Neonatal Outcomes of Infants Born to Women on Hemodialysis: A Single-Center, Case-Control Study.

OBJECTIVE: The study aimed to investigate the neonatal outcomes of infants born to mothers on hemodialysis. STUDY DESIGN: This retrospective, case-control, and observational study included 17 infants born to 16 mothers on dialysis in 2003 to 2016. We compared their clinical characteristics to those of 51 gestational age- and sex-matched control infants. Statistical comparisons were made between the two groups by using the Wilcoxon-Mann-Whitney test for continuous variables and the Chi-square test or Fisher's exact test for categorical variables. RESULTS: Of the 16 pregnancies of mothers on dialysis, 15 (94%) deliveries were premature (<37 weeks), and 16/17 (94%) infants survived to discharge. The incidences of neonatal complications, such as intraventricular hemorrhage, bronchopulmonary dysplasia, patent ductus arteriosus, and periventricular leukomalacia, were not significantly different between the groups. However, 5/17 (29%) of the infants had congenital anomalies. CONCLUSION: Although infants born to mothers on dialysis have a high risk of prematurity, they do not have any additional risk of neonatal complications, except for congenital anomalies. The potential risk of congenital anomalies should be investigated further. KEY POINTS: · Preterm birth rate among mothers on hemodialysis was 94%.. · Complications in these infants were similar to controls.. · Twenty-nine percent of infants had congenital anomalies..

Prevalence of common aneuploidy in twin pregnancies.

The incidence of chromosomal abnormalities in twin pregnancies is not well-studied. In this retrospective study, we investigated the frequency of chromosomal abnormalities in twin pregnancies and compared the incidence of chromosomal abnormalities in dichorionic diamniotic (DD) and monochorionic diamniotic (MD) twins. We used data from 57 clinical facilities across Japan. Twin pregnancies of more than 12 weeks of gestation managed between January 2016 and December 2018 were included in the study. A total of 2899 and 1908 cases of DD and MD twins, respectively, were reported, and the incidence of chromosomal abnormalities in one or both fetuses was 0.9% (25/2899) and 0.2% (4/1908) in each group (p = 0.004). In this study, the most common chromosomal abnormality was trisomy 21 (51.7% [15/29]), followed by trisomy 18 (13.8% [4/29]) and trisomy 13 (6.9% [2/29]). The incidence of trisomy 21 in MD twins was lower than that in DD twins (0.05% vs. 0.5%, p = 0.007). Trisomy 21 was less common in MD twins, even when compared with the expected incidence in singletons (0.05% vs. 0.3%, RR 0.15 [95% CI 0.04-0.68]). The risk of chromosomal abnormality decreases in twin pregnancies, especially in MD twins.

Management of pregnancy and delivery in women with transposition of the great arteries after atrial switch operation: A 16-year single-center experience.

AIM: This study aimed to summarize cases of successful pregnancy and delivery in patients with transposition of the great arteries (TGA) after atrial switch operation (ASO), to provide management, clinical experience, and maternal and fetal outcomes. METHODS: During a 16-year period (2004-2019), we experienced 30 pregnancies in 15 patients after ASO at our institution. We retrospectively reviewed the medical records of the patients. RESULTS: In 30 pregnancies, there were 21 (70%) live births, five (17%) miscarriages, and four (13%) artificial abortions. There were no maternal or neonatal deaths. Cardiac complications occurred in nine (43%) patients: deterioration of right ventricular (RV) function in one, symptomatic heart failure (HF) in three, supraventricular tachyarrhythmia requiring electrical cardioversion in two, sick sinus syndrome that required pacemaker implantation in two, and hemoptysis in one. Obstetric complications occurred in five (24%). Neonatal complications were premature births (delivery at <37 weeks of gestation) in 15 (71%), and birthweight <2500 g in 18 (86%). The mode of delivery consisted of vaginal delivery (VD) in five (24%), and cesarean section (CS) in 16 (76%). CONCLUSION: A high incidence of preterm CS and cardiac complications including deterioration of RV function was observed in patients who had undergone ASO for TGA.

Imaging manifestations on sequential magnetic resonance imaging in pharyngolaryngeal involvement by varicella zoster virus.

