Life-threatening Anomalies Research Articles

Analysis of perinatal outcomes of pregnancies from consanguineous marriages in a tertiary hospital in Bursa, Turkey

Aim: In this article, we aimed to contribute to the outcomes of the consanguineous marriage literature by analyzing fetal results in this population.
 Material and Method: We included 185 patients in this retrospective research. Demographic, clinical, ultrasonographic and delivery data were received from electronic patient records. Also, we recorded the postnatal results, and findings of the infants. By combining all the data, we reported a descriptive analysis of the results of our consanguineous marriage cases with perinatology follow-up.
 Results: We had 231 pregnant women in the study, and their mean age was 28.9 years. 117 (50.6%) of the pregnant women had first-degree, and 114 (50.4%) had second-degree consanguineous marriages. Fetal findings were evaluated as usual in 157 (68%) of the pregnant in the ultrasonographic scans performed between prenatal 20-24 weeks of gestation. When we look at the first postnatal examinations of the babies, no abnormal findings were in 134 babies (58.8%). Twenty-two infants (9.6%) were followed up in the neonatal intensive care unit with the diagnosis of transient tachypnea of the newborn, and phototherapy was required in 14 infants (6.1%) due to hyperbilirubinemia. The number of cases requiring surgical intervention after delivery or with significant life-threatening anomalies included 56 findings in 32 infants. There were spina bifida cases in 8 infants and hydrocephalus in 9 infants. 
 Conclusion: There was an increased level of congenital anomalies associated with consanguineous marriages. Health care centers should educate individuals regarding the negative role of cousin marriages leading to abnormalities in children.

SMFM Fetal Anomalies Consult Series #4: Genitourinary anomalies

The fetal genitourinary system includes the fetal kidneys, ureters, and bladder and internal and external genitalia. The standard ultrasound examination of the fetal genitourinary system after the first trimester of pregnancy includes visualization of the fetal kidneys and bladder (Figures 1, A and B and 2). The renal pelvis should be assessed for dilation in an axial view of the anteroposterior diameter in the second and third trimesters of pregnancy (Figure 1, C). The fetal genitalia should be examined in multiple gestations, as this can aid in determination of chorionicity, or when medically indicated as when a patient is at risk of an X-linked genetic disorder (Figure 3). In addition, measurement of the amniotic fluid volume should be performed (Figure 4), as it provides a functional assessment of the fetal kidneys, which produce amniotic fluid after 16 to 17 weeks of gestation. Renal pathology can therefore result in both increased and decreased amniotic fluid volume.Figure 2Fetal bladderShow full captionFetal bladder in the (A) first and (B) second trimesters of pregnancy.Society for Maternal-Fetal Medicine. SMFM Fetal Anomalies Consult Series #4. Am J Obstet Gynecol 2021.View Large Image Figure ViewerDownload Hi-res image Download (PPT)Figure 3Female and male genitalia in the second trimester of pregnancyShow full captionA, Female genitalia in the second trimester of pregnancy. B, Male genitalia in the second trimester of pregnancy.Society for Maternal-Fetal