Family History, Ages of the Parents, History of Pregnancy, and Delivery (Table 1)
None of the 16 patients with trisomy 13 had chromosomal abnormalities in their family histories. The age of the mothers ranged from 20 to 42 years (average: 32.9 years) including mothers who were over 35-years-old for 7 patients and over 40-years-old for 2 patients. The age of the fathers ranged from 22 to 47 years (average: 33.8 years) including fathers who were over 35-years-old for 7 patients and over 40-years-old for 3 patients. Regarding the history of previous delivery, 5 patients had parous mothers. In terms of gender, there were 10 males and 6 females. A definitive prenatal diagnosis of amniotic fluid test for trisomy 13 was not carried out for any of the 16 patients. However, in 15 patients diagnosed with trisomy 13, some type of abnormality was indicated in the ultrasonography test during the course of pregnancy, such as intrauterine growth retardation in 11 patients and brain malformations in 5 patients. The term of delivery ranged from 33 to 40 gestational weeks (average: 35.9 gestational weeks). Regarding the method of delivery, 9 patients were delivered via a cesarean section and 7 patients were delivered via a spontaneous cephalic delivery. The delivery term for the performance of cesarean section ranged from 33 to 40 gestational weeks (average: 35.8 gestational weeks).
The average of Apgar Score at the time of birth was 4.25 points for 1 min scores and 6.5 points for 5 min scores. The birth weight ranged from 1,582 to 3,378 g, with an average weight of 2,243 g. The breakdown includes 7 patients weighing 1,500 to 2,000 g, 5 patients weighing 2,000 to 2,500 g, 2 patients weighing 2,500 to 3,000 g, and 2 patients weighting at least 3,000 g.
Chromosomal Analysis, External Malformations, and Organ Malformations (Table 2)
The chromosomal karyotypes of all 16 patients were diagnosed using a G-band method. The r karyotypes included full trisomy 13 in 14 patients, mosaic type of trisomy 13 in 1 patient, and Robertsonian type of translocation in 1 patient.
The major external craniofacial malformations included scalp defects in 5 patients for the head and cleft lip and palate in 10 patients for the face; malformation of abdomen included umbilical hernia in 8 patients. Polydactyly was noted in 6 patients for the extremities. Among the major organ malformations, 3 patients had alobar and 1 patient had semi-lobar type of holoprosencephaly. Dandy-Walker malformation was observed 1 patient and olfactory aplasia and fenestration of the septum pellucidum in 1 patient for the brain. As for the heart, some type of congenital cardiac disorder was observed in all patients. The breakdown includes atrial septal defect in 7 patients, ventricular septal defect in 6 patients, patent ductus arteriosus in 7 patients, coarctation of the aorta in 3 patients, endocardial cushion defect in 2 patients, tetralogy of Fallot (TOF) in 3 patients, and double-outlet right ventricle (DORV) in 3 patients. Combined respiratory malformations included congenital hypoplastic lung in 2 cases and congenital tracheal stenosis in 2 cases.
Administration of Oxygen and the Use of Mechanical Ventilation and Surgical Treatment (Table 3)
Signs of acute respiratory failure were observed in 13 patients after birth. To resuscitate, oxygen was administered to all 16 patients. Mechanical ventilators were used for 9 patients to control acute respiratory failure after tracheal intubation. The tracheal intubation was unsuccessful in 1 patient due to severe tracheal stenosis.
The various types of congenital malformations were observed in all 16 patients with trisomy 13; consultations with specialized surgeons were conducted to determine whether surgical treatment would be possible. Due to the difficulty of tube withdrawal after prolonged intubation, tracheotomy was performed for 2 patients. After tracheotomy, respiratory conditions in both patients were stabilized and they were able to survive for long-time period over 7 years. Abdominal operation for umbilical hernia was performed in 1 patient and for inguinal hernia in 1 patient. Plastic operation of the cleft lip and palate was performed in 1 patient in order to improve the cosmetic problem at 210 days of birth before discharge. Cardiac surgery was performed in 2 patients with trisomy 13. Ligation for patent ductus arteriosus and subclavian methods for coarctation of the aorta were carried out for 1 patient but she was died at 592 days of birth because of respiratory failure. Cardiac operation using Blalock–Taussig method was performed for TOF in 1 patient at 330 days of birth and she has survived for more than 3 years and 3 months now.
Outcomes and Main Cause of Death (Table 4)
In-hospital death at NICU occurred in case of 9 patients, whereas 7 patients were discharged with the condition of homecare. Among them, 3 patients were referred by our hospital to another specialized institution close to the patients’ homes for training purpose of homecare nursing at days 349, 251, and 63 after birth. The ages of 4 patients discharged from our hospital to their homes while they were alive were 336, 331, 256, and 204 days after birth. The average of median hospital stay regarding 7 patients who could be discharged including stay in another specialized institute was 256 days after birth. The survival period of the16 patients with trisomy 13 ranged from death at day 1 (within 24 h of birth) to 10 years and 1 month (this patient lives until now).
The breakdown includes death at 1st day of birth, within 24 h, for 1 patient (6.25 %), death within 7 days of birth for 4 patients (25.00 %), and death within 1 month of birth for 7 patients (43.75 %). On the other hand, 9 patients survived for more than 1 month (56.25 %), 6 patients survived for more than 1 year (37.50 %), and 3 patients survived for more than 5 years (18.75 %). Therefore, the survival rates at ages of 1 day, 1 week, 1 month, 6 months, 1 year, 3 years and 5 years were 93.75, 75.00, 56.25, 43.75, 37.50, 31.25, and 18.75 %, respectively. Median survival time for all 16 patients, both males and females, were 733, 887, and 534 days, respectively.
We also reviewed the data in detail to analyze the main cause of death. Some characteristic trend was recognized as follows: death occurred in 4 patients within 1 week of birth due to a major organ anomaly; especially, 3 patients had DORV and in 2 of 3, intubation with ventilation management was performed. On the other hand, 4 of 6 patients from long-survival group (over 365 days, now living) had some kind of surgery that included tracheotomy in 2 patients and cardiac surgery in other 2 patients. Moreover, 5 of 6 patients from long-survival group (over 365 days) had a history of ventilation therapy.
The longest survival time was set at 365 days (Fig. 1) and 1,825 days equal 5 years (Fig. 2) in the Kaplan–Meier survival curves prepared from the mortality data of all 16 patients with trisomy 13. These Kaplan–Meier survival curves showed mainly two groups: one group that survived for about 2 months and the other group survived for over 365 days.