Table 1 Background data of the study cohort
Patient (metabolic center) | Gender | Current age (y) | Age at diagnosis | NBS+ | Decompensation at diagnosis. | Pregnancy | Birth mode | GA |
|---|---|---|---|---|---|---|---|---|
Patients born before introduction of LCHADD into NBS program, diagnosed clinically | ||||||||
1 (Munich) | M | 15.3 | 5 m | no* | yes | HELLP | CS | 37 weeks |
2 (Innsbruck) | M | 14.1 | 23 m | no* | yes | normal | CS | 38 weeks |
3 (Graz) | F | 12.2 | 3 m | no* | yes | normal | vaginal | Term |
Patients born after introduction of LCHADD into NBS program (group 1-3): | ||||||||
Group 1: patients showing symptoms before NBS results were available: | ||||||||
4 (Innsbruck) | F | 7.8 | 15 d | yes | (yes) | IUD | CS | 32 weeks |
5 (Vienna) | M | 7.3 | 15 d | yes | (yes) | normal | vaginal | 35 weeks |
6 (Innsbruck) | M | 2.7 | 15 d | yes | (yes) | IUD | CS | 32 weeks# |
Group 2: patients with false negative NBS results: | ||||||||
7 (Graz) | M | 10.6 | 4 m | no** | yes | HELLP | CS | 31 weeks# |
8 (Salzburg) | M | 5.2 | 5 m | no** | yes | HELPP | CS | 29 weeks# |
Group 3: patients with positive NBS results, asymptomatic: | ||||||||
9 (Vienna) | F | 10.8 | 1 d | Yes | no | normal | vaginal | Term |
10 (Vienna) | F | 9.5 | 6 d | Yes | no | twin pregnancy | CS | 29 weeks# |
11 (Graz) | F | 3.7 | 1 d | yes | no | HELLP | CS | 32 weeks# |
12 (Vienna) | M | 2.8 | 10 d | Yes | no | preeclampsia | CS | 34 weeks |
13 (Vienna) | F | 2.7 | 1 d | Yes | no | path. CTG | CS | 25 weeks# |
14 (Vienna) | M | 0.9 | 2 d | Yes | no | normal | vaginal | 40 weeks |
Summary for the 14 LCHADD patients: | ||||||||
8 M/6 F | median: 7.6 y | median:15 d | NBS + 9/14 | 8/14 | 4/14 HELLP | CS 10/14 | 9/14 preterm 64%; 6/9 IRDS | |
range: 0.9-15.3 | range: 1d-20 m | 64% | 57% | 1/14 preecl. | 71% | |||