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Prenatal Diagnosis Feb 2012The objective of this study was to review the published literature on pregnancy termination following a prenatal diagnosis of Down syndrome in the United States. (Review)
Review
OBJECTIVE
The objective of this study was to review the published literature on pregnancy termination following a prenatal diagnosis of Down syndrome in the United States.
METHOD
A systematic search of US English-language articles (1995-2011) was conducted to identify primary research studies that reported data for pregnancies with definitive prenatal diagnosis of Down syndrome with subsequent pregnancy termination. Studies that provided indirect estimates of pregnancy termination, such as mathematical models, were excluded. The weighted mean termination rate was calculated across studies.
RESULTS
Twenty-four studies were accepted. The weighted mean termination rate was 67% (range: 61%-93%) among seven population-based studies, 85% (range: 60%-90%) among nine hospital-based studies, and 50% (range: 0%-100%) among eight anomaly-based studies. Evidence suggests that termination rates have decreased in recent years. Termination rates also varied with maternal age, gestational age, and maternal race/ethnicity.
CONCLUSION
This systematic review presents the largest synthesis of United States data on termination rates following a prenatal diagnosis of Down syndrome. Evidence suggests that termination rates are lower than noted in a previous review that was based on less contemporary studies and had an international focus. Heterogeneity across studies suggests that a summary termination rate may not be applicable to the entire US population.
Topics: Abortion, Eugenic; Adult; Down Syndrome; Female; Humans; Pregnancy; Prenatal Diagnosis; United States
PubMed: 22418958
DOI: 10.1002/pd.2910 -
BMC Pregnancy and Childbirth May 2023To evaluate the diagnostic accuracy of ultrasound and in the diagnosis of Placenta accreta spectrum (PAS). (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To evaluate the diagnostic accuracy of ultrasound and in the diagnosis of Placenta accreta spectrum (PAS).
DATA SOURCES
Screening of MEDLINE, CENTRAL, other bases from inception to February 2022 using the keywords related to placenta accreta, increta, percreta, morbidly adherent placenta, and preoperative ultrasound diagnosis.
STUDY ELIGIBILITY CRITERIA
All available studies- whether were prospective or retrospective- including cohort, case control and cross sectional that involved prenatal diagnosis of PAS using 2D or 3D ultrasound with subsequent pathological confirmation postnatal were included. Fifty-four studies included 5307 women fulfilled the inclusion criteria, PAS was confirmed in 2025 of them.
STUDY APPRAISAL AND SYNTHESIS METHODS
Extracted data included settings of the study, study type, sample size, participants characteristics and their inclusion and exclusion criteria, Type and site of placenta previa, Type and timing of imaging technique (2D, and 3D), severity of PAS, sensitivity and specificity of individual ultrasound criteria and overall sensitivity and specificity.
RESULTS
The overall sensitivity was 0.8703, specificity was 0.8634 with -0.2348 negative correlation between them. The estimate of Odd ratio, negative likelihood ratio and positive likelihood ratio were 34.225, 0.155 and 4.990 respectively. The overall estimates of loss of retroplacental clear zone sensitivity and specificity were 0.820 and 0.898 respectively with 0.129 negative correlation. The overall estimates of myometrial thinning, loss of retroplacental clear zone, the presence of bridging vessels, placental lacunae, bladder wall interruption, exophytic mass, and uterovesical hypervascularity sensitivities were 0.763, 0.780, 0.659, 0.785, 0.455, 0.218 and 0.513 while specificities were 0.890, 0.884, 0.928, 0.809, 0.975, 0.865 and 0.994 respectively.
CONCLUSIONS
The accuracy of ultrasound in diagnosis of PAS among women with low lying or placenta previa with previous cesarean section scars is high and recommended in all suspected cases.
TRIAL REGISTRATION
Number CRD42021267501.
Topics: Pregnancy; Female; Humans; Placenta Accreta; Placenta; Placenta Previa; Cesarean Section; Retrospective Studies; Prospective Studies; Cross-Sectional Studies; Ultrasonography, Prenatal
PubMed: 37189095
DOI: 10.1186/s12884-023-05675-6 -
Ultrasound in Obstetrics & Gynecology :... Jan 2024First, to determine the incremental yield of whole-genome sequencing (WGS) over quantitative fluorescence polymerase chain reaction (QF-PCR)/chromosomal microarray... (Meta-Analysis)
Meta-Analysis Review
Incremental yield of whole-genome sequencing over chromosomal microarray analysis and exome sequencing for congenital anomalies in prenatal period and infancy: systematic review and meta-analysis.
