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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. [ABSTRACT FROM AUTHOR]

The purpose of this study was to compare digit lengths and proximal phalanx lengths in newborn infants by using ultrasonography (USG) and to examine sex differences between the ratio of the second digit (2D) and fourth digit (4D) of digit length and that of proximal phalanx length and the associations of digit length and proximal phalanx length with birth weight and birth height. Sixty newborn infants (28 males and 32 females) were recruited. Digit lengths were measured by using a transparent ruler and proximal phalanx lengths were measured by using USG. There were significant correlations between digit length and proximal phalanx length in the left and right hands. There was no significant correlation between 2D:4D ratios of digit lengths and 2D:4D ratios of proximal phalanx lengths measured by using USG. In males, birth height was significantly associated with right fourth proximal phalanx length and with left second and fourth proximal phalanx lengths. Birth weight was significantly associated with proximal phalanx length in males. Proximal phalanx length measured by using USG was significantly associated with digit length in newborn infants. Hormonal exposure before birth may be involved in the associations of proximal phalanx length with birth weight and height in males.Impact statementWhat is already known on this subject? The ratio of the second digit (2D) and fourth digit (4D) has been used postnatally to provide a retrospective indication of the foetal hormonal environment. Digit lengths have been measured by using a direct method, photocopies, digital scans and radiographs, but the results of a study on measurement of digit lengths by using ultrasonography (USG) have not been reported.What do the results of this study add? Proximal phalanx length measured by using USG was significantly associated with digit length in newborn infants. In males, birth height was significantly associated with right fourth proximal phalanx length and with left second and fourth proximal phalanx lengths. Birth weight was significantly associated with proximal phalanx length in males.What are the implications of these findings for clinical practice and/or further research? Measurement of proximal phalanx length by using USG may be useful for a study on gender differences in foetal development and the foetal hormonal environment. Hormonal exposure before birth may be involved in the associations of proximal phalanx length with birth weight and height in males. [ABSTRACT FROM AUTHOR]

The purpose of this study was to investigate the differences in plasma concentrations of adipokines in pregnant women with varying body mass indices (BMIs) with every trimester. In this study, 89 pregnant women were recruited. These women were divided into lean, normal, and overweight/obese groups. Serum levels of adiponectin, resistin, leptin, and visfatin were measured in the first, second, and third trimesters. In the overweight/obese group, adiponectin, resistin, and visfatin concentrations were not significantly affected by advanced gestational age. Leptin concentrations in the third trimester were significantly higher than those in the first and second trimesters. Adiponectin concentrations in the overweight/obese group were significantly lower than those in the lean group in the first and second trimesters. Visfatin concentrations in the overweight/obese group were significantly higher than those in the normal group in the first trimester. Leptin concentrations in the overweight/obese group were significantly higher than those in the lean and normal groups in all trimesters. In the first trimester, the largest differences were observed between the overweight/obese group compared to the lean and normal group. The changes in adipokines in overweight/obese groups are different from those in lean and normal groups. [ABSTRACT FROM AUTHOR]

Although endometrial cancer is extremely rare during pregnancy, the placental metastasis of endometrial cancer is even rarer. The current study presents a case of endometrial carcinoma that was diagnosed through the pathological examination of the placenta. A 35-year-old primipara woman who underwent frozen-thawed embryo transfer at the Keiai Ladies Clinic in Tokushima prefecture (Japan) received regular prenatal check-ups. She was transferred to Tokushima University Hospital for perinatal management due to the preterm premature rupture of membranes at 21 weeks and 6 days gestation. The administration of antibiotics and tocolytic agents was continued; however, labor pain occurred at 23 weeks and 3 days gestation, and a female fetus weighing 524 g was delivered vaginally. The placenta weighed 262 g and had no macroscopic abnormalities. It was submitted for pathological examination, which revealed metastatic adenocarcinoma (clear cell carcinoma suspected). The patient was subsequently diagnosed with endometrial cancer (stage I suspected), and underwent abdominal total hysterectomy, bilateral salpingo-oophorectomy, partial omentectomy and pelvic lymph node dissection. The final diagnosis was stage IA endometrial cancer (endometrioid carcinoma, G2). At 1 year after surgery, there was no evidence of disease. The present case highlights the importance of considering the emergence of endometrial cancer during pregnancy. [ABSTRACT FROM AUTHOR]