Clarifying temporal changes in magnetic resonance imaging (MRI) offers a good chance to understand the pathology of neural lesions; however, such information is scarce in varicella zoster virus (VZV) neuropathies for the glossopharyngeal and vagus nerves. Here, we present the changes in sequential MR images of such a pathology over a period of 12 months from symptom onset.A 27-year-old woman with difficulty in swallowing and hoarseness due to a palatal palsy and arytenoid fixation on the left presented 2 days after onset. MRI revealed a lesion which largely filled the left jugular foramen on T2-weighted images (T2-WI) with high diffusion-weighted imaging (DWI) signals, which has never been previously described, on the 3rd day after onset. The DWI signals were highest on day 3, then deteriorated over 2 months until the signal was only detectable at the intracranial level, but not in the jugular foramen. The glossopharyngeal nerve had returned to normal by 2 months.The time course of the glossopharyngeal and vagus nerve swelling detected on T2-WI suggests that nerve swelling reduces over several months, even though the paralytic symptoms persist. Furthermore, the high DWI signal suggests that nerve swelling was caused by edematous swelling of the nerve fibers, rather than fiber disruption with water displacement in the extracellular space. These findings may provide good clues to speculate on the dynamically changing pathology of VZV neuropathies of the glossopharyngeal and vagus nerves.

Evaluation of the clinical performance of noninvasive prenatal testing at a Japanese laboratory.

AIM: We aimed to evaluate the sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of noninvasive prenatal testing (NIPT) in high-risk pregnant women. METHODS: Pregnant women who underwent GeneTech NIPT, the most commonly used NIPT in Japan, between January 2015 and March 2019, at Japan NIPT Consortium medical sites were recruited for this study. The exclusion criteria were as follows: pregnant women with missing survey items, multiple pregnancy/vanishing twins, chromosomal abnormalities in the fetus other than the NIPT target disease, and nonreportable NIPT results. Sensitivity and specificity were calculated from the obtained data, and maternal age-specific PPV and NPV were estimated. RESULTS: Of the 45 504 cases, 44 263 cases fulfilling the study criteria were included. The mean maternal age and gestational weeks at the time of procedure were 38.5 years and 13.1 weeks, respectively. Sensitivities were 99.78% (95% confidence interval [95% CI]: 98.78-99.96), 99.12% (95% CI: 96.83-99.76), and 100% (95% CI: 88.30-100) for trisomies 21, 18, and 13, respectively. Specificities were more than 99.9% for trisomies 21, 18, and 13, respectively. Maternal age-specific PPVs were more than 93%, 77%, and 43% at the age of 35 years for trisomies 21, 18, and 13, respectively. CONCLUSION: The GeneTech NIPT data showed high sensitivity and specificity in the detection of fetal trisomies 21, 18, and 13 in high-risk pregnant women, and maternal age-specific PPVs were obtained. These results could provide more accurate and improved information regarding NIPT for genetic counseling in Japan.

Utility of 70-kV single-energy CT in depicting the extent of breast cancer for preoperative planning.

PURPOSE: To evaluate the detectability of breast cancer and visibility of the tumor extent using 70-kV single-energy contrast-enhanced (CE) breast computed tomography (70-kV CECT) compared with CE breast magnetic resonance imaging (CEMR). METHODS: Between 2013 and 2015, 110 patients with 112 breast cancer lesions who underwent breast surgery after undergoing both 70-kV CECT and CEMR were enrolled. The major axis lengths of the breast lesion were measured and compared with the pathologically determined major axes. Agreement in the measured major axes was evaluated using the intra-class correlation coefficient (ICC). RESULTS: Both 70-kV CECT and CEMR depicted all breast cancer lesions. The mean major axis was 3.0 (95% confidence interval [CI], 2.5-3.4) cm on CECT and 2.9 (2.6-3.3) cm on CEMR. The mean differences between the pathologically and radiologically measured major axes on 70-kV CECT and CEMR were 0.9 (0.7-1.1) and 1.0 (0.8-1.2) cm, respectively. The accuracy of the radiological major axes compared with the pathological major axes was 82.1% and 80.4% on CECT and CEMR, respectively (p = 0.81). The major axes on the two modalities demonstrated moderate agreement (ICC = 0.69, 95% CI 0.58-0.77). Pathologically and radiologically measured major axes on 70-kV CECT and CEMR demonstrated excellent agreement (ICC = 0.91, 95% CI 0.93-0.96). CONCLUSIONS: Low-tube voltage (70-kV) CECT is the preferred modality to identify breast cancer lesions and tumor extent for preoperative planning because it has a similar diagnostic ability to CEMR and can be performed in the supine position.

