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1.
Prev Med ; : 108045, 2024 Jun 18.
Artículo en Inglés | MEDLINE | ID: mdl-38901741

RESUMEN

OBJECTIVE: To investigate the relationship between Body Mass Index (BMI) and adherence to recommended screening tests, addressing gaps in previous literature by utilizing a large cohort, while considering longitudinal changes in weight and the type of screening. METHODS: Data from Clalit Health Services in Israel were retrospectively analyzed, including participants aged 50 and above from 2002 to 2021. BMI measurements and various screening test records were examined. Generalized Estimating Equations were employed for analysis, adjusting for potential confounding variables, including age, gender, geographic location, and socioeconomic status. RESULTS: The study included 634,879 participants with 4,630,030 BMI measurements and 56,453,659 test records. Participants were categorized into BMI cohorts at the time of the test, with overweight and obese individuals showing lower odds of undergoing intimate examination-based screening tests (mammography, PAPS, and skin examination), as opposed to higher odds of several non-intimate tests (e.g., diabetes and eye disorder screenings). DISCUSSION: Our findings suggest that individuals with overweight and obesity are less likely to undergo screenings involving intimate physical examinations, potentially due to weight stigma and discomfort. This avoidance behavior may contribute to increased morbidity rates in these populations. Interventions addressing weight stigma, improving access to care, and enhancing patient engagement are warranted.

2.
Harefuah ; 163(6): 382-386, 2024 Jun.
Artículo en Hebreo | MEDLINE | ID: mdl-38884293

RESUMEN

INTRODUCTION: Weight stigma, or weight bias, refers to biased beliefs and negative opinions towards people with excess weight. This phenomenon manifests in prejudice and negative attitudes towards people with obesity, including disrespectful treatment, bullying, discrimination and even abuse, and leading to long-term negative consequences on physical and mental health. The purpose of the current review was to examine the relationship between gender and manifestations of weight stigma. Studies listed in this review show that the phenomenon of weight stigma is more common and severe among women, in numerous life areas, which include education, employment, the healthcare system, social media, sports industry, and interpersonal relationships. Possible reasons for such differences include the existing discrimination against women in various areas of life, and the emphasis on external appearance and the ideal of thinness, which relates mainly to women. In light of the serious consequences of weight stigma on public health and individual well-being, efforts must be made to prevent weight stigma, including the education of the general population, changing policies of healthcare, education and media systems, and legislation to prevent weight-based discrimination.


Asunto(s)
Obesidad , Estigma Social , Humanos , Obesidad/psicología , Femenino , Factores Sexuales , Masculino , Prejuicio/psicología , Sexismo/psicología , Peso Corporal , Prejuicio de Peso/psicología , Salud Pública , Discriminación Social/psicología , Relaciones Interpersonales
3.
Eur J Cancer Prev ; 2024 Jun 14.
Artículo en Inglés | MEDLINE | ID: mdl-38870036

RESUMEN

OBJECTIVE: To assess adherence to medical follow-up protocols among BRCA1/2 carriers and compare outcomes between dedicated carrier clinics and community healthcare settings. METHODS: This cross-sectional study was conducted by distributing an anonymous questionnaire within the 'Good BRCA Genes - Support and Information Group for BRCA Carriers' association. The questionnaire assessed adherence to recommended surveillance and satisfaction with various aspects of the follow-up. RESULTS: Of the 682 BRCA carriers surveyed, 68.5% reported fully adhering to recommended medical follow-up. Those not fully adhering cited bureaucracy challenges, scheduling difficulties, timing uncertainties, and difficulty remembering examination dates. Less than 50% were satisfied with appointment availability, scheduling, contact persons, and general practitioners' knowledge of BRCA carrier risks and follow-up. The 417 women monitored in dedicated breast clinics reported notably higher optimal adherence to recommended surveillance (78.3 vs. 53.6%, P < 0.0001). In addition, they noted greater satisfaction with appointment availability (63.7 vs. 25.0%, P < 0.0001), appointment scheduling process (58.1 vs. 24.7%, P < 0.0001), availability of breast surgeons/gynecology specialists (67.4 vs. 50.8%, P < 0.0001), and availability of a contact person for consultations between appointments (53.5 vs. 20.8%, P < 0.0001). DISCUSSION: Our findings highlight the advantages of surveillance in dedicated BRCA1/2 clinics, including closer monitoring and increased satisfaction. Given the limited availability of such clinics and the growing number of BRCA1/2 carriers, the opening of additional dedicated clinics and the consideration of alternative surveillance-enhancing solutions, such as training healthcare professionals, using digital tools, and employing artificial intelligence, are essential.

