Objectives: To examine the correlation and extent of overlapping between first-trimester nuchal translucency (NT) and second-trimester triple test (TT) results in Down syndrome (DS)-affected pregnancies.
Methods: Results of both tests were obtained in 28 cases with DS. Inter-test correlation was performed by comparing the likelihood ratios (LRs). Screen-positive rates (risk >1:380) were calculated for different age groups by adjusting age-dependent background risk and tests' LRs. Overlapping referred to ratio between screen-positive cases by both tests simultaneously and total screen-positive cases by either one or both tests.
Results: No correlation was found between the tests' LRs (Pearson correlation test, r = 0.0487). The overlapping between the tests was 25% and 38.5% among young patients of 20 and 35 years of age, respectively. The average overlapping among patients between 25 and 35 years of age was approximately 33%. Only 3 of the 28 DS cases demonstrated LRs <1 by both tests and moreover none exhibited LRs <0.2 by both tests.
Conclusions: The degree of overlapping of one third, between NT and TT, confirms the assumption that both tests utilized together improves DS detection. Screen- negative result, by both tests simultaneously, may reassure low-risk population and aid to reduce the number of non-indicated invasive tests.
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http://dx.doi.org/10.1159/000069377 | DOI Listing |
Prenat Diagn
January 2025
Discipline of Women's Health, University of New South Wales, Randwick, Australia.
Introduction: Genome-wide non-invasive prenatal testing (gwNIPT) has screening limitations for detectable genetic conditions and cannot detect microdeletions/microduplications (MD) or triploidy. Nuchal translucency (NT) increases with gestation and with genetic or structural abnormalities. This study aims to determine the utility of NT measurement in detecting genetic abnormalities not identified by gwNIPT and the optimal NT threshold value.
View Article and Find Full Text PDFBMC Med Genomics
December 2024
Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, Fujian Province, 362000, China.
Background: The literature contains exceedingly limited reports on chromosome 10p15.3 microdeletions. In the present study, two cases of fetuses with pure terminal 10p15.
View Article and Find Full Text PDFEur J Obstet Gynecol Reprod Biol
December 2024
Department of Neonatology, All India Institute of Medical Sciences, Bhubaneswar, Odisha 751019, India. Electronic address:
Background: Arthrogryposis multiplex congenita involves joint contractures across various body parts. Distal arthrogryposis type 5D (DA5D) is a rare, autosomal recessive subtype affecting distal extremities, with symptoms like knee extension contractures, camptodactyly, overriding fingers, ulnar wrist deviation, and scoliosis.
Case: A 24-year-old pregnant woman with a second-degree relative partner had a fetus showing increased nuchal translucency (3.
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 PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2024
Center for Medical Genetics and Prenatal Diagnosis, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
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