Qualitative investigation of the factors that generate ambivalent feelings in women who give birth after receiving negative results from non-invasive prenatal testing.

BACKGROUND: Women who receive negative results from non-invasive prenatal genetic testing (NIPT) may find that they later have mixed or ambivalent feelings, for example, feelings of accepting NIPT and regretting undergoing the test. This study aimed to investigate the factors generating ambivalent feelings among women who gave birth after having received negative results from NIPT. METHODS: A questionnaire was sent to women who received a negative NIPT result, and a contents analysis was conducted focusing on ambivalent expressions for those 1562 women who responded the questionnaire. The qualitative data gathered from the questionnaire were analyzed using the N-Vivo software package. RESULTS: Environmental factors, genetic counseling-related factors, and increased anticipatory anxiety, affected the feeling of ambivalence among pregnant women. Furthermore, pregnant women desired more information regarding the detailed prognosis for individuals with Down syndrome and living with them and/or termination, assuming the possibility that they were positive. CONCLUSIONS: Three major interrelated factors affected the feeling of ambivalence in women. Highlighting and discussing such factors during genetic counseling may resolve some of these ambivalences, thereby enhancing the quality of decisions made by pregnant women.

Intrauterine Fetal and Neonatal Death between Small for Date and Non-Small for Date in Small for Gestational Age Infants.

Objective: To demonstrate the differences in intrauterine fetal deaths and neonatal deaths between small for date (SFD) and Non-SFD neonates by applying a novel classification from both Z scores of placental weight (PW) and fetal/placental weight ratio (F/P) to small for gestational age (SGA) neonates. Methods: From 93,034 placentas/infants of mothers who vaginally delivered a singleton infant (Japan Perinatal Registry Network database 2013), SGA (n=7,780) was chosen according to the reference to Japanese neonatal growth chart. They were divided into two subgroups: SFD (body weight and height less than the 10th percentile, n=3,379) and Non-SFD (only body weight less than the 10th percentile, n=4,401). Z scores of PW and F/P based on the standard curves for sex-, parity-, and gestational-age-specific PW and F/P were calculated. The population was classified into 9 groups according to the combination of 'low vs. middle vs. high' i) PW Z score and ii) F/P Z score. In both i) and ii), ± 1.28 standard deviations in the Z scores were used for classifying low vs. middle vs. high, with 3×3 making 9 groups. From top-left to bottom-right, we labeled the groups as Group A to Group I. Results: SFD and Non-SFD neonates distributed in the same 6 groups (A, D, E, G, H, I). In group E, which was considered to be balanced placental and infant growth, the incidence of intrauterine fetal death was significantly higher in Non-SFD neonates than in SFD neonates. In group D, which was considered to be small placenta and balanced infant growth, the incidence of neonatal death was significantly higher in SFD neonates than in Non-SFD neonates. Conclusion: Assessment of SGA neonates by dividing them into SFD and Non-SFD neonates and application of a 9-group classification by PW and F/P Z scores were informative to understand the pathophysiological involvement of an imbalance between placental and fetal sizes.

Classification of factors involved in nonreportable results of noninvasive prenatal testing (NIPT) and prediction of success rate of second NIPT.

OBJECTIVE: To evaluate the reasons for nonreportable cell-free DNA (cfDNA) results in noninvasive prenatal testing (NIPT), we retrospectively studied maternal characteristics and other details associated with the results. METHODS: A multicenter retrospective cohort study in pregnant women undergoing NIPT by massively parallel sequencing (MPS) with failed cfDNA tests was performed between April 2013 and March 2017. The women's data and MPS results were analyzed in terms of maternal characteristics, test performance, fetal fraction (FF), z scores, anticoagulation therapy, and other details of the nonreportable cases. RESULTS: Overall, 110 (0.32%) of 34 626 pregnant women had nonreportable cfDNA test results after an initial blood sampling; 22 (20.0%) cases had a low FF (<4%), and 18 (16.4%) cases including those with a maternal malignancy, were found to have altered genomic profile. Approximately half of the cases with nonreportable results had borderline z score. Among the women with nonreportable results because of altered genomic profile, the success rate of retesting using a second blood sampling was relatively low (25.0%-33.3%). Thirteen (11.8%) of the women with nonreportable results had required hypodermic heparin injection. CONCLUSIONS: The classification of nonreportable results using cfDNA analysis is important to provide women with precise information and to reduce anxiety during pregnancy.

