ARTICLE Supplemental Information SUPPLEMENTAL TABLE 6 Mosaic and Partial Trisomies Thirty-eight VLBW infants were identified with T13, of whom 2 had mosaic T13. T18 was reported for 128 infants, of whom 2 had mosaic T18 and 1 had partial T18. The infants with mosaic or partial trisomy are described here. None of the 5 infants survived to discharge. Infant with mosaic T13 and tetralogy of Fallot The diagnosis was suspected postnatally on day 4 of life and confirmed on day 8 of life. Full intensive care was provided in the delivery room with the plan to withdraw or withhold any or all intensive care in the hospital. The infant died on day 12 of life. Infant with mosaic T13 and an atrial septal defect, single umbilical artery, and bilateral mild hydronephrosis After amniocentesis at 22 wk GA confirmed the diagnosis of T13, the mother underwent an elective termination at 23 wk GA. Infant with mosaic T18 and coarctation of the aorta The diagnosis was confirmed by prenatal genetic testing. The plan was to provide full intensive care both in the delivery room and subsequently. The infant died on day 2 of life. Infant with mosaic T18 and congenital diaphragmatic hernia The diagnosis was suspected after birth and confirmed by genetic testing on day 6. Full intensive care was provided in the delivery room with the plan to withdraw or withhold any or all intensive care in the hospital. The infant died on day 3 of life. Infant with partial T18 and congenital diaphragmatic hernia The diagnosis was suspected and confirmed postnatally on day 1 of life. Full intensive care was provided in the delivery room with the plan to withdraw or withhold any or all intensive care in the hospital. A central line was placed. The infant died on day 3 of life. PEDIATRICS Volume 133, Number 2, February 2014 SI1
SUPPLEMENTAL TABLE 7 Characteristics of VLBW Infants With T13 or T18 Compared for Infants With Full Karyotype Versus Unknown Karyotype in the NRN Born 1994 2009 Characteristic, n (%) or Mean (SD) Karyotype P b Full Unknown a Infants with T13 n 5 12 n 5 24 BW (g), Mean (SD) 1135 (283) 1090 (267).64 401 1000 4 (33) 10 (42).72 1001 1500 8 (67) 14 (58) GA (wk), mean (SD) 31 (3.3) 30 (2.8).48,25 1 (8) 1 (4).86 25 28 2 (17) 6 (25) 291 9 (75) 17 (71) Male gender 7 (58) 10 (42).48 Apgar at 1 min #3 7 (64) 10 (43).46 Apgar at 5 min #3 5 (45) 9 (39).99 Congenital heart defect 5 (42) 8 (33).72 Survived to discharge 0 (0) 4 (17).28 Infants with T18 n 5 58 n 5 67 BW (g), mean (SD) 1106 (307) 1096 (279).86 401 1000 20 (34) 23 (34).99 1001 1500 38 (66) 44 (66) GA (wk), mean (SD) 32 (4.0) 32 (3.7).91,25 2 (3) 2 (3).68 25 28 11 (19) 11 (16) 291 45 (78) 54 (81) Male gender 22 (38) 25 (38).99 Apgar at 1 min #3 40 (69) 43 (64).70 Apgar at 5 min #3 19 (33) 25 (37).71 Congenital heart defect 44 (76) 34 (51).005 Survived to discharge 7 (12) 4 (6).34 Among infants with T13, Apgar scores were missing for 2 infants (1 in each group). Among infants with T18, infant gender was missing for 1 infant with unknown karyotype. a The initial NRN questionnaire asked about the presence of T13 or T18 diagnosis. We obtained more details about whether the trisomy was full or mosaic from additional review of the records. Resource limitations and previously participating hospitals that are no longer part of the NRN precluded us from reviewing all the medical records. b P value by t test (means for BW and GA), Fisher s exact test, or Mantel-Haenszel x 2 test (categorical GA). SI2 BOGHOSSIAN et al
ARTICLE SUPPLEMENTAL TABLE 8 Risk of T13 or T18 Among VLBW Infants in the NRN born 1994 2009 Characteristic a Total N Infants With T13 Infants With T18 n (%) Adjusted RR (95% CI) b n (%) Adjusted RR (95% CI) b Maternal age, y 401 1693 2 (0.12) 1.81 (0.40 8.13) 28 (1.65) 11.30 (6.73 18.98) 35 39 6327 10 (0.16) 2.39 (1.06 5.38) 25 (0.40) 2.80 (1.63 4.79) 30 34 10 873 3 (0.03) 0.43 (0.13 1.47) 23 (0.21) 1.45 (0.83 2.51) 25 29 12 275 6 (0.05) 0.73 (0.28 1.90) 19 (0.15) 1.11 (0.62 1.97),25 21 063 15 (0.07) 1.0 30 (0.14) 1.0 Maternal race Black 20 921 13 (0.06) 0.65 (0.31 1.37) 27 (0.13) 0.52 (0.32 0.85) Other 2205 1 (0.05) 0.14 (0.01 1.29) 9 (0.41) 1.61 (0.75 3.49) White 28 657 21 (0.07) 1.0 86 (0.30) 1.0 Maternal Hispanic ethnicity Yes 8456 5 (0.06) 0.67 (0.25 1.80) 40 (0.47) 1.87 (1.24 2.83) No 42 041 28 (0.07) 1.0 80 (0.19) 1.0 Multiple birth Yes 13 002 1 (0.01) 0.08 (0.01 0.58) 15 (0.12) 0.34 (0.19 0.60) No 39 258 35 (0.09) 1.0 110 (0.28) 1.0 Infant gender Male 26 600 17 (0.06) 0.85 (0.44 1.65) 47 (0.18) 0.60 (0.41 0.85) Female 25 658 19 (0.07) 1.0 77 (0.30) 1.0 a Information was missing for maternal age: 31 infants; race: 479; ethnicity: 1765; multiple birth: 2; infant gender: 4. b RRs and CIs from a modified Poisson regression model fit to each binary trisomy outcome with maternal age, maternal race, maternal ethnicity, multiple birth, and infant gender included as independent variables. Study center was not included due to sample size limitations. PEDIATRICS Volume 133, Number 2, February 2014 SI3
