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Prenatal Diagnosis Sep 2020Fetal tumors represent an infrequent pathology when compared to congenital malformations, although their true incidence may be underestimated. A variety of benign and... (Review)
Review
Fetal tumors represent an infrequent pathology when compared to congenital malformations, although their true incidence may be underestimated. A variety of benign and malignant neoplasms may occur anywhere in the neural axis. Imaging plays an important role in the fetal tumor diagnosis and evaluation of their resultant complications. Discovery of a fetal mass on obstetric ultrasound necessitates further evaluation with prenatal magnetic resonance imaging (MRI). New MR sequences and new applications of existing techniques have been successfully implemented in prenatal imaging. A detailed assessment may be performed using a variety of MR. Fetal tumors may be histologically benign or malignant, but their prognosis generally remains poor, especially for intracranial lesions. Unfavorable tumor location or heightened metabolic demands on a developing fetus may result in severe complications and a fatal outcome, even in cases of benign lesions. Nowadays, prenatal treatment focuses mainly on alleviation of secondary complications caused by the tumors. In this article we review congenital tumors of the brain, face, and neck encountered in prenatal life, and discuss diagnostic clues for appropriate diagnosis.
Topics: Diagnostic Imaging; Female; Fetal Diseases; Head and Neck Neoplasms; Humans; Magnetic Resonance Imaging; Pregnancy; Prenatal Care; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 32350893
DOI: 10.1002/pd.5722 -
Prenatal Diagnosis May 2022DNA sequencing technologies for clinical genetic testing have been rapidly evolving in recent years, and steadily become more important within the field of prenatal... (Review)
Review
DNA sequencing technologies for clinical genetic testing have been rapidly evolving in recent years, and steadily become more important within the field of prenatal diagnostics. This review aims to give an overview of recent developments and to describe how they have the potential to fill the gaps of the currently clinically implemented methods for prenatal diagnosis of various genetic disorders. It has been shown for postnatal testing that whole genome sequencing provides a set of added benefits compared to exome sequencing, and it is to be expected that this will be the case for prenatal testing as well. RNA-sequencing, already used postnatally, can provide valuable complementary data to DNA-based testing, and aid in variant interpretation. While not ready for clinical implementation, emerging technologies such as long-read and Hi-C sequencing analyses might add to the toolbox for interpreting the expanding genetic data sets generated by genome-wide sequencing. Lastly, we also discuss some more practical implications of introducing these emerging technologies, which generate larger and larger genomic data sets, in the prenatal field.
Topics: Female; Genetic Testing; Humans; Pregnancy; Prenatal Diagnosis; Sequence Analysis, DNA; Sequence Analysis, RNA; Exome Sequencing
PubMed: 35416301
DOI: 10.1002/pd.6146 -
Archives of Gynecology and Obstetrics Mar 2022
Topics: Amniocentesis; COVID-19; Female; Humans; Pandemics; Pregnancy; Prenatal Diagnosis; SARS-CoV-2
PubMed: 34618213
DOI: 10.1007/s00404-021-06276-4 -
Ultrasound in Obstetrics & Gynecology :... Mar 2022
Topics: Female; Hemangioma; Humans; Pregnancy; Prenatal Diagnosis; Ultrasonography, Prenatal; Umbilical Cord
PubMed: 34435409
DOI: 10.1002/uog.24755 -
Ultraschall in Der Medizin (Stuttgart,... Jun 2023Diagnostic puncture (amniocentesis, chorionic villus sampling, and fetal blood sampling) is an essential part of prenatal diagnostics and the only established and... (Review)
Review
Diagnostic puncture (amniocentesis, chorionic villus sampling, and fetal blood sampling) is an essential part of prenatal diagnostics and the only established and sufficiently scientifically evaluated possibility of diagnosing genetic diseases from pregnancy-specific cells. The number of diagnostic punctures in Germany, as in other countries, has fallen significantly. This is largely due to the introduction of first-trimester screening with further detailed ultrasound examination of the fetus and the analysis of cf-DNA (cell-free DNA) from maternal blood (noninvasive prenatal test - NIPT). On the other hand, knowledge about the incidence and appearance of genetic diseases has increased. The development of modern molecular genetic techniques (microarray and exome analysis) makes a differentiated investigation of these diseases increasingly possible. The requirements for education and counseling regarding these complex correlations have thus increased. The studies performed in recent years make it clear that diagnostic puncture performed in expert centers is associated with a low risk of complications. In particular, the procedure-related miscarriage risk hardly differs from the background risk for spontaneous abortion. In 2013, the Section of Gynecology and Obstetrics of the German Society for Ultrasound in Medicine (DEGUM) published recommendations on diagnostic puncture in prenatal medicine 1. The developments described above and new findings in recent years make it necessary to revise and reformulate these recommendations. The aim of this review is to compile important and current facts regarding prenatal medical puncture (including technique, complications, genetic examinations). It is intended to provide basic, comprehensive, and up-to-date information on diagnostic puncture in prenatal medicine. It replaces the publication from 2013 1.
