Incidence Of Malformations Research Articles

Neonatal Outcomes of Embryos Cultured in a Time-Lapse Incubation System: an Analysis of More Than 15,000 Fresh Transfer Cycles.

In the past 5years, the time-lapse culture system (TLS) has gradually been applied to the field of assisted reproduction. However, there are few reports on the comparison between this system and the conventional culture system (CS) on the outcome of newborns. As a new model in embryo culture, we should pay attention to its neonatal outcomes. We examined 15,252 fresh transfer cycles processed between January 2016 and December 2019. After propensity score matching, embryos in two groups, TLS and CS, had similar rates of miscarriages, ectopic pregnancy, and live delivery (P > 0.05). Embryos in the TLS group achieved higher clinical pregnancy and implantation rates (P < 0.05). Of the perinatal and neonatal outcomes, singletons and twins were analyzed separately. No significant differences were observed in gestational age, preterm deliveries, birth weight, and sex ratio (P > 0.05). Incidences of malformations of babies delivered from CS and TLS groups were also similar between the two groups. Embryos cultured in a TLS are as safe as CS with regard to neonatal outcomes, including congenital malformations.

The incidence of congenital lumbosacral malformations in young male Turkish military school candidates population

BackgroundDuring routine radiological examinations of the lumbar spine, congenital anomalies such as lumbosacral transition vertebra and scoliosis are frequently encountered in asymptomatic patients. They are not always associated with pathologies but have the potential to cause back pain in later times. The aim of this study is to analyze the prevalence of lumbar vertebral abnormalities in a group of young military school candidates who had no prior complaints. MethodsWe retrospectively evaluated the direct radiographs of asymptomatic young men aged between 17 and 22 applying between July 2018 and August 2018, for the routine check-up before becoming military school students. Exclusion criteria were prior history of low back pain for any reason, sciatica, neurogenic claudication, history of prior spinal surgery and history of a concomitant rheumatologic disease. All radiographs were evaluated for total lumbar vertebra number, morphology, presence of lumbosacral transitional vertebrae (LSTV), spina bifida occulta (SBO) and presence of lumbar and/or lumbar-elongated scoliosis. ResultsAll 3132 patients were male and mean age was 18.37. Out of them, 887 (28.3%) had a congenital lumbo-sacral anomaly that they were not aware of. The most common anomaly we detected was SBO, in 16.2% of the cases followed by LSTV with 12.9% of the cases. Some of the applicants had more than one anomaly in their X-rays. ConclusionCorrect identification of a lumbar abnormalities is of great importance, especially before surgical procedures. It is a known fact that most wrong-level spine surgery occurs in patients with variant spine anatomy, including LSTV. Meticulous screening and analyses should be performed to all patients scheduled for spinal surgery in order to avoid peri-operative complications and unwanted final results.

Hand and Upper Limb Malformations in Italy: A Multicentric Study.

Background: Although hand and upper limb malformations are quite frequent, up to now very few reports have been published on epidemiology. The aim of this study is to evaluate the number of infants who presented with hand and upper limb malformations from 2010 to 2015 in Italy. Methods: A retrospective analysis of a pediatric population presenting with hand and upper extremity malformations was carried out, gathering reports achieved from eight Italian Centers of pediatric hand surgery. Other factors such as gender, date and region of birth, family distribution of malformations and associated syndromes, were analysed. Results: Out of 3,100,421 live births, 765 children presented with hand and upper limb malformations. The incidence was 2,5/10,000 live births with a predominance of males and the right side. Radial polydactyly was the anomaly with the highest percentage, closely followed by simple syndactyly, simbrachidactyly and complex syndactyly. Less common conditions were the triphalangic thumb, thumb in palm, proximal radioulnar synostosis and Sprengel deformity. Inheritance of and familial predisposition to those malformations was recorded in 25 cases, while 84 children presented with syndromes related to hand anomalies. Conclusions: In conclusion the incidence of hand and upper extremity malformations in Italy is lower than that registered in other countries. The retrospective nature of the study combined with the fact that some defects frequently evade pediatric hand surgeon consultations are some possible limitations of the study. However, our data confirmed that, in spite of the decrease in the birth rate in Italy, the trend of congenital hand disorders maintained a stable trend. We aim to integrate this study with a prospective analysis and to involve the institutional health authorities in other countries so as to register the correct incidence of hand and upper extremity defects.

