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Ultrasound in Obstetrics & Gynecology :... Dec 2023Congenital knee dislocation (CKD) is a rare condition, affecting 1 in 100 000 newborns. Its prenatal diagnosis is challenging and not well described in the literature,... (Review)
Review
OBJECTIVES
Congenital knee dislocation (CKD) is a rare condition, affecting 1 in 100 000 newborns. Its prenatal diagnosis is challenging and not well described in the literature, especially when it appears isolated and not as part of a complex malformation or syndromic pattern. The purpose of this study was to provide a comprehensive review of the available literature on the prenatal diagnosis and postnatal outcome of CKD and to summarize the current evidence on this topic.
METHODS
A systematic review of the literature on the prenatal diagnosis of CKD was performed in PubMed, Scopus and EMBASE. A predefined combination of specific keywords was used, focusing on intrauterine manifestations, diagnostic methods, prenatal behavior, postnatal treatment and neonatal outcome as well as long-term outcome in terms of ambulation, motion and joint stability. The quality of studies was assessed using the National Institutes of Health tool for quality assessment of case series. A summary of results was carried out providing proportions and rates of diagnostic and prognostic features associated with this rare condition.
RESULTS
In total, 20 cases were retrieved for analysis, of which 19 were obtained from the identified eligible studies (n = 16) and one was an unpublished case from our center. The median gestational age at prenatal diagnosis, which was made using ultrasound in most cases, was 20 weeks (range, 14-38 weeks). Bilaterality was observed in 11/20 (55%) cases. The condition was isolated in 7/20 (35%) cases and associated with other anomalies in 13/20 (65%) cases. An association was observed with oligohydramnios (4/20 (20%)), and an invasive procedure was performed in 13/20 (65%) cases, including 11 cases with an invasive procedure performed for diagnostic purposes. Genetic testing was normal in all isolated cases for which information was available (4/7), while a genetic syndrome was present in 10/13 (77%) non-isolated cases (Larsen, Noonan, Grebe, Desbuquois or Escobar syndrome). There were seven terminations of pregnancy, of which six were performed in cases with associated anomalies and one in an isolated case, 11 cases of postnatal survival, one case of intrauterine death and one of neonatal death. The fetal and neonatal deaths occurred in cases with associated anomalies or abnormal genetic findings. Postnatal treatment was mostly conservative, with only two reports (18% of the 11 surviving neonates) of surgical intervention, both in cases with associated anomalies. Postnatal follow-up was up to 1 year in most cases, and motor outlook appeared normal in all isolated cases.
CONCLUSIONS
CKD is a rare fetal anomaly with a prenatal diagnosis achievable from the early second trimester, for which a favorable outcome can be expected when no associated anomalies are present. Prenatal diagnosis should include detailed ultrasound assessment and amniocentesis for extensive genetic studies, particularly in non-isolated cases. Early postnatal treatment achieves success in most cases without surgical intervention and leads to a normal motor outlook. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Female; Humans; Infant, Newborn; Pregnancy; Fetus; Genetic Testing; Prenatal Diagnosis; Renal Insufficiency, Chronic; Retrospective Studies; Ultrasonography, Prenatal
PubMed: 37289939
DOI: 10.1002/uog.26283 -
Ultrasound in Obstetrics & Gynecology :... Jan 2024Type-III vasa previa (VP) is a rare form of VP, not necessarily associated with other placental or vascular anomalies, in which aberrant vessels run from the placenta to... (Review)
Review
OBJECTIVE
Type-III vasa previa (VP) is a rare form of VP, not necessarily associated with other placental or vascular anomalies, in which aberrant vessels run from the placenta to the amniotic membranes, near the internal cervical os, before returning to the placenta. Early diagnosis of Type-III VP is important but technically challenging. The objective of this study was to gather the current available evidence on the perinatal diagnosis and outcome of Type-III VP.
METHODS
A systematic review of the literature on the perinatal diagnosis of atypical Type-III VP was carried out in PubMed, MEDLINE and EMBASE accordingto PRISMA guidelines from inception to March 2023. Data extraction and tabulation were performed by two operators and checked by a third senior author. The quality of the included studies was evaluated using the National Institutes of Health tool for the quality assessment of case-series studies. Our local ultrasound database was searched for previously unreported recent cases. Characteristics of prenatally and postnatally diagnosed Type-III VP, including clinical features and perinatal outcomes, were summarized using descriptive statistics.
