Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing of human blastocysts.
OBJECTIVE
To compare multiple-cell trophectoderm biopsy for preimplantation genetic diagnosis (PGD) from day-5 blastocysts with previously published experience with day-3 cleavage-stage embryos.


METHODS
Retrospective review of laboratory and clinical experience.


METHODS
Sydney IVF, a private clinic in Australia.


METHODS
Preimplantation genetic diagnosis (PGD) patients age < 44 years with at least one IVF blastocyst suitable for biopsy, recruited from January 2002 through August 2004.


METHODS
Biopsy of trophectoderm from blastocysts on day 5 or 6, with same-day PGD for mutation testing, translocation testing, aneuploidy screening or sex selection. Spare, normal biopsied blastocysts were cryostored for possible later transfer.


METHODS
Fetal heart-positive pregnancy rate and accumulating live birth rate after adding results from biopsied fresh and frozen blastocysts for particular couples.


RESULTS
In 231 started PGD treatment cycles, unambiguous results were obtained from 974 of 1,050 biopsied blastocysts (93%); all blastocysts survived the biopsy procedure by reconstitution of their blastocele. One hundred nineteen women (median age, 36 years) have had 127 blastocysts transferred fresh (fetal heart-positive implantation rate, 41%). Of 146 blastocysts cryostored, 27 have been thawed (all with > 50% cell survival) and 24 transferred (implantation rate, 26%). To date, 53 pregnancies have been delivered or are ongoing, with an additional 4 clinical miscarriages (7%) and 6 subclinical miscarriages (total miscarriage rate, including biochemical pregnancies, 16%). There were no twin pregnancies.


CONCLUSIONS
With technically appropriate blastocyst culture and freezing, blastocyst biopsy and cryostorage and later transfer of biopsied blastocysts is shown to be a practical and probably preferable path to preimplantation genetic testing of embryos compared with cleavage-stage embryo biopsy, being accompanied by a high implantation rate (and hence more conducive to elective single embryo transfer) and by a low rate of twinning and miscarriage.
McArthur
Steven J
SJ
Sydney IVF, Sydney, New South Wales, Australia.
Leigh
Don
D
Marshall
James T
JT
de Boer
Kylie A
KA
Jansen
Robert P S
RP
D000782:Aneuploidy; D001706:Biopsy; D001757:Blastomeres / Q000473:pathology*; D002970:Cleavage Stage, Ovum / Q000473:pathology*; D015925:Cryopreservation; D046149:Embryo Culture Techniques; D004624:Embryo Transfer; D005260:Female; D005820:Genetic Testing; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011256:Pregnancy Outcome; D011272:Pregnancy, Multiple; D019836:Preimplantation Diagnosis / Q000379:methods*; D012189:Retrospective Studies; D012743:Sex Preselection; D014327:Trophoblasts / Q000166:cytology*; D014427:Twins