Neonatal Malformations Research Articles

Vitamin A deficiency disturbs Ret expression and induces urinary tract developmental abnormalities in mice.

Moderate vitamin A levels during pregnancy are strongly related to normal embryonic development in both animal models and population studies. Abnormal development of urinary tract system is linked to either an excess or a shortage of vitamin A. The relationships among maternal vitamin A deficiency prior to conception, moderate vitamin A supplementation during pregnancy, and abnormal urinary system development in offspring are unclear. By creating preconception and preconception + pregnancy vitamin A insufficiency mouse models, we investigated whether moderate vitamin A treatment during pregnancy may reduce the prevalence of CAKUT and increase distant vitamin A levels in offspring, as well as any potential pathways involved. We effectively established a prepregnancy vitamin A-deficient mouse model by providing a particular diet with or without vitamin A for four weeks. The offspring of the hypovitaminosis A model group presented a greater proportion of neonatal urinary tract developmental malformations. Abnormalities in ureteral bud emergence and key molecules during renal development, such as p-Plcγ and Ret, may be the primary causes of offspring development of CAKUT as a result of mothers' hypovitaminosis A. Normal vitamin A diets, on the other hand, may help mitigate the teratogenic consequences of prepregnancy hypovitaminosis A, as well as defects produced by ureteral budding and major molecular changes. In contrast, the administration of normal vitamin A feeds during pregnancy may ameliorate the teratogenic effects of prepregnancy hypovitaminosis A to a certain extent and may also ameliorate the abnormalities associated with ureteral budding and key molecular changes.

Vein of galen malformations: for patients and caregivers.

Vein of Galen malformations (VOGMs), also known as Vein of Galen Aneurysmal Malformations (VGAMs), are rare and complex cerebrovascular anomalies that pose significant diagnostic and therapeutic challenges. These malformations result from abnormal arteriovenous shunts during embryonic development, leading to a range of severe clinical manifestations, including high-output cardiac failure and hydrocephalus. Advances in prenatal imaging, particularly fetal MRI, have improved early detection, allowing for timely intervention. Endovascular techniques, especially transarterial embolization, have become the primary treatment modality, often preferred over surgical approaches due to their effectiveness and lower risk. However, challenges remain, particularly in managing these malformations in neonates and infants, where the risk of complications is high. Gamma Knife radiosurgery offers a non-invasive alternative for select cases, though its effects are gradual and may carry delayed risks. Despite advancements, the management of VOGMs continues to require a multidisciplinary approach, with ongoing research focused on improving outcomes through a better understanding of the genetic and molecular underpinnings of the disease. Future directions include the integration of genetic studies into clinical practice and the refinement of treatment strategies to optimize outcomes for this complex condition.

Perinatal outcomes with a copper intrauterine device in situ after 28 gestational weeks: A retrospective study of sole center in southeast China.

The purpose of this study was to investigate the pregnancy outcomes with a copper intrauterine device (IUD) in situ after 28 gestational weeks and the association between pregnancy with copper IUDs and neonatal congenital malformations. This retrospective study had compared the singleton pregnancies with the copper IUDs in situ and without after 28 gestational weeks in 1 delivery center of southeast China. The main exposure was a copper IUD in uterine cavity with pregnancy. The pregnant outcomes as preterm birth, premature rupture of membranes, infections were observed and compared. We had also compared neonatal congenital malformations in 2 groups. The statistical analysis was carried out using R (version 4.0.4; R Development Core Team) statistical software. Association between IUD use or duration of IUD use and adverse pregnancy outcomes were estimated using logistic model. Two-tailed P value < .05 was deemed statistically significant. A total of 148 pregnant women were included in our study, 74 with copper IUDs in situ were categorized into case group and 74 without IUDs during pregnancy into control group. No significant difference of maternal age, BMI, birth weight and gender were observed between 2 groups. In case group, the rates of preterm premature rupture of membranes (37.8%) and spontaneous preterm birth (23.0%) were significantly high compared to control group. Odds ratios of premature rupture of membranes and spontaneous preterm birth were 2.86 and 5.22 respectively. Women of elder age (≥35 years) in case group were more likely to experience premature rupture of membranes. The rates of neonatal congenital malformation were 10.8% (8/74) in case group and 1.4% (1/74) in control group respectively. We had found that pregnancy with copper IUD in situ increased the risk of premature rupture of membranes and spontaneous preterm birth after 28 gestation weeks, the risk of spontaneous preterm birth increased 5.22 times. Pregnancy with IUD in situ may be at increased risk of infection and neonatal malformation.

