A mixture model of nuchal translucency thickness in screening for chromosomal defects: validation of a single operator dataset

Gasiorek-Wiens, Adam; Kotsis, Stylianos; Staboulidou, I.; Stümm, Markus; Wegner, Rolf-Dieter; Soergel, Philipp; Schippert, Cordula; Kaisenberg, Constantin S. von

doi:10.1002/pd.2625

Cited by 5 publications

(3 citation statements)

References 14 publications

(34 reference statements)

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“…In such cases, it can be rather difficult to interpret the CUSUM chart, and long‐term or retrospective use is limited because CUSUM must be restarted to determine whether a corrective action has been sufficient. Another consideration to mention is that CUSUM charts are sensitive to normality assumptions; in concordance with other large studies, our study found that this assumption was not sufficiently met.…”

Section: Discussionsupporting

confidence: 74%

Exponentially weighted moving average chart as a suitable tool for nuchal translucency quality review

et al. 2014

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Section: Discussionsupporting

confidence: 74%

Exponentially weighted moving average chart as a suitable tool for nuchal translucency quality review

et al. 2014

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“…Her family history was unremarkable. First‐trimester nuchal translucency thickness was 1.4 mm (55.8th centile), 4 and cell‐free fetal DNA test suggested a low risk of aneuploidy. Fetal echocardiography revealed the ductal anomalous origin of the left pulmonary artery (DOPA) associated with tetralogy of Fallot (TOF).…”

Section: Case Presentationmentioning

confidence: 97%

“…Her family history was unremarkable. First-trimester nuchal translucency thickness was 1.4 mm (55.8th centile), 4 22q11 deletion and copy number variation sequencing (CNV-seq) was offered but declined by the woman. As a result, the mother decided to terminate the pregnancy and refused an autopsy.…”

Section: Case Presentationmentioning

confidence: 99%

Prenatal two‐and three‐dimensional echocardiographic diagnosis of ductal anomalous origin of the left pulmonary artery: Case report and literature review

Yang

Hou

et al. 2023

Echocardiography

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Although the ductal anomalous origin of the pulmonary artery (DOPA) constitutes a rare heart anomaly, this malformation has a high mortality rate due to the rapid development of pulmonary hypertension(PTH) and right heart failure. Case Presentation: We report a case of DOPA, in which ductus arteriosus originated from the left pulmonary artery. This article summarizes the embryogenesis, clinical manifestations, complications and prognosis, diagnosis and experience, and treatment strategies of DOPA. The most fundamental sonographic finding was the lack of confluence at the bifurcation of the main pulmonary artery. Scanning upper mediastinum views is essential for the diagnosis. In addition, three‐dimensional echocardiography with high‐definition flow imaging and spatio‐temporal image correlation technique facilitates the identification of the anomalous origin of the pulmonary artery. It should be considered a complementary modality in fetal cardiac examinations. Although rare, DOPA can be diagnosed prenatally, usually at the three‐vessel view (3VV). The early diagnosis of DOPA thus can prevent the potentially devastating effects of PHT and right heart failure.

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First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening

Alldred

Takwoingi

Guo

et al. 2017

Cochrane Database of Systematic Reviews

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Test strategies that combine ultrasound markers with serum markers, especially PAPP-A and free ßhCG, and maternal age were significantly better than those involving only ultrasound markers (with or without maternal age) except nasal bone. They detect about nine out of 10 Down's affected pregnancies for a fixed 5% FPR. Although the absence of nasal bone appeared to have a high diagnostic accuracy, only five out of 10 affected Down's pregnancies were detected at a 1% FPR.

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A mixture model of nuchal translucency thickness in screening for chromosomal defects: validation of a single operator dataset

Abstract: The use of the mixture model in a single operator dataset produces results compatible with the original study. The mixture model has thus been validated.

Cited by 5 publications

References 14 publications

Exponentially weighted moving average chart as a suitable tool for nuchal translucency quality review

Exponentially weighted moving average chart as a suitable tool for nuchal translucency quality review

Prenatal two‐and three‐dimensional echocardiographic diagnosis of ductal anomalous origin of the left pulmonary artery: Case report and literature review

First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening

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