Antiseizure medications use during pregnancy and congenital malformations: A retrospective study in Saudi Arabia

AimTo evaluate the incidence of congenital malformations in children exposed prenatally to antiseizure medications (ASMs), to assess other perinatal and fetal complications, and to determine the potential predictors for these complications. MethodA retrospective review of pregnancy outcomes of women with epilepsy. Patients were followed up at the King Faisal Specialist Hospital and Research Centre, Riyadh and Jeddah, Saudi Arabia, between Dec 1993 and Oct 2020. ResultsOf 162 pregnancies included, 10 (6.17%) congenital malformations were observed, 6.82% in ASM-exposed babies versus 3.33% in babies of epilepsy-untreated mothers (P = 0.69). The overall incidence of perinatal and fetal complications was 53%; most frequent were low birth weight (24%), preterm birth (19%), transfer to neonatal intensive care unit (18%) and abortion (8%). These complications were higher in the untreated group (66.67%) than in the ASM group (50%). The use of other non-antiseizure medications during pregnancy was the only factor that significantly increased the risk of complications. ConclusionPrenatal exposure to ASMs was associated with increased risk of congenital malformations. However, overall perinatal and fetal complications were higher in the untreated group than in the ASM group, which could be explained by maternal seizures. Therefore, taking ASMs to control epilepsy and prevent perinatal complications may outweigh the risks of teratogenicity.

Pattern and determinants of self-medication among pregnant women attending antenatal clinics in primary health care facilities in Ogbomoso, Oyo State, Nigeria

Background: Self medication in pregnancy has continued to be on the front burner of the global public health discourse due to the increased incidence of abortion, foetal malformation and antimicrobial resistance that were found to be associated with it. Inspite of this burden, in Nigeria, most studies on self-medication were conducted on the general population with only a few carried out among pregnant women. Therefore, this study was carried out to determine the prevalence and factors associated with self-medication among pregnant women in Oyo State. Methods: The study was a hospital-based cross-sectional survey. A multi-stage sampling technique was used to select 347 pregnant women who attended antenatal clinics at 56 primary health care facilities in Ogbomoso. A semi-structured, interviewer-administered questionnaire was used to obtain information on the practice of self-medication. Data were analyzed using SPSS version 25; bivariate analysis was done using Chi-square and binary logistic regression was used to identify the predictors of self-medication in pregnancy. The level of statistical significance was set at p < 0.05. Results: The mean age of the respondents was 27.0 ± 6 years. The majority (76.6%) of the respondents had poor knowledge of self-medication. About half of the respondents self-medicated with the analgesics (83.1%), antibiotics (66.7%) and antimalarial drugs (28.9%). Nausea and vomiting (90.4%), diarrhoea (67.8%), back pain (62.1%) and fever (28.8%) were the common medical problems. The main reasons for self-medication were previous experience with the drugs (50.9%), the suggestion by family about the drugs (45.2%) and advice from the community pharmacists (31.6%). The proportion of the respondents who used herbal concoction was 30.0% and the reasons given for the herbal use were low cost (47.6%) and perceived efficacy (42.9%). The proportion of pregnant women who gave a history of abnormality in the previously born baby (ies) was 13.0%. Cleft lip (66.7%) was the most prevalent abnormality. The determinants of self-medication were age (aOR: 0.7, 95% CI: 0.33- 0.97), education (aOR: 0.7, 95% CI: 0.49 - 0.99), confidence in other health workers’ prescription (aOR: 0.4, 95% CI: 0.15 – 0.88), relief from discomfort (aOR: 2.8, 95% CI: 1.46 – 5.42) and suggestion by families (aOR: 3.6, 95% CI: 1.62 – 8.05). Conclusion: The prevalence of self-medication was high and was more pronounced among married, urban dwellers and those with post-basic education including the respondents aged 25 years and above. This may be explained by the higher proportion of the respondents with poor knowledge of self-medication. Health education, especially during antenatal clinics, on the dangers associated with self-medication in pregnancy, is therefore recommended.