An azoospermic factor gene, Ddx3y and its paralog, Ddx3x are dispensable in germ cells for male fertility.

About 10% of male infertile patients show abnormalities in spermatogenesis. The microdeletion of azoospermia factor a (AZFa) region of the Y chromosome is thought to be a cause of spermatogenic failure. However, candidate gene responsible for the spermatogenic failure in AZFa deleted patients has not been elucidated yet. Using mice, we explored the function of Ddx3y, a strong candidate gene in the Azfa region, and Ddx3x, a Ddx3y paralog on the X chromosome, in spermatogenesis. We first generated Ddx3y KO male mice using CRISPR/Cas9 and found that the Ddx3y KO male mice show normal spermatogenesis, produce morphologically normal spermatozoa, and sire healthy offspring. Because Ddx3x KO males were embryonic lethal, we next generated chimeric mice, which contain Ddx3x and Ddx3y double KO (dKO) germ cells, and found that the dKO germ cells can differentiate into spermatozoa and transmit their mutant alleles to offspring by normal mating. We conclude that Ddx3x and Ddx3y are dispensable for spermatogenesis at least in mice. Unlike human, mice have an additional Ddx3y paralog D1pas1, that has been reported to be essential for spermatogenesis. These findings suggest that human and mouse DDX3 related proteins have distinct differences in their functions.

Differentiation between malignant and benign musculoskeletal tumors using diffusion kurtosis imaging.

OBJECTIVE: The purpose of this study was to evaluate differences in parameters of diffusion kurtosis imaging (DKI) and minimum apparent diffusion coefficient (ADCmin) between benign and malignant musculoskeletal tumors. MATERIALS AND METHODS: In this prospective study, 43 patients were scanned using a DKI protocol on a 3-T MR scanner. Eligibility criteria were: non-fatty, non-cystic soft tissue or osteolytic tumors; > 2 cm; location in the retroperitoneum, pelvis, leg, or neck; and no prior treatment. They were clinically or histologically diagnosed as benign (n = 27) or malignant (n = 16). In the DKI protocol, diffusion-weighted imaging was performed using four b values (0-2000 s/mm2) and 21 diffusion directions. Mean kurtosis (MK) values were calculated on the MR console. A recently developed software application enabling reliable calculation was used for DKI analysis. RESULTS: MK showed a strong correction with ADCmin (Spearman's rs = 0.95). Both MK and ADCmin values differed between benign and malignant tumors (p < 0.01). For benign and malignant tumors, the mean MK values (± SD) were 0.49 ± 0.17 and 1.14 ± 0.30, respectively, and ADCmin values were 1.54 ± 0.47 and 0.49 ± 0.17 × 10-3 mm2/s, respectively. At cutoffs of MK = 0.81 and ADCmin = 0.77 × 10-3 mm2/s, the specificity and sensitivity for diagnosis of malignant tumors were 96.3 and 93.8% for MK and 96.3 and 93.8% for ADCmin, respectively. The areas under the curve were 0.97 and 0.99 for MK and ADCmin, respectively (p = 0.31). CONCLUSIONS: MK and ADCmin showed high diagnostic accuracy and strong correlation, reflecting the accuracy of MK. However, no clear added value of DKI could be demonstrated in differentiating musculoskeletal tumors.

Impact of placental weight and fetal/placental weight ratio Z score on fetal growth and the perinatal outcome.

