Monozygotic Twins with Discordant Karyotypes Following Preimplantation Genetic Screening and Single Embryo Transfer: Case Report

Overview

Journal J Assist Reprod Genet

Publisher Springer

Specialties Genetics
Reproductive Medicine

Date 2010 Aug 12

PMID 20700760

Citations 2

Authors

Gabriela Tauwinklova

Renata Gaillyova

Pavel Travnik

Eva Oracova

Katerina Vesela

Lenka Hromadova

Jan Vesely

Petra Musilova

Jiri Rubes

Jitka Kadlecova

Iva Slamova

Eva Makaturova

Vladimira Vranova

Affiliations

Soon will be listed here.

Abstract

Purpose: to report a case of monozygotic monochorial diamniotic twins with discordant karyotypes.

Methods And Results: the pregnancy was achieved following a treatment cycle with intracytoplasmic sperm injection (ICSI) and preimplantation genetic screening (PGS) for chromosomes X, Y, 13, 16, 18, 21, 22. One embryo euploid for studied chromosomes was transferred. Prenatal ultrasonography revealed monozygotic twins. One fetus had growth retardation, multiple organ abnormalities and polyhydramnion. The other twin had normal ultrasound appearance. Delivery on week 29 of gestation resulted in the birth of two females, a stillborn twin with karyotype 45,XX,-13[12]/46,XX,r(13)[3] and a healthy twin with normal karyotype.

Conclusions: the discordance in the twins' karyotypes originated from a mosaic embryo. Structural chromosomal abnormality of the affected twin could not be revealed using standard PGS investigation. Embryo splitting occurred probably due to apoptotic process in an early stage of embryo development. Apoptosis represents one of the possible mechanisms which can explain the embryo twinning process globally.

Citing Articles

Initially categorized 46,XY embryo transfer ending with 45,X products of conception-a case report and a review of discordant result management.

Singh P, Snider A, Kayali R, Mancuso A F S Rep. 2024; 5(3):328-332.

PMID: 39381658 PMC: 11456636. DOI: 10.1016/j.xfre.2024.05.006.

Senescence and Apoptosis During Embryo Development in a Bovine Model.

Ramos-Ibeas P, Gimeno I, Canon-Beltran K, Gutierrez-Adan A, Rizos D, Gomez E Front Cell Dev Biol. 2021; 8:619902.

PMID: 33392207 PMC: 7775420. DOI: 10.3389/fcell.2020.619902.

References

Pampfer S . Apoptosis in rodent peri-implantation embryos: differential susceptibility of inner cell mass and trophectoderm cell lineages--a review. Placenta. 2000; 21 Suppl A:S3-10. DOI: 10.1053/plac.1999.0519. View

Schmid O, Trautmann U, Ashour H, Ulmer R, Pfeiffer R, Beinder E . Prenatal diagnosis of heterokaryotypic mosaic twins discordant for fetal sex. Prenat Diagn. 2000; 20(12):999-1003. DOI: 10.1002/1097-0223(200012)20:12<999::aid-pd948>3.0.co;2-e. View

Esfandiari N, Kapoor M, Burjaq H, Chang P, Gotlieb L, Casper R . Monozygotic twins in infertile patients with advanced maternal age: case reports and review of the literature. Fertil Steril. 2009; 92(3):1168.e9-1168.e12. DOI: 10.1016/j.fertnstert.2009.05.085. View

Glover T, Stein C . Chromosome breakage and recombination at fragile sites. Am J Hum Genet. 1988; 43(3):265-73. PMC: 1715373. View

ODonnell C, Pertile M, Sheffield L, Sampson A . Monozygotic twins with discordant karyotypes: a case report. J Pediatr. 2004; 145(3):406-8. DOI: 10.1016/j.jpeds.2004.06.024. View

Toledo M . Is there increased monozygotic twinning after assisted reproductive technology?. Aust N Z J Obstet Gynaecol. 2005; 45(5):360-4. DOI: 10.1111/j.1479-828X.2005.00451.x. View

