Feelings and thoughts about life selection in pregnant women undergoing non-invasive prenatal testing in Japan.

The objective of this study was to conduct qualitative research by clarifying the thoughts of pregnant women undergoing non-invasive prenatal testing (NIPT) in Japan, to collect evidence to provide information and psychosocial support in genetic counseling (GC). We attempted to conduct qualitative research to provide support for GC and the society in relation to children with special needs, by clarifying the thoughts of pregnant women undergoing NIPT. Between January 2016 and December 2017, we administered an open-ended questionnaire to pregnant Japanese women undergoing NIPT to clarify their ethical views in relation to children with special needs.

Does a cervical pessary reduce the rate of preterm birth in women with a short cervix?

Objectives: To evaluate neonatal outcomes after the use of a cervical pessary in Japanese women with short cervical length (CL) less than 25 mm.

Methods: This multicenter study involved women with singleton pregnancies between 20 and 29+6 gestational weeks and a CL of less than 25 mm. The primary outcome was preterm birth (PTB) before 34 weeks of gestation.

Trends of fetal chromosome analysis by amniocentesis before and after beginning of noninvasive prenatal testing: A single-center experience in Japan.

Aim: This study is to investigate the role of amniocentesis for prenatal diagnosis before and after the beginning of noninvasive prenatal testing (NIPT) in Japan.

Methods: We performed a retrospective analysis of genetic amniocentesis at mid-trimester (15-20 gestational weeks) for fetal karyotype analysis at Nagoya City University between April 2006 and March 2020. The indications, test results, and the detection rate of fetal abnormal karyotype were compared before (phase 1, P1) and after (phase 2, P2) beginning of NIPT at April 2013.

Study of Relationship Between Mode of Conception and Non-Specific Psychological Distress in Women Undergoing Noninvasive Prenatal Testing.

Background: Noninvasive prenatal testing (NIPT) has been performed worldwide to detect common fetal chromosomal aneuploidies.

Methods: Pregnant women (n=3743) with advanced maternal age who visited Nagoya University for NIPT were enrolled in this study. The K6 mental stress scores, that is non-specific psychological distress scores were obtained by questionnaires which were administered pre-NIPT and postpartum.

Performance and outcomes of noninvasive prenatal testing for twin pregnancies in Japan.

Aim: The purpose of this study was to describe the characteristics of women with twin pregnancies who undergo noninvasive prenatal testing (NIPT) as well as the post-partum and neonatal outcomes of such cases in Japan.

Methods: The study population consisted of women who were pregnant with twins and who underwent NIPT using massively parallel sequencing (MPS) at Nagoya City University Hospital between April 2013 and June 2016. Questionnaires were completed pre-NIPT and post-partum.

Background of couples undergoing non-invasive prenatal testing in Japan.

Aim: Our purpose was to assess the background of couples who were undergoing non-invasive prenatal testing (NIPT) in Japan.

Methods: The characteristics of 2486 women who had visited Nagoya City University Hospital for NIPT were compared with Japanese Demographic Trends as controls. The questionnaire included items regarding the maternal and paternal age, maternal age at marriage, age at first live birth, and conception mode.

Descriptive epidemiology of spot urine sodium-to-potassium ratio clarified close relationship with blood pressure level: the Nagahama study.

Objectives: We undertook descriptive epidemiology of spot urine sodium-to-potassium ratio (Na/K) in a population sample to clarify the close relationship between Na/K and blood pressure level independently of potential confounding factors.

Methods: Study participants consisted of 9144 apparently healthy citizens (aged 54 ± 13 years). All clinical parameters were obtained at baseline.

MMP20 and ARMS2/HTRA1 Are Associated with Neovascular Lesion Size in Age-Related Macular Degeneration.

Purpose: Age-related macular degeneration (AMD) is the leading cause of severe visual impairment. Despite treatment, a central scotoma often remains. The size of the scotoma depends on the lesion size of the choroidal neovascular membrane and significantly affects the patient's quality of life, and the lesion size of neovascularization also affects response to treatments.

The Contribution of Genetic Architecture to the 10-Year Incidence of Age-Related Macular Degeneration in the Fellow Eye.

Purpose: To correlate a genetic risk score based on age-related macular degeneration (AMD) susceptibility genes with the risk of AMD in the second eye.

Methods: This is a retrospective, open cohort study consisting of 891 unilateral AMD patients, who were followed for at least 12 months and recruited from three institutes. DNAs were genotyped using Illumina OmniExpress, HumanOmni2.

Sensitivity and specificity for detecting early glaucoma in eyes with high myopia from normative database of macular ganglion cell complex thickness obtained from normal non-myopic or highly myopic Asian eyes.

Purpose: We aimed to determine the sensitivity and specificity of the normative database of non-myopic and highly myopic eyes of the macular ganglion cell complex (mGCC) thickness embedded in the NIDEK RS-3000 spectral-domain optical coherence tomography (SD-OCT) for detecting early glaucoma in highly myopic eyes.

Methods: Forty-seven highly myopic eyes (axial length ≥26.0 mm) of 47 subjects were studied.