4.
Eur J Obstet Gynecol Reprod Biol ; 299: 143-147, 2024 Jun 07.
Artículo en Inglés | MEDLINE | ID: mdl-38865741

RESUMEN

OBJECTIVE: Prevalence of obesity in reproductive age and pregnant women has been on the rise during the past several decades. The relationship between body mass index (BMI) and obstetric anal sphincter injuries (OASIS) or episiotomy has not yet been thoroughly investigated. The objective of this study was to shed light on this issue. METHODS: This retrospective cohort study was performed using electronic database of an obstetrics department at a university-affiliated tertiary medical center. All spontaneous singleton vaginal deliveries at term between January 2015 and December 2021 were included. The primary outcome was the incidence of OASIS (third- and fourth-degree perineal tears) and obesity. These were compared across three BMI categories: normal (BMI below 25 kg/m2), overweight (BMI 25.0-29.9 kg/m2), and obesity (BMI of 30 kg/m2 and over). RESULTS: Of the overall 13,932 spontaneous vaginal deliveries identified, 34.7 % had BMI in the normal range, 43.1 % were overweight, and 25.4 % were obese. Multivariate analysis demonstrated lower rates of OASIS in obese (OR 0.2, 95 %CI 0.04-0.9) and in overweight (OR 0.3, 95 %CI 0.1-0.99) women, as compared to the normal-weight cohort. In addition, lower rates of episiotomy were noted in the obese cohort (OR 0.7, 95 %CI 0.6-0.8). CONCLUSIONS: Decreased incidence of OASIS was noted in women with obesity, in conjunction with lower use of episiotomy. These findings imply that obstetrics clinics might consider a more conservative approach to episiotomy in obese patients.

5.
Harefuah ; 163(6): 365-368, 2024 Jun.
Artículo en Hebreo | MEDLINE | ID: mdl-38884289

RESUMEN

INTRODUCTION: Soft sonographic markers, such as an intracardiac echogenic focus, are demonstrated in one out of 150 live births and are associated with a slightly increased risk of trisomy 21 and 18. In the case of an isolated soft marker, the recommendation to perform invasive tests such as amniocentesis or placental cyst testing depends to a large extent on the results of biochemical first and second trimester maternal serum screening. In the case of two soft markers, the women are referred to genetic counseling, and invasive testing is funded by the Ministry of Health. OBJECTIVES: To estimate the risk for clinically significant copy number variants (CNVs) in pregnancies with two soft markers. METHODS: This retrospective cohort study included all prenatal microarray tests performed during 2013-2021, due to demonstration of two soft markers (namely: echogenic intracardiac foci, choroid plexus cyst, single umbilical artery and mild pyelectasis). The rates of clinically significant (pathogenic and likely pathogenic) microarray findings were compared to a previously published cohort of 7235 pregnancies with normal ultrasound, in which 87 (1.2%) abnormal CNVs were noted. RESULTS: Of the 150 pregnancies with two soft markers, two (1.3%) clinically significant CNVs were found. The rate of abnormal microarray findings did not differ from baseline risk in pregnancies with normal ultrasound - relative risk of 1.11 (95% confidence interval 0.28-4.40). CONCLUSIONS: The risk for abnormal microarray findings in pregnancies with two soft markers was not significantly increased in comparison to control group of pregnancies with normal sonography. DISCUSSION: These results undermine the current national policy of genetic counseling and Ministry of Health-funded invasive testing in pregnancies with a combination of two soft markers. These findings are important for additional countries with similar management, and may facilitate the genetic counseling and informed decision-making in such cases.


