TABLE 3.
Frequency and distribution of associated birth defects among infants with T21, T18, T13 and triploidy in the Vermont Oxford Network Database born 1994–2009
| Group |
||||
|---|---|---|---|---|
| Category, N (%) | T21‡ N=1681 |
T18‡‡ N=1416 |
T13‡‡‡ N=435 |
Triploidy N=116 |
| Central Nervous System Defects (CNS) | 29 (1.7) | 88 (6.2) | 38 (8.7) | 15 (12.9) |
| Anencephaly | -- | 3 (0.21) | -- | -- |
| Meningomyelocele | 1 (0.06) | 36 (2.5) | 4 (0.92) | 9 (7.8) |
| Hydranencepahly | -- | 2 (0.14) | -- | -- |
| Congenital hydrocephalus | 21 (1.2) | 18 (1.3) | 5 (1.1) | 5 (4.31) |
| Holoprosencephaly | 2 (0.12) | 8 (0.56) | 24 (5.5) | 2 (1.7) |
| Other lethal or life-threatening CNS defects1 | 5 (0.41) | 29 (2.9) | 7 (2.3) | 3 (3.8) |
| Congenital Heart Defects (CHD) | 340 (20.2) | 256 (18.1) | 82 (18.9) | 8 (6.9) |
| Truncus arteriosus | 1 (0.06) | 1 (0.07) | 2 (0.46) | -- |
| Transposition of the great vessels | -- | 8 (0.56) | 2 (0.46) | 1 (0.86) |
| Tetralogy of Fallot | 44 (2.6) | 48 (3.4) | 21 (4.8) | 3 (2.6) |
| Single ventricle | 2 (0.12) | 12 (0.85) | 1 (0.23) | -- |
| Double outlet right ventricle | 10 (0.59) | 68 (4.8) | 15 (3.4) | 1 (0.86) |
| Complete atrioventricular canal | 222 (13.2) | 26 (1.8) | 6 (1.4) | -- |
| Pulmonary atresia | 6 (0.36) | 7 (0.49) | 8 (1.8) | 1 (0.86) |
| Tricuspid atresia | -- | 3 (0.21) | -- | -- |
| Hypoplastic left heart syndrome | 5 (0.30) | 32 (2.3) | 11 (2.5) | -- |
| Interrupted aortic arch | 4 (0.24) | 13 (0.92) | 9 (2.1) | -- |
| Total anomalous pulmonary venous return | 2 (0.12) | 2 (0.14) | 1 (0.23) | 1 (0.86) |
| Other lethal or life-threatening CHD1 | 71 (5.8)* | 77 (7.8)* | 12 (3.9) | 2 (2.6) |
| Gastrointestinal (GI) Defects | 191 (11.4) | 277 (19.6) | 89 (20.5) | 14 (12.1) |
| Cleft palate | 9 (0.54) | 40 (2.8) | 61 (14.0) | 11 (9.5) |
| Tracheoesophageal fistula | 13 (0.77) | 130 (9.2) | 8 (1.8) | -- |
| Esophageal atresia | 13 (0.77) | 98 (6.9) | 3 (0.69) | -- |
| Duodenal atresia | 131 (7.8) | 3 (0.21) | 1 (0.23) | 1 (0.86) |
| Ileal atresia | 2 (0.12) | 1 (0.07) | -- | -- |
| Atresia of large bowel or rectum | 1 (0.06) | -- | -- | -- |
| Imperforate anus | 10 (0.59) | 18 (1.3) | 6 (1.4) | -- |
| Omphalocele | 4 (0.24) | 68 (4.8) | 19 (4.4) | 2 (1.7) |
| Gastroschisis | 1 (0.06) | 6 (0.42) | 2 (0.46) | -- |
| Other lethal or life-threatening GI defects1 | 25 (2.0) | 8 (0.81) | 2 (0.65) | -- |
| Genitourinary (GU) Defects | 22 (1.3) | 20 (1.4) | 10 (2.3) | 2 (1.7) |
| Bilateral renal agenesis | 1 (0.06) | 2 (0.14) | 1 (0.23) | -- |
| Bilateral polycystic, multicystic, or dysplastic kidneys | 2 (0.12) | 7 (0.49) | 4 (0.92) | 1 (0.86) |
| Obstructive uropathy with congenital hydronephrosis | 14 (0.83) | 6 (0.42) | 2 (0.46) | 1 (0.86) |
| Exstrophy of the bladder | -- | -- | 1 (0.23) | -- |
| Other lethal or life-threatening GU defects1 | 5 (0.41) | 5 (0.51) | 2 (0.65) | -- |
| Other Coded Categories of Birth Defects | 51 (3.0) | 76 (5.4) | 17 (3.9) | 2 (1.7) |
| Skeletal dysplasia | 3 (0.18) | 12 (0.85) | 4 (0.92) | 1 (0.86) |
| Congenital diaphragmatic hernia | 1 (0.06) | 49 (3.5) | 8 (1.8) | -- |
