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Objective To describe the prenatal and postnatal diagnostic workup leading to the diagnosis of 5-alpha-reductase type 2 deficiency (5AR2D) in a case of 46,XY disorder of sex development (DSD). Case report A first-trimester noninvasive prenatal test (NIPT) on maternal blood revealed a male fetus with a low risk of aneuploidy. However, a female fetus was identified at the second-trimester scan. A repeat sample revealed similar results and ruled out the possibility of both a sample swap or a vanishing twin. At birth, phenotypically female external genitalia were evident, with testes noted in the labioscrotal area. Neonatal blood confirmed a 46,XY complement and a 46,XY DSD genetic panel revealed a 5AR2D. Conclusion Our case and others described in the literature demonstrate that fetal sex discordance detected by a combination of NIPT and subsequent ultrasound examination can be associated with several biological conditions, with DSD being the most significant.

Meroanencephaly occurs when there is an incomplete open median calvarial defect. This condition, which is in the spectrum of anencephaly, results in ectopic brain without skin covering and a normal foramen magnum. We present a rare case of a female fetus with meroanencephaly referred to our institution at 24 weeks and imaged with both prenatal ultrasound and MRI, demonstrating an open neural tube defect in the high parietal area and lack of visualization of the supratentorial ventricular system. Postnatal the child survived and went on to require antibiotic therapy and closure of the defect without cerebral spinal fluid diversion but demonstrates severe permanent neurologic deficits.

Purpose To investigate whether advanced maternal age (AMA) increases the risk of postpartum depression (PPD) at 6 weeks after birth and to explore the risk factors. Design and methods A cross-sectional study was conducted at 6 weeks postpartum. The Edinburgh Postnatal Depression Scale and a self-designed questionnaire were administered to participants. Multivariate logistic regression was used to determine risk factors. Findings The prevalence of PPD in women of AMA was 18.0%. Poor relationships with mothers-in-law, female fetus, inconsistency between expected sex and actual sex and primiparae were identified as risk factors. Practice implications Mothers of AMA require specialized care and support to alleviate their concerns.

The cloacal malformation is an extremely rare non-hereditary fetal anomaly that presents as a variety of defects. It predominantly affects females with a prevalence of 1 in 50,000 births. Here, we present the case of a 27-year-old primigravida at 32 weeks of gestation showing a large midline abdominopelvic cystic mass with a septum, bilateral hydroureteronephrosis with oligohydramnios in a female fetus on antenatal ultrasonography. Suspicion of the cloacal anomaly was made which was confirmed postnatally. Postpartum analysis of the placenta revealed trisomy 21.

Congenital ovarian cyst is the most common cause of abdominal mass in a female fetus.[1][1] The ovarian cyst usually presents in a female fetus in the third trimester under the influence of maternal hormones.[2][2] Ovarian cysts of more than 20 mm are considered pathological.[2][2] They can be

Key Clinical Message Whole‐exome sequencing in a female fetus detected a USP9X variant. This X‐linked gene was recently associated with intellectual disability and distinct pattern of malformation in females. Isolated agenesis of the corpus callosum has not been reported in association with USP9X. Identifying this variant impacted management of the subsequent pregnancy.

Background Maternal serum human chorionic gonadotropin (hCG) is produced in trophoblast cells during pregnancy. Whether there are sex-related growth differences of hCG concentrations in early pregnancy is still controversial. Objective To explore the association between hCG concentrations and fetal sex as early as 2 weeks after in vitro fertilization and embryo transfer (IVF-ET). Methods This study involved 6669 women ≤ 38 years of age. These 6669 patients all delivered singletons; 3531 had a male fetus and 3138 had a female fetus. The maternal serum hCG concentrations on Day 14 and Day 21 were determined using a Beckman DxI800 immunoassay system. Results Among the 6669 patients who delivered singletons, 3531 had a male fetus and 3138 had a female fetus. The hCG concentrations on day 14 of gestation were 516.12 (342.12–757.34) IU/L in the group of male fetuses and 552.69 (359.35–772.83) IU/L in group of female fetuses. The hCG concentration on day 21 was 8839.60 (5975.00–12615.00) IU/L in male fetuses and 9289.10 (6162.00–13146.00) IU/L in female fetuses. Maternal serum hCG levels were significantly higher in those with female fetuses than those with male fetuses. After adjusting for confounding factors, the hCG levels were significantly associated with fetal sex. Conclusions Our results showed pregnant women with female fetuses have significantly higher hCG levels than those bearing male fetuses.

Congenital pouch colon is a rare anorectal malformation of unknown embryogenesis in which all or part of the large intestine is replaced by a pouch-like dilatation that usually communicates with the urogenital tract via a fistula. This condition is more common among males in North Indian population and is associated with various anomalies such as uterovaginal malformations. It has been classified into five types that are showing a shift over the years towards less severe types such as type 4. We report a case of type 4 congenital pouch colon with anal agenesis without fistula and lower vaginal agenesis in a 29-week-old female fetus diagnosed during autopsy. The absence of a fistula and association with vaginal agenesis in a female fetus, which gets overlooked even in live births, makes it a unique case. Early prenatal diagnosis and awareness about this condition are essential for appropriate management and favorable surgical outcome.

Fetal ovarian cysts are usually benign and managed conservatively. We report an interesting case of fetal ovarian cyst diagnosed in the antenatal period. Post-delivery, neonate was operated for torsion of the ovarian cyst. The baby recovered well.

