Presence Of Congenital Anomalies Research Articles

Maternal palmitic acid intake, palmitic acid levels in maternal blood and cord blood with infant body composition

The fat intake of pregnant mothers, especially palmitic acid, which is one of the main components of palm oil, may affect the weight and fat mass of newborns. This study aimed to analyze the relationship between maternal palmitic acid intake and palmitic acid levels in maternal and cord blood with birth weight and infant fat mass. This study uses secondary data using a cross-sectional design, which is part of the main study of the BSEA and IPB University. The research was conducted from May to October 2018 at the Tanah Sareal Health Center and North Bogor Health Center. A total of 142 pregnant women were selected based on a single pregnancy and Hb level of >9 mg/dL. Exclusion criteria were the presence of congenital abnormalities or undergoing therapy for a particular disease. Data analysis was performed using the Pearson/Spearman correlation test. The results of the study showed no association between maternal palmitic acid intake and birth weight or infant fat mass (p> 0,05). Two approximate significant indicators were palmitic acid level in maternal blood with birth weight (p= 0,089), as well as palmitic acid level in cord blood with infant fat mass (p= 0,053). In conclusion, maternal palmitic acid intake and palmitic acid levels in maternal and cord blood did not affect birth weight or infant fat mass.

Profile of various congenital anomalies in fetus detected during antenatal period among high risk mothers by Ultrasonography at Tertiary Care Centre, South Gujarat

Background: With the improvement of basic maternal and child health care services, the deaths due to malnutrition and infections are on a descending trend and due to westernization and lifestyle modifications, perinatal deaths due to anomalies are in ascending trend. Aim & Objectives: The purpose of this study was to estimate the antenatal proportion of congenital anomalies, types, pattern of anomalies and factors associated with anomalies in Tertiary Care Centre, South Gujarat. Settings and Design: Cross-sectional study in Department of Fetal Medicine of New Civil Hospital, Surat. Methods and Material: Sample size was 435. First 10 consecutive high-risk ANC patients, who were referred to Fetal Medicine department from Obstetrics and Gynecology department per day were selected. Data was collected during September 2021 to February 2022. Statistical analysis used: Frequencies, proportions and tests of significance was applied for testing the association of socio-demographic variables, clinical variables etc on presence or absence of congenital anomalies. Results: Proportion of different types of congenital anomalies in high risk pregnant mother was 17.2%. There was significant association between presence of congenital anomalies with history of irregular menstruation (p value: 0.001, OR: 5.19, [CI: 1.76-15.27]) and inadequate amniotic fluid (p value: 0.00, OR: 14.5[CI: 7.23-29.06]). Among total detected anomalies in Ultrasonography scanning, most common anomalies were Cardio-vascular system anomalies (36.4%) and Central Nervous System anomalies (24%). Conclusions: Congenital anomalies were present in about 17 % of high risk antenatal mothers.

Implementation of an Innovative Palliative Care Screening Tool in the Pediatric Intensive Care Unit: A Pilot Study.

Background: Pediatric palliative care (PPC) can improve the quality of care provided to critically ill children with a high risk of morbidity and mortality. Early identification of patients admitted to the pediatric intensive care unit (PICU) who may benefit from PPC involvement is essential. Objectives: To create a brief screening tool, the Pediatric Intensive Care-Pediatric Palliative Care Screen, identifying PICU patients most likely to benefit from PPC involvement and to assess if weekly screening with this screening tool increases the number of PPC consults placed in the PICU. Methods: This is a prospective investigational single-center study in a 24-bed PICU at a U.S. tertiary care children's hospital. Weekly screening was completed by two clinicians for a six-month period between April and October 2022. Results: A total of 162 screens were completed on 124 individual patients; 47 screens were positive (29%), and 115 were negative (71%). Fourteen new PPC consults were placed from the PICU with one PPC consult for every 36.7 compared with one PPC for every 41.4 admissions the previous year. Of the positive screens, 68% had two or more comorbidities at the time of PICU admission versus 26% of negative screens (p < 0.001). Technology dependence (57% vs. 5%, p < 0.001) and presence of congenital defects (26% vs. 10%, p = 0.013) were significantly more common among positive screens. Conclusions: Weekly screening with a short, 7-question screening tool can identify PICU patients most likely to benefit from a PPC consult. Patients with chronic illnesses and baseline comorbidities are most likely to screen positive.

