Skip to main content
Top
Published in: Journal of Assisted Reproduction and Genetics 8/2014

01-08-2014 | Case Report

Birth of a healthy boy after PGD for X-linked heterotaxy syndrome

Authors: R. Bautista-Llácer, M. Pardo-Belenguer, E. García-Mengual, C. Sánchez-Matamoros, E. Raga, J. M. Calafell, M. S. Cívico, F. Fábregues, X. Vendrell

Published in: Journal of Assisted Reproduction and Genetics | Issue 8/2014

Login to get access

Excerpt

Heterotaxy syndrome is a clinically and genetically heterogeneous rare disorder included in the group of congenital heart diseases (CHD). The word heterotaxy comes from the Greek “heteros”, meaning “different”; and “taxis”, meaning “arrangement”. The thoracic and visceral organs (including the heart, liver, lungs, spleen, and stomach) have an abnormal placement, as they are situated randomly with respect to the left-right axis and with respect to one another [20]. …
Literature
1.
go back to reference Alberola TM, Bautista-Llácer R, Fernández E, Vendrell X, Pérez-Alonso M. (2009) Preimplantation genetic diagnosis of P450 oxidoreductase deficiency and Huntington Disease using three different molecular approaches simultaneously. J Assist Reprod Genet 26:263-271. Alberola TM, Bautista-Llácer R, Fernández E, Vendrell X, Pérez-Alonso M. (2009) Preimplantation genetic diagnosis of P450 oxidoreductase deficiency and Huntington Disease using three different molecular approaches simultaneously. J Assist Reprod Genet 26:263-271.
2.
go back to reference Balasch J, Vidal E, Peñarrubia J, Casamitjana R, Carmona F, Creus M, et al. Suppression of LH during ovarian stimulation: analysing threshold values and effects on ovarian response and the outcome of assisted reproduction in down-regulated women stimulated with recombinant FSH. Hum Reprod. 2001;16:1636–43.PubMedCrossRef Balasch J, Vidal E, Peñarrubia J, Casamitjana R, Carmona F, Creus M, et al. Suppression of LH during ovarian stimulation: analysing threshold values and effects on ovarian response and the outcome of assisted reproduction in down-regulated women stimulated with recombinant FSH. Hum Reprod. 2001;16:1636–43.PubMedCrossRef
3.
go back to reference Belmont JW, Mohapatra B, Towbin JA, Ware SM. Molecular genetics of heterotaxy syndromes. Curr Opin Cardiol. 2004;19:216–20.PubMedCrossRef Belmont JW, Mohapatra B, Towbin JA, Ware SM. Molecular genetics of heterotaxy syndromes. Curr Opin Cardiol. 2004;19:216–20.PubMedCrossRef
4.
go back to reference Changlani DK, Kotecha M, Changlani TD, Varghese R, Kumar RS. Visceral heterotaxy in the developing world. Heart Lung Circ. 2012;21:598–605.PubMedCrossRef Changlani DK, Kotecha M, Changlani TD, Varghese R, Kumar RS. Visceral heterotaxy in the developing world. Heart Lung Circ. 2012;21:598–605.PubMedCrossRef
5.
go back to reference Cui XF, Li HH, Goradia TM, Kazazian Jr HH, Galas D, Arnheim N. Single-sperm typing: determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers. Proc Natl Acad Sci U S A. 1989;86:9389–93.PubMedCentralPubMedCrossRef Cui XF, Li HH, Goradia TM, Kazazian Jr HH, Galas D, Arnheim N. Single-sperm typing: determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers. Proc Natl Acad Sci U S A. 1989;86:9389–93.PubMedCentralPubMedCrossRef
7.
go back to reference Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth AS, Penman-Splitt M, et al. X-linked situs abnormalities result from mutations in ZIC3. Nat Genet. 1997;17:305–8.PubMedCrossRef Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth AS, Penman-Splitt M, et al. X-linked situs abnormalities result from mutations in ZIC3. Nat Genet. 1997;17:305–8.PubMedCrossRef
8.
go back to reference Handyside AH, Kontogianni EH, Hardy K, Winston RM. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990;344:768–70.PubMedCrossRef Handyside AH, Kontogianni EH, Hardy K, Winston RM. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990;344:768–70.PubMedCrossRef
9.
go back to reference Harper JC, Wilton L, Traeger-Synodinos J, Goossens V, Moutou C, SenGupta SB, et al. The ESHRE PGD Consortium: 10 years of data collection. Hum Reprod Update. 2012;18(3):234–47.PubMedCrossRef Harper JC, Wilton L, Traeger-Synodinos J, Goossens V, Moutou C, SenGupta SB, et al. The ESHRE PGD Consortium: 10 years of data collection. Hum Reprod Update. 2012;18(3):234–47.PubMedCrossRef
10.