Medicine. SMFM Fetal Anomalies Consult Series #4. Am J Obstet Gynecol 2021.View Large Image Figure ViewerDownload Hi-res image Download (PPT)Figure 4Amniotic fluid assessmentShow full captionSociety for Maternal-Fetal Medicine. SMFM Fetal Anomalies Consult Series #4. Am J Obstet Gynecol 2021.View Large Image Figure ViewerDownload Hi-res image Download (PPT) Fetal bladder in the (A) first and (B) second trimesters of pregnancy. Society for Maternal-Fetal Medicine. SMFM Fetal Anomalies Consult Series #4. Am J Obstet Gynecol 2021. A, Female genitalia in the second trimester of pregnancy. B, Male genitalia in the second trimester of pregnancy. Society for Maternal-Fetal Medicine. SMFM Fetal Anomalies Consult Series #4. Am J Obstet Gynecol 2021. Society for Maternal-Fetal Medicine. SMFM Fetal Anomalies Consult Series #4. Am J Obstet Gynecol 2021. When indicated, a detailed ultrasound examination (76811) may include an examination of the adrenal glands and interrogation of the renal arteries (Figure 5). Examination of the fetal genitalia is also included.1AIUM practice parameter for the performance of detailed second- and third-trimester diagnostic obstetric ultrasound examinations.J Ultrasound Med. 2019; 38: 3093-3100Crossref PubMed Scopus (31) Google Scholar Abnormalities of the genitourinary system are among the most common fetal structural malformations. Such anomalies range from mild (eg, mild urinary tract dilation) to severe life-threatening anomalies (eg, bilateral renal agenesis). Because the kidneys are responsible for the production of amniotic fluid, serious renal abnormalities that impair the production or excretion of urine (eg, urinary tract obstruction) can result in severe oligohydramnios, which can lead to pulmonary hypoplasia and can be life-threatening. The fetal bladder and renal pelvis are relatively easily visualized, and therefore, renal abnormalities are usually readily detected. Those abnormalities that are more difficult to identify, such as unilateral renal agenesis or a pelvic kidney, are less likely to be life-threatening or harmful to the fetus. Most renal anomalies are isolated, and as a general rule, the risk of underlying aneuploidy or genetic syndromes is low. The exception is polycystic kidneys, which can be associated with autosomal recessive or dominant disorders. Other genetic syndromes can be characterized by various forms of multicystic or polycystic kidneys. Therefore, cystic kidney disease should prompt careful assessment to look for other anomalies and inherited diseases. This Consult reviews the ultrasonographic diagnosis, genetic evaluation, and potential treatment and outcome of the following genitourinary abnormalities:•Adrenal neuroblastoma•Autosomal recessive polycystic kidney disease•Bladder outlet obstruction•Duplicated collecting system•Ectopic ureterocele•Hydroureter•Hypospadias•Multicystic dysplastic kidney•Ovarian cyst•Pelvic kidney•Renal agenesis•Renal pelvic dilation•Urinoma When coding for fetal genitourinary anomalies, the Society for Maternal-Fetal Medicine Coding Committee recommends utilizing the International Classification of Diseases, Tenth Revision, code series O35.8XX. The authors wish to acknowledge Mary E. Norton, MD; Jeffrey A. Kuller, MD; and Angie C. Jelin, MD, for providing a review of the genetics content and Joseph Wax, MD, for providing a general review of this Consult.

