Incidence Of Congenital Malformations Research Articles

Diseases and syndromes associated with unilateral renal agenesis in children

The incidence of congenital malformations is increasing annually, with a single kidney developmental disorder accounting for 4–8% of urinary system malformations. If the contralateral organ is normal, agenesis of the kidney is not clinically apparent and is usually detected during a preventive examination of the child or during an examination for combined anomalies of the genitourinary and urinary system.This pathology occurs due to a disruption of the interstitial interaction between the ureteral bud and the metanephrogenic tissue from 4th to 8th gestation weeks. By this time, the mesonephral (Wolff) ducts are already fully formed, in contrast to the paramesonephral (Müllerian) ducts, which develop only by the 5th week of the intrauterine period, that is, in the period of high risk of malformations of the urinary system. Accordingly, anomalies of the female genital system are more common than those of the male one, with concomitant agenesis of the ipsilateral kidney. Diagnosis of unilateral agenesis of the kidney is possible when performing routine antenatal screening or conducting preventive examinations at decreed dates. In girls, the most common genital anomalies are true unicornuate uterus (65%), bicornuate uterus with one rudimentary horn (7.3%), atrophy of one fallopian tube and ovary, absence or hypoplasia of the vagina, and vaginal doubling. In boys with unilateral agenesis of the kidney, the seminal vesicles, prostate gland, and testicular appendage may be rudimentary or absent. Agenesis of the kidney is a component of such genetic syndromes as OHVIRA, Kallman, Zinner, and Mayer–Rokitansky–Küster–Hauser syndromes. It is also combined with other congenital anomalies of the kidney and urinary tract and extrarenal anomalies, including mainly malformations of the gastrointestinal tract, heart and musculoskeletal system. Consequently, children with this pathology should be fully screened to rule out associated malformations and anomalies.

Prevalence of congenital malformation among neonates born after the use of progesterone for luteal support during IVF and ICSI cycles

Introduction: This study assessed the prevalence of congenital malformation among neonates born after using progesterone for luteal support in patients undergoing IVF and ICSI cycles. Methods: This retrospective cohort study was conducted in the Reproductive Endocrinology and Infertility Department of a tertiary hospital. Two groups were compared: one group received only Cyclogest or Crinone gel, and the other group received a combination of Cyclogest or Crinone gel with Proluton Depot injection Results: A total of 91 patients were included, all of whom took progesterone during their IVF and ICSI cycles. The minimum age of the participants was 21, and the maximum was 41. 16.5% (n=15) patients who received progesterone for luteal support during their IVF and ICSI cycles gave birth to infants with congenital malformation, while 76 (83.5%) did not. The most commonly observed congenital malformation was patent ductus arteriosus, observed in 5 cases (5.49%), followed by delayed speech observed in 2 (2.2%). Brachydactyly, Down syndrome, autism spectrum disorder, and a number of other conditions were observed at a rate of 1.1%. Ultimately, no significant association was found between the two groups and the incidence of congenital malformations (p = 0.121). Conclusion: Our review indicates that the incidence of congenital anomalies was similar across the different treatment groups.

Initiation and duration of folic acid supplementation in preventing congenital malformations

BackgroundFolic acid (FA) supplementation is associated with a lower risk of the neural tube and heart defects and is recommended for women of childbearing age. Although there are detailed recommendations, differences in the initiation time and duration of FA supplementation remain poorly studied.MethodsA multicentre prospective study of 17,713 women was conducted. The incidence of congenital malformations in women taking a recommended dosage (e.g. 0.4 or 0.8 mg/day) of FA was compared with that in women without supplementation. The predicted probability of malformations by the initiation time and duration of FA use was estimated to determine optimal options.ResultsPericonceptional FA supplementation was associated with a lower and insignificant risk of congenital malformations (1.59% vs. 2.37%; odds ratio [OR] 0.69; 95% confidence interval [CI]: 0.44–1.08), heart defects (3.8 vs. 8.0 per 1000 infants; OR, 0.47; 0.21–1.02), and neural tube defects (7.0 vs. 11.5 per 10,000 infants; OR, 0.64; 0.08–5.15). FA use after pregnancy provided greater protection against total malformations. Statistically significant associations were found in women who initiated FA supplementation in the first month of gestation (OR, 0.55; 95% CI: 0.33–0.91) and in those who supplemented for 1 to 2 months (OR, 0.59; 95% CI: 0.36–0.98). Similar results were found for heart defects. The optimal initiation time was 1.5 (optimal range: 1.1 to 1.9) months before pregnancy and a duration of 4.0 (3.7 to 4.4) months was reasonable to achieve the lowest risk of congenital malformations. Heart defect prevention required an earlier initiation (2.2 vs. 1.1 months before pregnancy) and a longer duration (4.7 vs. 3.7 months) than the prevention of other malformations.ConclusionsThe timely initiation of FA supplementation for gestation was associated with a decreased risk of congenital malformations, which was mainly attributed to its protection against heart defects. The initiation of FA supplementation 1.5 months before conception with a duration of 4 months is the preferred option for congenital malformation prevention.Trial registrationChictr.org.cn identifier: ChiCTR-SOC-17010976.

