Table 3. Types of decision-making.

Types of decision-making	Condition	Example quotes
Continue without further testing	Mild to moderate hemophilia, CAH.	‘When I first discussed it with them, when they sort of said, ‘oh a test to sex the baby' and things, I thought it was an invasive test and I knew I didn't want to do that … I wouldn't be willing to, sort of, terminate a pregnancy.' Linda – hemophilia carrier
Invasive testing if necessary	Moderate to severe hemophilia, DMD, ALD, x-linked hydrocephalus, X-SCID, Pelizaeus-Merzbacher disease, AIS, X-linked mental retardation.	‘I knew I was going to have an invasive test if it was a boy.' Susan – hemophilia carrier. ‘Dad finally got diagnosed with adrenoleukodystrophy and that was an exceedingly unpleasant period in his life. It was absolutely horrible … You wouldn't put your worst enemy through that … so I would have had the invasive as I wouldn't have a boy with ALD.' Ruth – ALD carrier
Undecided	Mild to moderate hemophilia, moderate to severe hemophilia, BMD, CMT.	‘Each baby step was so helpful in having the discussions. I think with the second one, if I'm honest, I think I'd have been more likely to terminate. With the third one, whether it's because I'd had two miscarriages, you start to question the whole thing … but again, you can only reach that decision once you've taken those steps. I couldn't have said that at the start.' Cathy – hemophilia carrier ‘And I think that's the key is that once you know the sex you can either put it to the back of your mind or think right now I've got to go through the next stage and I think you can take it more in bits and pieces rather than it all in one go.' Trish – DMD carrier

Abbreviations: AIS, androgen insensitivity syndrome; ALD, adrenoleukodystrohy; CAH, congenital adrenal hyperplasia; CMT, charcot-Marie Tooth disease; DMD, Duchenne muscular dystrophy; SCID, severe combined immunodeficiency; X-SCID, X-linked severe combined immunodeficiency.