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Journal of Ultrasound in Medicine :... Nov 2015The purpose of this study was to evaluate the prenatal findings and postnatal outcomes in fetuses with congenital megalourethra. (Review)
Review
OBJECTIVES
The purpose of this study was to evaluate the prenatal findings and postnatal outcomes in fetuses with congenital megalourethra.
METHODS
This retrospective study reviewed our experience and the literature between 1989 and 2014. Prenatal findings were evaluated and compared with postnatal findings, including neonatal mortality and abnormal renal function (need for dialysis or renal transplantation).
RESULTS
Fifty fetuses with congenital megalourethra were analyzed, including 6 cases diagnosed in our centers. Most cases (n = 43 [86.0%]) were diagnosed in the second trimester. Only 1 case was diagnosed in the first trimester, whereas 6 cases (12.0%) were diagnosed in the third trimester. Thirty-five fetuses (70.0%) survived. Bilateral hydroureters were associated with perinatal death (P= .024). Among the survivors, 41.9% of the neonates had renal impairment. The following factors were associated with postnatal renal impairment: presence of severe oligohydramnios/anhydramnios (P = .033), bilateral hydronephrosis (P = .008), and earlier gestational age at delivery (P = .022).
CONCLUSIONS
In fetal megalourethra, bilateral hydroureters, bilateral hydronephrosis, and severe oligohydramnios/anhydramnios are associated with neonatal mortality and renal impairment.
Topics: Causality; Cohort Studies; Comorbidity; Female; Humans; Incidence; Infant; Infant Mortality; Infant, Newborn; Male; Prognosis; Renal Insufficiency; Reproducibility of Results; Risk Factors; Sensitivity and Specificity; Survival Rate; Ultrasonography, Prenatal; Urethra; Urogenital Abnormalities
PubMed: 26446816
DOI: 10.7863/ultra.14.12064 -
The Journal of Obstetrics and... Jul 2023To identify the additional diagnostic value of CNV-seq over conventional karyotyping on the part of chromosomal abnormalities in prenatal diagnosis. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To identify the additional diagnostic value of CNV-seq over conventional karyotyping on the part of chromosomal abnormalities in prenatal diagnosis.
METHOD
This was a systematic review conducted in accordance with PRISMA criteria. In order to clarify related research, PubMed, Web of Science databases (including Core Collection, BIOSIS Previews, MEDLINE, and so on), The Cochrane Library and Wiley Online Library were searched with the terms: "prenatal diagnosis," "CNV-seq," "karyotyping," published from January 2010 to May 2022. No language restrictions. RenMan 5.4 was used for the meta-analysis.
RESULTS
Eight studies were included in this systemic review and meta-analysis, including 11 091 pregnant women with high-risk pregnancy factors or with structurally abnormal fetus under ultrasound. CNV-seq detected a 2% (95% CI, -0% to 4%) additional chromosomal anomalies over conventional karyotyping in the six series. A 4% (95% CI, 3%-6%) pooled mean incremental yield of pathogenic CNVs by CNV-seq over karyotyping was observed, with a 1%-16% range.
CONCLUSION
CNV-seq, applied in prenatal diagnosis, may detect more chromosomal abnormalities when compared with karyotyping. With the advantages of wide coverage, high throughput, high resolution, no culture, good compatibility, and adjustable sequencing depth, CNV-seq has high application value in prenatal diagnosis.
Topics: Pregnancy; Female; Humans; Karyotyping; Chromosome Aberrations; Prenatal Diagnosis; Chromosome Disorders; Pregnancy, High-Risk; DNA Copy Number Variations
PubMed: 37037422
DOI: 10.1111/jog.15652 -
The Journal of Maternal-fetal &... Dec 2023Isolated coronary artery fistula (CAF) is a rare entity in which evidence for both prognosis and need for perinatal treatment is lacking. We aim to evaluate the...
BACKGROUND
Isolated coronary artery fistula (CAF) is a rare entity in which evidence for both prognosis and need for perinatal treatment is lacking. We aim to evaluate the characteristics, evolution and perinatal outcomes of reported cases, including one from our center.
