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
- 2
Stephenson M D.
Management of recurrent early pregnancy loss.
J Reprod Med.
2006;
51
(4)
303-310
- 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
- 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
- 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
- 6
Stephenson M D.
Frequency of factors associated with habitual abortion in 197 couples.
Fertil Steril.
1996;
66
(1)
24-29
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 26
Lee R M, Silver R M.
Recurrent pregnancy loss: summary and clinical recommendations.
Semin Reprod Med.
2000;
18
(4)
433-440
- 27
Rai R, Regan L.
Recurrent miscarriage.
Lancet.
2006;
368
(9535)
601-611
- 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
- 29
De Braekeleer M, Dao T N.
Cytogenetic studies in couples experiencing repeated pregnancy losses.
Hum Reprod.
1990;
5
(5)
519-528
- 30
Simpson J L, Elias S, Martin A O.
Parental chromosomal rearrangements associated with repetitive spontaneous abortions.
Fertil Steril.
1981;
36
(5)
584-590
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
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