OBJECTIVES
First, to determine the incremental yield of whole-genome sequencing (WGS) over quantitative fluorescence polymerase chain reaction (QF-PCR)/chromosomal microarray analysis (CMA) with and without exome sequencing (ES) in fetuses, neonates and infants with a congenital anomaly that was or could have been detected on prenatal ultrasound. Second, to evaluate the turnaround time (TAT) and quantity of DNA required for testing using these pathways.
METHODS
This review was registered prospectively in December 2022. Ovid MEDLINE, EMBASE, MEDLINE (Web of Science), The Cochrane Library and ClinicalTrials.gov databases were searched electronically (January 2010 to December 2022). Inclusion criteria were cohort studies including three or more fetuses, neonates or infants with (i) one or more congenital anomalies; (ii) an anomaly which was or would have been detectable on prenatal ultrasound; and (iii) negative QF-PCR and CMA. In instances in which the CMA result was unavailable, all cases of causative pathogenic copy number variants > 50 kb were excluded, as these would have been detectable on standard prenatal CMA. Pooled incremental yield was determined using a random-effects model and heterogeneity was assessed using Higgins' I test. Subanalyses were performed based on pre- or postnatal cohorts, cases with multisystem anomalies and those meeting the NHS England prenatal ES inclusion criteria.
RESULTS
A total of 18 studies incorporating 902 eligible cases were included, of which eight (44.4%) studies focused on prenatal cohorts, incorporating 755 cases, and the remaining studies focused on fetuses undergoing postmortem testing or neonates/infants with congenital structural anomalies, constituting the postnatal cohort. The incremental yield of WGS over QF-PCR/CMA was 26% (95% CI, 18-36%) (I = 86%), 16% (95% CI, 9-24%) (I = 85%) and 39% (95% CI, 27-51%) (I = 53%) for all, prenatal and postnatal cases, respectively. The incremental yield increased in cases in which sequencing was performed in line with the NHS England prenatal ES criteria (32% (95% CI, 22-42%); I = 70%) and in those with multisystem anomalies (30% (95% CI, 19-43%); I = 65%). The incremental yield of WGS for variants of uncertain significance (VUS) was 18% (95% CI, 7-33%) (I = 74%). The incremental yield of WGS over QF-PCR/CMA and ES was 1% (95% CI, 0-4%) (I = 47%). The pooled median TAT of WGS was 18 (range, 1-912) days, and the quantity of DNA required was 100 ± 0 ng for WGS and 350 ± 50 ng for QF-PCR/CMA and ES (P = 0.03).
CONCLUSION
While WGS in cases with congenital anomaly holds great promise, its incremental yield over ES is yet to be demonstrated. However, the laboratory pathway for WGS requires less DNA with a potentially faster TAT compared with sequential QF-PCR/CMA and ES. There was a relatively high rate of VUS using WGS. © 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; Cohort Studies; DNA; Exome Sequencing; Microarray Analysis; Prenatal Diagnosis; Ultrasonography; Infant
PubMed: 37725747
DOI: 10.1002/uog.27491 -
Genetics and Molecular Research : GMR Sep 2015We evaluated the system accuracy of noninvasive prenatal diagnosis for abnormal chromosome genetic diseases using cell-free fetal DNA in maternal plasma. Previous... (Review)
Review
We evaluated the system accuracy of noninvasive prenatal diagnosis for abnormal chromosome genetic diseases using cell-free fetal DNA in maternal plasma. Previous studies were searched in the MEDLINE database using the following keywords: "prenatal" and "aneuploidy" and "noninvasive or non-invasive" and "maternal". Identified studies were filtered using a QUADAS instrument. Four studies were identified and analyzed using QUADAS. The studies included 4167 cases of Down syndrome patients determined by noninvasive prenatal diagnosis with a sensitivity of 100% and specificity of 99.3%; There were 3455 cases of Edwards syndrome patients determined by noninvasive prenatal diagnosis with a sensitivity of 97.4% and specificity of 99.95%. Therefore, noninvasive prenatal diagnosis can be used to identify abnormal chromosomes with high accuracy using free fetal DNA in the maternal plasma.