Surveillance guidelines for children with trisomy 18

Trisomy 18 is the second most common aneuploidy syndromes in live born infants. It is associated with high mortality rates, estimated to be 75%-95% in the first year of life, as well as significant morbidity in survivors. The low survival is largely due to the high prevalence of severe congenital anomalies in infants with this diagnosis. However, interventions to repair or palliate those life-threatening anomalies are being performed at a higher rate for these infants, resulting in increased rates of survival beyond the first year of life. While it is well documented that trisomy 18 is associated with several cardiac malformations, these patients also have respiratory, neurological, neoplastic, genitourinary, abdominal, otolaryngologic, and orthopedic complications that can impact their quality of life. The goal of this review is to present a comprehensive description of complications in children with trisomy 18 to aid in the development of monitoring and treatment guidelines for the increasing number of providers who will be caring for these patients throughout their lives. Where the evidence is available, this review presents screening recommendations to allow for more rapid detection and documentation of these complications.

Effective surgical treatment of life-threatening huge vascular anomalies associated with thrombocytopenia and coagulopathy in infants unresponsive to drug therapy

BackgroundSystemic drug therapy is generally recommended for infant huge vascular anomalies associated with thrombocytopenia and coagulopathy, but some patients are not suitable due to drug unresponsiveness or life threatening conditions before the drug works, who will need to receive surgical treatment. This study retrospectively analyzed the clinical features, imaging features, and surgical outcomes of these patients.MethodsThe clinical data of 4 infants with huge vascular anomalies (2 vein malformations (VMs) and 2 kaposiform hemangioendothelioma (KHE)) associated with thrombocytopenia and coagulopathy treated from June 2016 to December 2017 were retrospectively analyzed. All patients received glucocorticoids, propranolol, vincristine or sirolimus treatment before admission, but the treatment was ineffective. Skin petechia, thrombocytopenia and coagulopathy were present at the time of admission. CT scanning was performed before operation. The patient’s general clinical data, hematological examination results, operation time, surgical bleeding volume, blood transfusion volume and surgical complications were collected for analysis. The patients were followed up for 10–26 months.ResultsCT scanning results of 2 patients showed special CT features without detectable enhancement within the lesion after CT enhanced scanning and multiple phleboliths formation. Four patients underwent surgical treatment successfully. Two patients underwent complete resection of the lesion, and 2 underwent cytoreductive surgery. Preoperative clinical symptoms such as skin petechia, thrombocytopenia and coagulopathy were normal at 1 week after surgery. Postoperative pathological results showed 2 cases of KHE and 2 cases of VMs. All patients were discharged from hospital without physical dysfunction, recurrence, or death.ConclusionsTimely and appropriate surgical intervention can achieve satisfactory results for infants with huge VMs and KHE who were unresponsive to drug therapy or suffering from life-threatening occasion before the drug become effective.

Anthropometric measures as biomarkers of neurodevelopmental outcomes of newborns with moderate to severe hypoxic ischemic encephalopathy.

Perinatal asphyxia is a prominent cause of neonatal mortality in the developing world. Growth in head circumference is associated with improved neurodevelopment. Previous studies found a positive correlation between additional dietary supplementation and growth in head circumference among newborns with perinatal brain injury. This study aims to evaluate the association between anthropometric parameters and developmental outcomes in newborns with hypoxic ischemic encephalopathy (HIE). Newborns at ≥36 weeks gestation with moderate to severe HIE were included in the study and growth parameters were monitored. Newborns with life-threatening anomalies were excluded. None of the study participants received therapeutic hypothermia (TH). Developmental Assessment Scale for Indian Infants (DASII) was used to evaluate neurodevelopmental outcomes at 1 year of age. Of 76 study participants, 46 were followed for 12 months, 28 died, and 2 were lost to follow-up. HIE stage III, Apgar score <5 at 5 minutes of age, pH ≤ 7.1 on first blood gas and base deficit > - 16 was associated with death or disability at 1 year of age. All anthropometric parameters were significantly lower in presence of death or disability. pH ≤ 7.1 at birth (odds ratio: 11.835, 95% CI 2.273-61.629, p = 0.003) and weight gain at one year (odds ratio 1.001, 95% CI 1.000-1.002, p = 0.03) were significantly associated with death and disability. pH > 7.1 at birth, and weight gain were associated with better neurodevelopmental outcomes at 1 year of age. Thus, in addition to TH, nutritional interventions may potentially improve outcomes among newborns with HIE.

Complex congenital cardiac anomalies in the setting of right isomerism in a 31-month-old infant: a case report

BackgroundCongenital cardiac defects are not rare among neonates. Prompt assessment for life-threatening anomalies is essential for rapid management decisions and positive outcomes. Extracardiac anomalies can occur in congenital heart defects, and their presence increases morbidity and mortality in these neonates.Case presentationWe report a case of a 31- month-old infant black girl in Tanzania who presented with an on-and-off history of difficulty in breathing, easy fatigability, facial and lower-limb swelling, recurrent respiratory tract infections, and failure to thrive.ConclusionsManagement of patients with heterotaxy syndrome is complex and largely depends on specific anatomy of both cardiac and noncardiac lesions. Cardiac and noncardiac management must be tailored to individual anatomy, including prophylaxis against encapsulated organisms for asplenic patients.

The Prevalence of Congenital Heart Disease in Nonsyndromic Cleft Lip and/or Palate: A Systematic Review of the Literature.

