Second trimester induced abortions due to fetal anomalies-a population-based study of diagnoses, examinations and clinical management.

INTRODUCTION: Two-thirds of induced abortions after gestational week (gw) 18 are performed due to fetal anomalies. The potential of the fetus to survive outside the uterus after birth is the upper limit for induced abortions in Sweden. Due to advances in neonatal medicine, fetal viability and the upper limit of late induced abortions have been converging over the last few decades. The aim of the study was to examine clinical management of fetal anomalies, including time frames, leading to second trimester abortions. MATERIAL AND METHODS: All induced abortions due to fetal anomalies after gw 11+6 in Uppsala county, Sweden, from 2010 to 2017, were reviewed from electronic medical records in a retrospective descriptive study. In total, 180 women underwent 185 abortions divided into 107 (57.8%) in an early group (gw 12+0 to 18+0), and 78 (42.2%) in a late group (≥ gw 18+1). Examinations performed were genetic testing, fetal echocardiography, magnetic resonance imaging (MRI) and pediatric counseling. Time frames from suspicion of fetal anomaly to abortion were reviewed. RESULTS: Anomalies were subdivided into groups of diagnosis: chromosomal (n = 104), central nervous system (n = 22), heart (n = 12), urinary tract (n = 10) and others (n = 37). Chromosomal anomaly was present in 82 (76.6%) in the early group and 22 (28.2%) in the late group. In the early group, examinations performed preceding a conclusive diagnosis were mainly QF-PCR for trisomies (n = 97), microarray (n = 13), and genetic counseling (n = 14). In the late group, trisomy test was performed in 68, microarray in 31, MRI in 24, fetal echocardiography in 28, and pediatric or genetic counseling in 43 and six cases, respectively. Mean time interval from suspicion of fetal anomaly to the woman's decision was 5 days before gw 18+1, 7 days in gw 18, and 13 days in gw 21. More than two examinations before reaching the decision to terminate the pregnancy were needed in two abortions (25.0%) in gw 18, increasing to 16 (80.0%) in gw 21. CONCLUSIONS: Increasing complexity and diversity in fetal diagnoses require time-consuming examinations in late-induced abortions compared with earlier gestational weeks. A structured expedient process is necessary to allow for decision time and minimize terminations approaching the legal limit.

Wilms Tumor Associated With the 9q22.3 Microdeletion Syndrome: 2 New Case Reports and a Review of The Literature.

BACKGROUND: The 9q22.3 syndrome is an autosomal dominant microdeletion syndrome with similarities to Gorlin syndrome (GS). It encompasses the PTCH1 gene locus that harbors mutations for GS. Although the 9q22.3 syndrome is associated with Wilms tumor (WT), WT is not a GS-associated tumor, implying a different mechanism involving PTCH1, or a different locus in the 9q22.3 region. The goal of this study is to report the association between WT and 9q22.3 syndrome and review the outcome of treatment. OBSERVATIONS: We report 2 new cases of WT with 9q22.3 deletion and review the literature. Among the 44 described patients with 9q22.3 deletion, 7 developed WT (16%) at a mean age of 45 months (range, 4 to 84 mo). All patients had dysmorphic features, macrocephaly, and developmental delay, and there was an association with overgrowth (4/7). One patient had bilateral WT, another had a synchronous rhabdomyosarcoma. The outcome was excellent with all cases reported to be in complete remission. CONCLUSIONS: The 9q22.3 microdeletion syndrome should be considered at diagnosis of WT in children with dysmorphic features. Conversely, patients with a known 9q22.3 deletion syndrome should be considered for a WT predisposition surveillance program, especially those with overgrowth. The management should be individualized and given the excellent prognosis, and the unknown future risk of metachronous disease or other malignancy, the surgical approach should be carefully considered.

Congenital Heart Surgery on In-Hospital Mortality in Trisomy 13 and 18.