Introduction: Animal and pathologic models have provided evidence for a fetal influence on the labor process; however, the potential impact of fetal gender on the labor curve has gone largely unstudied.Objectives: To determine the association between fetal gender and first stage labor curve at term.Methods: This was a retrospective study. There were 330 patients en­rolled in this study, who gave birth from January 2011 to December 2012 by reviewing the charts. A total of 500 charts were reviewed.Results: There were three hundred thirty (330) patients, out of which a total of 179 (54.2%) patients gave birth to males and 151 (45.8%) gave birth to females. Women who had a male fetus had a longer first stage of labor than women who carried a female fetus. The difference in the birth weight of the infants is statistically significant, male newborns were heavier at birth than female newborns.Conclusions: Term labor in the first stage was found to be slower in women who carried a male fetus compared with those with female fe­tus which is not statistically significant.Journal of Gandaki Medical College Vol. 10, No. 1, 2017, page: 1-4

Objective: To compare available analysis methods for determining fetal fraction on single read next generation sequencing data. This is important as the performance of non-invasive prenatal testing (NIPT) procedures depends on the fraction of fetal DNA. Methods: We tested six different methods for the detection of fetal fraction in NIPT samples. The same clinically obtained data were used for all methods, allowing us to assess the effect of fetal fraction on the test result, and to investigate the use of fetal fraction for quality control. Results: We show that non-NIPT methods based on body mass index (BMI) and gestational age are unreliable predictors of fetal fraction, male pregnancy specific methods based on read counts on the Y chromosome perform consistently and the fetal sex-independent new methods SeqFF and SANEFALCON are less reliable but can be used to obtain a basic indication of fetal fraction in case of a female fetus. Conclusion: We recommend the use of a combination of methods to prevent the issue of reports on samples with insufficient fetal DNA; SANEFALCON to check for presence of fetal DNA, SeqFF for estimating the fetal fraction for a female pregnancy and any Y-based method for estimating the fetal fraction for a male pregnancy.

OBJECTIVE This study was aimed to evaluate whether maternal dried blood spots could be a potential source for the noninvasive fetal RHD genotyping, serving as a combined one-step test for both the First Trimester Screen and the fetal RHD genotyping. METHOD Both the maternal dried blood spots and the peripheral blood samples from 19 RhD-negative pregnant women were obtained during the First Trimester Screen. DNA was extracted and sequential real-time PCRs were performed to determine the fetal RHD genotypes. Fetal RhD serological types were obtained after delivery. This study was approved by the Institutional Review Board, and informed consents were obtained. RESULTS A total of 19/19 fetal RHD genotyping with maternal DBS were consistent with the follow-up serological RhD test results after birth. Eleven were RhD positive, and eight were RhD negative (RHD deletion or RHD-CE-D = 6, RHD pseudogene = 1, RHDVI = 1). Sensitivity = 100%, specificity = 100%, positive predictive value = 100%, negative predictive value = 100%. A total of 18/19 fetal gender were determined correctly with maternal DBS. One female fetus was falsely determined as male. Sensitivity = 100%, specificity = 91.6%, positive predictive value = 87.5%, negative predictive value = 100%. CONCLUSION Maternal dried blood spots, with the benefits of flexible sample transportation and processing, could be utilized for the noninvasive prenatal fetal RHD genotyping and potentially be incorporated into the routine First Trimester Screen. Larger scale study is in progress to implement fetal RHD genotyping in routine prenatal care. © 2017 John Wiley & Sons, Ltd.

Programmed cell death-1 (PD-1) and its ligand (PD-L1) have emerged as key players in regulating immune tolerance. Preeclampsia is associated with maladaptation of immune tolerance during pregnancy. This study aimed to determine if maternal soluble PD-1 (sPD-1) and soluble PD-L1 (sPD-L1) levels are altered in preeclampsia.Maternal sPD-1 and sPD-L1 levels were measured by ELISA in 172 pregnant women (86 normotensive and 86 preeclampsia). The differences in sPD-1 and sPD-L1 levels between normotensive and preeclamptic pregnant women,34 vs34 weeks, and fetal gender differences were assessed. Data were analyzed by unpaired t test or chi-square. A probability level of.05 was considered statistically significant.Maternal sPD-1 levels were significantly higher in preeclamptic than in normotensive pregnant women, 6262 ± 1860 vs 1134 ± 349 pg/mL, P .01. sPD-1 levels were not statistically different between34 and34 weeks of gestation in both normotensive and preeclamptic groups. sPD-1 levels were relatively higher in mothers with female fetus than with male fetus in the preeclamptic group: 8104 ± 3054 vs 3802 ± 2177 pg/mL, but relatively lower in mothers with female fetus than with male fetus in the normotensive group: 425 ± 134 vs 625 ± 182 pg/mL. Maternal sPD-L1 levels were relatively higher in preeclamptic than in normotensive pregnant women: 143 ± 52 vs 69 ± 13 pg/mL.Aberrant sPD-1/sPD-L1 signaling is present in preeclampsia. Whether increased maternal sPD-1 and sPD-L1 levels were associated with fetal gender difference or immune tolerance dissimilarity during pregnancy in women with preeclampsia warrants further investigation.

