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Medicine Dec 2023Intrauterine microcephaly is a complex and lifelong condition that poses significant ethical challenges for clinicians and parents. The prognosis of microcephaly is...
INTRODUCTION
Intrauterine microcephaly is a complex and lifelong condition that poses significant ethical challenges for clinicians and parents. The prognosis of microcephaly is highly variable and depends on the underlying cause and severity. In addition, microcephaly is often associated with various comorbidities, including intellectual disability, developmental delay, and epilepsy. Ultrasonography (US) is currently the most commonly used imaging modality for detecting microcephaly in the second trimester of pregnancy. However, antenatal brain magnetic resonance imaging (MRI) is increasingly being used as a more sensitive tool to identify structural abnormalities that may suggest a specific diagnosis. In this study, we report a case series of microcephaly diagnosed through the combination of MRI and US.
PATIENT CONCERNS
How to utilize a combination of MRI and US to screen for fetal microcephaly.
DIAGNOSIS
Based on the results of US and MRI examinations, patient 1 was found to have other craniocerebral malformations, patient 2 demonstrated macrogyria, and patient 3 exhibited skull irregularities.
INTERVENTIONS
The pregnancies of all 3 patients were terminated through the induction of labor by injecting Rivanol into the amniotic cavity.
OUTCOMES
The 3 patients were discharged after a period of observation.
CONCLUSION
US is an important tool for diagnosing fetal microcephaly. However, MRI can overcome the limitations of US and detect additional brain structural abnormalities, thereby providing more specific and valuable prenatal diagnostic information. Therefore, combining MRI and US has significant diagnostic value for fetal microcephaly.
Topics: Humans; Pregnancy; Female; Microcephaly; Ultrasonography, Prenatal; Prenatal Diagnosis; Nervous System Malformations; Magnetic Resonance Imaging; Ultrasonography
PubMed: 38115306
DOI: 10.1097/MD.0000000000036623 -
Journal of Clinical Ultrasound : JCU Sep 2023To investigate the clinical value of prenatal ultrasound in the diagnosis of the common arterial trunk (CAT) classification and associated malformations.
OBJECTIVES
To investigate the clinical value of prenatal ultrasound in the diagnosis of the common arterial trunk (CAT) classification and associated malformations.
MATERIALS AND METHODS
The 2D ultrasound images, spatiotemporal image correlations (STICs) and clinical data of 88 fetuses diagnosed with CAT malformations by prenatal ultrasound were retrospectively analyzed and classified. The correlation between different types, fetal malformation and pregnancy outcomes were analyzed.
RESULTS
Among the 88 fetuses, there were 39 cases (44.32%) of type A1, 40 cases (45.45%) of type A2, 8 cases (9.09%) of type A3, and 1 case of type A4 (1.14%). There were 16 cases (18.18%) with isolated CAT, 48 cases (54.55%) with complex intra-cardiac structural abnormalities, and 24 cases (27.27%) with intra-cardiac and extra-cardiac structural abnormalities. In extra-cardiac structural malformations, 14 cases were associated with 1 other system abnormality, 4 cases with 2 other system abnormalities, 3 cases with 3 other system abnormalities, while 3 cases were combined with 4 other system abnormalities, among which the facial and physical abnormalities had the highest incidence (39.13%). The STIC images were completely displayed in all 88 cases. There was a statistical difference between isolated CAT and CAT combined with other abnormalities in fetal pregnancy outcomes.
CONCLUSIONS
Prenatal ultrasound had a high clinical application value in CAT classification. Pregnancy outcomes were highly correlated with the classification and associated intra-cardiac and extra-cardiac structural malformations. The early evaluation of fetal prognosis before birth has important value for clinical intervention.
Topics: Pregnancy; Female; Humans; Ultrasonography, Prenatal; Retrospective Studies; Pregnancy Outcome; Prenatal Diagnosis
PubMed: 37427810
DOI: 10.1002/jcu.23518 -
Hemoglobin Nov 2023Thalassemia is a genetic disease that seriously affects the health of the fetus. At present, invasive prenatal diagnosis is the main method of thalassemia screening, but... (Review)
Review
Thalassemia is a genetic disease that seriously affects the health of the fetus. At present, invasive prenatal diagnosis is the main method of thalassemia screening, but invasive prenatal diagnosis has the risk of fetal abortion. The discovery of cell-free fetal DNA (cffDNA) in the peripheral blood of pregnant women provides the possibility for non-invasive prenatal diagnosis (NIPD). Rapid and efficient capture of mutational information on cffDNA in maternal plasma can help prevent the birth of children with thalassemia major. Currently, strategies for cffDNA-based NIPD of thalassemia include the detection of paternal mutations in maternal plasma, detection of a proportion of wild and mutant alleles in maternal plasma, linkage disequilibrium single nucleotide polymorphism (SNP) based on pedigree probands, and prediction of fetal genotypes by bioinformatics combined with population information. Therefore, this paper will focus on the above aspects, in order to provide an essential reference to the prevention and treatment of thalassemia.
