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Scientific Reports Apr 2021The aim of this study was to detect a parameter for predicting prenatal complications or postnatal surgical options after detecting a fetal exomphalos. This was a...
The aim of this study was to detect a parameter for predicting prenatal complications or postnatal surgical options after detecting a fetal exomphalos. This was a retrospective analysis of prenatal diagnosis and outcome of fetuses with 41 cases of exomphalos in between 2007 and 2017, considering the measurement of ratios. The 41 fetuses with exomphalos were examined, 34 cases (82.9%) with karyotyping and 16 cases (39%) with an abnormal karyotype. Outcome of 39 cases showed 6 abortions (15.4%), 15 terminations (38.5%), an intrauterine fetal death (2.5%) and 17 alive babies (43.6%), which were grouped in two: small exomphalos (n = 6, 35.3%) and big exomphalos (n = 11, 64.7%). Maximal diameter of exomphalos/abdomen circumference-ratio (EDmax/AC-ratio) with a cut-off of 0.24 showed a better predictive value of postnatal primary closure. Exomphalos is correlated with abnormal karyotype. EDmax/AC-ratio gives the best prediction for postnatal primary closure of the defect.
Topics: Adult; Female; Hernia, Umbilical; Humans; Middle Aged; Pregnancy; Prenatal Diagnosis; Retrospective Studies; Ultrasonography, Prenatal; Young Adult
PubMed: 33888820
DOI: 10.1038/s41598-021-88245-0 -
BMC Pregnancy and Childbirth May 2023In terms of embryonic origin, vascular ring is a congenital anomaly in which the aortic arch and its branches completely or incompletely encircle and compress the...
BACKGROUND
In terms of embryonic origin, vascular ring is a congenital anomaly in which the aortic arch and its branches completely or incompletely encircle and compress the trachea or esophagus. Early and accurate diagnosis of a vascular ring is the key to treatment. Prenatal diagnosis mainly relies on fetal echocardiography, but the rate of missed diagnosis and misdiagnosis is still very high, and the prognosis has not been evaluated. The aim of this study was to investigate the accuracy of prenatal diagnosis and to evaluate the prognosis semi-quantitatively according to the shape of the ring and the distance between the vessel and the trachea.
METHODS
From 2019 to 2021, 37,875 fetuses underwent prenatal ultrasound examination in our center. All fetal cardiac examinations were performed using the fetal echocardiography method proposed by the American Institute of Ultrasound in Medicine (AIUM) combined with dynamic sequential cross-sectional observation (SCS). For SCS, the standard abdominal section was taken as the initial section, and the probe was moved cephalically along the long axis of the body until the superior mediastinum had disappeared. If a vascular ring was found, the shape of the ring and the distance of the branch to the airway were observed. The distance relationship with the airway was divided into three grades: I-III; the closer the distance, the lower the grade. The vascular rings were monitored every 4 weeks before birth. All were monitored before surgery or 1 year after birth.
RESULTS
A total of 418 cases of vascular rings were detected. There was no missed diagnoses or misdiagnoses by SCS. The vessels formed different shaped rings according to their origin and route. Grade I, "" and "O" rings have a poor prognosis and are associated with the highest risk of respiratory symptoms.
CONCLUSIONS
SCS can accurately diagnose vascular rings before delivery, evaluate the shape and size of the rings to conduct prenatal monitoring of children until birth, which plays a guiding role in airway compression after birth.
Topics: Female; Humans; Pregnancy; Cross-Sectional Studies; Prenatal Diagnosis; Prognosis; Ultrasonography, Prenatal; Vascular Ring
PubMed: 37131147
DOI: 10.1186/s12884-023-05637-y -
The Journal of International Medical... Jul 2022Copy number variations (CNVs) in chromosome 16p11.2 (deletions and duplications) are not rare. 16p11.2 microdeletion is among the most commonly known genetic etiologies...
