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OBJECTIVES: To investigate fetal cases identified at our institution to determine whether an enlarged cavum septi pellucidi or cavum vergae is associated with other fetal abnormalities and whether its presence warrants more detailed investigation of the fetus. METHODS: In a retrospective study, 15 high- and low-risk patients undergoing prenatal sonography who had an enlarged cavum septi pellucidi or cavum vergae identified were reviewed. Data were collected for the sonographic study indication, gestation age at diagnosis of a prominent cavum, and associated anomalies. Follow-up outcome data regarding further imaging, karyotype, diagnosis of brain anomaly, and associated congenital abnormalities were obtained. RESULTS: Fifteen patients met the inclusion criteria. Nine patients were identified as having a prominent cavum septi pellucidi, and 6 were identified as having a prominent cavum vergae. The mean gestational age ± SD was 22.7 ± 5.9 weeks. Eleven patients made it to delivery. Of the 15 patients, 4 were thought to have trisomy 21, and 13 had congenital anomalies. Outcomes included 10 major adverse outcomes, 4 cases with normal development or minor abnormalities, and 1 lost to follow-up. An isolated dilated cavum on prenatal sonography was seen in 5 cases: 1 with lissencephaly on a neonatal examination, 3 premature deliveries (1 demise, 1 hospice, and 1 normal), and 1 unknown. CONCLUSIONS: Our cohort had many associated clinical anomalies: 3 confirmed trisomy 21 and 1 probable trisomy 21, 2 genetic disorders, and 10 major adverse outcomes, 5 of which were grave. Although we studied a small cohort, we conclude that an enlarged cavum septi pellucidi or cavum vergae warrants consideration of genetic counseling, which may include noninvasive prenatal testing (cell-free DNA), amniocentesis with microarray testing, or both.
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Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Anormalidades Congênitas/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Adolescente , Adulto , Encéfalo/embriologia , Anormalidades Congênitas/patologia , Feminino , Seguimentos , Humanos , Tamanho do Órgão , Gravidez , Estudos Retrospectivos , Septo Pelúcido/diagnóstico por imagem , Septo Pelúcido/embriologia , Septo Pelúcido/patologia , Adulto JovemRESUMO
A female infant, born at 37 week 5 days to a mother via induced vaginal delivery for preeclampsia, was prenatally diagnosed with a right aortic arch with vascular ring. On the third day of life, the infant exhibited a bronze-gray coloration, and a direct bilirubin of 1.7 mg/dL was detected. The abdominal ultrasound did not visualize the gallbladder. Clinically, the infant displayed features consistent with Alagille syndrome, including unusual facial appearance, butterfly vertebrae, cardiovascular defects, and cholestasis. The geneticist noted that the mother of the patient also exhibited similar features. Both the infant and the mother were diagnosed with Alagille syndrome, both having the same heterozygous JAG1 gene (NM_000214.2) variant (c.1890_1893del, p.Ile630Metfs*112). We believe that the vascular ring observed in our patient is the first reported instance of a vascular ring associated with Alagille syndrome.
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When parents face a potentially life-limiting fetal diagnosis in pregnancy, they then have a series of decisions to make. These include confirmatory testing, termination, and additional choices if they choose to continue the pregnancy. A perinatal palliative team provides a safe, compassionate, and caring space for parents to process their emotions and discuss their values. In a shared decision-making model, the team explores how a family's faith, experiences, values, and perspectives shape the goals for care. For some families, terminating a pregnancy for any reason conflicts with their faith or values and pursuing life prolonging treatments in order to give their baby the best chances for survival is the most important. For others, having a postnatal confirmatory diagnosis of a life limiting or serious medical condition gives them the assurance they need to allow their child a natural death. Others want care to be comfort-focused in order to maximize the time they have to be together as a family. Through this journey, a perinatal palliative team can provide the support and encouragement for families to express their goals and wishes, as well as find meaning and hope.
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BACKGROUND: Fetal specialists support standardizing the practice of offering women palliative care for life limiting fetal diagnoses. However, there is little data available regarding what fetal specialists do in practice. Since 2003, our center has kept a database of all women referred for fetal complications. METHODS: Retrospective electronic chart review of pregnant women between 2006 and 2012 using UCSD's Fetal Care and Genetics Center referral database. Objectives were to determine: (I) how many high risk pregnancies referred to the University of California San Diego Medical Center (UCSD) over a 6-year period have potentially life limiting fetal diagnoses; (II) pregnancy outcome; and (III) referral rate to perinatal palliative care. RESULTS: Between July 2006 and July 2012, 1,144 women were referred to UCSD's Fetal Care and Genetics Center, a tertiary care center. Of that cohort, 332 women (29%) were diagnosed prenatally with a potentially life limiting fetal diagnosis. Most women were Hispanic or Latino, married, and had previous children. The median gestation at confirmed diagnosis was 19 weeks. Trisomy 13, Trisomy 18, and anencephaly comprised 21% of cases. The pregnancy outcome was determined in 95% cases: 56% therapeutic abortion, 16% intrauterine fetal demise, and 23% live birth. Only 11% of cases were referred to perinatal palliative care. CONCLUSIONS: The vast majority of women with potentially life limiting fetal diagnoses are not referred to perinatal palliative care. Evaluation of how to integrate palliative care into high-risk obstetrics is needed.
