4 ms·
Carrier screening covers a really small fraction of pathogenic variants. It'll catch really catastrophic stuff but there's an enormous number of mixed-penetran
by justrealist 3y ago
Carrier screening covers a really small fraction of pathogenic variants. It'll catch really catastrophic stuff but there's an enormous number of mixed-penetrance/AD variants that people pass on because they aren't lethal.
(plus, let's be real, most prospective parents don't carrier screen. only ones about to undergo IVF where PGT-M is sometimes an option.)