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1.
Am J Obstet Gynecol ; 2024 Jun 30.
Article in English | MEDLINE | ID: mdl-38955324

ABSTRACT

Obstetric hemorrhage is a leading cause of maternal morbidity and mortality. An important etiology of obstetric hemorrhage is placenta accreta spectrum. In the last two decades, there has been increased clinical experience of the devastating effect of undiagnosed, as well as late diagnosed, cases of Cesarean scar pregnancy. There is a growing body of evidence suggesting that Cesarean scar pregnancy is an early precursor of second- and third-trimester placenta accreta spectrum. As such, Cesarean scar pregnancy should be diagnosed in the early first trimester. This early diagnosis could be achieved by introducing regimented sonographic screening in pregnancies of patients with previous Cesarean delivery. This Opinion article evaluates the scientific and clinical basis of whether Cesarean scar pregnancy, with special focus on its early first-trimester discovery, complies with the accepted requirements of a screening test. Each of the 10 classical screening criteria of Wilson and Jungner were systematically applied to evaluate if the criteria were met by Cesarean scar pregnancy, to analyze if it is possible and realistic to carry out screening in a population-wide fashion.

2.
Am J Obstet Gynecol ; 2023 Oct 21.
Article in English | MEDLINE | ID: mdl-37865390

ABSTRACT

BACKGROUND: A cesarean scar pregnancy is an iatrogenic consequence of a previous cesarean delivery. The gestational sac implants into a niche created by the incision of the previous cesarean delivery, and this carries a substantial risk for major maternal complications. The aim of this study was to report, analyze, and compare the effectiveness and safety of different treatments options for cesarean scar pregnancies managed in the first trimester through a registry. OBJECTIVE: This study aimed to evaluated the ultrasound findings, disease behavior, and management of first-trimester cesarean scar pregnancies. STUDY DESIGN: We created an international registry of cesarean scar pregnancy cases to study the ultrasound findings, disease behavior, and management of cesarean scar pregnancies. The Cesarean Scar Pregnancy Registry collects anonymized ultrasound and clinical data of individual patients with a cesarean scar pregnancy on a secure, digital information platform. Cases were uploaded by 31 participating centers across 19 countries. In this study, we only included live and failing cesarean scar pregnancies (with or without a positive fetal heart beat) that received active treatment (medical or surgical) before 12+6 weeks' gestation to evaluate the effectiveness and safety of the different management options. Patients managed expectantly were not included in this study and will be reported separately. Treatment was classified as successful if it led to a complete resolution of the pregnancy without the need for any additional medical interventions. RESULTS: Between August 29, 2018, and February 28, 2023, we recorded 460 patients with cesarean scar pregnancies (281 live, 179 failing cesarean scar pregnancy) who fulfilled the inclusion criteria and were registered. A total of 270 of 460 (58.7%) patients were managed surgically, 123 of 460 (26.7%) patients underwent medical management, 46 of 460 (10%) patients underwent balloon management, and 21 of 460 (4.6%) patients received other, less frequently used treatment options. Suction evacuation was very effective with a success rate of 202 of 221 (91.5%; 95% confidence interval, 87.8-95.2), whereas systemic methotrexate was least effective with only 38 of 64 (59.4%; 95% confidence interval, 48.4-70.4) patients not requiring additional treatment. Overall, surgical treatment of cesarean scar pregnancies was successful in 236 of 258 (91.5%, 95% confidence interval, 88.4-94.5) patients and complications were observed in 24 of 258 patients (9.3%; 95% confidence interval, 6.6-11.9). CONCLUSION: A cesarean scar pregnancy can be managed effectively in the first trimester of pregnancy in more than 90% of cases with either suction evacuation, balloon treatment, or surgical excision. The effectiveness of all treatment options decreases with advancing gestational age, and cesarean scar pregnancies should be treated as early as possible after confirmation of the diagnosis. Local medical treatment with potassium chloride or methotrexate is less efficient and has higher rates of complications than the other treatment options. Systemic methotrexate has a substantial risk of failing and a higher complication rate and should not be recommended as first-line treatment.

3.
Int J Mol Sci ; 23(19)2022 Oct 06.
Article in English | MEDLINE | ID: mdl-36233161

ABSTRACT

Our clinical series comprises 124 patients with movement disorders (MDs) and/or ataxia with cerebellar atrophy (CA), many of them showing signs of neurodegeneration with brain iron accumulation (NBIA). Ten NBIA genes are accepted, although isolated cases compatible with abnormal brain iron deposits are known. The patients were evaluated using standardised clinical assessments of ataxia and MDs. First, NBIA genes were analysed by Sanger sequencing and 59 patients achieved a diagnosis, including the detection of the founder mutation PANK2 p.T528M in Romani people. Then, we used a custom panel MovDisord and/or exome sequencing; 29 cases were solved with a great genetic heterogeneity (34 different mutations in 23 genes). Three patients presented brain iron deposits with Fe-sensitive MRI sequences and mutations in FBXO7, GLB1, and KIF1A, suggesting an NBIA-like phenotype. Eleven patients showed very early-onset ataxia and CA with cortical hyperintensities caused by mutations in ITPR1, KIF1A, SPTBN2, PLA2G6, PMPCA, and PRDX3. The novel variants were investigated by structural modelling, luciferase analysis, transcript/minigenes studies, or immunofluorescence assays. Our findings expand the phenotypes and the genetics of MDs and ataxias with early-onset CA and cortical hyperintensities and highlight that the abnormal brain iron accumulation or early cerebellar gliosis may resembling an NBIA phenotype.