Maternal first trimester COVID-19 vaccination and risk of major non-genetic congenital anomalies.

Information regarding the risk of early pregnancy COVID-19 vaccination on the development of major congenital anomalies in the offspring is still limited. Here, we study the association between any COVID-19 vaccination during the 1st trimester and at least one major non-genetic congenital anomaly in the offspring. We used data from the Dutch Pregnancy Drug Register, an ongoing cohort study. We selected participants with a pregnancy that ended after at least 20 weeks gestation. Pregnant participants self-reported their COVID-19 vaccination status and the presence of congenital anomalies in the offspring. We used logistic regression analyses to study the association between 1st trimester COVID-19 vaccination (gestational week 2 + 0 to 12 + 6) and the risk of at least one major non-genetic congenital anomaly in the offspring. Clustering of anomalies on the ICD10 level by 1st trimester COVID-19 vaccination status was explored using Fisher exact tests. We included 3721 participants of whom 795 (21.4%) were COVID-19 vaccinated during the 1st trimester. The percentage of participants who gave birth to a child with at least one major non-genetic congenital anomaly was comparable between participants who were 1st trimester vaccinated (1.1%) and participants who were not (1.2%) (adjusted odd ratio 0.78 [95% confidence interval 0.35-1.71]). We found no clustering of major non-genetic congenital anomalies by 1st trimester COVID-19 vaccination status (p > .05). There were no indications of an increased risk of major non-genetic congenital anomalies in the offspring after maternal 1st trimester COVID-19 vaccination. Our findings suggest COVID-19 vaccines are safe during early pregnancy.

Associated factors with adolescent pregnancy in Brazil, 2008-2017

Adolescent pregnancy represents an important public health concern, and may interfere with maternal and child health. This study aims to compare maternal variables and perinatal outcomes of adolescent mothers to young adult mothers, who had live births for Brazil, from 2008 to 2017. It is a cross-sectional study of time series, with data collected from the Live Birth Information System (SINASC). The study covered a total of 5,500,134 live births of adolescent mothers (10 to 19 years old) and 7,674,077 live births of young adult mothers (20 to 24 years old). Data analysis occurred by Pearson Chi-squared test and odds ratio coefficient and respective confidence intervals. The level of significance was set at 5%. Mothers with up to seven years of schooling and without a partner were more likely to be adolescents when compared to young adults. Attending six or fewer prenatal consultations, preterm and postterm gestational age, natural childbirth, low birth weight, Apgar in the first and fifth minutes less than or equal to seven and the presence of congenital anomalies were also more likely to occur in a teenage pregnancy. Public policies must be strengthened with a view to the reproductive care of adolescents.

The burden of psychiatric disorders associated with orofacial cleft pathology among children in Ontario, Canada

Individuals with orofacial cleft (OFC) may be at a higher risk of developing psychiatric disorders (PD) than the general population. We determined the risk of psychiatric diagnoses in children with OFC in Canada. This population-based retrospective cohort study used health administrative data from the province of Ontario, Canada. Children with OFC who were born between April 1, 1994, and March 31, 2017, in Ontario were matched to five non-OFC children based on sex, date of birth, and mother's age. We determined the rate of events and time-to-event for first diagnosis of PD in children aged ≥3 years (y), and for intellectual developmental delay (IDD) from birth. Risk factors for PD and IDD were assessed using 1-way ANOVA for means, Kruskal-Wallis for medians, and the χ2 test for categorical variables. There were 3051 children with OFC (matched to 15,255 controls), of whom 2515 patients with OFC (12,575 controls) had a complete follow-up to the third birthday. Children with OFC were more likely to have PD than controls (54.90 vs. 43.28 per 1000 patient-years, P<.001), with a mean age to first diagnosis of 8.6±4.2y. The cleft palate group had the highest risk (HR 1.33, 95% CI 1.18-1.49). Children with OFC also had a higher risk of IDD than non-OFC children (27.78 vs. 3.46 per 1000 patient-years, p<.001). Children born with OFC in Ontario had a higher risk of psychiatric diagnosis and IDD compared to controls. Further research is also required to better understand the predictors of variation in risk, including geographic location and the presence of congenital abnormalities, and identify potential areas for intervention. Level II.