Teratogenesis and the epigenetic programming of congenital defects: Why paternal exposures matter.

Until recently, clinicians and researchers did not realize paternal exposures could impact child developmental outcomes. Indeed, although there is growing recognition that sperm carry a large amount of non-genomic information and that paternal stressors influence the health of the next generation, toxicologists are only now beginning to explore the role paternal exposures have in dysgenesis and the incidence of congenital malformations. In this commentary, I will briefly summarize the few studies describing congenital malformations resulting from preconception paternal stressors, argue for the theoretical expansion of teratogenic perspectives into the male preconception period, and discuss some of the challenges in this newly emerging branch of toxicology. I argue that we must consider gametes the same as any other malleable precursor cell type and recognize that environmentally-induced epigenetic changes acquired during the formation of the sperm and oocyte hold equal teratogenic potential as exposures during early development. Here, I propose the term epiteratogen to reference agents acting outside of pregnancy that, through epigenetic mechanisms, induce congenital malformations. Understanding the interactions between the environment, the essential epigenetic processes intrinsic to spermatogenesis, and their cumulative influences on embryo patterning is essential to addressing a significant blind spot in the field of developmental toxicology.

P-761 Live-birth and neonatal outcomes from BEYOND, a randomised controlled trial comparing efficacy and safety of individualised follitropin delta dosing in GnRH agonist versus antagonist protocols

Abstract Study question What are the live birth and neonatal outcomes following an individualised follitropin delta dosing regimen in either a long GnRH agonist or GnRH antagonist protocol? Summary answer Live birth rates and neonatal outcomes were similar, supporting the efficacy and safety of follitropin delta in both GnRH agonist and antagonist protocols. What is known already Follitropin delta is used for ovarian stimulation and is administered as a fixed daily dose, individualised based on bodyweight and anti-Müllerian (AMH) levels. Registrational trials for follitropin delta used a GnRH antagonist protocol. Preliminary study data shows that individualized follitropin delta is efficacious when used with a long GnRH agonist protocol (RAINBOW trial); however, there is no comparative data for the effects on live birth rates and neonatal outcomes with individualised follitropin delta in a long GnRH agonist versus an antagonist protocol. Study design, size, duration This RCT compared the efficacy and safety of individualised follitropin delta dosing using a long GnRH agonist versus an antagonist protocol and was conducted between May 2019 and February 2022. The trial was designed to describe potential differences in the number of oocytes retrieved between the two GnRH analogue protocols (reported separately). A total of 437 participants were randomised, with a post-trial follow-up period to 4 weeks after birth to record birth and neonatal outcomes. Participants/materials, setting, methods Participants were 18–40 years old with AMH ≤35 pmol/L, undergoing their first ovarian stimulation cycle for IVF/ICSI at specialist reproductive health clinics in Austria, Denmark, Israel, Italy, the Netherlands, Norway and Switzerland.Live birth rates were compared using a logistic regression model with age and AMH at screening as factors. Multiple imputation was used for randomised subjects withdrawing before start of stimulation. Subjects with transfer cancellation due to COVID-19 related reasons were excluded. Main results and the role of chance All participants had a single blastocyst transferred, except two participants ≥38 years in the agonist group who received a double transfer resulting in one dichorionic diamniotic pregnancy for one subject, complicated by maternal hypertension and preterm birth at 33 weeks. All 133 participants with ongoing pregnancies (138 fetuses) were included in this post-trial follow-up analysis. Late pregnancy losses (after confirmed ongoing pregnancy) were similar in the agonist and antagonist groups (2.7% and 1.7%). There were 130 live births (agonist group: 75 neonates [67 singletons; 4 sets of twins]; antagonist group: 60 neonates [58 singletons; 1 set of twins]). Estimated live-birth rates were 35.8% and 28.7% in the agonist and antagonist groups, respectively, per started cycle (treatment difference 7.15%; 95% CI: –2.02; 16.31; p = 0.1265). There were two neonatal deaths in the agonist group – a set of monochorionic twins born at gestational age 24 weeks + 2 days died shortly after birth due to prematurity. The two treatment groups were comparable with respect to neonatal health data for singletons and twins, and incidence of congenital malformations (2.7% and 3.3%, respectively). Neonatal admissions to intensive care units were similar for both groups (10 and six neonates, respectively). Limitations, reasons for caution Double blastocyst transfer was permitted for participants ≥38 years with no good-quality blastocysts. Neonatal health is dependent on singleton/twin status. Outcomes of transfers with cryopreserved blastocysts were not followed up – the cumulative live birth rates and neonatal outcomes after cryo-transfer are not known. Wider implications of the findings The safety profile of individualised follitropin delta dosing was similar in GnRH agonist and antagonist protocols. Live birth rates following individualised follitropin delta were also similar for both GnRH protocols. There were no safety concerns with respect to the neonatal health after ovarian stimulation with follitropin delta. Trial registration number ClinicalTrials.gov identifier: NCT03809429; EudraCT number: 2017-002783-40

