RSS-Feed abonnieren
DOI: 10.1055/s-0031-1293201
Management of Recurrent Pregnancy Loss Associated with a Parental Carrier of a Reciprocal Translocation: A Systematic Review
Publikationsverlauf
Publikationsdatum:
08. Dezember 2011 (online)

ABSTRACT
This study reviews systematically the effectiveness of management strategies for carriers of a reciprocal translocation involving two chromosomes, ascertained on the basis of recurrent pregnancy loss. Subsequent pregnancy outcomes were tabulated based on whether management was medical or involved in vitro fertilization/preimplantation genetic diagnosis (IVF/PGD). A total of 129 cases from 13 articles met the criteria, of which 89% were managed medically. Before management, the overall live birthrate was 4% (19 of 484 pregnancies). Management was medical in 109 cases and IVF/PGD in 20 cases. Cumulative live birthrate was 74% (81 of 109 cases) in the medical management group and 35% (7 of 20) in the IVF/PGD group. Based on this systematic review, successful pregnancy outcomes are high following either medical management or IVF/PGD for carriers of a reciprocal translocation, ascertained on the basis of recurrent pregnancy loss. But it is difficult to compare outcomes directly for these two strategies because of the different end points reported. Understanding the differences is essential for effective counseling. Until a well-designed study comparing the two strategies is performed, or at least prospective cohort studies with strict entry criteria and definitions, the cumulative experience and success of both medical management and IVF/PGD must be used to counsel patients who are carriers of a reciprocal translocation, ascertained on the basis of recurrent pregnancy loss.
KEYWORDS
Reciprocal translocation - recurrent pregnancy loss - recurrent miscarriage - in vitro fertilization - preimplantation genetic diagnosis
REFERENCES
- 1
Roman E.
Fetal loss rates and their relation to pregnancy order.
J Epidemiol Community Health.
1984;
38
(1)
29-35
Reference Ris Wihthout Link
- 2
Stephenson M D.
Management of recurrent early pregnancy loss.
J Reprod Med.
2006;
51
(4)
303-310
Reference Ris Wihthout Link
- 3
Goddijn M, Joosten J H, Knegt A C et al..
Clinical relevance of diagnosing structural chromosome abnormalities in couples with
repeated miscarriage.
Hum Reprod.
2004;
19
(4)
1013-1017
Reference Ris Wihthout Link
- 4
Sugiura-Ogasawara M, Aoki K, Fujii T et al..
Subsequent pregnancy outcomes in recurrent miscarriage patients with a paternal or
maternal carrier of a structural chromosome rearrangement.
J Hum Genet.
2008;
53
(7)
622-628
Reference Ris Wihthout Link
- 5
Sugiura-Ogasawara M, Ozaki Y, Sato T, Suzumori N, Suzumori K.
Poor prognosis of recurrent aborters with either maternal or paternal reciprocal translocations.
Fertil Steril.
2004;
81
(2)
367-373
Reference Ris Wihthout Link
- 6
Stephenson M D.
Frequency of factors associated with habitual abortion in 197 couples.
Fertil Steril.
1996;
66
(1)
24-29
Reference Ris Wihthout Link
- 7
Stephenson M D, Sierra S.
Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier
of a structural chromosome rearrangement.
Hum Reprod.
2006;
21
(4)
1076-1082
Reference Ris Wihthout Link
- 8
Carp H, Feldman B, Oelsner G, Schiff E.
Parental karyotype and subsequent live births in recurrent miscarriage.
Fertil Steril.
2004;
81
(5)
1296-1301
Reference Ris Wihthout Link
- 9
Franssen M T, Korevaar J C, van der Veen F, Leschot N J, Bossuyt P M, Goddijn M.
Reproductive outcome after chromosome analysis in couples with two or more miscarriages:
index [corrected]-control study.
BMJ.
2006;
332
(7544)
759-763
Reference Ris Wihthout Link
- 10
Fischer J, Colls P, Escudero T, Munné S.
