Kisspeptin administration may promote precopulatory behavior in male rats independently or supplementally to testosterone and contribute to proceptive behavior in female partners, reducing mating failure.

Kisspeptin is a peptide that plays an important role through its effects on the hypothalamus-pituitary-gonadal (HPG) axis. It has also been implicated in sexual behavior. The present study investigated whether the relationship between kisspeptin and sexual behavior is independent of the HPG axis, i.e., testosterone. Sexual behavior was examined after the administration of kisspeptin to gonadally intact male rats and gonadectomized male rats that received testosterone supplementation. Other male rats were also observed for sexual behavior once a week from 2 to 5 weeks after gonadectomy and receiving kisspeptin for the sixth postoperative week. Sexual behavior in female rats serving as the partner for each male was also observed. Female rats were not administered kisspeptin in the present study. The results obtained showed that the administration of kisspeptin increased precopulatory behavior in gonadally intact male rats and gonadectomized male rats that received testosterone supplementation and proceptive behavior in their female partners. Precopulatory behavior in males and receptive behavior in females increased, while copulatory behavior in males and receptive behavior in females remained unchanged. Furthermore, the administration of kisspeptin increased precopulatory behavior in gonadectomized males, but did not affect receptive behavior in females. These results suggest that kisspeptin affected males independently and/or supplementally to testosterone, and also that changes in the presence of testosterone in males had an impact on proceptive behavior in their female partners. In conclusion, kisspeptin may involve an as-yet-unidentified neural pathway in sexual desire independently of the HPG axis.

Expression of SMADs in orthotopic human endometrium, ovarian endometriosis, and endometriotic lesions in a murine model.

Activin A promotes the development of endometriotic lesions in a murine model of endometriosis, and the immunohistochemical localization of phosphorylated suppressor of mothers against decapentaplegic homolog 2/3 (pSMAD2/3) complex in endometriotic lesions has been reported. Activin may therefore be involved in the development and proliferation of endometriotic cells via the SMAD signaling pathway. However, few detailed reports exist on SMAD7 expression in endometriosis. The purpose of this study was to investigate the expression of pSMAD2/3 or pSMAD3 and SMAD7 in the orthotopic human endometrium, ovarian endometriosis, and endometriotic lesions in a murine model and the effect of activin A on pSMAD2/3 and SMAD7 expression. We established an endometriosis murine model via the intraperitoneal administration of endometrial tissue and blood from donor mice. Activin A was intraperitoneally administered to the activin group. We immunohistochemically evaluated orthotopic endometria, ovarian endometriotic tissues, and endometriotic lesions in the murine model followed by western blotting. We found that pSMAD3 and SMAD7 were expressed in ovarian endometriosis and orthotopic endometria from patients with and without endometriosis. In the murine model, endometriotic lesions expressed pSMAD2/3 and SMAD7 in the activin and control groups, and higher SMAD7 expression was found in the activin group. To the best of our knowledge, this study is the first to show that SMAD7 expression is upregulated in endometriosis. In conclusion, these results suggest that activin A activates the SMAD signaling pathway and promotes the development of endometriotic lesions, thus identifying SMAD7 as a potential therapeutic target for endometriosis.

Oncologic, fertility, and obstetric outcomes with MPA therapy in women with endometrial cancer and atypical endometrial hyperplasia.

AIM: Medroxyprogesterone acetate (MPA) is one of the treatments of atypical endometrial hyperplasia (AEH) and endometrial cancer (EC) to preserve the fertility. Efficacy of MPA therapy and fertility and obstetric outcomes after remission were evaluated in EC or AEH patients. METHODS: Among patients diagnosed with EC or AEH at Tokushima University Hospital between January 2002 and October 2020, we retrospectively analyzed patients, ages range from 26 to 40, who underwent conservative management using MPA (400-600 mg/day). RESULTS: In total, 19 patients underwent MPA therapy. The 18 (94%) patients achieved complete response (CR), and 1 (5%) patient achieved partial response (PR). Relapse occurred in 6 (32%) patients who had achieved CR. Of the patients who relapsed, 4 patients resumed MPA therapy and were in remission. Among 19 patients, 13 patients attempted pregnancy after CR. All of them underwent ovulation induction or assisted reproductive technology. As a result, 20 pregnancies in 10 (77%) patients and 12 live births in 9 (69%) patients were achieved. Rate of spontaneous abortion was 35% (7/20). CONCLUSIONS: MPA therapy can produce a high remission rate, and be considered an effective treatment for patients who wish fertility preservation. Around 70% patients who attempt to pregnancy can have at least one baby by infertility treatments. Because recurrence rate after MPA therapy is high, it may be desirable to aim for early pregnancy by active intervention.