Diabetes and Pregnancy

The quality of metabolic control at the beginning of pregnancy already determines the course and outcome of pregnanies with type 1 and type 2 diabetes mellitus. The preconceptional counseling and support provided by experienced teams is more important than modern technical equipment with insulin pumps and sensors for continuous glucose measurement. The incidence of congenital malformations is significantly reduced by a periconceptional HbA1c level < 6.5 % and folic acid supplementation started preconceptionally. To prevent preeclampsia, all women with type 1 and type 2 diabetes mellitus should be offered low-dose ASA, starting before 16 weeks of pregnancy. If the pregnant woman has a BMI < 25 kg/m² and persistently elevated fasting blood glucose levels, a GCK-MODY should be considered. For the diagnosis of asymptomatic gestational diabetes mellitus, all women in Germany with 24 + 0 to 27 + 6 weeks of pregnancy are offered a two-stage screening. Structured follow-up care is required after gestational diabetes mellitus, because these women have an increased risk of developing type 2 diabetes mellitus and cardiovascular complications. Pregnant women with COVID-19 and hyperglycemia have an increased risk of a severe course of the infection, which is further increased by obesity - they are an important target group for vaccination with an mRNA vaccine.

THE UNPREDICTABLE HISTORY OF THALIDOMIDE

The article reflects the history of thalidomide, synthesized by the West German pharmaceutical company Chemie Gr?nenthal in 1954. Initially the drug was promoted as an effective hypnotic, devoid of the adverse effects of barbiturates. The drug became very popular in Germany and beyond its borders, and had been used in more than 40 countries. At some point thalidomide began to be offered for the treatment of nausea in pregnancy. However with time a gradual increase in the incidence of congenital malformations in children whose mothers took thalidomide during pregnancy was noted. Two doctors – Widukind Lenz and William McBride – are known for drawing public attention to the dangerous consequences of the drug usage in pregnancy. Initially, thalidomide manufacturers denied their guilt, however a numerous number lawsuits obliged pharmaceutical companies to pay huge financial compensations to the victims of thalidomide. In the United States, FDA employee Francis Kelsey became famous for not giving permission for thalidomide for the US pharmaceutical market despite its unrestricted usage in European countries. The article provides information about some thalidomide victims who were able to live an active life and become famous. After the recognition of the thalidomide tragedy the therapeutic usage of the drug seemed to be irrevocably terminated. However, in 1964 the Israeli doctor Yakov Sheskin almost by occasion discovered the therapeutic effect of thalidomide on some types of leprosy. In subsequent years the effectiveness of the drug was reported in a number of other diseases. However, the “thalidomide tragedy” with its teratogenicity is still holding back the widespread use of the drug. The bad experience of thalidomide should be a painful lesson for the pharmaceutical industry, but unfortunately, the story can be repeated, that is exemplified by the obesity drug scandal this year.

