Sialic acid measurements in SASD patients
| Patient (GA or age at determination) | Sialic acid in biological fluids* | Sialic acid in cultured cells† (nmol/mg) | Affected fetuses/further prenatal diagnosis | |||||
|---|---|---|---|---|---|---|---|---|
| Free | Free | Free/total | ||||||
| *U, urines (mg/mmol creatine); AF, amniotic fluid (nmol/ml); †AFC, amniotic fluid cells F, fibroblasts; ‡ after medical termination; sub, subculture. | ||||||||
| 1 (5 months) | 350 (U) | 97 (F) | 1.0 | 0/1 | ||||
| 128 (F) | 1.0 | |||||||
| 2.a (1 months) | 307 (U) | 37 (F) | 0.82 | 1/1 | ||||
| 2.b (13 GA‡) | 49 (F) | 0.93 | ||||||
| 3 (1 months) | 677 (U1) | 85 (F) | 0.99 | 0/2 | ||||
| 232 (U2) | 94 (F) | 0.88 | ||||||
| 4 (22 days) | 400 (U) | 107 (F) | 0.81 | 0/0 | ||||
| 5 (26 GA) | 90 (AF) | 19 (F sub 2) | 0.98 | 1/6 | ||||
| 79 (F sub 5) | 0.84 | |||||||
| 6 (22 GA) | 30 (AF) | 31 (AFC) | 0.92 | 0/0 | ||||
| 7 (21 GA) | 56 (AF) | 21 (AFC) | 0.66 | 2/2 | ||||
| 8 (21 GA) | 40 (AF) | 33 (AFC sub 4) | 0.79 | 0/2 | ||||
| 59 (AFC sub 5) | 0.94 | |||||||
| 9 (17 GA) | 23 (AF) | 45 (AFC) | 0.71 | 0/1 | ||||
| 71 (F) | 0.67 | |||||||
| 10 (34 GA) | 38 (F) | 0.57 | 0/0 | |||||
| 29 (F) | 0.50 | |||||||
| 11 (18 GA) | 55 (AF) | 57 (AFC) | 0.84 | 0/1 | ||||
| 12 (22 GA) | 55 (AF) | 59 (AFC) | 0.80 | 0/0 | ||||
| Usual values | U 1–6 months: | F: 1.9 | F: 0.13 | |||||
| 17 (8–33) | (0.4–4.2) | (0.05–0.30) | ||||||
| AF 14–18 GA: | AFC: 1.7 | AFC: 0.11 | ||||||
| 7.8 (5.3–10.8) | (0.5–5.7) | (0.02–0.35) | ||||||
| AF 20–32 GA: | ||||||||
| 12.9 (6.2–26.3) | ||||||||