MATERIAL AND METHODS
We performed a systematic review in Medline, Pubmed, and Embase databases for cohort studies or case series related to prenatally diagnosed isolated congenital CAF according to PRISMA guidelines. The search was restricted to articles published until January 2022, including a case report from our center. A descriptive analysis was performed, and perinatal characteristics were dichotomized by outcome (development of symptoms, as well as the need for surgery during the neonatal period). Strength of association between prenatal variables and outcome was evaluated through Odds Ratio.
RESULTS
Only 27 cases of prenatal diagnosis of isolated CAF have been published, including our patient. Most had their origin in the right coronary artery (63%) and drained in the right ventricle (55.6%). Most cases (72%) developed progressive intrauterine dilation of the fistulous tract, which was usually associated with symptoms of cardiac overload, such as cardiomegaly (57.7%). Up to two-thirds of prenatally diagnosed patients developed heart failure symptoms in the neonatal period, and 84% required postnatal intervention. Prenatal diagnosis of both cardiomegaly and diastolic steal is associated with an OR of 52 and 41 of developing postnatal symptoms.
CONCLUSION
Prenatal diagnosis of isolated CAF can be achieved with adequate tools and trained sonographers. The development of cardiomegaly and diastolic steal significantly increases the risk of developing postnatal symptoms.
Topics: Infant, Newborn; Pregnancy; Female; Humans; Coronary Vessels; Prognosis; Prenatal Diagnosis; Heart Defects, Congenital; Fistula; Cardiomegaly; Vascular Diseases
PubMed: 37121905
DOI: 10.1080/14767058.2023.2206938 -
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 -
Obstetrics and Gynecology May 2020To examine the relationship between prenatal diagnostics (ultrasound examination and amniotic fluid Zika virus testing) and postnatal congenital Zika syndrome...
OBJECTIVE
To examine the relationship between prenatal diagnostics (ultrasound examination and amniotic fluid Zika virus testing) and postnatal congenital Zika syndrome abnormalities.
DATA SOURCES
Systematic searches were performed in 27 databases, including ClinicalTrials.gov, from inception to July 1, 2019, for articles with the keywords "Zika," "prenatal," "ultrasound," and "amniocentesis."
METHODS OF STUDY SELECTION
A total of 3,049 unique records were identified. Two reviewers independently assessed titles, abstracts, and full texts for relevance; 84 articles met the inclusion criteria. These articles describe 402 mother-fetus or mother-neonate dyads; 385 were included in the review of prenatal ultrasound examination, and 56 in the review of amniocentesis (39 in both).
TABULATION, INTEGRATION, AND RESULTS
Among 195 fetuses with congenital Zika syndrome findings on prenatal ultrasound examination, postnatal congenital Zika syndrome abnormalities were reported for 153 (78%; 95% CI 7-84%). High proportions of microcephaly (76%; 95% CI 69-82%) and brain abnormalities (78%; 95% CI 69-86%) were confirmed postnatally. Among 190 fetuses without congenital Zika syndrome findings on prenatal ultrasound examination, 17% (95% CI 12-24%) had congenital Zika syndrome abnormalities identified postnatally. Structural congenital Zika syndrome abnormalities were identified postnatally in approximately equal proportions among dyads with and without Zika virus RNA detected in an amniotic fluid specimen (68% and 67%; 95% CI 52-82% and 95% CI 38-88%). In six pregnancies, Zika virus RNA was detected in amniotic fluid but not in a subsequent amniocentesis specimen.
CONCLUSION
Prenatal ultrasound examination frequently detects structural findings associated with Zika virus infection; however, not all abnormalities are detected, and some may represent transient findings. As with other congenital infections, prenatal detection may vary with timing of infection, timing of ultrasound examination, technical expertise, and severity of abnormalities. The detection of Zika virus RNA in amniotic fluid in the included studies did not predict the risk for congenital Zika syndrome abnormalities in these cases, and clearance of Zika virus RNA from amniotic fluid appears possible after maternal infection. Diagnostic testing for Zika virus infection remains a shared decision between patients and clinicians, and more data are needed to define clinical predictors that will inform these decisions.