Oxytocin (OT) regulates food intake and body weight, particularly in obese individuals. Decreases in the effects of OT have recently been implicated in metabolic disturbances, and the administration of estradiol (E2) increased serum OT levels. Although weight gain is frequently observed in perimenopausal women, endogenous OT levels remain unclear. Therefore, we herein compared endogenous levels of hypothalamic and serum OT between young and middle-aged perimenopausal female rats and examined the relationship between serum estrogen and leptin levels. Body weight and visceral and subcutaneous fat weights were higher in middle-aged rats. Although no significant differences were observed in serum OT and E2 levels, serum leptin levels and hypothalamic mRNA levels of OT and the OT receptor (OTR) were significantly higher in middle-aged rats than in young rats. Serum OT levels did not correlate with hypothalamic OT mRNA levels or serum E2 levels. E2 maintains serum OT levels in perimenopausal rats, and other factors may elevate hypothalamic OT/OTR mRNA levels. Increases in body and fat weights in perimenopausal rats may be attributed to factors other than OT. Therefore, the administration of OT alone may not be sufficient to prevent metabolic disorders induced by the perimenopausal status. J. Med. Invest. 71 : 246-250, August, 2024.

A survey on the incidence of multiple pregnancies and neonatal outcomes by assisted reproductive technology (ART) and non-ART fertility treatments was performed in 2011 and 2021. Questionnaires were sent to all institutions with obstetrics and gynecology departments in Tokushima Prefecture, Japan, to collect data on fertility treatments and neonatal outcomes in 2011 and 2021. Non-ART fertility treatments were classified into ovarian stimulation (treatments for cases without ovulation disorder) and ovulation induction (treatments for cases with ovulation disorder). Among all pregnancies, the multiple pregnancy rates in 2011 were 7.7% for ovarian stimulation, 5.5% for ovulation induction, and 8.4% for ART, whereas those in 2021 were 3.8%, 2.3%, and 1.9%, respectively. The rates of triplet pregnancies in 2011 were 0.85% for ovulation induction, 2.4% for ovulation induction, and 1.4% for ART, whereas those in 2021 were 0% for all treatments. The rates of low birth weight, admission to a neonatal intensive care unit, and neonatal death in 2011 were 53.8%, 9.61%, and 9.61%, respectively, whereas those in 2021 were 40.9%, 22.7%, and 0%, respectively. These findings indicate that rates of multiple pregnancies, including higher-order multiple pregnancies, by fertility treatment have decreased over the last 10 years in Tokushima Prefecture. However, some adverse neonatal outcomes have still occurred. J. Med. Invest. 71 : 251-253, August, 2024.

Objectives: Before endometriosis surgery, it is important to identify deep infiltrating endometriosis (DIE) to assess the surgical difficulty. Preoperative magnetic resonance imaging (MRI) was used to determine which findings are useful in predicting DIE., Materials and Methods: Between 2008 and 2016, 54 patients with adenomyosis underwent total laparoscopic hysterectomy at our hospital. We retrospectively evaluated the intraoperative findings and magnetic resonance imaging (MR) images. The MR images were scored based on the presence of five findings: retroflexed uterus, elevated posterior vaginal fornix, intestinal tethering in the direction of the uterus, faint strands between the uterus and intestine, and fibrotic nodules covering the serosal surface of the uterus., Results: Of the five findings, intestinal tethering and faint strands between the uterus and intestine showed a sensitivity of 73% and a specificity of 91%-100%, indicating the usefulness of these findings for detecting deep endometriosis lesions. However, finding a retroflexed uterus did not contribute to DIE lesion detection. The sensitivities of an elevated posterior fornix and fibrotic nodules covering the surface of the uterus were as low as 46%-59%, and their specificities were as high as 84%-91%., Conclusion: Preoperative preparation is essential for patients with intestinal tethering or faint strands between the uterus and intestine on preoperative MRI after obtaining appropriate informed consent., Competing Interests: There are no conflicts of interest., (Copyright: © 2023 Gynecology and Minimally Invasive Therapy.)

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.