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Pediatric Research Nov 2019Congenital anomalies cause ~7% of all neonatal deaths, many of which have no identified pathophysiological cause. Because accurate and robust laboratory tests are... (Review)
Review
Congenital anomalies cause ~7% of all neonatal deaths, many of which have no identified pathophysiological cause. Because accurate and robust laboratory tests are unavailable for most birth defects, physicians rely on imaging such as ultrasound and MRI. Biomarkers from human body fluids are considered a powerful diagnostic tool to assess human disease and health as it mirrors an individual's condition. Minimally invasive 'liquid biopsies' from blood samples are highly valuable for diagnosis, prognosis, risk assessment, and treatment of many conditions. Recent large-scale analysis ('omics') have enabled researchers to identify novel biomarkers in different areas. To accurately facilitate the early detection of congenital anomalies, the identification of biomarkers from maternal plasma should be promoted. This approach will uncover new opportunities in prenatal diagnosing and likely lead to a better understanding of the pathogenesis of congenital anomalies.
Topics: Biomarkers; Body Fluids; Congenital Abnormalities; Female; Humans; Pregnancy; Prenatal Diagnosis
PubMed: 31091529
DOI: 10.1038/s41390-019-0429-1 -
Prenatal Diagnosis Jun 2024Congenital heart defects (CHD) are the most common birth defect and a leading cause of infant morbidity and mortality. CHD often occurs in low-risk pregnant patients,... (Review)
Review
Congenital heart defects (CHD) are the most common birth defect and a leading cause of infant morbidity and mortality. CHD often occurs in low-risk pregnant patients, which underscores the importance of routine fetal cardiac screening at the time of the 2nd trimester ultrasound. Prenatal diagnosis of CHD is important for counseling and decision-making, focused diagnostic testing, and optimal perinatal and delivery management. As a result, prenatal diagnosis has led to improved neonatal and infant outcomes. Updated fetal cardiac screening guidelines, coupled with technological advancements and educational efforts, have resulted in increased prenatal detection of CHD in both low- and high-risk populations. However, room for improvement remains. In recent years, fetal cardiac screening for specific high-risk populations has started in the 1st trimester, which is a trend that is likely to expand over time. This review discusses fetal cardiac screening throughout pregnancy.
Topics: Humans; Pregnancy; Female; Heart Defects, Congenital; Pregnancy Trimester, First; Ultrasonography, Prenatal; Fetal Heart; Prenatal Diagnosis
PubMed: 38613152
DOI: 10.1002/pd.6571 -
Medicina (Kaunas, Lithuania) Oct 2022Sophisticated screening protocols for genetic abnormalities constitute an important component of current prenatal care, aiming to identify high-risk pregnancies and... (Review)
Review
Sophisticated screening protocols for genetic abnormalities constitute an important component of current prenatal care, aiming to identify high-risk pregnancies and offer appropriate counseling to parents regarding their options. Definite prenatal diagnosis is only possible by invasive prenatal diagnostic testing (IPDT), mainly including amniocentesis and chorionic villous sampling (CVS). The aim of this comparative review was to summarize and compare the existing recommendations on IPDT from the most influential guidelines. All the reviewed guidelines highlight that IPDT is indicated based on a positive screening test rather than maternal age alone. Other indications arise from medical history and sonography, with significant variations identified between the guidelines. The earlier time for amniocentesis is unequivocally set at ≥15 gestational weeks, whereas for CVS, the earlier limit varies from ≥10 to ≥11 weeks. Certain technical aspects and the overall approach demonstrate significant differences. Periprocedural management regarding Rhesus alloimmunization, virologic status and use of anesthesia or antibiotics are either inconsistent or insufficiently addressed. The synthesis of an evidence-based algorithm for IPDT is of crucial importance to healthcare professionals implicated in prenatal care to avoid unnecessary interventions without compromising optimal prenatal care.
Topics: Pregnancy; Humans; Female; Chorionic Villi Sampling; Amniocentesis; Aneuploidy; Prenatal Diagnosis; Maternal Age
PubMed: 36295632
DOI: 10.3390/medicina58101472 -
Fetal Diagnosis and Therapy 2023Early identification of fetal sex is possible due to both improved ultrasound resolution and the incorporation of cell-free DNA testing into routine prenatal screening... (Review)
Review
Early identification of fetal sex is possible due to both improved ultrasound resolution and the incorporation of cell-free DNA testing into routine prenatal screening services. While ultrasound assessment of the external genitalia generally suffices, there are instances where identification of the internal genitalia becomes vital to allow accurate prenatal diagnosis and comprehensive counseling. This manuscript outlines the methodology and clinical utility of assessing fetal genitalia beyond conventional sonography from the second trimester onward and is the first to describe direct visualization of the fetal vagina.