Topics: Pregnancy; Female; Humans; Prenatal Diagnosis; Amniocentesis; Chorionic Villi Sampling; Pregnancy Trimester, First; Genetic Testing
PubMed: 36882109
DOI: 10.1055/a-2014-4505 -
Prenatal Diagnosis Jun 2023Congenital heart defects occur in approximately 1% of liveborn children and represent the most common form of congenital malformation. Due to the small size and... (Review)
Review
Congenital heart defects occur in approximately 1% of liveborn children and represent the most common form of congenital malformation. Due to the small size and complexity of the heart structures, prenatal diagnosis is most often made in the second trimester of pregnancy. Early diagnosis however offers significant advantages regarding the timing of further investigations, prenatal counseling, and access to management options. In the last decade, advances in antenatal imaging have improved the detection of cardiac malformations with increasing emphasis on earlier pregnancy screening and diagnosis. We aim to summarize current "state of the art" imaging of the fetal heart in the first trimester.
Topics: Child; Pregnancy; Female; Humans; Pregnancy Trimester, First; Ultrasonography, Prenatal; Heart Defects, Congenital; Prenatal Diagnosis; Fetal Heart
PubMed: 37271890
DOI: 10.1002/pd.6391 -
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 -
Journal of Obstetric, Gynecologic, and... Sep 2020To map and summarize the literature related to the prenatal diagnosis of agenesis of the corpus callosum (ACC) to inform nursing practice. (Review)
Review
OBJECTIVE
To map and summarize the literature related to the prenatal diagnosis of agenesis of the corpus callosum (ACC) to inform nursing practice.
DATA SOURCES
We searched MEDLINE, CINAHL, PyscINFO, and Academic Search Complete with the use of strings of curated terms to cover the broad ACC nomenclature. Documents were published in English between 2009 and June 1, 2020. We also hand searched the reference lists of included documents.
STUDY SELECTION
We screened 582 abstracts and retrieved the full texts of primary research articles, reviews, discussion papers, and peer-reviewed book chapters if the abstracts specifically mentioned ACC and the prenatal period. We excluded case reports, conference and poster abstracts, papers on broader anomalies, and animal studies. We reviewed 84 full-text documents and identified 61 for inclusion.
DATA EXTRACTION
We charted the data through an iterative process under headings for location, article type, study design, participant age, ACC type, recruitment, method, tools/assessments, results, key recommendations, gestational age at diagnosis, termination of pregnancy rate, the definition of isolated ACC, and our notes of critique of the document.
DATA SYNTHESIS
We constructed a narrative synthesis from thematically arranged data. In the included documents, ACC was diagnosed between 17 and 38 weeks gestation and was frequently described as heterogeneous because of different causes, presentations, and outcomes. Whether the ACC was isolated as the only anomaly or present with other anomalies was considered the key factor for prenatal counseling. However, the definition of isolated ACC was inconsistent.
