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Public Health Apr 2004To review studies addressing the question of whether there are social inequalities in either the offer or the uptake of prenatal testing in the UK. (Review)
Review
OBJECTIVE
To review studies addressing the question of whether there are social inequalities in either the offer or the uptake of prenatal testing in the UK.
METHOD
Systematic review of studies assessing the offer or uptake of prenatal screening or diagnosis according to social class or ethnic origin. Electronic databases were searched using a strategy developed for a review of inequalities in access to maternity care supplemented with terms specific to prenatal testing. Further papers were identified from reference lists, citation searches and key organizations.
RESULTS
From over 600 identified papers, 41 were potentially relevant. Twenty met the inclusion criteria. The studies included covered screening and/or diagnosis for Down's syndrome, neural tube defects, haemoglobin disorders and HIV. Many studies were limited by small numbers or poor reporting of data and analysis. Six studies reported data on prenatal testing according to women's social class or educational level. None found any significant social inequalities in testing. Some studies suggested that women of South Asian origin might be up to 70% less likely to receive prenatal testing for haemoglobin disorders and Down's syndrome than White women. A small number of studies suggested that South Asian women might be less likely to be offered testing.
CONCLUSIONS
This review provides some evidence of ethnic inequalities in access to prenatal testing. Further research is required to improve our understanding of why testing may not be offered, the reasons for failure to take up testing when offered, and to identify whether there are other social inequalities in access to prenatal testing.
Topics: Down Syndrome; Ethnicity; Female; HIV Infections; Health Services Research; Hemoglobinopathies; Humans; Mass Screening; Neural Tube Defects; Pregnancy; Pregnancy Complications; Prenatal Care; Prenatal Diagnosis; Social Justice; United Kingdom
PubMed: 15003407
DOI: 10.1016/j.puhe.2003.08.004 -
Ultrasound in Obstetrics & Gynecology :... Dec 2016To quantify the prevalence of chromosomal anomalies in fetuses with persistent left superior vena cava (PLSVC), assess the strength of the association between PLSVC and... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
To quantify the prevalence of chromosomal anomalies in fetuses with persistent left superior vena cava (PLSVC), assess the strength of the association between PLSVC and coarctation of the aorta and ascertain the diagnostic accuracy of antenatal ultrasound in correctly identifying isolated cases of PLSVC.
METHODS
MEDLINE, EMBASE, CINHAL and the Cochrane databases were searched from the year 2000 onwards using combinations of keywords 'left superior vena cava' and 'outcome'. Two authors reviewed all abstracts independently. Quality assessment of the included studies was performed using the Newcastle-Ottawa Scale for cohort studies. The rates of the following outcomes were analyzed: chromosomal abnormalities; associated intracardiac anomalies (ICAs) and extracardiac anomalies (ECAs) diagnosed prenatally; additional ICAs and ECAs detected only at postnatal imaging or clinical evaluation but missed at prenatal imaging; and association of PLSVC and coarctation of the aorta. Meta-analyses of proportions were used to combine data.
RESULTS
In total, 2708 articles were identified and 13 (n = 501) were included in the systematic review. Associated ICAs and ECAs were detected at the prenatal ultrasound examination or at a follow-up assessment in 60.7% (95% CI, 44.2-75.9%) and 37.8% (95% CI, 31.0-44.8%) of cases, respectively. Chromosomal anomalies occurred in 12.5% (95% CI, 9.0-16.4%) of cases in the overall population of fetuses with PLSVC and in 7.0% (95% CI, 2.7-13.0%) of isolated cases. Additional ICAs and ECAs were detected only after birth and missed at ultrasound in 2.4% (95% CI, 0.5-5.8%) and 6.7% (95% CI, 2.2-13.2%) of cases, respectively. Coarctation of the aorta was associated with isolated PLSVC in 21.3% (95% CI, 13.6-30.3%) of cases.
