Palliative care for the family carrying a fetus with a life-limiting diagnosis
Female; Humans; Trisomy; Pregnancy; Attitude to Death; Prenatal Diagnosis; Prenatal Care; decision making; Family/psychology; social support; Palliative Care/methods; Chromosomes; Human; Pair 18/genetics; Fetal Diseases/diagnosis
Prenatal diagnosis of a lethal anomaly is a monumental moment in a family's life. It requires extensive team counseling and planning about complex neonatal and obstetric medical management. The construct of palliative care with its focus on emotional, spiritual, social, and symptom support can provide a model for caring for these families.
2007
Munson D; Leuthner SR
Pediatric Clinics Of North America
2007
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1016/j.pcl.2007.06.006" target="_blank" rel="noreferrer">10.1016/j.pcl.2007.06.006</a>
Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988-2004.
Child; Female; Humans; infant; Male; Survival Rate; Pregnancy; Adult; Middle Aged; Prenatal Diagnosis; Survival Analysis; Longitudinal Studies; Time Factors; Hospitals; Birth Weight; Preschool; infant; Newborn; retrospective studies; Abnormalities; Brain Diseases/ultrasonography; Child Health Services/economics/organization & administration/statistics & numerical data; Chromosomes; Congenital/ultrasonography; gestational age; Heart Defects; Human; Karyotyping; Maternal Age; Multiple/genetics/mortality/pathology; Pair 18/genetics; Paternal Age; Taiwan; Trisomy/diagnosis/genetics; Ultrasonography/methods
Trisomy 18 is the second most common autosomal trisomy in newborns. The birth prevalence of this disorder is approximately 1 in 3,000 to 1 in 8,000, and the life span of the majority of patients is less than 1 year. As information regarding outcome in trisomy 18 is rather fragmentary in the literature, this study is aimed at investigating the survival and natural history of trisomy 18. We also evaluated the survival age and management of trisomy 18 in two different periods, before and after the implementation of National Health Insurance (NHI) program. Thirty-nine cases of trisomy 18 were collected in Mackay Memorial Hospital in a 17-year period, from 1988 to 2004. Delivery data, survival age, management before and after the implementation of NHI program, structural defects, image findings and cytogenetic results were analyzed by medical and nurse's records. The diagnosis of trisomy 18 was based on the prenatal amniocentesis or postnatal chromosome analysis. Three patients had trisomy 18 mosaicism. Since cardiovascular and central nervous systems are the most common organ systems involved in this disorder, 31 patients received brain ultrasonography and heart ultrasonography for evaluation of their multiple anomalies after admission. All patients except one died in their first year due to severe malformations of the cardiovascular or central nervous systems. The median survival age was 6 days. We found a longer survival with female patients than with male patients (P < 0.05). Implementation of NHI program in the more recent decade of this study period was associated with longer survival of trisomy 18 (P < 0.05). The three most common structural defects were clenched hands (95%), rocker bottom feet (90%), and low set or malformed ears (90%). Low birth weight was present in 90%. By cardiac ultrasonography, the top four heart defects were ventricular septal defect (94%), patent ductus arteriosus (77%) and atrial septal defect (68%). However, ten cases (32%) had complex congenital heart defects. By brain ultrasonography, the most common brain lesion was cerebellar hypoplasia (32%), followed by brain edema (29%), enlarged cisterna magna (26%) and choroid plexus cysts (19%). Although most patients with trisomy 18 die within the first few weeks after birth, it is important to recognize that a small but notable percentage of these patients will survive the first year. When prenatal or postnatal decisions need to be made, the possibility of long-term survival should be included in any discussion to enable families to make the most appropriate decision.
2006
Lin HY; Lin SP; Chen YJ; Hung HY; Kao HA; Hsu CH; Chen MR; Chang JH; Ho CS; Huang FY; Shyur SD; Lin DS; Lee HC
American Journal Of Medical Genetics.Part A
2006
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1002/ajmg.a.31173" target="_blank" rel="noreferrer">10.1002/ajmg.a.31173</a>
Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment.
Female; Humans; infant; Male; Survival Rate; Pregnancy; Prognosis; Prenatal Diagnosis; Survival Analysis; Longitudinal Studies; Birth Weight; Newborn; cause of death; Chromosomes; gestational age; Human; Pair 18/genetics; Trisomy/diagnosis/genetics; Children W/SNI; Chromosome Disorders/genetics/mortality/therapy; Fetal Diseases/diagnosis/genetics
Management of neonates with trisomy 18 is controversial, supposedly due to the prognosis and the lack of precise clinical information concerning efficacy of treatment. To delineate the natural history of trisomy 18 managed under intensive treatment, we reviewed detailed clinical data of 24 patients with full trisomy 18 admitted to the neonatal intensive care unit of Nagano Children's Hospital, providing intensive treatment to those with trisomy 18, from 1994 to 2003. Cesarean, resuscitation by intubation, and surgical operations were performed on 16 (67%), 15 (63%), and 10 (42%) of the patients, respectively. Mechanical ventilation was required by 21 (88%), and 6 (29%) of them were extubated. Survival rate at age 1 week, 1 month, and 1 year was 88%, 83%, and 25%, respectively. Median survival time was 152.5 days. Respiration was not stabilized in two patients with left diaphragmatic eventration and hypoplasia accompanied by lung hypoplasia, even with maximal ventilation. The common underlying factors associated with death were congenital heart defects and heart failure (96%), followed by pulmonary hypertension (78%). The common final modes of death were sudden cardiac or cardiopulmonary arrest (26%) and possible progressive pulmonary hypertension-related events (26%). These data of improved survival, through neonatal intensive treatment, are helpful for clinicians to offer the best information on treatment options to families of patients with trisomy 18.
2006
Kosho T; Nakamura T; Kawame H; Baba A; Tamura M; Fukushima Y
American Journal Of Medical Genetics.Part A
2006
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1002/ajmg.a.31175" target="_blank" rel="noreferrer">10.1002/ajmg.a.31175</a>
Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers.
Humans; infant; Trisomy; Survival Analysis; Longitudinal Studies; Scotland; Newborn; Chromosomes; Human; Pair 18/genetics; Pair 13/genetics; Registries/statistics & numerical data
2002
Brewer CM; Holloway SH; Stone DH; Carothers AD; FitzPatrick DR
Journal Of Medical Genetics
2002
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1136/jmg.39.9.e54" target="_blank" rel="noreferrer">10.1136/jmg.39.9.e54</a>