Life-threatening anomalies, such as congenital heart disease (CHD) must be identified in patients with cleft lip and/or palate (CL/P) to minimize perioperative risk. Nevertheless, screening practices vary highly among cleft teams and programs, and little is known about the prevalence and clinical significance of CHD in nonsyndromic CL/P patients. Through a systematic literature review, this study examines the demographics and severity of CHD in the nonsyndromic CL/P population. The implications of concomitant CHD in providing safe and comprehensive cleft care both in the United States and abroad are discussed. A systematic review of PubMed literature from 1980 to September 2015 was performed following PRISMA guidelines. Studies describing rates of CHD and severity of lesions specifically in nonsyndromic and all CL/P patients were included. Analysis of cumulative data was performed according to nonsyndromic status and cleft type. Twelve studies were found to meet inclusion criteria. Of the 4055 nonsyndromic CL/P patients who met inclusion criteria, 7.42% (n=301) had CHD, which was significantly greater than the general population (~1%; odds ratio [OR], 7.94; P<0.0001). Congenital heart disease was significantly more common in cleft palate (CP) (OR, 15.1), combined CL and palate (CL+P) (OR, 13.5), and CL (OR, 4.23) compared with the general population. Palatal clefts (CP and CL+P) had significantly increased odds of CHD compared with CL (OR, 3.58 and 3.19, respectively, both P<0.0001). The most common forms of CHD were atrial or ventricular septal defects (n=210, 74.2%), which typically do not require surgical intervention in the general population. Clinical significance of these CHD lesions in CL/P patients is not fully known. Cleft management programs aim to maximize the number of patients receiving care while maintaining patient safety. Appropriate evaluation of perioperative risk necessitates understanding the prevalence of CHD in CL/P patients and the severity of those lesions. Patients with CL/P, particularly patients with palatal clefts, have significantly higher odds of having CHD than the general population. Congenital heart disease is most likely to present as atrial or ventricular septal defects, which are lesions that are unlikely to impact safety during cleft repair surgery.

Management of Congenital Diaphragmatic Hernia in Newborn - Paradigm Shift and Ethical Issues.

Management of congenital diaphragmatic hernia (CDH) begins soon after it is detected, whether antenatally or postnatally. Assessment of the severity of the condition, associated congenital anomalies, maternal health and related issues, weight of the fetus/baby, mode of delivery, timing of delivery, immediate appropriate management of the baby with CDH at birth, appropriate utilization of available treatment modalities as well as infrastructure of the treating institute have an impact on the outcome of the neonate. Survival without significant long-term/permanent morbidity is considered as good outcome. With advances in antenatal diagnosis, several legal and ethical considerations have cropped up. While on one hand there are proponents of early antenatal diagnosis and medical termination of pregnancy (MTP), on the other hand there are several socio-cultural groups who look upon human life as precious and argue against MTP. There is an ongoing ethical battle between maternal vs. fetal rights; there is no way to put a lid on the controversy whether the mother be allowed to choose in favor of MTP after being aware of the anomalous fetus or, we must attempt to save every fetus irrespective of the antenatal diagnosis of life-threatening anomalies. Notwithstanding, appropriate assessment of the condition, thorough counseling and sound evidence-based decisions could avert ethical dilemma in most cases. This review article provides information about the various choices available in the diagnostic and treatment armamentarium, though it should be kept in mind that the entire spectrum of management strategies may not be universally available.

Gastroschisis with Concomitant Jejuno-Ileal Atresia Complicated by Jejunal Perforation.

Gastroschisis is an isolated structural anomaly rarely associated with other life-threatening anomalies. The most common associated gastrointestinal anomalies are intestinal atresia, Meckel's diverticulum and intestinal duplications. Intestinal atresia occurs in 10-15% of gastroschisis cases. [1] We herein report a case of gastroschisis with concomitant type III b jejuno-ileal atresia with perforation of the proximal dilated segment of jejunum with congenital short bowel successfully treated by primary anastomosis and primary abdominal closure.

Current status of surgical and anesthetic interventions in fetal life

The current advancements in fetal medicine are a celebration of human ingenuity and triumph. A realm that is both poignant and captivating, the possibilities born out of progress in anesthesia and minimal access surgical techniques in the fetal microcosm are huge. A number of strategic approaches, including fetoscopic interventions, minimally invasive surgeries, and ex utero intrapartum—the so-called EXIT—procedures have facilitated correction of a number of life-threatening fetal conditions and anomalies. However, the challenges and risks in performing in utero fetal anesthesia and surgical maneuvers are so considerable that still only a few tertiary healthcare facilities across the globe carry out these procedures.