Topics: Child; Pregnancy; Humans; Female; Cell-Free Nucleic Acids; DNA; Prenatal Diagnosis; Fetus; beta-Thalassemia
PubMed: 37247204
DOI: 10.1080/03630269.2023.2215446 -
The Journal of Maternal-fetal &... Dec 2023Accurate prenatal diagnosis of congenital duodenal obstruction (CDO) is challenging. We aimed to determine new ultrasound metrics for accurate prenatal diagnosis of...
OBJECTIVE
Accurate prenatal diagnosis of congenital duodenal obstruction (CDO) is challenging. We aimed to determine new ultrasound metrics for accurate prenatal diagnosis of fetal CDO.
METHODS
Data pertaining to 46 fetuses with suspected small intestinal obstruction (26 CDO; 16 high jejunal obstructions) were retrospectively analyzed. Prenatal ultrasonographic features including dilated intestinal length, stomach length, maximum intestinal dilatation, ratio of dilated intestinal length at late gestation and dilated stomach length (I/S ratio), and location of distal end of dilated bowel segment relative to spine were compared between CDO and high jejunal obstruction groups. The diagnostic performance of ultrasound indices was evaluated using receiver operating characteristics curve analysis.
RESULTS
In 25 out of 26 CDO cases, the distal end of the dilated small intestine segment was located on the right side of spine, while that in the high jejunal obstruction group was located on the left side of spine. The dilated intestinal length and I/S ratio in CDO group were significantly smaller than those in high jejunal obstruction group ( < .05). Dilated intestinal length <51 mm or I/S ratio <1 showed high sensitivity (100, 100%) and specificity (96.1, 92.3%) for CDO (area under the curve: 0.995 and 0.988, respectively). There were no significant differences in the AUCs of dilated intestinal length and I/S ratio. Significant correlation of the site of obstruction in CDO with fetal dilated intestinal length and I/S ratio ( = 0.686; 0.660, < .001, respectively) were noted.
CONCLUSION
Location of the distal end of the dilated small intestine segment relative to the spine, dilated intestinal length, and I/S ratio may help differentiate fetal CDO from high jejunal obstruction. The latter two metrics were associated with the site of obstruction in CDO patients.
Topics: Female; Humans; Pregnancy; Duodenal Obstruction; Retrospective Studies; Ultrasonography, Prenatal; Prenatal Diagnosis; Intestine, Small
PubMed: 36726301
DOI: 10.1080/14767058.2023.2167072 -
BMC Medical Ethics Oct 2023The introduction and wide application of non-invasive prenatal testing (NIPT) has triggered further evolution of routines in the practice of prenatal diagnosis....
BACKGROUND
The introduction and wide application of non-invasive prenatal testing (NIPT) has triggered further evolution of routines in the practice of prenatal diagnosis. 'Routinization' of prenatal diagnosis however has been associated with hampered informed choice and eugenic attitudes or outcomes. It is viewed, at least in some countries, with great suspicion in both bioethics and public discourse. However, it is a heterogeneous phenomenon that needs to be scrutinized in the wider context of social practices of reproductive genetics. In different countries with their different regulatory frameworks, different patterns of routines emerge that have different ethical implications. This paper discusses an ethics of routines informed by the perspectives of organizational sociology and psychology, where a routine is defined as a repetitive, recognizable pattern of interdependent organizational actions that is carried out by multiple performers. We favour a process approach that debunks the view - which gives way to most of the concerns - that routines are always blindly performed. If this is so, routines are therefore not necessarily incompatible with responsible decision-making. Free and informed decision-making can, as we argue, be a key criterion for the ethical evaluation of testing routines. If free and informed decision-making by each pregnant woman is the objective, routines in prenatal testing may not be ethically problematic, but rather are defensible and helpful. We compare recent experiences of NIPT routines in the context of prenatal screening programmes in Germany, Israel and the Netherlands. Notable variation can be observed between these three countries (i) in the levels of routinization around NIPT, (ii) in the scope of routinization, and (iii) in public attitudes toward routinized prenatal testing.
CONCLUSION
An ethics of routines in the field of prenatal diagnostics should incorporate and work with the necessary distinctions between levels and forms of routines, in order to develop sound criteria for their evaluation.
