First trimester genetic sonogram for screening fetal Down syndrome: A population-based study

Traisrisilp, Kuntharee; Sirichotiyakul, Supatra; Tongprasert, Fuanglada; Srisupundit, Kasemsri; Luewan, Suchaya; Jatavan, Phudit; Sirilert, Sirinart; Tongsong, Theera

doi:10.1016/j.tjog.2021.05.021

Cited by 4 publications

(3 citation statements)

References 21 publications

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“…DS is caused by the trisomy of chromosome 21, and most patients display a particular phenotype during development [34], indicating that it may be more meaningful to study the molecular mechanisms underlying DS during the fetal period. Owing to ethical restrictions, we were unable to obtain embryos with DS for research.…”

Section: Discussionmentioning

confidence: 99%

The Wnt/β-catenin pathway maintains homeostasis of amniocytes in Down syndrome

Chen,

Lin,

Chen

et al. 2024

Preprint

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Background Down syndrome (DS), which is caused by partial or complete triplication of chromosome 21, may cause a range of clinical features. Although most fetuses with DS exhibit typical characteristics, the molecular pathogenesis underlying DS remains unclear. Wnt signaling is known to play a crucial role in fetal growth and development. However, the link between Wnt signaling and the abnormal development of fetuses with DS remains poorly understood. In this study, our objective was to investigate the dysregulation of Wnt signaling in the amniocytes of fetuses diagnosed with DS. To this end, we determined β-catenin protein expression, oxidative stress, cell proliferation, and apoptosis in amniocytes from fetuses diagnosed with DS. Subsequently, we upregulated the Wnt/β-catenin pathway components in amniocytes from fetuses diagnosed with DS and detected the expression of related proteins. Results We found that downregulating the Wnt/β-catenin pathway components decreased cell proliferation while increasing oxidative stress and apoptosis in the amniocytes derived from fetuses diagnosed with DS compared with those seen in normal fetal amniocytes. In contrast, upregulating the Wnt/β-catenin pathway components in DS amniocytes increased cell proliferation and decreased oxidative stress and apoptosis, resulting in improved cell growth. Conclusions The Wnt/β-catenin pathway may maintain homeostasis in DS amniocytes and normalize cell growth to levels similar to those in normal cells. These findings reveal a novel molecular mechanism underlying the abnormal regulation of Wnt/β-catenin signaling during the development of fetuses with DS, thereby suggesting potential targeted therapies for DS.

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Section: Discussionmentioning

confidence: 99%

The Wnt/β-catenin pathway maintains homeostasis of amniocytes in Down syndrome

Chen,

Lin,

Chen

et al. 2024

Preprint

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“…Trisomy 13 is associated with numerous congenital anomalies in the central nervous system (holoprosencephaly), at the craniofacial level (cleft lift and palate), and urogenital malformations (polycystic kidney) [ 43 , 46 , 47 ]. Trisomy 18 can affect several organs and systems, namely with growth anomalies, malformations of the skull and face (enlarged fontanels, microcephaly, triangular face shape, prominent occiput), the thorax and abdomen (short neck and sternum, umbilical or inguinal hernia), genital system (cryptorchidism, clitoral hypertrophy), extremities (clenched hands with overlapping fingers, rocker-bottom foot), central nervous system malformations (cerebellar hypoplasia, hydrocephalus, facial palsy) and cardiac anomalies, often in multiple forms (ventricular septal defects, patent ductus arteriosus) [ 48 ]. The same is not valid for trisomy 21, whose diagnosis in this period is much more difficult due to the absence of major characteristic malformations in more than 50% of cases [ 43 ].…”