| Hydrops fetalis2 | 35 (2.1) | 4 (0.28) | 3 (0.69) | -- |
| Oligohydramnios sequence3 | 10 (0.59) | 10 (0.71) | 2 (0.46) | 1 (0.86) |
| Inborn error of metabolism | 4 (0.24) | -- | -- | -- |
| Myotonic dystrophy4 | -- | 1 (0.07) | -- | -- |
| Tracheal agenesis or atresia5 | -- | 2 (0.67) | -- | -- |
| Hemoglobin Barts | 1 (0.25) | -- | -- | -- |
| Pulmonary Birth Defects | 1 (0.25) | 2 (0.67) | 1 (1.1) | -- |
| Congenital cystic adenomatoid malformation of the lung5 | -- | 1 (0.34) | -- | -- |
| Other lethal or life-threatening pulmonary malformation5 | 1 (0.25) | 1 (0.34) | 1 (1.1) | -- |
| Other Lethal or Life-Threatening Birth Defects | 42 (2.5) | 44 (3.1) | 11 (2.5) | 11 (9.5) |
Numbers and frequencies shown in bolded font represent the number of infants with a certain malformation. Subsequent numbers represent the number of defects. An infant can be included more than once in the same organ system. Example an infant with a duodenal atresia and other GI defect is included in both categories.
Variable added in 2002; to be considered as lethal or life threatening, a birth defect must either: 1) be the primary cause of death or 2) be treated prior to discharge with specific surgical or medical therapy to correct a major anatomic defect or a life threatening physiologic dysfunction.
Hydrops fetalis with anasarca and one or more of the following: ascites, pleural effusion, pericardial effusion.
Oligohydramnios sequence including all 3 of the following: 1) Oligohydramnios documented by antenatal ultrasound 5 or more days prior to delivery, 2) evidence of fetal constraint on postnatal physical exam and 3) postnatal respiratory failure requiring endotracheal intubation and assisted ventilation.
Requiring endotracheal intubation and assisted ventilation.
Variable added in 2008.
583 (34.7%) infants with T21 had one or more additional structural malformations: 469 (27.9%), 94 (5.6%), 13 (0.77%) and 7 (0.42%) infants had 1, 2, 3, and 4 additional malformations respectively. Among infants with additional structural malformations, CHD and GI defects occurred together in 47 (8.1%) infants, 9 (1.5%) infants had heart and CNS defects.
574 (40.5%) infants with T18 had one or more additional structural malformations: 336 (23.7%), 165 (11.7%), 50 (3.5%) and 23 (1.6%) infants had 1, 2, 3, and 4 additional malformations respectively. Among infants with additional structural malformations, CHD and GI defects occurred together in 74 (12.9%) infants, 24 (4.2%) infants had CHD and CNS defects and 25 infants (4.4%) had GI and CNS defects.
168 (38.6%) infants had one or more additional structural malformations: 99 (22.8%), 47 (10.8%), 12 (2.8%) and 10 (2.3%) infants had 1, 2, 3, and 4 additional malformations respectively. Among infants with additional structural malformations, CHD and GI defects occurred together in 32 (19.0%) infants, 16 (9.5%) infants had heart and CNS defects and 18 infants (10.7%) had GI and CNS defects.
The majority of CHDs in this group are attributed to ventricular septal defect (VSD) with or without atrial septal defect (ASD).