Asunto(s)
Variaciones en el Número de Copia de ADN , Ultrasonografía Prenatal , Humanos , Embarazo , Femenino , Estudios Retrospectivos , Adulto , Ultrasonografía Prenatal/métodos , Asesoramiento Genético , Diagnóstico Prenatal/métodos , Estudios de Cohortes , Síndrome de Down/genética , Síndrome de Down/diagnóstico , Biomarcadores/sangre
6.
J Hum Genet ; 69(7): 337-343, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38632380

RESUMEN

BACKGROUND: Distal Xq28 duplication, or int22h1/int22h2-mediated Xq28 duplication syndrome, leads to cognitive impairment, neurobehavioral issues, and facial dysmorphisms. Existing literature has limited information on clinical traits and penetrance. METHODS: We identified cases of distal Xq28 duplication (chrX: 154,126,575-154,709,680, GRCh37/hg19) through a review of clinical records and microarray reports from five centers, encompassing both postnatal and prenatal cases, with no prior family knowledge of the duplication. RESULTS: Our search found 47 cases across 26 families, with duplications ranging from 208 to 935 Kb. In total, 8 out of 26 index cases featured a 200-300 kb partial duplication, mainly from Armenian/Caucasian Jewish backgrounds. Most prenatal cases showed no major fetal ultrasound malformations. Of cases with known inheritance mode (15 out of 26), maternal inheritance was more common (80%). The study identified seven male carriers of the duplication from six unrelated families, indicating partial penetrance in males. CONCLUSION: Our study provides key insights into distal Xq28 duplication. Most prenatal tests showed no major fetal ultrasound issues. Maternal inheritance was common, with unaffected mothers. In the postnatal group, a balanced gender distribution was observed. Among male family members, two fathers had ADHD, one was healthy, and one brother had mild symptoms, indicating partial penetrance in males.


Asunto(s)
Duplicación Cromosómica , Cromosomas Humanos X , Penetrancia , Humanos , Masculino , Femenino , Cromosomas Humanos X/genética , Duplicación Cromosómica/genética , Niño , Adulto , Preescolar , Adolescente , Linaje , Lactante , Fenotipo
7.
Prenat Diagn ; 44(4): 511-518, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38353311

RESUMEN

OBJECTIVE: Significant discrepancy exists between laboratories in classification and reporting of copy number variants (CNVs). Studies exploring factors affecting prenatal CNV management are rare. Our "virtual fetus" pilot study examines these factors. METHOD: Ten prenatally diagnosed CNVs of uncertain significance (VUS) > 1Mb, encompassing OMIM-morbid genes, inherited from healthy parents, were classified by 15 MD geneticists from laboratory, prenatal, and preimplantation genetic testing (PGT) units. Geneticists addressed factors affecting classification, obligation to report, and recommendation for invasive testing or PGT. RESULTS: CNVs were classified likely benign (10.7%), VUS (74.7%), likely pathogenic (8.7%), or pathogenic (6.0%). Classification discrepancy was higher for losses versus gains. Classifying pathogenic/likely pathogenic was more common for losses (adjusted odds ratio [aOR] 10.9, 95% CI 1.55-76.9), and geneticists specializing in gynecology (aOR 4.9, 95% CI 1.03-23.3). 84.0% of respondents would report CNVs, depending on classification and family phenotype. Invasive testing in pregnancies was recommended for 29.3% of CNVs, depending on the classification and geneticist's specialization. PGT was recommended for 32.4%, depending on classification, experience years, and family's phenotype (38.0% for patients undergoing in vitro fertilization irrespectively, 26.7% otherwise). CONCLUSION: Factors affecting CNV classification/reporting are mainly dosage, family phenotype, geneticist specialization and experience. Understanding factors from our pilot study may facilitate developing an algorithm for clinical consensus and optimal management.


