The purpose of this article was to discuss the process of setting up a nuchal translucency (NT) screening clinic in clinical practice, how to interpret the information in combination with other clinical tests, what to do if abnormal results are obtained, and to illustrate some of the fetal anomalies that are associated with an increased NT. The NT was initially implemented to predict the likelihood of a fetus with Down syndrome. Maternal age can be combined with fetal NT and maternal serum biochemistry (free β-hCG and PAPP-A) at 11 to 14 weeks to identify about 90% of affected fetuses. Setting up a clinic to perform the NT screening requires certified physicians and certified sonographers. Certification can be obtained for both physicians and sonographers through Nuchal Translucency Quality Review and Fetal Medicine Foundation. Cell-free DNA testing is now altering what our patients are choosing to evaluate fetuses at risk for chromosomal anomalies and congenital anomalies. Common pitfalls to performing, interpreting, and conveying results of the NT are illustrated in this article. Nasal bone measurement, fetal anatomy examination and fetal echocardiography are tools that add sensitivity to the detection of chromosomal abnormalities. Examples of fetal anomalies discovered during the NT screening are also illustrated. Screening for obstetric complications is an additional benefit to the NT clinic.
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http://dx.doi.org/10.1097/RUQ.0000000000000161 | 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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