Aviva L. Katz

Ethical and policy issues in genetic testing and screening of children

The genetic testing and genetic screening of children are commonplace. Decisions about whether to offer genetic testing and screening should be driven by the best interest of the child. The growing literature on the psychosocial and clinical effects of such testing and screening can help inform best practices. This policy statement represents recommendations developed collaboratively by the American Academy of Pediatrics and the American College of Medical Genetics and Genomics with respect to many of the scenarios in which genetic testing and screening can occur.

Informed Consent in Decision-Making in Pediatric Practice.

Informed consent should be seen as an essential part of health care practice; parental permission and childhood assent is an active process that engages patients, both adults and children, in their health care. Pediatric practice is unique in that developmental maturation allows, over time, for increasing inclusion of the child’s and adolescent’s opinion in medical decision-making in clinical practice and research. This technical report, which accompanies the policy statement “Informed Consent in Decision-Making in Pediatric Practice” was written to provide a broader background on the nature of informed consent, surrogate decision-making in pediatric practice, information on child and adolescent decision-making, and special issues in adolescent informed consent, assent, and refusal. It is anticipated that this information will help provide support for the recommendations included in the policy statement.

Cardiac malposition, redistribution of fetal cardiac output, and left heart hypoplasia reduce survival in neonates with congenital diaphragmatic hernia requiring extracorporeal membrane oxygenation☆☆☆★

OBJECTIVE To evaluate cardiac position, left ventricular (LV) mass, and distribution of fetal cardiac output in infants with congenital diaphragmatic hernia (CDH) who required extracorporeal membrane oxygenation (ECMO), and in control subjects. STUDY DESIGN Echocardiograms were performed on 23 neonates with CDH shortly after birth, and repeated within 5 days of repair on ECMO in 21 infants,aand on 12 infants receiving ECMO for other diagnoses, and on 10 healthy, term neonates. Cardiac angle between the midline saggital plane and the interventriculak septum was measured, and deviation from normal (45 degrees) was determined. The ratio of cross-sectional areas (proportional to flows) across the pulmonary (PV) and aortic (AV) valves was determined (PV2/AV2) in 19 infants with CDH and in the healthy control subjects. RESULTS Thirteen (57%) infants with CDH survived and 10 (43%) died, with no difference in cardiac deviation before surgical repair (35 +/- 13 degrees vs Cardiac deviation persisted after repair in nonsurvivors (27 +/- 14 degrees vs 800.01 and LV mass was significantly less (1.68 +/- 0.39 vs 3.05 +/- 1.20 gm/kg, p00.0005). Neonates requiring ECMO for other diagnoses and well term babies did not have cardiac angle deviations; both these groups had a greater LV mass than did the infants with CDH. The PV2/AV2 flow ratios were higher in infants with CDH (median, 1.73; range, 1.25 to 16.50) compared with those of the healthy infants (0.96, 0.79 to 1.69, p < 0.0002). CONCLUSIONS Cardiac malposition persisted despite CDH repair in nonsurvivors with low LV mass, and fetal cardiac output was redistributed away from the left ventricle. Lung hypoplasia with reduced pulmonary flow returning to the left atrium and altered left atrial hemodynamics may result in LV hypoplasia

Clinical report - Maternal-fetal intervention and fetal care centers

The past 2 decades have yielded profound advances in the fields of prenatal diagnosis and fetal intervention. Although fetal interventions are driven by a beneficence-based motivation to improve fetal and neonatal outcomes, advancement in fetal therapies raises ethical issues surrounding maternal autonomy and decision-making, concepts of innovation versus research, and organizational aspects within institutions in the development of fetal care centers. To safeguard the interests of both the pregnant woman and the fetus, the American College of Obstetricians and Gynecologists and the American Academy of Pediatrics make recommendations regarding informed consent, the role of research subject advocates and other independent advocates, the availability of support services, the multidisciplinary nature of fetal intervention teams, the oversight of centers, and the need to accumulate maternal and fetal outcome data.

