Table 1. PGD cycle information per couple.
|
Genotype embryos |
||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BRCA1 couples | Protocol according to Figure 1 | Female age (years) | Carrier | Mutation | Amino-acid change | Exon | PGD cycle number | Total no. of embryos' | Not affected | Affected | Aberrant | No result | Transfer | Pregnant |
| 1 | 1 | 31 | Male | IVS13+4123ins6081 | 1 | 3 | 3 | 0 | 0 | 0 | 2 | No | ||
| 2 | Uni | 34 | Male | c.3748 G>T | p.Glu1250X | 11 | 1 | 6 | 2 | 4 | 0 | 0 | 2 | No |
| Uni | 2 | 13 | 5 | 7 | 1(h) | 0 | 2 | No | ||||||
| 3 | 1 | 30 | Female | c.68_69del | p.Glu23ValfsX17 | 2 | 1 | 12 | 4 | 3 | 4 (nc) | 1 | 2x FET (1 embryo) | No |
| Uni | 2 | 11 | 5 | 4 | 1(t)+1(nc) | 0 | 2 | Yes | ||||||
| 4 | Uni | 34 | Female | c.5266dup# | p.Glu1756ProfsX74 | 20 | 1 | 8 | 3 | 3 | 1(h) | 1 | 2 (FET) | No |
| Uni | 2 | 9 | 0 | 8 | 1(h) | 0 | 0 | No | ||||||
| 5 | Uni | 28 | Female | c.191G>A | p.Cys64Tyr | 5 | 1 | 7 | 1 | 3 | 2(h) | 1 | 1 | No |
| 6 | Uni | 28 | Female | c.2197_2201del | p.Glu733ThrfsX5 | 11 | 1 | 6 | 2 | 0 | 2(h)+1(nc)+1(r ) | 0 | 2 | Yes |
| 7 | Uni | 26 | Female | c.2338C>T | p.Gln780X | 11 | 1 | 5 | 2 | 3 | 0 | 0 | 2 | No |
| Uni | 2 | 4 | 0 | 3 | 1(h) | 0 | 0 | No | ||||||
| 8 | Uni | 27 | Female | c.2080del | p.Ser694AlafsX7 | 11 | 1 | Cancel>foll | ||||||
| Uni | 2 | 8 | 2 | 3 | 3(h) | 0 | 1 | No | ||||||
| 9 | Uni | 28 | Female | c.2685_2686del | p.Pro897LysfsX7 | 11 | 1 | 10 | 5 | 2 | 2(h) | 1 | 2 (FET) | No |
| 10 | Uni | 34 | Male | c.2685_2686del | p.Pro897LysfsX7 | 11 | 1 | 9 | 4 | 4 | 1(t) | 0 | 2 | Yes, miscarriage |
| Uni | 2 | 5 | 1 | 2 | 1(h) | 1 | 1 | No | ||||||
| 11 | Uni | 36 | Female | c.1319del# | p.Leu440X | 11 | 1 | 6 | 2 | 4 | 0 | 0 | 2 | Yes |
| 12 | 4 | 29 | Male | c.3748G>T* | p.Glu1250X* | 11 | 1 | Cancel<foll | ||||||
| 13 | 5 | 33 | Male | c.514C>T** | p.Gln172X** | 8 | 1 | Cancel<foll | ||||||
| 14 | Uni | 31 | Female | c.843_846del | p.Ser282TyrfsX15 | 11 | 1 | 2 | 1 | 0 | 1(h) | 0 | 0 | No |
| 15 | Uni | 29 | Male | c.5277+1G>A | — | — | 1 | 10 | 3 | 3 | 1(h) | 3 | 1 | No |
| BRCA2 couples | ||||||||||||||
| 1 | 3 | 37 | Female | c.7419_7420del*** | p.Cys2473X*** | 14 | 1 | 5 | 2 | 2 | 0 | 1 | 2 | No |
