Table 2.
Descriptive statistics of maternal and neonatal outcome variables in Prader- Willi syndrome.
|
Maternal and Neonatal Outcomes |
Study Statistics | Population Statistics |
|---|---|---|
|
| ||
| Maternal age | 16–47 years, mean 31.4 years | 26.4 years14 |
|
| ||
| Maternal body mass index (BMI) (mean ± SD) | 26.5 ± 6 | 25.6% have BMI 25–29.915 |
|
| ||
| Assessment of fetal movements (N=328) | Decreased - 256 (78%) | NA |
| Normal - 67 (20%) | ||
| Increased - 5 (2%) | ||
|
| ||
| Mode of delivery (N=348) | Cesarean section - 190 (54.6%) | 32%14 |
| Vaginal - 158/348 (45.4%) | ||
|
| ||
| Polyhydramnios | 62 (18%) | 1–3%16,17 |
|
| ||
| Oligohydramnios | 18 (5%) | 11%18 |
|
| ||
| Gestational diabetes | 14 (4%) | 9%19 |
|
| ||
| High blood pressure | 20 (6%) | 9%20 |
|
| ||
| Pre-eclampsia | 5 (1%) | 3.4%21 |
|
| ||
| Premature rupture of membranes | 30 (8%) | Term-8%, Preterm-3%22 |
|
| ||
| Prader-Willi syndrome genetic subtypes (N=355), (M=Males, F=Females) | Deletion 15q11-q13 - 217 (61%) (M/F 98/119, 45.1%/ 54.8%) | Deletion 15q11-q13 −70% |
| Maternal disomy 15– 25% | ||
| Maternal uniparental disomy 15–127(36%) (M/F 52/75, 40.9%/59%) | Imprinting defect - 2–5% | |
| Imprinting defect 11 (3%) (M/F 8/3; 72.7%/ 27.2%) | ||
|
| ||
| Gestational age in weeks (N=343) | ||
| Preterm (<37 weeks) | 90 (26%) | 9.6%14 |
| Term (37–41.6 weeks) | 227 (66%) | 83.4%14 |
| Post-term (>42 weeks) | 26 (8%) | 0.4%14 |
|
| ||
| Birth weight (N=322) (mean, range) | 2713 g (703 – 5000 g) | |
| Normal birth weight (>2500 g) | 212 (66%) | 90.6%14 |
| Low birth weight (<2500 g) | 110 (34%) | 8.1%14 |
| Very low birth weight (<1500 g). | 16 (5%) | 1.4%14 |
|
| ||
| Birth length (mean ± SD) | 48.8 ± 5.8 cm for boys | 45.9–54.8 cm for boys23 |
| 48.4 ± 3.9 cm for girls | 45.9–54 cm for girls23 | |
|
| ||
| Birth head circumference (mean ± SD) | 34.5 ± 3.4 cm for boys/33.8 ± 3.2 cm for girls | 32.1–38.6 cm for boys23 |
| 32.3–37.8 cm for girls23 | ||
|
| ||
| Apgar score at 1 minute (mean) | 6.5 ± 2.27 | Low Apgar score in 1 % |
| Low Apgar score <7 | 17.7% | |
|
| ||
| Apgar score at 5 minutes (mean) | 8.0 ± 1.7 | Low Apgar score in 1.4%24 |
| Low Apgar score <7 | 5.6% | |
|
| ||
| Failure to thrive (N=343) | 263 (77%) | 5–10%25 |
|
| ||
| Breastfeeding (N=343) Yes With difficulty/without difficulty | 76 (22%) (96%, 4%) | 83%26 |
|
| ||
| Feeding difficulty (N=344), (Severe, Moderate, Mild) | 340 (99%) (68%, 26%, 5%) | NA |
|
| ||
| Use of feeding tube (N=339) | Yes - 254 (75%) No - 85 (25%) | NA |
|
| ||
| Feeding tube type (N=236) | ||
| Gavage (NG/OG) | 177 (75%) | NA |
| Gastrostomy tube | 59 (25%) | |
|
| ||
| Weak cry | 328/344 (95%) | NA |
|
| ||
| Hypotonia (N=340) | 339 (99.7%) | NA |