Introduction: Dexamethasone (dex) crosses placenta, suppresses fetal ACTH and reduces level of adrenal androgens in fetus with Congenital Adrenal Hyperplasia (CAH). This reduces virilization of female genitalia and its associated risk of emotional distress and need for reconstructive surgery (1). As organogenesis begins at 6 weeks, pre-natal treatment with dex must be started at 6-7 weeks. However, dex is a category C drug and its use is associated with birth defects, reduced birth weight and decreased cognitive function. Clinical Case:A 30-year-old African American (AA) female at 25 weeks gestation was referred to the Endocrine clinic after being lost to follow up for two years for management of 21-hydroxylase deficient CAH-virilizing type in pregnancy. She recalls being diagnosed with CAH around 2 years of age, was followed by Pediatric Endocrinology and has been maintained on oral steroids. Her birth and family history are unknown as she is adopted. She had clitoromegaly and underwent clitoral reduction surgery at 8yrs of age. She has had extensive hirsutism but denied having menstrual irregularities or problems conceiving besides one miscarriage at 10 weeks gestation, 1 year prior to current pregnancy. She had an uncomplicated pregnancy 3 years ago and delivered a boy whose genetic testing was negative for CAH. She was on prednisone then. She had history of non-compliance and was switched to dex 0.75 mg nightly 2 years ago. She did not follow with up Endocrine for the last 2 years as she was asymptomatic and had her dex refilled by primary care physician and had been taking it regularly. Her current pregnancy had been going well. She now has a female fetus with a different AA partner who does not have personal or family history of CAH. Genetic testing of father to see if he is a carrier could not be done, and patient refused chorionic villous sampling to determine fetus’ risk of CAH. Given unknown risk of female fetus having CAH and potential complications of dex, we recommended switching to hydrocortisone (HC) 10mg BID. Clinical Lesson: Endocrine society recommends against treatment of CAH in pregnant women with dexamethasone except in cases of prenatal treatment of CAH of female fetuses which is performed at few selected centers (2). In the case above, patient conceived on dex and continued dex for first 25 weeks of her pregnancy until seen by Endocrinologist. By that time, acute decision-making period was over. Female fetus whose risk of CAH is unknown was exposed to dexamethasone and has possible risk of developing complications. This case emphasizes importance of correct steroid treatment early in pregnancy, multidisciplinary approach in management of such patients and importance of endocrine follow up for all CAH patients especially those of reproductive age. (1) Clin Endocrinol (Oxf). 2010 Oct;73(4):436-44 (2) J Clin Endocrinol Metab. 2018 Nov 1;103(11):4043-4088

Objective To study the effect of fetal sex on maternal serum total testosterone level and its application for fetal sex determination. Background Our study has been made to find a prenatal sex determination test that is rapid, accurate, and can be performed in early pregnancy. Patients and methods This study was done on 66 pregnant healthy women (aged 18–35 years) in their second trimester of pregnancy (13–26 gestational weeks) as a case group and another 20 healthy nonpregnant women, age-matched as a control group. Those cases with a history of drug intake, chronic diseases, and history of previous operations were excluded. Both groups were subjected to measurement of total testosterone levels. The pregnant women were rechecked after delivery to know the delivered baby's sex. After excluding five cases from the pregnant group, including three cases (abortion) and two cases (still birth) the final number of the case group was 61; after that the pregnant group was classified into two subgroups: pregnant with male (30) and pregnant with female (31). Results The maternal serum total testosterone level is significantly higher in the pregnant group compared with the nonpregnant control group. Regarding maternal testosterone in women carrying female fetus and others carrying male fetus, there was no statistically significant difference regarding the maternal total testosterone level between those who are pregnant in women compared with those who are carrying male fetus. Conclusion Maternal serum total testosterone level is not a good predictor of fetal sex.

Once a young lady, walked in the OPD with history of bleeding per vagina for last 24 hours. It was a case of retained products of conception subsequent to induced incomplete abortion. Later we came to know that a team of local private doctors with portable ultrasound machine and MTP kits used to come in the study areas at night hours. This mobile team offered a package deal to the clients. Part one was sex determination test. When a female fetus was detected they offered to do induce abortions (on the spot). This is done in a clandestine way. The team used to leave after initiating the procedure. For any complication they were advised to go to hospital OPD presenting as P/V bleeding to avoid punishment under Pre-Conception and Pre-Natal Diagnostic Techniques (PCPNDT) Act, 1994. As we know every action has an opposite reaction. To prevent female feticides government enacted PNDT Act as an action. Reaction to this people started prenatal sex selection. Again the governmental action was amendment of Pre-Natal Diagnostic Techniques (Regulation and Prevention of misuse) (PNDT) Act, 1994 to PC-PNDT ACT. People's reaction was sex selection in a static van. Due to raids it was converted to mobile van. In our case study it is seen that, to avoid the PC-PNDT Act, people devised a newer strategy. A strategy for sex determination and female feticide by a mobile team with portable ultrasound machines. Our case study is important because we have just explored the tip of the iceberg only. A lot of efforts should be done. Until and unless the people understand the value of women in the society, this kind of reaction will take place again and again.

Bladder agenesis is a rare condition, mostly affecting females, where diagnosis is usually made in infancy when investigating urinary incontinence. Neonatal cases are uncommon, and none have been reported antenatally. The few male patients with this condition rarely survive: among associated anomalies, different degrees of penoscrotal transposition are the most evident feature. The association of genital transposition in a female infant with prenatal description of bladder agenesis has not been previously reported. Early diagnosis is important, enabling planning of surgical reconstruction early in life and appropriate parental counseling.

Bronchogenic cyst (BC) is a very rare congenital anomaly occurring due to budding of the primitive foregut, and its common location is the posterior mediastinum. BC when diagnosed prenatally can be treated if it is encroaching on the development of lungs. BC has been reported in other locations such as cervical, thoracic, abdominal sites and also as subcutaneous lesions. Omphalocele is a congenital malformation occurring due to a central defect in the abdominal wall with herniation of the viscera. The nonentity documented here was found in a female fetus with 20 weeks of gestational age. The mother was a primigravida who had antenatal ultrasound scan rendering diagnosis of a live fetus having abdominal wall defect with omphalocele. This case is exceptionally rare as the content of omphalocele was BC having a classical wall lined by pseudostratified ciliated columnar epithelium overlying band-like cartilage. The extensive search in the literature did not reveal another similar case.

