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The Cleft Palate-craniofacial Journal :... Aug 2023Studies evaluating the ability to diagnose and accurately predict the severity of micrognathia prenatally have yielded inconsistent results. This review aimed to...
OBJECTIVE
Studies evaluating the ability to diagnose and accurately predict the severity of micrognathia prenatally have yielded inconsistent results. This review aimed to evaluate reliability of prenatal diagnostic imaging in the diagnosis and characterization of micrognathia.
DESIGN
Systematic review and meta-analysis.
SETTING
Studies with a prenatal diagnosis of micrognathia via ultrasound with a confirmatory postnatal examination were included. Prenatal severity was defined with and without mandibular measurements. Extent of airway obstruction at birth was defined by level of intervention required. Meta-analyses of proportions and relative risk were performed.
PATIENTS
A total of 16 studies with 2753 neonates were included.
MAIN OUTCOME MEASURES
Primary outcome was the efficacy of characterizing the degree of micrognathia on prenatal imaging as it relates to respiratory obstruction at birth. Secondary outcome was the accuracy of prenatal diagnosis with the utilization of mandibular measurements versus without.
RESULTS
Performing meta-analysis of proportions, the proportion of missed prenatal diagnoses of micrognathia made without mandibular measurements was 11.62% (95%CI 2.58-25.94). Utilizing mandibular measurements, the proportion of cases missed were statistically lower (0.20% [95%CI 0.00-0.70]). Patients determined to have severe micrognathia by prenatal imaging did not have a statistically significant increase in risk for more severe respiratory obstruction at birth (RR 3.13 [95%CI 0.59-16.55], = .180).
CONCLUSION
The proportion micrognathia cases missed when prenatal diagnosis was made without mandibular measurements was over 1 in 10, with mandibular measures improving accuracy. This study highlights the need for a uniform objective criterion to improve prenatal diagnosis and planning for postnatal care.
PubMed: 37525884
DOI: 10.1177/10556656231190525 -
Prenatal Diagnosis Jul 2016Prenatal diagnosis of fetal anomalies may arouse fear, anxiety and distress in parents, and counselling may assist parents to cope with the diagnosis. This systematic... (Review)
Review
OBJECTIVE
Prenatal diagnosis of fetal anomalies may arouse fear, anxiety and distress in parents, and counselling may assist parents to cope with the diagnosis. This systematic review aimed to (1) synthesise the evidence on the impact of non-genetic, prenatal counselling after fetal diagnosis of a congenital anomaly on parental knowledge and psychological adjustment and (2) identify parents' preferences for the timing and format of counselling.
METHOD
Five electronic databases were systematically searched to identify studies assessing prenatal counselling provided to parents after prenatal diagnosis of one or more structural congenital anomalies. Data were extracted using predefined data forms, according to the preferred reporting items for systematic reviews and meta-analyses guidelines, and synthesised.
RESULT
Twenty four articles were included for review; most articles reported results of retrospective surveys and the quality of included studies was variable. Only three studies assessed parental anxiety, and each reported a significant decrease in anxiety following prenatal counselling. Parents expressed a preference for counselling on all aspects of their baby's anomaly as soon as possible after prenatal diagnosis, and desired written, visual and web-based information resources, and support group contacts.
CONCLUSION
Although prenatal counselling reduced parental anxiety, further research is needed to adequately assess the impact of prenatal counselling on other psychological outcomes. © 2016 John Wiley & Sons, Ltd.
