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Taiwanese Journal of Obstetrics &... Mar 2020Anomalies in the müllerian ducts are congenital alterations with more prevalence than it is imagined, varying from 0.5 to 6.7% in the general population and up to 16.7%... (Review)
Review
Anomalies in the müllerian ducts are congenital alterations with more prevalence than it is imagined, varying from 0.5 to 6.7% in the general population and up to 16.7% in women with recurrent miscarriage. The main findings are primary amenorrhea, dysmenorrhea, pelvic pain, endometriosis, sexual difficulties and low self-esteem. The major impact on the quality of life in women stricken by these problems justifies this study, whose objective is to analyze their most important aspects such as etiopathogeny, classification, diagnostic methods and proposed treatments. The research was performed on the Medline-PubMed database from 1904 to 2018. The American Fertility Society, European Society of Human Reproduction and Embryology, and the European Society of Gynaecological Endoscopy classify malformations as: Class 1/U5bC4V4: agenesis or hypoplasia of uterus and vagina; Class 1/U5aC4V4: cervical hypoplasia, associated with total or partial vaginal agenesis; Class 2/U4: unicornuate uterus; Class 3/U3bC2V1 or Class3/U3bC2V2: uterus didelphys; Class 4/U3C0: bicornuate uterus; Class 5/U2: septate uterus; Class 6: arcuate uterus; Class 7/U1: induced by diethylstilbestrol, represented by a T-shaped uterus; and V3: transverse vaginal septum. The diagnostic methods are the two-dimensional or three-dimensional ultrasound, MRI, hysterosalpingo-contrast-sonography, X-ray hysterosalpingography, hysteroscopy and laparoscopy. Some müllerian malformations are healed with surgery and/or self-dilatation. For vaginal agenesis, dilatation by Frank technique shows good results while malformations with obstruction of the menstrual flow need to be rapidly treated by surgery.
Topics: Adult; Congenital Abnormalities; Dysmenorrhea; Endometriosis; Female; Humans; Hysterosalpingography; Hysteroscopy; Laparoscopy; Magnetic Resonance Imaging; Mullerian Ducts; Pelvic Pain; Pregnancy; Sexual Dysfunction, Physiological; Ultrasonography; Urogenital Abnormalities; Uterus; Vagina
PubMed: 32127135
DOI: 10.1016/j.tjog.2020.01.003 -
British Journal of Hospital Medicine... Jul 2020Developmental dysplasia of the hip encompasses a range of hip abnormalities in which the femoral head and acetabulum fail to develop and articulate anatomically.... (Review)
Review
Developmental dysplasia of the hip encompasses a range of hip abnormalities in which the femoral head and acetabulum fail to develop and articulate anatomically. Developmental dysplasia of the hip is a clinically important condition, with a prevalence of 1-2/1000 in unscreened populations and 5-30/1000 in clinically screened populations. The pathology is incongruence between the femoral head and the acetabulum, which can be caused by an abnormally shaped femoral head, acetabulum, or both. This results in a spectrum of different hip abnormalities. The precise aetiology behind developmental dysplasia of the hip is unclear, but there are a number of established risk factors. In the UK, universal clinical examination of newborns and 6-8-week-old babies is performed under the national UK newborn screening programme for developmental dysplasia of the hip (part of the Newborn and Infant Physical Examination). The physical examination of the newborn hip involves initial inspection of the infant for any of the clinical features of developmental dysplasia of the hip, followed by hip stability tests (Barlow's and Ortolani's tests). Hip ultrasound is the gold standard diagnostic and monitoring tool for developmental dysplasia of the hip in newborns and infants under 6 months of age, or until ossification of the femoral head. Some mild cases of developmental dysplasia of the hip (and the immature hip) resolve without requiring intervention; however, there are a number of treatments, both non-operative and operative, that may be used at various stages of this condition.
