TABLE 3.
EpiGenotype/phenotype correlations
| Feature | Totala n (%) or mean (SD) | IC1 GOMb | IC2 LOMc | pUPD11d | p valuee |
|---|---|---|---|---|---|
| Sex, male | 99/228 (43.4%) | 12/32 (37.5%) | 54/118 (45.8%) | 33/78 (42.3%) | .684 |
| Diagnosis source, blood | 192/228 (84.2%) | 25/32 (78.1%) | 116/118 (98.3%) | 51/78 (65.4%) | <.001*** |
| Clinical score | 7.14 (2.53) | 6.09 (2.60) | 7.74 (2.22) | 6.71 (2.71) | .001** |
| Suggestive features | 3.25 (1.65) | 2.78 (1.70) | 3.59 (1.42) | 2.93 (1.84) | .006** |
| Cardinal features | 1.95 (0.82) | 1.66 (0.83) | 2.07 (0.81) | 1.89 (0.81) | .031* |
| Diagnosis indication | <.001*** | ||||
| BWS features | 151/213 (70.9%) | 15/29 (51.7%) | 106/113 (93.8%) | 30/71 (42.3%) | |
| Asymmetry | 21/213 (9.9%) | 4/29 (13.8%) | 3/113 (2.7%) | 14/71 (19.7%) | |
| Hyperinsulinism | 19/213 (8.9%) | 0/29 (0%) | 2/113 (1.8%) | 17/71 (23.9%) | |
| Tumor | 19/213 (8.9%) | 10/29 (34.5%) | 2/113 (1.8%) | 7/71 (9.9%) | |
| Incidental | 3/213 (1.4%) | 0/29 (0%) | 0/113 (0%) | 3/71 (4.2%) | |
| Diagnosis age group | .003** | ||||
| Prenatal (confirmed) | 15/209 (7.2%) | 0/29 (0%) | 14/109 (12.8%) | 1/71 (1.4%) | |
| Neonatal (<30 days) | 108/209 (51.7%) | 12/29 (41.1%) | 60/109 (55.0%) | 36/71 (50.7%) | |
| Postneonatal | 86/209 (41.1%) | 17/29 (58.6%) | 35/109 (32.1%) | 34/71 (47.9%) | |
| Postneonatal age at diagnosis (m) | 16.36 (27.60) | 27.80 (28.92) | 12.78 (24.60) | 14.81 (29.39) | .198 |
| Race/ethnicity group | .125 | ||||
| Caucasian | 149/221 (67.4%) | 22/31 (71.0%) | 80/112 (71.4%) | 47/78 (60.3%) | |
| Mixed | 39/221 (17.6%) | 7/31 (22.6%) | 19/112 (17.0%) | 13/78 (16.7%) | |
| Non-Caucasian | 33/221 (14.9%) | 2/31 (6.5%) | 13/112 (11.6%) | 18/78 (23.1%) | |
| Pregnancy/birth | |||||
| ARTf use | <.001*** | ||||
| Natural | 168/208 (80.8%) | 27/30 (90.9%) | 75/109 (68.8%) | 66/69 (95.7%) | |
| IUIg and/or hormone stim | 2/208 (1.0%) | 2/30 (6.7%) | 0/109 (0%) | 0/69 (0%) | |
| IVFh and/or ICSIi | 38/208 (18.3%) | 1/30 (3.3%) | 34/109 (31.2%) | 3/69 (4.3%) | |
| Multiple gestation | 31/213 (14.6%) | 3/30 (10.0%) | 22/111 (19.8%) | 6/72 (8.3%) | .074 |
| Polyhydramnios | 52/196 (26.5%) | 6/29 (20.7%) | 34/98 (34.7%) | 12/69 (17.4%) | .033* |
| Placentomegaly | 27/194 (13.9%) | 3/29 (10.3%) | 19/97 (19.6%) | 5/68 (7.4%) | .069 |
| Gestational age | 36.01 (3.74) | 35.92 (3.73) | 35.50 (3.76) | 36.81 (3.63) | .079 |
| Premature (<37 weeks) | 88/213 (41.3%) | 12/30 (40.0%) | 55/111 (49.5%) | 21/72 (29.2%) | .023* |
| LGAj | 135/212 (63.7%) | 18/28 (64.3%) | 70/112 (62.5%) | 47/72 (65.3%) | .927 |
| Typical features | |||||
| Macroglossia | 162/226 (71.7%) | 17/32 (53.1%) | 112/118 (94.9%) | 33/76 (43.4%) | <.001*** |
