Fetal Gene Therapy Publications

The following list of fetal gene therapy publications will help you in your search for more information. Most of our fetal gene therapy publications are written by members of the Center for Fetal Diagnosis and Treatment at The Children's Hospital of Philadelphia. If you are unable to obtain any of these fetal gene therapy publications, please let us know, and we will send copies to you.

Journal articles


Gene and Stem Cell Therapies for Fetal Care: A Review. O'Connell AE, Guseh S, Lapteva L, Cummings CL, Wilkins-Haug L, Chan J, Peranteau WH, Almeida-Porada G, Kourembanas S. JAMA Pediatr. 2020 Jun 29.doi: 10.1001/jamapediatrics.2020.1519. Online ahead of print.


Alapati D, Zacharias WJ, Hartman HA, Rossidis AC, Stratigis JD, Ahn NJ, Coons B, Zhou S, Li H, Singh K, Katzen J, Tomer Y, Chadwick AC, Musunuru K, Beers MF, Morrisey EE, Peranteau WH. In utero gene editing for monogenic lung disease. Science Translational Medicine. 2019 April 17; Vol. 11, Issue 488. doi: 10.1126/scitranslmed.aav8375. Read the abstract.

Almeida-Porada G, Waddington SN, Chan JKY, Peranteau WH, MacKenzie T, Porada CD. In Utero Gene Therapy Consensus Statement from the IFeTIS. Mol Ther. 2019 Mar 2;. PMID: 30837116 

Lalonde E, Ebrahimzadeh J, Rafferty K, Richards-Yutz J, Grant R, Toorens E, Marie Rosado J, Schindewolf E, Ganguly T, Kalish JM, Deardorff MA, Ganguly A. Molecular diagnosis of somatic overgrowth conditions: A single-center experience. Mol Genet Genomic Med. 2019 Feb 13; PMID: 30761771


Campbell IM, Sheppard SE, Crowley TB, et al [includes Moldenhauer JS and Schindewolf E]. What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia. Am J Med Genet Part A. 2018;176A:2058–2069.

Rossidis AC, Stratigis JD, Chadwick AC, Hartman HA, Ahn NJ, Li H, Singh K, Coons BE, Li L, Lv W, Zoltick PW, Alapati D, Zacharias W, Jain R, Morrisey EE, Musunuru K, Peranteau WH. In utero CRISPR-mediated therapeutic editing of metabolic genes. Nat Med. 2018 Oct;24(10):1513-1518. Epub 2018 Oct 8. Read the abstract.

Schindewolf E, Khalek N, Johnson MP, Gebb J, Coleman B, Crowley TB, Zackai EH, McDonald-McGinn DM, Moldenhauer JS. Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome. Am J Med Genet A. 2018 Jul 28; PMID: 30055034 


Abi-Nader KN, Boyd M, Flake AW, Mehta V, Peebles D, David AL. Animal models for prenatal gene therapy: the sheep model. Methods Mol Biol. 2012;891:219-48. Cited in PubMed; PMID:22648775.

Roybal JL, Endo M, Buckley SM, Herbert BR, Waddington SN, Flake AW. Animal models for prenatal gene therapy: rodent models for prenatal gene therapy. Methods Mol Biol. 2012;891:201-18. Cited in PubMed; PMID:22648774.

Laje P, Johnson MP, Howell LJ, Bebbington MW, Hedrick HL, Flake AW, et al. Ex utero intrapartum treatment in the management of giant cervical teratomas. J Pediatr Surg. 2012 Jun;47(6):1208-16. Cited in PubMed; PMID:22703795.


Davey MG, Flake AW. Genetic therapy for the fetus: a once in a lifetime opportunity. Hum Gene Ther. 2011 Apr;22(4):383-5. Cited in PubMed; PMID 21486158. No abstract available.


Endo M, Henriques-Coelho T, Zoltick PW, Stitelman DH, Peranteau WH, Radu A, Flake AW. The developmental stage determines the distribution and duration of gene expression after early intra-amniotic gene transfer using lentiviral vectors. Gene Ther. 2010 Jan;17(1):61-71. Epub 2009 Sep 3.


Laje P, Shang D, Cao W, Niiya M, Endo M, Radu A, DeRogatis N, Scheiflinger F, Zoltick PW, Flake AW, Zheng XL. Correction of murine ADAMTS13 deficiency by hematopoietic progenitor cell-mediated gene therapy. Blood. 2009 Mar 5;113(10):2172-80. Epub 2009 Jan 13.