Subject(s)
Movement Disorders , Neurodegenerative Diseases , Ataxia/genetics , Brain , Humans , Iron , Kinesins , Mutation , Neurodegenerative Diseases/genetics , Phenotype , Phosphotransferases (Alcohol Group Acceptor)/genetics
4.
Eur J Neurol ; 28(4): 1334-1343, 2021 04.
Article in English | MEDLINE | ID: mdl-33369814

ABSTRACT

BACKGROUND AND PURPOSE: Distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of disorders characterized by degeneration of the motor component of peripheral nerves. Currently, only 15% to 32.5% of patients with dHMN are characterized genetically. Additionally, the prevalence of these genetic disorders is not well known. Recently, biallelic mutations in the sorbitol dehydrogenase gene (SORD) have been identified as a cause of dHMN, with an estimated frequency in undiagnosed cases of up to 10%. METHODS: In the present study, we included 163 patients belonging to 108 different families who were diagnosed with a dHMN and who underwent a thorough genetic screening that included next-generation sequencing and subsequent Sanger sequencing of SORD. RESULTS: Most probands were sporadic cases (62.3%), and the most frequent age of onset of symptoms was 2 to 10 years (28.8%). A genetic diagnosis was achieved in 37/108 (34.2%) families and 78/163 (47.8%) of all patients. The most frequent cause of distal hereditary motor neuropathies were mutations in HSPB1 (10.4%), GARS1 (9.8%), BICD2 (8.0%), and DNAJB2 (6.7%) genes. In addition, 3.1% of patients were found to be carriers of biallelic mutations in SORD. Mutations in another seven genes were also identified, although they were much less frequent. Eight new pathogenic mutations were detected, and 17 patients without a definite genetic diagnosis carried variants of uncertain significance. The calculated minimum prevalence of dHMN was 2.3 per 100,000 individuals. CONCLUSIONS: This study confirms the genetic heterogeneity of dHMN and that biallelic SORD mutations are a cause of dHMN in different populations.


Subject(s)
Charcot-Marie-Tooth Disease , Hereditary Sensory and Motor Neuropathy , Charcot-Marie-Tooth Disease/genetics , Child , Child, Preschool , Genetic Association Studies , Genetic Testing , HSP40 Heat-Shock Proteins , Heterozygote , Humans , Molecular Chaperones , Mutation
5.
J Ultrasound Med ; 40(3): 607-619, 2021 Mar.
Article in English | MEDLINE | ID: mdl-32827325

ABSTRACT

Two-dimensional transvaginal and transabdominal ultrasound (US) examinations are the suggested methods for examining the uterus. Three-dimensional (3D) US, which is not compulsory by society guidelines, provides additional uterine views, reassuring users of pathologic conditions not evident on customary sagittal and transverse views. The 3D coronal plane is rarely seen by 2-dimensional US transducers, let alone in extremely retroverted or axial uteri. Ultrasound machines nowadays feature 3D US capability. Our experience is that the coronal uterine view is a problem solver, helping diagnostic abilities of pelvic imaging. We advocate its liberal use and its acquisition in every pelvic scan. In this Pictorial Essay we present examples to demonstrate its use.


Subject(s)
Imaging, Three-Dimensional , Uterus , Female , Humans , Physical Examination , Ultrasonography , Uterus/diagnostic imaging
6.
Int J Mol Sci ; 22(5)2021 Mar 02.
Article in English | MEDLINE | ID: mdl-33801522

ABSTRACT

(1) Background: A non-progressive congenital ataxia (NPCA) phenotype caused by ß-III spectrin (SPTBN2) mutations has emerged, mimicking spinocerebellar ataxia, autosomal recessive type 14 (SCAR14). The pattern of inheritance, however, resembles that of autosomal dominant classical spinocerebellar ataxia type 5 (SCA5). (2) Methods: In-depth phenotyping of two boys studied by a customized gene panel. Candidate variants were sought by structural modeling and protein expression. An extensive review of the literature was conducted in order to better characterize the SPTBN2-associated NPCA. (3) Results: Patients exhibited an NPCA with hypotonia, developmental delay, cerebellar syndrome, and cognitive deficits. Both probands presented with progressive global cerebellar volume loss in consecutive cerebral magnetic resonance imaging studies, characterized by decreasing midsagittal vermis relative diameter measurements. Cortical hyperintensities were observed on fluid-attenuated inversion recovery (FLAIR) images, suggesting a neurodegenerative process. Each patient carried a novel de novo SPTBN2 substitution: c.193A > G (p.K65E) or c.764A > G (p.D255G). Modeling and protein expression revealed that both mutations might be deleterious. (4) Conclusions: The reported findings contribute to a better understanding of the SPTBN2-associated phenotype. The mutations may preclude proper structural organization of the actin spectrin-based membrane skeleton, which, in turn, is responsible for the underlying disease mechanism.


