Objective: To evaluate the feasibility of measuring first trimester nuchal translucency in an unselected population, to assess the relationship with gestation and maternal age and to measure reproducibility.
Design: A prospective observational study.
Setting: University College Hospital, London.
Subjects: One thousand and four women attending for a routine first trimester dating scan between eight and thirteen weeks of gestation. Measurements of nuchal translucency were attempted in 1368 (80.3%) and successful in 1127 (82% of attempts).
Results: Nuchal translucency is most easily measured at 11 weeks of gestation. If a cut-off of > or = 3 mm is used, 6% of unselected fetuses between eight and thirteen weeks of gestation are classified as abnormal. Nuchal translucency increases with gestational but not maternal age. Reproducibility is poor: by repeating measurements with a different operator, the same operator using a different still image, or the same operator using the same still image, 18.8%, 17.5% or 12.4% of nuchal translucency measurements, respectively, change their classification as normal or abnormal.
Conclusions: If nuchal translucency > or = 3mm were used as an indication for karyotyping, 6% of the normal pregnant population would be screen positive. However, the percentage will vary greatly depending on the gestational age profile of the screened population. The poor reproducibility of nuchal translucency measurement could diminish its usefulness as a screening test for Down's syndrome.
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http://dx.doi.org/10.1111/j.1471-0528.1995.tb11289.x | 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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