scholarly journals A Case of Diprosopus: Perinatal Counseling and Management

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Kimberly M. Thornton ◽  
Timothy Bennett ◽  
Vivekanand Singh ◽  
Neil Mardis ◽  
Jennifer Linebarger ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Malformation ◽  
High Mortality ◽  
Genetic Mutations ◽  
Medical Providers ◽  
The Family ◽  
Beneficial Impact ◽  
Life Threatening

Diprosopus is a rare congenital malformation associated with high mortality. Here, we describe a patient with diprosopus, multiple life-threatening anomalies, and genetic mutations. Prenatal diagnosis and counseling made a beneficial impact on the family and medical providers in the care of this case.

scholarly journals Epignathus with Fetiform Features

2011 ◽  
Vol 3 (01) ◽  
pp. 056-058 ◽  
Author(s):  
Kumar Sunil Y. ◽  
Shrikrishna U. ◽  
Jayaprakash Shetty ◽  
Aishwarya Sitaram
Keyword(s):  
Prenatal Diagnosis ◽  
Airway Obstruction ◽  
Endotracheal Intubation ◽  
High Mortality ◽  
Neonatal Period ◽  
Complete Resection ◽  
Immature Teratoma ◽  
Male Baby ◽  
Threatening Condition ◽  
Life Threatening

ABSTRACTEpignathus is an extremely rare oropharyngeal teratoma that commonly arises from the palate, leading to a high mortality (80-100%) due to airway obstruction in the neonatal period. We present a case of epignathus immature teratoma with fetiform features, originating from basisphenoid in a 28-week preterm male baby, who succumbed to death immediately after birth. Since epignathus is a life-threatening condition at the time of delivery, a prenatal diagnosis is essential to coordinate the treatment and appropriate management by securing the airway, either by endotracheal intubation or tracheostomy followed by complete resection of the tumor.

Early ultrasound prenatal diagnosis of the Meckel — Gruber syndrome in combination with 47,XYY

2018 ◽  
Author(s):  
N.P. Veropotvelyan , E.S. Savarovskaya , T.V. Usenko
Keyword(s):  
Prenatal Diagnosis ◽  
Chorionic Villus ◽  
Autosomal Recessive Disorder ◽  
Chorionic Villus Sampling ◽  
Previous Pregnancy ◽  
Cystic Kidneys ◽  
Occipital Encephalocele ◽  
Posterior Fossa Cyst ◽  
The Family ◽  
Hands And Feet

Meckel — Gruber syndrome (MGS) is a rare lethal autosomal recessive disorder characterised by occipital encephalocele, polydactyly and bilateral dysplastic cystic kidneys. A case of prenatal diagnosis of MGS at 12 weeks of gestation is described. The previous pregnancy was terminated at 20 weeks due to polycystic kidneys of the fetus. The transabdominal scan of the present pregnancy revealed occipital encephalocele of the fetus. There was no oligohydramnios, but the fetal urinary bladder was not visualised and both kidneys were enlarged. The transvaginal sonogram demonstrated intracranial space dilatation (6 mm) and encepalocele with posterior fossa cyst, protrunding from the occipital bone deffect. The kidneys had the polycystic structure suggesting cystic dysplasia and there was no evidence of the hands and feet polydactyly. Based on these findings the diagnosis of the MGS was made. Chorionic villus sampling revealed 47,XYY. The family elected to terminate pregnancy and the diagnosis was confirmed by autopsy.