Cost-effective Imaging Approach to the Nonbilious Vomiting Infant

Objective. To develop a cost- and time-effective algorithm for differentiating hypertrophic pyloric stenosis (HPS) from other medical causes of emesis in infants referred from community-based pediatricians and family practitioners to the imaging department of a tertiary childrens care facility. Methods. Eighty-nine vomiting infants (22 females, 67 males) between the ages of 11 and 120 days (mean, 43.5 days) had received nothing by mouth for at least 1 hour before the study. Each child was assessed for duration of vomiting, status of body weight, time and volume of last ingestion, and time of last emesis. A #8 French (Sherwood Medical, St Louis, MO) nasogastric feeding tube was placed in the childs stomach. The contents were aspirated and measured to determine likelihood of HPS. An aspirated volume ≥5 mL implicated gastric outlet obstruction, and ultrasonography (US) was performed. If this study was positive for HPS, the patient was referred for surgery. If US was negative, an upper gastrointestinal series (UGI) was performed. An aspirated stomach contents volume <5 mL suggested a medical cause for the emesis, and UGI was performed. Pediatric surgeons with no knowledge of the volume results palpated the abdomens of 73 of 89 infants (82%). Results. Twenty-three of 89 patients (25%) had HPS. The aspirate criteria for HPS had a sensitivity of 91%, a specificity of 88%, and an accuracy of 89%. Of the false-positive studies (total = 8), six were related to recent significant ingestion (within 2 hours of the study), and two were attributable to antral dysmotility. The surgeons palpated the mass in 10 of 19 patients (53%). Sensitivity and specificity were 53% and 93%, respectively. Only 6 of 89 infants (7%) required both US and UGI to determine the etiology of the nonbilious vomiting. By performing the UGI in 66 patients, it was also found that 14% had slow gastric emptying and 79% had gastroesophageal reflux. Eighty-one percent of the gastroesophageal reflux was significant. Conclusion. The volumetric method of determining the proper imaging study is cost- and time-effective in the evaluation of the nonbilious vomiting infant for pyloric stenosis. If US was performed initially in all patients referred for imaging, two studies would have been performed in 68 of 89 patients (76%) to define the etiology of the emesis. Because we used the volumetric method, 62 fewer imaging studies were performed, representing a savings of

Interval appendectomy in perforated appendicitis

4464 and 30 hours of physician time. If children are given nothing by mouth for 3 to 4 hours before gastric aspiration, the specificity of the volumetric method improves to 94%, and the accuracy improves to 96%.

Policy statement - Consent for emergency medical services for children and adolescents

The treatment of the perforated appendix remains controversial, with the optimal timing of surgical intervention unclear. Previous studies have documented an increase in both minor and major complication rates in patients undergoing appendectomy for perforated appendicitis. We sought to evaluate the nonoperative therapy of perforated appendicitis followed by interval appendectomy. The charts of all children undergoing admission for appendicitis during a 10-year period (n = 480) were reviewed. Data were abstracted regarding patient presentation, laboratory and radiologic findings, operative and pathology reports, and postoperative course in those patients with perforated appendicitis (n = 104). Comparisons were made between patients undergoing primary appendectomy for perforated appendicitis (n = 87) and those treated with IV antibiotics and hydration and then scheduled for interval appendectomy 4 to 6 weeks following the acute event (n = 17). Treatment assignment was determined by the attending pediatric surgeon in a non-randomized fashion. No significant differences were seen between these two groups in days of antibiotic treatment, nasogastric decompression, and IV hydration. Additionally, total hospital days and cost did not differ significantly between the two groups (primary = 10.3 days and

Policy statement - Physician refusal to provide information or treatment on the basis of claims of conscience

10,550; interval = 13.3 days and

Ethical controversies in organ donation after circulatory death

13,221, P = 0.11 and 0.21, respectively). The overall complication rates, 12.6% in the primary group and 5.9% in the interval group, also did not differ significantly, while the major complication rate (wound dehiscence, abscess, and small-bowel obstruction), 10% versus 0%, was significantly higher in the primary group as compared with the interval group. Our data demonstrate no significant disadvantage, and possibly an improvement in the major complication rate, with nonoperative treatment of perforated appendicitis followed by interval appendectomy. We suggest that this treatment modality should be considered when evaluating the child with perforated appendicitis.

Policy statement - Pediatrician-family-patient relationships: Managing the boundaries

Parental consent generally is required for the medical evaluation and treatment of minor children. However, children and adolescents might require evaluation of and treatment for emergency medical conditions in situations in which a parent or legal guardian is not available to provide consent or conditions under which an adolescent patient might possess the legal authority to provide consent. In general, a medical screening examination and any medical care necessary and likely to prevent imminent and significant harm to the pediatric patient with an emergency medical condition should not be withheld or delayed because of problems obtaining consent. The purpose of this policy statement is to provide guidance in those situations in which parental consent is not readily available, in which parental consent is not necessary, or in which parental refusal of consent places a child at risk of significant harm.