Determination of Extra Craniofacial Abnormalities in Patients With Craniofacial Microsomia

Craniofacial microsomia (CFM) is caused by abnormalities in the development of the first and second pharyngeal arches. One-third to half of the patients with CFM also present with extra craniofacial (ECF) malformations. The knowledge of the visceral alteration related to CFM is vital for optimized care and a better prognosis. To describe the incidence of ECF malformations in patients with CFM and to infer if there was a correlation between CFM and ECF malformations. The authors analyzed medical records of patients diagnosed with CFM from 1996 to 2006. The data collected included age, gender, category of craniofacial alteration, and the type of ECF malformation when present. The sample was inspected to find possible correlations between craniofacial abnormalities and ECF malformations. The sample included 102 patients, with a mean age of 7 years and a predominance of males (61.8%). Ear malformations (93.1%) followed by mandible (59.8%) and facial nerve (10.8%) abnormalities were the most common CFM. Among patients with CFM, 37.2% had ECF involvement, mainly in vertebrae (20%), heart (11%), and limbs (9.8%). Multivariate analysis revealed that the presence of ear malformations was related to a higher incidence of nonspecific visceral malformations (P = 0.034) and that mandible malformation was related to an increased incidence of vertebral malformations (P = 0.008). A significant percentage of patients with CFM presented associated ECF impairment. Ear and mandible involvement may be predictors of nonspecific visceral malformation and vertebral malformations, respectively.

&lt;i&gt;Spina bifida&lt;/i&gt;: a multidisciplinary problem (a literature review)

BACKGROUND: Congenital malformations of the spine and spinal cord can be combined with various clinical manifestations of the spine, spinal cord, and lower extremities. Children with these neurological disorders often lack sensitivity and motor activity of their lower extremities and, in most cases, have bladder infections and incontinence (lack of bladder and bowel control).&#x0D; AIM: This study aims to analyze publications with the diagnostic and treatment results of patients with neurological, orthopedic, neurological, and ophthalmological problems with spina bifida.&#x0D; MATERIALS AND METHODS: We searched PubMed, Web of Science, Scopus, MEDLINE, eLibrary, and RSCI databases and found about 2000 references and 374 articles. We selected 60 articles for review in orthopedics, neurosurgery, urology, and ophthalmology.&#x0D; RESULTS: Neural tube defects are a wide range of congenital malformations, including skull defects and open or closed spinal dysraphism. The incidence of spine and spinal cord malformations in different countries is quite broad and amounts to 0.3199.4 cases per 10,000 births worldwide. Spinal cord malformations often occur in combination with bladder infections and incontinence, limb deformities, and other central nervous system developmental anomalies. Among the orthopedic problems leading to impaired support function, the most common are foot deformities and hip joint instability. Orthopedic monitoring of a patient with spina bifida consists of mainly preventing or correcting deformities according to the rehabilitation potential of the child. The timely completion of treatment allows the child to maintain mobility and independence of movement daily activities. At the same time, such treatment must pursue realistic goals according to the potential motor level of the child. In addition to neurosurgical and orthopedic problems, most children with spina bifida (88%94%) suffer from pelvic disorders. A urologist should observe a patient with spina bifida to perform ultrasound and laboratory monitoring of both the lower and upper urinary tract conditions from an early age. Timely procedures to eliminate urinary retention and sanitation can maintain normal kidney function and contribute to the adequate conduct of motor and neurological rehabilitation of the child. The most common complication of spina bifida is the Chiari II malformation, which is manifested by damage to brain stem structures and internal occlusal hydrocephalus with various symptoms, including neuroophthalmological signs.&#x0D; CONCLUSIONS: A multidisciplinary team of specialists comprising a neurologist, neurosurgeon, urologist, orthopedic surgeon, ophthalmologist, orthosis specialist, and psychologist should be involved in treating the children with the above presented problems. The use of an integrated approach to treat this group is absolutely justified and enabled the maximum rehabilitation potential of the child to be achieved.

The presence, morphology and clinical significance of vertebral body malformations in an Australian population of French Bulldogs and Pugs.

