1. PGD for cystic fibrosis patients and couples at risk of an additional genetic disorder combined with 24-chromosome aneuploidy testing 
Svetlana Rechitsky, Oleg Verlinsky, Anver Kuliev 
Reproductive BioMedicine Online 
Volume 26, Issue 5, Pages (May 2013)
DOI: /j.rbmo
Copyright © 2013 Reproductive Healthcare Ltd. Terms and Conditions

2. Figure 1
Mutations (above) and linked markers (below) in CFTR that were used in multiplex PCR. PGD was performed for 52 mutations.
Reproductive BioMedicine Online  , DOI: ( /j.rbmo )
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3. Figure 2
PGD for two different CF mutations by sequential polar body analysis. (Upper panel) Pedigree showing that both of the parents are carriers of different CFTR mutations: the mother is a carrier of D1152H and the father is a carrier or V1282X. (Middle panel) Sequential PB1 and PB2 analysis of nine oocytes, of which three were predicted to be free of maternal mutation, five as affected and one oocyte (no. 4) with both maternal copies of the CFTR mutation extruded with PB2, predicting monosomy 7 in the resulting embryos. Embryos resulting from oocytes 3 and 8 were transferred (ET), resulting in the birth of an unaffected baby boy (see PGD in the upper panel). (Lower panel) 24-chromosome testing of the embryo resulting from oocyte 4 by trophectoderm biopsy, confirming monosomy 7 (also monosomy 18).
Reproductive BioMedicine Online  , DOI: ( /j.rbmo )
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4. Figure 3
PGD for a double-heterozygous CF-affected male patient by sequential polar body analysis. (Upper panel) Pedigree showing that the paternal partner is a double-heterozygous CF-affected patient, with two different CFTR mutations, ΔF508 and R117H, while the maternal partner is a carrier of ΔF508. (Lower panel) Sequential PB1 and PB2 analysis of eight oocytes, of which four were predicted to be free of maternal mutation and four were predicted to have the maternal mutation, two of which (oocytes 3 and 4) had heterozygous PB1 and mutant PB2, with no risk of misdiagnosis due to ADO. Two embryos resulting from oocytes 3 and 4 were transferred (ET), resulting in an unaffected twin pregnancy and birth of two healthy baby girls carrying the paternal R117H mutation.
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5. Figure 4
PGD for a double-heterozygous CF-affect female patient by blastomere analysis. (Upper panel) Pedigree, showing that the maternal partner is a double-heterozygous CF-affected patient, with two different CFTR mutations, R117H and G542X, while the paternal partner is a carrier of the 1717 mutation. (Lower panel) Blastomere testing for the three above CFTR mutations in 14 embryos, with simultaneous aneuploidy testing, using non-syntenic short tandem repeats located on chromosomes 13, 16, 18, 21, 22 and X and Y. Six embryos (nos. 3, 6, 7, 11, 15 and 17) were predicted to be carriers based on the presence of the maternal mutation and the normal paternal CFTR. Monosomy 21 was found in embryo 3, trisomy 18 and XXY was identified in embryo 4, while embryo 5 appeared to be trisomic for chromosome 13. So embryos 6 and 7 were unaffected and aneuploidy free and transferred (ET), resulting in pregnancy and birth of a healthy baby girl, confirmed to be unaffected with the genetic profile of embryo 7.
Reproductive BioMedicine Online  , DOI: ( /j.rbmo )
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6. Figure 5
Combined PGD for ΔF508 in CFTR and the Darier disease de-novo maternal mutation in ATP2A2. (Upper panel) Pedigree showing that both paternal and maternal partners are heterozygous carriers of ΔF508 mutation, while the latter also appeared to have a de-novo mutation in ATP2A2. (Middle panel) Sequential PB1 and PB2 testing for both mutations. Of 15 oocytes tested by sequential PB1 and PB2, only two oocytes (nos. 9 and 14) appeared to be free of both mutations, so the embryos resulting from these oocytes were transferred (ET), resulting in a singleton pregnancy and birth of a healthy baby girl, free of both diseases. (Lower panel) Sequential blastomere analysis of the four embryos resulting from oocytes with the ΔF508 mutation and without the deletion in ATP2A2 (one of the tested embryos was without PB results), allowing preselection of one embryo (no. 2), a carrier of the ΔF508 mutation, which was frozen for future use by the couple.
Reproductive BioMedicine Online  , DOI: ( /j.rbmo )
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7. Figure 6
Combined PGD for CF and SMA with 24-chromosome aneuploidy testing. (Upper panel) Pedigree showing that both partners are carriers of SMN1, while the father is also a carrier of ΔF508 and the mother is also a carrier of the N703S CFTR mutation. (Middle panel) Sequential PB1 and PB2 testing in five oocytes, showing that only one oocyte (no. 1) appeared to be free of both SMN1 and N703S mutations, while others were with either a CFTR or SMN1 mutation. (Lower panel) Testing of the resulting embryos, confirming unaffected status of the embryo resulting from oocyte 1, which was also aneuploidy free in array CGH analysis for 24 chromosomes. The embryos resulting from oocytes 3 and 7, although unaffected carriers of CFTR and SMA mutations, appeared to be with monosomy 5 (embryo 3) and trisomy 10 and monosomy 16 (embryo 7). The embryo resulting from oocyte 5 was affected for SMA and a carrier of ΔF508 mutation in CFTR. Finally, the embryo resulting from oocyte 6 appeared to be an unaffected carrier of ΔF508 mutation and free of aneuploidy. Therefore, two embryos (nos. 1 and 6) were transferred (ET), resulting in a twin pregnancy and birth of two unaffected carriers of SMA and CF.
Reproductive BioMedicine Online  , DOI: ( /j.rbmo )
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