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Genetics in Medicine : Official Journal... Jan 2012We performed a systematic review of factors affecting parental decisions to continue or terminate a pregnancy after prenatal diagnosis of a sex chromosome abnormality,... (Review)
Review
We performed a systematic review of factors affecting parental decisions to continue or terminate a pregnancy after prenatal diagnosis of a sex chromosome abnormality, as reported in published studies from 1987 to May 2011. Based on the Matrix Method for systematic reviews, 19 studies were found in five electronic databases, meeting specific inclusion/exclusion criteria. Abstracted data were organized in a matrix. Alongside the search for factors influencing parental decisions, each study was judged on its methodological quality and assigned a methodological quality score. Decisions either to terminate or to continue a sex chromosome abnormality-affected pregnancy shared five similar factors: specific type of sex chromosome abnormality, gestational week at diagnosis, parents' age, providers' genetic expertise, and number of children/desire for (more) children. Factors unique to termination decisions included parents' fear/anxiety and directive counseling. Factors uniquely associated with continuation decisions were parents' socioeconomic status and ethnicity. The studies' average methodological quality score was 10.6 (SD = 1.67; range, 8-14). Findings from this review can be useful in adapting and modifying guidelines for genetic counseling after prenatal diagnosis of a sex chromosome abnormality. Moreover, improving the quality of future studies on this topic may allow clearer understanding of the most influential factors affecting parental decisions.
Topics: Abortion, Induced; Decision Making; Female; Humans; Parents; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis; Sex Chromosome Aberrations
PubMed: 22237429
DOI: 10.1038/gim.0b013e31822e57a7 -
PloS One 2016Congenital infection caused by Toxoplasma gondii can cause serious damage that can be diagnosed in utero or at birth, although most infants are asymptomatic at birth.... (Meta-Analysis)
Meta-Analysis Review
Performance of Polymerase Chain Reaction Analysis of the Amniotic Fluid of Pregnant Women for Diagnosis of Congenital Toxoplasmosis: A Systematic Review and Meta-Analysis.
INTRODUCTION
Congenital infection caused by Toxoplasma gondii can cause serious damage that can be diagnosed in utero or at birth, although most infants are asymptomatic at birth. Prenatal diagnosis of congenital toxoplasmosis considerably improves the prognosis and outcome for infected infants. For this reason, an assay for the quick, sensitive, and safe diagnosis of fetal toxoplasmosis is desirable.
GOAL
To systematically review the performance of polymerase chain reaction (PCR) analysis of the amniotic fluid of pregnant women with recent serological toxoplasmosis diagnoses for the diagnosis of fetal toxoplasmosis.
METHOD
A systematic literature review was conducted via a search of electronic databases; the literature included primary studies of the diagnostic accuracy of PCR analysis of amniotic fluid from pregnant women who seroconverted during pregnancy. The PCR test was compared to a gold standard for diagnosis.
RESULTS
A total of 1.269 summaries were obtained from the electronic database and reviewed, and 20 studies, comprising 4.171 samples, met the established inclusion criteria and were included in the review. The following results were obtained: studies about PCR assays for fetal toxoplasmosis are generally susceptible to bias; reports of the tests' use lack critical information; the protocols varied among studies; the heterogeneity among studies was concentrated in the tests' sensitivity; there was evidence that the sensitivity of the tests increases with time, as represented by the trimester; and there was more heterogeneity among studies in which there was more time between maternal diagnosis and fetal testing. The sensitivity of the method, if performed up to five weeks after maternal diagnosis, was 87% and specificity was 99%.
CONCLUSION
The global sensitivity heterogeneity of the PCR test in this review was 66.5% (I(2)). The tests show low evidence of heterogeneity with a sensitivity of 87% and specificity of 99% when performed up to five weeks after maternal diagnosis. The test has a known performance and could be recommended for use up to five weeks after maternal diagnosis, when there is suspicion of fetal toxoplasmosis.