Knotting of the umbilical cord is a significant cause of perinatal morbidity and mortality. It could be loose or tight. Tightening of the knot rarely occurs and when present can cause fetal demise. Antenatal features of the knotting of the umbilical cord are not only difficult to elicit but also usually do not conclusively establish the diagnosis. We report a case of true knotting of the umbilical cord in a 32-year-old female, who suddenly experienced decreased fetal movement and within 60 min had a fetal demise at 39 weeks of gestation. Intraoperative findings showed a stillborn female fetus, with no sign of maceration or congenital abnormality. The umbilical cord was relatively long and tightly knotted. To the best of our knowledge, this was the first case report of the true knotting of the umbilical cord in Liberia. Obstetricians and general practitioners should take caution that it remains an unseen cause of sudden intra-uterine fetal death during the antenatal period.

To determine if cardiac axis obtained at an early ultrasound study (11-15 weeks) differs from that obtained at a late ultrasound study (18-22 weeks) in the same fetus and to evaluate the impact of fetal gender and/or maternal body mass index (BMI).Cardiac axes of 324 non-anomalous fetuses at 11-15 weeks gestation were measured, with follow-up measurements obtained at 18-22 weeks. Comparisons were performed based on gestational age period, fetal gender and obese/non-obese maternal status.(1) Mean fetal cardiac axis did not change between 11 and 15 weeks; p = 0.8, (2) mean fetal cardiac axis was more levorotated at 11-15 weeks than measurements obtained at 18-22 weeks; 48.1 ± 7.1° versus 43.7 ± 8.9°; p 0.0001, (3) male fetuses had less levorotated cardiac axis than female fetuses in late ultrasound studies but there was no difference between them at early ultrasound studies; 18-22 weeks male fetus, 42.7 ± 9.3° versus female fetus, 45.2 ± 8.3°; p = 0.02 and 11-15 weeks male fetus, 48.1 ± 7.0° versus female fetus, 48.4 ± 7.4°, p = 0.7, respectively, and (4) similar trends with the overall study population were observed in the comparison between fetuses of obese and non-obese women.Fetal cardiac axis remains stable at 11-15 weeks, becoming less levorotated at 18-22 weeks. This may be attributed to increments in fetal lung volume. The differences in cardiac axis measurements between male and female fetuses examined at 18-22 weeks may also be attributable to differences in increment of fetal lung volume during this gestational age period.

BACKGROUND The operation of cord blood banks (CBBs) requires immense labor, material, and financial resources. Thus, increasing the ratio of high-quality cord blood units (HQCBUs) in storage that are qualified for clinical use is critical for the efficient use of limited resources. Understanding the factors that contribute to HQCBUs, including maternal, fetal, and processing conditions, may improve the number of HQCBUs in storage. STUDY DESIGN AND METHODS The maternal, fetal, and processing conditions of 4613 CBUs at the Guangzhou Cord Blood Bank were analyzed retrospectively to determine their effect on HQCBUs. All CBUs were obtained following strict standard operation procedures. RESULTS Several factors may contribute to HQCBUs: fetal age older than 37 gestational weeks, female fetus, large cord blood (CB) volume (>80 mL), high birthweight (>3500 g), vaginal delivery, and a shorter amount of time between CB collection and processing (12 hr). We report for the first time that α-thalassemia carriers exhibit a postprocessing total nucleated cell count (p-TNCC) increase to at least 1.25 × 109 and an increase of the CD34+ cell count to at least 6.01 × 106. Meconium-stained amniotic fluid and mothers younger than 25 years of age exhibited increased p-TNCC to at least 1.25 × 109, and colony-forming units increased to at least 23.24 × 105. CONCLUSIONS We identified several factors that affect HQCBUs. These results may be used as a reference for updating CB collection strategies, with priority given to collecting CBUs from female fetuses older than 37 gestational weeks, at high birthweight, and born by vaginal delivery from mothers younger than 25 years of age, especially newborns with one parent carrying the trait or with meconium-stained amniotic fluid. The collected CBUs should be sent to the laboratory as soon as possible for priority processing, which will help to increase the number and ratio of HQCBUs and the effective use of CBB resources.

Cerebral malformations are of fundamental importance in the clinical diagnosis of Aicardi Syndrome (AS). Some of these anomalies like callosal agenesis, cysts formation, posterior fossa anomalies and gross interhemispheric asymmetry are easily observed in the prenatal period with the use of foetal Magnetic Resonance Images (MRI). We present two cases of female newborns with cerebral MRI performed in the prenatal period and further diagnosed with AS. With the increase use of foetal MRI, AS will be easier suspected in the prenatal period in a female fetus with typical brain anomalies.

Key Clinical Message Simpson–Golabi–Behmel syndrome (SGBS) is a rare X‐linked syndrome. Female carriers may have mild manifestations. Macrosomia, polyhydramnios, and kidney and urinary tract anomalies are common findings in male fetuses. We present the first case of a severely affected female fetus with stigmata of SGBS and a deletion involving the GPC3 gene.