Prepyloric gastric antral muscular ring in an infant.

We present a unique case of a prepyloric gastric muscular ring, a pathology distinct from a gastric web. There is scarcity of literature on this topic, nearly all cases of prepyloric antral rings or webs published in literature are mucosal or submucosal in nature with no evidence of muscle hypertrophy. Given the prevalence of pyloric stenosis as the most common gastric outlet malformation in neonates, gastric rings and webs are not readily considered in the differential diagnosis of gastric outlet obstruction. While most cases of gastric outlet obstruction are diagnosed radiologically, less common pathologies will be confirmed with direct visual inspection during surgery. The term "congenital gastric outlet obstruction" has been used to encompass rare cases, making it appropriate to include a muscular ring in this category. We propose the term "gastric ring" be used with a semantic modifier of "muscular" versus "submucosal/mucosal" to avoid confusion.

Cerebral Malformations Related to Coronavirus Disease 2019 during Pregnancy

AbstractThe pandemic of severe-acute-respiratory-syndrome-related coronavirus (SARS-Cov-2) has shown a wide spectrum of possible consequences in children, ranging from asymptomatic patients to the development of severe conditions, such as multisystem inflammatory syndrome in children and encephalopathies related to cytokine storm. Specifically, neurological and neuroimaging abnormalities, ranging from mild-to-the severe ones, have been documented in children as well, such as postinfectious immune-mediated acute disseminated encephalomyelitis, myelitis, neural enhancement, cranial nerve enhancement, and cortical injury, also without neurological symptoms. Considering the neurotropism of coronaviruses and SARS-Cov-2, which has been well described in the literature, we reviewed the literature reporting possible cerebral malformation in neonates due to the infection of SARS-Cov-2 in pregnancy. Coronavirus disease 2019 (COVID-19) during pregnancy might develop cerebral disorders in several ways. Articles in English in the literature were screened using the following search terms: (1) “brain malformations” AND “COVID-19”; (2) “cerebral malformations” AND “COVID-19”; (3) brain malformations AND “Sars-Cov-2”; (4) “cerebral malformations “AND “Sars-Cov-2.” Considering the congenital brain malformation found in newborns exposed to infection of SARS-Cov-2 pre- or neonatally, we identified one paper which reported three neonates with cerebral malformation. Although sporadic, cerebral malformations like atypical signals in white matter with delayed myelination, brain dysplasia/hypoplasia with delayed myelination, and unusual signals in the periventricular regions have been documented.

Frequency of major congenital malformations in neonates born in three tertiary care hospitals of Pakistan.

Objective: To assess the frequency of major congenital anomalies in newborns delivered in three different hospitals of Pakistan. Study Design: Cross Sectional study. Setting: Department of Pediatrics Hameed Latif Teaching Hospital, Lahore, Ittefaq Hospital Lahore and HITEC-IMS Taxilla. Period: Jan 2023 to November 2023. Methods: 205 neonates who met the inclusion criteria were included in the study from labour room of Hameed Latif Teaching Hospital Lahore, Ittefaq Hospital Lahore and HITEC-IMS Taxilla. Informed consent was obtained from parents. Demographic variables (name of mother, gender, birthweight and gestational age at birth) were recorded. Then neonates were admitted in NICU and evaluated for presence of congenital malformations including cardiovascular system defects, limbs anomalies, genitourinary system, central nervous system and chromosomal anomalies. All data was entered in specially designed performa. Results: We found that overall gestational age was greater than 32 weeks with mean age of 37.190±2.00 weeks. Mean birth weight was 2.938±0.31 Kg. Frequency and %age of patients according to gender was 60% males and 40% females. Major congenital malformation was seen in 2.9% patients. Among infants with major congenital malformations, cardiovascular system defects were seen in 33.3% infants, limb anomalies 16.7%, genitourinary system 16.7% and central nervous system defects were 33.3%. Parents of 67.7% of cases were cousins. It was observed that only 32.3% of the mothers had taken the recommended daily dose of folic acid in antenatal period. Conclusion: Central nervous system and cardiovascular system defects were the most prominent anomalies detected. Prenatal diagnosis may be helpful in decreasing mortality by offering early termination.

