Table 5.
Congenital disorder group | Baseline Births 2012 | Outcomes with no care | Estimated outcomes with current care 2012 | Change with current care | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Still-births | U5 Deaths (CDs) | Survivors @ 5 years (disabled) | Affected births prevented | TOP | Actual births | Still-births | U5 Deaths (CDs) | Survivors @ 5 years (cured) | Survivors @ 5 years (disabled) | Affected births | Still-births | U5 deaths (CDs) | Survivors @ 5 years (cured) | Survivors @5 years (disabled) | ||
Single-gene disorders | ||||||||||||||||
Baseline single-gene | 5210 | 215 | 3720 | 1110 | 0 | 145 | 5065 | 205 | 2965 | 0 | 1725 | − 145 | − 10 | − 755 | 0 | 615 |
Consanguinity increment | 230 | 35 | 160 | 30 | 0 | 10 | 220 | 35 | 120 | 0 | 60 | − 10 | 0 | − 40 | 0 | 30 |
Oculocutaneous albinism | 290 | 0 | 0 | 275 | 0 | 0 | 290 | 0 | 0 | 0 | 275 | 0 | 0 | 0 | 0 | 0 |
Total single gene | 5730 | 250 | 3880 | 1415 | 0 | 155 | 5575 | 240 | 3085 | 0 | 2060 | − 155 | − 10 | − 795 | 0 | 645 |
Chromosomal disorders | ||||||||||||||||
Down syndrome | 2125 | 105 | 1220 | 745 | 0 | 235 | 1890 | 95 | 810 | 0 | 930 | − 235 | − 10 | − 410 | 0 | 185 |
Other trisomies | 865 | 475 | 385 | 0 | 0 | 260 | 610 | 335 | 270 | 0 | 0 | − 255 | − 140 | − 115 | 0 | 0 |
Rare chromosomal | 855 | 75 | 505 | 260 | 0 | 155 | 700 | 60 | 360 | 0 | 265 | − 155 | − 15 | − 145 | 0 | 5 |
Turners syndrome | 260 | 55 | 5 | 195 | 0 | 70 | 195 | 40 | 5 | 0 | 145 | − 65 | − 15 | 0 | 0 | − 50 |
Klinefelter syndrome | 1050 | 30 | 10 | 965 | 0 | 0 | 1050 | 30 | 10 | 0 | 965 | 0 | 0 | 0 | 0 | 0 |
Total chromosomal | 5155 | 740 | 2,125 | 2165 | 0 | 720 | 4 445 | 560 | 1455 | 0 | 2305 | − 710 | − 180 | − 670 | 0 | 140 |
Malformations (isolated) | ||||||||||||||||
Congenital heart disease | 3895 | 35 | 3095 | 690 | 190 | 40 | 3660 | 35 | 2005 | 910 | 620 | − 235 | 0 | − 1090 | 910 | − 70 |
Neural tube defects | 1355 | 305 | 1000 | 40 | 270 | 200 | 885 | 180 | 565 | 0 | 130 | − 470 | − 125 | − 435 | 0 | 90 |
Oral facial clefts | 280 | 5 | 225 | 50 | 25 | 0 | 260 | 5 | 135 | 75 | 40 | − 20 | 0 | − 90 | 75 | − 10 |
Very severe other | 8430 | 240 | 6650 | 1395 | 0 | 465 | 7965 | 225 | 4725 | 1450 | 1380 | − 465 | − 15 | − 1925 | 1450 | − 15 |
Less severe other | 6060 | 40 | 285 | 5475 | 0 | 80 | 5980 | 40 | 230 | 1845 | 3605 | − 80 | 0 | − 55 | 1845 | − 1870 |
Additional conditions | 1285 | 0 | 970 | 280 | 0 | 0 | 1290 | 0 | 630 | 440 | 180 | 5 | 0 | − 340 | 440 | − 100 |
Total malformations | 21,305 | 625 | 12,225 | 7 930 | 485 | 785 | 20,040 | 485 | 8290 | 4720 | 5955 | − 1265 | − 140 | − 3935 | 4720 | − 1975 |
Total CDs | 32,190 | 1615 | 18,230 | 11,510 | 485 | 1660 | 30,060 | 1285 | 12,830 | 4720 | 10,320 | − 2130 | − 330 | − 5 400 | 4720 | − 1190 |
Proportion (%) | 100% | 5% | 57% | 36% | 2% | 5% | 93% | 4% | 40% | 15% | 32% | − 7% | − 1% | − 17% | 15% | − 4% |