Asunto(s)
Variaciones en el Número de Copia de ADN , Feto , Femenino , Embarazo , Humanos , Proyectos Piloto , Análisis por Micromatrices , Fenotipo
8.
Matern Child Health J ; 28(2): 198-205, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37980701

RESUMEN

OBJECTIVE: To assess the preferences of women undergoing cesarean delivery regarding intraoperative conversations among healthcare personnel. METHODS: This cross-sectional study was conducted by distribution of an open anonymous questionnaire on social media platforms during March 2022, targeting respondents with a history of cesarean delivery. The primary outcome was patients' experience of "being disturbed by professional and casual conversations of the personnel", rated on a 1-5 Likert scale. RESULTS: 1203 participants completed the questionnaire, with 97.6% reporting intraoperative conversations among personnel. Casual conversations were perceived as "disturbing" by more respondents vs. professional talk (33.4% vs. 27.6%, respectively, p = 0.0077). Logistic regression analysis revealed associations between feeling disturbed and higher intraoperative stress and pain - adjusted Odds Ratio (OR) 3.1, 95% confidence interval (CI) 2.1-4.5, and OR 2.7, 95%CI 1.8-4.0, respectively, for professional conversations; OR 3.0, 95%CI 2.0-4.4, and OR 1.7, 95%CI 1.1-2.7, respectively, for casual conversations. Feeling disturbed by professional conversations was also associated with urgent vs. elective operations (OR 2.0, 95%CI 1.4-3.0). Direct personnel-patient communication was associated with significantly lower stress levels (60.8% vs. 72.5% in the remaining cohort, p < 0.001). DISCUSSION: Intraoperative conversations of the personnel occur during vast majority of cesarean deliveries. Given that a substantial proportion of patients find these conversations disturbing, it is advisable to conduct a preliminary assessment of maternal preferences. This proactive step can help tailor communication strategies to individual patient comfort and preferences, ultimately enhancing the birthing experience and maternal well-being.


Asunto(s)
Cesárea , Miedo , Embarazo , Femenino , Humanos , Estudios Transversales , Comunicación
10.
J Perinat Med ; 52(2): 158-164, 2024 Feb 26.
Artículo en Inglés | MEDLINE | ID: mdl-38098122

RESUMEN

OBJECTIVES: To evaluate the effect of overweight (body mass index; BMI 25.0-29.9 kg/m2), and obesity (BMI>30 kg/m2), on the success of trial of labor after cesarean delivery (TOLAC), with consideration of successful past vaginal birth. METHODS: This retrospective cohort study was performed using electronic database of obstetrics department at a university-affiliated tertiary medical center. All women admitted for TOLAC at 37-42 weeks of gestational age, carrying a singleton live fetus at cephalic presentation, with a single previous low segment transverse cesarean delivery between 1/2015 and 5/2021 were included. Primary outcome was the rate of cesarean delivery during labor, and subgroup analysis was performed for the presence of past vaginal birth. RESULTS: Of the 1200 TOLAC deliveries meeting the inclusion criteria, 61.9 % had BMI in the normal range, 24.6 % were overweight (BMI 25.0-29.9 kg/m2), and 13.4 % were obese (BMI of 30 kg/m2 and over). Using a multivariate analysis, BMI≥30 kg/m2 was associated with increased risk of cesarean delivery compared to normal weight. However, in the subgroup of 292 women with a history of successful vaginal birth BMI did not affect TOLAC success. CONCLUSIONS: BMI does not affect the success of TOLAC in women with previous vaginal birth. This information should be considered during patients counselling, in order to achieve a better selection of mode of delivery and higher patients' satisfaction.