Topics: Amniotic Fluid; Female; Humans; Polymerase Chain Reaction; Pregnancy; Pregnancy Complications, Parasitic; Prenatal Diagnosis; Toxoplasma; Toxoplasmosis, Congenital
PubMed: 27055272
DOI: 10.1371/journal.pone.0149938 -
Transfusion Medicine Reviews Apr 2021Hemolytic disease of fetus and newborn (HDFN) imposes great healthcare burden being associated with maternal alloimmunization against parental-inherited fetal red blood... (Meta-Analysis)
Meta-Analysis Review
Hemolytic disease of fetus and newborn (HDFN) imposes great healthcare burden being associated with maternal alloimmunization against parental-inherited fetal red blood cell antigens causing fetal anemia or death. Noninvasive prenatal analysis (NIPT) provides safe fetal RHD genotyping for early identification of risk pregnancies and proper management guidance. We aimed to conduct systematic review and meta-analysis on NIPT's beneficial application, in conjunction with quantitative maternal alloantibody analysis, for early diagnosis of pregnancies at risk. Search for relevant articles was done in; PubMed/Medline, Scopus, and Ovid (January 2006April 2020), including only English-written articles reporting reference tests and accuracy data. Nineteen eligible studies were critically appraised. NIPT was estimated highly sensitive/specific for fetal RHD genotyping beyond 11-week gestation. Amplifications from ≥2 exons are optimum to increase accuracy. NIPT permits cost-effectiveness, precious resources sparing, and low emotional stress. Knowledge of parental ethnicity is important for correct NIPT result interpretations and quantitative screening. Cut-off titer ≥8-up-to-32 is relevant for anti-D alloantibodies, while, lower titer is for anti-K. Alloimmunization is influenced by maternal RHD status, gravida status, and history of adverse obstetrics. In conclusion, NIPT allows evidence-based provision of routine anti-D immunoprophylaxis and estimates potential fetal risks for guiding further interventions. Future large-scale studies investigating NIPT's non-RHD genotyping within different ethnic groups and in presence of clinically significant alloantibodies are needed.
Topics: Blood Group Antigens; Female; Fetus; Genotype; Humans; Isoantibodies; Pregnancy; Prenatal Diagnosis; Rh-Hr Blood-Group System
PubMed: 33781630
DOI: 10.1016/j.tmrv.2021.02.001 -
American Journal of Obstetrics &... Mar 2023Although cell-free DNA screening for sex chromosome abnormalities is increasingly used in clinical practice, its diagnostic accuracy and clinical utility remain unclear.... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
Although cell-free DNA screening for sex chromosome abnormalities is increasingly used in clinical practice, its diagnostic accuracy and clinical utility remain unclear. This systematic review and meta-analysis aimed to determine the performance of cell-free DNA in the detection of sex chromosome abnormalities.
DATA SOURCES
Medline and PubMed, Embase, and Web of Science were searched from inception to January 2022 for articles relating to cell-free DNA screening for sex chromosome abnormalities.
STUDY ELIGIBILITY CRITERIA
Original articles, randomized control trials, conference abstracts, cohort and case-control studies, and case series with more than 10 cases with diagnostic confirmation were considered for inclusion.
METHODS
Quality assessment of each included publication was performed using the Quality Assessment of Diagnostic Accuracy Studies 2 tool. The positive predictive value was calculated as the proportion of true positive cases among those who tested positive and underwent diagnostic testing. Sensitivity and specificity were pooled, and a summary receiver operating characteristic curve was produced using bivariate models that included studies that had diagnostic confirmation for high- and low-risk women.
RESULTS
The search identified 7553 results. Of these, 380 proceeded to the full-text screening, of which 94 articles were included in the meta-analysis with a total of 1,531,240 women tested. All studies reported a confirmatory genetic test. The pooled positive predictive value was 49.4% (95% confidence interval, 45.8-53.1). The pooled positive predictive value was 32.0% (95% confidence interval, 27.0%-37.3%) for monosomy X, 67.6% (95% confidence interval, 62.5%-72.5%) for XXY, 57.5% (95% confidence interval, 51.7%-63.1%) for XXX, and 70.9% (95% confidence interval, 63.9%-77.1%) for XYY. The pooled sensitivity and specificity of cell-free DNA for sex chromosome abnormalities were 94.1% (95% confidence interval, 90.8%-96.3%) and 99.5% (95% confidence interval, 99.0%-99.7%), respectively, with an area under the summary receiver operating characteristic curve of 0.934 (95% confidence interval, 0.907-0.989).
CONCLUSION
Although the sensitivity and specificity of cell-free DNA for sex chromosome abnormalities are high, the positive predictive value was approximately 50%. The positive predictive value was higher for sex chromosome abnormalities with a supernumerary Y chromosome and lower for monosomy X. Clinicians should inform couples about these findings when offering cell-free DNA for sex chromosome abnormalities.
Topics: Pregnancy; Humans; Female; Turner Syndrome; Noninvasive Prenatal Testing; Sex Chromosome Aberrations; Sensitivity and Specificity; Cell-Free Nucleic Acids
PubMed: 36572107
DOI: 10.1016/j.ajogmf.2022.100844 -
BJOG : An International Journal of... Sep 2016Controversies about the performance of conventional prenatal screening using maternal serum and ultrasound markers (PSMSUM) in detecting Down syndrome (DS) have been... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Controversies about the performance of conventional prenatal screening using maternal serum and ultrasound markers (PSMSUM) in detecting Down syndrome (DS) have been raised as a result of a recently available noninvasive prenatal test based on cell-free fetal DNA sequencing.