SYSTEMATIC REVIEW REGISTRATION
PROSPERO, CRD42018080959.
Topics: Adult; Amniocentesis; Female; Fetal Diseases; Humans; Pregnancy; Ultrasonography, Prenatal; Young Adult; Zika Virus; Zika Virus Infection
PubMed: 32282593
DOI: 10.1097/AOG.0000000000003829 -
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 -
Ultrasound in Obstetrics & Gynecology :... Oct 2019To estimate the procedure-related risk of miscarriage after amniocentesis and chorionic villus sampling (CVS) based on a systematic review of the literature and an... (Comparative Study)
Comparative Study Meta-Analysis
OBJECTIVE
To estimate the procedure-related risk of miscarriage after amniocentesis and chorionic villus sampling (CVS) based on a systematic review of the literature and an updated meta-analysis.
METHODS
A search of MEDLINE, EMBASE and The Cochrane Library was carried out to identify studies reporting complications following CVS or amniocentesis. Eligible for inclusion were large controlled studies reporting data for pregnancy loss prior to 24 weeks' gestation. Study authors were contacted when required to identify additional necessary data. Data for cases that had an invasive procedure and controls were inputted into contingency tables and the risk of miscarriage was estimated for each study. Summary statistics based on a random-effects model were calculated after taking into account the weighting for each study included in the systematic review. Procedure-related risk of miscarriage was estimated as a weighted risk difference from the summary statistics for cases and controls. Subgroup analyses were performed according to the similarity in risk levels for chromosomal abnormality between the invasive-testing and control groups. Heterogeneity was assessed using the I statistic. Egger's bias was estimated to assess reporting bias in published studies.
RESULTS
The electronic search yielded 2943 potential citations, from which 12 controlled studies for amniocentesis and seven for CVS were selected for inclusion in the systematic review. A total of 580 miscarriages occurred following 63 723 amniocentesis procedures, resulting in a weighted risk of pregnancy loss of 0.91% (95% CI, 0.73-1.09%). In the control group, there were 1726 miscarriages in 330 469 pregnancies with a loss rate of 0.58% (95% CI, 0.47-0.70%). The weighted procedure-related risk of miscarriage following amniocentesis was 0.30% (95% CI, 0.11-0.49%; I = 70.1%). A total of 163 miscarriages occurred following 13 011 CVS procedures, resulting in a risk of pregnancy loss of 1.39% (95% CI, 0.76-2.02%). In the control group, there were 1946 miscarriages in 232 680 pregnancies with a loss rate of 1.23% (95% CI, 0.86-1.59%). The weighted procedure-related risk of miscarriage following CVS was 0.20% (95% CI, -0.13 to 0.52%; I = 52.7%). However, when studies including only women with similar risk profiles for chromosomal abnormality in the intervention and control groups were considered, the procedure-related risk for amniocentesis was 0.12% (95% CI, -0.05 to 0.30%; I = 44.1%) and for CVS it was -0.11% (95% CI, -0.29 to 0.08%; I = 0%).
CONCLUSIONS
The procedure-related risks of miscarriage following amniocentesis and CVS are lower than currently quoted to women. The risk appears to be negligible when these interventions were compared to control groups of the same risk profile. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.
Topics: Abortion, Spontaneous; Adult; Amniocentesis; Chorionic Villi Sampling; Chromosome Aberrations; Embryo Loss; Female; Gestational Age; Humans; Pregnancy; Pregnancy Trimester, Second; Prenatal Diagnosis; Randomized Controlled Trials as Topic; Risk Assessment
PubMed: 31124209
DOI: 10.1002/uog.20353 -
BJOG : An International Journal of... Jan 2021Postpartum haemorrhage (PPH) causes substantial morbidity and mortality worldwide. A reliable prognostic tool for PPH has potential to aid prevention efforts.
BACKGROUND
Postpartum haemorrhage (PPH) causes substantial morbidity and mortality worldwide. A reliable prognostic tool for PPH has potential to aid prevention efforts.