Neonatal outcomes and congenital malformations in children born after progestin-primed ovarian stimulation protocol.

The purpose of this study is to assess the safety of progestin-primed ovarian stimulation (PPOS) protocol regarding the neonatal outcomes and congenital malformations in babies born after in vitro fertilization (IVF) and frozen embryo transfer (FET). In this large retrospective cohort study, a total of 16,493 infants born between 1 September 2013 and 31 July 2021 from IVF and FET cycles after treatment with either PPOS (n = 15,245) or gonadotropin-releasing hormone antagonist (GnRH-ant) (n = 1,248) were finally enrolled. The primary outcome measure was the incidence of congenital malformations. The secondary outcome measures were rates of low birth weight (LBW), very low birth weight (VLBW), preterm birth (PTB), very preterm birth (VPTB), and early neonatal death. Birth characteristics for both singletons and twins regarding the sex of infants, gestational age, birth weight, and birth length were comparable between the PPOS group and the GnRH-ant group. Rates of LBW, VLBW, PTB, VPTB, and early neonatal death were also similar. The reanalysis using propensity score matching (PSM) and multivariable logistic regression indicated that the PPOS protocol could not increase the risk of adverse neonatal outcomes compared with the GnRH-ant protocol. Furthermore, no significant difference was observed in the overall incidence of congenital malformations in live-born babies. After PSM and controlling for all confounders, the results remained insignificant with an adjusted odds ratio of 0.66 [95% confidence interval (CI) 0.32-1.34] and 2.43 [95% CI 0.97-6.06], respectively, for singletons and twins. Our study suggests that compared with GnRH-ant treatment for IVF, the PPOS protocol could not produce a negative effect on the newborn population in terms of neonatal outcomes and congenital malformations.

Investigation of the protective effect of vitamin K1 on the heart in streptozotocin induced type 1 diabetes model

Maternal and fetal diabetes are directly associated with increased morbidity and mortality risk. Along with this increased risk, the incidence of congenital malformations in newborns also increases depending on the mother’s diabetes. Vitamin K1 is used as a therapeutic and protective agent in diabetes and various clinical conditions. For this reason, it was aimed to investigate the effect of vitamin K1 on chick embryo hearts immunohistochemically and morphologically by creating type 1 diabetes mellitus with streptozotocin in a chick embryo model. In our study, 5 different experimental groups will be created and a total of 50 SPF fertilized eggs, 10 in each group, will be used. The first group will be the control group, the second group will be the diabetes group, and the other three groups will be the treatment groups given different doses of vitamin K1. All solutions will be given on the 12th day ofincubation, and the hearts of all embryos will be analyzed immunohistochemically and morphologically on the 18th day of incubation. It was determined that the weight, length and ventricular thickness of the chick embryo hearts were statistically significantly decreased in the streptozotocin group compared to the control group embryo hearts. It was determined that the heart weights, lengths, and ventricular thicknesses increased depending on the dose of vitamin K1 compared to the streptozotocin group in the groups therapeutically administered vitamin K1 (p&lt;0.05). In addition, caspase-3 expression was also evaluated in our study, and a statistically significant increase was found in the streptozotocin group compared to the control group. Again, as a result of vitamin K1 administration, caspase-3 expressions decreased depending on the applied dose (p&lt;0.05). In conclusion, it was concluded thatthe therapeutically applied vitamin K1 to diabetes mellitus reduces the degenerative and hyperplastic effects of diabetes mellitus.