Topics: Adaptation, Psychological; Anxiety; Congenital Abnormalities; Counseling; Female; Humans; Parents; Pregnancy; Prenatal Care; Prenatal Diagnosis
PubMed: 27150825
DOI: 10.1002/pd.4836 -
Fetal Diagnosis and Therapy 2021Abnormalities of corpus callosum are one of the most common brain anomalies. Fetuses with isolated corpus callosum agenesis (CCA) have a better prognosis than those with... (Review)
Review
Abnormalities of corpus callosum are one of the most common brain anomalies. Fetuses with isolated corpus callosum agenesis (CCA) have a better prognosis than those with additional anomalies. However, unpredictable neurodevelopmental outcomes of truly isolated CCA make prenatal counseling a challenge. The aim of this review is to evaluate neurodevelopmental outcomes in children with prenatal diagnosis of isolated CCA. Controlled clinical trials published between May 23, 2009, and May 23, 2019, using the MeSH term "agenesis of corpus callosum" were reviewed. A total of 942 articles were identified, and 8 studies were included in the systematic review depending on the inclusion criteria. These studies included 217 fetuses with isolated CCA and no other anomalies at prenatal assessment. Neurodevelopmental outcome was reported to be normal in 83 children with a prenatal diagnosis of isolated CCA confirmed at birth within 128 completed assessments. About 45 children presented borderline, moderate, or severe neurodevelopmental outcome. In this review, neurodevelopment was favorable in two-thirds of the cases, but mild disabilities emerged in older children. Despite this, disabilities can occur later beyond school age and a low risk of severe cognitive impairment exists. Our study highlights the essential early diagnosis and proper supportive therapy.
Topics: Agenesis of Corpus Callosum; Child; Corpus Callosum; Female; Humans; Infant, Newborn; Magnetic Resonance Imaging; Neurodevelopmental Disorders; Pregnancy; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 33517337
DOI: 10.1159/000512534 -
Genetics and Molecular Research : GMR Oct 2014The accuracy of prenatal diagnosis for abnormal chromosome diseases by chromosome microarray technology and karyotyping were compared. A literature search was carried... (Review)
Review
The accuracy of prenatal diagnosis for abnormal chromosome diseases by chromosome microarray technology and karyotyping were compared. A literature search was carried out in the MEDLINE database with the keywords "chromosome" and "karyotype" and "genetic testing" and "prenatal diagnosis" and "oligonucleotide array sequence". The studies obtained were filtered by using the QUADAS tool, and studies conforming to the quality standard were fully analyzed. There was one paper conforming to the QUADAS standards including 4406 gravidas with adaptability syndromes of prenatal diagnosis including elderly parturient women, abnormal structure by type-B ultrasound, and other abnormalities. Microarray technology yielded successful diagnoses in 4340 cases (98.8%), and there was no need for tissue culture in 87.9% of the samples. All aneuploids and non-parallel translocations in 4282 cases of non-chimera identified by karyotyping could be detected using microarray analysis technology, whereas parallel translocations and fetal triploids could not be detected by microarray analysis technology. In the samples with normal karyotyping results, type-B ultrasound showed that 6% of chromosomal deficiencies or chromosome duplications could be detected by microarray technology, and the same abnormal chromosomes were detected in 1.7% of elderly parturient women and samples with positive serology screening results. In the prenatal diagnosis test, compared with karyotyping, microarray technology could identify the extra cell genetic information with clinical significance, aneuploids, and non-parallel translocations; however, its disadvantage is that it could not identify parallel translocations and triploids.
Topics: Chromosome Disorders; Female; Fetal Diseases; Humans; Karyotyping; Microarray Analysis; Pregnancy; Prenatal Diagnosis; Reproducibility of Results; Sensitivity and Specificity
PubMed: 25366803
DOI: 10.4238/2014.October.31.27 -
Ultrasound in Obstetrics & Gynecology :... Jul 2018The aims of this study were to review systematically literature on and describe the sonographic features and associated anomalies of total (TAPVC) and partial (PAPVC)... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
The aims of this study were to review systematically literature on and describe the sonographic features and associated anomalies of total (TAPVC) and partial (PAPVC) anomalous pulmonary venous connection and scimitar syndrome (SS).
METHODS
A retrospective cohort study was carried out of cases of TAPVC, PAPVC and SS that underwent comprehensive ultrasound examination, seen over a 20-year period at two tertiary referral centers. Assessed variables included TAPVC subtype, gestational age at diagnosis, area behind the left atrium, ventricular disproportion, vertical vein, pulmonary venous obstruction, mode of diagnosis, association with cardiac and extracardiac conditions, and pregnancy and fetoneonatal outcomes. The outcome was considered favorable if the individual was alive and well (no functional impairment from surgery or cardiac or extracardiac conditions). Cases associated with right isomerism were excluded from the analysis, as TAPVC in these cases was only one of several major cardiac anomalies affecting sonographic signs. A systematic review was performed in order to obtain a synthesis of characteristics associated with TAPVC, PAPVC and SS. The literature search of PubMed and EMBASE (1970-2016) included reviews, case series and case reports. A meta-analysis was conducted only for TAPVC. Random-effects models were used to obtain pooled estimates of the frequencies of clinical characteristics and sonographic features.