RESULTS
Eighteen cases of Type-III VP were included, of which 16 were diagnosed prenatally (14 cases were retrieved from 10 publications and two were unpublished cases from our center) and two were diagnosed postnatally (retrieved from two publications). All prenatal cases were diagnosed on transvaginal ultrasound at a mean gestational age of 29 weeks (median, 31 weeks; range, 19-38 weeks). Conception was achieved with in-vitro fertilization in 4/16 (25.0%) cases. There were no prenatal symptoms in 15/18 (83.3%) cases, while in two (11.1%) cases there was vaginal bleeding and in one (5.6%) preterm labor occurred. In 15/18 (83.3%) cases, at least one placental abnormality was observed, including low-lying insertion (9/17), succenturiate or accessory lobe (1/17), velamentous cord insertion (3/18) and marginal insertion (9/18). All prenatally diagnosed cases were liveborn and were delivered by Cesarean section before rupture of membranes at a median gestational age of 35 weeks (range, 32-38 weeks) without neonatal complications. Emergency Cesarean section was performed in 2/16 (12.5%) cases with a prenatal diagnosis and 1/2 (50.0%) cases with a postnatal diagnosis (P = 0.179). Among those with data available, an Apgar score of ≤ 7 was observed in the prenatally vs postnatally diagnosed group in 5/13 vs 1/1 cases, respectively, at the 1-min evaluation and 3/13 vs 1/1 cases, respectively, at the 5-min evaluation.
CONCLUSIONS
The prenatal diagnosis of Type-III VP is challenging, with few cases reported in the literature; however, it is crucial for minimizing the risk of adverse outcome by enabling early-term elective Cesarean delivery prior to rupture of membranes. Given that clinical manifestations and risk factors are non-specific, and that Type-III VP cannot be excluded when there is a normal cord insertion or a singular placental mass, systematic screening by transvaginal ultrasound in the general pregnant population is recommended, particularly in those with a low-lying or morphologically abnormal placenta and those who conceived using assisted reproductive technology. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Female; Humans; Infant, Newborn; Pregnancy; Cesarean Section; Placenta; Placenta Diseases; Prenatal Diagnosis; Ultrasonography, Prenatal; Vasa Previa
PubMed: 37470694
DOI: 10.1002/uog.26315 -
European Journal of Obstetrics,... Mar 2017The objective of this study was to review literature about the correlation between fetal autopsy and ultrasound findings of fetal malformations. Search in PubMed,... (Review)
Review
UNLABELLED
The objective of this study was to review literature about the correlation between fetal autopsy and ultrasound findings of fetal malformations. Search in PubMed, Medline, EMBASE, Clinicl trials.org, reference list was performed. Inclusion criteria for studies selection were: fetal autopsy performed after termination of pregnancy (TOP) or stillbirth, TOP for fetal anomalies, prenatal diagnosis of malformations, data reported as proportional rates.
EXCLUSION CRITERIA
case reports, non English language, data reported in graphs or percentage. From each article: sample size, type of malformation, indication for TOP, autopsy findings. Fetal anomalies were grouped in central nervous system (CNS), genitourinary (GU), congenital heart defects (CHD), gastrointestinal (GI), thorax, limbs, skeleton, genetics (TOP for abnormal karyotype), multiples (TOP for multiple severe malformations for which a single indication for TOP/stillbirth could not be identified). Correspondence between autopsy and ultrasound was defined as agreement (same diagnosis), additional (additional findings undetected by ultrasound), unconfirmed (false positive and false negative ultrasound). PRISMA guidelines were followed. From 19 articles, 3534 fetuses underwent autopsy, which confirmed prenatal ultrasound in 2401 (68.0%) fetuses, provided additional information in 794 (22.5%) fetuses, and unconfirmed prenatal ultrasound in 329 (9.2%) fetuses. The latter group consisted of 3.2% false positive and 2.8% false negative cases. The additional findings changed the final diagnosis in 3.8% of cases. The most frequent indication for TOP/stillbirth was CNS anomalies (36.3%), whereas thorax anomalies represented the less frequent indication (1.7%). The highest agreement between autopsy and prenatal ultrasound was observed in CNS (79.4%) and genetics (79.2%), followed by GU anomalies (76.6%), skeleton (76.6%), CHD (75.5%), thorax (69.7%); GI (62.6%), multiple (37.0%), limbs (23.3%). In spite of the high agreement between prenatal ultrasound and autopsy, fetal examination is mandatory because in a minority of cases it discloses additional findings or changes the final diagnosis and genetic counselling.