Topics: Adult; Aneuploidy; Chromosomes, Human, Pair 18; DNA; Down Syndrome; Female; Fetus; Humans; Male; Pregnancy; Prenatal Diagnosis; Trisomy; Trisomy 18 Syndrome
PubMed: 26400291
DOI: 10.4238/2015.September.9.1 -
Prenatal Diagnosis Jan 2022The acronym 'TORCH' refers to well-recognised causes of perinatal infections: toxoplasmosis, rubella, cytomegalovirus (CMV) and herpes simplex virus (HSV). A TORCH...
BACKGROUND
The acronym 'TORCH' refers to well-recognised causes of perinatal infections: toxoplasmosis, rubella, cytomegalovirus (CMV) and herpes simplex virus (HSV). A TORCH serology panel is often used to test for maternal primary infection following detection of ultrasound abnormalities in pregnancy.
AIM
This review aims to estimate the diagnostic yield of maternal TORCH serology in pregnancy following fetal ultrasound abnormalities.
MATERIALS AND METHODS
Primary studies published since 2000 that assessed maternal TORCH serology for suspected fetal infection and included information on indications for testing, definition of positive TORCH serology results, and perinatal outcomes were included.
RESULTS
Eight studies with a total of 2538 pregnancies were included. The main indications for testing were polyhydramnios, fetal growth restriction and hyperechogenic bowel. There were 26 confirmed cases of congenital CMV, of which 15 had multiple ultrasound abnormalities. There were no cases of congenital toxoplasmosis, rubella or HSV confirmed in any of the eight studies.
CONCLUSIONS
The clinical utility of TORCH serology for non-specific ultrasound abnormalities such as isolated fetal growth restriction or isolated polyhydramnios is low. It is time to retire the TORCH acronym and the reflex ordering of 'TORCH' panels, as their continued use obscures, rather than illuminates, appropriate investigation for fetal ultrasound abnormalities.
Topics: Adult; Female; Fetus; Humans; Infections; Noninvasive Prenatal Testing; Pregnancy; Pregnancy Complications, Infectious; Pregnancy Outcome; Serology
PubMed: 34893980
DOI: 10.1002/pd.6073 -
Ultrasound in Obstetrics & Gynecology :... May 2015The accuracy of prenatal ultrasound examination in detecting jejunal and ileal atresia has been reported in the literature to be highly variable, at 25-90%. The aim of... (Review)
Review
OBJECTIVE
The accuracy of prenatal ultrasound examination in detecting jejunal and ileal atresia has been reported in the literature to be highly variable, at 25-90%. The aim of this systematic review was to evaluate the accuracy of prenatal ultrasound in detecting non-duodenal small bowel atresia (ND-SBA).
METHODS
MEDLINE, EMBASE and The Cochrane Library, including The Cochrane Database of Systematic Reviews (CDSR), Database of Abstracts of Reviews of Effects (DARE) and The Cochrane Central Register of Controlled Trials (CENTRAL), were searched electronically. The overall detection rate of jejunal or ileal atresia using ultrasound was reported. The accuracy of using polyhydramnios and dilated loops of bowel as diagnostic signs was also explored.
RESULTS
Sixteen studies involving 640 fetuses were included in this review. The detection rate of ND-SBA by prenatal ultrasound was highly variable, with values ranging from 10 to 100%, with an overall prediction of 50.6% (95% CI, 38.0-63.2%). When analyzed separately, the detection rates of jejunal and ileal atresia were 66.3%, (95% CI, 33.9-91.8%) and 25.9% (95% CI, 4.0-58.0%), respectively. Both dilated loops of bowel and polyhydramnios as diagnostic signs for ND-SBA provided a low overall detection rate.
CONCLUSIONS
The diagnostic performance of prenatal ultrasound in identifying ND-SBA is extremely variable. Large studies are needed in order to identify objective and combined criteria for the diagnosis of these anomalies.