BACKGROUND AND OBJECTIVES: Congenital heart disease (CHD) is common in trisomy 13 (T13) and trisomy 18 (T18), but surgical repair has not been offered in most centers. Data on outcomes of congenital heart surgery (CHS) for T13 and T18 are lacking. We sought to determine the impact of CHS on in-hospital mortality in T13 and T18. METHODS: Data from the 2004 to 2015 Pediatric Health Information System database were used to identify inpatients with T13 or T18 and CHD. Data were restricted to newborns with T13 or T18 admitted at ≤14 days of age. Hospital readmissions were examined to analyze longer-term in-hospital mortality. In-hospital mortality and length of stay were compared between infants with and without CHD and with and without CHS. RESULTS: The study cohort included 1020 infants with T18 and 648 infants with T13. CHD was present in 91% of infants with T18 and 86% of infants with T13. CHS was performed in 7% of each group. In-hospital mortality was decreased in those who underwent CHS (64% lower in T18 [P <.001]; 45% lower in T13 [P = .003]) and remained decreased throughout the 24 months of follow-up. In-hospital mortality was decreased in infants with higher weight, female sex, and older age at admission. CONCLUSIONS: CHS is associated with decreased in-hospital mortality in T18 and T13. These results suggest CHS may be beneficial in select cases.

Anesthetic Management of a Patient With Emanuel Syndrome.

Emanuel syndrome is associated with supernumerary chromosome, which consists of the extra genetic material from chromosome 11 and 22. The frequency of this syndrome has been reported as 1 in 110,000. It is a rare anomaly associated with multiple systemic malformations such as micrognathia and congenital heart disease. In addition, patients with Emanuel syndrome may have seizure disorders. We experienced anesthetic management of a patient with Emanuel syndrome who underwent palatoplasty. This patient had received tracheotomy due to micrognathia. In addition, he had atrial septal defect, mild pulmonary artery stenosis, and cleft palate. Palatoplasty was performed without any complication during anesthesia. Close attention was directed to cardiac function, seizure, and airway management.

Pregnancy Outcome following Prenatal Diagnosis of Chromosomal Anomaly: A Record Linkage Study of 26,261 Pregnancies.

Previous studies have demonstrated the influence of changes in the age at which women give birth, and of developments in prenatal screening and diagnosis on the number of pregnancies diagnosed and terminated with chromosomal anomalies. However, we are unaware of any population studies examining pregnancy terminations after diagnosis of chromosomal anomalies that has included all aneuploidies and the influence of maternal factors. The aims of this study were to examine the association between results of prenatal tests and pregnancy termination, and the proportion of foetuses with and without chromosomal anomalies referred for invasive diagnostic tests over time. Diagnostic information of 26,261 prenatal invasive tests from all genetic service laboratories in Scotland from 2000 to 2011 was linked to Scottish Morbidity Records to obtain details on pregnancy outcome. Binary logistic regression was carried out to test the associations of year and type of diagnosis with pregnancy termination, while controlling for maternal age, neighbourhood deprivation and parity. There were 24,155 (92.0%) with no chromosomal anomalies, 1,483 (5.6%) aneuploidy diagnoses, and 623 (2.4%) diagnoses of anomaly that was not aneuploidy (including translocations and single chromosome deletions). In comparison with negative test results, pregnancies diagnosed with trisomy were most likely to be terminated (adjusted OR 437.40, 95% CI 348.19-549.46) followed by other aneuploid anomalies (adjusted OR 95.94, 95% CI 69.21-133.01). During the study period, fewer pregnancies that were diagnosed with aneuploidy were terminated, including trisomy diagnoses (adjusted OR 0.44, 95% CI 0.26-0.73). Older women were less likely to terminate (OR 0.35, 95% CI 0.28, 0.42), and parity was also an independent predictor of termination. In keeping with previous findings, while the number of invasive diagnostic tests declined, the proportion of abnormal results increased from 6.09% to 10.88%. Systematic advances in prenatal screening have improved detection rates for aneuploidy. This has been accompanied by a reduction in the rate of termination for aneuploidy. This may reflect societal changes with acceptance of greater diversity, but this is speculation, and further research would be needed to test this.

Procedures in the 1st year of life for children with trisomy 13 and trisomy 18, a 25-year, single-center review.