Asunto(s)
Esfuerzo de Parto , Parto Vaginal Después de Cesárea , Humanos , Embarazo , Femenino , Parto Vaginal Después de Cesárea/efectos adversos , Estudios Retrospectivos , Sobrepeso , Parto Obstétrico , Obesidad/complicaciones , Obesidad/epidemiología
11.
Am J Obstet Gynecol MFM ; 5(12): 101201, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-37871696

RESUMEN

BACKGROUND: The rate of clinically significant copy number variants in chromosomal microarray analysis in low-risk pregnancies is approximately 1%. However, these results include copy number variants with low and variable penetrance, although some patients might be interested only in the detection of high-penetrant variants. OBJECTIVE: This study aimed to calculate the prevalence of high-penetrant copy number variants in a large cohort of low-risk pregnancies. STUDY DESIGN: This retrospective study was performed using microarray results of pregnancies with normal ultrasound and maternal serum screening. All clinically significant (pathogenic and likely pathogenic) copy number variants were recorded. Of these, only high-penetrant findings were selected. Findings with low and medium penetrance and copy number variants with unknown clinical penetrance, including uniparental disomy of segments not related to known imprinted syndromes, mosaic aneuploidy of <50%, and segmental mosaicism, were excluded. The calculation was performed for the overall cohort, for women aged >35 years and women aged <35 years, and after omission of noninvasive prenatal screening theoretically detectable findings (trisomies 13, 18, and 21). RESULTS: Clinically significant copy number variants were detected in 118 of 7734 cases (1.50% or 1:65), and high-penetrant copy number variants were detected in 33 of 7734 cases (0.43% or 1:234). In women aged ≥35 years, the rates of high-penetrant copy number variants were 29 of 5734 cases (0.51% or 1:198) and 4 of 2000 cases (0.20% or 1:500) in women aged <35 years (P=.0747). Following the omission of 12 theoretically noninvasive prenatal screening-detectable findings, the rates of high-penetrant copy number variants declined to 21 of 7722 cases (0.27% or 1:368) in the whole cohort-18 of 5723 cases (0.31% or 1:318) in woman aged ≥35 years and 3 of 1999 cases (0.15% or 1:666) in younger women (P=.319). CONCLUSION: The risk of high-penetrant copy number variants in low-risk pregnancies exceeds the risk of miscarriage after invasive testing, even after normal noninvasive prenatal screening results. These results are of importance to genetic counselors and obstetricians, to facilitate maternal informed decision-making when considering invasive prenatal testing in low-risk pregnancies.


Asunto(s)
Variaciones en el Número de Copia de ADN , Diagnóstico Prenatal , Embarazo , Humanos , Femenino , Diagnóstico Prenatal/métodos , Estudios Retrospectivos , Prevalencia , Aberraciones Cromosómicas
12.
Genet Med ; 25(12): 100981, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37712502

RESUMEN

PURPOSE: To summarize the results of first year implementation of pan-ethnic screening testing for Duchenne muscular dystrophy (DMD) and present the ensuing challenges. METHODS: Data acquisition for this study was performed by retrospective search of Ministry of Health registry for reports of all laboratories performing genetic screening tests. DMD testing was performed by multiplex ligation-dependent probe amplification technology. In case of single-exon deletion, sequencing of the specific exon was performed to rule out underlying single-nucleotide variant. RESULTS: Of overall 85,737 DMD tests, 82 clinically significant findings were noted (0.095%, or 1:1,046 women). In addition, 80 findings with uncertain clinical significance were detected (0.093%, or 1:1072), as well as 373 cases (0.4%, or 1:230) of single-exon deletions subsequently identified as false positives because of underlying single-nucleotide variant, mostly variants in exon 8 in North African Jewish population, and in exon 48 in Arab Muslim population. CONCLUSION: Interpretation of population-based DMD carrier screening is complex, occasionally requiring additional genetic testing methods and ethical considerations. Multicenter data registry, including ethnic origin and familial segregation in selected cases, is crucial for optimal definition of the results during genetic counseling and informed decisions regarding prenatal testing.


Asunto(s)
Distrofia Muscular de Duchenne , Femenino , Humanos , Embarazo , Distrofina/genética , Eliminación de Gen , Heterocigoto , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/genética , Mutación , Nucleótidos , Estudios Retrospectivos
13.
Harefuah ; 162(6): 340-343, 2023 Jun.
Artículo en Hebreo | MEDLINE | ID: mdl-37394434

RESUMEN

INTRODUCTION: In the current issue of Harefuah, we present original research articles and reviews, reflecting the tremendous development of the field of genetic testing. This progress provides extensive tools for determining genetic diagnoses, thereby enabling detailed explanation for patients and their family members regarding the specific genetic disorder, adjustment of medical evaluation and follow-up, and allowing informed decision-making during pregnancy. Furthermore, there are advances in the assessment of recurrence of risks among members of the extended family, including future pregnancies, with a possibility of prenatal diagnosis and pre-implantation genetic testing.