Objective: To classify the infants into 9 blocks based on the deviation of both placental weight (PW) and fetal/placental weight ratio (F/P) Z score and compared the incident rate of perinatal death in each of the small for date (SFD) vs. appropriate for date (AFD) vs. heavy for date (HFD) groups. Methods: The study population consisted of 93,034 placentas/infants from women who vaginally delivered a singleton infant. They were classified into 3 groups according to infants' weight: SFD (n=3,379), AFD (n=81,143) and HFD (n=8,512). The population was classified into 9 blocks according to the combination of i) low vs. middle vs. high placental weight (PW: a sex-, parity- and gestational-age-specific placental weight) and ii) low vs. middle vs. high F/P. In both i) and ii), ± 1.28 standard deviations in the in the Z scores was used for classifying low vs. middle vs. high, with 3x3 making 9 blocks. We then determined whether or not the perinatal death in each block differed among the three groups (SFD vs. AFD vs. HFD). Results: (1) The proportions of 'balanced growth of placenta and infant' (appropriate PW and F/P based on Z-score) were 37.6% in the SFD group, 78.8% in the AFD group, and 51.2% in HFD group. (2) The proportion of 'inappropriately heavy placenta' in the SFD group and that of 'inappropriately light placenta' in the HFD group were 0.3 and 0.4%, respectively, a very rare phenomenon. The proportions of 'inappropriately heavy placenta' and 'inappropriately light placenta' accounted for 4.1 and 5.5% in AFD group, respectively. (3) The rates of perinatal death in those with 'balanced growth of placenta and infant' were lowest in the SFD and AFD groups. Conclusion: By showing the fact that perinatal death was lowest in cases with balanced fetal/ placental growth, we conclude that 9-block categorization of PW and F/P based on deviation in the Z-score may be a candidate factor employable for understanding fetal and placental growth and perinatal deaths.

Influence of pregnancy on cardiac function and hemodynamics in women with Ebstein's anomaly.

INTRODUCTION: We examined the perinatal outcomes and right ventricular function before pregnancy, during pregnancy, and after delivery in women with Ebstein's anomaly. MATERIAL AND METHODS: We retrospectively investigated the clinical course and mode of delivery and monitored hemodynamic parameters throughout pregnancy in 17 women with Ebstein's anomaly who delivered at our institution during the period of 1995-2015. RESULTS: Eight women, including nine pregnancies, underwent elective cesarean section, and nine women, including 14 pregnancies, underwent vaginal delivery. Elective cesarean section was performed in cases with significant heart failure or arrhythmias and in the presence of more than two of the following: cardiothoracic ratio ≥60%, moderate or severe tricuspid valve regurgitation, tricuspid valve regurgitation pressure gradient ≥35 mmHg during pregnancy. The cardiothoracic ratio and tricuspid valve regurgitation pressure gradient significantly increased during pregnancy compared with prepregnancy values. The New York Heart Association classification deteriorated from class I to class II or III in five cases during pregnancy. CONCLUSIONS: Although pregnancy was relatively safe among women with Ebstein's anomaly, some women developed cyanosis, arrhythmia, and heart failure, leading to elective cesarean section. Monitoring clinical and hemodynamic changes throughout pregnancy is advised to minimize maternal cardiac risk and select the appropriate mode of delivery.

Pregnancy and delivery outcomes from patients with repaired anomalous origin of the left coronary artery from the pulmonary artery.

AIM: We investigated the clinical courses before and during pregnancy and after delivery in patients with repaired anomalous origin of the left coronary artery from the pulmonary artery to determine the impact of the hemodynamic changes and cardiac function on the selection of the appropriate mode of delivery. METHODS: Six patients who underwent coronary artery reimplantation delivered 10 infants. We scrutinized the patients' hemodynamic changes on echocardiographs and the plasma brain natriuretic peptide levels before and during pregnancy and after delivery, the perinatal outcomes and maternal and fetal events. RESULTS: All patients were asymptomatic and categorized as having New York Heart Association functional class I before pregnancy. In 8 of 10 pregnancies, vaginal deliveries were performed; two elective cesarean sections were performed because of symptomatic heart failure. The hemodynamic parameters were stable throughout pregnancy and postdelivery, and no maternal or fetal events occurred in the patients who underwent vaginal deliveries. One cesarean section patient developed significant heart failure during the late second and third trimesters, which was accompanied by hemodynamic changes, including increased brain natriuretic peptide levels, left ventricular diastolic dysfunction and worsening arrhythmias, and thrombosis and post-partum hemorrhage occurred postdelivery. The baby had intrauterine growth retardation and small for gestational age. None of the babies had congenital anomalies. CONCLUSION: Pregnancy was safe in most of the asymptomatic patients long after anomalous origin of the left coronary artery from the pulmonary artery was repaired. Symptomatic heart failure might occur during pregnancy in patients with persisting myocardial damage. Pregnancy and delivery should be carefully managed.