Subject(s)
Cerebellar Ataxia/pathology , Mutation , Neurodegenerative Diseases/pathology , Spectrin/genetics , Age of Onset , Amino Acid Sequence , Cerebellar Ataxia/complications , Cerebellar Ataxia/congenital , Cerebellar Ataxia/genetics , Child , Cohort Studies , Genetic Association Studies , Humans , Male , Neurodegenerative Diseases/complications , Neurodegenerative Diseases/genetics , Neuroimaging , Phenotype , Protein Conformation , Sequence Homology , Spectrin/chemistry , Spectrin/metabolism , Syndrome
7.
Clin Genet ; 97(5): 758-763, 2020 05.
Article in English | MEDLINE | ID: mdl-32043565

ABSTRACT

Wilson's disease (WD) is an autosomal recessive disorder caused by ATP7B mutations. Subjects with only one mutation may show clinical signs and individuals with biallelic changes may remain asymptomatic. We aimed to achieve a conclusive genetic diagnosis for 34 patients clinically diagnosed of WD. Genetic analysis comprised from analysis of exons to WES (whole exome sequencing), including promoter, introns, UTRs (untranslated regions), besides of study of large deletions/duplications by MLPA (multiplex ligation-dependent probe amplification). Biallelic ATP7B mutations were identified in 30 patients, so that four patients were analyzed using WES. Two affected siblings resulted to be compound heterozygous for mutations in CCDC115, which is involved in a form of congenital disorder of glycosylation. In sum, the majority of patients with a WD phenotype carry ATP7B mutations. However, if genetic diagnosis is not achieved, additional genes should be considered because other disorders may mimic WD.


Subject(s)
Copper-Transporting ATPases/genetics , Genetic Predisposition to Disease , Hepatolenticular Degeneration/genetics , Nerve Tissue Proteins/genetics , Adult , Exons/genetics , Female , Genetic Testing , Hepatolenticular Degeneration/diagnosis , Hepatolenticular Degeneration/pathology , Humans , Male , Mutation/genetics , Phenotype , Spain/epidemiology , Exome Sequencing
8.
Acta Obstet Gynecol Scand ; 99(10): 1278-1289, 2020 10.
Article in English | MEDLINE | ID: mdl-32419158

ABSTRACT

INTRODUCTION: To evaluate subsequent reproductive among women with a prior cesarean scar pregnancy (CSP). MATERIAL AND METHODS: MEDLINE, Embase and ClinicalTrials.gov databases were searched. Inclusion criteria were women with a prior CSP, defined as the gestational sac or trophoblast within the dehiscence/niche of the previous cesarean section scar or implanted on top of it. The primary outcome was the recurrence of CSP; secondary outcomes were the chance of achieving a pregnancy after CSP, miscarriage, preterm birth, uterine rupture and the occurrence of placenta accreta spectrum disorders. Subgroup analysis according to the management of CSP (surgical vs non-surgical) was also performed. Random effect meta-analyses of proportions were used to analyze the data. RESULTS: Forty-four studies (3598 women with CSP) were included. CSP recurred in 17.6% of women. Miscarriage, preterm birth and placenta accreta spectrum disorders complicated 19.1% (65/341), 10.3% (25/243) and 4.0% of pregnancies, and 67.0% were uncomplicated. When stratifying the analysis according to the type of management, CSP recurred in 21% of women undergoing surgical and in 15.2% of those undergoing non-surgical management. Placenta accreta spectrum disorders complicated 4.0% and 12.0% of cases, respectively. CONCLUSIONS: Women with a prior CSP are at high risk of recurrence, miscarriage, preterm birth and placenta accreta spectrum. There is still insufficient evidence to elucidate whether the type of management adopted (surgical vs non-surgical) can impact reproductive outcome after CSP. Further large, prospective studies sharing an objective protocol of prenatal management and long-term follow up are needed to establish the optimal management of CSP and to elucidate whether it may affect its risk of recurrence and pregnancy outcome in subsequent gestations.


Subject(s)
Cesarean Section/adverse effects , Cicatrix/complications , Pregnancy, Ectopic , Abortion, Spontaneous , Female , Humans , Placenta Accreta , Pregnancy , Premature Birth , Recurrence
9.
J Med Genet ; 55(12): 814-823, 2018 12.
Article in English | MEDLINE | ID: mdl-30415211

ABSTRACT

BACKGROUND: Mutations in the metalloendopeptidase (MME) gene were initially identified as a cause of autosomal recessive Charcot-Marie-Tooth disease type 2 (CMT2). Subsequently, variants in MME were linked to other late-onset autosomal dominant polyneuropathies. Thus, our goal was to define the phenotype and mode of inheritance of patients carrying changes in MME. METHODS: We screened 197 index cases with a hereditary neuropathy of the CMT type or distal hereditary motor neuropathy (dHMN) and 10 probands with familial amyotrophic lateral sclerosis (fALS) using a custom panel of 119 genes. In addition to the index case subjects, we also studied other clinically and/or genetically affected and unaffected family members. RESULTS: We found 17 variants in MME in a total of 20 index cases, with biallelic MME mutations detected in 13 cases from nine families (three in homozygosis and six in compound heterozygosis) and heterozygous variants found in 11 families. All patients with biallelic variants had a similar phenotype, consistent with late-onset axonal neuropathy. Conversely, the phenotype of patients carrying heterozygous mutations was highly variable [CMT type 1 (CMT1), CMT2, dHMN and fALS] and mutations did not segregate with the disease. CONCLUSION: MME mutations that segregate in an autosomal recessive pattern are associated with a late-onset CMT2 phenotype, yet we could not demonstrate that MME variants in heterozygosis cause neuropathy. Our data highlight the importance of establishing an accurate genetic diagnosis in patients carrying MME mutations, especially with a view to genetic counselling.


