Table 1.
Participants’ age, sex, prenatal testing indication, time of follow up interview after disclosure and array results with mode of inheritance; inherited from the mother (mat), de novo (dn), unknown in cases where parents refused testing (ukn)
| Fetus | Participant | Age | Sex | Indication | Follow-up (months) | CNV (hg18) and inheritance |
|---|---|---|---|---|---|---|
| A | 1 | 41 | F | AMA | 9 | 15q11.2 (20,191,584-20,710,960) x1 mat |
| B | 2 | 41 | F | aFTS | 13 | 22q11.21 (17,249,767-19,959,004) x3 ukn |
| C | 3 | 35 | F | aFTS | 8 | 16p11.2 (29,548,278-30,171,562) x3 dn |
| 4 | 35 | M | ||||
| D | 5 | 23 | F | aFTS | 15 | 15q11.2 (20,191,584-20,698,860) x1 ukn |
| 6 | 33 | M | ||||
| E | 7a | 38 | F | AMA | 4 | 15q11.2 (20,191,584-20,698,860) x1 dn |
| 8 | 37 | M | ||||
| F | 9a | 37 | F | AMA | 5 | 1q21.1 (144,959,767-146,307,651) x1 dn |
| G | 10a | 37 | F | aFTS | 3 | 15q11.2 (20,070,582-20,718,150) x1 mat |
| 11 | 38 | M | ||||
| H | 12 | 39 | F | aFTS + AMA | 15 | 3q29 (197,141,069-198,793,022) x3 mat |
AMA advanced maternal age, aFTS abnormal first-trimester combined test
aStill pregnant during the interview