CONCLUSIONS
PLSVC is commonly associated with ICAs, ECAs and chromosomal anomalies. Fetuses with isolated PLSVC should be followed up throughout pregnancy in order to rule out coarctation of the aorta. As most of the data in this review were derived from high-risk pregnancies, the rate of associated abnormalities is likely to be higher than that in the general population of fetuses with PLSVC, for which more data are needed. Revisión sistemática y metaanálisis de la persistencia de la vena cava superior izquierda en la ecografía prenatal: anomalías asociadas, precisión del diagnóstico y resultado postnatal RESUMEN OBJETIVOS: Cuantificar la prevalencia de anomalías cromosómicas en fetos con vena cava superior izquierda persistente (VCSIP), evaluar la solidez de la asociación entre la VCSIP y la coartación aórtica, y determinar la precisión del diagnóstico de la ecografía prenatal como método para identificar correctamente casos aislados de VCSIP. MÉTODOS: Se buscó en las bases de datos de MEDLINE, EMBASE, CINHAL y Cochrane artículos publicados desde el año 2000 en adelante, usando combinaciones de las palabras clave "vena cava superior izquierda" y "resultado". Dos de los autores revisaron de forma independiente todos los resúmenes encontrados. La evaluación de calidad de los estudios incluidos se realizó mediante la escala Newcastle-Ottawa para estudios de cohortes. Se analizaron las tasas de los siguientes resultados: anomalías cromosómicas; anomalías intracardíacas (AIC) y anomalías extracardíacas (AEC) asociadas diagnosticadas prenatalmente; AIC y AEC adicionales detectadas sólo en ecografías postnatales o mediante evaluación clínica, pero no observadas en ecografías prenatales; y la asociación entre la VCSIP y la coartación aórtica. Se utilizó un meta-análisis de proporciones para combinar los datos.
RESULTADOS
En total, se identificaron 2708 artículos y se incluyeron 13 (n = 501) en la revisión sistemática. En la ecografía prenatal o en una revisión de seguimiento se detectaron AIC y AEC asociadas en el 60,7% (IC 95%, 44,2-75,9%) y el 37,8% (IC 95%, 31,0-44,8%) de los casos, respectivamente. Se produjeron anomalías cromosómicas en el 12,5% (IC 95%, 9,0-16,4%) de los casos en la población general de fetos con VCSIP y en el 7,0% (IC 95%, 2,7-13,0%) de casos aislados. Las AIC y AEC adicionales sólo se detectaron después del nacimiento y en el 6,7% (IC 95%, 2,2-13,2%) de los casos, respectivamente. La coartación aórtica se encontró asociada con la VCSIP aislada en un 21,3% (IC 95%, 13,6-30,3%) de los casos.
CONCLUSIONES
La VCSIP está comúnmente asociada a AIC, AEC y anomalías cromosómicas. Los fetos con VCSIP aislada deben ser objeto de seguimiento durante todo el embarazo, con el fin de descartar la coartación aórtica. Como la mayoría de los datos de esta revisión proceden de embarazos de alto riesgo, es probable que la tasa de anomalías asociadas sea más alta que la de la población general de fetos con VCSIP, por lo que se necesitan más datos.
Topics: Aortic Coarctation; Chromosome Aberrations; Cohort Studies; Female; Humans; Pregnancy; Pregnancy Outcome; Sensitivity and Specificity; Ultrasonography, Prenatal; Vascular Malformations; Vena Cava, Superior
PubMed: 26970258
DOI: 10.1002/uog.15914 -
Prenatal Diagnosis Sep 2017To systematically review clinical validation studies of massive parallel sequencing (MPS) technology in prenatal screening for trisomy 21 and to explore the potential... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
To systematically review clinical validation studies of massive parallel sequencing (MPS) technology in prenatal screening for trisomy 21 and to explore the potential implementation strategies in China compared with those in developing countries.
METHODS
Searches of the Cochrane Library, Medline, EMBASE, Web of Science, Biosis Previews, and three major Chinese databases were performed to identify all the peer-reviewed articles published between 1 January 2011 and 15 October 2016. We also reviewed and discussed the potential challenges and risks in the future promotion of MPS technology in China compared with those in developing countries.
RESULTS
The weighted pooled sensitivity and specificity of MPS technology for the prenatal detection of trisomy 21 were 99.7% (95% CI 98.3-99.9%) and 100.0% (95% CI 99.9-100.0%), respectively, based on a meta-analysis of 44 included studies. An additional meta-analysis was conducted based on the 25 included studies that were performed in medical/genetic sequencing institutions in mainland China, showing a weighted pooled sensitivity and specificity of MPS technology as 99.5% (95% CI 98.7-99.8%) and 100% (95% CI 99.9-100%), respectively.
CONCLUSION
MPS technology offers effective screening performance for trisomy 21 but should be cautiously promoted due to its clinical limitations and challenges that stem from the ethics and business aspects. © 2017 John Wiley & Sons, Ltd.