Sonographic confirmation of placental detachment during placental delivery for uterine inversion prevention.

AIM: To evaluate the usefulness of transabdominal sonographic confirmation of placental detachment in preventing uterine inversion. METHODS: This was 14-year retrospective cohort study that included women who had transvaginal deliveries in our hospital. We introduced routine transabdominal ultrasonography during placental delivery to prevent uterine inversion. Followed by the confirmation of placental detachment by ultrasonography, we started placental delivery procedure. The frequency of uterine inversion during placental delivery was compared before and after the ultrasonography was introduced. Moreover, the duration of the third stage of labor and bleeding volume during labor were compared between the ultrasonography performing group (USG group) and the non-performing group (non-USG groups). RESULTS: Five thousand and eighty-one women, including 1724 and 3357 women who delivered before and after the ultrasonography was introduced, respectively. The frequency of uterine inversion after the introduction of the ultrasonography system was significantly reduced compared to that before the introduction (0.03% vs. 0.23%, p = 0.03). Even after the introduction of ultrasonography, the actual rate of performing ultrasonography remained 54.1% due to various restrictions. The mean duration of the third stage of labor in the USG group was slightly longer than that in the non-USG group (8.4 ± 5.0 vs. 6.8 ± 3.6, p < 0.01). The mean bleeding volume during labor in the USG group was higher compared with the non-USG group (457 ± 329 vs. 418 ± 285, p < 0.01). CONCLUSIONS: Transabdominal sonographic confirmation of placental detachment may be useful in preventing uterine inversion.

Age-Dependent Changes in the Effects of Androgens on Female Metabolic and Body Weight Regulation Systems in Humans and Laboratory Animals.

In recent years, the effects of androgens on metabolic and body weight regulation systems and their underlying mechanisms have been gradually revealed in females. In women and experimental animals of reproductive age, androgen excess can adversely affect metabolic functioning, appetite, and body weight regulation. In addition, excess androgens can increase the risk of metabolic disorders, such as obesity, insulin resistance, and diabetes. These unfavorable effects of androgens are induced by alterations in the actions of hypothalamic appetite-regulatory factors, reductions in energy expenditure, insulin resistance in skeletal muscle, and ß-cell dysfunction. Interestingly, these unfavorable effects of androgens on metabolic and body-weight regulation systems are neither observed nor evident in ovariectomized animals and post-menopausal women, indicating that the adverse effects of androgens might be dependent on the estrogen milieu. Recent findings may provide novel sex- and age-specific strategies for treating metabolic diseases.

Transgender man receiving testosterone treatment became pregnant and delivered a girl: A case report.

Many transgender men receive testosterone therapy to achieve virilization. The therapy is often mistaken for having a contraceptive effect because it causes amenorrhea. However, some treated patients become pregnant, which is not well known. A 25-year-old transgender man who had received testosterone for 3 years had an unplanned pregnancy during discontinuation of treatment. He was unaware of his pregnancy, resumed testosterone, and continued treatment until pregnancy was confirmed. His female child was exposed to androgens during the fetal period; thus, careful, long-term observation was required. He developed insomnia and depression during the postpartum, and giving birth made it difficult for him to change his family register to male. Transgender men can become pregnant through sexual intercourse with biological men, even during hormone replacement therapy, so correct contraception is necessary to avoid unwanted pregnancies. Transgender sex education is important to increase awareness of this issue among individuals and medical professionals.

Monochorionic Dizygotic Twins Conceived Spontaneously Showed Chimerism in Karyotype and Blood Group Type.