Subject(s)
Genetic Association Studies , Inheritance Patterns , Metalloendopeptidases/genetics , Mutation , Peripheral Nervous System Diseases/diagnosis , Peripheral Nervous System Diseases/genetics , Phenotype , Adult , Aged , Alleles , Amino Acid Substitution , Electromyography , Electrophysiological Phenomena , Female , Gene Frequency , Genes, Recessive , Genotype , Humans , Magnetic Resonance Imaging , Male , Metalloendopeptidases/metabolism , Middle Aged , Pedigree
10.
J Ultrasound Med ; 38(11): 2973-2978, 2019 Nov.
Article in English | MEDLINE | ID: mdl-30927305

ABSTRACT

OBJECTIVES: Cystadenofibromas (CAFs) are rare benign ovarian tumors without a widely accepted ultrasound (US) pattern. They are usually described by as thin-walled, unilocular or multilocular, and at times septated cysts with scant blood flow and no solid components. We describe a unique US feature, the "shadow sign," seen in prospectively diagnosed benign CAFs. We also provide the histopathologic basis for this typical US appearance. METHODS: Ultrasound (US) examinations were performed in our obstetric and gynecologic US unit. Pathologic examinations were performed by a dedicated gynecologic pathology team. The US and pathology department's database was searched for the diagnosis of a CAF between 2010 and 2017. RESULTS: We identified 20 patients who underwent transvaginal US examinations with a sole US diagnosis of a CAF, and the tumors were surgically removed. The common US feature across the 20 cases was the presence of hyperechoic avascular shadowing nodules. The correlating histologic features were unilocular or multilocular cysts with a smooth internal wall surface lined by a simple epithelium and occasional robust polypoid fibrous stroma. CONCLUSIONS: This US marker helps in differentiating CAFs from borderline ovarian tumors, which do not show this US feature. We hope that recognizing the suggested shadow sign as an additional descriptor of CAFs will lead to minimizing their unnecessary removal and eliminating additional and unnecessary imaging by computed tomography and magnetic resonance imaging.


Subject(s)
Cystadenofibroma/diagnostic imaging , Cystadenofibroma/pathology , Ovarian Neoplasms/diagnostic imaging , Ovarian Neoplasms/pathology , Ultrasonography/methods , Diagnosis, Differential , Female , Humans , Ovary/diagnostic imaging , Ovary/pathology , Retrospective Studies
11.
J Ultrasound Med ; 38(3): 785-793, 2019 Mar.
Article in English | MEDLINE | ID: mdl-30099757

ABSTRACT

The efficacy of treating cesarean scar pregnancies and cervical pregnancies with the Cook® cervical ripening balloon catheter, in a multicenter office-based setting is reported. Thirty-eight women were treated. Insertion of the catheter was performed under real-time ultrasound guidance. Patients received adjuvant systemic methotrexate, prophylactic oral antibiotics, and oral pain medication. Serum human chorionic gonadotropin and ultrasound scans were followed serially until resolution. Thirty-seven patients were successfully treated, requiring no further procedures. We found that the Cook cervical ripening balloon technique is a simple, effective, outpatient, minimally invasive treatment with few complications noted in this expanded series.


Subject(s)
Catheterization/instrumentation , Cervical Ripening/physiology , Pregnancy, Ectopic/therapy , Ultrasonography, Interventional/methods , Adult , Cervix Uteri/diagnostic imaging , Cesarean Section , Cicatrix , Female , Humans , Pregnancy , Retrospective Studies , Treatment Outcome
12.
Am J Obstet Gynecol ; 219(1): B2-B9, 2018 07.
Article in English | MEDLINE | ID: mdl-29705191

ABSTRACT

Ventriculomegaly is defined as dilation of the fetal cerebral ventricles and is a relatively common finding on prenatal ultrasound. The purpose of this document is to review the diagnosis, evaluation, and management of mild fetal ventriculomegaly. When enlargement of the lateral ventricles (≥10 mm) is identified, a thorough evaluation should be performed, including detailed sonographic evaluation of fetal anatomy, amniocentesis for karyotype and chromosomal microarray analysis, and a workup for fetal infection. In some cases, fetal magnetic resonance imaging may identify other central nervous system abnormalities and should be considered when this technology as well as expert interpretation is available. Follow-up ultrasound examination should be performed to assess for progression of the ventricular dilation. In the setting of isolated ventriculomegaly of 10-12 mm, the likelihood of survival with normal neurodevelopment is >90%. With moderate ventriculomegaly (13-15 mm), the likelihood of normal neurodevelopment is 75-93%. The following are Society for Maternal-Fetal Medicine recommendations: We suggest that ventriculomegaly be characterized as mild (10-12 mm), moderate (13-15 mm), or severe (>15 mm) for the purposes of patient counseling, given that the chance of an adverse outcome and potential for other abnormalities are higher when the ventricles measure 13-15 mm vs 10-12 mm (GRADE 2B); we recommend that diagnostic testing (amniocentesis) with chromosomal microarray analysis should be offered when ventriculomegaly is detected (GRADE 1B); we recommend testing for cytomegalovirus and toxoplasmosis when ventriculomegaly is detected, regardless of known exposure or symptoms (GRADE 1B); we suggest that magnetic resonance imaging be considered in cases of mild or moderate fetal ventriculomegaly when this modality and expert radiologic interpretation are available; magnetic resonance imaging is likely to be of less value if the patient has had a detailed ultrasound performed by an individual with specific experience and expertise in sonographic imaging of the fetal brain (GRADE 2B); we recommend that timing and mode of delivery be based on standard obstetric indications (GRADE 1C); we recommend that with isolated mild ventriculomegaly of 10-12 mm, after a complete evaluation, women be counseled that the outcome is favorable, and the infant is likely to be normal (GRADE 1B); we recommend that with isolated moderate ventriculomegaly of 13-15 mm, after a complete evaluation, women be counseled that the outcome is likely to be favorable but that there is an increased risk of neurodevelopmental disabilities (GRADE 1B).