Topics: Pregnancy; Female; Humans; Ultrasonography, Prenatal; Ultrasonography; Pregnancy Trimester, Second; Vagina; Prenatal Diagnosis
PubMed: 36746126
DOI: 10.1159/000529505 -
The Journal of Maternal-fetal &... Dec 2022To investigate the efficiency of the upgraded noninvasive prenatal test (NIPT-Plus) in fetuses with increased nuchal translucency (NT).
OBJECTIVES
To investigate the efficiency of the upgraded noninvasive prenatal test (NIPT-Plus) in fetuses with increased nuchal translucency (NT).
METHODS
Fetuses with an increased NT at or above 2.5 mm were selected for prenatal diagnosis. Amniotic fluid was collected from all cases for karyotype analysis and copy number variation sequencing (CNV-seq), and cell-free fetal DNA (cfDNA) in maternal blood was tested using Noninvasive Prenatal Test (NIPT-Plus) before amniocentesis in some cases. The results of amniocentesis with different NT thicknesses were analyzed and compared with those of NIPT-Plus.
RESULTS
A total of 125 eligible patients were divided into group A (2.5 mm ≤ NT < 3.0 mm) and group B (NT ≥ 3.0 mm). In group A, the detection rate of chromosomal aneuploidy and pathogenic copy number variation (CNV) was 10.6% and 6.4%, respectively. The total chromosome abnormality rate in group B (34.7%) was significantly higher than that in group A (17%). In 72 patients who underwent NIPT-Plus and amniocentesis, chromosomal aneuploidy accounted for 80.8% of the total chromosomal abnormalities. Among 21 cases of chromosomal aneuploidy, NIPT-Plus detected 20 cases. The sensitivity and specificity of NIPT-Plus toward aneuploidy detection were 95.2% and 100%, respectively. Among the five cases of pathogenic CNV, only two were detected using NIPT-Plus.
CONCLUSION
NIPT-plus is recommended as the first choice for fetal diagnosis in pregnant women with 2.5 mm ≤ NT < 3.0 mm who do not accept invasive prenatal diagnosis. When NT ≥ 3.0 mm and NIPT-Plus detects chromosomal aneuploidy, a rapid prenatal diagnosis can be performed through amniocentesis. In cases where NIPT-Plus yields negative results, amniocentesis still needs to be performed to detect chromosome microdeletions/duplications in order to avoid a missed diagnosis.
Topics: Humans; Female; Pregnancy; Nuchal Translucency Measurement; DNA Copy Number Variations; Prenatal Diagnosis; Aneuploidy; Fetus; Chromosome Aberrations; Cell-Free Nucleic Acids
PubMed: 34649482
DOI: 10.1080/14767058.2021.1909564 -
Journal of Ultrasound in Medicine :... Aug 2023Ultrasound screening during early pregnancy is vital in preventing congenital disabilities. For example, nuchal translucency (NT) thickening is associated with fetal... (Review)
Review
OBJECTIVES
Ultrasound screening during early pregnancy is vital in preventing congenital disabilities. For example, nuchal translucency (NT) thickening is associated with fetal chromosomal abnormalities, particularly trisomy 21 and fetal heart malformations. Obtaining accurate ultrasound standard planes of a fetal face during early pregnancy is the key to subsequent biometry and disease diagnosis. Therefore, we propose a lightweight target detection network for early pregnancy fetal facial ultrasound standard plane recognition and quality assessment.
METHODS
First, a clinical control protocol was developed by ultrasound experts. Second, we constructed a YOLOv4 target detection algorithm based on the backbone network as GhostNet and added attention mechanisms CBAM and CA to the backbone and neck structure. Finally, key anatomical structures in the image were automatically scored according to a clinical control protocol to determine whether they were standard planes.
RESULTS
We reviewed other detection techniques and found that the proposed method performed well. The average recognition accuracy for six structures was 94.16%, the detection speed was 51 FPS, and the model size was 43.2 MB, and a reduction of 83% compared with the original YOLOv4 model was obtained. The precision for the standard median sagittal plane was 97.20%, and the accuracy for the standard retro-nasal triangle view was 99.07%.