A delayed sperm penetration of cumulus layers by disruption of acrosin gene in rats.

Acrosin, the trypsin-like serine protease in the sperm acrosome, was long viewed as a key enzyme required for zona pellucida penetration to fertilize eggs. However, gene disruption experiments in mice surprisingly showed that acrosin-disrupted males were fertile. Thus, the acrosin was considered to be not an essential enzyme for fertilization in mice. However, the involvement of acrosin in fertilization has been suggested in various species such as rat, bull, and pig. Moreover, it has been reported that serine protease (including acrosin) activity in mice is significantly weaker compared to other species, including rats. We analyzed the role of acrosin by disrupting the rat acrosin gene. It was found that, unlike in mice, acrosin was almost the sole source of serine protease in rat spermatozoa. Nevertheless, the acrosin-disrupted males were not infertile. However, the litter size from acrosin-disrupted males was decreased compared to heterozygous mutant rats. Further investigation using an in vitro fertilization system revealed that the acrosin-disrupted spermatozoa possessed an equal ability to penetrate the zona pellucida with wild-type spermatozoa, but the cumulus cell dispersal was slower compared to wild-type and heterozygous spermatozoa. This delay was presumed to be the cause of the small litter size of acrosin-disrupted male rats.

Genetic Counseling for Couples Seeking Noninvasive Prenatal Testing in Japan: Experiences of Pregnant Women and their Partners.

The recent advent of noninvasive prenatal testing (NIPT) has had a significant impact in the field of prenatal testing. Although reports on pregnant women who used NIPT have accumulated, little is known about the experiences of their male partners. In this study, we assessed the experiences of couples who were expecting a child and undergoing NIPT, with a focus on both the pregnant women and their partners. Questionnaires were administered to 282 participants focusing on their specific experiences at three time points: after pre-test counseling (first visit), when undergoing NIPT (second visit), and when results were received (third visit). Responses were analyzed to assess the differences between pregnant women and their partners. We found that more partners selected "family" as their first information source about NIPT and "my partner" as the first person to request NIPT than did pregnant women (35.6 vs. 5.9 %; p < 0.001 and 19.3 vs.1.5 %; p < 0.001). However, pregnant women more often consulted others including family and friends until undergoing NIPT than their partners (89.1 vs. 54.6 %; p < 0.001). Our findings suggest that it is important to encourage male partners to be actively involved in the NIPT decision-making process. Differences between pregnant women and their partners should be seriously considered when providing genetic counseling.

Current status of non-invasive prenatal testing in Japan.

AIM: The purpose of this study was to report the 3-year experience of a nationwide demonstration project to introduce non-invasive prenatal testing (NIPT) of maternal plasma for aneuploidy, and review the current status of NIPT in Japan. METHODS: Tests were conducted to detect aneuploidy in high-risk pregnant women, and adequate genetic counseling was provided. The clinical data, test results, and pregnancy outcomes were recorded. We discuss the problems of NIPT on the basis of published reports and meta-analyses. RESULTS: From April 2013 to March 2016, 30 613 tests were conducted at 55 medical sites participating in a multicenter clinical study. Among the 30 613 women tested, 554 were positive (1.81%) and 30 021 were negative (98.1%) for aneuploidy. Of the 289, 128, and 44 women who tested positive for trisomies 21, 18, and 13, respectively, and underwent definitive testing, 279 (96.5%), 106 (82.8%), and 28 (63.6%) were determined to have a true-positive result. For the 13 481 women with negative result and whose progress could be traced, two had a false-negative result (0.02%). The tests were performed on the condition that a standard level of genetic counseling be provided at hospitals. CONCLUSION: Here, we report on the 3-year nationwide experience with NIPT in Japan. It is important to establish a genetic counseling system to enable women to make informed decisions regarding prenatal testing. Moreover, a welfare system is warranted to support women who decide to give birth to and raise children with chromosomal diseases.

A survey on awareness of genetic counseling for non-invasive prenatal testing: the first year experience in Japan.