OBJECTIVES
To evaluate the screening performance of PSMSUM in detecting DS in Chinese women.
SEARCH STRATEGY
An exhaustive literature search of MEDLINE, Embase, the Cochrane Library, ISI Web of Science and China BioMedical Disc.
SELECTION CRITERIA
Primary studies, published from January 2004 to November 2014, which examined the screening accuracy of PSMSUM in pregnant Chinese women, compared with a reference standard, either chromosomal verification or inspection of the newborn.
DATA COLLECTION AND ANALYSIS
Data were extracted as screening positive/negative results for Down and non-Down syndrome pregnancies, allowing estimation of sensitivities and specificities. Risks of bias within and across studies were assessed. Screening accuracy measures were pooled using a bivariate random effects regression model.
MAIN RESULTS
Seventy-eight studies, involving six categories of PSMSUM, were included. Second-trimester double serum [pooled sensitivity (SEN) = 0.80, pooled specificity (SPE) = 0.95] and triple-serum (pooled SEN = 0.79, pooled SPE = 0.96) screening were the predominant PSMSUM methods. The screening performances of these methods achieved the national standard but varied enormously across studies. First-trimester combined screening (pooled SEN = 0.92, pooled SPE = 0.93) and second-trimester quadruple serum screening (median SEN = 0.86, median SPE = 0.96) performed better, but were rarely used.
AUTHOR'S CONCLUSIONS
Second-trimester maternal serum screening has the potential to achieve satisfactory screening performance in middle- and low-income countries. The reported enormous range in screening performance of second-trimester PSMSUM calls for urgent implementation of methods for performance optimization.
TWEETABLE ABSTRACT
Meta-analysis results show good accuracy of maternal serum and ultrasound screening for trisomy 21 in Chinese women.
Topics: Asian People; Biomarkers; China; Chorionic Gonadotropin; Chorionic Gonadotropin, beta Subunit, Human; Down Syndrome; Female; Humans; Maternal Age; Maternal Serum Screening Tests; Pregnancy; Pregnancy-Associated Plasma Protein-A; Prenatal Diagnosis; Ultrasonography; alpha-Fetoproteins
PubMed: 27627591
DOI: 10.1111/1471-0528.14009 -
Ultrasound in Obstetrics & Gynecology :... Apr 2010To systematically review the diagnostic accuracy of second-trimester transabdominal ultrasound in detecting orofacial clefts in low- and high-risk populations and to... (Review)
Review
OBJECTIVES
To systematically review the diagnostic accuracy of second-trimester transabdominal ultrasound in detecting orofacial clefts in low- and high-risk populations and to compare two-dimensional (2D) with three-dimensional (3D) ultrasound techniques.
METHODS
MEDLINE and EMBASE were searched for articles published in English, Dutch, French or German using the keywords 'cleft' and 'ultrasound' or 'screening' or 'sonogram' and 'prenatal' or 'antenatal' or 'fetus' to identify cohort studies and randomized trials in order to assess the detection rate by prenatal ultrasound of cleft lip and palate in high-risk and low-risk pregnant women.
RESULTS
Of 451 citations identified, 27 met the criteria for the systematic review, 21 involving unselected low-risk populations and six involving high-risk populations. In the selected studies there was diversity in the gestational age at which the ultrasound examination was performed and there was considerable variety in the diagnostic accuracy of 2D ultrasound in the low-risk women, with prenatal detection rates ranging from 9% to 100% for cleft lip with or without cleft palate, 0% to 22% for cleft palate only and 0% to 73% for all types of cleft. 3D ultrasound in high-risk women resulted in a detection rate of 100% for cleft lip, 86% to 90% for cleft lip with palate and 0% to 89% for cleft palate only.
CONCLUSIONS
2D ultrasound screening for cleft lip and palate in a low-risk population has a relatively low detection rate but is associated with few false-positive results. 3D ultrasound can achieve a reliable diagnosis, but not of cleft palate only.
Topics: Cleft Lip; Cleft Palate; Female; Gestational Age; Humans; Pregnancy; Ultrasonography, Prenatal
PubMed: 20235140
DOI: 10.1002/uog.7472 -
Ultraschall in Der Medizin (Stuttgart,... Apr 2022To describe the postnatal outcome of fetal meconium peritonitis and identify prenatal predictors of neonatal surgery. (Meta-Analysis)
Meta-Analysis
PURPOSE
To describe the postnatal outcome of fetal meconium peritonitis and identify prenatal predictors of neonatal surgery.