Subject(s)
Amniocentesis , Cerebral Ventricles/diagnostic imaging , Hydrocephalus/diagnostic imaging , Infections/diagnosis , Karyotyping , Counseling , Disease Management , Evidence-Based Medicine , Female , Humans , Hydrocephalus/diagnosis , Hydrocephalus/genetics , Hydrocephalus/therapy , Magnetic Resonance Imaging , Microarray Analysis , Perinatology , Pregnancy , Prognosis , Severity of Illness Index , Ultrasonography, Prenatal
13.
J Ultrasound Med ; 37(5): 1179-1183, 2018 May.
Article in English | MEDLINE | ID: mdl-29076539

ABSTRACT

OBJECTIVES: To assess whether cesarean delivery changes the natural position of the uterus. METHODS: In this retrospective Institutional Review Board-approved cohort study, we conducted a search of our university gynecologic ultrasonography (US) database. Patients with transvaginal US images before and after either vaginal or cesarean delivery between 2012 and 2015 were included. Women with prior cesarean delivery were excluded. Two readers independently measured antepartum and postpartum flexion angles between the longitudinal axis of the uterine body and the cervix. We calculated intraclass correlation coefficients to measure inter-reader agreement. Antepartum and postpartum uterine flexion angles were compared between patients with vaginal and cesarean delivery. RESULTS: We included 173 patients (107 vaginal and 66 cesarean delivery). The mean interval between scans ± SD was 18 ± 10 months. Inter-reader agreement for flexion angles was almost perfect (intraclass correlation coefficients: antepartum, 0.939; postpartum, 0.969; both P < .001). There was no difference in mean antepartum flexion angles for cesarean delivery (154.8° ± 45.7°) versus vaginal delivery (145.8° ± 43.7°; P = .216). Mean postpartum flexion angles were higher after cesarean delivery (180.4° ± 51.2°) versus vaginal delivery (152.8° ± 47.7°; P = .001. Differences in antepartum and postpartum flexion angles between cesarean and vaginal delivery were statistically significant (25.6° versus 7.0°; P = .027). CONCLUSIONS: Cesarean delivery can change the uterine flexion angle to a more retroflexed position. Therefore, all women with a history of cesarean delivery should undergo a transvaginal US examination before any gynecologic surgery or intrauterine device placement to reduce the possibility of surgical complications.


Subject(s)
Cesarean Section , Ultrasonography/methods , Uterus/anatomy & histology , Uterus/diagnostic imaging , Adult , Cohort Studies , Delivery, Obstetric/methods , Female , Humans , Retrospective Studies , Vagina/anatomy & histology , Vagina/diagnostic imaging
14.
Neurogenetics ; 18(4): 245-250, 2017 Dec.
Article in English | MEDLINE | ID: mdl-28975462

ABSTRACT

In two siblings, who suffer from an early childhood-onset axonal polyneuropathy with exclusive involvement of motor fibers, the c.629T>C (p.F210S) mutation was identified in the X-linked AIFM1 gene, which encodes for the apoptosis-inducing factor (AIF). The mutation was predicted as deleterious, according to in silico analysis. A decreased expression of the AIF protein, altered cellular morphology, and a fragmented mitochondrial network were observed in the proband's fibroblasts. This new form of motor neuropathy expands the phenotypic spectrum of AIFM1 mutations and therefore, the AIFM1 gene should be considered in the diagnosis of hereditary motor neuropathies.


Subject(s)
Apoptosis Inducing Factor/genetics , Muscular Atrophy, Spinal/genetics , Mutation/genetics , Female , Genes, X-Linked/genetics , Humans , Infant , Male , Muscular Atrophy, Spinal/diagnosis , Pedigree , Phenotype , Proteins/genetics
15.
Am J Obstet Gynecol ; 216(5): 510.e1-510.e6, 2017 05.
Article in English | MEDLINE | ID: mdl-28115056