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Doenças Fetais/mortalidade , Doenças do Recém-Nascido/mortalidade , Cuidados Paliativos/psicologia , Cuidados Paliativos/normas , Cuidado Pré-Natal/normas , Encaminhamento e Consulta/estatística & dados numéricos , Adulto , California , Estudos de Coortes , Feminino , Humanos , Recém-Nascido , Guias de Prática Clínica como Assunto , Gravidez , Resultado da Gravidez , Gravidez de Alto Risco , Gestantes , Diagnóstico Pré-Natal , Estudos RetrospectivosRESUMO
This article explores the 2014 Institute of Medicine׳s recommendation concerning primary palliative care as integral to all neonates and their families in the intensive care setting. We review trends in neonatology and barriers to implementing palliative care in intensive care settings. Neonatal primary palliative care education should address the unique needs of neonates and their families. The neonatal intensive care unit needs a mixed model of palliative care, where the neonatal team provides primary palliative care and the palliative subspecialist consults for more complex or refractory situations that exceed the primary team׳s skills or available time.
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Terapia Intensiva Neonatal/métodos , Neonatologia/métodos , Cuidados Paliativos/métodos , Atenção Primária à Saúde , Encaminhamento e Consulta , Comunicação , Currículo , Necessidades e Demandas de Serviços de Saúde , Humanos , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Terapia Intensiva Neonatal/tendências , Enfermagem Neonatal/educação , Enfermagem Neonatal/métodos , Enfermagem Neonatal/tendências , Neonatologia/educação , Neonatologia/tendências , Cuidados Paliativos/tendências , Equipe de Assistência ao Paciente , Relações Profissional-FamíliaRESUMO
BACKGROUND: Infants born at 23 weeks' gestation have a poor prognosis and require intensive care, including blood transfusions, to survive. Generally speaking, the decision to forgo life support is acceptable. Jehovah's Witnesses believe that life is sacred and want lifesaving interventions except for blood transfusions. Therefore, an ethical dilemma exists when a baby is born on the edge of viability to parents that are Jehovah's Witnesses. In this case, if parents and healthcare professionals disagree on the best interests of the child, the medical team should obtain a court order from the state to intervene. CASE REPORT: We present the case of an infant born at 23 weeks' gestation to parents who are Jehovah's Witnesses. The parents wanted full life-support, except for blood transfusions, to be given. The clinical team obtained a court order to transfuse the infant. The infant unfortunately died despite all efforts. CONCLUSIONS: Currently, it is nearly impossible to honor the beliefs of Jehovah's Witnesses to provide lifesaving treatments without blood transfusions for infants born at the border of viability. If the goal is to prolong life, the standard of care for a premature infant is for a doctor to obtain a court order to override the beliefs and wishes of Jehovah's Witness parents and transfuse blood products as medically indicated. Although bloodless techniques for high-risk surgeries are under development, care for premature infants at 23 weeks' gestation necessitates red cell transfusions.
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Transfusão de Eritrócitos , Recém-Nascido Prematuro , Testemunhas de Jeová , Transfusão de Eritrócitos/ética , Transfusão de Eritrócitos/legislação & jurisprudência , Evolução Fatal , Idade Gestacional , Hemoglobinas/análise , Humanos , Recém-Nascido , MasculinoRESUMO
BACKGROUND This is a case of a neonate with susceptibility to long QT syndrome (LQTS) who presented with a sudden unexpected infant death. Experts continue to debate whether universal electrocardiogram (ECG) screening of all newborns is feasible, practical, and cost-effective. CASE REPORT A 19-day-old neonate was found unresponsive by her mother. ECG showed ventricular fibrillation and a combination of a lidocaine drip plus multiple defibrillations converted the rhythm to normal sinus. Unfortunately, MRI brain imaging showed multiple infarcts and EEG showed burst suppression pattern with frequent seizures; life supportive treatment was stopped and the infant died. Genetic testing revealed two mutations in the KCNE2 gene consistent with susceptibility to LQTS type 6. CONCLUSIONS We believe this case is the first to demonstrate both a precipitating electrocardiographic and genetic cause of death for an infant with LQTS, showing a cause-and-effect relationship between LQTS mutation, ventricular arrhythmia, and death. We wonder whether universal ECG newborn screening to prevent LQTS death could have saved this baby.