The Risks of Birth Defects and Childhood Cancer With Conception by Assisted Reproductive Technology

ABSTRACT As the proportion of births conceived with assisted reproductive technology (ART) continues to increase, a growing body of literature continues to examine the risks involved such as the higher risk of birth defects. Recently, several studies have suggested that ART-conceived children may have a greater risk of childhood cancer. This population-based cohort study aimed to evaluate the risk of childhood cancer as a function of birth defect status and method of conception. Data were obtained from the Society for Assisted Reproductive Technology Clinic Outcome Reporting System, birth certificates (2004–2013), birth defect registries, and cancer registries in 4 states. The Society for Assisted Reproductive Technology Clinic Outcome Reporting System contains comprehensive information on ART procedures from 86% of all clinics and more than 92% of all ART cycles in the United States. Assisted reproductive technology cycles reported from January 2004 to December 2017 that resulted in live births were included in this study. For each ART-conceived delivery, the subsequent 10 deliveries were selected as the non-ART comparison group, and siblings of each ART birth were selected as the ART sibling group. The ART group was divided into 4 subgroups based on the combination of oocyte source (autologous or donor) and embryo state (fresh or thawed). A host of independent variables with established associations on birth defects, cancer, and/or ART were selected a priori for inclusion in statistical models. The total study population included 165,125 ART-conceived children, 31,524 non-ART siblings, 12,451 children born as a result of infertility treatment without ART (ovulation induction/intrauterine insemination [OI/IUI]), and 1,353,440 naturally conceived children. A total of 29,571 singleton children (2.0%) and 3753 twin children (3.5%) had a major birth defect. Compared with naturally conceived children, risks for defects were increased for all other groups for nonchromosomal (adjusted odds ratios [AORs] ranged from 1.20 to 1.24, except for donor-fresh), blastogenesis (AORs, 1.22–1.74), cardiovascular (AORs, 1.04–1.26), gastrointestinal (AORs, 1.28–2.01), musculoskeletal (AORs, 1.10–1.48), and genitourinary among male children (AORs, 1.15–1.40, except for donor-fresh). Orofacial defects were increased in the OI/IUI and autologous-fresh and autologous-thawed groups (AORs, 1.26–1.42). The risk of any cancer was increased among ART autologous-fresh and non-ART siblings (hazard ratios [HRs], 1.31 and 1.34, respectively). A total of 127 children had both birth defects and cancer, with 53 (42%) of these children having leukemia. A Cox proportional hazards regression model identified 2 components for the risk of cancer: method of conception and type and number of birth defects. The presence of chromosomal defects was strongly associated with cancer risk (HRs, 8.70 for all cancers and 21.90 for leukemia), and this was further increased in the presence of both chromosomal and nonchromosomal defects (HRs, 21.29 for all cancers, 64.83 for leukemia, and 4.71 for embryonal tumors). The results of this study demonstrate that compared with naturally conceived children a significantly increased risk of nonchromosomal birth defects was found among children conceived with infertility treatment and that the risk of cancer was increased by greater than 30% among non-ART siblings and ART children born from autologous-fresh cycles. Among both naturally conceived and ART-conceived children, the presence of birth defects was associated with a greater risk of cancer.

Pediatric rhegmatogenous retinal detachment: A meta-analysis of clinical features, surgical success rate, and prognostic factors.

Pediatric rhegmatogenous retinal detachment (RRD) is an issue of debate regarding its surgical outcomes and prognosis because of diagnosis delay, more complex etiological factors, and a higher prevalence of postoperative complications. This meta-analysis aims to evaluate the anatomical and visual outcomes of pediatric RRD and the factors that influence the treatment results. This is the first meta-analysis on this subject. We searched the relevant publications in the electronic databases of PubMed, Scopus, and Google Scholar. Eligible studies were included in the analysis. Anatomical success after one surgery and the final rates of success were estimated. Subgroup analysis was performed to find the rate of success in patients with different prognostic factors. This meta-analysis showed that the total rate of success after one surgery was about 64%, which implies that performing the first surgery was enough to get anatomical reattachment in most of the patients. The final anatomical rate of success was about 84%. In terms of visual acuity, the pooled results revealed statistically significant (P < 0.001) improvement in postoperative vision, with a 0.42 reduction in log of minimum angle of resolution (logMAR). The final rate of success was significantly lower in eyes with proliferative vitreoretinopathy (PVR) (about 25% lower in eyes with PVR, P < 0.001) and in the presence of congenital anomalies (about 36% lower in congenital cases, P = 0.008). Myopic RRD had a significantly better anatomical success rate. In conclusion, this study shows that there is a high chance of anatomical success after pediatric RRD treatment. The presence of PVR and congenital anomalies was associated with a poorer prognosis.

