Publications by authors named "Reiko Neki"
Unlabelled: Inherited antithrombin deficiency is an autosomal dominant thrombophilia, resulting from genetic variations in the serpin family C member 1 (SERPINC1) gene. Antithrombin deficiency increases the risk of venous thromboembolism (VTE) compared to the general population. In this report, a novel missense variant of , c.
View Article and Find Full Text PDFAntithrombin resistance (ATR) is a newly identified strong genetic predisposition to venous thromboembolism (VTE) caused by genetic variations in prothrombin with substitutions of Arg at position 596 with either Leu, Gln, or Trp. In the present report, we identified a missense variant p.Arg596Gln in 3 patients from 2 families with unprovoked VTE who each experienced their first VTE event at 19, 67, and 19 years old.
View Article and Find Full Text PDFAim: 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.
Clinical guidance for peripartum management of patients with hereditary thrombophilia.
J Obstet Gynaecol Res
September 2021
Hereditary thrombophilia is a condition in which individuals are susceptible to the formation of thrombi due to a hereditary deficiency in anticoagulant factors, antithrombin (AT), protein C (PC), or protein S (PS). Many Japanese thrombophilia patients have PS deficiency, especially PS p.K196E (also called as PS Tokushima), which is exclusive to the Japanese population, and thrombosis sometimes occurs during pregnancy.
View Article and Find Full Text PDFStroke during pregnancy and puerperium among Japanese women: a single-center registry.
J Matern Fetal Neonatal Med
September 2021
Background: Stroke is one of the major causes of maternal death. This study aimed to analyze the maternal and fetal outcomes of stroke occurred during pregnancy and puerperium.
Methods: We conducted a retrospective analysis of patients admitted to our perinatology center between 1982 and 2012 with a diagnosis of acute cerebral stroke during pregnancy or within 6 weeks postpartum.
Article Synopsis
- - Heparin anticoagulant therapy during pregnancy poses bleeding risks, leading researchers to implement a less-intensive protocol using unfractionated heparin (UFH) with specific therapeutic targets for APTT ratio and antithrombin activity.
- - A study involving ten pregnant Japanese patients showed that seven patients (heparin-sensitive group) maintained therapeutic levels, while three patients (heparin-resistant group) struggled, largely due to conditions like antithrombin deficiency.
- - Despite the challenges in the HR group, there were no major bleeding incidents or thromboembolic episodes in either group, suggesting that this less-intensive anticoagulation approach can be effective, especially for those who respond well to heparin.
Article Synopsis
- * A study analyzed data from 36 pregnant women with CAVB to identify factors linked to postpartum cardiac issues; 14.3% of pregnancies resulted in significant events like heart failure or the need for a permanent pacemaker.
- * Key predictive factors for these postpartum complications included a ventricular pause during the perinatal period and a family history of CAVB, emphasizing the need for close monitoring after delivery.
Aim: To predict the prognosis of infants with congenital heart disease, accurate prenatal diagnosis of structural abnormality and heart failure are both necessary. The aim of this study was to investigate whether cardiovascular profile (CVP) and biophysical profile (BP) scores are useful for predicting prognosis in infants with congenital heart defect (CHD).
Methods: A retrospective review of singletons prenatally diagnosed with CHD at a tertiary pediatric cardiac center between 2011 and 2015 was undertaken.
Maternal and fetal outcomes in pregnancy complicated with Eisenmenger syndrome.
Taiwan J Obstet Gynecol
March 2019
Article Synopsis
- The study aimed to identify risk factors for pregnancy complications in women diagnosed with Eisenmenger syndrome (ES), focusing on a group of 15 patients from 1982 to 2013.
- The results showed that while 10 women chose to terminate their pregnancies, 5 who continued faced severe complications like worsening cyanosis and heart symptoms, prompting early cesarean sections.
- The findings indicate that pregnancy in women with ES carries significant risks, necessitating careful monitoring and intervention due to potential heart failure and oxygenation issues that can arise as early as the second trimester.
Article Synopsis
- * The overall recurrence rate of CHD in these babies was found to be 3.1%, with specific rates varying depending on the type of maternal CHD, significantly higher than in the general population.
- * Notably, nearly 50% of neonates with CHD exhibited the same heart defect as their mothers, with the highest correlations seen in conditions like pulmonary stenosis (PS) and coarctation of the aorta (CoA).
Article Synopsis
- A study was conducted to understand why some noninvasive prenatal tests (NIPT) yield nonreportable results by looking at maternal characteristics and related details.
- Out of 34,626 pregnant women tested, 110 (0.32%) had nonreportable cfDNA results, primarily due to low fetal fraction or altered genomic profiles.
