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Revista Brasileira de Enfermagem Dec 2019To identify maternal dilemmas about the diagnosis of fetal abnormality incompatible with life.
OBJECTIVE
To identify maternal dilemmas about the diagnosis of fetal abnormality incompatible with life.
METHOD
The exploratory-descriptive qualitative method was used. Eight women participated in the research between September/2016 and January/2017 through semi-structured interviews. The data were analyzed from the thematic analysis together with the ATLAS.ti software.
RESULTS
The experiences of this study were based on suffering and emotions. The termination choice was based on personal factors of women and families, such as information on pathology and religion. Diagnoses of incompatible fetal abnormalities bring the most different feelings to those involved. It is extremely important to establish a clear communication between woman, family and interdisciplinary team in the course of gestation and delivery, with elucidation about prognosis and therapeutic possibilities.
FINAL CONSIDERATIONS
It was visualized the importance of embracement, communication and treatment given by the multiprofessional health team.
Topics: Abortion, Legal; Adult; Congenital Abnormalities; Decision Making; Female; Fetus; Humans; Interviews as Topic; Obstetric Nursing; Pregnancy; Ultrasonography, Prenatal
PubMed: 31851244
DOI: 10.1590/0034-7167-2018-0234 -
The Journal of Perinatal & Neonatal... 2006Women confronted with prenatal diagnosis of fetal abnormality face emotionally challenging choice options and considerable uncertainty regarding impact of choice on... (Review)
Review
Women confronted with prenatal diagnosis of fetal abnormality face emotionally challenging choice options and considerable uncertainty regarding impact of choice on their families. Prenatal diagnosis of fetal abnormality presents childbearing women with difficult choices, such as continuation of pregnancy with no intervention, abortion, and, in selected cases, experimental fetal therapy. Regardless of their decision, it is a time of transition marked by grief and loss. The experience women and families have with the option chosen has an impact on their short- and long-term well-being. Healthcare providers are paramount in facilitating this transitional time in supporting family needs.
Topics: Abortion, Induced; Congenital Abnormalities; Decision Making; Family Nursing; Female; Fetal Diseases; Humans; Palliative Care; Pregnancy; Prenatal Diagnosis
PubMed: 16915056
DOI: 10.1097/00005237-200607000-00011 -
Congenital Anomalies Feb 2014The mandatory notification of patients ("cases") with different congenital abnormalities (CAs) diagnosed from birth until the end of the first postnatal year by medical... (Review)
Review
The mandatory notification of patients ("cases") with different congenital abnormalities (CAs) diagnosed from birth until the end of the first postnatal year by medical doctors was ordered by the Ministry of Health in Hungary in 1962 and this CA-registry was continued as the Hungarian Congenital Abnormality Registry (HCAR) based on the international recommendation from 1970. The primary objective of the HCAR has been to determine the baseline birth prevalence rate of different CAs as reliably as possible, with three secondary objectives: (i) to detect temporal and/or spatial clusters of CAs; (ii) to evaluate increasing or decreasing time trends of CAs; and (iii) to assist in the planning of medical and social services for children and families affected by CA so that appropriate resources are allocated efficiently and effectively. This paper summarizes the activities and the evolution of the HCAR over the past 50 years (1962-2011) including the Hungarian Case-Control Surveillance of Congenital Abnormalities for postmarketing surveillance of drug teratogenicity and prevention of CAs; the special evaluation of unidentified multiple CAs; the Hungarian Surveillance of Germinal Mutations and several international collaborations. In conclusion, Hungary enjoyed optimal conditions for the HCAR due to a centralized state health system; all deliveries took place in inpatient clinics; the quality of pediatric care was high and pediatricians notified most CAs. Autopsy was mandatory in infant death, the staff of the HCAR did not consider this CA-registry only as a statistical system but the Hungarian Center for Congenital Anomaly Control and the Hungarian Case-Control Surveillance of Congenital Abnormalities based on the HCAR worked with close collaboration with the parents in order to promote the possible good quality of life of their affected children and to prevent their risk of recurrence.
Topics: Congenital Abnormalities; Germ-Line Mutation; Humans; Hungary; Medical Records; Product Surveillance, Postmarketing; Registries
PubMed: 24588776
DOI: 10.1111/cga.12025 -
BMJ Case Reports Aug 2019Goldenhar syndrome, also known as , has been described since 1952. Traditionally, the syndrome has been described as having eye, ear, facial and vertebral anomalies....