OBJECTIVE
Systematically to identify and appraise prognostic modelling studies for prediction of PPH.
SEARCH STRATEGY
MEDLINE, Embase, CINAHL and the Cochrane Library were searched using a combination of terms and synonyms including 'prediction tool', 'risk score' and 'postpartum haemorrhage'.
SELECTION CRITERIA
Any observational or experimental study developing a prognostic model for women's risk of PPH. English language publications.
DATA COLLECTION AND ANALYSIS
Predesigned data extraction form to record: data source; participant criteria; outcome; candidate predictors; actual predictors; sample size; missing data; model development; model performance; model evaluation; interpretation.
MAIN RESULTS
Of 2146 citations screened, 14 studies were eligible for inclusion. Studies addressed populations of women who experienced placenta praevia, placenta accreta spectrum, vaginal birth, caesarean birth (CS) and the general obstetric population. All studies were at high risk of bias due to low sample size, no internal validation, suboptimal or no external validation or no reporting or handling of missing data. Five studies raised applicability concerns. Three externally validated and three internally validated studies show potential for robust external validation.
CONCLUSION
Of 14 prognostic models for PPH risk, three have some potential for clinical use: in CS, in placenta accreta spectrum disorders with MRI placental Evaluation and in placenta praevia. Future research requires robust internal and external validation of existing tools and development of a model for use in the general obstetric population.
TWEETABLE ABSTRACT
Current PPH prediction tools need external validation: one for CS, one for placenta praevia and one for placenta accreta. Tools are needed for labouring women.
Topics: Female; Humans; Postpartum Hemorrhage; Predictive Value of Tests; Pregnancy; Prenatal Care; Prenatal Diagnosis; Risk Factors
PubMed: 32575159
DOI: 10.1111/1471-0528.16379 -
European Journal of Obstetrics,... Apr 2022To estimate the incremental yield of single nucleotide polymorphism (SNP) array over karyotype and to assess the diagnostic accuracy of SNP array as a stand-alone test... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To estimate the incremental yield of single nucleotide polymorphism (SNP) array over karyotype and to assess the diagnostic accuracy of SNP array as a stand-alone test versus SNP array with karyotype in detecting chromosomal abnormalities for prenatal diagnosis in women with an abnormal fetal ultrasound.
STUDY DESIGN
Studies in which SNP array and karyotype had been used for diagnosing chromosomal aberrations in fetuses with abnormal ultrasound findings were included. A systematic search of relevant studies published in the English language in EMBASE, PubMed, CENTRAL, CDSR (Cochrane database of systematic reviews), SCOPUS and Web of science between 1996 and May 2020 was performed. Primary outcome was incremental yield of SNP array over karyotype (number of patients with abnormalities detected by SNP array over number of patients with normal karyotype). Other outcomes included diagnostic accuracy of SNP array alone versus SNP array and karyotype for prenatal diagnosis. Pooled sensitivities, specificities, and their 95% confidence intervals (CI) were presented.
RESULT(S)
Seven studies were included. The incremental yield of SNP array over karyotype was 8% (95% Confidence interval, CI 4-12%) while incremental yield of karyotype over SNP array in foetus with abnormal ultrasound was 0% (95% CI 0-1%). The agreement between SNP array and karyotype was 92%. The variant of unknown significance rates ranged between 4 and 8 %. The pooled sensitivity and specificity of SNP array versus SNP array and karyotype was 0.97 (95% CI 0.92-0.99) and 1.00 (95% CI1.00-1.00), respectively.
CONCLUSION(S)
SNP array provides additional information on chromosomal abnormalities over and above conventional karyotype. When used as a stand-alone test, SNP array performs favourably as a diagnostic modality when compared against SNP array and karyotype for prenatal diagnosis with an abnormal fetal ultrasound.
Topics: Chromosome Aberrations; Female; Fetus; Humans; Karyotype; Karyotyping; Polymorphism, Single Nucleotide; Pregnancy; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 35245714
DOI: 10.1016/j.ejogrb.2022.02.011 -
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