Prevalence, distribution, and risk markers for the development of gonadal germ cell tumors in patients with certain types of disorders of sexual differentiation with Y chromosome - A retrospective study.

To study the prevalence, subtypes, and risk markers for the development of gonadal germ cell tumors (GCT's) among disorders of sexual differentiation (DSD) patients with the Y chromosome. Design: A retrospective review of the patient's case records from 2010 to 2020 in Government Medical College, Thiruvananthapuram, India was studied. The study participants included 54 subjects with DSD containing the Y chromosome. Demographic data, external masculinization scoring, associated congenital anomalies, karyotyping, intraoperative findings such as gonadal location and internal genital ducts, histopathology of the resected gonads, and its immunohistochemistry were collected. The prevalence of gonadal GCT's was estimated from paraffin-embedded gonadectomy samples (S = 82). The median age of occurrence of gonadal GCT's was 18 years. The prevalence of malignant gonadal GCT's was highest among the PAIS group (19.2%) followed by gonadal dysgenesis (15.8% each in MGD and CGD) and least among CAIS (7.7%) (p < 0.01). The most common type of malignant gonadal GCT's in the descending order of frequency was dysgerminoma, seminoma, mixed GCT, and yolk sac tumor. Multivariance logistic analysis showed post-puberty and the presence of congenital anomalies were associated with the occurrence of gonadal GCT's ( P < 0.01). The overall prevalence of gonadal GCT's (malignant and premalignant) among DSD with Y chromosomes is nearly 25%. Dysgerminoma is the most common malignant gonadal GCT's. Age at or above 18 years and the presence of congenital anomalies like renal agenesis, retroperitoneal vascular defects, and congenital diaphragmatic hernia were independent risk markers for the development of gonadal GCT's.

Pregnancy Outcomes in Pregnant Patients with COVID-19: A Multicenter Study

Introduction: Acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was declared a pandemic by the World Health Organization (WHO) on March 11, 2020. The presence of COVID-19 in a pregnant patient can raise concerns, as other types of coronaviruses were associated with many adverse outcomes. This study aims to study the effect of COVID-19 on pregnancy outcomes. Methods: A prospective cross-sectional cohort study within Central First Health Care Cluster (multicentric), Riyadh, included all pregnant women with a singleton pregnancy diagnosed as COVID-19-positive. The primary outcome is the severity of COVID during pregnancy in terms of ICU admission and mortality. The participants were divided into three groups (preterm less than 37 weeks, the term from 37 - 40 weeks, and late-term after 40 weeks. In addition, parameters included: Gestational age at diagnosis, symptoms at presentation (cough, fever), presence of congenital anomalies, IUFD, mode of delivery, presence of PPH, newborn Apgar score, cord PH, need for NICU admission, and the newborn becoming infected with COVID-19 were also measured as secondary outcomes. Results: One hundred pregnant, COVID-19-positive women met the inclusion criteria; the average age of participants was 31.2 years (SD ± 6.4). Asymptomatic patients represented 54% of participants. Most of the deliveries occurred at 36 weeks or less as preterm delivery. Cesarean sections represented 55% of our population. Four-term mothers (12.5%), more than 37 weeks, need ICU admission compared to 13 (25%) preterm cases diagnosed with preeclampsia. No maternal death. Conclusion: COVID-19 during pregnancy can increase ICU admission. A high rate of preterm labor, miscarriage, cesarean section, and newborn testing positive for COVID-19 were observed among our population. No congenital anomalies related to COVID-19 were observed.