Topics: Autopsy; Congenital Abnormalities; Female; Fetus; Humans; Infant, Newborn; Pregnancy; Ultrasonography, Prenatal
PubMed: 28061423
DOI: 10.1016/j.ejogrb.2016.12.024 -
Contemporary Clinical Dentistry 2018Cleft lip and/or palate is the most common congenital craniofacial anomaly. Prenatal diagnosis of the craniofacial anomalies is possible with the advent of newer imaging... (Review)
Review
INTRODUCTION AND BACKGROUND
Cleft lip and/or palate is the most common congenital craniofacial anomaly. Prenatal diagnosis of the craniofacial anomalies is possible with the advent of newer imaging modalities. The identification of the defect at an early stage in the pregnancy helps the parents to be well informed and counseled regarding the treatment possibilities and outcomes of cleft lip and palate (CLP) treatment.
OBJECTIVES
To analyze the psychological effects of prenatal diagnosis of CLP on the parents.
MATERIALS AND METHODS
PubMed, Cochrane, and Google Scholar searches were made with search strings "prenatal diagnosis cleft lip palate," "antenatal diagnosis," "anomaly scan," "psychological effect cleft lip palate," and "prenatal counseling cleft lip palate." Of the results obtained, studies which evaluated the psychological aspects of parents of cleft children were further included in the study.
RESULTS
Electronic search yielded 500 articles after duplication removal. Forty studies concentrated on the results of the scan and their implications predominantly in the diagnosis and management of cleft and other related abnormalities. Eight studies discussed the effects of prenatal diagnosis and counseling on the parents.
CONCLUSION
Prenatal diagnosis enables appropriate and timely counseling of the parents by the cleft team and helps instill a sense of preparedness for the family which highly improves the quality of treatment received by the child enabling a near-to-normal quality and standard of life.
PubMed: 29875578
DOI: 10.4103/ccd.ccd_673_17 -
The Journal of Maternal-fetal &... Oct 2022Mirror syndrome is a rare disease associated with high fetal mortality of up to 67.2%. It is thought to be underdiagnosed and is often associated with preeclampsia.... (Review)
Review
INTRODUCTION
Mirror syndrome is a rare disease associated with high fetal mortality of up to 67.2%. It is thought to be underdiagnosed and is often associated with preeclampsia. Mirror syndrome is characterized by "triple edema": generalized maternal, placental, and fetal edema.
OBJECTIVE
This comprehensive review aims to thoroughly summarize the existing data and provide a broad update on the topic to help accurate diagnosis and encourage further research.
METHODS
A comprehensive search of several databases (Ovid MEDLINE(R) and Epub Ahead of Print, In-Process & Other Non-Indexed Citations, and Daily, Ovid EMBASE, Ovid Cochrane Central Register of Controlled Trials, Ovid Cochrane Database of Systematic Reviews, and Scopus) was conducted.
RESULTS
The last systematic review of mirror syndrome cases was conducted in 2016 and included 113 patients. Much is still unknown about the pathophysiology of the disease and it remains underdiagnosed.
CONCLUSIONS AND RELEVANCE
Mirror syndrome is likely more prevalent than current data suggests for it is often misdiagnosed as pre-eclampsia. The differential of Mirror syndrome should be considered in anomalous presentations of pre-eclampsia as intervention may save the fetus and improve maternal symptoms. It is important to further the study on the pathophysiology of the disease to better understand, diagnose and potentially treat it, to avoid its high morbidity and mortality.
Topics: Edema; Female; Humans; Hydrops Fetalis; Placenta; Pre-Eclampsia; Pregnancy; Syndrome; Systematic Reviews as Topic
PubMed: 33722118
DOI: 10.1080/14767058.2020.1844656 -
Child's Nervous System : ChNS :... Apr 2020Primary cysts are believed to arise from the splitting of the arachnoid membrane during prenatal development and can be diagnosed in utero. Prenatal diagnosis is...