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DNA/genética , Sistema de Condução Cardíaco/fisiopatologia , Síndrome do QT Longo/genética , Mutação , Canais de Potássio de Abertura Dependente da Tensão da Membrana/genética , Morte Súbita do Lactente/etiologia , Fibrilação Ventricular/genética , Análise Mutacional de DNA , Ecocardiografia , Eletrocardiografia , Feminino , Predisposição Genética para Doença , Testes Genéticos , Humanos , Recém-Nascido , Síndrome do QT Longo/complicações , Síndrome do QT Longo/diagnóstico , Canais de Potássio de Abertura Dependente da Tensão da Membrana/metabolismo , Morte Súbita do Lactente/diagnóstico , Fibrilação Ventricular/complicações , Fibrilação Ventricular/diagnósticoRESUMO
BACKGROUND Because there are clear benefits to breast milk over formula for infants, the goal of the World Health Organization is to increase breastfeeding rates. As more women are breastfeeding and providing breast milk to newborns in hospitals, there is increased risk for administration error. CASE REPORT A hospitalized preterm infant was breastfed by the wrong mother when the Neonatal Intensive Care Unit Nurse failed to properly identify the mother. An infectious disease workup done on the donor mother was negative, but the recipient infant was positive for cytomegalovirus (CMV). Since the donor mother who accidentally breastfed the wrong infant was CMV-negative, the baby in our case had likely been exposed to CMV from his biological mother. The attending physician apologized to all of the family members involved, but the father of one infant continued to express anger. CONCLUSIONS To our knowledge, this is the first case of accidental breastfeeding in a hospital setting to be described in the literature. Parental misidentification and a language barrier led to the error. An infectious disease workup did not find any evidence of disease transmission from this event. Increased attention to minimize breast milk errors is needed. Despite a long history of wet nursing, unregulated breast milk sharing and cross nursing is not recommended. Instead, if a mother cannot provide breast milk herself, pasteurized donor breast milk from breast milk banks is encouraged.
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Aleitamento Materno , Terapia Intensiva Neonatal , Erros Médicos , Sistemas de Identificação de Pacientes , Feminino , Humanos , Lactente , Recém-Nascido Prematuro , MasculinoRESUMO
A 27-year-old gravid 1 at 27 weeks 6 days with a history of hypothyroidism had an ultrasound that demonstrated a 3.9 × 3.2 × 3.3-cm well-circumscribed anterior neck mass, an extended fetal head, and polyhydramnios. Further characterization by magnetic resonance imaging (MRI) showed a fetal goiter. During her evaluation for the underlying cause of the fetal goiter, the patient revealed she was taking nutritional iodine supplements for treatment of her hypothyroidism. She was ingesting 62.5 times the recommended amount of daily iodine in pregnancy. The excessive iodine consumption caused suppression of the fetal thyroid hormone production, resulting in hypothyroidism and goiter formation. After the iodine supplement was discontinued, the fetal goiter decreased in size. At delivery, the airway was not compromised. The infant was found to have reversible hypothyroidism and bilateral hearing loss postnatally. This case illustrates the importance of examining for iatrogenic causes for fetal anomalies, especially in unregulated nutritional supplements.
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Doenças Fetais/induzido quimicamente , Bócio/induzido quimicamente , Perda Auditiva/induzido quimicamente , Hipotireoidismo/tratamento farmacológico , Iodo/efeitos adversos , Complicações na Gravidez/tratamento farmacológico , Adulto , Feminino , Doenças Fetais/diagnóstico por imagem , Humanos , Recém-Nascido , Iodo/uso terapêutico , Imageamento por Ressonância Magnética , Masculino , Exposição Materna , Gravidez , Diagnóstico Pré-Natal , Glândula Tireoide/diagnóstico por imagem , Glândula Tireoide/embriologia , Tireotropina/sangue , UltrassonografiaRESUMO
Studies of informed consent for neonatal research suggest that there are gaps in parental understanding of key aspects of research. Few studies have examined parental understanding and investigator disclosure simultaneously. This pilot study evaluated the content and processes of 21 audio-recorded consent discussions with parents of eligible newborns, as well as parents' self-reported comprehension of research elements following these discussions. Gaps in both investigator disclosure and parental understanding were found. Nevertheless, parents reported comprehension of a greater number of research elements than were actually disclosed by investigators. Our preliminary results indicate the feasibility and potential utility of jointly examining parental understanding and investigator behavior to characterize consent for neonatal research. Directions for future research are suggested.