- The research highlights the importance of classifying nonreportable results to offer clearer information and lessen anxiety for expecting mothers.
Article Synopsis
- The arterial switch operation (ASO) has become the standard treatment for pregnant women with dextro-transposition of the great arteries (d-TGA), replacing the older atrial switch operation.
- A study of 10 women showed that out of 20 pregnancies, 14 were successful with a majority resulting in term deliveries, although some faced complications like preterm labor and cardiovascular events.
- Findings suggest that while older age and high BNP levels increase risks during pregnancy, overall, women post-ASO have better mid-term outcomes compared to those who underwent the atrial switch operation.
Article Synopsis
- * Over a year, no major cardiovascular side effects were reported, and most women experienced reduced menstrual blood loss and improved hemoglobin levels.
- * The LNG-IUS showed a high continuation rate of 97% over 24 months, indicating strong tolerance and potential benefits in preventing iron deficiency anemia in this population.
Article Synopsis
- The study focuses on three pregnant Japanese women who were diagnosed with left ventricular noncompaction cardiomyopathy (LVNC) before pregnancy, shedding light on the condition's effects during pregnancy.
- Each case had different challenges: one faced severe complications leading to pregnancy termination, another had a cesarean delivery due to placenta previa, and the third was induced early because of heart function decline.
- The findings suggest that adverse pregnancy outcomes are more related to the specific cardiomyopathy phenotypes rather than noncompaction itself, indicating that careful monitoring and assessment of anticoagulation needs are crucial for better pregnancy outcomes.
Fetal cell-free DNA fraction in maternal plasma for the prediction of hypertensive disorders of pregnancy.
Eur J Obstet Gynecol Reprod Biol
May 2018
Article Synopsis
- - The study aimed to evaluate how fetal fractions in non-invasive prenatal testing (NIPT) can help predict pregnancy complications like gestational diabetes and hypertension by comparing results from different gestational ages and maternal characteristics.
- - Conducted as a multicenter cohort study, it analyzed data from 5,582 women with negative NIPT results to explore the links between fetal fractions and pregnancy outcomes such as miscarriages and complications.
- - Results indicated that women who developed hypertensive disorders tended to have lower fetal fractions early in pregnancy, but using this marker to predict such conditions proved challenging.
Article Synopsis
- Implantable cardioverter-defibrillators (ICDs) can monitor intrathoracic impedance to detect fluid volume changes related to heart failure, which can be especially relevant during pregnancy.
- A case study of a 39-year-old pregnant woman with an ICD showed increased right ventricular pressure and elevated brain natriuretic peptide levels, indicating heart failure, particularly postpartum.
- Despite physiological changes during pregnancy, the ICD successfully identified heart failure, suggesting that intrathoracic impedance monitoring is a useful tool in managing heart health in pregnant women.
Prediction of postnatal arrhythmia in fetuses with cardiac rhabdomyoma.
J Matern Fetal Neonatal Med
August 2019
Objectives: Fetal cardiac rhabdomyomas are rare but well-known to be associated with arrhythmia or conduction abnormalities. However, since in utero electrophysiological information is quite limited, it remains unclear which type of rhabdomyoma will develop arrhythmia after birth. The aim of this study is to identify factors that predict postnatal arrhythmia requiring therapy in fetuses with cardiac rhabdomyoma.
View Article and Find Full Text PDFAim: To clarify the perinatal outcomes in pregnancy complicated with intracranial arteriovenous malformation (i-AVM).
Methods: A retrospective study was performed in 36 pregnancies complicated by i-AVM from 1981 to 2013 at one institution.
Results: In total, 6 women miscarried, and 30 had live births.
Article Synopsis
- - The study focused on a 3-year nationwide project in Japan to implement non-invasive prenatal testing (NIPT) for detecting aneuploidy in high-risk pregnant women, with proper genetic counseling provided.
- - Out of 30,613 tests conducted, only 1.81% were positive for aneuploidy, with high true-positive rates for trisomies, and a very low false-negative rate (0.02%).
- - The research emphasizes the need for a robust genetic counseling system and a supportive welfare framework to assist women who choose to have children with chromosomal conditions.
Objectives: To investigate the predictive factors of urgent cesarean delivery (CD) due to acute intrapartum non-reassuring fetal status (NRFS) in infants with congenital heart defects (CHDs).
Study Design: This was a retrospective review of 199 singletons prenatally diagnosed with a CHD and for whom vaginal delivery was attempted in our institution between 2007 and 2014. A cardiovascular profile (CVP) score was used to assess fetal heart failure.