Topics: China; DNA; Down Syndrome; Female; High-Throughput Nucleotide Sequencing; Humans; Peer Review; Pregnancy; Prenatal Diagnosis; Sensitivity and Specificity; Sequence Analysis, DNA
PubMed: 28686807
DOI: 10.1002/pd.5111 -
Ultrasound in Obstetrics & Gynecology :... Apr 2024To determine the diagnostic accuracy of prenatal ultrasound in detecting coarctation of the aorta (CoA). (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To determine the diagnostic accuracy of prenatal ultrasound in detecting coarctation of the aorta (CoA).
METHODS
An individual participant data meta-analysis was performed to report on the strength of association and diagnostic accuracy of different ultrasound signs in detecting CoA prenatally. MEDLINE, EMBASE and CINAHL were searched for studies published between January 2000 and November 2021. Inclusion criteria were fetuses with suspected isolated CoA, defined as ventricular and/or great vessel disproportion with right dominance on ultrasound assessment. Individual participant-level data were obtained by two leading teams. PRISMA-IPD and PRISMA-DTA guidelines were used for extracting data, and the QUADAS-2 tool was used for assessing quality and applicability. The reference standard was CoA, defined as narrowing of the aortic arch, diagnosed after birth. The most commonly evaluated parameters on ultrasound, both in B-mode and on Doppler, constituted the index test. Summary estimates of sensitivity, specificity, diagnostic odds ratio (DOR) and likelihood ratios were computed using the hierarchical summary receiver-operating-characteristics model.
RESULTS
The initial search yielded 72 studies, of which 25 met the inclusion criteria. Seventeen studies (640 fetuses) were included. On random-effects logistic regression analysis, tricuspid valve/mitral valve diameter ratio > 1.4 and > 1.6, aortic isthmus/arterial duct diameter ratio < 0.7, hypoplastic aortic arch (all P < 0.001), aortic isthmus diameter Z-score of < -2 in the sagittal (P = 0.003) and three-vessel-and-trachea (P < 0.001) views, pulmonary artery/ascending aorta diameter ratio > 1.4 (P = 0.048) and bidirectional flow at the foramen ovale (P = 0.012) were independently associated with CoA. Redundant foramen ovale was inversely associated with CoA (P = 0.037). Regarding diagnostic accuracy, tricuspid valve/mitral valve diameter ratio > 1.4 had a sensitivity of 72.6% (95% CI, 48.2-88.3%), specificity of 65.4% (95% CI, 46.9-80.2%) and DOR of 5.02 (95% CI, 1.82-13.9). The sensitivity and specificity values were, respectively, 75.0% (95% CI, 61.1-86.0%) and 39.7% (95% CI, 27.0-53.4%) for pulmonary artery/ascending aorta diameter ratio > 1.4, 47.8% (95% CI, 14.6-83.0%) and 87.6% (95% CI, 27.3-99.3%) for aortic isthmus diameter Z-score of < -2 in the sagittal view and 74.1% (95% CI, 58.0-85.6%) and 62.0% (95% CI, 41.6-78.9%) for aortic isthmus diameter Z-score of < -2 in the three-vessel-and-trachea view. Hypoplastic aortic arch had a sensitivity of 70.0% (95% CI, 42.0-88.6%), specificity of 91.3% (95% CI, 78.6-96.8%) and DOR of 24.9 (95% CI, 6.18-100). The diagnostic yield of prenatal ultrasound in detecting CoA did not change significantly when considering multiple categorical parameters. Five of the 11 evaluated continuous parameters were independently associated with CoA (all P < 0.001) but all had low-to-moderate diagnostic yield.
CONCLUSIONS
Several prenatal ultrasound parameters are associated with an increased risk for postnatal CoA. However, diagnostic accuracy is only moderate, even when combinations of parameters are considered. © 2024 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Pregnancy; Female; Humans; Aortic Coarctation; Ultrasonography, Prenatal; Aorta; Aorta, Thoracic; Ductus Arteriosus; Retrospective Studies
PubMed: 38197327
DOI: 10.1002/uog.27576 -
Neurosurgical Focus Oct 2019Comparing prenatal and postnatal surgical repair techniques for myelomeningocele (MMC), in utero fetal surgery has increasingly gained acceptance and is considered by...
OBJECTIVE
Comparing prenatal and postnatal surgical repair techniques for myelomeningocele (MMC), in utero fetal surgery has increasingly gained acceptance and is considered by many specialized centers the first choice of treatment. Despite its benefits, as demonstrated in the Management of Myelomeningocele Study (MOMS), including reduced need for CSF shunting in neonates and improved motor outcomes at 30 months, there is still an ongoing debate on fetal and maternal risks associated with the procedure. Prenatal open hysterotomy, fetoscopic MMC repair techniques, and subsequent delivery by cesarean section are associated with maternal complications. The aim of this systematic review is to assess the available literature on maternal and obstetric complication rates and perinatal maternal outcomes related to fetal MMC repair.