To explore the hypothesis that female fetus is associated with greater maternal insulin resistance during pregnancy.In a singleton pregnancy cohort study (n = 299), we compared maternal insulin resistance according to fetal sex, based on plasma biomarkers from a 50-g 1-h oral glucose tolerance test at 24-28 weeks gestation. The primary outcome was plasma glucose-to-insulin ratio. Other outcomes included plasma proinsulin-to-insulin ratio, and insulin, proinsulin, leptin, adiponectin and insulin-like growth factor I and II concentrations.After adjusting for maternal race, age, parity, education, pre-pregnancy BMI, smoking and alcohol use, history of gestational diabetes, and gestational age at blood sampling, plasma insulin concentrations were significantly higher (mean ± sd: 66.4 ± 50.5 vs. 51.0 ± 46.1 mU/l; adjusted P = 0.001), and glucose-to-insulin ratios significantly lower (2.60 ± 2.03 vs. 3.77 ± 4.98 mg/dl/mU/l; adjusted P = 0.002) in women bearing a female vs those bearing a male fetus, despite similar glucose levels (116.4 ± 27.2 vs. 117.0 ± 31.9 mg/dl; adjusted P = 0.92).There were no significant differences in proinsulin-to-insulin ratios, or leptin, adiponectin, insulin-like growth factor I and insulin-like growth factor II concentrations by fetal sex.Female fetus may be associated with greater maternal insulin resistance during pregnancy.

Ectodermal dysplasia are group of inherited disorders involving the developmental defects of ectodermal structures like hair, teeth, nails, sweat glands, and others. X-linked recessive inheritance is most common. Here we describe perinatal autopsy findings in a case of de novo ectodermal dysplasia in a female fetus. To the best of our knowledge, this is the first fetal autopsy description in a case of ectodermal dysplasia.

Is it justified to detect minor genetic aberrations before birth and terminate pregnancies based upon such information? We present the case of a woman who wanted Prenatal Diagnosis (PND) to detect whether her female fetus was a Haemophilia mutation carrier. Such carriers are usually healthy.She wished to eradicate the Haemophilia mutation from her family to avoid future generations being affected and to protect her children from having to go through PND themselves. We explore existing practice guidelines, public attitudes and possible objections to providing PND for minor abnormalities. We argue that in a society where couples have considerable autonomy relating to decisions about the fetus at least until viability, the routine restriction of PND for minor genetic abnormalities would be an unjust infringement of individual liberty.

We compared maternal plasma testosterone and insulin-like peptide 3 (INSL3) concentrations between dams carrying a male versus female fetus from early to late gestation and examined the application of maternal hormonal concentrations to fetal gender prediction in dairy and beef cattle. Blood samples were collected from Holstein cows or heifers (N = 31) and Japanese Black beef cows (N = 33) at 1-month intervals at 2 to 8 months of gestation. Fetal gender was confirmed by visual observation of external genitalia of calves just after birth. Plasma testosterone and INSL3 concentrations were determined by enzyme-immunoassay. Fetal genders were judged based on cutoff values of maternal testosterone and INSL3 concentrations (male, if it was ≥ cutoff value; female, if cutoff value), which we set for each hormone at each gestational month using receiver operating characteristic curves. Plasma testosterone concentrations were higher for dams with a male fetus than those with a female at 4, 5, 7, and 8 months for the dairy cattle (P 0.05) and at 4, 5, 6, and 8 months for the beef cows (P 0.05). Plasma INSL3 concentrations were higher for dams with a male fetus than those with a female at 2 and 6 months for the dairy cattle (P 0.05) and at 4 to 8 months for the beef cows (P 0.05). The predictive values and detection rates for fetal gender prediction based on maternal testosterone concentrations were 75.8% to 79.3% for dairy cattle at 5 and 7 months and for beef cows at 5 and 6 months, whereas those values by maternal INSL3 concentrations were 71.0% to 72.4% for the dairy cattle at 6 months and beef cows at 4 and 8 months. When multiple time points of testosterone and INSL3 concentrations at several midgestation and late gestation months were considered for fetal gender prediction, predictive values were 89.3% (5-7 months) and 85.7% to 88.0% (4-6, 8 months) for the dairy and beef breeds, respectively. Maternal testosterone and INSL3 concentrations in dams carrying a male fetus were higher than those carrying a female at midgestation and/or late gestation in Holstein and Japanese Black beef cattle. Nearly, 80% accuracy was obtained for fetal gender prediction by a single time point of maternal plasma testosterone concentrations at midgestation. Nearly 90% accuracy for the prediction was obtained when multiple time points of testosterone and INSL3 concentrations from midgestation to late gestation were considered.

Triploidy occurs in about 1 to 3% of clinically recognizable pregnancies and is typically associated with growth restriction, craniofacial dysmorphisms and congenital anomalies. We report the case of a female fetus with prenatal diagnosis of complete triploidy, polysplenia, bilateral cleft-palate, horseshoe-kidneys and bilateral club-feet. Whereas bilateral cleft-palate, horseshoe-kidneys and bilateral club feet are known to be part of the triploidy-associated malformation spectrum, polysplenia, which usually occurs as part of the heterotaxia spectrum, has never been associated with triploidy. An amplification of the triploidy phenotype or a "double trouble".

In the literature of the Roman Era, a case of macrosomia and genital ambiguity in a newborn is described. Textual evidence concerning this case of androgynism and its symbolism is provided in the present study. Medical interpretation of such cases covers the entire spectrum of differential diagnosis of macrosomia concurrent with genital ambiguity. Female pseudohermaphroditism may be excluded from the differential diagnosis, as the adrenal cortex physiology of the female fetus renders the concurrence of overgrowth and androgen excess unlikely. It will therefore have been a case of 46XY disorder of sexual differentiation due to either fetal overgrowth syndromes (Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes) or to mutations of the WT1 gene. Mutations of the WT1 gene are considered as the most probable diagnosis, resulting in genital ambiguity and macrosomia due to additional altered insulin-like growth factor I (IGF-I) and IGF-II action.

