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Does increased nuchal translucency indicate a fetal abnormality? A retrospective study to clarify the clinical significance of nuchal translucency in Japan

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Title: Does increased nuchal translucency indicate a fetal abnormality? A retrospective study to clarify the clinical significance of nuchal translucency in Japan
Authors: Yoshida, Shigo / Miura, Kiyonori / Yamasaki, Kentaro / Miura, Shoko / Shimada, Takako / Tanigawa, Terumi / Yoshida, Atsushi / Nakayama, Daisuke / Masuzaki, Hideaki
Issue Date: Aug-2008
Publisher: Springer Japan
Citation: Journal of Human Genetics, 53(8), pp.688-693; 2008
Abstract: The results of a chromosomal test by genetic amniocentesis in 58 cases with an increased nuchal translucency (NT; ≥3 mm thickness) revealed 47 cases showing a normal karyotype (81%) and 11 cases (19%) showing an abnormal karyotype. However, the cases of a normal karyotype with increased NT also included those with fetal abnormalities. Among the 49 cases in which NT was observed during the 1st trimester and then subsequently disappeared, chromosomal abnormalities were observed in 5 cases, and fetal abnormalities other than chromosomal abnormalities were observed in 2 cases. Meanwhile, all 9 cases in which an increased NT remained or in which NT continued to increase in size during the 2nd trimester were diagnosed to have cystic hygroma, and chromosomal abnormalities were found in 6 cases (67%). It should be noted that the shape of increased NT includes NT with a notch (Notched NT) and NT without a notch (Smoothed NT). Among the 20 cases of Notched NT, chromosomal abnormalities were observed in 8 cases (40%), and cystic hygroma was observed in 9 cases (45%). On the other hand, among the 38 cases of Smoothed NT, chromosomal abnormalities were observed in 3 cases (7.9%), but no cystic hygroma was observed. Our results clarified that increased NT does not always indicate a fetal abnormality. Whether the thickness of NT should be measured as screening of fetal abnormalities remains controversial. However, an increased NT may be detected by chance, because a maternal-fetal medical examination using ultrasonography is usually performed in Japan. It is therefore considered to be extremely important to establish a system in which cases are referred to obstetricians who are licensed clinical genetic specialists in order to obtain appropriate genetic counseling whenever an increased NT is clinically observed.
Keywords: Nuchal translucency / Prenatal diagnosis / Genetic counseling / Ultrasonography / Obstetrics / Genetic amniocentesis / Screening marker
URI: http://hdl.handle.net/10069/19234
ISSN: 14345161
DOI: 10.1007/s10038-008-0299-6
Rights: © The Japan Society of Human Genetics and Springer 2008 / The original publication is available at www.springerlink.com
Type: Journal Article
Text Version: author
Appears in Collections:Articles in academic journal

Citable URI : http://hdl.handle.net/10069/19234

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