METHODS
The authors identified references for inclusion in this review by searching PubMed and MEDLINE, with restrictions to English language, case series, case reports, clinical trials, controlled clinical trials, meta-analyses, randomized controlled trials, reviews, and systematic reviews. The rate of maternal and obstetric complications was analyzed based on studies focusing on this issue and presenting clear results on the matter.
RESULTS
Of 1264 articles screened, 36 were included in this systemic review, whereof 11 were eligible for data analysis and comparison. The average overall rate of maternal and obstetric complications corresponds to 78.6%. The majority of the described events are obstetric complications, varying from chorioamniotic membrane separation in 65.6% of cases, oligohydramnios in 13.0% of cases, placental abruption in 5.0% of cases, spontaneous or preterm premature membrane rupture in 42.0% of cases, and early preterm delivery in 11.3% of cases due to uterine dehiscence, occurring in 0.9% of cases. The most common medical complications are development of pulmonary edema occurring in 2.8%, gestational diabetes in 3.7%, gestational hypertension/preeclampsia in 3.7%, and need for blood transfusions in 3.2% of cases. Limitations of the review arise from the lack of data in the current literature, with maternal and obstetric complications being underreported.
CONCLUSIONS
Although the efforts of further advancement of intrauterine prenatal MMC repair aim to increase neonatal outcomes, maternal health hazard will continue to be an issue of crucial importance and further studies are required.
Topics: Adult; Cesarean Section; Female; Fetal Membranes, Premature Rupture; Fetoscopy; Humans; Infant, Newborn; Meningomyelocele; Neurosurgical Procedures; Pregnancy; Premature Birth
PubMed: 31574465
DOI: 10.3171/2019.7.FOCUS19470 -
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 -
Archives of Gynecology and Obstetrics Oct 2010The aim of the study was to produce a systematic review about etiology, pathology, diagnosis, prognosis and clinical management regarding oral and cervical teratomas. (Review)
Review
INTRODUCTION
The aim of the study was to produce a systematic review about etiology, pathology, diagnosis, prognosis and clinical management regarding oral and cervical teratomas.
MATERIALS AND METHODS
A systematic review of Pubmed/Medline using the following keywords was made: epignathus, cervical teratoma, fetus, oral teratoma, prenatal diagnosis, prognosis, treatment, ultrasound.
CONCLUSION
The following clinical conclusions can be reached: (1) teratomas are rare, usually benign congenital tumors which recognized multifactorial etiology; (2) prenatal ultrasound diagnosis can be made early in pregnancy (15-16 weeks); (3) 3D ultrasound and MRI may enhance the accuracy of the antenatal diagnosis (location, extension and intracranial spread) and may aid in the selection of patients requiring treatment; (4) prenatal karyotype and search for associated abnormalities is mandatory in all teratomas; (5) delivery should involve elective Cesarean section with ex utero intrapartum treatment procedure or resection of the tumor mass, which may be performed on placental support operation on placental support procedure to increase the chances of postnatal survival.
Topics: Airway Obstruction; Cesarean Section; Female; Fetus; Head and Neck Neoplasms; Humans; Karyotyping; Magnetic Resonance Imaging; Mouth Neoplasms; Pregnancy; Prognosis; Teratoma; Ultrasonography, Prenatal; United States
PubMed: 20473617
DOI: 10.1007/s00404-010-1500-7 -
Scientific Reports Jan 2016As the chromosomal examination of foetal cells for the prenatal diagnosis of Down's syndrome (DS) carries a risk of inducing miscarriage, serum screening tests are... (Meta-Analysis)
Meta-Analysis Review
As the chromosomal examination of foetal cells for the prenatal diagnosis of Down's syndrome (DS) carries a risk of inducing miscarriage, serum screening tests are commonly used before invasive procedures. In this study, a total of 374 records from PubMed, EMBASE, and the ISI Science Citation Index databases were reviewed. As a result of duplication, insufficient data, and inappropriate article types, 18 independent articles containing 183,998 samples were used in the final systematic review and meta-analysis of the diagnostic performance of the serum triple screening test (STS) and the integrated screening test (INS). Data extracted from the selected studies were statistically analysed, and the presence of heterogeneity and publication bias was assessed using specific software. The overall sensitivity, specificity, positive likelihood ratio, negative likelihood ratio, diagnostic odds ratio, and the area under the curve for the STS were 0.77 (95% confidence interval = 0.73-0.81), 0.94 (0.94-0.94), 9.78 (6.87-13.93), 0.26 (0.22-0.31), 44.72 (30.77-65.01), and 0.9064, respectively. For the INS, these values were 0.93 (0.90-0.95), 0.93 (0.93-0.93), 22.38 (12.47-40.14), 0.08 (0.05-0.11), 289.81 (169.08-496.76), and 0.9781, respectively. These results indicate that the INS exhibits better diagnostic value for DS. However, further research is needed to identify other biomarkers to improve prenatal screening tests.