Prenatal Diagnosis

1992 ◽  
Vol 13 (9) ◽  
pp. 334-342
Author(s):  
John H. DiLiberti ◽  
Mark A. Greenstein ◽  
Sally Shulman Rosengren
Keyword(s):  
Prenatal Diagnosis ◽  
Imaging Techniques ◽  
Three Dimensional ◽  
Prenatal Testing ◽  
The Past ◽  
Computerized Image Processing ◽  
The Family ◽  
Family History Assessment ◽  
Additional Explanation ◽  
Pediatric Disorders

The enormous progress witnessed in the field of prenatal diagnosis during the past two decades is likely to continue into the future. Improved imaging techniques are likely to enhance the resolution of noninvasively obtained fetal images considerably over their current excellent quality. Although this undoubtedly will be true for ultrasonography, the increased speed of magnetic resonance equipment may offer a new realm of imaging possibilities. Computerized image processing, analysis, and three-dimensional reconstructions all should make interpretation of fetal images easier and more understandable to the nonspecialist. Advances in molecular genetics will continue to accelerate, greatly expanding the range and accuracy of prenatal diagnosis. The alert pediatrician who is sensitive to genetic issues may, by early detection of pediatric disorders and careful family history assessment, be in a position to identify families at risk for serious genetic conditions and provide the opportunity to make informed decisions on reproductive options that avert a major tragedy. The pediatrician, working with obstetric colleagues, should be part of a team effort to support families going through prenatal testing. Familiarity with these rapidly changing technologies will make it far easier to support the family needing additional explanation about prenatal diagnosis issues.

Counseling Families Who Have a Child with a Severe Congenital Anomaly

PEDIATRICS ◽  
1981 ◽  
Vol 67 (3) ◽  
pp. 321-324 ◽  
Author(s):  
Norman Fost
Keyword(s):  
Congenital Anomaly ◽  
Congenital Malformation ◽  
Conflicts Of Interest ◽  
Major Congenital Malformation ◽  
Legal Implications ◽  
The Family

The birth of an infant with a major congenital malformation is experienced by the family as a calamity. Parents have an urgent need for compassionate and skilled attention, and a long-term need for counseling to help them adapt to the crisis. The difficult ethical and legal implications of such cases further complicate the doctor's ability to care for the patient and family. Potential conflicts of interest have recently led to the use of voluntary consultation by hospital committees, or obligatory involvement by the courts.

Trisomy 21 in One of Twin Fetuses

PEDIATRICS ◽  
1978 ◽  
Vol 62 (1) ◽  
pp. 52-53
Author(s):  
Richard H. Heller ◽  
Lee S. Palmer
Keyword(s):  
Prenatal Diagnosis ◽  
Trisomy 21 ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Healthy Infant ◽  
The Other ◽  
Technical Problems ◽  
The Family ◽  
Successful Execution

Both the detection of twins and the successful execution of a double amniocentesis pose significant technical problems in prenatal diagnosis. A case is reported in which one of twin fetuses had trisomy 21 and the other was chromosomally normal. Following counseling, the family chose to continue the pregnancy. At term, the mother was delivered of a healthy infant and a severely macerated fetus with stigmata suggestive of Down's syndrome.

Post-intensive care syndrome (PICS) in children

2021 ◽  
pp. 95-105
Author(s):  
L. K. Karimova ◽  
V. O. Belash
Keyword(s):  
Mental Health ◽  
Intensive Care ◽  
Critically Ill ◽  
Pediatric Intensive Care ◽  
Functional Disorders ◽  
Mental Health Diagnosis ◽  
The Family ◽  
Life Threatening ◽  
Post Intensive Care Syndrome ◽  
Health Diagnosis

The survival rate of children who require intensive care for life-threatening diseases or injuries has recently increased significantly. In pediatric intensive care, a decrease in mortality is accompanied by an increase in morbidity. This trend has led to a shift in focus of attention from reducing mortality to optimizing outcomes in critically ill patients. A broader approach and focus on outcome in critically ill survivors has been greatly facilitated by the development of a concept that integrates post-intensive care (PIC) diseases into Post Intensive Care Syndrome (PICS). The concept of PIC syndrome implies the occurrence of disorders in patients after IC in three main areas: mental health, cognitive functions and physical health, and also takes into account the state of the family of surviving patients, in particular, parents, who often have a deterioration in mental health. Diagnosis and treatment of this condition involves the work of a multidisciplinary team, in which it is desirable to include an osteopathic doctor in order to more effectively and timely diagnose and correct reversible functional disorders.