Topics: Developmental Dysplasia of the Hip; Female; Genetic Predisposition to Disease; Hip Dislocation, Congenital; Humans; Infant, Newborn; Male; Neonatal Screening; Prevalence; Risk Factors; Sex Distribution
PubMed: 32730146
DOI: 10.12968/hmed.2020.0223 -
Mutation Research. Reviews in Mutation... 2020It is well established that maternal age is associated with a rapid decline in the production of healthy and high-quality oocytes resulting in reduced fertility in women... (Review)
Review
It is well established that maternal age is associated with a rapid decline in the production of healthy and high-quality oocytes resulting in reduced fertility in women older than 35 years of age. In particular, chromosome segregation errors during meiotic divisions are increasingly common and lead to the production of oocytes with an incorrect number of chromosomes, a condition known as aneuploidy. When an aneuploid oocyte is fertilized by a sperm it gives rise to an aneuploid embryo that, except in rare situations, will result in a spontaneous abortion. As females advance in age, they are at higher risk of infertility, miscarriage, or having a pregnancy affected by congenital birth defects such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Turner syndrome (monosomy X). Here, we review the potential molecular mechanisms associated with increased chromosome segregation errors during meiosis as a function of maternal age. Our review shows that multiple exogenous and endogenous factors contribute to the age-related increase in oocyte aneuploidy. Specifically, the weight of evidence indicates that recombination failure, cohesin deterioration, spindle assembly checkpoint (SAC) disregulation, abnormalities in post-translational modification of histones and tubulin, and mitochondrial dysfunction are the leading causes of oocyte aneuploidy associated with maternal aging. There is also growing evidence that dietary and other bioactive interventions may mitigate the effect of maternal aging on oocyte quality and oocyte aneuploidy, thereby improving fertility outcomes. Maternal age is a major concern for aneuploidy and genetic disorders in the offspring in the context of an increasing proportion of mothers having children at increasingly older ages. A better understanding of the mechanisms associated with maternal aging leading to aneuploidy and of intervention strategies that may mitigate these detrimental effects and reduce its occurrence are essential for preventing abnormal reproductive outcomes in the human population.
Topics: Aneuploidy; Cell Cycle Proteins; Chromosomal Proteins, Non-Histone; Chromosome Segregation; Congenital Abnormalities; Female; Humans; M Phase Cell Cycle Checkpoints; Maternal Age; Meiosis; Mitochondria; Oocytes; Cohesins
PubMed: 32800274
DOI: 10.1016/j.mrrev.2020.108320 -
The Journal of International Advanced... Aug 2019The aim of this report is to provide international recommendations for functional ear reconstruction in patients with microtia and aural atresia. All patients with...
The aim of this report is to provide international recommendations for functional ear reconstruction in patients with microtia and aural atresia. All patients with microtia and external auditory atresia should be seen in the setting of a multidisciplinary team and agreed treatment outcomes should be measured, so that techniques, approaches, and results can be compared. The methods are expert opinion from the members of the International Microtia and Atresia Workgroup (IMAW). The consensus recommendations reported herein take into account the variability in practice patterns present among experts in the field; the degree of consensus was quantified by presenting the percentage of above authors who agree or partially agree with each statement. Recommendations include the definition and classification of microtia/atresia, treatment of microtia, treatment of congenital aural atresia, flowchart of functional ear reconstruction, and future research directions. Patients with microtia and aural atresia can be guided by the consensus recommendations provided herein.
Topics: Child; Child, Preschool; Congenital Abnormalities; Congenital Microtia; Constriction, Pathologic; Ear; Ear, External; Ear, Middle; Humans; Plastic Surgery Procedures; Treatment Outcome
PubMed: 31418720
DOI: 10.5152/iao.2019.7383 -
Pediatrics in Review Apr 2021Congenital ear abnormalities present an aesthetic and psychosocial concern for pediatric patients and their parents. Diagnosis of external ear deformities is based on...
Congenital ear abnormalities present an aesthetic and psychosocial concern for pediatric patients and their parents. Diagnosis of external ear deformities is based on clinical examination and is facilitated by an understanding of normal ear anatomy. Ear anomalies can be categorized as malformations or deformations. Malformations are characterized by absent anatomical structures of the ear (or absence of the ear itself), as exemplified by microtia and anotia. Ear deformations are characterized by ear anatomical landmarks that are present but are distorted or abnormal, with Stahl ear, constricted ear, and prominent ear being common presentations. Ear malformations will not improve with growth of the patient and uniformly require surgical intervention to recreate an anatomically typical ear. Although a small percentage of ear deformations can self-resolve, most patients with ear deformations will require nonsurgical or surgical reconstruction to achieve a normal or more aesthetic ear. In recent decades the use of nonsurgical ear splinting or molding has been recognized as a highly effective method in correcting a variety of congenital ear deformations when treatment is initiated in the first 8 weeks of life. The urgency in initiating nonsurgical treatment of ear deformations at an early age makes prompt recognition of these ear deformations essential because surgical correction remains the only viable reconstructive option in older infants and children.
Topics: Aged; Child; Congenital Abnormalities; Ear, External; Face; Humans; Infant; Parents; Plastic Surgery Procedures
PubMed: 33795464
DOI: 10.1542/pir.2019-0167 -
Current Opinion in Pediatrics Dec 2019Dysmorphic features result from errors in morphogenesis frequently associated with genetic syndromes. Recognizing patterns of dysmorphic features is a critical step in... (Review)
Review
PURPOSE OF REVIEW
Dysmorphic features result from errors in morphogenesis frequently associated with genetic syndromes. Recognizing patterns of dysmorphic features is a critical step in the diagnosis and management of human congenital anomalies and genetic syndromes. This review presents recent developments in genetic syndromes and their related dysmorphology in diverse populations.
