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. Author manuscript; available in PMC: 2014 Jun 1.
Published in final edited form as: Hum Mutat. 2013 Apr 12;34(6):801–811. doi: 10.1002/humu.22313

Table 2.

Clinical information of the reported cases

patient # Gender Ethnicity Birth weight (kg) Mother’s age, pregnancy Gestation (weeks) Apgar 1 & 5 min Delivery Life span (days) Diagnosis Medications ECMO Associated anomalies
1 M Caucasian 2.06 28y, G2P2 37 & 3/7 8, 9 Vaginal 29 Autopsy Sildenafil No Incomplete rotation of bowel, high arched palate, hypocalvaria, incomplete lung lobation, incomplete rotation of bowel
2 F Hispanic 2.8 26y, G3P2 39 & 5/7 8, 9 Vaginal 18 Autopsy Nitric Oxide, Milrinone, Dopamine, Fentanyl Yes Malrotation of intestine, imperforate anus, butterfly vertebra
3 M Caucasian 3.3 22y, G4P2 36 9, 9 Vaginal 35 Autopsy N/A Yes Aortic coarctation, Meckel’s diverticulum
4 F Hispanic 3.6 28y, G3P2Ab1 39 9, 9 Elective c-section 16 Autopsy N/A Yes Bilateral incomplete lobation of lungs, lymphangiectasis, limited autopsy
5 M Caucasian 3.0 38 & 2/7 9, 9 Elective c-section 5 Autopsy Nitric oxide, Milrinone,, Sildenafil, Epinephrine, Dobutamine, Neuromuscular blockers Yes Abnormal lung lobation, malrotation of the intestine, duodenal atresia
6 F Caucasian 3.2 28y, G2P1 39 8, 9 Vaginal 28 Biopsy Nitric oxide, Milrinone, Epoprostenol Yes No autopsy
7 M Hispanic 2.7 25y, G1P0→1 36 & 4/7 8, 9 Vaginal 10 Biopsy Nitric oxide, Dopamine, Milrinone, Sildenafil, Epinephrine, hydrocortisone Yes None identified
8 F Caucasian 3.3 28y, G3P2 39 6, 9 Vaginal 120 Autopsy Sildenafil No Bilobed right lung
9 F Caucasian 4.02 38y, G2P1 38 8, 9 C-section for polyhydramnios 10 Autopsy Nitric oxide, morphine, dopamine Yes None identified
10 F African American 3.1 25y, G2P2 40 & 4/7 8, 9 Vaginal 14 Autopsy Nitric oxide, epinephrine, dopamine, epoprostenol, Sildenafil Yes None identified, Limited autopsy
11 F Caucasian 3.7naline 38y, G2P1→2 40 8, 9 Vaginal 95 Nitric Oxide, Sildenafil, Epoprostenol, Milrinone, Hydrocortisone, Morphine, Yes Atrial septal defect
12 F Caucasian 4.1 N/A, G1P1 42 N/A Vaginal 111 Biopsy Nitric Oxide, Sildenafil Yes N/A
13 F Caucasian 3.2 39y, G1P1 39 10, 10 Vaginal 42 Biopsy Sildenafil, Epoprostenol, Milrinone, Dopamine, Epinephnire, Norepinephrine Yes No lung lobation
14 M Caucasian 3.3 26y, G1p1 41 & 2/7 9, 10 Vaginal 15 Autopsy Nitric oxide, epoprostenol, surfactant and catecholeamines No None identified
15 M Caucasian 3.0 36y, G2P1 39 8, 9 C-section (h/o prior c-section) 7 Biopsy Nitric oxide, Milrinone, dopamine, epoprostenol No Malrotation of the intestine, atrial septal defect, thickened distended bladder with muscular hypertrophy
16 M Caucasian 2.1 31y, G3P2 32 4, 8 Vaginal 0.75 Autopsy Dopamine, epinephrine, fentanyl No Hyaline membrane disease, patent ductus arteriosus, multiple intestinal atresias, imperforate anus, undescended testis, Hirschprung disease
17 F Caucasian 1.4 30y, G1P1 33 & 3/7 10, 10 Vaginal 7 Autopsy Epoprostenol No Duodenal atresia, polysplenia, annular pancreas and left hydronephrosis
18 M Caucasian 2.8 42y, G3P3 38 9, 10 Vaginal 19 Biopsy Nitric Oxide, Milrinone, Dopamine, Ambrisentan Yes Hydronephrosis, partial stenosis at transition to colon transversum