Topics: Pregnancy; Female; Humans; Genetic Testing; Prenatal Diagnosis; Pregnant Women; Attitude; Reproduction
PubMed: 37884894
DOI: 10.1186/s12910-023-00970-5 -
NeoReviews Mar 2024
Topics: Pregnancy; Female; Humans; Prenatal Diagnosis; Duodenal Obstruction; Intestinal Atresia
PubMed: 38425202
DOI: 10.1542/neo.25-3-e180 -
Prenatal and postnatal genetic testing toward personalized care: The non-invasive perinatal testing.Molecular and Cellular Probes Dec 2023This article investigates how non-invasive prenatal testing and the incorporation of genomic sequencing into newborn screening postnatally are transforming perinatal... (Review)
Review
This article investigates how non-invasive prenatal testing and the incorporation of genomic sequencing into newborn screening postnatally are transforming perinatal care. They improve the accuracy of prenatal and neonatal screening, allowing for early interventions and personalized therapies. Non-invasive prenatal testing before birth and saliva-sample-based newborn genomic sequencing after birth can be collectively referred to as non-invasive perinatal testing. Non-invasive prenatal testing is particularly useful for aneuploidy, whereas performance markers worsen as DNA abnormalities shrink in size. Screening for clinically actionable diseases in childhood would be crucial to personalized medical therapy, as the postnatal period remains appropriate for screening for the great majority of monogenic disorders. While genomic data can help diagnose uncommon diseases, challenges like ethics and equity necessitate joint approaches for appropriate integration in this revolutionary journey toward personalized care.
Topics: Pregnancy; Female; Infant, Newborn; Humans; Prenatal Diagnosis; Genetic Testing; Aneuploidy
PubMed: 37951513
DOI: 10.1016/j.mcp.2023.101942 -
Revista Colombiana de Obstetricia Y... Sep 2023To report a case of prenatal diagnosis of ectopic intrathoracic kidney with diaphragmatic hernia managed surgically after birth, and to conduct a review of the...
OBJECTIVES
To report a case of prenatal diagnosis of ectopic intrathoracic kidney with diaphragmatic hernia managed surgically after birth, and to conduct a review of the literature on prenatal diagnosis of ectopic intrathoracic kidney and perinatal prognosis.
MATERIAL AND METHODS
We report the case of a 28-week fetus in which, on ultrasound imaging, a mass was observed displacing the heart and lung in the right hemithorax, which was was confirmed by magnetic resonance (MR) to be an ectopic intrathoracic kidney (ITEK). After birth, the neonate was approached by laparoscopy to place a mesh in continuity with the diaphragm, leaving the kidney in the abdomen, with good evolution. A search was conducted in the PubMed, Embase and Cochrane databases for cohorts, case reports and case series of prenatal diagnosis of intrathoracic kidney in the fetus. Information was retrieved regarding design, population, imaging diagnosis, treatment and prognosis.
RESULTS
The search identified 8 studies that met the inclusion criteria, reporting a total of 8 cases. Ultrasound diagnosis showed ectopic intrathoracic kidney associated with diaphragmatic hernia in all the subjects. Fetal magnetic resonance imaging (MRI) was also used in 5 cases.
CONCLUSIONS
Ectopic intrathoracic kidney is a congenital abnormality amenable to prenatal diagnosis. Survival after corrective surgery performed in the neonatal period is common. There is a paucity of publications, limited to case reports, regarding the prenatal diagnosis of this condition.
Topics: Pregnancy; Infant, Newborn; Female; Humans; Prenatal Diagnosis; Hernia, Diaphragmatic; Hernia; Kidney
PubMed: 37937910
DOI: 10.18597/rcog.4020 -
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 -
The Journal of Maternal-fetal &... Dec 2023This study aimed to analyze prenatal diagnosis, perinatal outcomes, and postnatal follow-up in fetuses with ectopia cordis (EC).
OBJECTIVE
This study aimed to analyze prenatal diagnosis, perinatal outcomes, and postnatal follow-up in fetuses with ectopia cordis (EC).
METHODS
This retrospective analysis accessed 31 patients with EC who were either diagnosed or referred to a tertiary Fetal Medicine centers for EC diagnosis in Brazil, Germany, Italy, and Poland. We analyzed prenatal diagnosis, perinatal outcomes, and follow-up in these patients.
RESULTS
Our study included a cohort of 31 fetuses with EC, 4 and 27 of whom had partial and complete protrusion of the heart through a ventral defect in the thoracoabdominal wall, respectively. EC was diagnosed by fetal echocardiography at a mean gestational age of 20.3 ± 8.6 weeks (range, 8-35 weeks). Of the four cases, in which the karyotype was performed, all of them had a normal result (1 - 46,XX and 3 - 46,XY). Five patients showed conotruncal abnormalities and six ventricular septal defects. Termination of pregnancy (TOP) was performed in 15 cases (48%) and seven pregnant women had spontaneous fetal demise (22.5%). Of the seven fetuses that were born alive, four of them died, and three infants underwent surgery. Among these three infants, all of them survived, one was 5 months, 13 years old and 29 years old at the time of study completion.
CONCLUSIONS
Ectopia cordis is associated with high mortality rates and intracardiac/extra-cardiac defects. Ventricular septal defects and conotruncal anomalies were the more common intracardiac defects associated with EC. However, in this cohort of fetuses with EC the incidence of PC was lower than reported in the literature.
Topics: Infant; Humans; Pregnancy; Female; Adolescent; Ectopia Cordis; Retrospective Studies; Follow-Up Studies; Ultrasonography, Prenatal; Prenatal Diagnosis; Heart Defects, Congenital; Heart Septal Defects, Ventricular
PubMed: 37080921
DOI: 10.1080/14767058.2023.2203791