Using Patient-Centered Care After a Prenatal Diagnosis of Trisomy 18 or Trisomy 13: A Review. 2017

Shelly Haug, and Mitchell Goldstein, and Denise Cummins, and Elba Fayard, and T Allen Merritt
Division of Neonatology, Department of Pediatrics, Loma Linda University Children's Hospital, Loma Linda, California.

Patient-centered care (PCC) has been advocated by the Institute of Medicine to improve health care in the United States. Four concepts of PCC align with clinical ethics principles and are associated with enhanced patient/parent satisfaction. These concepts are dignity and respect, information sharing, participation, and collaboration. The objective of this article is to use the PCC approach as a framework for an extensive literature review evaluating the current status of counseling regarding prenatal diagnosis of trisomy 18 (T18) or trisomy 13 (T13) and to advocate PCC in the care of these infants. Extensive availability of prenatal screening and diagnostic testing has led to increased detection of chromosomal anomalies early in pregnancy. After diagnosis of T18 or T13, counseling and care have traditionally been based on assumptions that these aneuploidies are lethal or associated with poor quality of life, a view that is now being challenged. Recent evidence suggests that there is variability in outcomes that may be improved by postnatal interventions, and that quality-of-life assumptions are subjective. Parental advocacy for their infant's best interest mimics this variability as requests for resuscitation, neonatal intensive care, and surgical intervention are becoming more frequent. With new knowledge and increased parental advocacy, physicians face ethical decisions in formulating recommendations including interruption vs continuation of pregnancy, interventions to prolong life, and choices to offer medical or surgical procedures. We advocate a PCC approach, which has the potential to reduce harm when inadequate care and counseling strategies create conflicting values and uncertain outcomes between parents and caregivers in the treatment of infants with T18 and T13.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011296 Prenatal Diagnosis Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D011788 Quality of Life A generic concept reflecting concern with the modification and enhancement of life attributes, e.g., physical, political, moral, social environment as well as health and disease. HRQOL,Health-Related Quality Of Life,Life Quality,Health Related Quality Of Life
D002882 Chromosomes, Human, Pair 13 A specific pair of GROUP D CHROMOSOMES of the human chromosome classification. Chromosome 13
D002887 Chromosomes, Human, Pair 18 A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. Chromosome 18
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000073839 Trisomy 13 Syndrome A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 13. Clinical manifestations include CONGENITAL HEART DEFECTS (e.g., PATENT DUCTUS ARTERIOSUS), facial malformations (e.g., CLEFT LIP; CLEFT PALATE; COLOBOMA; MICROPHTHALMIA); HYPOTONIA, digit malformations (e.g., POLYDACTYLY or SYNDACTYLY), and SEIZURES and severe INTELLECTUAL DISABILITY associated with NERVOUS SYSTEM MALFORMATIONS. Bartholin-Patau Syndrome,Chromosome 13 Duplication,Chromosome 13 Trisomy Syndrome,Complete Trisomy 13 Syndrome,Mosaic Trisomy 13 Syndrome,Patau Syndrome,Patau's Syndrome,Trisomy 13,Trisomy 13 Syndromes,Bartholin Patau Syndrome,Chromosome 13 Duplications,Duplication, Chromosome 13,Pataus Syndrome

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