To describe the incidence, morphology and clinical significance of congenital vertebral malformations (CVM) in two breeds of brachycephalic dogs presenting to a referral veterinary hospital. Prospective cohort study series. Forty-nine French Bulldogs and Pugs were prospectively evaluated and placed in one of two groups based on whether or not they presented for neurological signs referable to spinal cord disease. A computed tomography (CT) of their entire spine was obtained and the presence and classification of CVM along with the degree of spinal kyphosis recorded for all dogs. Statistical analysis was performed to identify clinical associations between these factors (P < 0.05). CVM were prevalent across both breeds with the French Bulldog having more malformations than the Pug (Kruskal-Wallis nonparametric analysis of variance, P < 0.0001). Breed associated vertebral malformation subtypes included butterfly subtype in French Bulldogs (Chi-square, P=0.0002), and transitional subtype in Pugs (odds ratio, 22.7; P=0.000). A new subtype, dorsal wedge, was observed in 12 cases. The presence, number and subtype of vertebral malformation were not reliable for predicting the development of neurological signs across both breeds (Chi-square, P > 0.05). However, spinal kyphosis >35° calculated via Cobb angle was associated with Pugs that had neurological deficits (Chi-square, P=0.028). Congenital vertebral malformations largely appear to be incidental findings in this population of French Bulldogs but are of more significance in the Pug breed when spinal kyphosis is >35°. French Bulldogs that have spinal cord disease and CVM are more likely to have pathology distant to CVM with intervertebral disc herniation most common.

Results of Colostomy Use in Children with Anorectal Malformation

Introduction. Anorectal malformations in children are still one of the most challenging problems in pediatric coloproctology. The incidence of anorectal malformations in recent years has no tendency to decrease and, according to various authors, ranges from 1 in 4000-5000 live births. Most pediatric surgeons continue to adhere to the opinion about the advisability of preliminary colostomy and delayed proctoplasty at the age of 6-18 months or when the child reaches a certain body weight (8-10 kg.). They are motivating this tactic with the possibility of creating an optimal condition for performing a complex intervention, reducing anesthetic risk, avoiding technical errors. Objective is to improve treatment outcomes for anorectal malformations in children with prior colostomy. Materials and methods. The work is based on the results of treatment of 154 children with anorectal malformation, with preliminary colostomy in the clinic of the Tashkent Pediatric Medical Institute for the period from 2000 to 2020. Along with routine and general clinical examination methods, all children underwent: X-ray of the abdominal cavity, colostography, fistuloirrigography, excretory urography, cystography, ultrasound of the perineum (small pelvis), neurosonography (NSG) screening tests. Results. 154 (10*0%) children had colostomy as a palliative stage of treatment. Of these 117 (76%) children developed colostomy on the first day of life, with the development of intestinal obstruction. In 37 (24%) children, the formation of a colostomy was performed directly by us. 9 (5.8%) children as the first stage before primary radical correction with a high form of the defect and 10 (6.5%) children previously operated on and requiring re-corrective operations, 5 (3.2%) patients underwent colostomy after the development of complications in the early postoperative period. In 13 (8.5%) cases, colostomies were formed with identified concomitant anomalies and defects that clinically "dominated" over anorectal malformation. In 2 (5.4%), a double sigmastoma was imposed, in 2 (5.4%) a distal single-barreled sigmastoma, in 5 (13.5%) the Hartmann type terminal sigmastoma. Conclusion. The use of colostomy in children with anorectal malformation made it possible to carry out the necessary surgical tactics in a timely and differentiated manner. To reduce the frequency, nature of complications and early disability, to improve the quality of life and social adaptation of patients.

Cementum Malformations-Diagnostic Dilemma: Study in Western Maharashtra Population.

Aim:The present study was study to observe incidence of cemental malformations related to mandibular molar roots.Materials and Methods:All cases requiring radiographs of mandibular molars reporting to author during 2011–2019 were included in this study. Mandibular molars had been observed for any radiographic malformations. Any such alterations were noted.Results:Author has screened about 522 intraoral periapical radiographs in this study. A total of 63 cases of root malformations reported with two cases of cementoma were observed in this study. Both these cases were diagnosed as benign cementoblastoma (BC) on excisional biopsy.Conclusion:In this study, we have observed that incidence of cemental malformations is 1.2% and of BC is 0.38% as compared to overall incidence of 1%–6% in Western Maharashtra.

