–2076.
  • Fu C, Begum K, Overbeek PA. Primary ovarian insufficiency induced by Fanconi anemia E mutation in a mouse model. PLoS One. 2016;11(3):e0144285.
  • Bakker ST, Van De Vrugt HJ, Rooimans MA, et al. Fancm-deficient mice reveal unique features of Fanconi anemia complementation group M. Hum Mol Genet. 2009;18(18):3484–3495. .

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