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Hum. Reprod. Advance Access originally published online on September 16, 2004
Human Reproduction 2004 19(12):2816-2821; doi:10.1093/humrep/deh533
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Human Reproduction vol. 19 no. 12 © European Society of Human Reproduction and Embryology 2004; all rights reserved

Blood lymphocyte chimerism associated with IVF and monochorionic dizygous twinning: Case report

C.A. Williams1,6, M.R. Wallace1,2, K.C. Drury3, S. Kipersztok3, R.K. Edwards4, R.S. Williams3, M.J. Haller5, D.A. Schatz5, J.H. Silverstein5, B.A. Gray1 and R.T. Zori1

1 The R.C.Philips Unit, Division of Genetics, Department of Pediatrics, 2 Department of Molecular Genetics and Microbiology, 3 IVF Program and Laboratory, Division of Reproductive Endocrinology and Infertility and 4 Division of Maternal–Fetal Medicine, Department of Obstetrics and Gynecology and 5 Division of Endocrinology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA

6 To whom correspondence should be addressed at: P.O.Box 100296, H.S.C., Gainesville, FL 32610, USA. Email: willicx{at}peds.ufl.edu

We report on dizygotic (DZ) twins, conceived by IVF and ICSI with assisted hatching, who each had a mixture of 46,XX and 46,XY cells in blood lymphocytes. The female twin had mild genitalia abnormalities but further study revealed anatomically normal reproductive anatomy. Chromosome and fluorescence in situ hybridization studies of buccal, skin and ovarian tissue were normal, as were buccal tissue DNA studies. Fetal ultrasound and fetal membrane pathology were consistent with a monochorionic, diamniotic placenta (MCDAP). These twins thus have blood chimerism but are not chimeric in the other tissues studied. The mechanism for the chimerism could be due to either placental vascular anastamoses (after the development of the haematoblast stem cells) or due to an admixture of trophoblast cells during early blastocyst development. Such trophoblast cell admixtures would be restricted to the extraembryonic tissues so that general physical development in the fetus is normal and without somatic cell chimerism. This case in combination with others previously reported suggests that in IVF conceptions, the prevalence of blood chimerism associated with twinning, and the occurrence of DZ twinning associated with MCDAP, may be higher than previously thought.

Key words: assisted hatching/assisted reproduction techniques/blood chimerism/IVF/monochorionic placenta


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