PREIMPLANTATION GENETIC DIAGNOSIS – 4 YEARS’ EXPERIENCE AT THE DEPARTMENT OF GYNECOLOGY, UNIVERSITY MEDICAL CENTRE LJUBLJANA
Abstract
Background. Preimplantation genetic diagnosis offers early investigation of embryos in couples with a high risk for offspring affected by a genetic disease. We report indications and results associated with the PGD program conducted at Gynecology Clinic Ljubljana from June 2004 to December 2008.
Methods. The retrospective analysis includes sixty cycles performed in 34 couples enrolled in the PGD programe. Embryos were biopsied on the third day and the genetic analysis was performed using the FISH and PCR methods. Embryo transfers were carried out on the fifth day.
Results. The main indications were chromosomal abnormalities (67 %), followed by recurrent miscarriages (16 %), autosomal dominant and recessive diseases (9 %), and X-linked diseases (6 %). Sixty cycles were performed and 48 embryo transfer procedures. There were 15 clinical pregnancies resulting in clinical pregnancy rate 25 % per cycle and 37.5 % per embryo transfer. A total of eight unaffected children were born, and two pregnancies are still ongoing.
Conclusions. PGD is technically a very challenging procedure. Superior knowledge and communication between geneticists and reproductive medicine scientists is mandatory for successful PGD procedures. PGD has gained a place among the choices offered at Gynecology Clinic Ljubljana to couples at risk of transmission of genetic disease.
Downloads
References
Handyside AH, Kontogianni EH, Hardy K, Winston RML. Pregnancies
from biopsied human preimplantation embryos sexed
by Y-specific DNA amplification. Nature 1990; 344: 768–70.
Baird PA, Anderson TW, Newcombe HB, Lowry RB. Genetic
disorders in children and young adults: a population study. Am
J Hum Genet 1988; 42: 677–93.
Verlinsky Y, Cieslak J, Freidine M, Ivakhnenko V, Wolf G, Kovalinskaya
L, et al. Pregnancies following pre-conception diagnosis
of common aneuploidies by fluorescent in-situ hybridization.
Hum Reprod 1995; 10: 1923–7.
Mastenbroek S, Scriven P, Twisk M, Viville S, Van der Veen F,
Repping S. What next for preimplantation genetic screening?
More randomized controlled trials needed? Hum Reprod 2008;
: 2626–8.
Goossens V, Harton G, Moutou C, Traeger-Synodinos J, Van Rij
M, Harper JC. ESHRE PGD Consortium data collection IX: cycles
from January to December 2006 with pregnancy follow-up to
October 2007. Hum Reprod. V tisku 2009.
Fritz MA. Perspectives on the efficacy and indications for preimplantation
genetic screening: where are we now? Hum Reprod
; 23: 2617–21.
Preimplantation genetic screening for aneuploidy (ACOG Committee
Opinion No. 430). Obstet Gynecol 2009; 113: 766–7.
Wilton L, Thornhill A, Traeger-Synodinos J, Sermon KD, Harper
JC. The causes of misdiagnosis and adverse outcomes in PGD.
Hum Reprod 2009; 24: 1221–8.
Harper JC, Coonen E, Handyside AH, Winston RM, Hopman AH,
Delhanty JD. Mosaicism of autosomes and sex chromosomes in
morphologically normal, monospermic preimplantation human
embryos. Prenat Diagn 1995; 15: 41–9.
Bielanska M, Tan SL, Ao A. Chromosomal mosaicism throughout
human preimplantation development in vitro: incidence,
type, and relevance to embryo outcome. Hum Reprod 2002; 17:
–9.
Baart EB, Martini E, van den Berg I, Macklon NS, Galjaard RJ,
Fauser BC, et al. Preimplantation genetic screening reveals a high
incidence of aneuploidy and mosaicism in embryos from young
women undergoing IVF. Hum Reprod 2006; 21: 223–33.
Sermon K, De Rijcke M, Lissens W, De Vos A, Platteau P, Bonduelle
M, et al. Preimplantation genetic diagnosis for Huntington’s disease
with exclusion testing. Eur J Hum Genet 2002; 10: 591–8.
Braude PR, De Wert GM, Evers-Kiebooms G, Pettigrew RA,
Geraedts JP. Non-disclosure preimplantation genetic diagnosis
for Huntington’s disease: practical and ethical dilemmas. Prenat
Diagn 1998; 18: 1422–6.
Jasper MJ, Hu DG, Liebelt J, Sherrin D, Watson R, Tremellen
KP, et al. Singleton births after routine preimplantation genetic
diagnosis using exclusion testing (D4S43 and D4S1
The Author transfers to the Publisher (Zdravniški vestnik/Slovenian Medical Journal) all economic copyrights following form Article 22 of the Slovene Copyright and Related Rights Act (ZASP), including the right of reproduction, the right of distribution, the rental right, the right of public performance, the right of public transmission, the right of public communication by means of phonograms and videograms, the right of public presentation, the right of broadcasting, the right of rebroadcasting, the right of secondary broadcasting, the right of communication to the public, the right of transformation, the right of audiovisual adaptation and all other rights of the author according to ZASP.
The aforementioned rights are transferred non-exclusively, for an unlimited number of editions, for the term of the statutory
The Author can make use of his work himself or transfer subjective rights to others only after 3 months from date of first publishing in the journal Zdravniški vestnik/Slovenian Medical Journal.
The Publisher (Zdravniški vestnik/Slovenian Medical Journal) has the right to transfer the rights, acquired parties without explicit consent of the Author.
The Author consents that the Article be published under the Creative Commons BY-NC 4.0 (attribution-non-commercial) or comparable licence.