Central blood pressure relates more strongly to retinal arteriolar narrowing than brachial blood pressure: the Nagahama Study.

Objectives: Although central blood pressure (BP) is considered to be more closely associated with large arterial remodeling and cardiovascular outcomes than brachial BP, few studies have investigated these associations with changes in small arteries. As morphological changes in retinal vessels might be associated with cardiovascular outcomes, we conducted a cross-sectional study to investigate the association of central BP with retinal vessel caliber.

Methods: The study included 8054 Japanese participants.

Comprehensive replication of the relationship between myopia-related genes and refractive errors in a large Japanese cohort.

Purpose: We investigated the association between refractive error in a Japanese population and myopia-related genes identified in two recent large-scale genome-wide association studies.

Methods: Single-nucleotide polymorphisms (SNPs) in 51 genes that were reported by the Consortium for Refractive Error and Myopia and/or the 23andMe database were genotyped in 3712 healthy Japanese volunteers from the Nagahama Study using HumanHap610K Quad, HumanOmni2.5M, and/or HumanExome Arrays.

Association of focal choroidal excavation with age-related macular degeneration.

Purpose: To study the prevalence, tomographic features, and clinical characteristics of focal choroidal excavation (FCE) in eyes with exudative age-related macular degeneration (AMD).

Methods: We examined 243 consecutive eyes with exudative AMD with a prototype swept-source optical coherence tomography (OCT) system. Three-dimensional images of the macular area, covering 6 × 6 mm(2), were reconstructed by segmentation of the outer surface of the retinal pigment epithelium.

Parental decisions following prenatal diagnosis of chromosomal abnormalities: implications for genetic counseling practice in Japan.

Parental decision-making to terminate or continue a pregnancy was studied after prenatal diagnosis of a chromosome aneuploidy among a sample of patients around the city of Nagoya, Japan. A total of 1,051 amniocentesis cases at 15-18 weeks of gestation were analyzed. Of these, 60 cases of chromosomal anomalies with aneuploidies were diagnosed by conventional cytogenetic analysis.

Non-specific psychological distress in women undergoing noninvasive prenatal testing because of advanced maternal age.

Objective: The objective of our study was to describe our clinical experience in providing noninvasive prenatal testing (NIPT) for fetal aneuploidy to pregnant women, highlighting the degree of non-specific psychological distress.

Methods: Data were collected from Japanese women who were offered and underwent NIPT after genetic counseling and control pregnant women who did not undergo NIPT as part of the Japan Environment and Children's Study Control A planning. The degree of mental distress was assessed using the Kessler 6 (K6) screening scale with a score of ≥10 indicating depression or anxiety disorder.

Three-dimensional optical coherence tomography evaluation of vascular changes at arteriovenous crossings.

Purpose: To study the three-dimensional morphologic features of retinal arteriovenous crossings with optical coherence tomography (OCT) and elucidate the vascular changes associated with crossing phenomena as seen on fundus photographs.

Methods: We examined 150 consecutive eyes with no ocular disease. In each eye, fundus photographs were taken, and one randomly selected arteriovenous crossing was examined by OCT.

Retinal vessel tortuosity associated with central retinal vein occlusion: an optical coherence tomography study.

Purpose: We studied morphologic changes of the retinal vasculature in eyes with central retinal vein occlusion (CRVO) through the use of optical coherence tomography (OCT).

Methods: Major retinal vessels in 35 eyes from 35 consecutive patients with acute CRVO were examined prospectively and longitudinally with sequential thin sectioning and circumpapillary scanning. Anteroposterior venous tortuosity associated with CRVO was quantified on longitudinal OCT images of a randomly selected major temporal vein.

Association between ZIC2, RASGRF1, and SHISA6 genes and high myopia in Japanese subjects.

Purpose: We investigated the association of genetic variations, which were identified recently in a large-scale genome-wide association study (GWAS) to confer risk of refractive error and common myopia in Caucasians, with high myopia in Japanese subjects.

Methods: The 5 single-nucleotide polymorphisms (SNPs) from the 5 genes TOX, RDH5, ZIC2, RASGRF1, and SHISA6, were genotyped in 1339 unrelated highly myopic Japanese patients and 3248 healthy Japanese participants in the Nagahama Study. In addition, genotypes were compared between high myopia patients without choroidal neovascularization (CNV) and patients with myopic CNV.

Vascular endothelial growth factor gene and the response to anti-vascular endothelial growth factor treatment for choroidal neovascularization in high myopia.

Purpose: To investigate the association between the vascular endothelial growth factor (VEGF) gene polymorphism and the response to anti-VEGF treatment for choroidal neovascularization (CNV) in highly myopic eyes.

Design: Retrospective cohort study.

Participants: A total of 357 unrelated highly myopic Japanese patients with axial lengths ≥26.

Age- and hypertension-dependent changes in retinal vessel diameter and wall thickness: an optical coherence tomography study.

Purpose: To validate and evaluate the reliability of retinal vessel diameter measurements by optical coherence tomography (OCT). The effects of age and hypertension on vessel diameter were also examined.

Design: Prospective, cross-sectional study.