ABSTRACT

BACKGROUND: The term cesarean scar pregnancy refers to placental implantation within the scar of a previous cesarean delivery. The rising numbers of cesarean deliveries in the last decades have led to an increased incidence of cesarean scar pregnancy. Complications of cesarean scar pregnancy include morbidly adherent placenta, uterine rupture, severe hemorrhage, and preterm labor. It is suspected that cesarean scar pregnancies that are implanted within a dehiscent scar ("niche") behave differently compared with those implanted on top of a well-healed scar. To date there are no studies that have compared pregnancy outcomes between cesarean scar pregnancies implanted either "on the scar" or "in the niche." OBJECTIVES: The purpose of this study was to determine the pregnancy outcome of cesarean scar pregnancy implanted either "on the scar" or "in the niche." STUDY DESIGN: This was a retrospective 2-center study of 17 patients with cesarean scar pregnancy that was diagnosed from 5-9 weeks gestation (median, 8 weeks). All cesarean scar pregnancies were categorized as either implanted or "on the scar" (group A) or "in the niche" (group B), based on their first-trimester transvaginal ultrasound examination. Clinical outcomes based on gestational age at delivery, mode of delivery, blood loss at delivery, neonate weight and placental histopathologic condition were compared between the groups with the use of the Mann-Whitney U test. Myometrial thickness overlying the placenta was compared among all the patients who required hysterectomy and those who did not with the use of the Mann-Whitney U test. Myometrial thickness was also correlated with gestational age at delivery with the use of Spearman's correlation. RESULTS: Group A consisted of 6 patients; group B consisted of 11 patients. Gestational age at delivery was lower in group B (median, 34 weeks; range, 20-36 weeks) than in group A (median, 38 weeks; range, 37-39 weeks; P=.001). In group A, 5 patients were delivered via cesarean delivery (with normal placenta), and 1 patient underwent a cesarean-hysterectomy for placenta accreta. In group B, 10 patients had a cesarean-hysterectomy for placenta increta/percreta, and 1 patient underwent gravid-hysterectomy for vaginal bleeding at 20 weeks gestation. Blood loss was increased, but not significantly higher in group B (median, 1200 mL; range, 600-4000 mL) than in group A (median, 700 mL; range, 600-1400 mL; P=.117). Myometrium was statistically significantly thinner in the patients group that require hysterectomy (median, 1 mm; range, 0-2 mm) than in the group that did not (median, 5 mm; range, 4-9 mm; P=.001). Myometrial thickness showed a positive correlation with the gestational age (r=0.820; P<.0005). CONCLUSION: Patients with cesarean scar pregnancy implanted "on the scar" had a substantially better outcome compared with patients in whom the cesarean scar pregnancy implanted "in the niche." Myometrial thickness <2 mm in the first-trimester ultrasound examination is associated with morbidly adherent placenta at delivery.


Subject(s)
Cesarean Section , Cicatrix/complications , Placenta Accreta/etiology , Adult , Birth Weight , Cesarean Section/adverse effects , Cesarean Section/statistics & numerical data , Female , Gestational Age , Humans , Hysterectomy/statistics & numerical data , Infant, Newborn , Myometrium/anatomy & histology , Myometrium/diagnostic imaging , Placenta Accreta/surgery , Pregnancy , Pregnancy Trimester, First , Retrospective Studies , Ultrasonography, Doppler , Ultrasonography, Prenatal , Young Adult
16.
Clin Obstet Gynecol ; 60(3): 586-595, 2017 09.
Article in English | MEDLINE | ID: mdl-28742592

ABSTRACT

Cesarean scar pregnancy and cervical pregnancy are 2 relatively rare types of abnormally implanted pregnancies. Both if unrecognized can result in significant morbidity to the patient. The most important issue regarding cesarean scar pregnancy and cervical pregnancy is to establish the diagnosis early in order for the patient to be adequately counseled and appropriate management carried out. For both of these conditions early detection and treatment can result in preservation of fertility.


Subject(s)
Cesarean Section/adverse effects , Cicatrix/complications , Pregnancy, Ectopic , Female , Fertility , Humans , Pregnancy , Pregnancy Outcome , Pregnancy, Heterotopic
17.
Clin Obstet Gynecol ; 60(1): 46-57, 2017 03.
Article in English | MEDLINE | ID: mdl-28005596

ABSTRACT

Ultrasound is considered the first-line imaging modality in the evaluation of the fallopian tubes. This chapter reviews both the physiologic and pathologic sonographic findings of the fallopian tubes and how to recognize characteristic entities. Specifically, it describes how to use ultrasound techniques to distinguish between pathologic processes including chronic versus acute pelvic inflammatory disease, as well as infertility, torsion, and malignancy. It also describes how to employ modern ultrasound techniques, such as color Doppler, three-dimensional imaging, and salpingocentesis in clinical practice.


Subject(s)
Fallopian Tube Diseases/diagnostic imaging , Fallopian Tubes/diagnostic imaging , Imaging, Three-Dimensional , Infertility, Female/diagnosis , Pelvic Inflammatory Disease/diagnostic imaging , Ultrasonography/methods , Animals , Female , Humans , Hysterosalpingography , Infertility, Female/diagnostic imaging , Ultrasonography, Doppler, Color
18.
Am J Obstet Gynecol ; 214(6): 731.e1-731.e10, 2016 06.
Article in English | MEDLINE | ID: mdl-26873276