Five too many! A Case of Incidentally Detected Five Vessel Umbilical Cord Associated with Placental Chorangiosis

Supernumery vessels are defined as presence of four or more vessels present within the umbilical cord. This condition may often accompany a poor pregnancy outcome and presence of congenital anomalies. They may be present in healthy fetuses. Chorangiosis is an adaptive response to in-utero hypoxia and its presence signifies better pregnancy outcomes. Abnormalities that lead to multiple cord vessels are rare with the majority of reported cases highlighting four vessels due to a persistent right umbilical vein. Here, we report a case of a 5-vessel umbilical cord associated with chorangiosis of placenta, detected incidentally after birth.

Sacral Fractures: A Review.

At the cornerstone of the pelvis and spine, the sacrum may be fractured in patients of all ages. Sacral fractures range from high-energy injuries, with mortality rates of up to 18%, to low-energy insufficiency fractures. The intricate geometry of the sacrum, the breadth of morphotypes, and the presence of congenital anomalies all can complicate the treatment of these fractures. Agreement on the surgical indications for these injuries is limited. This narrative review aims to update orthopedic surgeons on the clinical evaluation and the non-surgical and surgical management of these fractures.

The risks of birth defects and childhood cancer with conception by assisted reproductive technology.

The risks of birth defects and childhood cancer with conception by assisted reproductive technology.

ASSESSMENT OF THE TONGUE FRENULUM IN BECKWITH-WIEDEMANN SYNDROME: PRE- AND POSTFRENECTOMY FINDINGS

Beckwith-Wiedemann syndrome (BWS) is a genetic condition of overgrowth characterized by the presence of congenital anomalies and manifested through the triad omphalocele, gigantism, and macroglossia. The aim of this study is to report the pre- and postfrenectomy findings in a female patient aged 9 months with BWS. The patient was evaluated by the protocol of the tongue's frenulum for babies (Neonatal Tongue Screening Test) and scored 16 points, indicating the need for frenectomy. The surgical procedure was performed using the traditional technique. Wound healing was satisfactory, and the total score obtained in the protocol reapplication (5 points) showed functional results of improvement in sucking and tongue mobility, confirming the importance of the frenectomy. After the surgery, macroglossia was observed as a maternal complaint (previously not mentioned). Frenectomy, despite the macroglossia related to the BWS, allowed anatomical and functional advances of the tongue in the present clinical case.

Assessment of Perinatal Clinical Characteristics, Perinatal Risk Factors, and Microbial Profile in Congenital Nasolacrimal Duct Obstruction in a Tertiary Care Center: A Descriptive Study.

PurposeTo assess the perinatal risk factors, clinical characteristics, and microbial profile in congenital nasolacrimal duct obstruction (CNLDO).MethodsA prospective observational study was conducted in pediatric patients of age <5 years. After a thorough clinical evaluation, the diagnosis of the CNLDO was confirmed by a Jones dye test or fluorescein dye disappearance test. A microbiological culture of lacrimal sac resurge was done with a sterile swab stick without touching the lid margins. Antibiotic susceptibility was then performed for the standard antibiotics.ResultsSeventy-one eyes of 52 children were included in the study. The mean age was 3.4 months. Our research found an equal number of cases born via spontaneous vaginal delivery and Caesarean section. Nine children (17.3%) had associated systemic and ocular anomalies. The number of cultures that were positive for any growth was 19 (27%). The most common isolate was Streptococcus pneumoniae which constituted eight cases (42%), followed by Pseudomonas aeruginosa (15.8%), and Escherichia coli (10.5%). Other organisms that grew were Klebsiella pneumoniae, Staphylococcus aureus, Staphylococcus epidermidis and nonfermenting gram-negative bacilli. Gram-positive organisms were susceptible to ciprofloxacin, amoxiclav, and oxacillin, and most of them were resistant to erythromycin. In comparison, gram-negative organisms showed 62.5% resistance and 37.5% susceptibility to ciprofloxacin.ConclusionsCNLDO was more commonly unilateral, in male, preterm, and normal birth weight infants. Bilateral CNLDO was more commonly associated with coexisting ocular or systemic anomalies. Prematurity, delivery by Caesarean section, and presence of congenital anomalies were associated with a prolonged course. S. pneumoniae was the predominant isolate in our patient population.