Pregnancy outcomes in Chinese women with mechanical heart valves receiving warfarin treatment throughout pregnancy: 14-year experience

ObjectiveThe purpose was to evaluate pregnancy outcomes and risk factors associated with fetal complications in Chinese pregnant women with mechanical heart valves (MHVs) taking low-dose warfarin, aiming to fill in the research gap of this area. MethodsBetween June 2010 and Aug 2023, 122 patients with MHVs who had 151 pregnancies and received warfarin throughout pregnancy were included. We compared them with 302 paired pregnancies without warfarin treatment. Binary logistic regression analyses were performed to explore risk predictors of fetal complications. ResultsPregnancy loss rate was 37.1 % in women taking warfarin, compared to only 4.6 % for those without warfarin exposure in pregnancy (RR = 8.00, 95 % CI: 4.61–13.90). In pregnant women with MHVs, there were 34 spontaneous abortions, 22 stillbirths and 1 neonatal malformation. In the first, second and third pregnant trimesters of women with MHVs, fetal complication incidences were 19.2 %, 9.9 % and 8.0 %, respectively. 86.0 % of fetal complications occurred in women taking a warfarin dose ≤5 mg/d, accounting for 94.0 % of the total population. The newborns' birth weight, gestational age and 1-minute Apgar score were significantly lower in pregnancies treated with warfarin compared to those without warfarin exposure. Only 2.0 % of postpartum hemorrhage and no thrombosis or maternal mortality data were collected in pregnant women on warfarin in this study. ConclusionMost Chinese pregnant women take a warfarin daily dose ≤5 mg and they might have only around 60 % chance of giving birth to a live baby without maternal complications.

Correlation between essential and toxic elements in maternal blood during early pregnancy and atrial septal defects/ventricular septal defects/patent ductus arteriosus in offspring.

Congenital heart defects (CHDs) are the most common congenital malformation in the world. Recent studies have found that essential and toxic trace element levels may play a crucial role in the risk of neonatal malformation. However, the relationships between element levels in early pregnancy and CHD risk among humans remain unclear. This study investigates the association between maternal essential element (copper [Cu], zinc [Zn], calcium [Ca], manganese [Mg] and iron [Fe]) and toxic element (lead [Pb] and cadmium [Cd]) levels during early pregnancy and CHDs. A hospital-based case-control study was conducted, including 181 cases and 218 controls. Eligible participants underwent antenatal examination during gestational weeks 11-14 and trace element levels were detected by the atomic absorption method. Multi-variable logistic regression was used to examine the associations between the level of maternal trace elements and CHD risks. Higher levels of Ca in early pregnancy were associated with lower risk of ASD/VSD risks. Moreover, higher Fe, Pb, and Cd levels in the first trimester were associated with higher risks of all CHD and the subtypes risks, and the tests for trend were significant (all p < .05). The restricted cubic spline analysis showed that there was a nonlinear inverted u-shaped dose-response relationship between levels of Zn, Pb, and Cd in the first trimester and risk of CHDs (non-linearity test p < .05). A moderate increase in Zn and Ca levels and a decrease in Pb and Cd levels during early pregnancy are needed to reduce the incidence of CHDs in the Chinese population.