Goldenhar syndrome, also known as , has been described since 1952. Traditionally, the syndrome has been described as having eye, ear, facial and vertebral anomalies. However, numerous case reports and reviews have highlighted multi-organ involvement, including cardiovascular, gastrointestinal, respiratory system and urinary abnormalities. We describe a 13 years old who has a reproductive tract abnormality, which has not been reported previously as a finding of Goldenhar syndrome.
Topics: 46, XX Disorders of Sex Development; Adolescent; Amenorrhea; Congenital Abnormalities; Diagnosis, Differential; Female; Goldenhar Syndrome; Humans; Karyotype; Mullerian Ducts; Patient Care Team; Ultrasonography; Urogenital Abnormalities
PubMed: 31466990
DOI: 10.1136/bcr-2019-230686 -
Acta Morphologica Hungarica 1984The so-called 89 VACTERL cases i.e. three or more combinations of vertebral abnormalities (V), anal atresia (A), cardial abnormalities (C), tracheo-oesophageal fistula...
The so-called 89 VACTERL cases i.e. three or more combinations of vertebral abnormalities (V), anal atresia (A), cardial abnormalities (C), tracheo-oesophageal fistula and/or oesophageal atresia (TE), renal agenesis and dysplasia (R), limb defect (mainly radial-type reduction or polydactyly) (L) were evaluated in the material of the Hungarian Congenital Malformation Register, 1970-1980. The separation of true VACTERL cases (without other major congenital abnormalities) and mixed VACTERL cases (with other major congenital abnormalities) seemed to be necessary. The latter may be a manifestation of several recognized syndromes. The VACTERL-association, i.e. three or more closely defined VACTERL-type abnormalities without other major abnormalities may, however, present a distinct congenital abnormality entity because (i) the combination of VACTERL-type abnormalities is much higher than the expected one, (ii) the majority of cases could not be identified as other multiple congenital abnormality entities and (iii) it has some epidemiological characteristics (e.g. male preponderance).
Topics: Abnormalities, Multiple; Anal Canal; Child; Child, Preschool; Esophagus; Female; Heart Defects, Congenital; Humans; Hungary; Kidney; Limb Deformities, Congenital; Male; Spine; Terminology as Topic; Trachea
PubMed: 6435405
DOI: No ID Found -
The Journal of Laryngology and Otology Sep 2012To report a case of first branchial arch abnormality and the problems associated with misdiagnosis. A succinct literature review is included. (Review)
Review
OBJECTIVE
To report a case of first branchial arch abnormality and the problems associated with misdiagnosis. A succinct literature review is included.
SETTING
Teaching hospital in Scotland.
METHODS
A 10-year-old girl presented with localised erythema and swelling in the left parotid region. This was treated with antibiotics and incision and drainage. She re-presented four years later with a history of recurrent discharge. A first branchial arch abnormality was suspected and a magnetic resonance imaging scan arranged.
RESULTS
Imaging showed a fluid-filled sinus tract originating adjacent to the anterior wall of the cartilaginous left external auditory canal. The sinus tract was seen to extend anteriorly and inferiorly through the superficial lobe of the left parotid, and to open onto the left cheek lateral to the left masseter. The tract was explored and excised under general anaesthesia, via two separate incisions, with preservation of the facial nerve.
CONCLUSION
The diagnosis of a first branchial arch abnormality is generally based on a high index of clinical suspicion, when a neck swelling is noted in a child. Magnetic resonance imaging is a useful modality for investigation, and helps to delineate the position of the tract and its relationship to the facial nerve.