Topics: Female; Humans; Ileum; Infant, Newborn; Intestinal Atresia; Intestine, Small; Jejunum; Pregnancy; Reproducibility of Results; Sensitivity and Specificity; Ultrasonography, Prenatal
PubMed: 25157626
DOI: 10.1002/uog.14651 -
Fetal Diagnosis and Therapy 2019Fetal subdural haematoma (SDH) is associated with poor prognosis.
BACKGROUND
Fetal subdural haematoma (SDH) is associated with poor prognosis.
OBJECTIVE
The conflicting evidence from the literature presents a challenge in prenatal counselling. We present a case study and systematic review of the literature for the management and outcome of fetal SDH.
METHODS
Systematic search of electronic database.
RESULTS
A total 45 cases were extracted from 39 papers. Prenatal ultrasonographic features were intracranial echogenicity (42%), lateral ventriculomegaly (38%), presence of an intracranial mass (31%), macrocephaly (24%), midline deviation of cerebral falx (20%), and intracranial fluid collection (11%). Further secondary features were noted including reversed diastolic flow in the middle cerebral artery (11%), echogenic bowel (4%), hydrops fetalis (2%), and elevated middle cerebral artery peak systolic velocity (2%) (all highly likely to be associated with fetal anaemia). The rates of termination of pregnancy, stillbirth, and neonatal death were 18% (8/45), 16% (7/45), and 11% (5/45), respectively. Overall, therefore, the fetal and perinatal mortality was 32% (12/37). Amongst the 24 survivors with available neurological outcome, 42% (10/24) and 58% (14/24) had abnormal and normal neurological outcome, respectively. Underlying aetiology of fetal SDH was not identified in 47% (21/45). Fetal SDH with an identifiable underlying aetiology was the only factor associated with a higher chance of normal neurological outcome when compared to fetal SDH without a detectable cause (78.5 vs. 21.4%, p = 0.035).
CONCLUSIONS
Stillbirth and neonatal death occurred in a significant proportion of fetal SDH. 58% of survivors had normal neurological outcome, and better prognosis was seen in SDH with identifiable underlying aetiology.
Topics: Adult; Fatal Outcome; Female; Fetal Membranes, Premature Rupture; Gestational Age; Hematoma, Subdural; Humans; Magnetic Resonance Imaging; Obstetric Labor, Premature; Predictive Value of Tests; Pregnancy; Risk Factors; Stillbirth; Ultrasonography, Prenatal
PubMed: 30861511
DOI: 10.1159/000496202 -
Annals of Hematology Aug 2016The discovery of fetal DNA (f-DNA) opens the possibility of early non-invasive procedure for detection of paternally inherited mutation of beta-thalassemia. Since 2002,... (Meta-Analysis)
Meta-Analysis Review
The discovery of fetal DNA (f-DNA) opens the possibility of early non-invasive procedure for detection of paternally inherited mutation of beta-thalassemia. Since 2002, some studies have examined the sensitivity and specificity of this method for detection of paternally inherited mutation of thalassemia in pregnant women at risk of having affected babies. We conducted a systematic review of published articles that evaluated using this method for early detection of paternally inherited mutation in maternal plasma. A sensitive search of multiple databases was done in which nine studies met our inclusion criteria. The sensitivity and specificity was 99 and 99 %, respectively. The current study found that detection of paternally inherited mutation of thalassemia using analysis of cell-free fetal DNA is highly accurate. This method could replace conventional and invasive methods.
Topics: Cell-Free System; DNA; Female; Fetus; Humans; Pregnancy; Prenatal Diagnosis; Reproducibility of Results; Sensitivity and Specificity; beta-Thalassemia
PubMed: 26968552
DOI: 10.1007/s00277-016-2620-3 -
Ultrasound in Obstetrics & Gynecology :... Jun 2013Chromosomal microarray analysis (CMA) is utilized in prenatal diagnosis to detect chromosomal abnormalities not visible by conventional karyotyping. A prospective cohort... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
Chromosomal microarray analysis (CMA) is utilized in prenatal diagnosis to detect chromosomal abnormalities not visible by conventional karyotyping. A prospective cohort of women undergoing fetal CMA and karyotyping following abnormal prenatal ultrasound findings is presented in the context of a systematic review and meta-analysis of the literature describing detection rates by CMA and karyotyping.