INTRODUCTION
Primary cysts are believed to arise from the splitting of the arachnoid membrane during prenatal development and can be diagnosed in utero. Prenatal diagnosis is uncommon; therefore, the evidence base for counselling expectant mothers is limited. The purpose of this article is to present a case series and review the current literature on prenatally diagnosed arachnoid cysts.
METHOD
A keyword search of hospital electronic records was performed for all patients with a prenatally diagnosed arachnoid cyst at a tertiary neurosurgical centre. Case notes were reviewed for all patients diagnosed between 2005 and 2017. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were used to structure a systematic review of all English language articles published up to May 2018.
RESULTS
A total of eight eligible patients were identified from our own records and 123 from the literature. Sixty-eight per cent of patients had a normal outcome. Sixty-three per cent of patients underwent surgical intervention which was not associated with abnormal outcome. The diagnosis of syndromic/genetic diagnosis (p < 0.001) and the presence of other intra-cranial anatomical abnormalities (p = 0.05) were significant predictors of abnormal outcome.
CONCLUSION
The pathogenesis and prognosis of a prenatal arachnoid cyst diagnosis remain unclear. These results suggest favourable outcomes from simple cysts without associated abnormalities and expectant mothers should be counselled accordingly. A wider prospective review is required to better established evidence-based practice.
Topics: Arachnoid Cysts; Female; Humans; Pregnancy; Prenatal Diagnosis; Prognosis; Prospective Studies
PubMed: 31897633
DOI: 10.1007/s00381-019-04477-6 -
European Journal of Paediatric... Nov 2019The aim is to present a systematic review of all the published cases of prenatally diagnosed pericallosal lipomas, their features and associations with other anomalies...
The aim is to present a systematic review of all the published cases of prenatally diagnosed pericallosal lipomas, their features and associations with other anomalies or syndromes and their post-natal evolution. We performed a Pubmed-based systematic review, including all the published cases of prenatal diagnosis of pericallosal lipoma, written in English, Spanish or French. We analysed gestational age at diagnosis, prenatal ultrasound characteristics of the lipoma, prenatally diagnosed associated anomalies, neonatal findings, outcomes and duration of follow-up. We gathered data from 49 cases of prenatally diagnosed pericallosal lipoma. Mean gestational age at diagnosis was 29.6 weeks. The type of lipoma was: not specified in 8 cases, tubulonodular in 17 cases, curvilinear in 24 cases. Corpus callosum was hypoplastic in 19 cases of curvilinear lipomas (79.2%) and 3 cases of tubulonodular lipomas (17.6%) (p < 0.001). There was agenesis (partial or complete) of corpus callosum in 76.5% of the cases of tubulonodular lipoma and 8.3% of the cases of curvilinear lipoma (p < 0.001). There were three cases of Pai syndrome, and three cases of Goldenhar syndrome. Mean post-natal follow-up was 36.3 months. Neurological evaluation was normal in 92.1% of the cases (75% of the tubulonodular lipoma, 100% of the curvilinear lipoma, p < 0.05). Tubulonodular lipomas present a higher frequency of associated neurological anomalies. A thorough study of the lipoma and a search of associated anomalies is paramount. Parental counselling should take into account this classification and associated findings as the prognosis varies widely. Further studies with longer follow-up are necessary to increase our knowledge.
Topics: Abnormalities, Multiple; Brain Neoplasms; Female; Humans; Lipoma; Male; Pregnancy; Prenatal Diagnosis
PubMed: 31587959
DOI: 10.1016/j.ejpn.2019.09.009 -
Current Opinion in Obstetrics &... Dec 2018Vasa previa is a rare disorder of placentation associated with a high rate of perinatal morbidity and mortality when undetected before delivery. We have evaluated the...
PURPOSE OF REVIEW
Vasa previa is a rare disorder of placentation associated with a high rate of perinatal morbidity and mortality when undetected before delivery. We have evaluated the recent evidence for prenatal diagnosis and management of vasa previa.
RECENT FINDINGS
Around 85% of cases of vasa previa have one or more identifiable risk factors including in-vitro fertilization, multiple gestations, bilobed, succenturiate or low-lying placentas, and velamentous cord insertion. The development of standardized prenatal targeted scanning protocols may improve perinatal outcomes. There is no clear consensus on the optimal surveillance strategy including the need for hospitalization, timing of corticosteroids administration and the value of transvaginal cervical length measurements. Outpatient management is possible if there is no evidence of cervical shortening on ultrasound and there are no symptoms of bleeding or uterine contractions. Recent national guidelines and expert reviews have recommended scheduled cesarean section of all asymptomatic women presenting with vasa previa between 34 and 36 weeks' gestation.
