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Pediatric Annals Feb 2020Benign congenital anomalies are common in neonates. Some of these common benign congenital anomalies include preauricular pits, sacral dimples, supernumerary digits,... (Review)
Review
Benign congenital anomalies are common in neonates. Some of these common benign congenital anomalies include preauricular pits, sacral dimples, supernumerary digits, accessory nipple, and natal teeth. It is important for health care providers who take care of newborns to recognize these benign anomalies so that unnecessary evaluations and investigations are not performed. However, some of these anomalies may be associated with clinically significant conditions. In this article, we discuss when further evaluation should be performed in babies presenting with these common benign congenital anomalies. [Pediatr Ann. 2020;49(2):e66-e70.].
Topics: Congenital Abnormalities; Humans; Infant, Newborn
PubMed: 32045484
DOI: 10.3928/19382359-20200121-03 -
Epidemiologia E Prevenzione 2020
Topics: Congenital Abnormalities; Humans; Italy
PubMed: 32374101
DOI: 10.19191/EP20.1.P004.005 -
American Journal of Medical Genetics.... May 2021Trisomy 13 is one of the three most common aneuploidy syndromes in live-born infants. It is associated with mortality rates as high as 90% within the first year of life,... (Review)
Review
Trisomy 13 is one of the three most common aneuploidy syndromes in live-born infants. It is associated with mortality rates as high as 90% within the first year of life, in large part, due to the high prevalence of severe congenital abnormalities that increase mortality and morbidity. However, life-saving and life-prolonging medical interventions are being performed at a higher rate for these infants, resulting in increased rates of survival. Although cardiac complications have been well described in infants with trisomy 13, these patients also experience other complications such as respiratory, neurological, genitourinary, abdominal, otolaryngologic, and orthopedic complications that can impact their quality of life. The goal of this review is to present a comprehensive description of complications in children with trisomy 13 to aid in the development of monitoring and treatment guidelines for the increasing number of providers who will be caring for these patients throughout their lives. Where the evidence is available, this review presents screening recommendations to allow for more rapid detection and documentation of these complications.
Topics: Aneuploidy; Congenital Abnormalities; Early Medical Intervention; Female; Guidelines as Topic; Humans; Infant, Newborn; Male; Trisomy 13 Syndrome
PubMed: 33709620
DOI: 10.1002/ajmg.a.62133 -
Advances in Experimental Medicine and... 2024Ebstein anomaly is a rare congenital heart defect, accounting for less than 1% of cardiac malformations and occurring in approximately 1 out of 210,000 live births. It... (Review)
Review
Ebstein anomaly is a rare congenital heart defect, accounting for less than 1% of cardiac malformations and occurring in approximately 1 out of 210,000 live births. It is characterized by an abnormality of the tricuspid valve, where the valve is positioned lower than normal in the right ventricle. Although primarily a tricuspid valve defect, the right ventricle itself is often structurally abnormal and weakened (myopathic).
Topics: Ebstein Anomaly; Humans; Tricuspid Valve; Heart Ventricles
PubMed: 38884758
DOI: 10.1007/978-3-031-44087-8_56 -
Ceska Gynekologie 2021Evaluation of the quality of sexual life of women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) after neovagina creation using dilation and surgical techniques.
OBJECTIVE
Evaluation of the quality of sexual life of women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) after neovagina creation using dilation and surgical techniques.
METHODS
Literature search of articles published in the years 2000–2021 using the databases Web of Science, Google Scholar and PubMed by key words: Mayer-Rokitansky-Küster-Hauser syndrome, neovagina, female sexuality and Female Sexual Function Index. We used a standardized international Female Sexual Function Index and other quantitative and qualitative parameters of sexual satisfaction to assess sexual function and overall satisfaction in women with neovagina.
RESULTS
It is possible to develop functional neovagina in women with MRKHS by either conservative or surgical techniques. The choice of the method used depends on the experience and skill of the surgeon, on the technical possibilities and equipment of the department, and on the anatomical predispositions and preferences of the patient. Satisfaction with sexual life also depends on the psychosexual maturity and sexual demands of both partners as well as on regular vaginal rehabilitation and quality of long-term psychological support. The functional results of dilation and surgical methods are comparable according to objective criteria. They only differ in individual aspects which correspond to the overall personality traits as well as to the character and quality of cohabitation.
CONCLUSION
Women with MRKHS are primarily handicapped by coital insufficiency and inability to reproduce naturally. Creating a neovagina technically allows them to realize satisfactory coitus, but in most cases, they are still frustrated by the primary problem of „physical indisposition“ and complicated path to motherhood.
Topics: 46, XX Disorders of Sex Development; Congenital Abnormalities; Czech Republic; Female; Humans; Mullerian Ducts; Sexuality; Surveys and Questionnaires; Vagina
PubMed: 34167312
DOI: 10.48095/cccg2021194 -
Paediatric Respiratory Reviews Feb 2020A laryngotracheoesophageal cleft (LC) is a rare congenital anomaly of the upper aerodigestive tract resulting from the absence of fusion of the posterior cricoid lamina,... (Review)
Review
A laryngotracheoesophageal cleft (LC) is a rare congenital anomaly of the upper aerodigestive tract resulting from the absence of fusion of the posterior cricoid lamina, which affects an abnormal communication between the larynx, trachea and esophagus. The genetic etiology of LC remains elusive. The involvement of genetic factors in the development of LC is suggested by reports of familial occurrence, and the increased prevalence of component features among first-degree relatives of affected individuals and murine knockout models. No consistent pattern of inheritance has been found in nonsyndromic patients, except for cases associated with described syndromes. Once the syndrome related to the laryngeal cleft is considered, an active search for the cleft must be initiated. The genetic evaluation of patients with LCs should be guided by the type and location of the malformation, specific medical history and a detailed physical examination. The application of genetic approaches, such as microarrays and exome sequencing might lead to elucidating the etiology of LCs.