METHODS
We retrospectively reviewed all fetuses with ultrasound findings suspicious for meconium peritonitis at a single center over a 10-year period. A systematic review and meta-analysis were then performed pooling our results with previous studies assessing prenatally diagnosed meconium peritonitis and postnatal outcome. Prenatal sonographic findings were analyzed to identify predictors for postnatal surgery.
RESULTS
34 cases suggestive of meconium peritonitis were diagnosed at our center. These were pooled with cases from 14 other studies yielding a total of 244 cases. Postnatal abdominal surgery was required in two thirds of case (66.5 %). The strongest predictor of neonatal surgery was meconium pseudocyst (OR [95 % CI] 6.75 [2.53-18.01]), followed by bowel dilation (OR [95 % CI] 4.17 [1.93-9.05]) and ascites (OR [95 % CI] 2.57 [1.07-5.24]). The most common cause of intestinal perforation and meconium peritonitis, found in 52.2 % of the cases, was small bowel atresia. Cystic fibrosis was diagnosed in 9.8 % of cases. Short-term neonatal outcomes were favorable, with a post-operative mortality rate of 8.1 % and a survival rate of 100 % in neonates not requiring surgery.
CONCLUSION
Meconium pseudocysts, bowel dilation, and ascites are prenatal predictors of neonatal surgery in cases of meconium peritonitis. Fetuses with these findings should be delivered in centers with pediatric surgery services. Though the prognosis is favorable, cystic fibrosis complicates postnatal outcomes.
Topics: Child; Female; Humans; Infant, Newborn; Intestinal Perforation; Meconium; Peritonitis; Pregnancy; Retrospective Studies; Ultrasonography, Prenatal
PubMed: 32575129
DOI: 10.1055/a-1194-4363 -
Prenatal Diagnosis Jun 2023The screening performance of non-invasive prenatal testing (NIPT) in vanishing twin (VT) pregnancies is relatively unknown. To close this knowledge gap, we conducted a... (Review)
Review
The screening performance of non-invasive prenatal testing (NIPT) in vanishing twin (VT) pregnancies is relatively unknown. To close this knowledge gap, we conducted a systematic review of the available literature. Studies describing the test performance of NIPT for trisomy 21, 18, 13, sex chromosomes and additional findings in pregnancies with a VT were retrieved from a literature search with a publication date until October 4, 2022. The methodological quality of the studies was assessed with the quality assessment tool for diagnostic accuracy studies-2 (QUADAS-2). The screen positive rate of the pooled data and the pooled positive predictive value (PPV) were calculated using a random effects model. Seven studies, with cohort sizes ranging from 5 to 767, were included. The screen positive rate of the pooled data for trisomy 21 was 35/1592 (2.2%), with a PPV of 20% (confirmation in 7/35 cases [95% CI 9.8%-36%]). For trisomy 18, the screen positive rate was 13/1592 (0.91%) and the pooled PPV 25% [95% CI 1.3%-90%]. The screen positive rate for trisomy 13 was 7/1592 (0.44%) and confirmed in 0/7 cases (pooled PPV 0% [95% CI 0%-100%]). The screen positive rate for additional findings was 23/767 (2.9%), of which none could be confirmed. No discordant negative results were reported. There is insufficient data to fully evaluate NIPT performance in pregnancies with a VT. However, existing studies suggest that NIPT can successfully detect common autosomal aneuploidies in pregnancies affected by a VT but with a higher false positive rate. Further studies are needed to determine the optimal timing of NIPT in VT pregnancies.
Topics: Pregnancy; Female; Humans; Pregnancy, Twin; Down Syndrome; Chromosome Disorders; Abortion, Spontaneous; Trisomy 13 Syndrome; Trisomy 18 Syndrome; Fetal Death; Prenatal Diagnosis; Aneuploidy; Trisomy
PubMed: 37226326
DOI: 10.1002/pd.6388 -
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 -
Folia Medica Dec 2023To evaluate the incidence of chromosomal aberrations in apparently isolated ventricular septal defects (VSD), quantify the timing of diagnosis of prenatally diagnosed...
Apparently isolated ventricular septal defect, prenatal diagnosis, association with chromosomal aberrations, spontaneous closure rate in utero and during the first year of life: a systematic review.
To evaluate the incidence of chromosomal aberrations in apparently isolated ventricular septal defects (VSD), quantify the timing of diagnosis of prenatally diagnosed VSDs, and define the spontaneous closure rate prenatally both in utero and during the first year of life.
Topics: Pregnancy; Female; Humans; Ultrasonography, Prenatal; Prenatal Diagnosis; Heart Septal Defects, Ventricular; Chromosome Aberrations; Echocardiography
PubMed: 38351774
DOI: 10.3897/folmed.65.e103828