Structure and features of the dynamics of primary disability in the adult population of Ukraine as a result of non-oncological urological diseases

Background. The purpose of the work: to study the structure and features of the dynamics of primary disability among the adult population of Ukraine as a result of non-oncological urological diseases. Materials and methods. The reporting form No. 14 of the State Statistics Service of Ukraine, the statistical sources of the Ukrainian State Research Institute of Medical and Social Problems of Disability, documentation of regional centers for medical and social expertise are used. Results. There is a tendency to reduce the number of people recognized as disabled for the first time due to genitourinary diseases. It has been confirmed that prolonging temporary disability contributes to this. The official reporting of the causes of disability by the class of genitourinary diseases is presented only for chronic glomerulonephritis and chronic pyelonephritis; for 5 years, the incidence of the first nosology increased by 13.0 % (to 43.8 % among 1,549 registered), the second — decreased by 37.4 % (to 20.0 % in all regions except Kyiv). At the same time, there was a tendency to reduce the incidence of disability retirement for reasons classified as “others” (36.2 ± 2.0 % vs. 39.0 ± 1.8 % in 2016, and in the Central and Northeastern regions it reached 49.2 ± 2.8 % and 49.6 ± 4.7 %, respectively). Apart from the two above-mentioned pathologies, the structure of disability causes is as follows: the first three places belonged to urolithiasis, polycystic kidney disease, single kidney, the next three — hydronephrosis, congenital malformations and urethral stricture. With age, the incidence of urolithiasis, polycystic kidney disease, hydronephrosis, urethral stricture increases and the incidence of congenital malformations and a single kidney decreases. Over the years, the assignment of the second group of disability decreases (18.1 ± 3.1 % in 2020 vs. 20.4 ± 2.6 % in 2016), with an increase of the third group (67.8 ± 3.8 % vs. 65.3 ± 3.1 %), and stabilization of the first group (14.1 vs. 14.3 %). Conclusions. During the 5-year observation period, 12.9 % more patients avoided disability and 4.7 % less received groups I and II. A decrease by 37.4 % (to 20.0 %) in the share of chronic pyelonephritis as a cause of disability was observed in all regions except Kyiv. Structure of other causes of disability: urolithiasis — 45.0 %, polycystic kidney disease — 22.1 %, single kidney — 18.8 %, hydronephrosis — 15.4 %, congenital defects — 12.1 %, urethral stricture — 4.7 %. Against the background of the general increase in disability assignments with age, group III disability among others was more common (7.7 % — at the age of up to 39 years, 63.1 % — at pre-retirement age, 67.8 % — at retirement age).

History of Recurrent Implantation Failure is Associated With the Incidence of Adverse Perinatal Outcomes in Singleton Live Births Following Frozen-Thawed Embryo Transfer Cycles.

ObjectiveTo investigate whether patients with a history of recurrent implantation failure (RIF) are associated with adverse perinatal outcomes in singleton live births following frozen-thawed embryo transfer (FET) cycles.DesignRetrospective cohort study.MethodsThis study analyzed the obstetric and neonatal outcomes of patients with and without a history of RIF who underwent FET cycles in a single reproductive center between January 2017 and October 2020. A total of 1,100 women with singleton live births beyond 28 weeks of gestation were included. The primary outcome measures were perinatal outcomes, especially gestational age, birthweight, preterm birth (PTB), large for gestational age (LGA), small for gestational age (SGA), congenital malformation rates, and premature rupture of the membranes (PROM). Multiple logistic regression was used to establish relationships between RIF and adverse perinatal outcomes after adjusting for relevant baseline demographics and cycle characteristics.Result(s)The RIF group showed a preferred transfer of two embryos and cleavage embryos compared with the control group (P <0.05). Regarding perinatal outcomes in singleton deliveries, women with RIF had increased rates of LBW (adjusted odds ratio [aOR] 2.027; 95% confidence interval [CI], 1.025–4.009), PTB (aOR 1.785; 95% CI, 1.050–3.036), and PROM (aOR 2.259; 95% CI, 1.142–4.467). The incidence of congenital malformations was similar between the two groups (4.1% vs. 2.4%; P = 0.759). Furthermore, multiple intrauterine procedures were associated with a statistically significant increased risk of PROM in RIF patients (aOR 1.537; 95% CI, 1.105–2.137).ConclusionsWomen with a history of RIF were associated with an increased risk of LBW, PTB, and PROM in singleton live births after FET cycles. In addition, multiple intrauterine procedures were independent risk factors for PROM.

Does Testicular Sperm Alter Reproductive and Perinatal Outcomes in Assisted Reproductive Technology Cycles? 10 Years' Experience in an Indian Clinic.