Asunto(s)
Pruebas Genéticas , Diagnóstico Prenatal , Embarazo , Femenino , Humanos
14.
Harefuah ; 162(6): 376-380, 2023 Jun.
Artículo en Hebreo | MEDLINE | ID: mdl-37394441

RESUMEN

INTRODUCTION: Following the recent human genome revolution, novel technologies have been developed in the last decade enabling advanced sequencing tests, including genetic panel tests that focus on groups of specific genes associated with a certain medical condition (phenotype). Since the process of assembling a genetic panel may be complex and requires significant manpower and time, it is important to define the most common and requested panels, for gradual construction and introduction of panel tests starting with the most common. AIMS: Since no information was found in the literature defining the common panels, the aim of the study was to define the indications for performing a gene panel within the framework of the provided services, and to estimate their frequency. METHODS: Prospective data acquisition was performed by a party responsible for approval of panel tests within Clalit Health Services Organization. The indications for all approved panel tests were registered since the launch of Clalit's Genomic Center. The total number of indications was counted, and according to the Pareto principle, 20% of the most frequent indications were chosen. In addition, the indications were divided into main medical disciplines. RESULTS: Overall, 132 indications were recorded for approved gene panel tests; 20% of these indications, i.e. the first 26 indications in terms of frequency, covered 79.6% of the cases. The most frequent approved panels were epilepsy (10.4%, confidence interval (CI) 8.5-12.6%), Maturity-onset diabetes of the young (MODY) (9.6%, CI 7.8-11.7%), cardiomyopathy (8.3%, CI 6.6-10.3%) and hearing impairment (7.6%, CI 6.0-9.6%). The most common disciplines in descending order were neurological diseases (23.0%, CI 20.3-25.9%), endocrinology (13.1%, CI 11.1-15.6%), heart diseases (9.0%, CI 7.3-11.1%) and eye diseases (7.8%, CI 6.2-9.8%). CONCLUSIONS: A review of panel approvals at the Genomic Center of Clalit showed a number of frequent indications. DISCUSSION: We believe this information can be useful for the establishment of genomic laboratories, as well as for the improvement of the service to the patients, by enabling the referral for specific panel tests by medical experts who are not geneticists or genetic counselors, after appropriate training (such as the "Genetics First" program of Clalit).


Asunto(s)
Diabetes Mellitus Tipo 2 , Pruebas Genéticas , Humanos , Genómica , Fenotipo , Estudios Prospectivos
15.
Harefuah ; 162(6): 381-385, 2023 Jun.
Artículo en Hebreo | MEDLINE | ID: mdl-37394442