ABSTRACT

BACKGROUND: Arteriovenous malformation is a short circuit between an organ's arterial and venous circulation. Arteriovenous malformations are classified as congenital and acquired. In the uterus, they may appear after curettage, cesarean delivery, and myomectomy among others. Their clinical feature is usually vaginal bleeding, which may be severe, if curettage is performed in unrecognized cases. Sonographically on 2-dimensional grayscale ultrasound scanning, the pathologic evidence appears as irregular, anechoic, tortuous, tubular structures that show evidence of increased vascularity when color Doppler is applied. Most of the time they resolve spontaneously; however, if left untreated, they may require involved treatments such as uterine artery embolization or hysterectomy. In the past, uterine artery angiography was the gold standard for the diagnosis; however, ultrasound scanning has diagnosed successfully and helped in the clinical management. Recently, arteriovenous malformations have been referred to as enhanced myometrial vascularities. OBJECTIVES: The purpose of this study was to evaluate the role of transvaginal ultrasound scanning in the diagnosis and treatment of acquired enhanced myometrial vascularity/arteriovenous malformations to outline the natural history of conservatively followed vs treated lesions. METHODS: This was a retrospective study to assess the presentation, treatment, and clinical pictures of patients with uterine Enhanced myometrial vascularity/arteriovenous malformations that were diagnosed with transvaginal ultrasound scanning. We reviewed both (1) ultrasound data (images, measured dimensions, and Doppler blood flow that were defined by its peak systolic velocity and (2) clinical data (age, reproductive status, clinical presentation, inciting event or procedure, surgical history, clinical course, time intervals that included detection to resolution or detection to treatment, and treatment rendered). The diagnostic criteria were "subjective" with a rich vascular network in the myometrium with the use of color Doppler images and "objective" with a high peak systolic velocity of ≥20 cm/sec in the vascular web. Statistical analysis was performed and coded with statistical software where necessary. RESULTS: Twenty-seven patients met the diagnostic criteria of uterine enhanced myometrial vascularity/arteriovenous malformation. Mean age was 31.8 years (range, 18-42 years). Clinical diagnoses of the patients included 10 incomplete abortions, 6 missed abortions, 5 spontaneous complete abortions, 5 cesarean scar pregnancies, and 1 molar pregnancy. Eighty-nine percent of patients had bleeding (n = 24/27), although 1 patient was febrile, and 2 patients were asymptomatic. Recent surgical procedures were performed in 55.5% patients (15/27) that included curettage (n = 10), cesarean deliveries (n = 5), or both (n = 1); 4 patients had a remote history of uterine surgery that included myomectomy. Treatment was varied and included expectant treatment alone in 48% of the patients with serial ultrasound scans and serum human chorionic gonadotropin until resolution (n = 13/27 patients), uterine artery embolization (29.6%; 8/27 patients), methotrexate administration (22.2%; 6/27 patients), hysterectomy (7.4%; 2/27 patients), and curettage (3.7%; 1/27 patients). Three patients required a blood transfusion. Of the 9 patients whose condition required embolization, the conditions of 7 patients resolved after the procedure although 1 patient's condition required operative hysteroscopy and 1 patient's condition required hysterectomy for intractable bleeding. Average peak systolic velocity after embolization in the 9 patients was 85.2 cm/sec (range, 35-170 cm/sec); the average peak systolic velocity of the 16 patients with spontaneous resolution was 58.5 cm/sec (range, 23-90 cm/sec). CONCLUSIONS: Acquired enhanced myometrial vascularity/arteriovenous malformations occurred after unsuccessful pregnancies or treatment procedures that included uterine curettage, cesarean delivery, or cesarean scar pregnancy. Triage of patients for expectant treatment vs intervention with uterine artery embolization based on their clinical status, which was supplemented by objective measurements of blood velocity measurement in the arteriovenous malformation, appears to be a good predictor of outcome. Ultrasound evaluation of patients with early pregnancy failure and persistent bleeding should be considered for evaluation of a possible enhanced myometrial vascularity/arteriovenous malformation.


Subject(s)
Arteriovenous Malformations/diagnostic imaging , Arteriovenous Malformations/therapy , Myometrium/diagnostic imaging , Abortion, Incomplete , Abortion, Spontaneous , Adolescent , Adult , Arteriovenous Malformations/etiology , Blood Flow Velocity , Blood Transfusion/statistics & numerical data , Cesarean Section/adverse effects , Curettage/statistics & numerical data , Dilatation and Curettage/adverse effects , Female , Humans , Hydatidiform Mole/complications , Hysterectomy/statistics & numerical data , Methotrexate/therapeutic use , Myometrium/blood supply , Pregnancy , Retrospective Studies , Ultrasonography, Doppler, Color , Uterine Artery Embolization/statistics & numerical data , Uterine Hemorrhage/etiology , Young Adult
19.
Am J Obstet Gynecol ; 215(3): 351.e1-8, 2016 09.
Article in English | MEDLINE | ID: mdl-26979630