Beyond extubation: Continuous positive airway pressure for congenital pulmonary airway malformation in neonates

Beyond extubation: Continuous positive airway pressure for congenital pulmonary airway malformation in neonates

Analysis of Down syndrome newborn outcomes in three neonatal intensive care units in Rio de Janeiro, Brazil.

The aim of this study was to analyze the outcomes of newborns with Down syndrome admitted to three neonatal intensive care units in the city of Rio de Janeiro, Brazil. A retrospective cohort study was conducted by analyzing the medical records between 2014 and 2018 of newborns with Down syndrome admitted to three neonatal intensive care units. The following variables were analyzed: maternal and perinatal data, neonatal malformations, neonatal intensive care unit intercurrences, and outcomes. A total of 119 newborns with Down syndrome were recruited, and 112 were selected for analysis. The most common maternal age group was >35 years (72.07%), the most common type of delivery was cesarean section (83.93%), and the majority of cases were male (53.57%). The most common reasons for neonatal intensive care unit hospitalization were congenital heart disease (57.66%) and prematurity (23.21%). The most common form of feeding was a combination of human milk and formula (83.93%). The second most common malformation was duodenal atresia (9.82%). The most common complications during neonatal intensive care unit hospitalization were transient tachypnea of the newborn (63.39%), hypoglycemia (18.75%), pulmonary hypertension (7.14%), and sepsis (7.14%). The mean length of stay in the neonatal intensive care unit was 27 days. The most common outcome was discharge (82.14%). Furthermore, 12.50% of newborns were transferred to an external neonatal intensive care unit, and 6% died. Newborns with Down syndrome are more likely to be admitted to the neonatal intensive care unit, and the length of hospital stay is longer due to complications related to congenital malformations common to this syndrome and prematurity.

Plant-expressed Zika virus envelope protein elicited protective immunity against the Zika virus in immunocompetent mice

Zika virus infection causes multiple clinical issues, including Guillain–Barré syndrome and neonatal malformation. Vaccination is considered as the only strategy for the prevention of ZIKV-induced clinical issues. This study developed a plant-based recombinant vaccine that transiently expressed the ZIKV envelope protein (ZikaEnv:aghFc) in Nicotiana benthamiana and evaluated the protective immunity afforded by it in immunocompetent mice. ZikaEnv:aghFc induced both humoral and cellular immunity at a low dose (1–5 μg). This immune-inducing potential was enhanced further when adjuvanted CIA09A. In addition, antigen-specific antibodies and neutralizing antibodies were vertically transferred from immunized females to their progeny and afforded both protective immunity to ZIKV and cross-protection to Dengue virus infection. These results suggest that our plant-based ZIKV vaccine provides a safe and efficient protective strategy with a competitive edge.

Mobile Prenatal Education and Its Impact on Reducing Adverse Pregnancy Outcomes: Retrospective Real-World Study.

Pregnancy is a pivotal phase in a woman's life, demanding special attention to ensure maternal and fetal health. Prenatal education plays a vital role in promoting healthy pregnancies and reducing adverse outcomes for pregnant women. Mobile prenatal education programs have gained traction due to their accessibility and timeliness, especially in light of finite health care resources and the constraints imposed by the COVID-19 pandemic. This study aims to develop and evaluate the effectiveness of a mobile-based prenatal education program in improving pregnancy outcomes. We developed a mobile-based prenatal education curriculum in collaboration with a multidisciplinary maternal care team from Peking Union Medical College Hospital (PUMCH) in Beijing, China. Data were retrospectively collected from 1941 pregnant women who had registered for the PUMCH mobile prenatal education program and subsequently delivered at PUMCH between May 2021 and August 2022. The study compared pregnancy outcomes between the completing group, which were pregnant women who had completed at least 1 course, and the noncompleting group. We also analyzed differences among course topics within the completing group and assessed course topic popularity among pregnant women. The PUMCH mobile prenatal education curriculum consists of 436 courses across 9 topics. Out of the participants, a total of 1521 did not complete any courses, while 420 completed at least 1 course. Compared with the noncompleting group, pregnant women who completed courses exhibited a significant reduction in the risk of gestational diabetes mellitus, induced abortion, postpartum infection, fetal intrauterine distress, and neonatal malformation. Among those in the completing group, a total of 86% (361/420) started course completion during the first and second trimesters. Furthermore, completing courses related to topics of pregnancy psychology and pregnancy nutrition was associated with reduced risks of premature rupture of membranes and small for gestational age infants, respectively. Pregnancy psychology and postpartum recovery were the preferred topics among pregnant women. The study demonstrates the potential of mobile-based prenatal education programs in improving pregnancy outcomes and supporting health care providers in delivering effective prenatal education. The rise of mobile prenatal education presents an opportunity to improve maternal and child health outcomes. Further research and broader implementation of such programs are warranted to continually improve maternal and child health.

