| Literature DB >> 22487910 |
Keiko Tsukada1, George Imataka, Hiroshi Suzumura, Osamu Arisaka.
Abstract
Intensive treatment for newborns with trisomy 13 is controversial because of their lethal prognosis. We report the better life prognosis of patients with trisomy 13 who received intensive treatment. At our hospital, we provided an intensive management to such patients including resuscitation and surgical procedures as required. Herein, we present the results of a retrospective study (1989-2010) of 16 trisomy 13 cases who received an intensive treatment. None was diagnosed to have trisomy 13 before birth; 9 were delivered by C-section and oxygen was administered to all patients during postpartum resuscitation. Mechanical ventilation was used in 9 patients after tracheal intubation and tracheotomy was performed in 2 patients when withdrawing of extubation was difficult. Regarding prognosis, 9 patients died, 3 were referred to another hospital, and 4 were discharged from the hospital. Four and 7 patients died within 7 and 30 days after birth, respectively. Nine patients survived for >1 month, 7 for >180 days, and 5 for >3 years. Median survival for 16 patients was 733 days. The patients who received intensive treatments survived longer compared to the previous data. This study provides useful information concerning genetic counseling, especially from an ethical point of view, before providing intensive management to newborns with trisomy 13.Entities:
Mesh:
Year: 2012 PMID: 22487910 PMCID: PMC3372784 DOI: 10.1007/s12013-012-9355-0
Source DB: PubMed Journal: Cell Biochem Biophys ISSN: 1085-9195 Impact factor: 2.194
Fig. 1Kaplan–Meier survival curves. Kaplan–Meier survival curves are shown for patients with trisomy 13 who received treatment at the neonatal intensive care unit (NICU) of Dokkyo Medical University Hospital. The data represent 16 trisomy 13 patients. The vertical and horizontal axes represent % survival and survival time (days), respectively, setting the longest survival time at 365 days
Fig. 2Kaplan–Meier survival curves. Kaplan–Meier survival curves are shown for patients with trisomy 13 who received treatment at the neonatal intensive care unit (NICU) of Dokkyo Medical University Hospital. The data represent 16 trisomy 13 patients. The vertical and horizontal axes represent % survival and survival time (days), respectively, setting the longest survival time at 1,825 days
Compared survival rates of trisomy 13 in our study with previously reported
| Survival time (age) | Denmark [ | England [ | Scotland [ | Atlanta, USA [ | Taiwan [ | Japan (our study) |
|---|---|---|---|---|---|---|
| 1 day | 77 | 69 | 75 | 86 | 89 | 93.75 |
| 7 days | 40 | 38 | 50 | 56 | 61 | 75 |
| 1 month | 23 | 13 | 28 | 30 | 29 | 56.25 |
| 6 months | 10 | 0 | ND | 11 | 7 | 43.75 |
| 1 year | ND | 0 | 3 | 9 | 4 | 37.5 |
| 3 years | ND | 0 | ND | ND | 4 | 31.25 |
| 5 years | ND | 0 | ND | ND | ND | 18.75 |
| Median survival (days) | 2.5 | 4 | 8.5 | 7 | 9 | 733 |
ND no data
Family history, age of parents, pregnancy, and delivery regarding 16 patients with trisomy 13
| Patients | Age of parents (father/mother) | History of previous delivery | Gender | Prenatal ultrasonographic findings | Cesarean section | Apgar score (1 min/5 min) | Gestational age (weeks) | Birth weight (g) |
|---|---|---|---|---|---|---|---|---|
| 1 | 31/29 | – | M | Hydrocephalus IUGR | – | 3/4 | 35 | 1,582 |
| 2 | 32/32 | – | F | Holoprosencephaly umbilical hernia severe IUGR | + | 1/2 | 35 | 1,756 |
| 3 | 32/31 | – | M | IUGR | + | 3/6 | 40 | 2,162 |
| 4 | 35/42 | + | M | Hydronephrosis | + | 1/3 | 33 | 3,378 |
| 5 | 41/40 | + | M | IUGR oligoamnios | + | 2/5 | 37 | 2,254 |
| 6 | 22/20 | – | F | IUGR | – | 6/7 | 37 | 2,237 |
| 7 | 33/33 | – | F | Hydrocephalus oligoamnios | + | 8/9 | 35 | 2,540 |
| 8 | 30/35 | + | M | – | – | 8/9 | 36 | 2,380 |
| 9 | 34/32 | – | F | Holoprosencephaly IUGR | + | 1/3 | 36 | 2,784 |
| 10 | 22/21 | – | M | IUGR | – | 8/8 | 37 | 2,342 |
| 11 | 36/35 | – | F | Hydrocephalus IUGR polydactyly origoamnios | – | 4/9 | 35 | 1,960 |
| 12 | 29/33 | – | M | Severe IUGR | – | 3/7 | 34 | 1,602 |
| 13 | 39/37 | + | M | Origoamnios | ||||
| 14 | 36/36 | – | F | Severe IUGR | – | 8/10 | 37 | 1,746 |
| 15 | 47/34 | + | M | IUGR | – | 4/8 | 39 | 3,366 |
| 16 | 41/37 | – | M | IUGR | + | 3/6 | 35 | 1,950 |
M male, F female, IUGR intrauterine growth retardation
Chromosomal analysis, external malformations, organ malformations with 16 patients of trisomy 13
| Patients | Karyotype | (Major external malformations) | (Organ malformations) | |||||
|---|---|---|---|---|---|---|---|---|
| Head | Face | Abdomen | Extremities others | Brain malformation | Congenital heart disease | Respiratory complications | ||