Copy number variations (CNVs) in chromosome 16p11.2 (deletions and duplications) are not rare. 16p11.2 microdeletion is among the most commonly known genetic etiologies of autism spectrum disorder, overweightness, and related neurodevelopmental disorders. Here, we report the prenatal diagnosis and genetic counseling of a maternally inherited 16p11.2 microdeletion. In this family, the mother and fetus both have a normal phenotype and the same microdeletion. Following the use of molecular genetic techniques, including array-based methods, the number of reported cases has rapidly increased. The combination of prenatal ultrasound, karyotype analysis, chromosomal microarray analysis (CMA), and genetic counseling is helpful for the prenatal diagnosis of chromosomal microdeletions/microduplications.
Topics: Autism Spectrum Disorder; Chromosome Deletion; Chromosomes; DNA Copy Number Variations; Female; Humans; Karyotyping; Pregnancy; Prenatal Diagnosis
PubMed: 35808818
DOI: 10.1177/03000605221109400 -
European Radiology Nov 2023To investigate the role of MRI in the diagnosis and classification of fetal microtia.
OBJECTIVE
To investigate the role of MRI in the diagnosis and classification of fetal microtia.
METHODS
Ninety-five fetuses with suspected microtia based on ultrasound and MRI performed within 1 week were enrolled in this study. The diagnosis based on MRI was compared with postnatal diagnosis. Among the microtia cases suspected on the basis of MRI, mild and severe cases were further classified. In addition, external auditory canal (EAC) atresia was evaluated by MRI in 29 fetuses with a gestational age > 28 weeks, and the accuracy of MRI in the diagnosis and classification of microtia was determined.
RESULTS
Of 95 fetuses, 83 were considered to have microtia on the basis of MRI, 81 were confirmed to have microtia, and 14 were found to be normal according to postnatal diagnosis. Among 190 external ears in 95 fetuses, 40 ears were suspected to have mild microtia, and 52 ears were suspected to have severe microtia on the basis of MRI. According to the postnatal diagnosis, mild and severe microtia were confirmed in 43 and 49 ears, respectively. Among the 29 fetuses with a gestational age > 28 weeks, 23 ears were suspected to have EAC atresia according to MRI and 21 ears were ultimately confirmed to have EAC atresia. The accuracy of MRI in diagnosing microtia and EAC atresia was 93.68% and 93.10%, respectively.
CONCLUSION
MRI shows good performance in diagnosing fetal microtia and has the potential to evaluate its severity on the basis of classification and EAC status.
CLINICAL RELEVANCE STATEMENT
This study was aimed at investigating the role of MRI in the diagnosis and classification of fetal microtia. MRI shows good performance and can help evaluate microtia severity and EAC atresia, thus allowing for better clinical management.
KEY POINTS
• MRI is a useful adjunct to prenatal ultrasound. • MRI has a higher accuracy rate than ultrasound in diagnosing fetal microtia. • The accurate classification of fetal microtia and the diagnosis of external auditory canal atresia through MRI may help guide clinical management.
Topics: Pregnancy; Female; Humans; Infant; Congenital Microtia; Ear, External; Prenatal Diagnosis; Fetus; Magnetic Resonance Imaging; Ultrasonography, Prenatal; Retrospective Studies
PubMed: 37311804
DOI: 10.1007/s00330-023-09816-5 -
Archives of Gynecology and Obstetrics Dec 2021To assess the spectrum of associated anomalies, the intrauterine course, postnatal outcome and management of fetuses with truncus arteriosus communis (TAC) METHODS: All...
PURPOSE
To assess the spectrum of associated anomalies, the intrauterine course, postnatal outcome and management of fetuses with truncus arteriosus communis (TAC) METHODS: All cases of TAC diagnosed prenatally over a period of 8 years were retrospectively collected in two tertiary referral centers. All additional prenatal findings were assessed and correlated with the outcome. The accuracy of prenatal diagnosis was assessed.