SUPPLEMENTAL TABLE 9 Birth Defects Reported for Infants With T13 in the NRN Born 1994 2009 Category n % Congenital heart defects Atrial septal defect 3 Complex cardiac anomaly 1 Hypoplastic left heart syndrome and interrupted aortic arch 1 Mesocardia 1 Single ventricle 1 Tetralogy of Fallot 3 Tetralogy of Fallot with double outlet right ventricle 1 VSD 1 VSD and atrial septal defect 1 Total 13 36.1 GI defects Congenital diaphragmatic hernia 1 Imperforate anus 1 Left flank omentum 1 Malrotation 1 Omphalocele 2 Right upper quadrant cystic mass 1 Tracheoesophageal fistula 1 Total 8 22.2 Genitourinary defects Bilateral polycystic, multicystic, or dysplastic kidneys 3 Bilateral renal agenesis 2 Total 5 13.9 Central nervous system defects Holoprosencephaly 7 Total 7 19.4 Other birth defects Cleft palate 4 Cleft palate and single nostril 1 Cleft palate and skeletal dysplasia 1 Total 6 16.7 Any birth defect 24 66.7 Total infants with T13 36 SI4 BOGHOSSIAN et al
ARTICLE SUPPLEMENTAL TABLE 10 Birth Defects Reported for Infants With T18 in the NRN Born 1994 2009 Category n % Congenital heart defects ASD 1 Bicuspid aortic valve 3 Coarctation of aorta and endocardial cushion defect 1 Coarctation of aorta and VSD 5 Coarctation of aorta, VSD, and ASD 1 Coarctation of aorta, VSD, and bicuspid aortic valve 1 CAC 1 CAC, coarctation of aorta, and VSD 1 CAC, coarctation of aorta, and ASD 1 CAC and dextrocardia 1 CAC and interrupted aortic arch 1 CAC, VSD, and ASD 1 CAC, VSD, ASD, and interrupted aortic arch 1 Complex cardiac anomaly and VSD 1 Double outlet right ventricle 5 Double outlet right ventricle, single ventricle 1 Double outlet right ventricle, VSD 2 Hypoplastic left heart syndrome 3 Hypoplastic left heart syndrome and double outlet right ventricle 2 Hypoplastic left heart syndrome, double outlet right ventricle, and VSD 1 Hypoplastic right heart 1 Interrupted aortic arch 1 Interrupted aortic arch and VSD 1 Other congenital heart defect 1 Partial anomalous pulmonary venous return, VSD, and ASD 1 Tetralogy of Fallot 4 Tetralogy of Fallot and pulmonary atresia 1 Transposition of the great vessels, double outlet right ventricle 1 VSD 20 VSD and dysplastic atrioventricular valve 1 VSD and bicuspid aortic valve 4 VSD and mitral atresia 1 VSD and ASD 4 VSD, ASD, and abnormal mitral, aortic, and pulmonic valves 1 VSD, ASD, and aortic stenosis 1 VSD and dysplastic aortic and pulmonic valves 1 Total 78 62.4 GI defects Congenital diaphragmatic hernia 5 Esophageal atresia 2 Esophageal atresia and diaphragmatic eventration 1 Esophageal atresia and tracheoesophageal fistula 8 Esophageal atresia, tracheoesophageal fistula, and colonic atresia 1 Imperforate anus 1 Omphalocele 7 Proximal esophageal atresia 1 Tracheoesophageal fistula 6 Tracheoesophageal fistula and imperforate anus 1 Tracheoesophageal fistula and omphalocele 1 Total 34 27.2 Genitourinary defects Bilateral polycystic, multicystic, or dysplastic kidneys 2 Horseshoe kidney 1 Missing left kidney 1 Other genitourinary defect 1 Rectovaginal fistula 1 Total 6 4.8 Central nervous system defects Absent cerebellar vermis 1 Agenesis of corpus callosum 2 PEDIATRICS Volume 133, Number 2, February 2014 SI5
SUPPLEMENTAL TABLE 10 Continued Category n % Atrophic cerebellum 1 Cerebellar heterotopia 1 Cerebellar hypoplasia 1 Cerebellar and brainstem hypoplasia and choroid plexus cyst 1 Cerebellar and corpus callosum hypoplasia 2 Congenital hydrocephalus 2 Dandy-Walker syndrome 1 Enlarged cisterna magna 1 Meningomyelocele 3 Meningomyelocele and congenital hydrocephalus 1 Meningomyelocele, congenital hydrocephalus, dysgenetic corpus callosum 1 Meningomyelocele and microcephaly 1 Microcephaly 1 Neuroglial heterotopia 1 Partial agenesis of corpus callosum 2 Retrocerebellar cyst 1 Total 24 19.2 Other birth defects Adrenal hypoplasia 1 Cleft palate 4 Cleft palate, skeletal dysplasia 1 Dextroscoliosis 1 Micrognathia 3 Micrognathia and hypoplastic radius and ulna 1 Micrognathia and macrosomia 1 Multiple upper limb defects 1 Skeletal dysplasia 3 Total 16 12.8 Any birth defect 93 74.4 Total infants with T18 125 ASD, atrial septal defect; CAC, complete atrioventricular canal; VSD, ventricular septal defect. SI6 BOGHOSSIAN et al