Characteristics and Outcome of Neonates With Postnatally Diagnosed Congenital Diaphragmatic Hernia

Congenital diaphragmatic hernia (CDH) is one of the most severe neonatal malformations with a mortality of 20-35%. Currently, the rate of prenatally recognized CDHs is 60-80%. This study investigated the characteristics and outcome data of children with prenatally unrecognized CDH. Postnatally diagnosed CDH newborns treated at the University Hospital Bonn between 2012 and 2021 were included. Treatment and outcome data were compared according to type of maternity hospital, Apgar values, and between prenatally and postnatally diagnosed CDH. Of 244 CDH newborns, 22 were included. Comparison for birth in a facility with vs. without pediatric care showed for mortality: 9% vs. 27%, p=0.478; ECMO rate: 9% vs. 36%, p=0.300; age at diagnosis: 84 vs. 129 min, p=0.049; time between intubation and diagnosis: 20 vs. 86 min, p=0.019. Newborns in the second group showed significantly worse values for pH and pCO2. Furthermore, there was a tendency for higher mortality and ECMO rates in children with an Apgar score<7 vs.≥7. Children diagnosed postnatally were significantly more likely to have moderate or severe PH and tended to have cardiac dysfunction more often than those diagnosed prenatally. In our cohort, ca. one in 10 newborns received a postnatal CDH diagnosis. Birth in a facility without pediatric care is associated with later diagnosis, which may favor hypercapnia/acidosis and more severe pulm.

Risk for fetal malformations and unfavorable neonatal outcomes in early-onset gestational diabetes mellitus.

Early-onset gestational diabetes mellitus (GDM) is diagnosed before the 24th gestational week. Since early GDM is associated with first trimester hyperglycemia, many clinicians treat these women as having pre-GDM. However, whether early GDM increases the risk for unfavorable pregnancy outcomes and particularly for fetal malformations to a greater extent than late-onset GDM were not studied sufficiently. We aimed to examine the effect of early-onset GDM on unfavorable pregnancy outcomes. A retrospective cohort study of women with GDM delivering singletons during 2005-2018 was conducted. Women were divided into GDM diagnosed at the first (Trimester1; up to 13.6weeks; N = 117), the second (Trimester2; up to 23.6weeks; N = 126), and the third trimester (Trimester3; N = 2334). The primary outcomes were neonatal malformations and a composite of large-for-age newborns, hypoglycemia and hyperbilirubinemia treated with phototherapy. Comparisons were made between early- (Trimester1 + Trimester2-groups) and late-onset GDM (Trimester3-group), and between the three trimesters. Fetal malformations were low and comparable between the trimester1, trimester2, trimester3 groups (2 (1.7%), 3 (2.4%), and 110 (4.7%), respectively).The composite neonatal complications was similar between the groups (68 (58%), 58 (46%), and 1087 (47%), respectively). In early-onset, the rates of neonatal hypoglycemia and shoulder dystocia were higher than in the late-onset GDM group (OR 95% CI 3.5 [2.0-6.1] and 10.3 [2.4-44.6], respectively). Macrosomia was higher in trimester1 compared with trimester2 and trimester3 cohorts (OR 95% CI 5.3 [1.7-16.9] and 2.8 [1.5-5.2], respectively). The risk for fetal malformations was low and comparable between the first, second and third trimester GDM. Since the risks for macrosomia, shoulder dystocia, and neonatal hypoglycemia are higher in early-onset GDM, these women should undergo strict glycemic control, intensive monitoring, and careful neonatal evaluation.