Care of the child born with trisomy 13 or 18 has evolved over the past few decades, leading to increased healthcare utilization. We hypothesized that there has been an increase in procedures across all intensity types, including major, invasive procedures. We performed a retrospective-cohort study of children with trisomy 13 or 18 from 1990 to 2014 in a quaternary, free-standing children's hospital. Children were identified using ICD-9 billing diagnoses. Procedures were identified during these encounters and categorized by intensity (major, intermediate, or minor). One hundred thirty-two children with trisomy 13 or 18 were identified. In children with trisomy 13, major procedures increased from period 1 (1990-1997) to period 3 (2006-2013) from 0.11 to 0.78 procedures per patient. For trisomy 18, the increase between the time periods was from 0.14 to 1.33 procedures per patient. By the end of the study period, nearly all trisomy 13 patients had a major procedure and the majority of those with trisomy 18 had undergone a major procedure. Estimated 1-year survival for those with a major procedure was 30% and 22% for trisomies 13 and 18, respectively. In conclusion, there was an increasing rate of procedures per patient of all intensity levels over the 25-year study period. Given differences in characteristics in those with trisomies 13 and 18, and effects of intervention on survival, an individualized approach to care of these patients should be employed by parents and healthcare providers, using factors such as trisomy type, infant gender, co-morbidities, and parental preference. © 2016 Wiley Periodicals, Inc.

Norwood Procedure Performed on a Patient With Trisomy 13.

Trisomy 13 is associated with a variety of congenital anomalies, some of which are life-threatening and related to poor prognosis. Therefore, cardiac surgery is rarely offered to these patients, especially to those with complex cardiac anomalies. We report the case of a neonate weighing 2324 g who was born with severe congenital heart defects. Transthoracic echocardiography revealed the diagnoses of asplenia, single ventricle, aortic stenosis, coarctation of the aorta, hypoplastic aortic arch, and total anomalous pulmonary venous return. She was hemodynamically unstable. Palliative Norwood procedure with right ventricle-pulmonary artery conduit (RV-PA conduit) was performed at the age of 1 day to save her life. On postoperative day 7, chromosome analysis revealed trisomy 13. Echocardiography revealed good heart function; stable hemodynamic status was achieved with minimal amounts of inotropic agents. However, she developed anuria, which did not improve despite situational possible interventions, including peritoneal dialysis and continuous hemodiafiltration. On postoperative day 37, she succumbed to sudden cardiorespiratory failure. Nevertheless, this case indicates that a neonate with trisomy 13 can have a better chance at survival with cardiac surgery such as the Norwood procedure with an RV-PA conduit.

Otolaryngologic surgery in children with trisomy 18 and 13.

OBJECTIVES: Trisomy 18 and 13 are the most common autosomal trisomy disorders after Down syndrome. Given the high mortality rate (5-10% one-year survival), trisomy 18 and 13 were historically characterized as uniformly lethal and palliation was the predominant management approach. Management strategy has shifted with recognition that through medical and surgical intervention, children with trisomy 18 and 13 can achieve developmental milestones, live meaningful lives, and exhibit long-term survival. Otolaryngologic surgery in children with trisomy 18 and 13 has not been described. The objective of this article is to describe the role of the otolaryngologist in the management of children with trisomy 18 and 13. METHODS AND MATERIALS: Retrospective cohort analysis of the surgery registry for the Support Organization for Trisomy 18, 13 and Related Disorders for otolaryngologic surgeries reported from 1988 through June 1, 2014. RESULTS: In the database of approximately 1349 children, 1380 procedures were reported, 231 (17%) of which were otolaryngologic. The most common otolaryngologic procedures were tympanostomy tube placement (57/231, 25%), cleft lip repair (40/231, 17%), tracheostomy (38/231, 16.5%), tonsillectomy and/or adenoidectomy (37/231, 16%), and cleft palate repair (30/231, 13%). Of the ten most common procedures reported, four were otolaryngologic. CONCLUSIONS: Seventeen percent of procedures performed in children with trisomy 18 and 13 were otolaryngologic, highlighting the significant role of the otolaryngologist in the treatment of these patients. Surgical intervention may be considered as part of a balanced approach to patient care.

Anesthetic management of pediatric patients with Emanuel syndrome.

Emanuel syndrome is a rare anomaly associated with multiple systemic malformations. We present two cases involving pediatric patients with Emanuel syndrome. The first patient presented with micrognathia and had patent ductus arteriosus and a single kidney. The patient was difficult to intubate with McGRATH(®) but was successfully intubated with an Airtraq(®) device. The second patient did not present with micrognathia and was not difficult to intubate. A thorough examination of the heart, kidney, and spinal cord is important when planning the anesthetic management of patients with Emanuel syndrome. Moreover, adequate preparation for a difficult airway is essential, and the Airtraq(®) device may be useful for intubating patients with Emanuel syndrome with micrognathia.