Niiya M, Endo M, Shang D, Zoltick PW, Muvarak NE, Cao W, Jin SY, Skipwith CG, Motto DG, Flake AW, Zheng XL. Correction of ADAMTS13 deficiency by in utero gene transfer of lentiviral vector encoding ADAMTS13 genes. Mol Ther. 2009 Jan;17(1):34-41. Epub 2008 Oct 28.


Hayashi S, Peranteau W, Shaaban AF, Flake AW. Complete allogeneic hematopoietic chimerism achieved by a combined strategy of in utero hematopoietic stem cell transplantation and postnatal donor lymphocyte infusion. Blood 100:804-812, 2002

MacKenzie TC, Kobinger GP, Kootstra NA, Radu A, Sena-Esteves M, Bouchard S,Wilson JM, Verma IM, Flake AW. Efficient transduction of liver and muscle after in utero injection of lentiviral vectors with different pseudotypes. Molecular Therapy 6:349-358, 2002

MacKenzie TC, Shaaban AF, Radu A, Flake AW. Engraftment of bone marrow and fetal liver cells after in utero transplantation in mdx mice. Journal of Pediatric Surgery 37:1058-1064, 2002

Peranteau WH, Hayashi S, Hsieh M, Shaaban AF, Flake AW. High level allogeneic chimerism achieved by a strategy of prenatal tolerance induction and postnatal non-myeloablative bone marrow transplantation. Blood. 2002 Sep 15;100(6):2225-34.

Krupnick AS, Shaaban AF, Flake AW. Bone marrow tissue engineering. Tissue Engineering 8:145-155, 2002.

Wilson RD. Cystic fibrosis carrier testing in pregnancy in Canada. JOGC 24:644-647, 2002.


MacKenzie TC, Flake AW. Multilineage differentiation of human MSC after in utero transplantation. Cytotherapy 3:403-405, 2001

Arruda VR, Fields PA, Milner R, Wainwright L, De Miguel MP, Donovan PJ, Herzog RW, Nichols TC, Biegel JA, Razavi M, Dake M, Huff D, Flake AW, Couto L, Kay MA, High KA. Lack of germline transmission of vector sequences following systemic administration of recombinant AAV-2 vector in males. Molecular Therapy 6:586-592, 2001


Kay MA, Manno CS, Ragni MV, Larson PJ, Couto LB, McClelland A, Glader B, Chew AJ, Tai SJ, Herzog RW, Arruda V, Johnson F, Scallan C, Skarsgard E, Flake AW, High KA: Evidence for gene transfer and expression of blood coagulation factor IX in patients with severe haemophilia B treated with an AAV vector. Nature Genetics 24:257-261, 2000.


Yang EY, Kim HB, Shaaban AF, Milner R, Adzick NS, Flake AW. Fetal intramuscular delivery of recombinant adenovirus results in persistent postnatal transgene expression in both muscle and liver. J Pediatr Surg. 1999 May;34(5):766-72; discussion 772-3.


Yang EY, Cass DL, Sylvester KG, Flake AW, Wilson JM, Adzick NS: Liver-directed fetal gene therapy using recombinant adenoviral vectors: Successful readministration in mid-gestation sheep fetuses. Surgical Forum, 47: 464-467, 1997.

Sylvester KG, Yang EY, Cass DL, Crombleholme TM, Adzick NS: Fetoscopic gene therapy for congenital lung disease. J Pediatr Surg 32:964-969, 1997.


Meuli M, Liu Y, Liggit D, Meuli-Simmen C, Knauer S, Harrison MR, Adzick NS, Debs RJ: Cutaneous gene expression after local DNA delivery. Surgical Forum 46:701-702, 1995.


Eglitis MA, Kantoff PW, McLachlin JR, Gillio A, Flake AW: Gene therapy: efforts at developing large animal models for autologous bone marrow transplant and gene transfer with retroviral vectors. Ciba Foundation Symposium 130:229-246 1987.


Kantoff PW, Gillio A, McLachlin JR, Flake AW, Eglitis MA, Moen R, Karlsson S, Kohn DB, Karson E, Zweibel JA: Retroviral-mediated gene transfer into hematopoietic cells. Transactions of the Association of American Physicians 99:92-102, 1986.


Evans MI, Flake AW, Harrison MR, Quintero RA, Johnson MP. Fetal Therapy. In Genetic Disorders and the Fetus, 5th edition, Milunsky A (ed.), The John Hopkins University Press, Baltimore, MD, Chapter 29, pp 952 98, 1998.

Johnson MP, Harrison MR, Adzick NS, Reichler A, Evans MI. Fetal gene therapy. In Rock J and Gant N (eds): Advances in Obstetrics and Gynecology. CV Mosby Publishing Company, St. Louis MO; 1994, pp 423-434.

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