RESUMEN

INTRODUCTION: Genetic counselors are often compared with other medical professionals in terms of productivity, based on the number of patients seen and the time required for each patient. Prenatal genetic counseling before amniocentesis in uneventful pregnancies is considered to be a "simple" counseling, with potentially less time required for each patient. Thus, in some medical centers the duration of such consultations is limited to provide only the basic explanation without detailed collection of personal and family history, while in others the explanation is given to several patients together. AIMS: To assess the need for extended genetic counseling during supposedly "simple" genetic consultations before amniocentesis. METHODS: Data was collected from January 2018 until August 2020 of all patients undergoing genetic counseling before amniocentesis due to advanced maternal age, abnormal biochemical screening, or without medical indication. The consultations were given by four genetic counselors and two medical geneticists. The need for extended genetic counseling was evaluated based on pedigree and the discussion summaries and recommendations noted in genetic counseling summaries. RESULTS: Of the 1085 relevant counseling appointments, 657 (60.5%) required additional explanation beyond the basic consultation. The reasons for extended counseling included medical disorders of the woman or spouse (21.2%), carrier state for autosomal recessive diseases (18.6%), diagnosed or suspected genetic conditions of a child or previous pregnancy (9.6%), or medical disorders in the extended family (79.1%). In 31.0% of patients, recommended carrier screening tests were recommended or added. In 32.3% of cases, only one extra subject was counseled, in 16.3% two subjects, and in 5%, three subjects or more. The additional explanations were estimated as short (up to 5 minutes) in 36.9% of the cases, intermediate (5 to 15 minutes) in 59.9%, and long (over 15 minutes) in 2.6% of cases. The consultation's duration was not affected from it being a first meeting or a recurrent consultation. CONCLUSIONS: The need for further explanation was demonstrated in over 60% of genetic consultations, performed prior to amniocentesis due to supposedly "simple" indication. DISCUSSION: This fact reflects the importance of formal genetic counseling even in cases of seemingly simple indications, with an emphasis on detailed personal and family history, dedicating sufficient time to the counseling itself. Alternatively, it is important to exercise extra caution when conducting a short explanatory conversation prior to amniocentesis, including detailed questionnaires and the patient's signature on the possible limitations of such explanations.


Asunto(s)
Amniocentesis , Asesoramiento Genético , Embarazo , Femenino , Niño , Humanos , Linaje , Pruebas Genéticas
16.
Harefuah ; 162(6): 386-392, 2023 Jun.
Artículo en Hebreo | MEDLINE | ID: mdl-37394443

RESUMEN

INTRODUCTION: Considerable progress has been observed in the field of genetic counseling and testing in Israel, including the availability and funding of services. The purpose of the article is to summarize the management and present the updates in the field of genetic testing in Israel, as of 2022. The progress in the field of pregnancy-related genetic testing includes an ancestry-based annually updated genetic screening, which has significantly reduced the incidence of several severe and common hereditary diseases. A comprehensive and uniform genetic screening test was submitted for approval by the next basket committee.


Asunto(s)
Asesoramiento Genético , Pruebas Genéticas , Embarazo , Femenino , Humanos , Israel/epidemiología , Incidencia
17.
J Perinat Med ; 51(8): 992-996, 2023 Oct 26.
Artículo en Inglés | MEDLINE | ID: mdl-37207994

RESUMEN

For decades, prenatal screening and genetic testing strategies were limited, requiring less complex decisions. Recently, however, several new advanced technologies were introduced, including chromosomal microarray analysis (CMA) and non-invasive prenatal screening (NIPS), bringing about the need to choose the most appropriate testing for each pregnancy. A worrisome issue is that opposed to the wide implementation and debates over public funding of NIPS, currently invasive testing is still recommended only in selected pregnancies with increased risk for chromosomal aberrations (according to screening tests or sonographic anomalies). This current decision-making regarding public funding for invasive and screening testing might compromise informed consent and patient's autonomy. In this manuscript, we compare several characteristics of CMA vs. NIPS, namely: the accuracy and the diagnostic scope, the risks for miscarriage and for clinically uncertain findings, the timing for testing, and pretest counselling. We argue that it must be recognized that one size might not fit all, and suggest that both options should be presented to all couples through early genetic counseling, with public funding for the specific selected test.