Exposure to corticosteroids in the first trimester is associated with an increased risk of urogenital congenital anomalies.

Does maternal exposure to first trimester corticosteroids in IVF/ICSI treatment result in an increased risk of congenital anomalies? Children born with the aid of IVF/ICSI whose mothers were treated with adjuvant corticosteroids during the first trimester had an increased risk of cryptorchidism, hypospadias and talipes. Maternal exposure to corticosteroids may increase the risk of congenital anomalies such as cleft palate and neural tube defects. However, the existing studies have conflicting outcomes, are underpowered, and do not study a population undergoing IVF/ICSI, a group known to be at increased risk of abnormalities. This retrospective cohort analysis covering Monash IVF fertility clinics in Melbourne, Australia assessed the outcomes of 12 426 live births from both fresh and frozen embryo transfers between 2010 and 2016. There were 618 live births included in our study group of mothers exposed to corticosteroids (oral prednisolone or dexamethasone) during their IVF/ICSI treatment, with the remainder of births not exposed to steroids (control, n = 11 808). The primary outcome measured was the presence of congenital anomalies and secondary outcomes were birth weight and gestation length. Multivariate binary logistic regression was used to assess the independent effects of corticosteroid exposure and the freezing of embryos, with adjustment for maternal age at oocyte retrieval, smoking status, number of cycles taken, BMI, etiology of the infertility and the use of ICSI. Results are presented as incidence rate ratios (IRRs) with 95% CIs. Amongst 12 426 live births, and 597 birth defects, multivariate logistic regression demonstrated there was an increased incidence in talipes equinovarus (1.33% vs 0.32%, adjusted IRR = 4.30, 95% CI = 1.93, 9.58; P < 0.001), hypospadias (0.66% vs 0.18%, adjusted IRR = 5.90, 95% CI = 2.09, 16.69; P = 0.001) and cryptorchidism (0.83% vs 0.19%, adjusted IRR = 5.53, 95% CI = 1.91, 15.42; P = 0.001) in the offspring of mothers exposed to corticosteroids compared to those who were unexposed. The incidence of neither neural tube defects nor cleft palate were significantly increased in babies exposed to corticosteroids. The sex ratio of infants exposed to corticosteroids during a fresh embryo transfer cycle significantly favored males but reverted to the normal sex ratio in infants conceived in frozen embryo transfer cycles. This was a retrospective observational cohort study using administrative datasets with the potential for measurement error and unobserved confounding. Missing outcome data were obtained from patients using self-report leading to possible ascertainment bias. Given the rare incidence of some of the anomalies assessed, the study was underpowered to identify differences in abnormality rates for some specific anomalies. The findings of this study, the largest of its kind, suggest that caution should be heeded when prescribing corticosteroids to women undergoing IVF/ICSI, given that this study has now identified three previously unassociated serious neonatal complications (talipes, hypospadias and cryptorchidism), plus a potential alteration in sex ratio. Physicians should be careful in using corticosteroids in the critical first trimester and should counsel patients regarding the potential risks of this treatment. There was no funding sought or obtained for this study. K.T., V.T., B.V. and D.Z.-F. are employees or contractors to Monash IVF and hold a minority stock position in Monash IVF. R.J.W. reports no conflict of interest. N/A.

Risk of Adverse Pregnancy Outcomes in Young Women with Thyroid Cancer: A Systematic Review and Meta-Analysis.