SUMMARY
Prenatal diagnosis of vasa previa is pivotal to prevent intrapartum fetal death. Although there is insufficient evidence to support the universal mid-gestation ultrasound screening for vasa previa, recent evidence indicates the need for standardized prenatal targeted screening protocols of pregnancies at high-risk of vasa previa.
Topics: Adrenal Cortex Hormones; Adult; Cervical Length Measurement; Cesarean Section; Early Diagnosis; Female; Gestational Age; Humans; Practice Guidelines as Topic; Pregnancy; Pregnancy Complications; Prenatal Diagnosis; Risk Factors; Ultrasonography, Prenatal; Vasa Previa
PubMed: 30102606
DOI: 10.1097/GCO.0000000000000478 -
The Journal of Maternal-fetal &... May 2018Congenital portosystemic shunts (CPSS) are rare, congenital malformations that are increasingly often discovered during the fetal period, and for which, the... (Review)
Review
AIM
Congenital portosystemic shunts (CPSS) are rare, congenital malformations that are increasingly often discovered during the fetal period, and for which, the manifestations and evolution are poorly understood. The objective of this review is to describe the phenotype and evolution of forms diagnosed in the antenatal period.
MATERIALS AND METHODS
We performed a systematic review of the literature cited in Pubmed between 1982 and 2016 for CPSS cases diagnosed during the fetal period.
RESULTS
We identified 123 cases. The median age at diagnosis was 25 GA (14-38 weeks GA). Eighty patients had 128 associated congenital anomalies. The congenital abnormalities most frequently associated with antenatal diagnosis of CPSS were congenital cardiac disease (30 cases), intrauterine growth restriction (21 cases), vascular anomalies (14 cases), and trisomy 21 (7 cases). Seventy-five complications were reported in the literature. The most frequent were antenatal hemodynamic abnormalities (27 cases), neonatal cholestasis (11 cases), and hyperammonemia (10 cases). Twenty-nine patients had no complications. The choice of treatment was conservative in 29/56 cases, interventional radiology in 15 cases and surgery in 15 cases (three of the latter after failure of embolization).
CONCLUSION
From this review, we propose an algorithm for the perinatal management of this congenital abnormality.
Topics: Algorithms; Congenital Abnormalities; Female; Fetal Growth Retardation; Gestational Age; Humans; Infant; Infant, Newborn; Portal Vein; Pregnancy; Ultrasonography, Prenatal; Vascular Malformations
PubMed: 28372492
DOI: 10.1080/14767058.2017.1315093 -
Pediatric Neurology Jul 2017We summarize the evidence for an association between congenital heart defects and prenatal brain growth through a systematic literature review. Congenital heart... (Review)
Review
BACKGROUND
We summarize the evidence for an association between congenital heart defects and prenatal brain growth through a systematic literature review. Congenital heart defects are among the most common malformations, affecting approximately six per 1000 live births. The association between congenital heart defects and long-term neurodevelopmental disorders is well established. Increasing evidence suggests an association between impaired prenatal brain growth and neurodevelopmental disorders in children with congenital heart defects.
METHODS
Systematic literature searches were performed in PubMed and EMBASE. We included original studies comparing fetuses or newborns with congenital heart defects to reference fetuses or newborns with respect to brain biometrics, including biparietal diameter, brain volume, and head circumference at birth. The study characteristics and the results were extracted and presented in tables. No meta-analysis was undertaken.
RESULTS
Twenty-eight studies were included. All except two studies found an association between congenital heart defects and measures of reduced prenatal brain growth. The strongest evidence concerned hypoplastic left heart syndrome, tetralogy of Fallot, and transposition of the great arteries.
CONCLUSIONS
The literature suggests an association between congenital heart defects and measures of impaired prenatal brain growth. However, most studies were small and failed to include important potential confounding factors and to address other sources of potential bias as well. Future large-scale studies that address potential confounders are warranted.
Topics: Brain; Female; Fetal Development; Heart Defects, Congenital; Humans; Pregnancy; Ultrasonography, Prenatal
PubMed: 28549654
DOI: 10.1016/j.pediatrneurol.2017.03.014