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. 2021 Mar 5;12(3):357–376. doi: 10.1007/s12687-021-00513-8

Table 5.

Estimated baseline and actual outcomes with access to care and difference from no care situation for South Africa 2012 (numbers rounded to nearest multiples of 5). The total of the proportions do not equal 100% due to the exclusion of U5 deaths from other causes in this table

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%