Preimplantation genetic diagnosis (PGD) improves pregnancy outcome for translocation
carriers with a history of recurrent losses.
Fertil Steril.
2010;
94
(1)
283-289
Reference Ris Wihthout Link
- 11
Verlinsky Y, Tur-Kaspa I, Cieslak J et al..
Preimplantation testing for chromosomal disorders improves reproductive outcome of
poor-prognosis patients.
Reprod Biomed Online.
2005;
11
(2)
219-225
Reference Ris Wihthout Link
- 12
Otani T, Roche M, Mizuike M, Colls P, Escudero T, Munné S.
Preimplantation genetic diagnosis significantly improves the pregnancy outcome of
translocation carriers with a history of recurrent miscarriage and unsuccessful pregnancies.
Reprod Biomed Online.
2006;
13
(6)
869-874
Reference Ris Wihthout Link
- 13
Ozawa N, Maruyama T, Nagashima T et al..
Pregnancy outcomes of reciprocal translocation carriers who have a history of repeated
pregnancy loss.
Fertil Steril.
2008;
90
(4)
1301-1304
Reference Ris Wihthout Link
- 14
Escudero T, Estop A, Fischer J, Munne S.
Preimplantation genetic diagnosis for complex chromosome rearrangements.
Am J Med Genet A.
2008;
146A
(13)
1662-1669
Reference Ris Wihthout Link
- 15
Coonen E, Martini E, Dumoulin J C et al..
Preimplantation genetic diagnosis of a reciprocal translocation t(3;11)(q27.3;q24.3)
in siblings.
Mol Hum Reprod.
2000;
6
(3)
199-206
Reference Ris Wihthout Link
- 16
Escudero T, Lee M, Sandalinas M, Munné S.
Female gamete segregation in two carriers of translocations involving 2q and 14q.
Prenat Diagn.
2000;
20
(3)
235-237
Reference Ris Wihthout Link
- 17
Jobanputra V, Chung W K, Hacker A M, Emanuel B S, Warburton D.
A unique case of der(11)t(11;22),-22 arising from 3:1 segregation of a maternal t(11;22)
in a family with co-segregation of the translocation and breast cancer.
Prenat Diagn.
2005;
25
(8)
683-686
Reference Ris Wihthout Link
- 18
Lim C K, Cho J W, Kim J Y, Kang I S, Shim S H, Jun J H.
A healthy live birth after successful preimplantation genetic diagnosis for carriers
of complex chromosome rearrangements.
Fertil Steril.
2008;
90
(5)
1680-1684
Reference Ris Wihthout Link
- 19
Munné S, Morrison L, Fung J et al..
Spontaneous abortions are reduced after preconception diagnosis of translocations.
J Assist Reprod Genet.
1998;
15
(5)
290-296
Reference Ris Wihthout Link
- 20
Munné S, Sandalinas M, Escudero T, Fung J, Gianaroli L, Cohen J.
Outcome of preimplantation genetic diagnosis of translocations.
Fertil Steril.
2000;
73
(6)
1209-1218
Reference Ris Wihthout Link
- 21
Munné S, Scott R, Sable D, Cohen J.
First pregnancies after preconception diagnosis of translocations of maternal origin.
Fertil Steril.
1998;
69
(4)
675-681
Reference Ris Wihthout Link
- 22
Pal S, Ma S O, Norhasimah M et al..
Chromosomal abnormalities and reproductive outcome in Malaysian couples with miscarriages.
Singapore Med J.
2009;
50
(10)
1008-1012
Reference Ris Wihthout Link
- 23
Simopoulou M, Harper J C, Fragouli E et al..
Preimplantation genetic diagnosis of chromosome abnormalities: implications from the
outcome for couples with chromosomal rearrangements.
Prenat Diagn.
2003;
23
(8)
652-662
Reference Ris Wihthout Link
- 24
Wiland E, Hobel C J, Hill D, Kurpisz M.
Successful pregnancy after preimplantation genetic diagnosis for carrier of t(2;7)(p11.2;q22)
with high rates of unbalanced sperm and embryos: a case report.