RECENT FINDINGS
Clinical findings in patients with genetic syndromes differ in their heterogeneity across different population groups. Some genetic syndromes have variable features in different ethnicities, in part due to specific background exam characteristics such as flat facial profiles or nasal differences; however, other genetic syndromes are similar across different ethnicities. Facial analysis technology is accurate in diagnosing genetic syndromes in populations around the world and is a powerful adjunct to conventional clinical examination. This accuracy also reinforces the concept that genetic syndromes can and should be diagnosed in any ethnicity.
SUMMARY
The increasing amount of data from studies on genetic syndromes in diverse populations is significantly improving our knowledge and approach to dysmorphic patients from various ethnic backgrounds. Optimal management of genetic syndromes requires early diagnosis, including in developing countries.
Topics: Congenital Abnormalities; Craniofacial Abnormalities; Face; Humans
PubMed: 31693576
DOI: 10.1097/MOP.0000000000000816 -
Ultrasound in Obstetrics & Gynecology :... Oct 2019To examine the performance of the routine 11-13-week scan in detecting fetal non-chromosomal abnormalities.
OBJECTIVE
To examine the performance of the routine 11-13-week scan in detecting fetal non-chromosomal abnormalities.
METHODS
This was a retrospective study of prospectively collected data from 100 997 singleton pregnancies attending for a routine ultrasound examination of fetal anatomy, performed according to a standardized protocol, at 11-13 weeks' gestation. All continuing pregnancies had an additional scan at 18-24 weeks and 71 754 had a scan at either 30-34 or 35-37 weeks. The final diagnosis of fetal abnormality was based on the results of postnatal examination in cases of live birth and on the findings of the last ultrasound examination in cases of pregnancy termination, miscarriage or stillbirth. The performance of the 11-13-week scan in the detection of fetal abnormalities was determined.
RESULTS
The study population contained 1720 (1.7%) pregnancies with a fetal abnormality, including 474 (27.6%) detected on the first-trimester scan, 926 (53.8%) detected on the second-trimester scan and 320 (18.6%) detected in the third trimester or postnatally. At 11-13 weeks' gestation, we diagnosed all cases of acrania, alobar holoprosencephaly, encephalocele, tricuspid or pulmonary atresia, pentalogy of Cantrell, ectopia cordis, exomphalos, gastroschisis and body-stalk anomaly and > 50% of cases of open spina bifida, hypoplastic left heart syndrome, atrioventricular septal defect, complex heart defect, left atrial isomerism (interrupted inferior vena cava with normal intracardiac anatomy), lower urinary tract obstruction, absence of extremities, fetal akinesia deformation sequence and lethal skeletal dysplasia. Common abnormalities that were detected in < 10% of cases at 11-13 weeks included ventriculomegaly, agenesis of the corpus callosum, isolated cleft lip, congenital pulmonary airway malformation, ventricular septal defect, abdominal cysts, unilateral renal agenesis or multicystic kidney, hydronephrosis, duplex kidney, hypospadias and talipes.
CONCLUSIONS
A routine 11-13-week scan, carried out according to a standardized protocol, can identify many severe non-chromosomal fetal abnormalities. A summary statistic of the performance of the first-trimester scan is futile because some abnormalities are always detectable, whereas others are either non-detectable or sometimes detectable. To maximize prenatal detection of abnormalities, additional scans in both the second and third trimesters are necessary. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.
Topics: Adult; Congenital Abnormalities; Female; Fetus; Gestational Age; Humans; Nuchal Translucency Measurement; Pregnancy; Pregnancy Trimester, First; Pregnancy Trimester, Second; Pregnancy Trimester, Third; Prenatal Care; Retrospective Studies; Ultrasonography, Prenatal
PubMed: 31408229
DOI: 10.1002/uog.20844 -
Current Biology : CB May 2022Interview with John Wallingford, who studies the cell biology of embryonic morphogenesis and the genetics of human birth defects at the University of Texas at Austin.
Interview with John Wallingford, who studies the cell biology of embryonic morphogenesis and the genetics of human birth defects at the University of Texas at Austin.
Topics: Congenital Abnormalities; Embryonic Development; Humans
PubMed: 35609534
DOI: 10.1016/j.cub.2022.04.050 -
American Journal of Obstetrics and... Nov 2021
Topics: Congenital Abnormalities; Diagnosis, Differential; Female; Humans; Kidney; Kidney Diseases; Pregnancy; Prognosis; Ultrasonography, Prenatal
PubMed: 34507792
DOI: 10.1016/j.ajog.2021.06.048 -
American Journal of Obstetrics and... Nov 2021
Topics: Congenital Abnormalities; Female; Genetic Testing; Humans; Kidney; Pelvis; Pregnancy; Prognosis; Ultrasonography, Prenatal
PubMed: 34507798
DOI: 10.1016/j.ajog.2021.06.047