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A healthy live birth after successful preimplantation genetic diagnosis for carriers of complex chromosome rearrangements.

Abstract：

OBJECTIVE:To report a live birth after successful preimplantation genetic diagnosis (PGD) for carriers of complex chromosomal rearrangements (CCRs) with translocation and deletion. DESIGN:Fluorescent in situ hybridization (FISH) was applied to PGD for CCR carriers. SETTING:University-based centers for reproductive medicine. PATIENT(S):Three CCR carriers, patient A with 46,XX,t(6;10;8)(q25.1;q21.1;q21.1), patient B with 46,X,del(X)(p22.3),t(2;18)(q14.1;q21)[48]/45,X, t(2;18)(q14.1;q21)[12], and patient C with 46,XY,t(5;13;8)(q21.2;q14.3;q24.3). INTERVENTION(S):Balanced or normal embryos were diagnosed by PGD and transferred. MAIN OUTCOME MEASURE(S):Diagnosis rate of FISH, pregnancy outcome, and karyotype of amniocentesis. RESULT(S):Blastomeres were biopsied from 56 embryos in four PGD cycles, and 54 embryos (96.4%) were successfully diagnosed by FISH. Among them, four embryos were diagnosed as transferable in two cycles of patient B and one cycle of patient C. After three cycles of embryo transfer, a pregnancy was achieved in the second PGD cycle of patient B, and the karyotype of amniocentesis was 46,XY,t(2;18)(q14.1;q21). A healthy baby was delivered at 40 weeks of gestation by cesarean section. CONCLUSION(S):This is the first report for a live birth after PGD in the CCR carriers associated with translocation and deletion, 46,X,del(X)(p22.3),t(2;18)(q14.1;q21)[48]/45,X,t(2;18)(q14.1;q21)[12]. Preimplantation genetic diagnosis for CCRs needs more consideration and advanced techniques for full karyotyping.

journal_name

Fertil Steril

journal_title

Fertility and sterility

authors

Lim CK,Cho JW,Kim JY,Kang IS,Shim SH,Jun JH

doi

10.1016/j.fertnstert.2007.08.016

subject

Has Abstract

pub_date

2008-11-01 00:00:00

pages

1680-4

issue

5

eissn

0015-0282

issn

1556-5653

pii

S0015-0282(07)03159-7

journal_volume

90

pub_type

杂志文章

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