Publications by authors named "Rie Seyama"

3 Publications

  • Page 1 of 1

Whole exome sequencing of fetal structural anomalies detected by ultrasonography.

J Hum Genet 2021 May 3;66(5):499-507. Epub 2020 Nov 3.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

The objective of this study was to evaluate the efficacy of whole exome sequencing (WES) for the genetic diagnosis of cases presenting with fetal structural anomalies detected by ultrasonography. WES was performed on 19 cases with prenatal structural anomalies. Genomic DNA was extracted from umbilical cords or umbilical blood obtained shortly after birth. WES data were analyzed on prenatal phenotypes alone, and the data were re-analyzed after information regarding the postnatal phenotype was obtained. Based solely on the fetal phenotype, pathogenic, or likely pathogenic, single nucleotide variants were identified in 5 of 19 (26.3%) cases. Moreover, we detected trisomy 21 in two cases by WES-based copy number variation analysis. The overall diagnostic rate was 36.8% (7/19). They were all compatible with respective fetal structural anomalies. By referring to postnatal phenotype information, another candidate variant was identified by a postnatal clinical feature that was not detected in prenatal screening. As detailed phenotyping is desirable for better diagnostic rates in WES analysis, we should be aware that fetal phenotype is a useful, but sometimes limited source of information for comprehensive genetic analysis. It is important to amass more data of genotype-phenotype correlations, especially to appropriately assess the validity of WES in prenatal settings.
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http://dx.doi.org/10.1038/s10038-020-00869-8DOI Listing
May 2021

Laparoscopic Removal of Modified Vertical Uterine Compression Sutures due to Postoperative Focal Pain.

Surg J (N Y) 2020 Apr 31;6(2):e67-e70. Epub 2020 Mar 31.

Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan.

Previously we reported laparoscopic removal of compression sutures due to uterine ischemia and related pain, which has two of the difficult aspects: (1) maneuvering the curved needle to perform compression suturing in the narrow surgical field, and (2) distinguishing between the threads of the cesarean section wound sutures versus the vertical compression sutures during removal, as the threads are the same white color. We performed vertical compression sutures for intrapartum hemorrhage with total placental previa, and modified both the needle type and the color of the thread used for uterine compression sutures during cesarean section. After the operation, we performed successful laparoscopic removal of compression sutures for postoperative focal pain. Changing the needle type and color helped to perform operations. The present case supports the concept that the laparoscopic removal of uterine compression suturing is useful for controlling pain in cases where general analgesics are ineffective.
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http://dx.doi.org/10.1055/s-0040-1708865DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7108947PMC
April 2020

Retrospective study of the recurrence risk of preterm birth in Japan.

J Matern Fetal Neonatal Med 2020 Feb 18:1-5. Epub 2020 Feb 18.

Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan.

A history of preterm birth is a risk factor for preterm birth in a future pregnancy, and there are some reports of prevention methods, such as the administration of progesterone. However, the rate of recurrence of preterm birth in Japan has not been clarified, and there is no data for judging whether these preventive methods are effective. To clarify the risk of recurrence of preterm birth and preterm prelabor rupture of membranes (pPROM) in Japan. A retrospective study was conducted using the perinatal registration database of the Japan Obstetrics and Gynecology Society for the Perinatal Center from 2014 to 2016. There were 704,418 subjects, of which 190,990 were excluded those with unknown maternal information, those under the age of 20 years, those with perinatal disease related to preterm birth, and first-time mothers. Logistic model unavailable and multivariate analysis were performed. An analysis of the preterm birth history indicated the risk of preterm birth in the current pregnancy, and the odds ratio for preterm birth recurrence once, twice, and three times or more was 3.3, 6.6, and 7.8, respectively. As a secondary analysis, we analyzed whether the history of pPROM is a risk factor of recurrence of pPROM and found a significant association with an odds ratio of 3.4. Having a preterm birth history increases the risk of recurrence of preterm birth, and the risk of recurrent preterm birth increases as the number of preterm births increases. Although this report is intended for high-risk pregnancies wherein the rate of preterm birth is high, as previously reported, our data indicate that in Japan, preterm birth is a risk factor of recurrent preterm birth.
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http://dx.doi.org/10.1080/14767058.2020.1727435DOI Listing
February 2020