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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.

The 4q deletion syndrome is a well-known rare genetic condition caused by partial, terminal, or interstitial deletion in the long arm (q) of chromosome 4. The phenotype of this syndrome shows a broad spectrum of clinical manifestations due to the great variability in the size and location of the deletion. In the literature, the mostly terminal deletions of chromosome 4q and the relative phenotypes are described, while the interstitial deletions of the long arm of chromosome 4 are rarely cited. Here, we report on a female fetus presenting no abnormal ultrasound evidence but with multiple chromosome aberrations. Comparative genomic hybridization (aCGH) revealed an interstitial 10.09 Mb deletion at the chromosome at the region of 4q28, arr[hg19] 4q28.1q28.3 (124068262_134158728)x1 combined with a 386.81 Kb microduplication at chromosome 15q11.1, arr[hg19] 15.11 (20249932_20636742)x3. At birth, and after 11 months, the baby was confirmed healthy and normal. The identification of this case allows for a deeper understanding of 4q syndrome and provides an explanation for the wide genetic/phenotypic spectrum of this pathology. This report can provide a reference for prenatal diagnosis and genetic counseling in patients who have similar cytogenetic abnormalities, and underlines the importance of reporting unusual variant chromosomes for diagnostic genetic purposes.

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.

We report on the detection of discordant inclusions in the brain of a 25-week female fetus with a very rare lysosomal storage disease, namely, Sly disease (mucopolysaccharidosis (MPS) type VII), presenting with nonimmune hydrops fetalis. Besides vacuolated neurons, we found abundant deposition of polyglucosan bodies (PGBs) in the developing brain of this fetus in whom MPS-VII was corroborated by lysosomal beta-glucuronidase-deficiency detected in fetal blood and fetal skin-fibroblasts and by the presence of a heterozygous pathogenic variant in the GUSB gene in the mother. Fetal/neonatal metabolic disorders with PGB-deposition are extremely rare (particularly in relation to CNS involvement) and include almost exclusively subtypes of glycogenosis (types IV and VII). The accumulation of PGBs (particularly in the fetal brain) has so far not been depicted in Sly disease. This is the first report on such "aberrant" association. Besides, the detection of these CNS inclusions at such an early developmental stage is remarkably unique., info:eu-repo/semantics/published

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.