Topics: Anal Canal; Arthrogryposis; CHARGE Syndrome; Congenital Abnormalities; Craniofacial Abnormalities; DiGeorge Syndrome; Ear; Ear Diseases; Esophagus; Heart Defects, Congenital; Humans; Hypertelorism; Hypopituitarism; Hypospadias; Intellectual Disability; Kidney; Larynx; Limb Deformities, Congenital; Pallister-Hall Syndrome; Spine; Trachea
PubMed: 31734186
DOI: 10.1016/j.prrv.2019.09.004 -
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 -
Anales de Pediatria Feb 2020
Topics: Congenital Abnormalities; Female; Humans; Infant; Kidney; Thorax
PubMed: 30773405
DOI: 10.1016/j.anpedi.2019.01.005 -
Journal of Assisted Reproduction and... May 2024The purpose of this narrative review was to assess the limited literature on fetal anomalies diagnosed in the second trimester of pregnancy and parental decision-making... (Review)
Review
PURPOSE
The purpose of this narrative review was to assess the limited literature on fetal anomalies diagnosed in the second trimester of pregnancy and parental decision-making and identify sources of information deemed as facilitators and barriers to medical decisions.
METHODS
This was a literature review of source material and information about fetal anomalies diagnosed in the second trimester of pregnancy, decision-making, decision tools or aids, and sources of information for anomalies. The search string used explored related peer-reviewed publications and systematic reviews between 2007 and 2024. We also reviewed references from publications meeting inclusion criteria. The search was conducted between June 2022 and February 2024. Exclusion criteria included conference abstracts, non-peer reviewed literature, and articles not available in English language. A total of 77 publications were identified by searching multiple databases using a predefined search string. The search encompassed full text articles from 2007 to 2024 and 11 full-text publications were ultimately included in the review. A list of 45 co-occurring keywords was generated from the included texts, with each keyword having a minimum of two co-occurrences.
RESULTS
Key themes identified included (1) the role of the clinician and need for development of professional knowledge and empathy surrounding discussion of fetal anomalies with patients; (2) information gathering, with individuals reporting use of multiple strategies to obtain information; while the majority found information satisfying, they preferred more details on diagnosis, long-term outcomes of the fetus/child and management of the pregnancy or termination process; and (3) decision-making, the path and process of how individuals made decisions about the pregnancy including quality of life, future fertility, and seeking other people's experiences.
CONCLUSION
Many factors contribute to an individual's decision-making after a diagnosis of a fetal anomalies diagnosed in the second trimester of pregnancy, ranging from personal beliefs and goals to shared experiences of others and access to care. Understanding how sources of information may be deemed both as facilitators and barriers to different individuals during the decision-making process is important for healthcare providers in order to understand how to most effectively support patients. There is a dearth of information on training healthcare professionals to provide support to patients facing these decisions.
Topics: Humans; Pregnancy; Female; Congenital Abnormalities; Decision Making; Prenatal Diagnosis; Pregnancy Trimester, Second
PubMed: 38630201
DOI: 10.1007/s10815-024-03112-x -
Expert Review of Clinical Pharmacology Sep 2020The medications used in assisted reproduction are given before and during early pregnancy, and hence, they may potentially result in adverse fetal effects. In this... (Review)
Review
INTRODUCTION
The medications used in assisted reproduction are given before and during early pregnancy, and hence, they may potentially result in adverse fetal effects. In this review we present an updated account of their fetal safety and discuss methodological challenges in interpretation of existing data.
AREAS COVERED
The fetal safety/risks of clomiphene citrate, aromatase inhibitors, metformin, gonadotropins and progestins are discussed. We searched PubMed, EMBASE, Cochrane, Google, and Google Scholar from inception to 30 April 2020 for publications pertinent to our topic.
EXPERT OPINION
There are several major challenges in studying fetal safety of medications used in assisted reproduction. The fact is that the rates of congenital malformations among infertile women giving birth spontaneously is higher than the rates among healthy women conceiving spontaneously. In most clinical studies of assisted reproduction, the primary endpoint is the success in inducing pregnancy, neglecting to report pregnancy outcome and adverse neonatal event. As an example for this reality, it has been estimated that between 1977 and 2005 around 10 million pregnancies were treated with dydrogesterone (DYD), yet till 2019 only very few studies, with a total sample size of less than 600 were reported with regards to fetal safety.
Topics: Congenital Abnormalities; Female; Fertility Agents, Female; Humans; Infant, Newborn; Infertility, Female; Pregnancy; Pregnancy Outcome
PubMed: 32815747
DOI: 10.1080/17512433.2020.1803738