Congenital Craniofacial Abnormalities in Olive Ridley Sea Turtle Hatchlings

The Olive Ridley (Lepidochelys olivacea), is the most abundant species of sea turtles in the world, but is still threatened according to the red list of endangered species. Apparently, the Olive Ridley turtle seems more prone to congenital malformations compared to other species of sea turtles. In northwestern Mexico, an incidence of congenital malformations of 2% has been reported for this species, most of which occur in the craniofacial region (49%). The objective of this study was to deduce the etiology of the malformations based on the pattern of the affected structures. During the 2019 nesting season at El Caimanero nesting beach, Sinaloa, Mexico, 11 specimens with external craniofacial malformations and 10 that did not show external malformation were collected. The normal animals hatched, but died from other natural causes within the nests. Specimens were divided between histological analysis or µCT with phosphotungstic acid contrast enhancement. Specimens with malformations consistent with a Holoprosencephaly (HPE) phenotype were detected (Table 1). Analysis PTA staining and µCT showed there was a single external naris. There was variability in the morphology of the nasal passages. Other midline structures were also deficient including absent interorbital septum and small premaxilla. However, two other cardinal signs of severe HPE were not seen. The brain was divided into right and left hemispheres and the eyes were separated. There were additional defects in the mandible affecting mesodermal derivatives of the first arch. The tongue was severely hypoplastic and the musculature in the floor of the oral cavity was deficient. The tracheal opening was also displaced posteriorly in the tongue compared to the usual position in the center of the tongue. The nasal defects may be caused by a hypoplastic frontonasal process which allows merging of the nasal pits. The muscular deficiencies in the tongue are likely due to incomplete formation of lingual swellings in the first pharyngeal arch. Nasal development was normal in the majority of animals and the most common defect was mandibular deviation combined with hypoplasia. The defects observed are consistent with a mild form of HPE but also with ciliopathies that include tongue agenesis. Further histological analysis will be carried out to assess cellular and molecular phenotypes. This work suggest pleotropic environmental effects cause the embryonic defects after the eggs are oviposited in the nest. This turtle species lays eggs with embryos in the gastrula stage of development, reaching pharyngula stage, 3-4 days after laying. Therefore, we postulate an exposure to an environmental teratogen in the first 4 days is responsible for the congenital abnormalities.

Mild periconceptional hyperglycemia: predictor of adverse fetomaternal outcomes in gestational diabetes?

To clarify whether mild first trimester hyperglycaemia (characteristic of early-onset GDM) is associated with higher incidence of congenital malformations and other adverse fetomaternal outcomes compared to women with second trimester hyperglycaemia (later-onset GDM). We analyzed the Portuguese National GDM database, containing data collected between 2011 and 2017. Two study groups were defined: Group 1-Women with GDM diagnosed during the first trimester (with fasting glycemia ≥ 92 and < 126mg/dL); Group 2-Women with GDM diagnosed after the first 12weeks of gestation, with either fasting glycemia or oral glucose tolerance test, according to the International Association of Pregnancy and Diabetes Study Group criteria. The fetomaternal characteristics of each group were compared. A total of 18.518 pregnant women diagnosed with GDM were included which 34.4% of them belonged to Group 1. Pregnant women from this group were significantly younger and had a higher median BMI than the women from the other group. Overall, there was no significant differences in maternal morbidity parameters between groups. Non-evolutive pregnancies were significantly more frequent along the present gestation in the group 1 (1.1% vs. 0.1%, p < 0.001), as was fetal death (0.6% vs. 0.2%, p < 0.001). Congenital malformations did not differ significantly between groups (3.2% vs. 2.8%, p = 0.155). The mild near conceptional hyperglycaemic state characteristic of an early-onset GDM seems to be associated with an increased prevalence of non-evolutive pregnancies and foetal deaths when compared to later-onset GDM.

The Role of Polymeric Coatings for a Safe-by-Design Development of Biomedical Gold Nanoparticles Assessed in Zebrafish Embryo.

