1. PGD for inherited cardiac diseases
Anver Kuliev, Ekaterina Pomerantseva, Dana Polling, Oleg Verlinsky, Svetlana Rechitsky 
Reproductive BioMedicine Online 
Volume 24, Issue 4, Pages (April 2012)
DOI: /j.rbmo
Copyright © 2012 Reproductive Healthcare Ltd. Terms and Conditions

2. Figure 1
PGD for dilated cardiomyopathy (CMD), determined by the dominant mutation R335T in LMNA. (A) Family pedigree of a couple with affected husband carrying the R335T mutation in LMNA. Paternal linked polymorphic markers are shown on the left and maternal on the right, and the order of the markers and mutation in LMNA are shown on the far left. (B) Blastomere results revealed two embryos carrying the R335T mutation in LMNA (embryos 9 and 12), while nine embryos were free of the mutation. Two of these embryos (1 and 8) were transferred, resulting in a singleton pregnancy and the birth of a healthy child without the predisposing gene to CMD (as indicated in the family pedigree by PGD). ET=embryo transfer; FA=failed amplification; FR=frozen.
Reproductive BioMedicine Online  , DOI: ( /j.rbmo )
Copyright © 2012 Reproductive Healthcare Ltd. Terms and Conditions

3. Figure 2
PGD for hypertrophic cardiomyopathy (CMH). (A,B) PGD for CMH4. (A) Family pedigree of a couple with affected mother carrying the frameshift mutation D1076fs in MYBPC3. Paternal linked polymorphic markers are shown on the left and maternal on the right, and the order of the markers and frameshift mutation in MYBPC3 are shown on the far left. (B) Blastomere results revealed three embryos (embryos 7, 9 and 10) carrying the frameshift mutation D1076fs in MYBPC3, three unaffected embryos and one embryo that did not amplify. Two of the normal embryos were transferred (embryos 3 and 8), following cryopreservation (frozen embryo transfer, FET), resulting in an unaffected pregnancy (as indicated in the family pedigree by PGD). (C,D) PGD for CMH7. (A) Family pedigree of a couple with affected father carrying the A157V mutation in TNNI3. Paternal linked polymorphic markers are shown on the left and maternal on the right, and the order of the markers and mutation in TNNI3 are shown on the far left. (B) Blastomere results revealed three mutation-free embryos, based on the testing of the mutation and six polymorphic markers (embryos 4, 5 and 11), seven mutant embryos and one embryo that did not amplify. Unaffected embryos were tested for 24 chromosome aneuploidy at the blastocyst stage, of which one (embryo 4) was euploid and transferred in the subsequent cycle. FA=failed amplification; FET=frozen embryo transfer; FR=frozen.
Reproductive BioMedicine Online  , DOI: ( /j.rbmo )
Copyright © 2012 Reproductive Healthcare Ltd. Terms and Conditions

4. Figure 3
PGD for cardioencephalomyopathy. (A) Family pedigree of a couple with a previous affected child, who was double heterozygous for E140K and R262del(CA) in SCO2. Paternal polymorphic markers are shown on the left and maternal on the right, with the order of the markers and mutation shown on the far left. (B) Blastomere results revealed two homozygous affected embryos (embryos 1 and 2), two carriers of the paternal mutation (embryos 4 and 7), four mutation-free embryos (embryos 3, 5, 6 and 8) and one embryo monosomic for chromosome 22 (embryo 9), based on the testing of the mutation and six polymorphic markers. Two mutation-free embryos (embryos 3 and 5) were transferred, resulting in a singleton pregnancy and the birth of an unaffected child (as indicated in the family pedigree by PGD). ET=embryo transfer.
Reproductive BioMedicine Online  , DOI: ( /j.rbmo )
Copyright © 2012 Reproductive Healthcare Ltd. Terms and Conditions

5. Figure 4
PGD for Emery–Dreifus muscular dystrophy (EMD). (A) Family pedigree of a couple with mother (II-2) carrying X-linked EMD–IVS2+1G–T mutation, inherited from her father (I-1). Paternal polymorphic markers are shown on the left and maternal on the right, with the order of the markers and mutation shown on the far left. The haplotypes for the patient’s father (I-1) are also shown on the left. (B) Sequential first and second polar body analysis resulted in eight mutation-free oocytes, five mutant oocytes (2, 4, 5, 9 and 10) and two oocytes that did not amplify (1 and 13). (C) Blastomere results of seven resulting embryos for gender determination by fluorescent in-situ hybridization and PCR showed that embryos resulting from mutant oocytes 4, 5 and 9 were males and therefore affected, so only embryos 6 and 11 originating from mutation-free oocytes, regardless of X,Y genotype, were transferred, resulting in a singleton pregnancy and the birth of an unaffected child (as indicated in the family pedigree by PGD). ET=embryo transfer; FA=failed amplification.
Reproductive BioMedicine Online  , DOI: ( /j.rbmo )
Copyright © 2012 Reproductive Healthcare Ltd. Terms and Conditions