18.
Am J Obstet Gynecol MFM ; 5(7): 100910, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-36828283

RESUMEN

BACKGROUND: The French AmbUlatory Cesarean Section is a cesarean delivery technique, which includes a vertical fascial incision to the left of the linea alba and an extraperitoneal approach to the uterus. The presumed benefits of this technique are decreased postoperative pain and accelerated recovery. However, evidence supporting these impressions is scarce. OBJECTIVE: This study aimed to compare maternal recovery after French AmbUlatory Cesarean Section vs standard cesarean delivery technique. STUDY DESIGN: In this double-blind randomized controlled trial, women undergoing elective cesarean delivery at term were allocated into French AmbUlatory Cesarean Section vs standard cesarean delivery technique. A modified French AmbUlatory Cesarean Section technique was used, adhering to all French AmbUlatory Cesarean Section operative steps except for the extraperitoneal approach. In both groups, the use of intravenous hydration, intrathecal morphine, and bladder catheter was avoided, and all women were encouraged to stand and walk 3 to 4 hours after the operation. The primary adverse composite outcome included either of the following: a visual analog scale score of >6 at 3 to 4 hours after the operation, an inability to stand up and walk to the restroom 3 to 4 hours after the operation, and a 15-Item Quality of Recovery (QoR) questionnaire score of <90 at 24 hours after the operation. The women were followed up for 6 weeks. RESULTS: Overall, 116 women were included in the trial (58 in each group). The adverse composite outcome did not differ between the 2 groups (38.9% for the French AmbUlatory Cesarean Section group vs 53.8% for the regular cesarean delivery group; P=.172). In both groups, more than 90% of the women were able to get up and walk 3 to 4 hours after the operation. Compared with the standard cesarean delivery group, the French AmbUlatory Cesarean Section group had a longer duration of the operation (43.7±11.2 vs 54.4±11.3 minutes; P<.001), a higher rate of intraoperative complications (0.0% vs 13.8%; P=.006), and a higher rate of umbilical cord pH level of <7.2 (3.4% vs 17.2%; P=.029) were noted. Evaluation via phone call 1 week after the operation showed better quality of recovery scores in the French AmbUlatory Cesarean Section group than in the standard cesarean delivery group (27.1±8.4 vs 24.6±8.0; P=.043). Other secondary outcomes did not differ between the 2 groups. CONCLUSION: As excellent maternal recovery was noted in both groups, we believe that the main factor affecting this recovery is the perioperative management (including avoidance of the use of intraoperative intravenous hydration, intrathecal morphine, and bladder catheter, with early postoperative mobilization). The maternal and neonatal safety outcomes of the French AmbUlatory Cesarean Section technique remain to be proven by larger-scale high-quality randomized controlled trials.


Asunto(s)
Cesárea , Dolor Postoperatorio , Femenino , Humanos , Recién Nacido , Embarazo , Derivados de la Morfina , Dolor Postoperatorio/diagnóstico , Dolor Postoperatorio/epidemiología , Dolor Postoperatorio/etiología , Método Doble Ciego
19.
Arch Gynecol Obstet ; 308(6): 1911-1912, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-36596988
20.
Int J Gynaecol Obstet ; 160(1): 131-135, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-35598118

RESUMEN

OBJECTIVE: To identify risk factors associated with accidental fetal skin lacerations (AFL) during cesarean section (CS). METHODS: This retrospective cohort study was obtained from the registry of two large medical centers between 2014 and 2019. The study group comprised all newborns identified with AFL. The rates of various potential risk factors were compared between the study group and a group of CS at which no AFL had occurred (the control group). RESULTS: Of the 14 666 CS deliveries, 48 cases of AFL (0.33%) were documented, 52% of these following urgent CS. Compared with the control group (n = 14 618), the only risk factors associated with AFL were premature rupture of membranes (PROM) (odds ratio [OR] 5.38, 95% convidence interval [CI] 2.97-9.74) and meconium-stained amniotic fluid (OR 6.50, 95% CI 2.55-16.54). In subgroup analysis by CS urgency, no significance for these factors was noted in elective CS group; but higher rates of both PROM and meconium-stained amniotic fluid were noted in the AFL during urgent CS (OR 14.23, 95% CI 6.30-32.16 and OR 15.36, (95% CI 5.65-41.75, respectively). CONCLUSIONS: During urgent CS, the surgeon should bear in mind that the presence of PROM or meconium-stained amniotic fluid should prompt extra care and application of preventive measures to decrease the rates of AFL.


Asunto(s)
Laceraciones , Complicaciones del Embarazo , Recién Nacido , Embarazo , Humanos , Femenino , Cesárea/efectos adversos , Laceraciones/epidemiología , Laceraciones/etiología , Estudios Retrospectivos , Líquido Amniótico , Factores de Riesgo , Meconio
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