Table 1 Current and imminent technologies for preimplantation genetic diagnosis
From: Preimplantation genetic diagnosis guided by single-cell genomics
Indications | PCR | FISH | aCGH | SNP array | NGS |
|---|---|---|---|---|---|
Sex selection (social or X-linked disease) | Yes | Yes* | Yes | Yes | Yes |
Aneuploidy screening | Yes | Yes*; locus specific | Yes*; generic | Yes; generic | Yes; generic |
DNA copy-number aberrations | Yes | Yes*; locus specific | Yes; generic | Yes; generic | Yes; generic |
Carriership of balanced chromosome rearrangements | No | No | No | Yes | Yes |
Single-gene disorder | Yes*; family specific | No | No | Yes; generic | Yes; generic |
De novo segmental copy-number aberrations | No | No | Yes; generic | Yes; generic | Yes; generic |
De novo base mutations | No | No | No | No | Yes; generic |
Mitochondrial mutations | Yes*; family specific | No | No | No | Yes; generic |