Mel - personal reminiscence.

Mel - personal reminiscence.

A case of diprosopus: perinatal counseling and management.

Diprosopus is a rare congenital malformation associated with high mortality. Here, we describe a patient with diprosopus, multiple life-threatening anomalies, and genetic mutations. Prenatal diagnosis and counseling made a beneficial impact on the family and medical providers in the care of this case.

1146 Perfusion Index Variability and N-Terminal Pro-Brain Natriuretic Peptide Levels Before and After Cardiac Interventions in Congenital Heart Disease

Background and AimsCongenital heart diseases (CHD) are the most common life-threatening anomalies with significant morbidity and mortality in newborns. The aim of this study was to evaluate perfusion index variability...

Craniofacial repair with fetal bone grafts engineered from amniotic mesenchymal stem cells

BackgroundEthically acceptable applications of fetal tissue engineering as a perinatal therapy can be expanded beyond life-threatening anomalies by amniotic fluid cell-based methods, in which cell procurement poses no additional risk to the mother. We sought to start to determine whether osseous grafts engineered from amniotic mesenchymal stem cells (aMSCs) could be an adjunct to craniofacial repair. MethodsNew Zealand rabbits (n = 12) underwent creation of a full-thickness diploic nasal bone defect. We then equally divided animals into two groups based on how the defect was repaired: namely, size-matched implants of electrospun biodegradable nanofibers with or without nuclear labeled, allogeneic aMSCs maintained in osteogenic medium. We killed animals 8 wk post-implantation for multiple analyses. Statistical analysis included analysis of variance, post-hoc Bonferroni adjusted comparisons, and Levene's F-test, as appropriate (P < 0.05), with significance set at P < 0.05. ResultsMicro-computed tomography scanning (two- and three-dimensional) showed no significant differences in defect radiodensity between groups. However, extracellular calcium levels were significantly higher in engineered grafts than in acellular implants (P = 0.003). There was significantly greater variability in mineralization in acellular implants than in engineered grafts by both direct calcium (P = 0.008) and micro-computed tomography measurements (P = 0.032). There were no significant differences in alkaline phosphatase activity or variance between groups. We documented labeled cells in the engineered grafts. ConclusionsCraniofacial repair with osseous grafts engineered from aMSCs lead to enhanced and more consistent mineralization compared with an equivalent acellular prosthetic repair. Amniotic fluid–derived engineered bone may become a practical adjunct to perinatal craniofacial reconstruction.

A New Morphologic Classification of Congenital Tracheobronchial Stenosis

Congenital tracheal stenoses are rare and life-threatening anomalies, associated with considerable variation in both morphology and prognosis. They have been classified previously according to the length of the stenosis or the severity of the symptoms, but not according to bronchial involvement. Data from patients who underwent slide tracheoplasty for long-segment (>50%) congenital tracheal stenosis were collected. We identified four different types of bronchial arborization (normal, n=52; tracheal right upper lobe bronchus, n=10; carina with "trifurcation," n=14; and unilateral bronchial and lung agenesis, n=8). Each type included congenital tracheal (above the carina) or tracheobronchial (extending below the carina) stenosis. Eighty-four children were enrolled in the study. Preoperative ventilation was necessary in 44 patients (52.4%; 75% in patients with a single lung), and preoperative extracorporeal membrane oxygenation was needed in 10 patients (11.9%). Preoperative tracheostomy was present in 3 patients initially treated elsewhere (3.5%), and a left pulmonary artery sling was performed in 44% (37 of 84). The overall mortality was 13% (11 of 84), 7.9% in patients with tracheal stenosis and 28.6% with tracheobronchial stenosis. No deaths occurred in patients with right upper lobe bronchus anatomy. Endoscopic procedures after slide tracheoplasty were required in 34 patients (40.4%). Stents were placed in 18 patients (21.4%), with a higher incidence in those with bronchial trifurcation (42.8%, 6 of 12). This classification appears useful for the morphologic characterization of congenital airway stenosis and could be the benchmark for future prospective studies on the outcome of these patients.