go back to reference Harton GL, De Rycke M, Fiorentino F, Moutou C, SenGupta S, Traeger-Synodinos J, et al. ESHRE PGD consortium best practice guidelines for amplification-based preimplantation genetic diagnosis (PGD). Hum Reprod. 2011;26:33–40.PubMedCrossRef Harton GL, De Rycke M, Fiorentino F, Moutou C, SenGupta S, Traeger-Synodinos J, et al. ESHRE PGD consortium best practice guidelines for amplification-based preimplantation genetic diagnosis (PGD). Hum Reprod. 2011;26:33–40.PubMedCrossRef
11.
go back to reference ISO 9001. Quality management systems- requirements. Geneva: International Organization for Standardization; 2000. ISO 9001. Quality management systems- requirements. Geneva: International Organization for Standardization; 2000.
12.
go back to reference Megarbane A, Salem N, Stephan E, Ashoush R, Lenoir D, Delague V, et al. X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation. Eur J Hum Genet. 2000;8:704–8.PubMedCrossRef Megarbane A, Salem N, Stephan E, Ashoush R, Lenoir D, Delague V, et al. X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation. Eur J Hum Genet. 2000;8:704–8.PubMedCrossRef
13.
go back to reference Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {#306955}: {12/06/2012}: World Wide Web URL: http://omim.org/ Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {#306955}: {12/06/2012}: World Wide Web URL: http://​omim.​org/​
15.
go back to reference Tariq M, Belmont JW, Lalani S, Smolarek T, Ware SM. SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing. Genome Biol. 2011;12:R91.PubMedCentralPubMedCrossRef Tariq M, Belmont JW, Lalani S, Smolarek T, Ware SM. SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing. Genome Biol. 2011;12:R91.PubMedCentralPubMedCrossRef
16.
go back to reference The Preimplantation Genetic Diagnosis International Society (PGDIS). Guidelines for good practice in PGD: programme requirements and laboratory quality assurance. Reprod BioMed Online. 2008;16:134–47.CrossRef The Preimplantation Genetic Diagnosis International Society (PGDIS). Guidelines for good practice in PGD: programme requirements and laboratory quality assurance. Reprod BioMed Online. 2008;16:134–47.CrossRef
17.
go back to reference Vendrell X, Bautista-Llácer R (2012). A methodological overview on molecular preimplantation genetic diagnosis and screening: a genomic future?. Syst Biol Reprod Med 58(6):289–300. Vendrell X, Bautista-Llácer R (2012). A methodological overview on molecular preimplantation genetic diagnosis and screening: a genomic future?. Syst Biol Reprod Med 58(6):289–300.
18.
go back to reference Vendrell X, Carrero R, Alberola T, Bautista-Llácer R, García-Mengual E, Claramunt R, Pérez-Alonso M. (2009) Quality management system in PGD/PGS: now is the time. J Assist Reprod Genet 26:197–204. Vendrell X, Carrero R, Alberola T, Bautista-Llácer R, García-Mengual E, Claramunt R, Pérez-Alonso M. (2009) Quality management system in PGD/PGS: now is the time. J Assist Reprod Genet 26:197–204.
19.
go back to reference Vendrell X, Bautista-Llácer R, Alberola TM, García-Mengual E, Pardo M, Urries A, Sánchez J (2011). Pregnancy after PGD for recessive dystrophic epidermolysis bullosa inversa: genetics and preimplantation genetics. J AssistReprod Genet 28(9):825–32. Vendrell X, Bautista-Llácer R, Alberola TM, García-Mengual E, Pardo M, Urries A, Sánchez J (2011). Pregnancy after PGD for recessive dystrophic epidermolysis bullosa inversa: genetics and preimplantation genetics. J AssistReprod Genet 28(9):825–32.
20.
go back to reference Ware S, Peng J, Lirong Z, Fernbach S, Colicos S, Casey B, et al. Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet. 2004;74:93–105.PubMedCentralPubMedCrossRef Ware S, Peng J, Lirong Z, Fernbach S, Colicos S, Casey B, et al. Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet. 2004;74:93–105.PubMedCentralPubMedCrossRef
Metadata
Title
Birth of a healthy boy after PGD for X-linked heterotaxy syndrome
Authors
R. Bautista-Llácer
M. Pardo-Belenguer
E. García-Mengual
C. Sánchez-Matamoros
E. Raga
J. M. Calafell
M. S. Cívico
F. Fábregues
X. Vendrell
Publication date
01-08-2014
Publisher
Springer US
Published in
Journal of Assisted Reproduction and Genetics / Issue 8/2014
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI
https://doi.org/10.1007/s10815-014-0262-8

Other articles of this Issue 8/2014

Journal of Assisted Reproduction and Genetics 8/2014 Go to the issue