Perinatal Prognosis of Pregnancies with Single Umbilical Artery in a Romanian Third-Level Unit.

Objectives: Single umbilical artery (SUA) is considered the most common abnormality of the umbilical artery. The objective of the study was to evaluate the perinatal prognosis of fetuses with SUA and to describe the associated malformations. The significance of the study is represented by examining whether our findings are in correlation with data already described.Methods: We performed a prospective cohort study on singleton pregnancies complicated with SUA. The study population was composed of women with singleton pregnancies who were examined at the Department of Obstetrics and Gynecology of the Târgu Mures County Emergency Clinical Hospital between 2012 and 2021.Results: The incidence of SUA in the study population was 0.48%. C-section was performed in 40 cases with SUA and in 5258 cases with no SUA (RR:1.56, P<0.05.) From the total number of 2249 premature deliveries, 23 newborns were diagnosed with SUA (RR:2.12, P<0.05.) From the total number of 869 deliveries with low birth weight (LBW) newborns, 13 were associated with SUA (RR: 3.12, P<0.05.) There were 206 pregnancies noted with antenatal fetal demise after 24 weeks of gestation, and only 2 of them were with SUA (RR:2.01, P>0.05.) Fetal and neonatal malformations were described in 290 cases, and 28 were associated with SUA (R:21.96, P<0.05.) In 57 of 85 cases (67.05%), we found iSUA, and 28 newborns (32.95%) had minor, major, or other associated pathologies. We found two cases of trisomy 18 and one case with trisomy 13 associated with SUA. Investigating the malformations associated with SUA, the most common were cardiac and great vessels malformations (12), followed by limb malformations (8), urogenital malformations (7), digestive tract malformations (7), central nervous system malformations (4), and in one case we found cleft palate.Conclusions: Perinatal prognosis regarding SUA is significantly poorer than in cases without this pathology. One-third of fetuses with SUA were associated with fetal anomalies. The most common pathologies associated with SUA were cardiovascular, limb, urogenital, and digestive system malformations. Our data are similar to those described in other studies; therefore, we conclude, we can implement the general recommendations in our region regarding counselling patients.

Does COVID-19 Infection during Pregnancy Increase the Appearance of Congenital Gastrointestinal Malformations in Neonates?

COVID-19 was an infection that was capable of bringing the entire world to a standstill position within a period of days to months. Despite the advancements in the medical sector, the contagion was difficult to control and costed the lives of millions of people worldwide. Many short- and long-term effects are witnessed even to date in people that contracted the disease. Pregnant females had to suffer not only the devastating effects of the virus, but also the psycho-social impact of the lockdown. The impact of COVID-19 infection during pregnancy causing decreased antenatal care or hypoxemic episodes due to severe respiratory distress and whether it could lead to the appearance of congenital gastrointestinal malformation in neonates is still unclear. The aim of our study was to analyze if COVID-19 infection during pregnancy could increase the incidence of gastric malformations in neonates born from these women. We sifted the files of all neonates admitted into our hospital between January 2022 and December 2022, and based on inclusion and exclusion criteria, we included the cases having gastrointestinal congenital malformations during the COVID-19 pandemic. We performed a single-center, retrospective, observational descriptive study. We further divided the patients based on the anatomical location of the malformation. We also took down details of the evolution of pregnancy and whether the mother had contracted a SARS-CoV-2 infection during the pregnancy. Details regarding the Apgar score, days of intensive care admission, sex, and nutrition were the key findings studied. A total of 47 neonates were found to have digestive anomalies, among which, based on the anatomical locations, the number of malformation cases found at the level of the esophagus were 15, while 16 occurred at the level of the pylorus; we found 12 cases of malformation of the duodenum, and four cases had malformation of the rectum. Out of these 47 neonates, 38.3% were females and 61.7% were males. A total of 58% were preemies, among which 9% had intra-uterine growth retardation (IUGR), and 42% were full-term newborns, among which 4% had intra-uterine growth retardation (IUGR). A total of 45% of the births were primiparous pregnancies and 55% were from multiparous females. A total of 14 mothers were found to have tested positive for COVID-19 during the course of pregnancy (p-value = 0.23); many had mild symptoms but were not tested. COVID-19 can affect the wellbeing of the pregnant female and their fetus. Larger studies can help gain extensive knowledge as to whether COVID-19 also has the potential to result in congenital gastrointestinal anomalies in children born from COVID-19 positive mothers. In our study, only a few infants born with this pathology were found to be born from COVID-19 positive mothers. Hence, it is difficult to conclude or exclude a direct correlation between the infection and the congenital malformations.

