Fetal Diagn Ther
Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Published: April 2005
Objectives: The detection of an increased nuchal translucency (NT) or nuchal fold (NF) measurement is associated with an increased risk of common aneuploidies. Only rarely is it associated with other types of chromosome abnormalities. We report the prenatal finding of an increased NF in a fetus with an interstitial 4p deletion.
Methods: Standard karyotype analysis was followed by FISH with research generated BAC probes to precisely map the 4p deletion.
Results: The karyotype of the fetus was determined to be 46,XX,del(4)(p15.2p16.1) by G-banding analysis and was refined to 46,XX,del(4) (p15.1p15.32) after FISH analysis. The breakpoints were narrowed to 150 kb regions on each side. The deletion is approximately 14.5 Mb, containing approximately 47 genes.
Conclusions: We report a case of an increased NF measurement associated with a 4p deletion. A literature review revealed a previous case of a 4p deletion in a fetus with an increased NT. Since chromosome deletions are rarely associated with an increased NT or NF, we believe it is significant that a 4p deletion has now been found in two unrelated cases. We mapped the deletion with BAC probes, generating a list of possible candidate genes involved in the pathogenesis of increased nuchal skin folds.
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http://dx.doi.org/10.1159/000081371 | DOI Listing |
Front Cell Infect Microbiol
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Department of Neurology, Harrison International Peace Hospital, Hengshui, China.
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Discipline of Women's Health, University of New South Wales, Randwick, Australia.
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Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, Fujian Province, 362000, China.
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Department of Neonatology, All India Institute of Medical Sciences, Bhubaneswar, Odisha 751019, India. Electronic address:
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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.
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