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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概要

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• The results of a chromosomal test by genetic amniocentesis in 58 cases with anincreased nuchal translucency (NT; ≥3 mm thickness) revealed 47 cases showing anormal karyotype (81%) and 11 cases (19%) showing an abnormal karyotype. However,the cases of a normal karyotype with increased NT also included those with fetalabnormalities. Among the 49 cases in which NT was observed during the 1st trimesterand then subsequently disappeared, chromosomal abnormalities were observed in 5cases, and fetal abnormalities other than chromosomal abnormalities were observed in 2cases. Meanwhile, all 9 cases in which an increased NT remained or in which NTcontinued to increase in size during the 2nd trimester were diagnosed to have cystichygroma, and chromosomal abnormalities were found in 6 cases (67%). It should benoted that the shape of increased NT includes NT with a notch (Notched NT) and NTwithout a notch (Smoothed NT). Among the 20 cases of Notched NT, chromosomalabnormalities were observed in 8 cases (40%), and cystic hygroma was observed in 9cases (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 fetalabnormality. Whether the thickness of NT should be measured as screening of fetalabnormalities remains controversial. However, an increased NT may be detected bychance, because a maternal-fetal medical examination using ultrasonography is usuallyperformed in Japan. It is therefore considered to be extremely important to establish asystem in which cases are referred to obstetricians who are licensed clinical geneticspecialists in order to obtain appropriate genetic counseling whenever an increased NTis clinically observed.

• Springer Japanの論文
• 2008-08-01

著者

• Masuzaki Hideaki

  長崎大学 大学院医歯薬学総合研究科産婦人科

• Masuzaki Hideaki

  Department Of Obstetrics And Gynecology Nagasaki University Graduate School Of Biomedical Sciences

• NAKAYAMA DAISUKE

  Department of Chemistry, Faculty of Science, Yamaguchi University

• Nakayama Daisuke

  Department Of Obstetrics And Gynecology Nagasaki University Graduate School Of Biomedical Sciences

• Nakayama Daisuke

  長崎大学 大学院医歯薬学総合研究科産婦人科

• Yoshimura Shuichiro

  長崎大学 医歯薬学総合研究科人類遺伝学

• Masuzaki Hideaki

  Department Of Reproductive Pathophysiology Nagasaki University Graduate School Of Biomedical Science

• Masuzaki Hideaki

  Department Of Gynecology School Of Medicine Nagasaki University

• Miura Shoko

  Department Of Obstetrics And Gynecology Nagasaki University Graduate School Of Biomedical Sciences

• MIURA Kiyonori

  Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences

• Yoshida Atsushi

  Department of Sagami Junkannki Clinic, Kitasato University School of Medicine

• YOSHIDA Shigo

  Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences

• YAMASAKI Kentaro

  Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences

• SHIMADA Takako

  Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences

• TANIGAWA Terumi

  Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences

• Nakayama Daisuke

  Department Of Chemistry Faculty Of Science Yamaguchi University

• Minakami Hisanori

  Department Of Obstetrics And Gynecology Graduate School Of Medicine Hokkaido University

• Yamada Koki

  Department Of Human Genetics University Of Chicago

• Miura Kiyonori

  Department Of Obstetrics And Gynecology Nagasaki University Graduate School Of Biomedical Sciences

• Tanigawa Terumi

  Department Of Obstetrics And Gynecology Nagasaki University Graduate School Of Biomedical Sciences

• Yoshimura Shuichiro

  Department Of Obstetrics And Gynecology Nagasaki University Graduate School Of Biomedical Sciences

• Yoshimura Shuichiro

  Department Of Obstetrics And Gynecology Asahikawa Medical College

• Nakayama Daisuke

  Department Of Chemistry & Biotechnology Yokohama National University

• Sasaki Yoshihito

  Department Of Obstetrics And Gynecology Asahikawa Medical College

• Yoshida Atsushi

  Department Of Obstetrics And Gynecology Nagasaki University Graduate School Of Biomedical Sciences

• Yoshida Atsushi

  Department Of Media And Telecommunications Engineering Faculty Of Engineering Ibaraki University

• Yoshida Atsushi

  Department Of General Infectious Diseases Dokkyo Medical University Hospital

• Miura Kiyonori

  長崎大学 大学院医歯薬学総合研究科産科婦人科学

• Yoshida Atsushi

  Department Of Breast Surgery St. Luke's International Hospital

• Shimada Takako

  Department Of Obstetrics And Gynecology The Japanese Red Cross Nagasaki Genbaku Hospital

• Shimada Takako

  Department Of Obstetrics And Gynecology Nagasaki University Graduate School Of Biomedical Sciences

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