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Acta Obstetricia Et Gynecologica... Jun 2021Claims of medical negligence are universal. Unexpected adverse pregnancy outcome may trigger litigation. Such outcomes, especially with neurodevelopmental sequelae, may...
INTRODUCTION
Claims of medical negligence are universal. Unexpected adverse pregnancy outcome may trigger litigation. Such outcomes, especially with neurodevelopmental sequelae, may be compounded by a genetic disorder, congenital abnormality, or syndrome.
MATERIAL AND METHODS
This is a report of 297 cases in which a pregnancy complication, error, or incident occurred that was followed by progeny with a genetic disorder, congenital abnormality, or syndrome that spawned litigation. The author assessed, opined, and in many cases, testified about causation.
RESULTS
Pregnancies complicated by hypoxic ischemic encephalopathy were not infrequently compounded by offspring with a genetic disorder, congenital abnormality, or syndrome. Multiple cases were brought because of missed ultrasound or laboratory diagnoses, or failures in carrier detection. Teratogenic medication prescribed before or during pregnancy invited legal purview. Failure to refer (or confer) for genetic evaluation or counseling in the face of significant risk, occurred repeatedly. Ethical breaches and hubris promptly led to litigation.
CONCLUSIONS
Many lessons and recommendations emerge in this report. These include the realization that the vast majority of errors in this series involved at least two caregivers, serial ultrasound studies are important, decreased fetal movements may signal a genetic disorder, congenital abnormality, or syndrome, family history and ethnicity are vital, cognitive biases profoundly affect decision-making. Finally, the simplest of errors have the potential for causing life-long grief.
Topics: Adult; Congenital Abnormalities; Female; Humans; Liability, Legal; Malpractice; Medical Errors; Obstetrics; Patient Safety; Pregnancy; Pregnancy Complications
PubMed: 33483959
DOI: 10.1111/aogs.14095 -
Seminars in Pediatric Surgery Jun 2024Congenital heart disease affects 1/100 live births and is one of the most common congenital abnormalities. The relationship between congenital heart disease and... (Review)
Review
Congenital heart disease affects 1/100 live births and is one of the most common congenital abnormalities. The relationship between congenital heart disease and lymphatic abnormalities and/or dysfunction is well documented and can be grossly divided into syndromic and non-syndromic etiologies. In patients with genetic syndromes (as examples listed above), there are known primary abnormal lymphatic development leading to a large pleiotropic manifestation of lymphatic dysfunction. Non-syndromic patients, or those without clear genetic etiologies for their lymphatic dysfunction, are often thought to be secondary to physiologic abnormalities as sequelae of congenital heart disease and palliative surgeries. Patients with congenital heart disease and lymphatic dysfunction have a wide variety of clinical manifestations for which there were not many therapeutic interventions available. The development of new imaging techniques allows us to understand better the pathophysiology of these problems and to develop different percutaneous interventions aiming to restore normal lymphatic function.
Topics: Humans; Heart Defects, Congenital; Lymphatic Abnormalities; Lymphatic Diseases
PubMed: 38830312
DOI: 10.1016/j.sempedsurg.2024.151419 -
Advances in Clinical and Experimental... Apr 2020The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian agenesis or aplasia, is a congenital disease manifested by the aplasia of the uterus and... (Review)
Review
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian agenesis or aplasia, is a congenital disease manifested by the aplasia of the uterus and the upper 2/3 of the vagina; its incidence is 1 in 4,000-5,000 female live births. We can distinguish 2 types of the MRKH syndrome: type I, which is characterized by an isolated absence of 2/3 of the vagina and uterus; and type II or MURCS (Müllerian duct aplasia, unilateral renal agenesis and cervicothoracic somite anomalies), which is also associated with other symptoms. The treatment of the MRKH syndrome patients aims at creating a neovagina and enabling sexual intercourse. Non-surgical techniques are the first-choice methods, and more than 90% of patients notice an anatomical and functional improvement if they are well-prepared emotionally. If non-surgical treatment does not bring about the expected results, a surgical procedure remains an option. The surgical method is mainly determined by the surgeon's experience. There are a few types of operations, though none of them seems superior to others. The next challenge is to provide these patients with a chance to become parents. Nowadays, a uterine transplant, a surrogate or adoption are the available solutions. An interdisciplinary approach is required, and the treatment should consist of medical and psychological support. This review presents the current knowledge about the MRKH syndrome with regard to the current methods of non-surgical and surgical treatment as well as a summary of the associated psychological problems.
Topics: 46, XX Disorders of Sex Development; Congenital Abnormalities; Female; Humans; Mullerian Ducts; Uterus; Vagina
PubMed: 32348039
DOI: 10.17219/acem/118850 -
The Journal of Pediatrics Aug 2023To assess the associations between congenital abnormalities and pediatric malignancies and evaluate the potential underlying molecular basis by collecting information on...
OBJECTIVE
To assess the associations between congenital abnormalities and pediatric malignancies and evaluate the potential underlying molecular basis by collecting information on pediatric patients with cancer and congenital abnormalities.