20 M Caucasian 26y, G1P0→1 40 8, 8 Vaginal 51 Autopsy Nitric oxide, dopamine, epinephrine, Fentanyl, Yes Malrotation of the intestine, hydronephrosis, bilateral hydroureter, enlarged and thick bladder
22 M Asian 3.3 39y, G2P0→1 38 & 2/7 8, 9 C-section 16 Clinical characteristic and genetic mutation Nitric Oxide, epinephrine, dopamine, Fentanyl, Milrinone, Sildenafil Yes N/A
23 F Caucasian 2.8 15y, G1P1 36 5, 9 Vaginal 15 Autopsy Nitric Oxide, dobutamine, norepinephrine, sildenafil, epoprostenol No Duodenal stenosis, annular pancreas, malrotation of large intestine
24 F Caucasian 2.9 24y, G1P0 39 & 4/7 4, 7 Vaginal 11 Biopsy Dobutamine, Dopamine, Epinephrine, Milrinone Yes Meckel’s divurticulum, moderate acute cortical involution of thymus
25 F Caucasian 2.7 33y, G4P3→4 37 & 5/7 7, 9 Vaginal 19 Autopsy Nitric oxide, Noradrenalin, Milrinone, Dobutamine Yes Intestinal malrotation
26 M Caucasian 3.5 38, G4P1 39 9, 9 Vaginal 21 Biopsy Nitric oxide No Megaduodenum, pyloric stenosis, annular pancreas
27 F Caucasian 2.7 34y, G1P1 37 & 2/7 8, 8 Vaginal 16 Biopsy Nitric oxide, Sildenafil, Bosentan Yes None identified
28 M Caucasian 2.6 34y, G5P1 39 9, 9 C-section 19 Autopsy Nitric oxide, Milrinone, Sildenafil, Noeepinephrine No Duodenal atresia
29 F Caucasian 2.4 20y, G1P1 34 &5/7 8, 9 Vaginal 12 Biopsy Nitric oxide, dopamine, dobutamine, hydrocortisone Yes Suspected jejuna atresia, no autopsy
30 F Caucasian 2.9 34y, G1P0→1 39 &6/7 7, 9 Vaginal 15 Autopsy Dopamine, dobutamine, hydrocortisone Yes Thickening of the pylorus
31 M Asian 3.5 24, G1P1 38 N/A Vaginal N/A Biopsy Nitric oxide, furosemide, nifedipine No Posterior urethral valves
32 F African American 1.7 37, G5P3→4 34 8, 9 Vaginal N/A Biopsy Nitric oxide, sildenafil, milrinone No Atrial septal defects
33 F Caucasian 3.2 37, G2P2 37 7, 9 C-section 24 Biopsy Nitric oxide No Butterfly vertebra T5
34.1 M Caucasian 0.5 29 Terminated at 23 4/7 N/A Vaginal N/A Autopsy N/A No Duedenal atresia, malrotation of the large intestine, anal atresia, gallbladder agenesis
34.2 M Caucasian 2.6 30 39 3/7 N/A Vaginal 17 Autopsy Nitric oxide, sildenafil, bosentan, dobutamine, adrenaline, noradrenaline Yes None detected
35 F Caucasian 2.8 30y, G3 P1 38 & 5/7 3, 9 Elective C-section 50 Clinical characteristic and genetic mutation Dobutamine, Milrinone, Bosentan, Sildenafil No Atrial septal defect, polyhydramnios
36 M Asian/Caucasian 3.0 31y, G3P3 37 & 5/7 7, 8 C-section (breech presentation) 2 Autopsy Dobutamine, dopamine, adrenaline, noeepinephrine No Atrial septal defect, polyhydramnios
37.1 F Caucasian 3.4 25y, G2P1 39 9, 9 Vaginal 17 Autopsy Nitric oxide, dopamine, dobutamine, tolazolin No N/A
37.2 M Caucasian N/A 25y Terminated at 21 weeks N/A Vaginal N/A Autopsy N/A No Uretral stenosis, hydronephrosis,
37.3 M Caucasian 3.2 27y, G4P2 37 & 1/7 9, 10 Vaginal 0.166 Autopsy Surfactants & Catecholamines No Pulmonary hypoplasia, hydrothorax, polyhydramnios
37.4 F Caucasian 3.2 31y, G5P3 39 9, 9 Vaginal 1 Autopsy Nitric oxide, Catecholamines No Isolated arhinencephaly
37.5 M Caucasian N/A 36y Terminated at 22 weeks N/A Vaginal N/A Autopsy N/A No Obstructive uropathy

N/A Not available. Clinical information of cases 19 and 21 are not available. The clinical information of cases 38 – 41 have been presented in Stankiewicz et al 2009.