In Utero Bipolar Diathermy to Salvage a Phenotypically Normal Fetus in 45,X/46,XY Heterokaryotypic Monochorionic Twins

Tuangsit Wataganara, Poomporn Uschararattanasopon, Chayawat Phatihattakorn, Chanin Limwongse, Sommai Viboonchart, Katika Nawapun

Division of Genetics, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Bangkok, Thailand.
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Faculty of Medicine, Siriraj Hospital, Bangkok, Thailand.
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Faculty of Medicine, Siriraj Hospital,Bangkok, Thailand.

DOI: 10.4236/ss.2012.32020                

Abstract

Heterokaryotypic monozygotic twins are rare. We report a set of monochorionic diamniotic twins complicated with lethal malformations and hydrops in one fetus at menstrual age of 16 weeks’. Sonographic appearances and genetic am-niocentesis result suggested for 45,X and 46,XY heterokaryotypic twins. Coexisting polyhydramnios found in the sac of severely malformed 45,X fetus threatened miscarriage and premature delivery. To salvage the phenotypically normal male fetus, the hydropic 45,X co-twin was selectively terminated by occlusion of its umbilical cord with bipolar dia-thermy. Complete cessation of funicular flow was achieved, resulting in normalization of total amniotic fluid volume. A healthy 2200-gram baby boy was born at 38 weeks’. His neurodevelopment was intact at 2 years of age. His physical examination was significant for slight growth delay (15 percentiles), with 6% of 45,X mosaicism found in his peripheral blood. Owing to the rarity of the cases, limited data is available regarding an optimal treatment for heterokaryotypic monochorionic twins with discordant lethal malformation. Intrauterine intervention may be offered should demise or permanent disabilities are imminent to the apparently normal fetus.

Keywords

Fetal Intervention; Heterokaryotypia; Monochorionic Twins; Bipolar Diathermy

Conflicts of Interest

The authors declare no conflicts of interest.

References

[1]	T. Tongsong, P. Chanprapaph, S. Khunamornpong and S. Sirichotiyakul, “Sonographic Features of Ebstein Anomaly Associated with Hydrops Fetalis: A Report of Two Cases,” Journal of Clinical Ultrasound, Vol. 33, No. 3, 2005, pp. 149-153. doi:10.1002/jcu.20102
[2]	C. Bohec, N. Douet-Guilbert, A. Basinko, M. J. Le Bris, P. Marcorelles, M. P. Audrezet, et al., “Difficult Diagnosis and Management of an Heterokaryotypic Monochorionic Twin Pregnancy with Discordant Fetal Sex and 45,X/47,XYY Karyotypes,” Fetal & Pediatric Pathology, Vol. 29, No. 6, 2010, pp. 424-430. doi:10.3109/15513815.2010.505630
[3]	S. G. Babson and G. I. Benda, “Growth Graphs for the Clinical Assessment of Infants of Varying Gestational Age,” Journal of Pediatric, Vol. 89, No. 5, 1976, pp. 814-820. doi:10.1016/S0022-3476(76)80815-3
[4]	L. Fusi and H. Gordon, “Twin Pregnancy Complicated by Single Intrauterine Death. Problems and Outcome with Conservative Management,” British Journal of Obstetrics and Gynaecology, Vol. 97, No. 6, 1990, pp. 511-516. doi:10.1111/j.1471-0528.1990.tb02521.x
[5]	S. S. Ong, J .Zamora, K. S. Khan and M. D. Kilby, “Prognosis for the Co-Twin Following Single-Twin Death: A Systematic Review,” BJOG: An International Journal of Obstetrics & Gynaecology, Vol. 113, No. 9, 2006, pp. 992-998. doi:10.1111/j.1471-0528.2006.01027.x
[6]	J. H. Edwards, T. Dent and J. Kahn, “Monozygotic Twins of Different Sex,” Journal of Medical Genetics, Vol. 3, 1966, pp. 117-123. doi:10.1136/jmg.3.2.117
[7]	T. Costa, M. Lambert, I. Teshima, P. N. Ray, C. L. Richer and L. Dallaire, “Monozygotic Twins with 45,X/46,XY Mosaicism Discordant for Phenotypic Sex,” American Journal of Medical Genetics, Vol. 75, No. 1, 1998, pp. 40-44. doi:10.1002/(SICI)1096-8628(19980106)75:1<40::AID-AJMG9>3.0.CO;2-U
[8]	M. Geerts, J. Steyaert and J. P. Fryns, “The XYY Syndrome: A Follow-Up Study on 38 Boys,” Genetic Counseling, Vol. 14, No. 3, 2003, pp. 267-279.
[9]	H. Vandecruys, K. Avgidou, E. Surerus, N. Flack and K. H. Nicolaides, “Dilemmas in the Management of Twins Discordant for Anencephaly Diagnosed at 11 + 0 to 13 + 6 Weeks of Gestation,” Ultrasound in Obstetrics & Gynecology, Vol. 28, No. 5, 2006, pp. 653-658. doi:10.1002/uog.2836
[10]	L. Lewi, “Monochorionic Diamniotic Twin Pregnancies Pregnancy Outcome, Risk Stratification and Lessons Learnt from Placental Examination,” Verh Koninklijke Academie voor Geneeskunde van Belgi?, Vol. 72, 2010, pp. 5-15.
[11]	J. P. Bruner, T. C. Wheeler and M. J. Bliton, “Sectio Parva for Fetal Preservation,” Fetal Diagnosis and Therapy, Vol. 14, No. 4, 1999, pp. 254-256. doi:10.1159/000020932
[12]	L. Lewi, C. Valencia, E. Gonzalez, J. Deprest and K. H. Nicolaides, “The Outcome of Twin Reversed Arterial Perfusion Sequence Diagnosed in the First Trimester,” American Journal of Obstetrics and Gynecology, Vol. 203, No. 3, 2010, pp. 213.e1-213.e4.
[13]	B. Gilbert, C. Yardin, S. Briault, V. Belin, A. Lienhardt, Y. Aubard, et al., “Prenatal Diagnosis of Female Mono- zygotic Twins Discordant for Turner Syndrome: Implications for Prenatal Genetic Counseling,” Prenatal Diagnosis, Vol. 22, No. 8, 2002, pp. 697-702. doi:10.1002/pd.383
[14]	C. P. Chen, S. R. Chern and W. Wang, “Rapid Determination of Zygosity and Common Aneuploidies from Amniotic Fluid Cells Using Quantitative Fluorescent Polymerase Chain Reaction Following Genetic Amniocentesis in Multiple Pregnancies,” Human Reproduction, Vol. 15, No. 4, 2000, pp. 929-934. doi:10.1093/humrep/15.4.929