Lewi L, Blickstein I, Van Schoubroeck D, Gloning K, Casteels M, Brandenburg H . Diagnosis and management of heterokaryotypic monochorionic twins. Am J Med Genet A. 2006; 140(3):272-5. DOI: 10.1002/ajmg.a.31052. View

Haimov-Kochman R, Daum H, Lossos F, Aizenman E, Werner M, Yagel S . Monozygotic multiple gestation after intracytoplasmic sperm injection and preimplantation genetic diagnosis. Fertil Steril. 2009; 92(6):2037.e11-7. DOI: 10.1016/j.fertnstert.2009.09.002. View

Chang H, Lee J, Jee B, Suh C, Kim S . Impact of blastocyst transfer on offspring sex ratio and the monozygotic twinning rate: a systematic review and meta-analysis. Fertil Steril. 2008; 91(6):2381-90. DOI: 10.1016/j.fertnstert.2008.03.066. View

10.

Verpoest W, Van Landuyt L, Desmyttere S, Cremers A, Devroey P, Liebaers I . The incidence of monozygotic twinning following PGD is not increased. Hum Reprod. 2009; 24(11):2945-50. DOI: 10.1093/humrep/dep280. View

11.

Pharoah P, Dundar Y . Monozygotic twinning, cerebral palsy and congenital anomalies. Hum Reprod Update. 2009; 15(6):639-48. DOI: 10.1093/humupd/dmp019. View

12.

Gilbert B, Yardin C, Briault S, Belin V, Lienhardt A, Aubard Y . Prenatal diagnosis of female monozygotic twins discordant for Turner syndrome: implications for prenatal genetic counselling. Prenat Diagn. 2002; 22(8):697-702. DOI: 10.1002/pd.383. View

13.

Gentilin B, Guerneri S, Bianchi V, Natacci F, Colombo A, Fogliani R . Discordant prenatal phenotype and karyotype of monozygotic twins characterized by the unequal distribution of two cell lines investigated by different methods: a review. Twin Res Hum Genet. 2008; 11(3):352-6. DOI: 10.1375/twin.11.3.352. View

14.

Sharara F, Abdo G . Incidence of monozygotic twins in blastocyst and cleavage stage assisted reproductive technology cycles. Fertil Steril. 2009; 93(2):642-5. DOI: 10.1016/j.fertnstert.2008.12.130. View

15.

Coonen E, Dumoulin J, Ramaekers F, Hopman A . Optimal preparation of preimplantation embryo interphase nuclei for analysis by fluorescence in-situ hybridization. Hum Reprod. 1994; 9(3):533-7. DOI: 10.1093/oxfordjournals.humrep.a138540. View

16.

Munne S, Marquez C, Magli C, Morton P, Morrison L . Scoring criteria for preimplantation genetic diagnosis of numerical abnormalities for chromosomes X, Y, 13, 16, 18 and 21. Mol Hum Reprod. 1998; 4(9):863-70. DOI: 10.1093/molehr/4.9.863. View

17.

Aston K, Peterson C, Carrell D . Monozygotic twinning associated with assisted reproductive technologies: a review. Reproduction. 2008; 136(4):377-86. DOI: 10.1530/REP-08-0206. View

18.

Alikani M, Cekleniak N, Walters E, Cohen J . Monozygotic twinning following assisted conception: an analysis of 81 consecutive cases. Hum Reprod. 2003; 18(9):1937-43. DOI: 10.1093/humrep/deg369. View

19.

Cheng P, Shaw S, Shih J, Soong Y . Monozygotic twins discordant for monosomy 21 detected by first-trimester nuchal translucency screening. Obstet Gynecol. 2006; 107(2 Pt 2):538-41. DOI: 10.1097/00006250-200602001-00041. View

20.

Hamel P, Phillips R, Muncaster M, Gallie B . Speculations on the roles of RB1 in tissue-specific differentiation, tumor initiation, and tumor progression. FASEB J. 1993; 7(10):846-54. DOI: 10.1096/fasebj.7.10.8344484. View