STUDY DESIGN
Tumeur Et Développement is a national, prospective, and retrospective multicenter study recording data of children with cancer and congenital abnormalities. When feasible, blood and tumoral samples are collected for virtual biobanking.
RESULTS
From June 2013 to December 2019, 679 associations between pediatric cancers and congenital abnormalities were recorded. The most represented cancers were central nervous system tumors (n = 139; 20%), leukemia and myelodysplastic syndromes (n = 123; 18.1%), and renal tumors (n = 101; 15%). Congenital abnormalities were not related to any known genetic disorder in 66.5% of cases. In this group, the most common anomaly was intellectual disability (22.3%), followed by musculoskeletal (14.2%) and genitourinary anomalies (12.4%). Intellectual disability was mostly associated with hematologic malignancies. Embryonic tumors (neuroblastoma, Wilms tumor, and rhabdomyosarcoma) were associated with consistent abnormalities, sometimes with a close anatomical neighborhood between the abnormality and the neoplasm.
CONCLUSIONS
In the first Tumeur Et Développement analysis, 3 major themes have been identified: (1) germline mutations with or without known cancer predisposition, (2) postzygotic events responsible for genomic mosaicism, (3) coincidental associations. New pathways involved in cancer development need to be investigated to improve our understanding of childhood cancers.
Topics: Child; Humans; Cohort Studies; Intellectual Disability; Prospective Studies; Biological Specimen Banks; Central Nervous System Neoplasms; Congenital Abnormalities
PubMed: 37169337
DOI: 10.1016/j.jpeds.2023.113451 -
Journal Francais D'ophtalmologie Sep 2019Congenital abnormalities of the optic disc are not uncommon in clinical practice and should be recognized. Size abnormalities of the optic disc include optic disc... (Review)
Review
Congenital abnormalities of the optic disc are not uncommon in clinical practice and should be recognized. Size abnormalities of the optic disc include optic disc aplasia, hypoplasia, megalopapilla, and optic disc cupping in prematurity. Among congenital excavations of the optic disc head, morning glory disc anomaly and optic disc pit can be complicated by serous retinal detachment; the papillorenal disc is an association of bilateral optic disc cupping and renal hypoplasia which should be ruled out; optic disc coloboma is caused by an abnormal closure of the embryonic fissure and can be complicated by choroidal neovascularization and retinal detachment. Other abnormalities that will be discussed are congenital tilted disc syndrome, duplicity of the optic disc head, congenital pigmentation of the optic disc head and myelinated retinal nerve fibers. All of these abnormalities can be associated with syndromes and neurological diseases, as well as other potentially blinding ophthalmological defects which can be secondarily complicated by amblyopia, strabismus and nystagmus. Thus, they should be recognized in order to plan for appropriate follow-up.
Topics: Coloboma; Eye Abnormalities; Humans; Optic Disk; Optic Nerve
PubMed: 30935696
DOI: 10.1016/j.jfo.2018.09.011 -
Nederlands Tijdschrift Voor Geneeskunde Feb 2020This case discussion on urethral coitus in Mayer-Rokitansky-Küster-Hauser syndrome shows that this rare syndrome can have major physical and psychological consequences....
This case discussion on urethral coitus in Mayer-Rokitansky-Küster-Hauser syndrome shows that this rare syndrome can have major physical and psychological consequences. Further consideration shows that a lack of common sense and a lack of action concerning sexual history-taking and careful vulvar examination is the reason that an iatrogenic sexual problem arose in this case. This was not the result of the initial denial of a rare diagnosis. Both attention to these aspects during training and supervision are necessary, since other disorders and medical treatments can also have a negative impact on sexuality.
Topics: 46, XX Disorders of Sex Development; Coitus; Congenital Abnormalities; Female; Humans; Iatrogenic Disease; Mullerian Ducts; Sexual Dysfunctions, Psychological; Urethral Diseases; Vulva
PubMed: 32392001
DOI: No ID Found -
Endocrinology and Metabolism Clinics of... Sep 2019Hyperglycemia is common during pregnancy, involving multisystem adaptations. Pregnancy-induced metabolic changes increase insulin resistance. Pregnancy-induced insulin... (Review)
Review
Hyperglycemia is common during pregnancy, involving multisystem adaptations. Pregnancy-induced metabolic changes increase insulin resistance. Pregnancy-induced insulin resistance adds to preexisting insulin resistance. Preexisting pancreatic β-cell defect compromises the ability to enhance insulin secretion, leading to hyperglycemia. Women with type 2 DM have similar rates of major congenital malformations, stillbirth, and neonatal mortality, but an even higher risk of perinatal mortality. In utero type 2 DM exposure confers greater risk and reduces time to development of type 2 DM in offspring. Preconception care to improve metabolic control in women with type 2 diabetes is critical.
