Terumi Tanigawa

Publications (3)7.07 Total impact

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

  Shigo Yoshida, Kiyonori Miura, Kentaro Yamasaki, Shoko Miura, Takako Shimada, Terumi Tanigawa, Atsushi Yoshida, Daisuke Nakayama, Hideaki Masuzaki
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  ABSTRACT: The results of a chromosomal test by genetic amniocentesis in 58 cases with an increased nuchal translucency (NT; > or =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 first trimester and then subsequently disappeared, chromosomal abnormalities were observed in five, and fetal abnormalities other than chromosomal abnormalities were observed in two. Meanwhile, all nine cases in which an increased NT remained or in which NT continued to increase in size during the second trimester were diagnosed as having cystic hygroma, and chromosomal abnormalities were found in six cases (67%). It should be noted that the shape of increased NT includes NT with a notch (notched NT) and NT without a notch (smooth NT). Among the 20 cases of notched NT, chromosomal abnormalities were observed in eight (40%), and cystic hygroma was observed in nine (45%). On the other hand, among the 38 cases of smooth NT, chromosomal abnormalities were observed in three (7.9%), but no cystic hygroma was observed. Our results confirm that increased NT does not always indicate a fetal abnormality. Whether NT thickness should be measured as a screening tool for fetal abnormalities remains controversial. However, 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 to obtain appropriate genetic counseling whenever increased NT is clinically observed.
  Journal of Human Genetics 05/2008; 53(8):688-93. · 2.57 Impact Factor
• Article: Prenatal ultrasonographic findings may be useful in predicting the prognosis of trisomy 18.

  Terumi Tanigawa, Daisuke Nakayama, Kiyonori Miura, Shoko Miura, Takako Shimada, Hideaki Masuzaki
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  ABSTRACT: This study was conducted to determine whether specific ultrasonographic findings in the prenatal period were associated with survival of children affected with trisomy 18. Between October 1987 and July 2004, we collected 24 cases with trisomy 18. We investigated the relationship of prenatal ultrasonographic findings, gestational age at delivery, the Apgar score, the mode of delivery, and the neonatal treatment strategies, with survival time. 17 of the 24 neonates died within 1 month after birth (Group 1), 5 died within 12 months (Group 2), and 2 survived for more than 1 year (Group 3). Severe polyhydramnios was more frequent in group 1. In groups 2 and 3, the fluid in fetal stomach was visible in all cases. Severe cardiac anomalies were more frequent in group 1. In groups 2 and 3, all neonates were girl. Prenatal ultrasonographic findings associated with survival less than 1 month included severe polyhydramnios, absence of the fluid in the stomach, severe cardiac anomaly and male sex.
  Prenatal Diagnosis 12/2007; 27(11):1039-44. · 2.11 Impact Factor
• Article: Clinical outcome of infants with confined placental mosaicism and intrauterine growth restriction of unknown cause.

  Kiyonori Miura, Koh-Ichiro Yoshiura, Shoko Miura, Tatsuro Kondoh, Naoki Harada, Kentaro Yamasaki, Yoko Fujimoto, Yoko Yamasaki, Terumi Tanigawa, Yuriko Kitajima, Takako Shimada, Atsushi Yoshida, Daisuke Nakayama, Masato Tagawa, Shuichiro Yoshimura, Joseph Wagstaff, Yoshihiro Jinno, Tadayuki Ishimaru, Norio Niikawa, Hideaki Masuzaki
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  ABSTRACT: The purpose of this study was to know a role of confined placental mosaicism (CPM) in perinatal outcome and postnatal growth and development of infants with intrauterine growth restriction (IUGR). We selected 50 infants with IUGR (<-2.0 SD) from 3,257 deliveries in a regional medical center during the past 10-year period, and carried out cytogenetic and molecular analyses in their placenta and cord blood. Of the 50 infants, 8 had CPM (CPM group) and were composed of five single (CPM2, 7, 13, 22, and 22), one double (CPM7/13), and one quadruple trisomy (CPM2/7/15/20), and one partial monosomy [del(2)(p16)]. The origin of an extra chromosome of trisomy was maternal in six cases of CPM, paternal in one, and undetermined in one. Uniparental disomy in disomic cell lines was ruled out in all these mosaics. We also compared clinical parameters for perinatal outcome between CPM group and infants without evidence of CPM (non-CPM group), such as maternal and gestational age, birth weight, Apgar score, cord blood pH, gender, and uterine artery patterns by Doppler ultrasonography, as well as weight, height, and developmental quotient (DQ) by Denver Developmental Screening Test at age 12 months. Phenotypic abnormalities were noted in two infants with CPM and three infants of non-CPM group: One with CPM22 had ASD and hypospadias, one with CPM7/13 had Russell-Silver syndrome (RSS), and one without CPM had polydactyly, and two without CPM had RSS. All but one infant with CPM are alive at age 12 months. Among the clinical parameters, the detection rate of a notch waveform pattern of the uterine artery was significantly higher in the CPM group (P < 0.05). However, no significant difference was noted in perinatal outcome of pregnancy and in DQ at age 12 months between the two groups. Interestingly, short stature (<-2 SD) at age 12 months was more frequently seen in CPM group (7/8 infants with CPM vs. 8/15 infants without CPM), although no statistically significant difference was obtained. The information obtained will be useful for perinatal care and genetic counseling for infants with IUGR and CPM.
  American Journal of Medical Genetics Part A 10/2006; 140A(17):1827-33. · 2.39 Impact Factor