We report a very rare case of monochorionic dizygotic twins conceived spontaneously. The fetuses were sex-discordant in ultrasonography despite being monochorionic twins. After birth, the girl and boy showed normal phenotypes but they showed blood chimerism in karyotype and blood group type.

Evaluation of rehabilitation exercise effects by using gradation-based skeletal muscle echo intensity in older individuals: a one-group before-and-after trial study.

BACKGROUND: Higher muscle echo intensity (EI) reflects higher content of fat and/or connective tissue within skeletal muscle, eventually inducing lower muscle strength, physical dysfunction, and metabolic impairment. Continuous exercise decreases muscle EI in older individuals; however, it is not well understood how several months' rehabilitation exercise affects gradation-based EI. The purpose of this study was to investigate the effects of 6 months of rehabilitation exercise on gradation-based higher and lower EI in older men and women. METHODS: Twenty-seven men and women (7 men, 20 women; age, 75.6 ± 6.4 years; height, 154.3 ± 8.5 cm; weight, 55.8 ± 9.7 kg) participated in this study. This study was a one-group before-and-after trial. They needed long-term care for activities of daily living. They performed rehabilitation exercises consisting of resistance exercises using a hydraulic resistance machine, stretching, and aerobic exercises using a recumbent bicycle once or twice a week for 6 months. B-mode ultrasonographic transverse image was taken from thigh muscles, e.g., rectus femoris, vastus lateralis, and biceps femoris. We calculated gradation-based cross-sectional area (CSA) from thigh muscles by dividing 256 greyscale level to 10 different components levels (e.g., 0-24, 25-49, 50-74, …, 200-224 and 225-249 a.u.). RESULTS: Lowest EI (e.g., 0-24 a.u.) CSA of thigh muscle was significantly increased after the exercise (0.3 ± 0.3 to 1.0 ± 0.8 cm2; P < 0.05). Middle to higher EI (e.g., 50-74, 75-99, 100-124, 125-149, 150-174, 175-199 and 200-224 a.u.) CSAs were significantly decreased from 23.0 to 68.7% after the exercise (P < 0.05). CONCLUSIONS: Several months' rehabilitation exercise affected both lower and higher EI in older men and women. This result suggests that rehabilitation exercise changes muscle composition by increasing contractile muscle tissue and decreasing fat and connective tissues.

Sonographic detection and localization of fistulas in fetuses with imperforate anus: Case reports.

Imperforate anus (IA) requires urgent treatment after birth, which is dependent on the type of IA, and is also frequently associated with other congenital abnormalities. Most patients with IA have an accompanying fistula, whose location is strongly associated with the type of IA. The fistula location can be a key factor in defining appropriate treatment, especially in neonates presenting with severe associated abnormalities. Herein, we report three cases of IA in which fistulas were detected and localized prenatally. Examination of the fetal pelvis through the sagittal or coronal view, using high-frequency transducers, revealed the location of the fistulas. In particular, the sagittal view obtained using the fetal infracoccygeal or perineal approach allowed us to determine the precise anatomy of the fistulas. Neonatal assessment confirmed the fistula locations. We recommend using the sagittal view obtained using the fetal infracoccygeal or perineal approach with high-frequency transducers to assess fistulas in fetuses with IA.

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.

Usefulness of measurement of proximal phalanx length by using ultrasonography in newborn infants.

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.

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.

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.

Plasma adipokine concentrations in overweight/obese pregnant women: a longitudinal study.

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.

Muscle quality characteristics of muscles in the thigh, upper arm and lower back in elderly men and women.

PURPOSE: The ratio of fat within skeletal muscle is an important parameter that is indicative of muscle quality, and can be assessed using ultrasonography to measure echo intensity (EI). Muscle EI indicates muscle strength and risk of physical dysfunction; however, this observation was determined following examinations of only selected muscle. The purpose of this study was to investigate the EI characteristics of muscles in several regions in elderly men and women, using physical function tests and serum cholesterol levels. METHODS: Twenty-two men and women (age 78 ± 8 years) participated in this study. The EIs were calculated from rectus femoris (RF), biceps femoris (BF) triceps brachii (TB) and multifidus (MF) using B-mode transverse ultrasound images. Seven functional tests (isometric knee-extension peak torque, functional reach, sit-to-stand, 5-m normal/maximal speed walking, handgrip strength and timed up-and-go) and blood lipid components including adipocytokines were measured in all participants. RESULTS: A statistically significant correlation between EI of the RF, TB and BF was observed (r = 0.46-0.50, P < 0.05), but not between EI of the MF and that of other muscles. EI of muscles of the limbs, which was averaged EI for RF, TB and BF, was negatively correlated with leptin levels (adjusted R2 = 0.27, P < 0.01), and EI of the MF was correlated with muscle mass and performance in the timed up-and-go test (adjusted R2 = 0.61, P < 0.01). CONCLUSION: These results suggest that EI might be influenced by specific parameters depending on the location of the muscle.

