Objective: To investigate first trimester nuchal translucency > or = 3 mm as a screening test for aneuploidy in the normal pregnant population.
Design: A pilot observational study.
Setting: University College Hospital, London.
Subjects: One thousand one hundred and twenty-seven women had measurements of nuchal translucency at the time of their dating scan (8-13 weeks of gestation).
Results: Seventy fetuses (6%) had a nuchal translucency > or = 3 mm. Five karyotypically abnormal fetuses were identified by standard routine techniques (three trisomy 21, two trisomy 18), all in high risk mothers (> or = 39 years). Only two had nuchal translucency > or = 3 mm (one trisomy 21, one trisomy 18).
Conclusions: Although nuchal translucency measurement is feasible and promising, there is at present insufficient data to warrant its introduction for screening of the general population, or to replace traditional second trimester screening.
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http://dx.doi.org/10.1111/j.1471-0528.1995.tb11290.x | DOI Listing |
Br J Hosp Med (Lond)
December 2024
Department of Obstetrics and Gynecology, Rizhao People's Hospital, Rizhao, Shandong, China.
Prenatal diagnosis is a crucial tool in reducing birth defects. Research indicates that whole-exome sequencing (WES) is particularly effective for detecting abnormalities associated with structural ultrasound findings. This study aimed to evaluate the utility of WES in the genetic diagnosis of prenatal ultrasound abnormalities.
View Article and Find Full Text PDFBMC Pregnancy Childbirth
January 2025
Genetic Program, North York General Hospital, Toronto, ON, Canada.
Background: Preeclampsia significantly impacts maternal and perinatal health. Early screening using advanced models and primary prevention with low-dose acetylsalicylic acid for high-risk populations is crucial to reduce the disease's incidence. This study assesses the feasibility of implementing preterm preeclampsia screening and prevention by leveraging information from our current aneuploidy screening program in a real-world setting with geographic separation clinical site and laboratory analysis site.
View Article and Find Full Text PDFPrenat 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
February 2025
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.
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