Female feticide is an extreme form of violence against women, the most active part is being played by the women themselves just for the mere want of a boy, mothers don't feel bad in strangulating their own daughters in their wombs. From decades of sex determination and female feticide is creating a statistical imbalance regarding the commonly expected ‘male: female’ birth ratio in India. This offense have been spreaded to the states in India like Punjab, Haryana, Delhi, Gujarat and Rajasthan, with the news of increasing number of female fetus being aborted from Orissa & Bangalore. The 2011 census has revealed a drastic fall in child sex ratio throughout the country. The decline in child sex ratio in India is guarded by the census figure, in 1991 the figure was 947 girls to 1000 boys, ten years later in 2001 it was about for 927 girl child to 1000 boys. In 2011 it further declined to 914 girl children to 1000 boys.

Pregnancy isn't the most comfortable time of a woman's life. I'm halfway through mine, and have already experienced plenty of headaches, pains and cramps. So it is worrying that research keeps finding that mild painkillers could pose risks to fetuses. The latest study suggests that ibuprofen seems to pass through the placenta with ease, and wreaks irreversible damage on a female fetus's developing ovaries. A girl is thought to be born with all the eggs she will ever have, so any impact on her egg reserve will last a lifetime, potentially affecting fertility. It is already well known that ibuprofen can interfere with a fetus's blood supply during the late stages of pregnancy, and has been linked to miscarriage in early pregnancy.

Summary Loken MO, Jeansson S, Jenum PA, Eskild A. Serum level of immunoglobulin E during pregnancy – does offspring sex matter? Paediatric and Perinatal Epidemiology 2010; 24: 75–78. We assessed maternal serum levels of total immunoglobulin E (IgE) in the first, second and third trimester and changes in total IgE levels from first to third trimester in relation to offspring sex. Within a cohort of 29 948 pregnant women, 392 women without a history of pre-eclampsia and with a liveborn child were randomly selected. Information on offspring sex was obtained through linkage to the Medical Birth Registry of Norway. Blood samples from each trimester were analysed for total IgE concentration. Differences in mean levels according to offspring sex were estimated and changes in total IgE levels from first to third trimester were assessed. In all three trimesters there was a tendency of women carrying a male fetus to have a higher mean total IgE level, but significant statistical differences were not reached. The total IgE concentration decreased during pregnancy, but the decrement was less in women carrying a male fetus compared with those who carried a female fetus.

Background: In both male and female fetuses inguinal canal development entails a complex sequence of anatomic events involving the gubernaculum and processus vaginalis. Much has been written about the embryological development of the genital system, particularly the male genital system and the descent of the testes from the abdominal cavity into the scrotum. In this process, the gubernaculum plays a relevant although still unclear role. Despite all the studies that have been performed, controversy still exists in this anatomical region.Methods: Twenty round ligaments of uterus were dissected from female fetuses and microscopic structure was studied under light microscope using haematoxylin and eosin stain. The specimens were collected from female fetuses (8wks-26wks). One male fetus was also dissected.Results: Gubernaculum plays a crucial role in the development of the inguinal region. The gubernaculum is directly associated with the migration of the testis through the inguinal canal and probably to the scrotum; but the inguinal canal is present before testicular descent and females have both an inguinal canal and gubernaculum, although the ovaries do not migrate through the abdominal wall.Conclusions: In this anatomical region, and despite all the studies that have been performed, controversy still exists. This article attempts to study the morphology and histology and the differentiation of the gubernaculum with age.

Teratomas are embyonic tumors associated with erroneous prognosis at any life stage. We report on a case from the Department of Pathology, San Ignacio University Hospital, Bogota: a female fetus with tumoral mass in the right submandibular region within the right cerebral temporal lobule linked through the ipsilateral sphenoid. An immature teratoma of the central nervous system was histologically diagnosed. The major diagnostic difficulty encountered was determining degree of immaturity, due to the fact that fetal tissue is by definition immature.

A 31-year-old 2 G 1 P was referred to our unit of prenatal medicine at 35+3 weeks of gestation with a spontaneously conceived singleton pregnancy of a female fetus without detectable anomalies. Maternal hematological evaluation revealed an Evans-syndrome-related thrombocytopenia based on a lupus erythematosus. The former delivery was aggravated by a severe hemorrhage several years before. Anti-autoimmunologic therapy was started and maternal platelets count increased to physiological values. Uneventful ceasarean section was performed at 37 weeks of gestation with favourable outcome for mother and child. This case is the first report of a successful therapy in maternal Evans syndrome in pregnancy combined with a lupus erythematosus.