ABSTRACT

BACKGROUND: Cesarean scar pregnancy and cervical pregnancy are unrelated forms of pathological pregnancies carrying significant diagnostic and treatment challenges, with a wide range of treatment effectiveness and complication rates ranging from 10% to 62%. At times, life-saving hysterectomy and uterine artery embolization are required to treat complications. Based on our previous success with using a single-balloon catheter for the treatment of cesarean scar pregnancy after local injection of methotrexate, we evaluated the use of a double-balloon catheter to terminate the pregnancy while preventing bleeding without any additive treatment. This was a retrospective study. OBJECTIVES: The objective of the study was to describe the placement of a cervical ripening double-balloon catheter as a novel, minimally invasive treatment in patients with cesarean scar and cervical pregnancies to terminate the pregnancy and at the same time prevent bleeding by compressing the blood supply of the gestational sac. STUDY DESIGN: Patients with diagnosed, live cervical pregnancy and cesarean scar pregnancy between 6 and 8 weeks' gestation were considered for the office-based treatment. Paracervical block with 1% lidocaine was administered in 3 patients for pain control. Insertion of the catheter and inflation of the upper balloon were done under transabdominal ultrasound guidance. The lower (pressure) balloon was inflated opposite the gestational sac under transvaginal ultrasound guidance. After an hour, the area of the sac was scanned. When fetal cardiac activity was absent and no bleeding was noted, patients were discharged. After 2-3 days, a follow-up appointment was scheduled for possible catheter removal. Serial ultrasound (US) and serum human chorionic gonadotropin were followed weekly or as needed. RESULTS: Three live cervical pregnancies and 7 live cesarean scar pregnancies were successfully treated. Median gestational age at treatment was 6 6/7 weeks (range 6 1/7 through 7 4/7 weeks). Patients' acceptance for the double-balloon treatment was high in spite of the initial low abdominal pressure felt at the inflation of the balloons. All but 1 patient noted vaginal spotting at the follow-up appointment. Only 1 patient experienced bleeding of dark blood. The balloons were in place for a median of 3 days (range, 1-5 days). Median time from treatment to the total drop of human chorionic gonadotropin was 49 days (range, 28-97 days). CONCLUSION: The double balloon is a successful, minimally invasive and well-tolerated single treatment for cervical pregnancy and cesarean scar pregnancy. This simple treatment method has 4 main advantages: it effectively stops embryonic cardiac activity, prevents bleeding complications, does not require any additional invasive therapies, and is familiar to obstetricians-gynecologists who use the same cervical ripening catheters for labor induction. Its wider application, however, has to be validated on a larger patient population.


Subject(s)
Catheterization/methods , Catheters , Pregnancy, Ectopic/therapy , Anesthetics, Local/administration & dosage , Cesarean Section/adverse effects , Cicatrix , Female , Humans , Lidocaine/administration & dosage , Pregnancy , Retrospective Studies , Ultrasonography, Interventional , Uterine Hemorrhage/prevention & control
20.
Am J Obstet Gynecol ; 215(2): 225.e1-7, 2016 08.
Article in English | MEDLINE | ID: mdl-26899908

ABSTRACT

BACKGROUND: Cesarean scar pregnancy (CSP) is a serious complication of pregnancy, which consists of implantation of the gestational sac in the hysterotomy scar. This condition is increasing in frequency and often poses a diagnostic challenge. Its diagnosis is dependent on visual assessment of the uterus on the longitudinal sagittal ultrasound plane. Misdiagnosing a low intrauterine chorionic sac as a CSP, or a true scar pregnancy as an intrauterine pregnancy (IUP), may lead to adverse outcomes including hysterectomy. OBJECTIVE: The objective of the study is to describe a sonographic method for the differential diagnosis of CSP vs IUP in early gestation. The current study tests the hypothesis that on a first-trimester ultrasound performed between 5-10 weeks of gestation, the relative location of the center of gestational sac to the midpoint of the uterus along a longitudinal line between the external cervical os and the fundus can be used for early detection of CSPs. STUDY DESIGN: This is a retrospective review of electronically archived ultrasound images of IUP and CSP between 5-10 weeks of gestation. A total of 242 ultrasound images were analyzed: 185 cases of normal IUPs (including 128 in anteverted uteri, 31 in retroverted uteri, and 26 IUPs with history of cesarean delivery) and 57 cases of CSPs diagnosed from 2004 through 2015 in a single institution. The following measurements were made for each case: distance from the external cervical os to the uterine fundus, the midpoint axis of the uterus, the distance from the external cervical os to the center of gestational sacs, and the distance from the external cervical os to the most distant edge of the gestational sacs from the cervix. RESULTS: The location of the center of the gestational sac relative to the midpoint axis of the uterus between 5-10 weeks of gestation differentiated between IUP and CSP (mean 17.8 vs -10.6 mm, respectively, P = .0001), indicating that most CSPs are located proximally to the midpoint axis of the uterus whereas most normal IUPs are located distally from the midpoint of the uterus. Using location of the center of the gestational sac as a marker of CSPs between 5-10 weeks of gestation yielded the following characteristics of diagnostic accuracy: sensitivity 93.0% and specificity 98.9%. The likelihood ratio of the positive test was 84.5. The likelihood ratio of the negative test was 0.07. CONCLUSION: The location of the center of the gestational sac relative to the midpoint axis of the uterus can be used as an easy method for sonographic differentiation of IUP and CSP between 5-10 weeks of gestation.


Subject(s)
Cesarean Section/adverse effects , Cicatrix/diagnostic imaging , Pregnancy, Ectopic/diagnostic imaging , Ultrasonography, Prenatal , Uterus/diagnostic imaging , Adult , Cicatrix/etiology , Diagnosis, Differential , Female , Humans , Pregnancy , Pregnancy Trimester, First , Retrospective Studies
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