Intra-Cytoplasmic Sperm Injection (ICSI) has revolutionized the reproductive outcomes for couples with male factor infertility. Especially in azoospermic men, use of ICSI with surgically retrieved testicular sperm has helped them have their own biological child. However, considering the immature nature of testicular sperm safety of testicular sperm has been debated. To compare reproductive outcomes, neonatal outcomes and the incidence of congenital malformations in children born after intracytoplasmic sperm injection (ICSI), using different sperm origins. This is a retrospective study in which a total of 989 participants were enrolled. Study group (Testicular Sperm Aspiration (TESA) ICSI group) had 552 couples with female partners aged ≤37 and had self gamete cycles. ICSI cycles with ejaculated sperm (EJS) acted as the control group. All male patients underwent surgical sperm retrieval and all the women underwent controlled ovarian stimulation and transvaginal oocyte retrieval and Ovum Pick Up (OPU) as per the standard operating procedures of the clinic. Frozen embryo transfer with two good-grade blastocysts, which had shown 100% survival, were transferred in subsequent cycles. The Student's t-test was performed for age distribution; odds ratio was performed to find the confounding factors. Embryonic and reproductive outcomes were comparable and not statistically significant in the study and control groups. Incidence of congenital anomalies was observed in singleton live births and twin live births in both the TESA-ICSI group and the EJS-ICSI group, but the difference was not statistically significant. Our study revealed that congenital malformations in children born out of ICSI using testicular sperm and EJS were similar; no difference was observed in miscarriages between the testicular sperm-ICSI and EJS-ICSI group. Our data suggests that surgical sperm retrieval in couples with male factor infertility does not alter their reproductive outcome.

Congenital malformation and hemoglobin A1c in the first trimester among Japanese women with pregestational diabetes.

To investigate the incidence of major congenital malformations in Japanese women with pregestational diabetes, and to determine the cutoff value of hemoglobin A1c (HbA1c) in the first trimester associated with congenital malformations. This retrospective cohort study included singleton pregnancies in Japanese women with pregestational diabetes, including type 1 and type 2 diabetes, and specific types of diabetes due to other causes. The primary outcome was the incidence of major congenital malformations. The secondary outcome was the incidence of all congenital malformations. The cutoff value of HbA1c for congenital malformations was calculated using receiver operating characteristic curve analysis. The adjusted odds ratios (aOR) of major congenital malformations were calculated using multiple logistic regression analyses. This study enrolled 292 patients, including 132 (45.2%) with type 1 diabetes, 156 (53.4%) with type 2 diabetes, and 4 (1.4%) with other specific types. The incidence rates of major congenital malformations and all congenital malformations were 7.2% (21/292) and 12.7% (37/292), respectively. The cutoff value of HbA1c in the first trimester for major malformations and for all congenital malformations was 6.5%. HbA1c ≥ 6.5% was significantly associated with major malformations (aOR 3.5; 95% confidence interval: 1.2-12.6; p=0.018). The incidence of major congenital malformations significantly increased in pregnant Japanese women with HbA1c values of 6.5% or higher. The recommended HbA1c value during the first trimester used in other countries can be applied to pregnant Japanese women.

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.

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.

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.

Cardiovascular risks in infants born with reproductive technologies

Russia is on the second place among European countries in the number of completed cycles of assisted reproductive technologies (ART). The proportion of children conceived using ART becomes annually higher. The present review summarises data on the impact of new reproductive technologies on the risk of developing cardiovascular diseases are presented. Potential health risks in the introduction of ART in babies born are discussed in numerous studies, the impact on all stages of embryo- and organogenesis is noted. The greatest problem is a possible increase in the incidence of congenital malformations (CM) in children after ART compared to the latter in the natural population. The frequency of CM is due not only to the use of APT, but also to factors such as genetic characteristics, age and state of health of the mother, aggravated obstetric-gynecological history, multiplicity, low birth weight of the fetus. In children conceived with ART, often appear early symptoms of systemic endothelial dysfunction, metabolic disorders (lipid metabolism, glucose level), congenital heart defects (interventricular septum defect, small cardiac development abnormality (false chord), open arterial duct, open oval window). There is a need to improve prenatal diagnostics of CM in early pregnancy and regular medical examinations of children conceived with ART.