There's Something Wrong with Michael: A Pediatrician-Mother's Perspective

PEDIATRICS ◽  
1983 ◽  
Vol 71 (3) ◽  
pp. 446-448
Author(s):  
Adrienne B. Butler
Keyword(s):  
Mental Retardation ◽  
Motor Activity ◽  
Congenital Malformation ◽  
Training Programs ◽  
Handicapped Child ◽  
Pediatric Care ◽  
Handicapped Children ◽  
Her Family ◽  
Pediatric Education ◽  
The Family

Pediatric education strongly emphasizes the psychosocial aspects of diseases of children. The pediatric literature, replete with articles about evaluation and treatment of children with developmental disabilities,1-6 rarely addresses adaptation of the family to the child with a major congenital malformation or mental retardation.7-10 The dearth of such articles in general pediatric journals in recent years is inconsistent with the stated emphasis on developmental pediatrics in our training programs.11 How does one teach pediatric house officers to deal with handicapped children and their families? The emotions unleashed by the day-to-day needs of a handicapped child are uncomfortable, and are, to a large extent, defended against, if not denied, by the medical caretaker. Although necessary for one's own emotional survival, and for the delivery of objective pediatric care, such defenses may, in fact, interfere with one's ability to deal optimally with such a child and his or her family.12 Being Michael's mother has changed all of that for me. I can remember vividly the date and time we first recognized that Michael had a problem. His placid disposition, coupled with a hectic household and our delight in having an "easy" baby for a third child, had combined into at most a vague sense of unease at his delay in motor activity. The realization that all was not well came to me suddenly and with urgency one night when Michael was nearly 7 months old. "I don't know why I keep fooling myself," I told my husband that night. "He should be rolling over.

Prenatal Genetic Diagnosis for Pediatricians

PEDIATRICS ◽  
1994 ◽  
Vol 93 (6) ◽  
pp. 1010-1015
Author(s):  
Keyword(s):  
Decision Making ◽  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Diagnostic Tests ◽  
Genetic Disorder ◽  
Genetic Diagnosis ◽  
Decision Making Process ◽  
Know How ◽  
Prenatal Genetic Diagnosis ◽  
The Family

Pediatricians may be called upon to counsel a family in which prenatal diagnosis is being considered or in which there is a fetus with a genetic disorder. In some settings, the pediatrician may be the primary resource for counseling the family. More frequently, counseling may already have been provided by a clinical geneticist and/or obstetrician. However, because of a previous relationship with the family, the pediatrician may be called upon to review this information and to assist the family in the decision-making process. The pediatrician should be familiar with the principles of prenatal genetic diagnosis and know how to apply them to specific problems in genetic counseling, diagnosis, and management in clinical practice. At the same time, pediatricians should be familiar with resources available in their region for obtaining information about whether and how a specific disorder can be diagnosed and when and where to refer patients for prenatal genetic diagnosis. The technology of prenatal diagnosis is changing rapidly, and genetic consultants can assist pediatricians in the appropriate utilization and interpretation of the diagnostic tests that are available.

Impact on the family

2021 ◽  
pp. 111-125
Author(s):  
Veronica Dussel ◽  
Barbara Jones
Keyword(s):  
Social Care ◽  
Family Members ◽  
Well Being ◽  
Family Unit ◽  
Health And Social Care ◽  
The Family ◽  
Threatening Condition ◽  
Life Threatening ◽  
Limiting Condition ◽  
The Impact

In this chapter, we will focus on the importance of caring for the family of a child with a life-limiting condition (LLC) or life-threatening condition as a unit, each of the family members being integral to the well-being and care of the others. We recognize that the family unit itself is embedded within a wider context including the health and social care system, and more broadly within its society and culture. We discuss the concept of family, exploring the impact of having a child with an LLC, and how families adjust to this. We then expand on considerations about how to offer effective and timely support and help. We have included parents’ narratives with the aim of adding depth to the discussion, and in recognition of the truth of families’ own experiences.

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