RESULTS
Thirty nine cases of TAC were diagnosed prenatally. Mean gestational age at first diagnosis was 22 weeks (range 13-38). Two cases were lost follow-up. Correct prenatal diagnosis of TAC was made in 87.5% and of TAC subtype in 90.5%. Prenatal diagnosis was incorrect in three cases: one newborn had aortic atresia with ventricular septal defect (VSD) postnatally, one had hypo-plastic right ventricle with dextro transposition of the great arteries (d-TGA) with coarctation of the aorta and a third newborn had tetralogy of fallot (TOF) with abnormal origin of the left pulmonary artery arising from the ascending aorta postnatally. These 3 cases were excluded from further analysis. In 26.5% of cases, TAC was an isolated finding. 38.2% of fetuses had additional chromosomal anomalies. Among them, microdeletion 22q11.2 was most common with a prevalence of 17.6% in our cohort. Another 3 fetuses were highly suspicious for non-chromosomal genetic syndromes due to their additional extra-cardiac anomalies, but molecular diagnosis could not be provided. Major cardiac and extra-cardiac anomalies occurred in between 8.8% and 58.8%, respectively. Predominantly, extra-cardiac anomalies occurred in association with chromosomal anomalies. Additionally, severe IUGR occurred in 17.6%. There were 14 terminations of pregnancy (41.2%), 1 (2.9%) intrauterine fetal death, 5 postnatal deaths (14.7%) and 14 (41.2%) infants were alive at last follow-up. Intention-to-treat survival rate was 70%. Mean follow-up among survivors was 42 months (range 6-104). Postoperative health status among survivors was excellent in 78.6%, but 46.2% needed repeated re-interventions due to recurrent pulmonary artery or conduit stenosis. The other 21.4% of survivors were significantly impaired due to non-cardiac problems.
CONCLUSION
Truncus arteriosus communis is a rare and complex cardiac anomaly that can be diagnosed prenatally with high precision. TAC is frequently associated with chromosomal and extra-cardiac anomalies, leading to a high intrauterine and postnatal loss rate due to terminations and perioperative mortality. Without severe extra-cardiac anomalies, postoperative health status is excellent, independent of the subtype of TAC, but the prevalence of repeated interventions due to recurrent stenosis is high.
Topics: Female; Fetal Death; Fetus; Gestational Age; Heart Defects, Congenital; Humans; Infant; Infant, Newborn; Postoperative Complications; Pregnancy; Prenatal Diagnosis; Retrospective Studies; Thoracic Surgical Procedures; Ultrasonography, Prenatal
PubMed: 34028563
DOI: 10.1007/s00404-021-06067-x -
The Journal of Maternal-fetal &... Dec 2023Prenatal ultrasound has been regularly used as the screening tool for agenesis of corpus callosum (ACC) of the fetuses, which were mainly suspected on the basis of... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Prenatal ultrasound has been regularly used as the screening tool for agenesis of corpus callosum (ACC) of the fetuses, which were mainly suspected on the basis of indirect signs rather than the visualization of the CC. However, the diagnostic accuracy of prenatal ultrasound for ACC, compared to the gold standard of postmortem diagnosis or postnatal images, is still unknown. This meta-analysis was performed to comprehensively evaluate the efficacy of prenatal ultrasound for the diagnosis of ACC.
METHODS
Studies evaluating the diagnostic accuracy of prenatal ultrasound for ACC compared to postmortem diagnosis or postnatal images were retrieved by searching PubMed, Embase, and Web of Science databases. Pooled sensitivity and specificity were calculated with a random-effects model. The diagnostic accuracy was measured by summarized area under the receiver operating characteristic (AUC) curve.