| 2 | 3 | 30 | Male | c.7419_7420del*** | p.Cys2473X*** | 14 | 1 | 2 | 2 | 0 | 0 | 0 | 1 | No |
| 3 | 2 | Cancel>foll | ||||||||||||
| 3 | 3 | 31 | Male | c.7419_7420del*** | p.Cys2473X*** | 14 | 1 | 4 | 2 | 2 | 0 | 0 | 2 | Yes |
| 3 | 1 (second child) | 14 | 5 | 7 | 1(h)+1(t) | 0 | 1 | Yes, after FET | ||||||
| 4 | 2 | 29 | Female | c.7618-2A>G | 1 | 7 | 2 | 5 | 0 | 1 | No | |||
| Uni | 2 | 12 | 7 | 3 | 1(h) | 1 | 1 | Yes | ||||||
| 5 | Uni | 31 | Female | c.582G>A | p.Trp194X | 7 | 1 | Cancel<foll | ||||||
| Uni | 2 | 3 | 1 | 1 | 1(h) | 0 | 1 | No | ||||||
| 6 | 2 | 28 | Male | c.5213_5216del | p.Thr1738IlefsX2 | 11 | 1 | 9 | 1 | 7 | 1 | 1 | No | |
| Uni | 2 | 7 | 4 | 2 | 0 | 1 | 2 | No | ||||||
| 7 | 2 | 25 | Female | c.7976+3del2 | 1 | 4 | 2 | 1 | 0 | 1 | 2 | No | ||
| 8 | 2 | 35 | Male | c.1310_1313del | p.Lys437IlefsX22 | 10 | 1 | 2 | 0 | 1 | 1(h) | 0 | 0 | No |
| Uni | 2 | 5 | 3 | 1 | 1(h) | 0 | 1 | Yes, sp.abortion | ||||||
| Uni | 3 | 7 | 2 | 3 | 1(h) | 1 | 1 | No | ||||||
| 9 | Uni | 29 | Female | c.3847_3848del | p.Val1283LysfsX2 | 11 | 1 | Cancel<foll | ||||||
| 10 | 2 | 33 | Female | c.462_463del | p.Asp156X | 5 | 1 | 5 | 3 | 1 | 1(nc) | 0 | 1 | Yes, sp.abortion |
| Uni | 2 | 7 | 0 | 4 (1r) | 2(h)+1(t) | 0 | 0 | No | ||||||
| Uni | 3 | Cancel<foll | ||||||||||||
| 11 | Uni | 25 | Male | c.4533del | p.Glu1511AspfsX32 | 11 | 1 | 6 | 2 | 4 | 0 | 0 | 1 | No |
| Uni | 2 | 7 | 3 | 3 | 1(nc) | 0 | 1 | No | ||||||
| 12 | Uni | 33 | Female | c.6275_6276del | p.Leu2092ProfsX7 | 11 | 1 | 5 | 3 | 2 | 0 | 0 | 1 | No |
| 13 | Uni | 29 | Female | c.9672dup | p.Tyr3225IlefsX30 | 27 | 1 | 2 | 1 | 0 | 0 | 1 | 1 | No |
| 14 | Uni | 29 | Male | c.462_463del | p.Asp156X | 1 | Cancel <foll | |||||||
| Uni | 2 | 6 | 3 | 2 | 0 | 1 | 2 | No | ||||||
| 15 | Uni | 37 | Female | c.6275_6276del | p.Leu2092ProfsX7 | 11 | 1 | 8 | 2 | 4 | 1(h) | 1 | 2 | Yes |
sp.abortion=spontaneous abortion, uni=universal protocol, */**/***=mutation-specific protocols, see Table 2 for details, #=thawed cycles,+=second child, h=haploid, t=triploid, nc=non-conclusive, r=recombination, cu=cycle cancel due to hypo-stimulation, co=cycle cancel due to hyper-stimulation, FET=frozen embryo transfer.