An analysis of cardiac defects and surgical interventions in 84 cases with full trisomy 18

The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The prevalence of trisomy 18 rises with the increasing maternal age. The recurrence risk for a family with a child with full trisomy 18 is about 1%. Currently most cases of trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ). The recognizable syndrome pattern consists of major and minor anomalies, prenatal and postnatal growth deficiency, an increased risk of neonatal and infant mortality, and marked psychomotor and cognitive disability. Typical minor anomalies include characteristic craniofacial features, clenched fist with overriding fingers, small fingernails, underdeveloped thumbs, and short sternum. The presence of major malformations is common, and the most frequent are heart and kidney anomalies. Feeding problems occur consistently and may require enteral nutrition. Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. The major causes of death include central apnea, cardiac failure due to cardiac malformations, respiratory insufficiency due to hypoventilation, aspiration, or upper airway obstruction and, likely, the combination of these and other factors (including decisions regarding aggressive care). Upper airway obstruction is likely more common than previously realized and should be investigated when full care is opted by the family and medical team. The complexity and the severity of the clinical presentation at birth and the high neonatal and infant mortality make the perinatal and neonatal management of babies with trisomy 18 particularly challenging, controversial, and unique among multiple congenital anomaly syndromes. Health supervision should be diligent, especially in the first 12 months of life, and can require multiple pediatric and specialist evaluations.

The natural history of trisomy 18 and trisomy 13 was investigated using data derived from parent questionnaires and medical records from 98 families with an index case of trisomy 18 and 32 families with an index case of trisomy 13. Data are presented on pregnancy, delivery, survival, medical complications, immunizations, growth, cause of death, cytogenetics, and recurrence risk. Half of the trisomy 18 babies were delivered by C-section. Fetal distress was a factor in half, and the only reason in a third of C-section deliveries. One minute Apgar scores were significantly lower in C-section and breech deliveries. There were more small for gestational age babies than in the general population, but most of the low birth weight newborns were small for gestational age, unlike the general population. Survival in this group of children was better than in other studies due to ascertainment bias. There were more girls than boys at all ages for both conditions, and the sex ratio decreased with time. Growth curves for length, weight, head circumference, and weight vs height are provided. Long-term survival did not appear to be due to mosaicism. We found no adverse reactions attributable to immunizations. At age 1 year there was an average of approximately 2 operations per living child. We report the second case of successful major cardiac surgery in a trisomy 18 child. Almost 70% of deaths were attributed to cardiopulmonary arrest. The sibling recurrence risk for trisomy 18 or trisomy 13 was 0.55%.

Trisomy 13 and trisomy 18 are generally considered fatal anomalies, with a majority of infants dying in the first year after birth. The inpatient hospital care that these patients receive has not been adequately described. This study characterized inpatient hospitalizations of children with trisomy 13 and trisomy 18 in the United States, including number and types of procedures performed. Retrospective repeated cross-sectional assessment of hospitalization data from the nationally representative US Kids' Inpatient Database, for the years 1997, 2000, 2003, 2006, and 2009. Included hospitalizations were of patients aged 0 to 20 years with a diagnosis of trisomy 13 or trisomy 18. The number of hospitalizations for each trisomy type ranged from 846 to 907 per year for trisomy 13 (P = .77 for temporal trend) and 1036 to 1616 per year for trisomy 18 (P < .001 for temporal trend). Over one-third (36%) of the hospitalizations were of patients older than 1 year of age. Patients underwent a total of 2765 major therapeutic procedures, including creation of esophageal sphincter (6% of hospitalizations; mean age 23 months), repair of atrial and ventricular septal defects (4%; mean age 9 months), and procedures on tendons (4%; mean age 8 years). Children with trisomy 13 and trisomy 18 receive significant inpatient hospital care. Despite the conventional understanding of these syndromes as lethal, a substantial number of children are living longer than 1 year and undergoing medical and surgical procedures as part of their treatment.