Objective: Our aim was to develop gestational age standardized indices of fetal nuchal thickening. In addition, we wanted to develop a method for combining nuchal thickness data with maternal age for calculating individual Down's syndrome risk.
Methods: Nuchal thickness was measured prospectively in pregnancies undergoing genetic amniocentesis. A regression equation for expected median nuchal thickness based on the biparietal diameter (BPD) was developed. Nuchal thickness values were expressed as multiples of the median (MoM). Additionally, a new parameter, percentage increase in nuchal thickness (PIN) (measured minus expected nuchal thickness) X100/expected nuchal thickness, was used. Receiver operator characteristics curves for Down's syndrome detection based on nuchal thickness values expressed as MoM, PIN, and in mm were compared. Log10 transformation of MoM data resulted in a Gaussian distribution, and the Down's syndrome likelihood ratios were calculated based on the heights of the Gaussian curves. Likelihood ratios were also calculated based on PIN values. The screening efficiency of maternal age alone was compared to age plus MoM, and age plus PIN values by multiplying age-related risk by the likelihood ratio corresponding to the given nuchal thickness MoM or PIN values.
Results: There were 3,574 chromosomally normal and 50 Down's syndrome fetuses in the study. Both PIN and MoM values for nuchal thickness were closely correlated (R = 1.00, P<0.001) and each was poorly correlated with gestational age (R = 0.018, P = 0.28). The Down's syndrome screening efficiency of PIN, MoM, and nuchal thickness values in mm were not significantly different. The addition of nuchal thickness data to maternal age-related risk significantly improved the Down's syndrome screening efficiency: Area under the ROC curve for maternal age risk = 0.58, maternal age + PIN area = 0.79 (P<0.001 compared to maternal age alone) and for maternal age + MoM = 0.77 (P<0.005 compared to maternal age alone).
Conclusions: The development of gestational age standardized nuchal thickness indices makes it possible to combine ultrasound and maternal age-related risk to derive individual Down's syndrome odds.
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http://dx.doi.org/10.1002/(SICI)1520-6661(199903/04)8:2<37::AID-MFM1>3.0.CO;2-P | DOI Listing |
Arch Gynecol Obstet
January 2025
Department of Obstetrics and Gynaecology, University Hospital Tübingen, University of Tübingen, Calwerstrasse 7, 72076, Tübingen, Germany.
Objective: To examine the impact of a new image enhancement technique on the distribution of NT measurements.
Methods: In this retrospective study, nuchal translucency (NT) images that were taken with the GE Voluson E22 ultrasound machine between May and September 2024 were collected. One operator took manual and automated NT measurements in an NT image without radiant enhancement mode followed by automated measurements in NT images with minimum, medium and maximum radiant mode.
Prenat Diagn
January 2025
Department of Artificial Intelligence, Faculty of Computer Science and Information Technology, Universiti Malaya, Kuala Lumpur, Malaysia.
Objective: The first objective is to develop a nuchal thickness reference chart. The second objective is to compare rule-based algorithms and machine learning models in predicting small-for-gestational-age infants.
Method: This retrospective study involved singleton pregnancies at University Malaya Medical Centre, Malaysia, developed a nuchal thickness chart and evaluated its predictive value for small-for-gestational-age using Malaysian and Singapore cohorts.
Ultrasound Q
March 2025
Department of Critical Care Medicine, The First Affiliated Hospital of Chengdu Medical College, Chengdu, Sichuan, China.
This retrospective study included 311 patients who had increased nuchal translucency (NT ≥3 mm) or nuchal septations (NSs) during the first trimester from January 2018 to December 2020. These patients were divided into 3 groups: (1) patients with NT thickness between 3 and 5 mm and without NS (NT 3-5 mm group, n = 131), (2) patients with NT thickness >5 mm and without NS (NT >5 mm group, n = 105), and (3) patients with NS (NS group, n = 75). The incidence of abnormal pregnancy outcomes was 92.
View Article and Find Full Text PDFLife (Basel)
November 2024
Thoracic Surgery Department, San Camillo Forlanini Hospital, 00152 Rome, Italy.
Background: This paper presents the outcomes of employing the inferiorly based rotated sternocleidomastoid muscle flap in complex tracheal reconstruction/repair scenarios, focusing on the key objectives of ensuring stable airway, functional digestive tract and patient survival.
Methods: A retrospective analysis was performed for patients treated at two medical centers (A.O.
Diagnostics (Basel)
November 2024
Laboratorio di Genetica Umana, Altamedica, Viale Liegi 45, 00198 Rome, Italy.
Ciliopathies are rare congenital disorders caused by defects in the structure or function of cilia, which can lead to a wide range of clinical manifestations. Among them, a subset known as skeletal ciliopathies exhibits significant phenotypic overlap and primarily affects skeletal development. This group includes several syndromes with overlapping but distinct clinical features, such as short-rib polydactyly syndrome (SRPS), Jeune asphyxiating thoracic dystrophy (JATD), Mainzer-Saldino syndrome (MZSDS), and cranioectodermal dysplasia (CED), also called Sensenbrenner syndrome.
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