RESULTS
Twelve studies involving 544 fetuses with suspected anomalies of central nervous system were included, and 143 of them were with validated diagnosis of ACC. Pooled results showed that prenatal ultrasound has satisfying diagnostic efficacy for ACC, with the pooled sensitivity, specificity, positive and negative likelihood ratios of 0.72 (95% confidence interval [CI]: 0.39-0.91), 0.98 (95% CI: 0.79-1.00), 43.73 (95% CI: 3.42-558.74, and 0.29 (95% CI: 0.11-0.74), respectively. The pooled AUC was 0.94 (95% CI: 0.92-0.96), suggesting good diagnostic performance of prenatal ultrasound. Subgroup analysis according to the prenatal ultrasound procedures showed a better diagnostic efficacy of neurosonography than that of regular ultrasound screening (sensitivity: 0.84 versus 0.57, specificity: 0.98 versus 0.89, and AUC: 0.97 versus 0.78).
CONCLUSIONS
Prenatal ultrasound, particularly for the neurosonography, confers satisfying efficacy for the diagnosis of ACC.
Topics: Pregnancy; Female; Humans; Agenesis of Corpus Callosum; Prenatal Diagnosis; Ultrasonography, Prenatal; Magnetic Resonance Imaging; Ultrasonography
PubMed: 37365011
DOI: 10.1080/14767058.2023.2228454 -
BMC Pregnancy and Childbirth May 2023Noninvasive prenatal testing (NIPT) is increasingly used in the clinical prenatal screening of twin pregnancies, and its screening performance for chromosomal...
BACKGROUND
Noninvasive prenatal testing (NIPT) is increasingly used in the clinical prenatal screening of twin pregnancies, and its screening performance for chromosomal abnormalities requires further evaluation. For twin pregnancies with indications for prenatal diagnosis, there is a lack of clinical data to assess the prenatal diagnosis rate (PDR). The aim of this study was to evaluate the screening performance of NIPT for foetal chromosomal abnormalities in twin pregnancies and the PDR in the second and third trimesters.
METHODS
Ultrasound scans were carried out for all twin pregnancies between 11 and 13 gestational weeks. For twin pregnancies with nuchal translucency thickness˂3.0 mm and no foetal structural malformations, NIPT was performed after blood sampling, followed by routine ultrasound monitoring. Women with twin pregnancies who underwent NIPT at the prenatal diagnostic centre of Xiangya Hospital from January 2018 to May 2022 were included in the study. Genetic counselling was offered to each pregnant woman when the NIPT result indicated a high risk of abnormalities or abnormal ultrasonographic (USG) findings were detected. We followed up twin pregnancies for NIPT results, USG findings, prenatal diagnosis results and pregnancy outcomes.
RESULTS
In 1754 twin pregnancies, the sensitivity, specificity and positive predictive value of NIPT for trisomy 21 were 100%, 99.9% and 75%, and the corresponding values for sex chromosome aneuploidy (SCA) were 100%, 99.9% and 50%, respectively. For the 14 twin pregnancies for which the NIPT results indicated a high risk of abnormalities, the PDR was 78.6% (11/14). For the 492 twin pregnancies for which the NIPT results indicated a low risk of abnormalities, the rate of USG findings in the second and third trimesters was 39.4% (194/492); of these pregnancies, prenatal diagnosis was recommended for 16.7% (82/492), but it was actually performed in only 8.3% (41/492), and the PDR was 50% (41/82). There was no significant difference in the PDR between the NIPT high-risk and low-risk groups.
CONCLUSIONS
The screening performance of NIPT for SCA in twin pregnancies needs to be further evaluated. When abnormal NIPT results or USG findings are used as the main prenatal diagnostic indicator in the second and third trimesters, the PDR is poor.
Topics: Pregnancy; Female; Humans; Noninvasive Prenatal Testing; Retrospective Studies; Pregnancy, Twin; Trisomy; Prenatal Diagnosis; Chromosome Aberrations; Aneuploidy
PubMed: 37179315
DOI: 10.1186/s12884-023-05642-1 -
Annals of Medicine Dec 2021The aim of this study is to share our experience in the prenatal diagnosis of omphalocele by karyotyping, chromosomal microarray analysis (CMA) and whole exome...