[Clinical ocular manifestation of Patau's syndrom (trisomy 13)--own observations]. / Oczne objawy kliniczne w zespole Pataua (trisomia 13.)--obserwacje wlasne.

PURPOSE: The purpose of the article is to present the clinical abnormalities of Patau's syndrome (trisomy13). MATERIAL AND METHODS: Examination was performed on 18 months old girl with trisomy13 in which we noted characteristic malformations in ocular system. The patient underwent cataract surgery and intraocular lens implantation in right eye. In this case the diagnosis of trisomy 13 was confirmed by karyotype. RESULTS: Inferonasal iris colobomas, anterior-posterior form of persistent hyperplastic primary vitreus (PHPV), persistent tunica vasculosa lentis (PTVL), coloboma of the lens and cataract in right eye were found. Cataract surgery was performed with good results. Systemic abnormalities included heart defect, brain defect, cleft palate, small head, dysplastic ears, mental retardation, epilepsy and increased muscle tone. CONCLUSIONS: The child with the presence of inferonosal iris colobomas and cataract and with other systemic and dysmorfic findings, should have kariotype examination to look for trisomy 13.

Anesthetic implications of Jacobsen syndrome.

Jacobsen syndrome (JS), also known as 11q-syndrome, is a congenital disorder associated with a deletion of the long arm of chromosome 11. Patients with JS characteristically exhibit multiple dysmorphic features, developmental delay, cardiac anomalies, and platelet abnormalities. Anesthetic issues related to the care of patients with JS concern airway management secondary to short neck, abnormal mouth shape and micrognathia/retrognathia, a high incidence of cardiac anomalies, and platelet dysfunction. Importantly, platelet abnormalities affect 95% of reported JS patients and involve platelet number, size and function. Two children with JS who required open heart surgery are presented and anesthetic management issues discussed. These patients represent the first reports regarding the perioperative issues in caring for patients with JS.

Partial tetrasomy of chromosome 22: genetic and surgical implications for otolaryngologists.

Partial tetrasomy of chromosome 22 is a rare multiple congenital anomaly syndrome that is more commonly known as cat-eve syndrome (CES). It is caused by the duplication of a 2-million base region of chromosome 22 (22 pter --> q 11 x 2). The phenotype is extremely variable, and its clinical characteristics include a combination of craniofacial, cardiac, renal, gastrointestinal, and genito-urinary defects. We describe a rare occurrence of CES in a Brazilian family: Three siblings were affected--monozygotic twin boys and their younger brother. All 3 were born to healthy nonconsanguineous parents. On examination, all 3 were found to have strabismus, primary telecanthus, bilateral coloboma iridis, and low-set ears with posterior rotation of the pinnae. Partial tetrasomy of chromosome 22 was confirmed by fluorescent in situ hybridization. To our knowledge, this is the first report of such an occurrence in one family. We discuss the genotype and phenotype of CES, with particular reference to inheritance patterns and craniofacial defects.

Ophthalmic presentation of the Muir Torre syndrome.

The Muir Torre syndrome (MTS) is a rare autosomal dominant condition characterized by the association of certain skin tumors and systemic malignancies. We report the ophthalmic presentation of this syndrome in two cases.

Ethical issues concerning cardiac surgery in patients with syndromic abnormalities.

Advances in surgical techniques, cardiac anesthesia, and pre- and postoperative care have made the surgical treatment of complex congenital cardiac disease available to an ever-increasing number of children, including those with a wide range of extracardiac anomalies. Over the past few decades cardiac surgery in infants and children with syndrome-associated physical and mental conditions has undergone a remarkable change, with previously held norms abandoned for new standards. The social, ethical, and clinical appropriateness of these changes has been the focus of much attention. In this article, we provide a brief history of cardiac surgery in children with congenital syndromes, discuss some groundbreaking cases such as that of "Baby Doe," and present some rules of thumb for the pediatric cardiac surgeon and cardiologist to use when caring for children with congenital syndromes.