O presente estudo teve a finalidade de identificar o sexo e de determinar o dia da migração do tubérculo genital (TG) de fetos ovinos através da ultra-sonografia em tempo real. O sexo foi identificado no Experimento I (EI) levando-se em consideração a localização do TG e no Experimento II (EII), a presença do pênis, prepúcio e bolsa escrotal no feto macho e das tetas, vulva e clitóris no feto fêmea. No EI, as fêmeas (n=17) foram monitoradas em intervalos de 12 horas, do 35o ao 46o dia de gestação, por via transretal com transdutor linear (6,0 e 8,0 MHz). No EII, as fêmeas (n=30) com gestação de 55 a 75 dias foram examinadas apenas uma vez, utilizando-se o mesmo transdutor e via de exame do EI. Das 17 fêmeas do EI, 11 (64,6%) tiveram seus fetos corretamente sexados, independente da gestação ter sido simples (7/11), dupla (3/11) ou tríplice (1/11). Nas 6 (35,4%) gestações restantes, 3 (17,7%) foram duplas, sendo impossível sexar um feto de cada gestação. Nas outras 3 (17,7%) gestações, os fetos foram corretamente sexados, apesar dos nascimentos não coincidirem com a quantificação. Num feto macho de uma gestação simples, a migração ocorreu no 37° dia e até o 46°, todos os fetos das outras gestações estavam corretamente sexados. Das 30 fêmeas do EII, 16 (53,4%) apresentaram gestações simples e a acurácia da sexagem foi de 100%. Nas 14 (46,6%) restantes, as gestações foram duplas, sendo impossível, em quatro casos, determinar o sexo de, pelo menos, um dos gêmeos. De todos os fetos nascidos, a acurácia geral da sexagem foi de 88,0% (EI) e 90,9% (EII), não sendo observada diferença (P>0,05) entre ambos os experimentos. Os resultados permitem concluir que a ultra-sonografia em tempo real é um método eficiente para diagnosticar o sexo fetal pela visualização do TG, assim como pela identificação do pênis, prepúcio e bolsa escrotal no feto macho e das tetas, vulva e clitóris no feto fêmea, desde que os exames sejam realizados a partir do 50o dia de gestação. The present study aimed to identify the sex and to determine the day of genital tubercle (GT) migration of ovine fetuses using real time ultrasonography. The sex was identified in Experiment (EI) taking into consideration the localization of GT and in Experiment II (EII) the presence of penis, prepuce and scrotal bag in male fetus and nipples, genital swelling and clitoris in female fetus. In EI, the females (n=17) were monitored with 12 hour intervals from the 35th to the 46th day of pregnancy, by transrectal via with linear transducer (6.0 and 8.0MHz). In EII, the females (n=30) with pregnancy period from 55 to 75 days were examined once only, using the same transducer and via used in EI. Among 17 females in EI, 11 (64.6%) fetuses were correctly sexed independent of single (7/11), twin (3/11) or triple (1/11) pregnancy In 6 (35.4%) pregnancies, 3 (17.7%) were twins, being impossible to sex one fetus of each pregnancy. In other 3 (17.7%) pregnancies the fetuses were correctly sexed, although the birth did not coincide with the quantification. In a male fetus of a single pregnancy, the migration of the GT began on day 37 of pregnancy and on the 46th day all the fetuses of the other pregnancies were correctly sexed. Among 30 females in EII, 16 (53.4%) pregnancies were single being sexed with accuracy of 100%. In other 14 (46.6%) remainder the pregnancies were twins, being impossible, in four cases, to be determined the sex of one of each twin. The incorrect diagnoses were fetuses sexed as females, however born as males. From the all born fetuses the total accuracy was 88.0% (EI) and 90.9% (EII), being not observed difference (P>0.05) between both experiments. The results allow to conclude that ultrasonography in real time is an efficient method to diagnose the fetal sex by visualization of GT, as well as by identification of penis, prepuce and scrotal bag in male fetus and nipples, genital swelling and clitoris in female fetus, since the scanning are performed from Day 50 of pregnancy

Fetus papyracie in a triplet pregnancy is indeed rare and can pose serious management challenges. These challenges are more pronounced where facilities for monitoring are either inadequate or nonexistent. A 39‑year‑old, grand multipara multipara was referred to the University of Maiduguri Teaching Hospital at 27 weeks gestation with preterm contractions. Materno fetal monitoring did not reveal the cause of the preterm contractions. She was delivered via caesarean section, at 36 weeks of gestation, on account of decreased fetal movement and the products were a live female fetus weighing 2.3 kg and two male papyraceous fetuses weighing 150 g and 130 g, respectively.Keywords: Caesarean section, Fetus papyraceous, Preterm contractions, Triplet pregnancy

A large cystic abdominal mass was identified on a prenatal ultrasound in a 37 gestational week female fetus. Antenatal fluid aspiration from the cyst was consistent with fetal urine. The cyst fluid rapidly reaccumulated, prompting induction of labor. Following vaginal delivery, radiographic evaluation revealed giant hydronephrosis with ureteropelvic junction (UPJ) obstruction. This anomaly was associated with a unusual variation of intrarenal anatomy, which prevented classic dismembered pyeloplasty. We report a case of in-utero detected giant UPJ obstruction and the unique reconstruction utilizing the concept of dismembered ureteroinfundibuloplasty. DOMAIN: urology

Uterovaginal prolapse complicating pregnancy is an extremely rare event. Obstetricians should be familiar with the condition as early recognition and close follow up is essential in order to avoid possible fetomaternal risks. We report a case of 35-year-old lady who presented to the emergency with complaints of labor pains, absent fetal movements and huge uterine cervical prolapse in active phase of labor. She was conservatively treated with bedrest, blood transfusions and irrigation of prolapsed cervix. A dead female fetus was delivered vaginally. Ring pessary was placed postnatally. We believe that an extensive uterovaginal prolapse needs close surveillance and can be managed conservatively.

Introduction: Anencephaly is a serious neural tube defect in which parts of the brain and skull are not developed. But apart from this it is also associated with other malformations which are not related to neural tube in development. Aim: The present study was undertaken to find the associated congenital malformations in western region of India and establish a aetiological correlation. Materials and Methods: The study was conducted using 20 anencephalic fetuses. Results: Nearly 80% of fetuses had associated malformations. Spina bifida was seen in 9 fetuses and cleft palate in 8. Female fetus with cleft palate had other severe associated gastrointestinal and skeletal malformation. Conclusion: In cases of anencephaly other associated malfor–mations like spina bifida and cleft palate are commonly seen.