OBJECTIVES
The aim of this study is to share our experience in the prenatal diagnosis of omphalocele by karyotyping, chromosomal microarray analysis (CMA) and whole exome sequencing (WES).
METHODS
In this retrospective study, 81 cases of omphalocele were identified from 2015 to 2020. Associated anomalies and prenatal diagnosis based on karyotyping, CMA and WES were analysed.
RESULTS
Fifty-eight (71.6%) of the 81 foetuses had other ultrasound anomalies. Giant omphalocele was present in 11 cases (13.6%) and small omphalocele was present in 70 cases (86.4%). Chromosomal abnormalities were found in 24 foetuses (29.6%, 24/81), the most common of which were trisomy 18 (58.8%, 11/24) and trisomy 13 (29.2%, 7/24). Compared to isolated omphalocele, non-isolated omphalocele was accompanied by an increased prevalence of chromosomal abnormalities (4.3% (1/23) 39.7% (23/58), = 8.226, = .004). All chromosomal abnormalities were found in small omphalocele. Aside from aneuploidy, CMA showed one pathogenic copy number variants (CNVs) for a detection rate of 1.2%, one variants of unknown significance (VOUS) and one instance of loss of heterozygosity (LOH). WES was performed on 3 non-isolated cases, and one was found to have pathogenic variants.
CONCLUSIONS
The most common genetic cause of omphalocele is aneuploidy and the prevalence of chromosomal abnormalities is increased with non-isolated and small omphalocele. CMA and WES can be useful for providing further genetic information to assist in prenatal counselling and pregnancy management.
Topics: Adult; Aneuploidy; China; Chromosome Aberrations; Chromosome Disorders; Exome; Female; Gestational Age; Hernia, Umbilical; Humans; Karyotyping; Male; Microarray Analysis; Pregnancy; Prenatal Diagnosis; Retrospective Studies; Ultrasonography, Prenatal; Exome Sequencing; Whole Genome Sequencing
PubMed: 34374610
DOI: 10.1080/07853890.2021.1962966 -
Trends in Molecular Medicine Aug 2021To date, prenatal testing has relied on imaging to determine fetal 'form' (anatomy). 'Function', as ascertained by measuring fetal or placental mRNA transcripts in... (Review)
Review
To date, prenatal testing has relied on imaging to determine fetal 'form' (anatomy). 'Function', as ascertained by measuring fetal or placental mRNA transcripts in maternal blood, has the potential to more precisely determine which pregnancies need closer monitoring and which babies should be delivered in special care settings.
Topics: Biomarkers; Cell-Free Nucleic Acids; Embryonic Development; Female; Gene Expression Regulation, Developmental; Humans; Liquid Biopsy; Placenta; Pregnancy; Prenatal Diagnosis
PubMed: 34175229
DOI: 10.1016/j.molmed.2021.06.001 -
Frontiers in Immunology 2020Prenatal Diagnosis (PND) forms an important part of primary preventive management for families having a child affected with primary immunodeficiency. Although... (Review)
Review
Prenatal Diagnosis (PND) forms an important part of primary preventive management for families having a child affected with primary immunodeficiency. Although individually sparse, collectively this group of genetic disorders represents a significant burden of disease. This paper discusses the prenatal services available for affected families at various centers across the country and the challenges and ethical considerations associated with genetic counseling. Mutation detection in the index case and analysis of chorionic villous sampling or amniocentesis remain the preferred procedures for PND and phenotypic analysis of cordocentesis sample is reserved for families with well-characterized index case seeking PND in the latter part of the second trimester of pregnancy. A total of 112 families were provided PND services in the last decade and the presence of an affected fetus was confirmed in 32 families. Post-test genetic counseling enabled the affected families to make an informed decision about the current pregnancy.
Topics: Amniocentesis; Female; Genetic Diseases, Inborn; Genetic Testing; Humans; India; Mutation; Pregnancy; Prenatal Diagnosis; Primary Immunodeficiency Diseases
PubMed: 33365035
DOI: 10.3389/fimmu.2020.612316