TABLE 1.
Participant pseudonym, gender, age, relationship to fragile X syndrome, and attitudes toward screening
| No. | Name | Gender | Age | Relationship to fragile X | Wider family links to fragile X | Preconception screening | Prenatal screening | Newborn Screening |
|---|---|---|---|---|---|---|---|---|
| 1 | Malcolm | M | 56 | Parent of 23‐year‐old son with FXS and unaffected daughter (donor conception) | None known | ✓✓ | ✓✓ | ✓✓ |
| 2 | Judy | F | 51 | Parent of 23‐year‐old son with FXS and unaffected daughter (donor conception). Wife of Malcolm | Cousin has FXS. Father has premutation | ✓ | ✓✓ | XX |
| 3 | Mary | F | 75 | Spouse has FXTAS | Brother has FXS. Step‐granddaughter with FXS | ✓✓ | XX | ✓✓ |
| 4 | Sue | F | 74 | Has FXTAS | Sister has FXTAS. Has two grandsons with FXS | ✓✓ | X | ✓✓ |
| 5 | Ali | F | 48 | Premutation carrier, 2 unaffected daughters | One nephew and two nieces with FXS | ✓ | XX | ✓ |
| 6 | Elisabete | F | 31 | Mother of 3‐year‐old boy with FXS and unaffected daughter (prenatal testing) | None known | ✓ | ✓✓ | XX |
| 7 | Emma | F | 34 | Mother of 14‐year‐old boy with FXS and unaffected daughter (PGD) | Sister premutation carrier | ✓✓ | ✓✓ | XX |
| 8 | Luca | M | 17 | Has FXS | Grandfather has FXTAS | ✓✓ | XX | ✓✓ |
| 9 | Chiara | F | 43 | Mother of Luca (with FXS). Also has unaffected son (no prenatal testing) | Father has FXTAS. First cousin once removed has FXS | ✓ | XX | ✓✓ |
| 10 | Joanne | F | 47 | Mother of two daughters with FXS (15, 12) | Sister has son with FXS | ✓✓ | XX | ✓ |
| 11 | Valerie | F | 66 | Mother of son (33) and daughter (29) both with FXS (no prenatal testing) | Cousin with FXTAS and daughter with FXS | ✓✓ | XX | ✓ |
| 12 | Jane | F | 58 | Mother of son (25) and daughter (23) both with FXS. Also unaffected son (20) and daughter (19)(no prenatal testing) |
Grandson (son of daughter, 23, with FXS) has FXS. Sister has daughter with FXS. First cousin once removed has son with FXS |
✓ | X | ✓✓ |
| 13 | Sally‐Anne | F | 47 | Mother of two daughters (15 and 11) with FXS. (no prenatal testing) |
Father has FXTAS. Cousin has son with FXS |
✓✓ | XX | ✓✓ |
| 14 | Zoe | F | 40 | Premutation carrier with carrier son (16) and unaffected daughter (12) | Two brothers with FXS | ✓ | XX | ✓✓ |
| 15 | Holly | F | 26 | Has FXS |
Sister has FXS. Two male cousins have FXS |
✓✓ | — | ✓✓ |
| 16 | Rachel | F | 38 | Mother of boy (10) with FXS and unaffected boy (2) (no prenatal testing) |
Father had FXTAS (deceased). Aunt and uncle both premutation carriers. Six cousins all premutation carriers. Two cousins have sons with FXS and a third cousin currently pregnant with a boy with FXS |
✓ | XX | ✓ |
| 17 | Tony | M | 65 | Grandparent of boy (7) with FXS | None known | ✓✓ | — | ✓✓ |
| 18 | Moira | F | 60 | Grandparent of boy (10) with FXS | Both daughters’ premutation carriers | ✓ | XX | ✓ |
| 19 | Kathryn | F | 37 | Mother of son (4) with FXS (undergoing PGD) |
Sister has daughter with FXS. Cousin has son with FXS |
✓✓ | ✓✓ | ✓✓ |
✓✓, support for screening; ✓, ambivalent support for screening; XX, non‐support for screening; X, ambivalent non‐support for screening; —, neutral/unable to take a view.
Abbreviations: FXS, Fragile X syndrome; FXTAS, Fragile X‐associated tremor/ataxia syndrome; PGD, Pre‐implantation Genetic Diagnosis.