RESULTS
For TAPVC, a total of 15 studies involving 71 patients (including 13 from the current cohort study) were included in the systematic review and meta-analysis. The pooled estimate for the association of TAPVC with congenital heart disease was 28.3% (95% CI, 18.1-41.3%) and with extracardiac anomalies it was 18.5% (95% CI, 10.5-30.6%). Of TAPVC cases, obstructed venous return was observed in 34.1% (95% CI, 22.7-47.7%), a favorable outcome in 43.8% (95% CI, 24.0-65.8%), ventricular disproportion in 59.2% (95% CI, 45.1-72.0%), increased area behind the left atrium in 58.1% (95% CI, 41.1-73.5%) and a vertical vein in 59.3% (95% CI, 41.1-75.3%). Diagnosis was established by using color or power Doppler in 84.9% (95% CI, 67.3-93.9%) of cases. For SS, there were only three studies describing eight cases, to which the current study added another five. Ventricular disproportion was present in three out of nine SS cases for which data were available, but for two of these, there was a concurrent heart anomaly. Color Doppler was used for all SS diagnoses, and four-dimensional echocardiography was useful in two out of six cases in which it was used. Outcome for SS cases was generally good. For PAPVC, there were only five studies describing five cases, to which the current study added another two. Major cardiac anomalies were associated in four out of seven of these cases, and extracardiac anomalies in three out of six cases for which data were available.
CONCLUSIONS
TAPVC can be associated with other cardiac and extracardiac anomalies in a significant percentage of cases. Leading sonographic signs are ventricular disproportion, increased area behind the left atrium and the finding of a vertical vein. Color/power Doppler is the key mode for diagnosis of TAPVC. Obstructed venous return can be expected in roughly one-third of cases of TAPVC and outcome is favorable in less than half of cases. Data for SS and PAPVC are too few to synthesize. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.
Topics: Echocardiography, Doppler, Color; Female; Gestational Age; Heart Defects, Congenital; Humans; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis; Pulmonary Veins; Retrospective Studies; Scimitar Syndrome
PubMed: 28926132
DOI: 10.1002/uog.18907 -
Acta Diabetologica Jun 2018Although diabetes is rapidly increasing in India, there is no national consensus on best practices for screening, diagnosis, and management of gestational diabetes... (Meta-Analysis)
Meta-Analysis Review
AIMS
Although diabetes is rapidly increasing in India, there is no national consensus on best practices for screening, diagnosis, and management of gestational diabetes mellitus (GDM). The goal of this study was to systematically review the literature for studies reporting the prevalence and screening and diagnostic methods for gestational diabetes in India.
METHODS
We searched MEDLINE, Embase, and POPLINE for studies on screening for GDM in India. We included English-language full reports and conference abstracts of cross-sectional studies, prospective, and retrospective cohorts that reported the screening method and prevalence of GDM. We performed descriptive analysis on all studies and meta-analysis, meta-regression, and subgroup meta-analysis on studies with medium or low risk of bias.
RESULTS
We included 64 studies reporting 90 prevalence estimates. Prevalence estimates ranged from 0 to 41.9%. Subset meta-analyses showed that the IADPSG diagnostic criteria found significantly more GDM cases (prevalence = 19.19% [15.5, 23.6], p < 0.05) than the WHO 1999 criteria (10.13% [8.17, 12.50]) and DIPSI criteria (7.37% [5.2, 10.16]). Studies that compared the IADPSG and WHO 1999 criteria showed poor positive agreement (33-79%). Studies specifying time of GDM diagnosis showed that patients (11-60%) develop GDM as early as the first trimester, but many GDM cases (16-40%) are missed if screened only at first visit.
CONCLUSIONS
In India, prevalence estimates of GDM vary substantially by diagnostic criteria. When evaluating screening and diagnostic criteria for GDM, providers should consider their patients' needs and correlate screening criteria with pregnancy outcomes.