Simple SummaryThis meta-analysis of 22 articles investigated whether thyroidectomy or radioactive iodine treatment (RAIT) in patients with differentiated thyroid cancer was associated with an increase in adverse pregnancy outcomes, such as miscarriage, preterm delivery, and congenital malformations. The results of this meta-analysis suggest that thyroid cancer treatment, including RAIT, is not associated with an increased risk of adverse pregnancy outcomes, including miscarriage, preterm labor, and congenital anomalies.This meta-analysis investigated whether thyroidectomy or radioactive iodine treatment (RAIT) in patients with differentiated thyroid cancer (DTC) was associated with an increase in adverse pregnancy outcomes, such as miscarriage, preterm delivery, and congenital malformations. A total of 22 articles (5 case-control and 17 case series studies) from 1262 studies identified through a literature search in the PubMed and EMBASE databases from inception up to 13 September 2021 were included. In patients with DTC who underwent thyroidectomy, the event rates for miscarriage, preterm labor, and congenital anomalies were 0.07 (95% confidence interval [CI], 0.05–0.11; 17 studies), 0.07 (95% CI, 0.05–0.09; 14 studies), and 0.03 (95% CI, 0.02–0.06; 17 studies), respectively. These results are similar to those previously reported in the general population. The risk of miscarriage or abortion was increased in patients with DTC when compared with controls without DTC (odds ratio [OR], 1.80; 95% CI, 1.28–2.53; I2 = 33%; 3 studies), while the OR values for preterm labor and the presence of congenital anomalies were 1.22 (95% CI, 0.90–1.66; I2 = 62%; five studies) and 0.73 (95% CI, 0.39–1.38; I2 = 0%; two studies) respectively, which showed no statistical significance. A subgroup analysis of patients with DTC according to RAIT revealed that the risk of miscarriage, preterm labor, or congenital anomalies was not increased in the RAIT group when compared with patients without RAIT. The results of this meta-analysis suggest that thyroid cancer treatment, including RAIT, is not associated with an increased risk of adverse pregnancy outcomes, including miscarriage, preterm labor, and congenital anomalies.

Divide to Conquer: Early Diagnosis Enhances Intervention in Cerebral Palsy

Divide to Conquer: Early Diagnosis Enhances Intervention in Cerebral Palsy

Cognitive, Emotion and Behavioral Reactions in Pregnant Women Who Have Termination of Pregnancy due to Congenital Fetal Anomaly

Background: Congenital disorders are a global problem with a greater incidence in developing countries. Knowing the presence of congenital abnormalities in pregnancy is a bad experience that is very unpleasant. In fact, it is Bed Breaking News which is very difficult for a pregnant woman to accept. A special approach is needed to inform patients and their families. Especially if the pregnancy termination will be carried out. Methods: A case report of a 26-year-old second pregnant woman, with multiple congenital fetal anomaly Results and Discussion: The mental stress experienced before and after the termination of pregnancy proved to be a serious problem. Knowing that there are congenital and multiple abnormalities in the baby they are carrying, pregnant women experience shock, sadness, and do not want to accept it, let alone termination of pregnancy. The patient even had time to seek a second opinion to reassure him. After the termination of pregnancy, the patient has just entered a recovery period and is gradually improving. Conclusion: Although it takes time, the patient is ready to accept the results of the examination and agrees to terminate the pregnancy.

Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis

It has been estimated that at least 6.0% of neonates admitted to the Neonatal Intensive Care Unit remains genetically undiagnosed because genetic testing is not routinely performed. The objective of this study is to provide an overview of average healthcare costs for patients admitted to the Neonatal Intensive Care Unit and to assess possible impact of implementing Whole Exome Sequencing (WES) on these total healthcare costs. Hereto, we retrospectively collected postnatal healthcare data of all patients admitted to the level IV Neonatal Intensive Care Unit at the Radboudumc (October 2013–October 2015) and linked unit costs to these healthcare consumptions. Average healthcare costs were calculated and a distinction between patients was made based on performance of genetic tests and the presence of congenital anomalies. Overall, on average €26,627 was spent per patient. Genetic costs accounted for 2.3% of all costs. Healthcare costs were higher for patients with congenital anomalies compared to patients without congenital anomalies. Patients with genetic diagnostics were also more expensive than patients without genetic diagnostics. We next modelled four scenarios based on clinical preselection. First, when performing trio-WES for all patients instead of current diagnostics, overall healthcare costs will increase with 22.2%. Second, performing trio-WES only for patients with multiple congenital anomalies will not result in any cost changes, but this would leave patients with an isolated congenital anomalies untested. We therefore next modelled a scenario performing trio-WES for all patients with congenital anomalies, increasing the average per patient healthcare costs by 5.3%. This will rise to a maximum of 5.5% when also modelling for an extra genetic test for clinically selected patients to establish genetic diagnoses that are undetectable by WES. In conclusion, genetic diagnostic testing accounted for a small fraction of total costs. Implementation of trio-WES as first-tier test for all patients with congenital anomalies will lead to a limited increase in overall healthcare budget, but will facilitate personalized treatments options guided by the diagnoses made.