In the biomedical field, gold nanoparticles (GNPs) have attracted the attention of the scientific community thanks to their high potential in both diagnostic and therapeutic applications. The extensive use of GNPs led researchers to investigate their toxicity, identifying stability, size, shape, and surface charge as key properties determining their impact on biological systems, with possible strategies defined to reduce it according to a Safe-by-Design (SbD) approach. The purpose of the present work was to analyze the toxicity of GNPs of various sizes and with different coating polymers on the developing vertebrate model, zebrafish. In particular, increasing concentrations (from 0.001 to 1 nM) of 6 or 15 nm poly-(isobutylene-alt-maleic anhydride)-graft-dodecyl polymer (PMA)- or polyethylene glycol (PEG)-coated GNPs were tested on zebrafish embryos using the fish embryo test (FET). While GNP@PMA did not exert significant toxicity on zebrafish embryos, GNP@PEG induced a significant inhibition of embryo viability, a delay of hatching (with the smaller size NPs), and a higher incidence of malformations, in terms of tail morphology and eye development. Transmission electron microscope analysis evidenced that the more negatively charged GNP@PMA was sequestered by the positive charges of chorion proteins, with a consequent reduction in the amount of NPs able to reach the developing embryo and exert toxicological activity. The mild toxic response observed on embryos directly exposed to GNP@PMA suggest that these NPs are promising in terms of SbD development of gold-based biomedical nanodevices. On the other hand, the almost neutral GNP@PEG, which did not interact with the chorion surface and was free to cross chorion pores, significantly impacted the developing zebrafish. The present study raises concerns about the safety of PEGylated gold nanoparticles and contributes to the debated issue of the free use of this nanotool in medicine and nano-biotechnologies.

Fertility considerations in targeted biologic therapy with tyrosine kinase inhibitors: a review

To review the impact of tyrosine kinase inhibitors (TKIs) on fertility in men and women, embryo development, and early pregnancy, and discuss considerations for fertility preservation in patients taking TKIs. A comprehensive literature search using the PubMed database was performed through February 2021 to evaluate the current literature on imatinib, nilotinib, dasatinib, and bosutinib as it relates to fertility and reproduction. Published case series were analyzed for pregnancy outcomes. TKIs adversely affect oocyte and sperm maturation, gonadal function, and overall fertility potential in a self-limited manner. There are insufficient studies regarding long-term consequences on fertility after discontinuation of TKIs. A total of 396 women and 236 men were on a first- or second-generation TKI at the time of conception. Of the women with detailed pregnancy and delivery outcomes (n = 361), 51% (186/361) resulted in a term birth of a normal infant, 4.3% (16/361) of pregnancies had a pregnancy complication, and 5% (20/361) of pregnancies resulted in the live birth of an infant with a congenital anomaly. About 22% of pregnant women (87/396) elected to undergo a termination of pregnancy, while 16% (63/396) of pregnancies ended in a spontaneous abortion. In contrast, of the 236 men, 87% conceived pregnancies which resulted in term deliveries of normal infants. Elective terminations, miscarriage rate, pregnancy complication rate, and incidence of a congenital malformation were all less than those seen in females (4%, 3%, 2%, and 2.5%, respectively). Women should be advised to avoid conception while taking a TKI. Women on TKIs who are considering pregnancy should be encouraged to plan the pregnancy to minimize inadvertent first trimester exposure. In women who conceive while taking TKIs, the serious risk of relapse due to discontinuation of TKI should be balanced against the potential risks to the fetus. The risk of teratogenicity to a fathered pregnancy with TKI use is considerably lower. Fertility preservation for a woman taking a TKI can be considered to plan a pregnancy with a minimal TKI-free period. With careful monitoring, providers may consider a TKI washout period followed by controlled ovarian stimulation to cryopreserve oocytes or embryos, with a plan to resume TKIs until ready to conceive or to transfer an embryo to achieve pregnancy quickly. Fertility preservation is also indicated if a patient on TKI is requiring a gonadotoxic therapy or reproductive surgery impacting fertility.