Effect of prolonged hospitalization for threatened preterm labor on maternal and fetal vitamin D levels.

AIM: We aimed to evaluate the effect of prolonged hospitalization for threatened preterm labor (TPL) on maternal and fetal vitamin D status. METHODS: This was a retrospective cohort study, spanning 4 years, including 18 women with TPL and 36 women with normal pregnancy who received prenatal care for a singleton pregnancy at our center. TPL cases were women who were admitted to our hospital after the second trimester test for at least 28 days, during which time the third trimester test was also performed. Controls were randomly sampled from women matched for age as well as the season during which the third trimester test was performed. Serum 25-hydroxyvitamin D (25(OH)D) concentration in maternal blood was compared between the two groups at second trimester, third trimester and in the umbilical cord blood at delivery. RESULTS: The mean ± SD of maternal serum 25(OH)D concentration in the TPL group (14.0 ± 3.0 ng/mL) was significantly lower than that in the control group (17.8 ± 5.9 ng/mL) (P < 0.01) in the third trimester, although there was no significant difference in the second trimester (P = 0.30). There was a significant reduction (P < 0.01) in the maternal serum 25(OH)D from the second to third trimester in the TPL group, compared to the control group (P = 0.60). There was no significant difference between the two groups in umbilical cord blood 25(OH)D concentrations at delivery (P = 0.41). CONCLUSION: Prolonged hospitalization for TPL reduced the maternal vitamin D status but did not influence the neonatal status at delivery.

Prenatal assessment of coronary artery anatomy using color Doppler in cases of D-transposition of the great arteries: Case reports.

Abnormal coronary artery (CA) anatomy is common in cases of D-transposition of the great arteries (TGA) and can be a significant risk factor during the arterial switch operation. Here, we report three cases of TGA in which CA anatomy was assessed prenatally using color Doppler imaging. All CA, except the left circumflex CA in one case, were identified. CA anatomy was completely correctly diagnosed in one of our three cases. In the two remaining cases, the left circumflex CA could not be visualized in one patient, and the origin of the left anterior descending CA was not correctly diagnosed in the other. We found that prenatal assessment of CA anatomy using color Doppler in TGA was feasible, but the diagnostic accuracy was limited. We anticipate that more experience with the advancing technology will improve accuracy.

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.

Case of non-mosaic trisomy 20 in amniotic fluid cultures without anomalies in the fetus: cytogenetic discrepancy between amniocytes and fetal blood.

We report a case of non-mosaic trisomy 20 detected prenatally by amniocentesis during the 16th week of pregnancy. Fetal blood sampling showed a normal karyotype and no fetal, neonatal or infant abnormalities were observed. Amniotic fluid cell karyotyping revealed a trisomy 20 (47,XY,+20) with 100% trisomic cells (38/38); however, a subsequent cordocentesis revealed a normal male karyotype. Moreover, a follow-up ultrasonographic examination did not reveal any major congenital malformations, and a healthy male infant was delivered subsequently at an appropriate gestational age without obvious anomalies. Cytogenetic analysis of blood lymphocytes from the infant revealed a normal karyotype, but cultured cells from the term placenta showed a mosaic karyotype 47,XY,+20/46,XY with 88% trisomic cells (44 of 50). Furthermore, no anomalies or developmental delays were observed in the neonatal period, thus suggesting two possibilities: confined placental mosaicism with the presence of normal and abnormal cell lineages, or generalized mosaicism affecting a limited number of tissues in both the placenta and fetus.