| 1 | Full trisomy | – | Cleft lip and palate lack of nose | Umbilcal hernia intestinal fistula | Polydactyly | Holoprosencephaly (alober type) | VSD ASD PDA PH | Unseparate superior and inferior with hypoplastic lung |
| 2 | Full trisomy | – | Cleft lip and palate | Umbilcal hernia | – | Holoprosencephaly (alober type) | VSD ASD DORV | Respiratory failure |
| 3 | Full trisomy | Scalp defect hemangioma | Cleft lip and palate | – | Polydactyly cryptorchidism | – | PDA ECD DORV PS | Tracheal stenosis tracheoesophageal fistula respiratory failure |
| 4 | Full trisomy | Scalp defect | – | Prune belly syndrome umbilical hernia | – | – | VSD DORV | Hypoplastic lung tracheal stenosis respiratory failure |
| 5 | Full trisomy | Low set ears | Cleft lip and palate | Umbilical hernia | Finger apposition anomaly | – | ECD PS | Respiratory failure |
| 6 | Robertson type trisomy | – | – | Necrotizing enterocolitis | – | – | VSD CoA | PPHN respiratory failure |
| 7 | Full trisomy | – | Cleft lip and palate | – | – | Holoprosencephaly (alober type) | VSD PDA | Respiratory failure |
| 8 | Full trisomy | Scalp defect low set ears | – | Umbilical hernia | Polydactyly narrow fingernails | – | TOF MAPCA | |
| 9 | Full trisomy | – | Cleft lip and palate lack of nose | – | – | Holoprosencephaly (semi-lober type) | VSD ASD CoA | Respiratory failure |
| 10 | Full trisomy | – | Cleft lip and palate | Inguinal hernia | – | – | TOF | Respiratory failure |
| 11 | Full trisomy | – | Cleft lip and palate | – | Polydactyly | – | PDA CoA | PPHN respiratory failure |
| 12 | Full trisomy | – | – | Umbilical hernia | – | – | ASD PDA | Vocal cord anomaly |
| 13 | Full trisomy | Scalp defect low set ears | Cleft lip and palate | Umbilical hernia | Polydactyly | – | TOF PA | Respiratory failure |
| 14 | Full trisomy | – | Cleft lip and palate | – | – | Dandy–Walker malformation | ASD | Respiratory failure |
| 15 | Mosaic type trisomy | Scalp defect hemangioma | – | Bowel malrotation inguinal hernia | Narrow fingernails micropenis buried penis | Septum pellucidum fenestration olfactory aplasia | ASD PDA | Respiratory failure |
| 16 | Full trisomy | Low set ears | – | Undescended testis | Polydactyly | – | ASD PDA | Respiratory failure |
VSD ventriculoseptal defect, ASD atrial septal defect, PDA patent ductus arteriosus, DORV double-outlet right ventricle, ECD endcardial cusion defect, PS: pulmonary stenosis, CoA coarctation of the aorta, TOF tetralogy of Fallot, PPHN persistent pulmonary hypertension of newborn, MAPCA major aortopulmonary collateral arteries
Administration of oxygen and the use of mechanical ventilation and surgical treatment, others with 16 patients of trisomy 13
| Patients | Resuscitation of oxygen | Mechanical ventilation | Mode of ventilation | Surgical treatment | Others |
|---|---|---|---|---|---|
| 1 | + | – | – | – | – |
| 2 | + | + | IMV | – | Seizures |
| 3 | + | – | – | – | – |
| 4 | + | + | IMV, HFO | Operation for paracentesis of hydronephrosis | – |
| 5 | + | – | – | – | – |
| 6 | + | – | – | – | – |
| 7 | + | – | – | – | – |
| 8 | + | + | IMV | Operation for umbilical hernia | |
| 9 | + | + | IMV | – | Seizures |
| 10 | + | – | – | – | HOT |
| 11 | + | – | – | Plastic operation for cleft lip and palate operation for PDA ligation subcravian method for CoA | – |
| 12 | + | + | IMV | – | Seizures |
| 13 | + | + | IMV | Blalock–Taussig operation for TOF | – |
| 14 | + | + | IMV | – | – |
| 15 | + | + | IMV | Tracheotomy operation for inguinal hernia operation for buried penis | Seizures |
| 16 | + | + | IMV | Tracheotomy | HOT |
IMV intermittent mandatory ventilation, HFO high frequency oscillation, HOT home oxygen therapy, PDA patent ductus arteriosus, CoA coarctation of the aorta, TOF tetralogy of Fallot
Outcomes and life prognosis with 16 patients of trisomy 13
| Patients | Discharge(days) | Transfer another hospital (days) | Home care | Survival time (days) | Main cause of death |
|---|---|---|---|---|---|
| 1 | – | – | – | 12 h | Respiratory failure due to hypoplastic lung |
| 2 | – | – | – | 1 | DORV |
| 3 | – | – | – | 1 | DORV tracheal stenosis |
| 4 | – | – | – | 2 | DORV |
| 5 | – | – | – | 11 | Heart failure |
| 6 | – | – | – | 14 | PPHN respiratory failure |
| 7 | – | – | – | 21 | Heart failure respiratory failure |
| 8 | – | – | – | 39 | Heart failure |
| 9 | – | – | – | 50 | Heart failure respiratory failure |
| 10 | 204 | – | + | 325 | Bacterial infection |
| 11 | 255 | – | + | 592 (live) | – |
| 12 | 63 | 63 | + | 1186 | Respiratory failure |
| 13 | 349 | 349 | + | 1219 (live) | – |
| 14 | 251 | 251 | + | 1842 (live) | – |
| 15 | 336 | – | + | 2,705 | s/o central apnea |
| 16 | 331 | – | + | 3,713 (live) | – |
DORV double-outlet right ventricle, PPHN persistent pulmonary hypertension of newborn, s/o suspect of