Sonographic and Hysteroscopic Assessment of Uterine Congenital Malformations: A Retrospective Study

Aim: Congenital uterine malformations are often diagnosed via Transvaginal Sonography (TVS) and/or office hysteroscopy. Few studies address the diagnostic accuracy of both techniques in detecting these abnormalities. The aim of this study is to evaluate sonographic and hysteroscopic findings in women with uterine congenital malformations. Methods and Materials: A nested retrospective study on 137 medical records of women with congenital malformations undergoing vaginoscopic office hysteroscopic and transvaginal sonographic assessment in the Endoscopic Unit, Department of Gynaecology, University Hospital of Ioannina, Greece was conducted. All women were examined initially via Transvaginal Sonography (TVS) and the sonographic findings were correlated with the hysteroscopic findings. Women with septate or bicornuate uteri confirmed their pathology through laparoscopy, a proposed gold standard technique. Result: Hysteroscopy was able to detect 136 out of 137 cases of congenital malformations with a false positive bicornuate uterus. Transvaginal sonography (TVS) showed moderate diagnostic accuracy accompanied by positive predictive value (PPV) at 79.79%, negative predictive value (NPV) at 99.17%, sensitivity at 79.79%, and finally specificity at 99.17%. Endometrial thickness assessed by TVS was found to be higher in cases of complete septate and bicornuate uteri. The incidence of congenital malformation within the total population was estimated at 4.56%. Conclusion: Diagnostic hysteroscopy is a reliable tool in detection uterine congenital malformations compared to two-dimensional sonography. Office hysteroscopy demonstrates high diagnostic accuracy and should replace traditional sonographic assessment in determining congenital uterine malformations. Clinical significance: Hysteroscopy is superior than TVS in detecting uterine congenital malformations.

Gestational folic acid deficiency alters embryonic eye development: Possible role of basement membrane proteins in eye malformations

ObjectivesFolic acid (FA) is crucial before and during early pregnancy. FA deficiency can occur because dietary FA intake is low in mothers at the time of conception. Likewise, various ocular pathologies are related to the alteration of extracellular matrices. The present study aimed to investigate the association between maternal FA deficiency and congenital eye defects. We also investigated whether maternal diet deficient in FA alters the expression of collagen IV and laminin-1 as a possible mechanism responsible for the appearance of ocular malformations. Both proteins are the main components of the basal lamina, and form an interlaced network that creates a relevant scaffold basement membrane. Basal laminae are involved in tissues maintenance and implicated in regulating many cellular processes. MethodsA total of 57 mouse embryos were classified into the following groups: Control group, (mothers were fed a standard rodent diet), and D2 and D8 groups (mothers were fed FA-deficient [FAD] diet for 2 or 8 wk, respectively). Female mice from group D2 were fed a FAD diet (0 mg/kg diet + 1% succinyl sulfathiazole used to block the synthesis of FA) for 2 wk from the day after mating until day 14.5 of gestation (E14.5). On the other hand, female mice from group D8 were fed a FAD diet for 8 wk (6 wk before conception and during the first 2 wk of pregnancy). For the data analysis, we first estimated the incidence of malformations in each group. Then, the statistical analysis was performed using IBM SPSS Statistics, version 25.0. Expression patterns of collagen IV and laminin-1 were examined with the immunohistochemical technique. ResultsOur results showed that mice born to FA-deficient mothers had several congenital eye abnormalities. Embryos from dams fed a short-term FAD diet were found to have many significant abnormalities in both anterior and posterior segments, as well as choroidal vessel abnormalities. However, embryos from dams fed a long-term FAD diet had a significantly higher incidence of eye defects. Finally, maternal FA deficiency increased the expression of both collagen IV and laminin-1. Likewise, changes in the spatial localization and organization of collagen IV were observed. ConclusionsA maternal FAD diet for a short-term period causes eye developmental defects and induces overexpression of both collagen IV and laminin-1. The malformations observed are probably related to alterations in the expression of basement membrane proteins.

Pregnancy outcome after first trimester exposure to domperidone-An observational cohort study.

AimTo assess the teratogenic risk of domperidone by comparing the incidence of major malformation with domperidone to a control.MethodsPregnancy outcome data were obtained for women at two Japanese facilities that provide counseling on drug use during pregnancy between April 1988 and December 2017. The incidence of major malformation was calculated among infants born to women taking domperidone (n = 519), nonteratogenic drugs (control, n = 1673), or metoclopramide (reference, n = 241) during the first trimester of pregnancy. Using the control group as reference, the crude odds ratio (OR) of the incidence of major malformation in the domperidone and metoclopramide groups was calculated using univariable logistic regression analysis. Adjusted OR was also calculated using multivariable logistic regression analysis adjusted for various other factors.ResultsThe incidence of major malformation was 2.9% (14/485, 95% confidence interval [CI]: 1.6–4.8) in the domperidone group, 1.7% (27/1554, 95%CI: 1.1–2.5) in the control group, and 3.6% (8/224, 95%CI: 1.6–6.9) in the metoclopramide group. The adjusted multivariable logistic regression analysis showed no significant difference in incidence between the control and domperidone groups (adjusted OR: 1.86 [95%CI: 0.73–4.70], p = 0.191) or between the control and metoclopramide groups (adjusted OR: 2.20 [95%CI: 0.69–6.98], p = 0.183).ConclusionsThis observational cohort study showed that domperidone exposure during the first trimester was not associated with increased risk of major malformation in infants. These results may help alleviate the anxiety of patients who took domperidone during pregnancy.