Langer-Giedion Syndrome (LGS), with characteristic phenotypic features including craniofacial dysmorphic signs, postnatal growth retardation and skeletal abnormalities, mental impairment, urogenital malformations and heart defects, is caused by partial deletions of the long arm of chromosome 8. We present a case of a female fetus with LGS. The diagnosis was molecularly proven with the BACs on Beads™ method at 32 weeks of gestation. To the best of our knowledge, prenatal recognition of that genetic defect had previously been made in only one case. Also, it has never been described before.

Kyphomelic dysplasia is a rare form of generalized skeletal dysplasia with about 15 cases described so far in the literature. We present the clinical, radiological, and pathological findings of an antenatally detected female fetus affected with this disorder. The differential diagnoses of prenatal and perinatal semilethal skeletal dysplasias and salient features of documented cases of kyphomelic dysplasia are presented.

Amr MF, Fisher RA, Foskett MA, Pardinas FJ. Triplet pregnancy with hydatidiform mole. Multiple pregnancies with hydatidiform mole are rare. We describe here a patient who delivered a male fetus and a female fetus together with molar tissue following treatment for infertility. comparing microsatellite polymorphisms in the DNA from the patient, her partner, the two normal placentas and the molar tissue, we were able to show that this was a triplet pregnancy with two normal conceptions and a complete hydatidiform mole of monospermic origin.

To date 16 cases of Sedaghatian type of spondylometaphyseal dysplasia have been reported mainly in the neonatal period. We report on a female fetus with increased nuchal thickness at 12 weeks and Sedaghatian type of spondylometaphyseal dysplasia with absence of the corpus callosum and pachygyria at 18 weeks of gestation. A follow-up ultrasound at 18 weeks was performed due to the increased nuchal thickness with normal karyotype; rhizomelic shortening of the long bones, a small fetal thorax and cerebral ventriculomegaly were present. Pathological examination revealed Sedaghatian type of spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum. To our knowledge, this is the earliest diagnosis of Sedaghatian type of spondylometaphyseal dysplasia with absence of the corpus callosum and the first reported case with increased nuchal thickness.

To determine whether the incidence, severity and effects of hyperemesis gravidarum (HEG) are related to fetal gender.A retrospective study of all pregnant women who were admitted with the diagnosis of HEG between 1994 and 2008 (N = 545). The association between fetal gender and pregnancy outcome in pregnancies complicated by HEG was compared to that of a control group of women with singleton pregnancies matched by maternal age and parity in a 3:1 ratio (N = 1635).Women with HEG with a female fetus were younger (28.2 ± 4.8y versus 29.5 ± 5.5y, p = 0.003), were admitted earlier in pregnancy for HEG (admission 10w: 62.3% versus 53.4%, p = 0.04), and were more likely to require TPN support (35.6% versus 26.9%, p = 0.03) compared to women with HEG having a male fetus. Compared to controls, women with HEG were more likely to have a female rather than a male fetus (odds ratio (OR) = 1.20) although this difference reached statistical significance only for the subgroup of women with HEG who were admitted prior to 10 weeks of gestation (OR = 1.40, 95%-confidence interval (CI) 1.03-1.70) or who required TPN support (OR = 1.593, 95% CI 1.15-2.0263). The presence of a male fetus in pregnancies complicated by HEG was associated with an increased risk for preterm delivery (OR = 0.49, 95% CI 0.27-0.87), and composite neonatal morbidity (OR = 0.38, 95% CI 0.20-0.74).Although HEG appears to be more common and more severe in the presence of a female fetus, male fetuses appear to be more susceptible to the adverse effects of HEG on pregnancy outcome.

We applied a noninvasive prenatal test for the determination of fetal gender in multiple pregnancies by using free fetal DNA circulating in maternal blood in order to evaluate whether the quantification of male DNA could distinguish the fetal gender and the number of male and female fetuses in multiple pregnancies. We enrolled consecutively 44 women with twin pregnancies between 11–14 weeks of gestation. Peripheral maternal blood was collected, and genomic DNA was extracted from maternal plasma and analyzed for the multicopy DYS 14 sequence by using real-time PCR to quantify male DNA. Results showed that male DNA concentration was significantly higher in twin pregnancies with at least one male fetus, compared to twin pregnancies with only female fetuses. Comparing male DNA concentration in pregnancies with two male fetuses versus pregnancies with one female fetus and one male fetus, we did not obtain a significant difference between the two groups due to a slight overlapping of the range values. Therefore, our test correctly predicted fetal gender, distinguishing twin pregnancies with at least one male fetus from twin pregnancies with only female fetuses, with a diagnostic accuracy of 100%. For distinguishing pregnancies with two male fetuses from pregnancies with both female and male fetuses, a diagnostic accuracy of 76.1% was achieved.

This retrospective study of 9,980 women who delivered at the James Paget Hospital, Norfolk, UK, over 5 years, aimed to primarily determine whether the incidence of hyperemesis gravidarum (HG) is higher in the presence of a female fetus. The results showed that more women with HG had a female fetus compared with women without HG. Also found was that heavy ketonuria was more prevalent in women with a female fetus compared with women with a male fetus, and the mean number of admissions per woman was also higher in women with a female fetus compared with women with a male fetus. It can be concluded that women presenting with HG are more likely to have a female fetus and that women with HG and a female fetus tend to a higher level of ketonuria and an increased number of hospital admissions.