The purpose of this study is to summarize the results from a survey on awareness of genetic counseling for pregnant women who wish to receive non-invasive prenatal testing (NIPT) in Japan. As a component of a clinical study by the Japan NIPT Consortium, genetic counseling was conducted for women who wished to receive NIPT, and a questionnaire concerning both NIPT and genetic counseling was given twice: once after pre-test counseling and again when test results were reported. The responses of 7292 women were analyzed. They expressed high satisfaction with the genetic counseling system of the NIPT Consortium (94%). The number of respondents who indicated that genetic counseling is necessary for NIPT increased over time. Furthermore, they highly valued genetic counseling provided by skilled clinicians, such as clinical geneticists or genetic counselors. The vast majority (90%) responded that there was sufficient opportunity to consider the test ahead of time. Meanwhile, women who received positive test results had a poor opinion and expressed a low-degree satisfaction. We confirmed that the pre-test genetic counseling that we conducted creates an opportunity for pregnant women to sufficiently consider prenatal testing, promotes its understanding and has possibilities to effectively facilitate informed decision making after adequate consideration. A more careful and thorough approach is considered to be necessary for women who received positive test results.

Factors affecting parental decisions to terminate pregnancy in the presence of chromosome abnormalities: a Japanese multicenter study.

OBJECTIVE: To investigate the rates of termination of pregnancy (TOP) for fetal chromosomal abnormalities and factors related to such parental decision in Japan. METHODS: A multicenter retrospective cohort study of chromosomal abnormalities diagnosed before 22 weeks of gestation between April 2008 and March 2015. The pregnancy outcomes and parental decisions were investigated. RESULTS: Among 931 fetuses with chromosome abnormalities, the total TOP rate was 75.1% (699/931). TOP rates were 89.3% (585/655) in autosomal aneuploidies and 40.8% (51/125) in sex chromosome aneuploidies. Trisomy 21 showed the highest TOP rate (93.8% [390/416]) followed by trisomy 18 (84.5% [163/193]) and trisomy 13 (71.9% [23/32]). Indications for karyotyping were related to a parental decision for TOP (p < 0.01): in cases of autosomal aneuploidy, with fetal abnormal ultrasound findings as the reference value, diagnoses made following positive results at non-invasive prenatal testing (adjusted odds ratio [OR]: 13.7, 95% confidence interval [CI] 4.07-45.9) and those because of advanced maternal age (adj. OR 2.91, 95% CI 1.15-7.35) were significantly more frequent. CONCLUSIONS: In Japan, pregnancies with fetal trisomy 21 are more likely to result in TOP when diagnosed in utero than any other chromosome anomaly. The indications for prenatal karyotyping strongly affect the decision to TOP. © 2016 John Wiley & Sons, Ltd.

Quality Improvement of Dual-Energy Lung Perfusion Image by Reduction of Low-Energy X-Ray Spectrum: An Evaluation on Clinical Images.

BACKGROUND: The effects of the reduction of low-energy X-ray spectrum on lung perfusion images created by dual-energy CT have not been well evaluated. The aim of this study is to investigate the reliability of lung perfusion blood volume (PBV) images created by dual-energy CT (DECT) equipped with or without a tin filter, focusing on its accuracy adjacent to high-attenuation areas. MATERIAL/METHODS: Among 176 patients who underwent DECT for suspicion of pulmonary embolism, 38 patients (mean age, 64; range, 16 to 83 years) without apparent evidence of pulmonary embolism were evaluated in this study. They underwent DECT at 100/140 kVp with a tin filter on 140 kVp tube (Group A; n=18) or at 80/140 kVp without the filter (Group B; n=20). On the lung PBV images, the degrees of artifacts - pulmonary enhancement defect (PED) and pseudo-enhancement in the trachea (PTE) adjacent to the vena cava were evaluated using a four-point scale (0=minimal to 3=prominent). RESULTS: The mean degrees of artifact in Group A were significantly lower than those in Group B (0.8 vs. 1.9; P<0.0001 for PED, respectively, and 1.1 vs. 2.2; P<0.0001 for TPE, respectively). The mean CTDIvols were 4.90±1.14 and 12.98±3.15 mGy (P<0.0001) for Group A and Group B, respectively. CONCLUSIONS: The quality and accuracy of dual-energy lung perfusion image will be improved by using the tin filter technique.