Topics: Congenital Abnormalities; Diabetes Mellitus, Type 2; Female; Glycated Hemoglobin; Humans; Preconception Care; Pregnancy; Pregnancy Outcome; Pregnancy in Diabetics; Prenatal Exposure Delayed Effects
PubMed: 31345520
DOI: 10.1016/j.ecl.2019.05.009 -
Cold Spring Harbor Molecular Case... Oct 2020Congenital anomalies are common, with 2%-3% of infants estimated to have at least one major congenital malformation and countless others with minor malformations of... (Review)
Review
Congenital anomalies are common, with 2%-3% of infants estimated to have at least one major congenital malformation and countless others with minor malformations of lesser cosmetic or medical importance. As congenital malformations are major drivers of morbidity and mortality, representing the leading cause of infant mortality in the United States, there is substantial interest in understanding the underlying etiologies-particularly if modifiable causes may be identified or pre- or postnatal treatments can be offered. Recent research has begun to reveal the spectrum of monogenic disorders that commonly result in birth defects, and newer approaches have revealed non-Mendelian genetic contributions including gene-environment interactions. Our experience suggests that increased efforts to sequence and analyze cases of perinatal death, as well as continued global collaboration, will be essential in understanding the genomic landscape of structural anomalies.
Topics: Congenital Abnormalities; Family Characteristics; Female; Humans; Infant; Pregnancy
PubMed: 32826208
DOI: 10.1101/mcs.a005504 -
Urologia Internationalis 2022The urachus is an embryologic remnant which is formed from the obliteration of the allantois. Urachal abnormalities are caused when defective obliteration of the urachus...
INTRODUCTION
The urachus is an embryologic remnant which is formed from the obliteration of the allantois. Urachal abnormalities are caused when defective obliteration of the urachus happens. They are an infrequent condition. Incidence is estimated to be between 5,000 and 8,000 live births. Its diagnosis and management remain a challenge due to the lack of an specific clinical picture and the controversy about the management.
OBJECTIVE
The objective of this study is to assess the clinical presentation, diagnosis, therapeutic management, and outcomes of urachal anomalies in our health area.
MATERIALS AND METHODS
We performed a retrospective review of all cases of urachal anomalies recorded Tenerife (southern health area), La Gomera, and El Hierro Islands during a 5 year period.
RESULTS
Twenty-three cases of urachal pathology were included. The mean age of presentation was 32 years old. 73.9% were male. 65% were diagnosed in adults. In 30.3% of the cases, it was a casual finding. Symptoms included fever, umbilical exudate, hematuria, abdominal pain, and umbilical granuloma. The main diagnostic tests were ultrasound and computed tomography scan. Treatments were selected conservative management (43.5%), selective resection, partial cystectomy, and radical cystectomy. All patients had a good evolution. However, 2 cases where benign tumors were suspected, clinically, had a final histology of cancer in the specimen.
CONCLUSIONS
Due to the lack of a specific clinical picture and undefined findings in image tools, diagnosis is difficult and it may be inaccurate. Despite more data are needed, our results suggest that the systematic excision of urachal lesions could result in safer outcomes since cases where a benign lesion is clinically suspected might result in malignant tumors.
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Congenital Abnormalities; Female; Humans; Infant; Male; Middle Aged; Retrospective Studies; Treatment Outcome; Urachus; Young Adult
PubMed: 33957634
DOI: 10.1159/000515648 -
Current Opinion in Obstetrics &... Dec 2019The implementation of palliative care at birth has led to a significant rise in the number of couples who choose to continue with pregnancies complicated by... (Review)
Review
PURPOSE OF REVIEW
The implementation of palliative care at birth has led to a significant rise in the number of couples who choose to continue with pregnancies complicated by life-limiting malformations (LLMs). Prenatal counselling and appropriate antenatal/perinatal management in these cases are poorly studied and may pose significant challenges. The purpose of this review is to outline specific obstetric risks and to suggest management for mothers who choose to continue with pregnancies with the most common LLMs.
RECENT FINDINGS
In pregnancies complicated by LLMs where parents opt for expectant management, clinicians should respect parental wishes, whilst openly sharing potential serious maternal medical risks specific for the identified abnormalities. The focus of both antenatal and perinatal care should be maternal wellbeing rather than foetal survival. Follow-up ultrasound examinations and maternal surveillance should be aimed at achieving timely diagnosis and effective management of obstetric complications. A clear perinatal plan, agreed with the couples by a multi-disciplinary team including a foetal medicine specialist, a neonatologist and a geneticist, is crucial to reduce maternal morbidity.
SUMMARY
This review provides a useful framework for clinicians who face the challenges of counselling and managing cases complicated by LLMs where parents opt for pregnancy continuation.
Topics: Anencephaly; Congenital Abnormalities; Female; Genetic Counseling; Holoprosencephaly; Humans; Hydrops Fetalis; Neonatology; Obstetrics; Palliative Care; Patient Care Team; Pregnancy; Pregnancy Complications; Prenatal Care; Risk; Triploidy; Trisomy 13 Syndrome; Trisomy 18 Syndrome; Turner Syndrome; Ultrasonography
PubMed: 31693566
DOI: 10.1097/GCO.0000000000000583