Topics: Biomarkers; Down Syndrome; Female; Humans; Odds Ratio; Pregnancy; Pregnancy Trimesters; Prenatal Diagnosis; Publication Bias; ROC Curve; Reproducibility of Results; Sensitivity and Specificity; Ultrasonography, Prenatal
PubMed: 26732706
DOI: 10.1038/srep18866 -
PloS One 2018Biomarkers commonly assessed in prenatal screening have been associated with a number of adverse perinatal and birth outcomes. However, it is not clear whether first... (Meta-Analysis)
Meta-Analysis
Biomarkers commonly assessed in prenatal screening have been associated with a number of adverse perinatal and birth outcomes. However, it is not clear whether first trimester measurements of prenatal screening biomarkers are associated with subsequent risk of gestational diabetes mellitus (GDM). We aimed to systematically review and statistically summarize studies assessing the relationship between first trimester prenatal screening biomarker levels and GDM development. We comprehensively searched PubMed/MEDLINE, EMBASE, CINAHL, and Scopus (from inception through January 2018) and manually searched the reference lists of all relevant articles. We included original, published, observational studies examining the association of first trimester pregnancy associated plasma protein-A (PAPP-A) and/or free β-human chorionic gonadotropin (free β-hCG) levels with GDM diagnosis. Mean differences were calculated comparing PAPP-A and free β-hCG multiples of median (MoM) levels between women who developed GDM and those who did not and were subsequently pooled using two-sided random-effects models. Our meta-analysis of 13 studies on PAPP-A and nine studies on free β-hCG indicated that first trimester MoM levels for both biomarkers were lower in women who later developed GDM compared to women who remained normoglycemic throughout pregnancy (MD -0.17; 95% CI -0.24, -0.10; MD -0.04; 95% CI -0.07-0.01). There was no evidence for between-study heterogeneity among studies on free β-hCG (I2 = 0%). A high level of between-study heterogeneity was detected among the studies reporting on PAPP-A (I2 = 90%), but was reduced after stratifying by geographic location, biomarker assay method, and timing of GDM diagnosis. Our meta-analysis indicates that women who are diagnosed with GDM have lower first trimester levels of both PAPP-A and free β-hCG than women who remain normoglycemic throughout pregnancy. Further assessment of the predictive capacity of these biomarkers within large, diverse populations is needed.
Topics: Biomarkers; Chorionic Gonadotropin, beta Subunit, Human; Diabetes, Gestational; Female; Humans; Pregnancy; Pregnancy Trimester, First; Pregnancy-Associated Plasma Protein-A; Prenatal Diagnosis
PubMed: 30048548
DOI: 10.1371/journal.pone.0201319 -
Journal of Ultrasound in Medicine :... Dec 2012Pulmonary agenesis is a rare congenital anomaly, estimated to complicate around 1 per 15,000 pregnancies, in which there is complete absence or severe hypoplasia of one... (Review)
Review
Pulmonary agenesis is a rare congenital anomaly, estimated to complicate around 1 per 15,000 pregnancies, in which there is complete absence or severe hypoplasia of one or both lungs, frequently associated with other abnormalities. A prospective prenatal diagnosis is a challenge, and a substantial proportion of cases are diagnosed by fetal magnetic resonance imaging, postnatal computed tomography, or postmortem. Thus, there are only a few reported cases of prenatal diagnosis in the literature. We report the prenatal diagnosis of isolated right lung agenesis diagnosed with sonography alone at a relatively early gestational age. We also present a systematic review of the literature for this condition to accompany this case study.
Topics: Abnormalities, Multiple; Female; Humans; Lung; Lung Diseases; Pregnancy; Ultrasonography, Prenatal; Young Adult
PubMed: 23197556
DOI: 10.7863/jum.2012.31.12.2017