Prenat Diagn.
2008;
28
(1)
36-41
Reference Ris Wihthout Link
- 25
Willadsen S, Levron J, Munné S et al..
Rapid visualization of metaphase chromosomes in single human blastomeres after fusion
with in-vitro matured bovine eggs.
Hum Reprod.
1999;
14
(2)
470-475
Reference Ris Wihthout Link
- 26
Lee R M, Silver R M.
Recurrent pregnancy loss: summary and clinical recommendations.
Semin Reprod Med.
2000;
18
(4)
433-440
Reference Ris Wihthout Link
- 27
Rai R, Regan L.
Recurrent miscarriage.
Lancet.
2006;
368
(9535)
601-611
Reference Ris Wihthout Link
- 28
Stephenson M D, Awartani K A, Robinson W P.
Cytogenetic analysis of miscarriages from couples with recurrent miscarriage: a case-control
study.
Hum Reprod.
2002;
17
(2)
446-451
Reference Ris Wihthout Link
- 29
De Braekeleer M, Dao T N.
Cytogenetic studies in couples experiencing repeated pregnancy losses.
Hum Reprod.
1990;
5
(5)
519-528
Reference Ris Wihthout Link
- 30
Simpson J L, Elias S, Martin A O.
Parental chromosomal rearrangements associated with repetitive spontaneous abortions.
Fertil Steril.
1981;
36
(5)
584-590
Reference Ris Wihthout Link
- 31
Stephenson M D, Goddijn M.
A critical look at the evidence does not support PGD for translocation carriers with
a history of recurrent losses.
Fertil Steril.
2011;
95
(1)
e1, author reply e2
Reference Ris Wihthout Link
- 32
Goossens V, Harton G, Moutou C European Society of Human Reproduction and Embryology PGD Consortium et al.
ESHRE PGD Consortium data collection VIII: cycles from January to December 2005 with
pregnancy follow-up to October 2006.
Hum Reprod.
2008;
23
(12)
2629-2645
Reference Ris Wihthout Link
- 33
Goossens V, Harton G, Moutou C, Traeger-Synodinos J, Van Rij M, Harper J C.
ESHRE PGD Consortium data collection IX: cycles from January to December 2006 with
pregnancy follow-up to October 2007.
Hum Reprod.
2009;
24
(8)
1786-1810
Reference Ris Wihthout Link
- 34
Harper J C, de Die-Smulders C, Goossens V et al..
ESHRE PGD consortium data collection VII: cycles from January to December 2004 with
pregnancy follow-up to October 2005.
Hum Reprod.
2008;
23
(4)
741-755
Reference Ris Wihthout Link
- 35
Barlow D H.
The design, publication and interpretation of research in Subfertility Medicine: uncomfortable
issues and challenges to be faced.
Hum Reprod.
2003;
18
(5)
899-901
Reference Ris Wihthout Link
- 36
Grimes D A, Schulz K F, Raymond E G.
Surrogate end points in women's health research: science, protoscience, and pseudoscience.
Fertil Steril.
2010;
93
(6)
1731-1734
Reference Ris Wihthout Link
- 37
Franssen M T, Musters A M, van der Veen F et al..
Reproductive outcome after PGD in couples with recurrent miscarriage carrying a structural
chromosome abnormality: a systematic review.
Hum Reprod Update.
2011;
17
(4)
467-475
Reference Ris Wihthout Link
- 38
Musters A M, Repping S, Korevaar J C et al..
Pregnancy outcome after preimplantation genetic screening or natural conception in
couples with unexplained recurrent miscarriage: a systematic review of the best available
evidence.
Fertil Steril.
2011;
95
(6)
2153-2157, 2157, e1–e3
Reference Ris Wihthout Link
Mary D. StephensonM.D. M.Sc.
Department of Obstetrics and Gynecology, University of Chicago
5841 S. Maryland Avenue (MC 2050), Chicago, IL 60637
eMail: mstephen@babies.bsd.uchicago.edu