| Tongue reduction | 78/145 (53.8%) | 8/16 (50.0%) | 57/101 (56.4%) | 13/28 (46.4%) | .610 |
| Facial nevus simplex | 103/205 (50.0%) | 6/27 (22.2%) | 77/108 (71.3%) | 20/71 (28.2%) | <.001*** |
| Ear creases/pits | 125/201 (62.2%) | 9/27 (33.3%) | 81/104 (77.9%) | 35/70 (50.0%) | <.001*** |
| Abdominal Wall defect | 149/213 (70.0%) | 17/30 (56.7%) | 92/110 (83.6%) | 40/73 (54.8%) | <.001*** |
| Omphalocele | 52/220 (23.6%) | 0/32 (0%) | 47/115 (40.9%) | 5/73 (6.8%) | <.001*** |
| Umbilical hernia | 73/211 (34.6%) | 8/30 (26.7%) | 40/109 (36.7%) | 25/72 (34.7%) | .593 |
| Diastasis recti | 35/205 (17.1%) | 12/27 (44.4%) | 9/107 (8.4%) | 14/71 (19.7%) | <.001*** |
| Lateralized overgrowth | 158/215 (73.5%) | 23/30 (76.7%) | 64/110 (58.2%) | 71/75 (94.7%) | <.001*** |
| Hypoglycemia | 129/212 (60.8%) | 14/31 (45.2%) | 63/109 (57.8%) | 52/72 (72.2%) | .023* |
| Transient | 81/212 (38.2%) | 11/31 (35.5%) | 49/109 (45.0%) | 21/72 (29.2%) | .096 |
| Hyperinsulinism | 48/218 (22.0%) | 3/32 (9.4%) | 14/112 (12.5%) | 31/74 (41.9%) | <.001*** |
| Pancreatectomy | 22/47 (46.8%) | 0/3 (0%) | 2/14 (14.3%) | 20/30 (66.7%) | .001** |
| Organomegaly | 80/206 (38.8%) | 13/29 (44.8%) | 37/106 (34.9%) | 30/71 (42.3%) | .478 |
| Hepatomegaly | 42/197 (21.3%) | 9/28 (32.1%) | 15/100 (15.0%) | 18/69 (26.1%) | .072 |
| Nephromegaly | 42/198 (21.2%) | 8/28 (28.6%) | 17/100 (17.0%) | 17/70 (24.3%) | .307 |
| Splenomegaly | 29/193 (15.0%) | 5/28 (17.9%) | 12/97 (12.4%) | 12/68 (17.6%) | .584 |
| Tumor | 43/219 (19.6%) | 16/31 (51.6%) | 5/114 (4.4%) | 22/74 (29.7%) | <.001*** |
| Bilateral/multifocal WT/NBk | 14/219 (6.4%) | 10/31 (32.3%) | 1/114 (0.9%) | 3/74 (4.1%) | <.001*** |
| Typical BWSp | 29/220 (13.2%) | 6/31 (19.4%) | 4/115 (3.5%) | 19/74 (25.7%) | <.001*** |
| Other features | |||||
| Cleft palate | 3/202 (1.5%) | 0/28 (0%) | 2/104 (1.9%) | 1/70 (1.4%) | .756 |
| Undescended testes | 29/81 (35.8%) | 3/9 (33.3%) | 24/46 (52.2%) | 2/26 (7.7%) | .001s |
a
Total refers to totals of the three subgroups compared (IC1 GOM, IC2 LOM, pUPD11).
b
IC1 GOM: gain of methylation at H19/IGF2:IG DMR.
c
IC2 LOM: loss of methylation at KCNQ1OT1:TSS DMR.
d
pUPD11: paternal uniparental isodisomy of chromosome 11p15.
e
p values refer to the frequency of each feature between the three subgroups (IC1 GOM, IC2 LOM, pUPD11), so all subgroups are compared at the same time.
f
ART: assisted reproductive technology.
g
IUI: intrauterine insemination.
h
IVF: in vitro fertilization.
i
ICSI: intracytoplasmic sperm injection.
j
LGA: large for gestational age (>2 SDs above the mean).
k
WT/NB: Wilms tumor or nephroblastomatosis.
*
Significant at p < .05;
**
Significant at p < .01;
***
Significant at p < .001.