Topics: Adult; Diabetes, Gestational; Female; Glucose Tolerance Test; Humans; India; Mass Screening; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis; Prevalence
PubMed: 29582160
DOI: 10.1007/s00592-018-1131-1 -
Clinica Chimica Acta; International... Mar 2022Fetalhyperechogenickidneys (HEK)are associated with a wide range of etiologies and prognoses. Prenatal counselling and management can be extremely challenging,...
BACKGROUND
Fetalhyperechogenickidneys (HEK)are associated with a wide range of etiologies and prognoses. Prenatal counselling and management can be extremely challenging, especially for isolated HEK.
METHODS
A total of 28 pregnancies were screened by ultrasonography with HEK from March 1, 2016 to December 31, 2020. Genetic testings for aneuploidy and copy number variations (CNVs) are routine during the investigation for etiologies of fetal HEK in our unit. Trio-whole exome sequencing(WES) was offered to the family when karyotyping and microarray were not diagnostic.A systematic review (SR) was conducted to use the authoritative literature retrieval databases describing genetic testings' results in prenatal HEK cases.
RESULTS
In the 28 HEK fetuses, 2 (7.14%) cases were identified with chromosome abnormalities and 6 (21.43%) cases were detected with pathogenic CNVs. Through trio-WES analysis, pathogenic or likely pathogenic variations were detected in the following genes: PKD1, BBS2, BBS9, HNF1B, PKHD1 and ETFA in another 10 (35.71%) fetuses. And the remaining 10 (35.71%) cases were undiagnosed. The pooled data from all reviewed studies indicate that HNF1B gene heterozygous deletion or mutation are the most common genetic causes associated with HEK.
CONCLUSION
This is the first study to accurately describe the genotype ratio at different levels of genetic testing associated with fetal HEK. Our study has suggested that trio-WES could improve the detection rate and efficiency ofidentification genetic pathologies in fetuseswith isolated HEK. The WES results provide new evidences to guide prenatal counseling and management.
Topics: DNA Copy Number Variations; Female; Fetus; Humans; Kidney; Kidney Diseases; Pregnancy; Prenatal Diagnosis
PubMed: 35065907
DOI: 10.1016/j.cca.2022.01.012 -
Endocrine Development 2015Constitutional disorders of bone, commonly termed skeletal dysplasias (SDs), are inherited disorders of cartilage and/or bone that affect their growth, morphometry and... (Review)
Review
Constitutional disorders of bone, commonly termed skeletal dysplasias (SDs), are inherited disorders of cartilage and/or bone that affect their growth, morphometry and integrity. Associated skeletal abnormalities are usually but not invariably symmetrical. They may be classified as osteochondrodysplasias, which are conditions associated with abnormalities of the growth (dysplasias) or texture (osteodystrophy) of bone and/or cartilage, or dysostoses, which are conditions secondary to abnormal blastogenesis (occurring at or around the 6th week of in utero life). Skeletal involvement may also occur in other multisystem hereditary and acquired syndromes. The 2010 Nosology and Classification of Genetic Skeletal Disorders listed 456 conditions, of which approximately 50 are perinatally lethal, and 316 are associated with one or more of 226 genes. When an SD is suspected, a standard series of radiographs, collectively known as a skeletal survey, should be performed. The diagnosis of individual conditions is highly dependent on radiographic pattern recognition, which is achieved through a systematic review of the images and enhanced by discussion with colleagues and through the use of available tools, such as atlases and digital databases. This article summarises a systematic approach to the diagnosis of SDs, demonstrated using examples of some of the more common lethal and non-lethal conditions.
Topics: Bone Diseases, Developmental; Bone and Bones; Cartilage; Dysostoses; Humans; Osteochondrodysplasias; Ultrasonography, Prenatal
PubMed: 26138847
DOI: 10.1159/000381051 -
American Journal of Obstetrics and... Dec 2016Determining the depth of villous invasiveness before delivery is pivotal in planning individual management of placenta accreta. We have evaluated the value of various... (Review)
Review
BACKGROUND
Determining the depth of villous invasiveness before delivery is pivotal in planning individual management of placenta accreta. We have evaluated the value of various ultrasound signs proposed in the international literature for the prenatal diagnosis of accreta placentation and assessment of the depth of villous invasiveness.