Exploring the efficacy and beneficial population of preimplantation genetic testing for aneuploidy start from the oocyte retrieval cycle: a real-world study

BackgroundPreimplantation genetic testing for aneuploidy (PGT-A) is widely used as an embryo selection technique in in vitro fertilization (IVF), but its effectiveness and potential beneficiary populations are unclear.MethodsThis retrospective cohort study included patients who underwent their first oocyte retrieval cycles at CITIC-Xiangya between January 2016 and November 2019, and the associated fresh and thawed embryo transfer cycles up to November 30, 2020. PGT-A (PGT-A group) and intracytoplasmic sperm injection (ICSI)/IVF (non-PGT-A group) cycles were included. The numbers of oocytes and embryos obtained were unrestricted. In total, 60,580 patients were enrolled, and baseline data were matched between groups using 1:3 propensity score matching. Sensitivity analyses, including propensity score stratification and traditional multivariate logistic regression, were performed on the original unmatched cohort to check the robustness of the overall results. Analyses were stratified by age, body mass index, ovarian reserve/responsiveness, and potential indications to explore benefits in subgroups. The primary outcome was cumulative live birth rate (CLBR). The other outcomes included live birth rate (LBR), pregnancy loss rate, clinical pregnancy rate, pregnancy complications, low birth weight rate, and neonatal malformation rate.ResultsIn total, 4195 PGT-A users were matched with 10,140 non-PGT-A users. A significant reduction in CLBR was observed in women using PGT-A (27.5% vs. 31.1%; odds ratio (OR) = 0.84, 95% confidence interval (CI) 0.78–0.91; P < 0.001). However, women using PGT-A had higher first-transfer pregnancy (63.9% vs. 46.9%; OR = 2.01, 95% CI 1.81–2.23; P < 0.001) and LBR (52.6% vs. 34.2%, OR = 2.13, 95% CI 1.92–2.36; P < 0.001) rates and lower rates of early miscarriage (12.8% vs. 20.2%; OR = 0.58, 95% CI 0.48–0.70; P < 0.001), preterm birth (8.6% vs 17.3%; P < 0.001), and low birth weight (4.9% vs. 19.3%; P < 0.001). Moreover, subgroup analyses revealed that women aged ≥ 38 years, diagnosed with recurrent pregnancy loss or intrauterine adhesions benefited from PGT-A, with a significant increase in first-transfer LBR without a decrease in CLBR.ConclusionPGT-A does not increase and decrease CLBR per oocyte retrieval cycle; nonetheless, it is effective in infertile populations with specific indications. PGT-A reduces complications associated with multiple gestations.

Direct Transverse Sinus Puncture for Transvenous Coil Embolization of Vein of Galen Malformations: Innovating Existing Techniques.