Topics: Anti-Bacterial Agents; Branchial Region; Child; Congenital Abnormalities; Delayed Diagnosis; Diagnosis, Differential; Ear Canal; Facial Nerve; Female; Humans; Magnetic Resonance Imaging; Parotid Diseases; Recurrence; Reoperation; Streptococcal Infections; Treatment Outcome
PubMed: 22784993
DOI: 10.1017/S0022215112001508 -
Tidsskrift For Den Norske Laegeforening... Mar 2000
Topics: Abortion, Legal; Congenital Abnormalities; Ethics, Medical; Female; Humans; Norway; Pregnancy; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 10833953
DOI: No ID Found -
Orphanet Journal of Rare Diseases Dec 2011A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx,... (Review)
Review
A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. The estimated annual incidence of LC is 1/10,000 to 1/20,000 live births, accounting for 0.2% to 1.5% of congenital malformations of the larynx. These incidence rates may however be underestimated due to difficulty in diagnosing minor forms and a high mortality rate in severe forms. A slightly higher incidence has been reported in boys than in girls. No specific geographic distribution has been found. Depending on the severity of the malformation, patients may present with stridor, hoarse cry, swallowing difficulties, aspirations, cough, dyspnea and cyanosis through to early respiratory distress. Five types of laryngo-tracheo-esophageal cleft have been described based on the downward extension of the cleft, which typically correlates with the severity of symptoms: Type 0 laryngo-tracheo-esophageal cleft to Type 4 laryngo-tracheo-esophageal cleft. LC is often associated with other congenital abnormalities/anomalies (16% to 68%), mainly involving the gastro-intestinal tract, which include laryngomalacia, tracheo-bronchial dyskinesia, tracheo-bronchomalacia (mostly in types 3 and 4), and gastro-esophageal reflux disease (GERD). The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome. Laryngeal clefts result from failure of fusion of the posterior cricoid lamina and abnormal development of the tracheo-esophageal septum. The causes of the embryological developmental anomalies leading to LC are not known but are thought to be multifactorial. LC appears to be mostly sporadic although some familial cases with suspected autosomal dominant transmission have been reported. The age of diagnosis depends mainly on the severity of the clinical symptoms and therefore on the extent of the LC. Diagnosis is made either based on clinical manifestations or on investigations, such as endoscopy, X-ray, CT scan, performed for other conditions. Differential diagnoses include tracheo-bronchial fistula, gastro-esophageal reflux disease and neurological swallowing disorders, as well as laryngomalacia and laryngeal palsy. Prenatal diagnosis of LC has never been reported, although associated anomalies may be detected on fetal ultrasonography. Once the cleft is diagnosed, it is essential to determine its length to orient the management and treatment approach. Management involves maintenance of satisfactory ventilation, prevention of secondary pulmonary complications as a result of repeated aspirations, and adequate feeding. Endotracheal intubation may be required for respiratory distress in severe cases. Treatment requires endoscopic or external surgery to close the cleft. Surgery should be performed as early as possible to avoid complications related to aspiration and gastric reflux, except in type 0 and type 1 cases in which conservative measures must first be attempted. The prognosis is variable depending on the severity of the LC and associated malformations. Early diagnosis and appropriate treatment and management help to reduce mortality and morbidity.
Topics: Abnormalities, Multiple; Animals; Child; Child, Preschool; Congenital Abnormalities; Endoscopy; Esophagus; Female; Humans; Infant; Infant, Newborn; Larynx; Male; Prognosis; Rats; Trachea
PubMed: 22151899
DOI: 10.1186/1750-1172-6-81 -
Hippokrates May 1974
Topics: Abnormalities, Multiple; Congenital Abnormalities; Humans; Intellectual Disability; Syndrome
PubMed: 4845789
DOI: No ID Found -
Zentralblatt Fur Gynakologie Jan 2001The diagnosis of a lethal anomaly of the fetus can affect a pregnant woman in a traumatic way. Almost immediately she has to decide whether she wishes the pregnancy to... (Review)
Review
The diagnosis of a lethal anomaly of the fetus can affect a pregnant woman in a traumatic way. Almost immediately she has to decide whether she wishes the pregnancy to be terminated or not. Literature shows that such a loss is very difficult to cope with, and can lead to social isolation and depression. Contrary to popular belief the loss felt by the woman is at least the same to that following a stillbirth. Problems arise when the woman has difficulties in expressing her feelings, has a lack of self-esteem or receives very little social support. The prenatal diagnosis evokes an acute grief reaction. Only few studies are available regarding length, course and severity of grief in this case. Although an abortion through a fetal anomaly is a traumatic experience, research is vague on the trauma caused. Present day research of the psychological sequelae after the termination will be summarized. In respect to the current trauma-research lies the question of which psychiatric conditions arise from such a traumatic experience.
Topics: Abortion, Induced; Congenital Abnormalities; Female; Grief; Humans; Pregnancy; Prenatal Diagnosis
PubMed: 11385910
DOI: 10.1055/s-2001-12024