Adaptation of the cardiovascular system of infants born by mothers with diabetes mellitus

It is known, that diabetes mellitus has a significant impact on the growth and development of the fetus. Hyperglycemia during pregnancy increases significantly the incidence of congenital malformations, perinatal morbidity and neonatal mortality. Over the past decades has been a steady increase in the prevalence of diabetes mellitus both in the general population and among pregnant women. In this regard, the study of the influence of diabetes mellitus in the mother on the condition of the fetus and newborn is today a relevant problem of obstetric-gynecological, neonatological and pediatric services. Hyperglycemia during pregnancy has the greatest effect on the fetal cardiovascular system. Diabetes mellitus of the mother causes an increase in the frequency of congenital heart defects in the newborn, myocardial hypertrophy, as well as various functional disorders of the cardiovascular system.This review mainly discusses the pathogenetic aspects and molecular mechanisms of the effect of hyperglycemia on the development of the fetal heart, provides an assessment of clinical, echocardiographic and some laboratory changes in the functioning of the cardiovascular system in newborns from mothers with diabetes mellitus, and also systematizes data on the relationship between maternal diabetes and the risks of cardiovascular disease in their children in the long term.

Successful Surgery of Severely Comorbid Cystic Pulmonary Hypoplasia

Background . Cystic pulmonary hypoplasia is a malformation of terminal bronchial tree as a cystic dilatation of various size at the level of subsegmental bronchi or bronchioles, which accounts for 60–80% of the overall malformation incidence. Materials and methods . We present a descriptive case of general clinical picture, diagnostic radiological examination and choosing a strategy for surgical diagnosis and treatment of cystic pulmonary hypoplasia. Patient K., 57 yo, was admitted to the Republican Clinical Tuberculosis Dispensary with fibroatelectasis of the right lung lower lobe and underlying subcompensated diabetes type II, inspected by a phthisiatrician, thoracic surgeon and referred for surgical treatment. Results and discussion. A careful history inspection and X­ray data in most cases suffice to successfully diagnose the congenital type of cystic pulmonary defects. Treatment in such patients is personalised, with preference towards surgical intervention. A correct diagnosis is usually conditioned by a detailed and careful examination of the lung morbid morphology during surgery. Conclusion . Modern instrumental methods, with multispiral computed tomography in particular, are key to correctly diagnose a malformation. Relevant case reports are of interest and importance to advance research into causative factors of the disease.

Association of neural tube defects with congenital abnormalities of the urogenital system in a Chinese cohort

BackgroundThis study aimed to retrospectively analyze the correlation between congenital abnormality of the urogenital system and various factors in children with neural tube defects (NTDs).MethodsA total of 190 children with congenital NTDs, who were admitted to a hospital from May 2013 to May 2018, were included into the present study. All admitted children with congenital NTDs were carried out routine abdominal B-ultrasound examinations to determine the malformations of the abdominal organs, including the urinary system. Children with a B-ultrasound result of suspected and unsure malformation underwent intravenous pyelography (IVP) and voiding cysto-urethrography (VCU), and this was further confirmed by the CT results.ResultsThe incidence of urogenital malformation was 12.1% (23/190) in children with congenital NTDs. For the 23 children with urogenital malformations, most of these children had no definite urinary system symptoms, while some of these children had multiple incidences of urinary system infections.ConclusionsCongenital NTDs are often combined with urogenital malformations, if not specifically searched these may be overlooked. The early detection of these malformations is beneficial to reduce the risk of operation and improve the prognosis.