METHODS
We performed a prospective cohort study of 243 women undergoing CMA alongside karyotyping when a structural abnormality was detected on prenatal ultrasound. A systematic review of the literature was also performed. MEDLINE (1970-Dec 2012), EMBASE (1980-Dec 2012) and CINAHL (1982-June 2012) databases were searched electronically. Selected studies included > 10 cases and prenatal CMA in addition to karyotyping. The search yielded 560 citations. Full papers were retrieved for 86, and 25 primary studies were included in the systematic review.
RESULTS
Our cohort study found an excess detection rate of abnormalities by CMA of 4.1% over conventional karyotyping when the clinical indication for testing was an abnormal fetal ultrasound finding; this was lower than the detection rate of 10% (95% CI, 8-13%) by meta-analysis. The rate of detection for variants of unknown significance (VOUS) was 2.1% (95% CI, 1.3-3.3%) when the indication for CMA was an abnormal scan finding. The VOUS detection rate was lower (1.4%; 95% CI, 0.5-3.7%) when any indication for prenatal CMA was meta-analyzed.
CONCLUSION
We present evidence for a higher detection rate by CMA than by karyotyping not just in the case of abnormal ultrasound findings but also in cases of other indications for invasive testing. It is likely that CMA will replace karyotyping in high-risk pregnancies.
Topics: Chromosome Disorders; Female; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Microarray Analysis; Pregnancy; Prenatal Diagnosis; Prospective Studies; Ultrasonography, Prenatal
PubMed: 23512800
DOI: 10.1002/uog.12464 -
Ultrasound in Obstetrics & Gynecology :... Jul 2014To assess systematically the performance of prenatal magnetic resonance imaging (MRI) in diagnosing the presence, degree and topography of disorders of invasive... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To assess systematically the performance of prenatal magnetic resonance imaging (MRI) in diagnosing the presence, degree and topography of disorders of invasive placentation and to explore the role of the different MRI signs in predicting these disorders. The diagnostic accuracy of ultrasound and MRI in the detection of invasive placentation was also compared.
METHODS
MEDLINE, EMBASE, CINAHL and The Cochrane Library, including The Cochrane Database of Systematic Reviews, Database of Abstracts of Reviews of Effects and The Cochrane Central Register of Controlled Trials, were searched electronically utilizing combinations of the relevant medical subject heading terms, keywords and word variants for 'invasive placentation' and 'magnetic resonance imaging'. Only prospective studies reporting a diagnosis of invasive placentation at the time of MRI and retrospective studies in which the radiologist was blinded to the final results were included in the analysis. The MRI signs explored were: uterine bulging, heterogeneous signal intensity, dark intraplacental bands on T2 weighted sequences, focal interruption of the myometrium and tenting of the bladder. Summary estimates of sensitivity, specificity, positive and negative likelihood ratios (LR+, LR-) and diagnostic odds ratio (DOR) were based, depending on the number of studies, upon DerSimonian-Laird random-effect or hierarchical summary receiver-operating characteristics models.
RESULTS
A total of 18 studies involving 1010 pregnancies at risk for invasive placentation were included. The overall diagnostic accuracy of MRI in detecting the presence of invasive placentation was: sensitivity, 94.4% (95% CI, 86.0-97.9%); specificity, 84.0% (95% CI, 76.0-89.8%); LR+, 5.91 (95% CI, 3.73-9.39); LR-, 0.07 (95% CI, 0.02-0.18); DOR, 89.0 (95% CI, 22.8-348.1). MRI had a high predictive accuracy in assessing both the depth and topography of placental invasion. All five MRI signs showed good predictive accuracy in the diagnosis of disorders of invasive placentation. There was no difference in either the sensitivity (P = 0.24) or the specificity (P = 0.91) between ultrasound and MRI for the detection of invasive placentation.
CONCLUSIONS
Prenatal MRI is highly accurate in diagnosing disorders of invasive placentation. Ultrasound and MRI have comparable predictive accuracy. Large population-based studies are needed in order to assess whether ultrasound can predict the depth and topography of placental invasion as reliably as can MRI.
Topics: Female; Humans; Magnetic Resonance Imaging; Models, Statistical; Placenta Accreta; Pregnancy; Prenatal Diagnosis; Sensitivity and Specificity
PubMed: 24515654
DOI: 10.1002/uog.13327