Survey of physicians' approach to severe fetal anomalies

ObjectiveStandards of care regarding obstetric management of life-threatening anomalies are not defined. It is hypothesised that physicians' management of these pregnancies is variable and influenced by demographic factors.DesignA questionnaire was...

Orofaciodigital Syndrome

Orofaciodigital syndrome is a very rare entity with X-linked dominant inheritance characterized by oral, facial, and digital anomalies. Thirteen different types have been described in the literature to date. Of these, orofaciodigital syndrome type I has the highest incidence. Renal and central nervous system malformations may accompany the oral, facial, and digital anomalies. We report a case of orofaciodigital syndrome type I in a 9-year-old girl. The patient was admitted with a complaint unrelated to the syndrome. The coexistence of an oral anomaly with a digital anomaly in this patient led us to search for other possible anomalies. Ultrasonography revealed a diagnosis of polycystic kidneys. Physicians must be mindful of the external appearance of patients with this syndrome and be aware of life-threatening anomalies possibly associated with it.

Current knowledge on esophageal atresia

Esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) is the most common congenital anomaly of the esophagus. The improvement of survival observed over the previous two decades is multifactorial and largely attributable to advances in neonatal intensive care, neonatal anesthesia, ventilatory and nutritional support, antibiotics, early surgical intervention, surgical materials and techniques. Indeed, mortality is currently limited to those cases with coexisting severe life-threatening anomalies. The diagnosis of EA is most commonly made during the first 24 h of life but may occur either antenatally or may be delayed. The primary surgical correction for EA and TEF is the best option in the absence of severe malformations. There is no ideal replacement for the esophagus and the optimal surgical treatment for patients with long-gap EA is still controversial. The primary complications during the postoperative period are leak and stenosis of the anastomosis, gastro-esophageal reflux, esophageal dysmotility, fistula recurrence, respiratory disorders and deformities of the thoracic wall. Data regarding long-term outcomes and follow-ups are limited for patients following EA/TEF repair. The determination of the risk factors for the complicated evolution following EA/TEF repair may positively impact long-term prognoses. Much remains to be studied regarding this condition. This manuscript provides a literature review of the current knowledge regarding EA.

Constipation in a 7-year-old Boy: Congenital Band Causing a Strangulated Small Bowel and Pulseless Electrical Activity

BackgroundConstipation in pediatric patients is a common diagnosis in the emergency department (ED) and may occasionally arise from a significant underlying illness. ObjectiveTo discuss a rare cause of constipation that led to a strangulated small bowel and cardiac arrest. Case ReportA 7-year-old boy presented in pulseless electrical activity. The patient had been seen in the ED 2 days prior with the complaint of abdominal pain, which was diagnosed as constipation. The boy had emigrated from Mexico 18 months earlier. The patient was resuscitated in the ED and taken emergently to the operating room. During surgery he was discovered to have a congenital abdominal adhesive band that led to a strangulated small bowel. He suffered subsequent multi-organ failure, including hypoxic ischemic encephalopathy, and was hospitalized for 5 months. One month after discharge he was improving and being followed by multiple providers. ConclusionCongenital adhesive bands, although rare, may be life-threatening anomalies. We present this case to increase awareness of this condition among emergency physicians.

Medical ethics and the faith factor: a handbook for clergy and health-care professionals

Clinical ethics is a relatively new discipline within medicine, generated not so much by the -Can we . . . ?- questions of fact and prognosis that physicians usually address, but primarily by the more uncomfortable gray areas having to do with -Should we . . . ?- questions: Should we use a feeding tube for Mom? How should we deal with our baby about to be born with life-threatening anomalies? Should our son be taken off dialysis, even though he'll die without it? What should we do with our mentally ill sister, who has proven that she is untreatable? In this book Robert Orr draws on his extensive medical knowledge and experience to offer a wealth of guidance regarding real-life dilemmas in clinical ethics. Replete with instructive case studies, Medical Ethics and the Faith Factor is an invaluable resource that reintroduces the human element to a discussion so often detached from the very people it claims to concern.