Section: Tricuspid Valvementioning

confidence: 99%

First Trimester Tricuspid Regurgitation: Clinical Significance

Teixeira

Guedes-Martins

2023

CCR

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Tricuspid regurgitation is a cardiac valvular anomaly that consists of the return of blood to the right atrium during systole due to incomplete valve closure. This structure can be visualized on ultrasound between 11 and 14 weeks of gestation in most cases. Despite being a common finding, even in healthy fetuses, the presence of tricuspid regurgitation may be associated with chromosomal and structural abnormalities. The evaluation of tricuspid flow and the presence of regurgitation on first-trimester ultrasound has shown promising results regarding its role in the early detection of aneuploidies, congenital heart defects, and other adverse perinatal outcomes. This review article aims to demonstrate the importance of tricuspid regurgitation as a secondary marker, and consequently, significant benefits of its early detection when added to the combined first-trimester screening. Its value will be discussed, namely its sensitivity and specificity, alone and together with other current markers in the fetal assessment performed in the first-trimester ultrasound.

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“…4 Due to the association of DS with intellectual disability, physical deficits, and the fact that every pregnancy carries a small probability of a fetus with a chromosomal disorder, screening of pregnant women for suspected DS fetuses is recommended universally, irrespective of maternal age. 5 DS detection can be done in two ways: prenatal screening tests and prenatal diagnostic tests. Screening tests predict the probability of having a DS child, while diagnostic tests confirm the same.…”

Section: Introductionmentioning

confidence: 99%

Role of Fetal Second Trimester 2D Ultrasound Facial Parameters in Down Syndrome Detection

Mylavarapu,

Singh,

Kolar

2024

Journal of Fetal Medicine

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Introduction Down syndrome (DS) is the most common genetic cause of intellectual disability in humans. Various screening techniques are available, including the detection of facial characteristics of DS fetuses by prenatal ultrasonographic markers. Very few studies have tested the predictive validity of the markers in the Indian population. Objective This article determines the role of second trimester ultrasound in predicting DS using facial markers, namely, nasal bone length (NBL), prenasal thickness (PNT), NBL/PNT ratio, and PNT/NBL ratio in the Indian population Materials and Methods This prospective observational study recruited singleton pregnant women at 14 to 28 weeks of gestation with no comorbidities. Women with maternal disorders, abnormal amniotic fluid, and fetal structural anomalies were excluded. Three images of the midsagittal plane were obtained during a routine anomaly or well-being scan. The single “best” image was used for analysis. Scatter plots with regression lines and percentile curves for each gestation were created. Developed nomograms and scattered plots were validated by recruiting DS fetuses (diagnosed by amniocentesis and fetal karyotype). Results This study included 450 normal fetuses for developing nomograms, which were verified by matching 45 DS fetuses. The diagnostic accuracy of NBL, PNT, NBL/PNT ratios and PNT/NBL ratios was found to be 94, 99, 95, and 94.8, respectively. Sensitivity and specificity were found to be 51.11, 42.42, 48.89, 65.4 and 99, 96, 99.56, and 96.7 for NBL, PNT, NBL/PNT ratio, and PNT/NBL ratio, respectively. False negative rate and false positive rate were 38.89, 57.58, 51.11, 34.6 and 1, 4, 0.44, 3.3 for NBL, PNT, NBL/PNT ratio, PNT/NBL ratio, respectively. Conclusion High diagnostic accuracy was found for PNT, followed by NBL/PNT ratio, PNT/NBL ratio, and NBL. However, considering sensitivity and specificity markers together, we found the NBL/PNT ratio as a good diagnostic marker in predicting DS. Furthermore, the NBL/PNT ratio performs slightly better than its inverse counterpart (PNT/NBL ratio) for detecting DS fetuses, primarily because it produced less false positive cases.

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First trimester genetic sonogram for screening fetal Down syndrome: A population-based study

Cited by 4 publications

References 21 publications

The Wnt/β-catenin pathway maintains homeostasis of amniocytes in Down syndrome

The Wnt/β-catenin pathway maintains homeostasis of amniocytes in Down syndrome

First Trimester Tricuspid Regurgitation: Clinical Significance

Role of Fetal Second Trimester 2D Ultrasound Facial Parameters in Down Syndrome Detection

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