OBJECTIVE
We undertook a PubMed and MEDLINE search of the relevant studies published from the first prenatal ultrasound description of placenta accreta in 1982 through March 30, 2016, using key words "placenta accreta," "placenta increta," "placenta percreta," "abnormally invasive placenta," "morbidly adherent placenta," and "placenta adhesive disorder" as related to "sonography," "ultrasound diagnosis," "prenatal diagnosis," "gray-scale imaging," "3-dimensional ultrasound", and "color Doppler imaging."
STUDY DESIGN
The primary eligibility criteria were articles that correlated prenatal ultrasound imaging with pregnancy outcome. A total of 84 studies, including 31 case reports describing 38 cases of placenta accreta and 53 series describing 1078 cases were analyzed. Placenta accreta was subdivided into placenta creta to describe superficially adherent placentation and placenta increta and placenta percreta to describe invasive placentation.
RESULTS
Of the 53 study series, 23 did not provide data on the depth of villous myometrial invasion on ultrasound imaging or at delivery. Detailed correlations between ultrasound findings and placenta accreta grading were found in 72 cases. A loss of clear zone (62.1%) and the presence of bridging vessels (71.4%) were the most common ultrasound signs in cases of placenta creta. In placenta increta, a loss of clear zone (84.6%) and subplacental hypervascularity (60%) were the most common ultrasound signs, whereas placental lacunae (82.4%) and subplacental hypervascularity (54.5%) were the most common ultrasound signs in placenta percreta. No ultrasound sign or a combination of ultrasound signs were specific of the depth of accreta placentation.
CONCLUSION
The wide heterogeneity in terminology used to describe the grades of accreta placentation and differences in study design limits the evaluation of the accuracy of ultrasound imaging in the screening and diagnosis of placenta accreta. This review emphasizes the need for further prospective studies using a standardized evidence-based approach including a systematic correlation between ultrasound signs of placenta accreta and detailed clinical and pathologic examinations at delivery.
Topics: Delivery, Obstetric; Female; Humans; Imaging, Three-Dimensional; Myometrium; Placenta Accreta; Pregnancy; Severity of Illness Index; Ultrasonography, Doppler, Color; Ultrasonography, Prenatal
PubMed: 27473003
DOI: 10.1016/j.ajog.2016.07.044 -
Does prenatal diagnosis of hypoplastic left heart syndrome make a difference? - A systematic review.Prenatal Diagnosis Sep 2016Hypoplastic left heart syndrome is frequently diagnosed prenatally with variable benefit. We performed a systematic review to evaluate the impact of fetal diagnosis; the... (Review)
Review
OBJECTIVE
Hypoplastic left heart syndrome is frequently diagnosed prenatally with variable benefit. We performed a systematic review to evaluate the impact of fetal diagnosis; the primary objective was to evaluate impact on mortality.
METHODS
Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines were followed. Seven databases were searched. Meta-analysis was performed using a random effects model to evaluate the effect of fetal diagnosis on mortality.
RESULTS
Literature search revealed 2124 titles and abstracts for screening; 21 full texts were reviewed. Six studies and one abstract were included. Preoperative mortality in 609 neonates (228 prenatal and 381 postnatal) was evaluated. There were 11 deaths in prenatally diagnosed neonates versus 16 deaths in postnatally diagnosed neonates (OR 0.67, 95% CI 0.22-2.01, p = 0.48). Neonates with fetal diagnosis had less preoperative acidosis (mean difference 0.07, 95% CI 0.05, 0.1, p < 0.01) and required less inotropic support (OR 0.16, 95% CI 0.04, 0.7, p = 0.01). Post Stage I, there were 47 deaths in 227 prenatally diagnosed neonates versus 78 deaths in 299 postnatally diagnosed neonates (OR 0.84, 95% CI 0.43, 1.62, p = 0.59).
CONCLUSIONS
There is no significant impact of prenatal diagnosis of hypoplastic left heart syndrome on preoperative or post Stage I mortality. Neonates with prenatal diagnosis were hemodynamically more stable. © 2016 John Wiley & Sons, Ltd.
Topics: Humans; Hypoplastic Left Heart Syndrome; Prenatal Diagnosis
PubMed: 27416335
DOI: 10.1002/pd.4873