Vein of Galen malformations (VOGMs) are complex arteriovenous malformations in neonates and young children. Recent advances in endovascular interventions have drastically improved treatment and clinical outcomes in what was previously high-morbidity, high-mortality disease. The high-flow shunt pathophysiology in VOGMs can lead to dynamic changes in the malformation angioarchitecture, and over time patients can develop jugular bulb stenosis. In the setting of inaccessible transvenous access to the malformation for endovascular embolization in cases where transarterial embolization is inadequate, a combined surgical and endovascular technique must be used. We present the first successful modern-day application of direct puncture through transverse sinus for transvenous embolization of a VOGM. We present 2 unique cases of complex VOGM malformations in patients who had previously undergone staged endovascular embolization for reduction of flow within the malformation. On follow-up, in both cases, there was development of severe sigmoid sinus and jugular bulb stenosis, increasing intracranial venous congestion and causing marked clinical deterioration. The stenosis prevented traditional transvenous access and treatment. We describe a direct puncture transverse sinus access using a burr hole approach for endovascular transvenous embolization in both cases with successful clinical outcomes. Direct access using burr hole craniotomy to the transverse sinus for transvenous endovascular embolization is a safe approach in the setting of severe jugular bulb stenosis for treatment of VOGMs. This technique can be done efficiently to achieve complete flow elimination in the malformation, in cases where that is called for, without significant risks or complications related to the approach.

Outcomes and Associated Extracardiac Malformations in Neonates from Colombia with Severe Congenital Heart Disease.

Congenital heart disease (CHD) is a common structural anomaly, affecting ~ 1% of live births worldwide. Advancements in medical and surgical management have significantly improved survival for children with CHD, however, extracardiac malformations (ECM) continue to be a significant cause of morbidity and mortality. Despite clinical significance, there is limited literature available on ECM in neonates with CHD, especially from Latin America. A cross-sectional study of neonates with severe CHD evaluated by the medical-surgical board team at Fundación Cardiovascular de Colombia from 2014 to 2019 was completed to characterize morbidity, mortality, surgical outcomes, and ECM. Demographics and surgical outcomes were compared between neonates with and without ECM. Medical record data were abstracted and descriptive statistical analysis was performed. Of 378 neonates with CHD, 262 had isolated CHD (69.3%) and 116 had ECM (30.7%). The most common ECM was gastrointestinal (n = 18, 15.5%) followed by central nervous system (n = 14, 12%). Most neonates required a biventricular surgical approach (n = 220, 58.2%). Genetic testing was performed more often for neonates with ECM (n = 65, 56%) than neonates with isolated CHD (n = 14, 5.3%). Neonates with ECM had lower birth weight, longer hospital stays, and higher postsurgical complications rates. There was no difference in survival between groups. Overall, Screening for ECM in neonates with CHD is important and identification of ECM can guide clinical decision-making. These findings have important implications for pediatric healthcare providers, especially in low- and middle-income countries, where the burden of CHD is high and resources for managing CHD and extracardiac malformations may be limited.

Early cumulus cell removal increases cumulative live birth rate while having no negative effect on the malformation rate in in vitro fertilization: a propensity score-matched cohort study.

The aim of this study was to investigate the efficacy and safety of early cumulus cell removal (ECCR) during human in vitro fertilization (IVF). A retrospective analysis was performed between January 2011 and December 2019. The study enrolled 1131 couples who underwent IVF treatment with ECCR. After propensity score matching at a 1:1 ratio, 1131 couples who underwent overnight coincubation of gametes were selected. The main outcome measure was the cumulative live birth rate. Secondary outcome measures included the cumulative pregnancy rate, polyspermy rate, available embryo rate, miscarriage rate, malformation rate, time to live birth, and oocyte-to-baby rate. There were no significant differences found between the two groups in the polyspermy rate, available embryo rate, miscarriage rate, time to live birth, oocyte-to-baby rate, and neonatal congenital anomalies rate. The results of the study showed that ECCR was associated with a significantly higher cumulative live birth rate and cumulative pregnancy rate, along with a significantly lower fertilization rate. ECCR tended to confer increased cumulative live birth rate and had no negative effect on the neonatal malformation rate.