CONCLUSION
The inconsistent nomenclature and definitions of an isolated presentation of ACC increase the ambiguity in the prenatal diagnosis and must be considered when the outcome and diagnostic efficacy studies are interpreted. There is an absence of research on parents' experiences of prenatal diagnoses of ACC to inform holistic nursing interventions and the provision of psychosocial support.
Topics: Agenesis of Corpus Callosum; Corpus Callosum; Female; Humans; Pregnancy; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 32687791
DOI: 10.1016/j.jogn.2020.06.003 -
Journal of Ultrasound in Medicine :... Nov 2022To assess the diagnostic accuracy of prenatal ultrasound in detecting intra-abdominal masses derived from different systems.
OBJECTIVES
To assess the diagnostic accuracy of prenatal ultrasound in detecting intra-abdominal masses derived from different systems.
METHODS
Fetuses diagnosed with abdominal cystic masses during prenatal ultrasound were included in this study. The basic biological parameters of the fetus were measured in addition to the location of the cystic mass, the shape and size of the mass, the thickness of the cystic wall, dynamic changes, blood supply of the mass, and relationship with the surrounding organs. Whether the fetus also had other malformations was also recorded. Clinical data were followed up to 6 months after birth.
RESULTS
Between January 1, 2019 and January 1, 2021, 247 fetuses were included, most of which contained renal/adrenal cystic masses (n = 93, 37.7%), followed by hepatobiliary system (n = 48, 19.4%), gastrointestinal tract (n = 45, 18.2%), reproductive system (n = 29, 11.7%), and ureter and bladder (n = 27, 10.9%) masses, respectively. The minority were masses in other systems (n = 5, 2.0%). The overall prenatal diagnostic accuracy was 90.7%. There were significant differences in each system (χ = 13.0, P < .05). The most accurate type of cyst was diagnosed from renal and adrenal (96.8%) cases, followed by ureter and bladder (92.6%) cases, gastrointestinal tract (91.1%), hepatobiliary system (85.4%), and reproductive system (82.8%). Other systems (60.0%) were the least accurate type.
CONCLUSIONS
A wide variety of cystic masses can be accurately detected in the fetal abdomen, and most of these lesions can be accurately diagnosed during pregnancy.
Topics: Pregnancy; Female; Humans; Fetal Diseases; Retrospective Studies; Prenatal Diagnosis; Fetus; Cysts; Ultrasonography, Prenatal
PubMed: 35170798
DOI: 10.1002/jum.15963 -
Prenatal Diagnosis Nov 2022To present both our center's and previously reported experience of prenatal diagnosis of Coffin-Siris syndrome (CSS) with regard to the laboratory testing and fetal...
OBJECTIVE
To present both our center's and previously reported experience of prenatal diagnosis of Coffin-Siris syndrome (CSS) with regard to the laboratory testing and fetal features of this syndrome.
METHODS
This was a retrospective study of eight pregnancies with fetal CSS identified by prenatal or postnatal genetic testing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, chromosomal microarray and exome sequencing (ES) results, and pregnancy outcomes.
RESULTS
A total of eight cases of fetal CSS based on molecular testing were detected. Two cases presented with an increased nuchal translucency (NT) in the first trimester. The remaining six were identified at the second trimester scan. Agenesis of the corpus callosum (ACC) was the most common sonographic finding, accounting for 5/7 (71.4%) cases in which a second trimester sonogram was performed: four had ACC as an isolated finding, and one had additional features of cerebellar hypoplasia and left congenital diaphragmatic hernia.
CONCLUSION
CSS should be included in the differential diagnosis when ACC is found by prenatal ultrasound. Both chromosomal microarray and ES should be options when counseling patients with a structurally anomalous fetus.
Topics: Pregnancy; Female; Humans; Retrospective Studies; Prenatal Diagnosis; Abnormalities, Multiple; Ultrasonography, Prenatal; Pregnancy Trimester, First; Fetus; Agenesis of Corpus Callosum; Hernias, Diaphragmatic, Congenital; Nuchal Translucency Measurement
PubMed: 35801292
DOI: 10.1002/pd.6213