Pattern of malformations in central nervous system and its association with other congenital anomalies in perinates

Introduction: The congenital malformations of the central nervous system is one of the leading causes of perinatal mortality in this region of the country. It may present as an isolated defect or may be associated with other organ system malformations. Aims and Objectives: Aim of the present study was to find out the pattern of congenital malformations in the central nervous system both in live and still born perinates. Our main objective was to ascertain its association with other organ systems most commonly involved. Materials and Methods: The prospective study was carried out on 76 perinates having congenital anomalies out of 15,970 births (15,614 live born and 356 stillborn) ranging from 28th weeks of gestation to 7 days after birth. Twenty, out of 76 were born with central nervous system malformations. Results and Observations: The congenital malformations of central nervous system were found to be 26.31%. Anencephaly was the most common malformation (50%) observed amongst the central nervous system in the study with a female preponderance 1.5:1, followed by spina bifida with meningomyelocele (35%), hydrocephalus (10%) and holoprosencephaly (5%). Anencephaly was associated with occipital meningoencephalocele in 10% cases. Conclusion: Anencephaly is the most common malformations in the study, followed by spina bifida and meningomyelocele. The other malformations found in the central nervous system are hydrocephalus, meningoencephalocele and holoprosencephaly. The incidence of congenital malformations in present study is comparatively lower than in other parts of India and abroad. Keywords: Congenital malformation, Perinates, Anencephaly, Spina bifida, Meningomyelocele.

Study of clinical profile and associated risk factors for congenital malformations in neonates: a hospital based prospective study

Background: Congenital malformations are major cause of neonatal morbidity and mortality and account for 8-10% of all peri-natal deaths especially in developing countries. Incidence of congenital malformation is increasing owing to reduction in other causes of neonatal deaths due to improvement in perinatal care worldwide. This study was aimed to evaluate the incidence, perinatal variables and contributing risk factors associated with birth defects that will help to plan future strategies for prevention, early diagnosis and timely management. Methods: This is a hospital-based prospective observational study conducted in department of pediatrics of a tertiary care centre of western India over period of two year. All new-borns with anatomical congenital malformations detected antenatal or postnatal (prior to discharge) period were included in this study. Detailed and careful clinical examination was carried out for all new-born.Results: The incidence of congenital malformation in the present study is 1.27%. Prematurity (76.1%), low birth weight (68%) and male neonates (67%) were associated with increased risk of congenital malformation. Most common system involved in this study was cranio-spinal system (47.3%). Overall, most common congenital anomaly was Hydrocephalus with meningomyelocele (8%). Among maternal variables, malnutrition (90%), consanguinity (40%) and abortions (40%) are strongly associated with malformations. Conclusions: Congenital malformations are important cause of neonatal death. Strategies to diagnose, prevent, treat and rehabilitate the neonate are utmost necessary. Early screening to identify high risk pregnancies and timely management is strongly recommended.

A Five Years Study of Occurrence and Associated Risk Factors for Birth Defects in a Tertiary Care Hospital in Central Nepal

Introduction: Congenital anomalies account for 7.0% of neonatal deaths in Nepal. The present study was carried out to determine the overall rate of congenital malformations, incidence and prevalence in live births, still birth and incidence affecting various organ systems, at Bharatpur Hospital, Nepal.&#x0D; Methods: All the intramural deliveries between Jan 2015 to Dec 2019 were included in the study. All the newborns were looked for congenital malformations after birth within seven days. Antenatal ultrasonography findings were noted. 2D echocardiography was also used for all congenital heart diseases, along with routine X-ray chest. A total of 131 babies with congenital problem were studied and the information was recorded in WHO NBBD Proforma. Data were recorded in MS Excel and SPSS 16 version was used for analysis. &#x0D; Results: Out of the total 60160 deliveries, 131 (0.21% of total birth) were with congenital malformations, sex wise distribution was 65 (49.5%) females and 63 (48.7%) males and three (1.8%) were ambiguous. Oro-facial malformation (49, 37.4%) was the commonest form of malformation followed by the musculoskeletal system (31, 23.6 %), centre nervous system (31, 23.6%) and congenital malformations of genital organs (8, 6.0%). &#x0D; Conclusions: The incidence of congenital malformation in this study was 0.21%. Females were more common than males and oro-facial malformation was the commonest type of malformation. Lack of antenatal visit, lack of folic acid during pre-conception period and low socioeconomic status were the commonest risk factors.