CONCLUSIONS
The proposed method can better identify standard or non-standard planes from ultrasound image data, providing a theoretical basis for automatic acquisition of standard planes in the prenatal diagnosis of early pregnancy fetuses.
Topics: Pregnancy; Female; Humans; Ultrasonography, Prenatal; Prenatal Diagnosis; Nuchal Translucency Measurement; Fetus; Algorithms; Pregnancy Trimester, First
PubMed: 36896480
DOI: 10.1002/jum.16209 -
Zhonghua Yi Xue Yi Chuan Xue Za Zhi =... Jul 2021To analyze the prenatal diagnosis, parental verification and pregnancy outcome of 6 fetuses with 22q11.2 microdeletion syndrome.
OBJECTIVE
To analyze the prenatal diagnosis, parental verification and pregnancy outcome of 6 fetuses with 22q11.2 microdeletion syndrome.
METHODS
Copy number variation sequencing (CNV-seq)and chromosomal microarray analysis (CMA) were carried out for the fetuses.
RESULTS
The fetuses were found to harbor 2.54-3.2 Mb microdeletions of the 22q11.2 region, among which one was maternally inherited and one was paternally inherited. Two parents opted to continue with the pregnancy, and 4 chose induced labor. One fetus was found to have tetralogy of Fallot, while two carrier parents and one fetus appeared to have normal phenotype.
CONCLUSION
22q11.2 microdeletions identified upon prenatal diagnosis should be treated carefully, with ultrasonic scan and parental verification taken into account.
Topics: DNA Copy Number Variations; Female; Fetus; Humans; Microarray Analysis; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 34247372
DOI: 10.3760/cma.j.cn511374-20200402-00234 -
Reproductive Sciences (Thousand Oaks,... Dec 2023Diastematomyelia is a type of closed spinal dysraphism in which there is splitting of the spinal cord. It is a rare entity that accounts for less than 3% of closed... (Review)
Review
Diastematomyelia is a type of closed spinal dysraphism in which there is splitting of the spinal cord. It is a rare entity that accounts for less than 3% of closed spinal dysraphisms and affects females 1.3 to 6 times more frequently than males. Lesions are usually found in the lower thoracic and upper lumbar regions. It is characterised by two hemicords separated by a bony or cartilaginous spur. In most cases, it is an isolated malformation with a favourable prognosis. However, it may be associated with other abnormalities and sonography is the imaging test par excellence for early prenatal diagnosis. We report a case of diastematomyelia diagnosed by prenatal sonography at 24 weeks' gestation. Amniotic fluid alpha-fetoprotein (AF-AFP) was normal, while amniotic fluid acetylcholinesterase (AF-AChE) was positive. After birth, the diagnosis was confirmed with magnetic resonance imaging (MRI). The anomaly was associated with a spinal lipoma, tethered cord and dermal sinus. A review of all the cases described in the literature to date is carried out.
Topics: Pregnancy; Male; Female; Humans; Acetylcholinesterase; Prenatal Diagnosis; Neural Tube Defects; Ultrasonography, Prenatal; Spinal Cord; Magnetic Resonance Imaging
PubMed: 37491555
DOI: 10.1007/s43032-023-01307-8 -
Ultrasound in Obstetrics & Gynecology :... Sep 2022
Topics: Congenital Abnormalities; Female; Humans; Pregnancy; Prenatal Care; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 36047740
DOI: 10.1002/uog.26040 -
Pediatric Radiology Nov 2020Skeletal dysplasias have been recognised since recorded history began. The advent of radiography at the beginning of the 20th century and the subsequent introduction of... (Review)
Review
Skeletal dysplasias have been recognised since recorded history began. The advent of radiography at the beginning of the 20th century and the subsequent introduction of departments of radiology have had tremendous impact and allowed conditions to be identified by their specific radiographic phenotypes. This has been enhanced by the addition of cross-sectional modalities (ultrasound, computed tomography and magnetic resonance imaging), which have allowed for prenatal recognition and diagnosis of skeletal dysplasias, and by the recent explosion in identified genes. There are more than 400 recognised skeletal dysplasias, many of which (due to their rarity) the practising clinician (radiologist, paediatrician, geneticist) may never come across. This article provides a historical overview of aids to the radiologic diagnosis of skeletal dysplasias.
Topics: Bone Diseases, Developmental; Bone and Bones; Diagnostic Imaging; Female; Humans; Pregnancy; Prenatal Diagnosis
PubMed: 33135135
DOI: 10.1007/s00247-019-04533-y