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1.
J Minim Invasive Gynecol ; 31(5): 367, 2024 May.
Article in English | MEDLINE | ID: mdl-38325582

ABSTRACT

OBJECTIVE: The objective of this video is to demonstrate the diagnosis, evaluation, and techniques for surgical management of a longitudinal vaginal septum, a rare müllerian anomaly. DESIGN: This is a stepwise demonstration of evaluation and surgical techniques with video narration. SETTING: The incidence of müllerian defects, which can include any anomaly in the fallopian tube, uterus, cervix, or vagina, has been estimated to be 2% to 4% [1]; 30% to 40% of patients with müllerian defects also have associated renal anomalies [1,2]. In normal development, the müllerian ducts fuse at 10 weeks' gestation and the septum between the 2 ducts is absorbed in a caudal to cephalad direction [3]. The exact incidence of complete longitudinal vaginal septa is unknown as they are very rare [4]. Longitudinal vaginal septa may cause dyspareunia, inability to have penetrative intercourse, labor dystocia, or hygiene issues and be very emotionally distressing for patients [5]. INTERVENTIONS: Preoperative evaluation of an adult with longitudinal vaginal septum that included a careful physical examination and abdominal and pelvic imaging. Intraoperative resection with key strategies: (1) placing a Foley catheter to help avoid urinary tract injuries and (2) intermittent rectal examinations to retract the rectum away from the plane of dissection. CONCLUSION: Patients who present with longitudinal vaginal septa should undergo evaluation for uterine and renal anomalies. Here, we show that resection of longitudinal vaginal septa in adults is feasible and appropriate for patients who present with inability to have penetrative intercourse. Intraoperatively, care should be taken to avoid injuring the rectum or urinary tract.


Subject(s)
Vagina , Humans , Female , Vagina/abnormalities , Vagina/surgery , Adult , Mullerian Ducts/abnormalities , Mullerian Ducts/surgery
2.
Obstet Gynecol ; 143(3): 428-430, 2024 Mar 01.
Article in English | MEDLINE | ID: mdl-38207326

ABSTRACT

Our objective was to perform a cost-effectiveness analysis comparing polyacrylamide hydrogel urethral bulking with other surgical and nonsurgical treatments for stress urinary incontinence (SUI). We created a cost-effectiveness analysis using TreeAge Pro, modeling eight SUI treatments. Treatment with midurethral sling (MUS) had the highest effectiveness (1.86 quality-adjusted life-years [QALYs]), followed by polyacrylamide hydrogel (1.82 QALYs), with a difference (Δ 0.02/year) less than the minimally important difference for utilities of 0.03 annually. When the proportion of polyacrylamide hydrogel urethral bulking procedures performed in the office setting is greater than 58%, polyacrylamide hydrogel is a cost-effective treatment for SUI, along with pessary, pelvic floor physical therapy, and MUS. Although MUS is more effective and, therefore, the preferred SUI treatment, polyacrylamide hydrogel is a reasonable alternative depending on patient preferences and treatment goals.


Subject(s)
Suburethral Slings , Urinary Incontinence, Stress , Humans , Urinary Incontinence, Stress/surgery , Cost-Effectiveness Analysis , Acrylic Resins , Urethra , Treatment Outcome
3.
Urogynecology (Phila) ; 30(4): 413-419, 2024 04 01.
Article in English | MEDLINE | ID: mdl-37737826

ABSTRACT

IMPORTANCE: Voiding diaries are clinically useful tools for elucidating the etiology of lower urinary tract symptoms. The utility of voiding diaries is challenged by low return rate and incomplete or inaccurate data entry. OBJECTIVE: The objective was to determine the effect of the use of an educational video on patient adherence, completeness of intake and voiding diaries, and patient satisfaction. STUDY DESIGN: In this trial, patients who were asked to complete an intake and voiding diary in a urogynecology clinic were randomized to receive standard education or enhanced education with an instructional video on how to complete the diary. Patients returned the diaries at their follow-up visits in the clinic. The primary outcome was the return rate of the diaries. Upon follow-up, patients filled out a survey reporting their satisfaction with instructions received. Diaries were graded by 3 blinded experts. RESULTS: Eighty-five patients were enrolled, 42 in the standardized instructions arm and 43 in the video arm. A total of 26 patients (30.6%) filled out and returned an intake and voiding diary. Between groups, there was no difference in the rate of return of the diaries ( P = 0.59) or in completeness of the returned voiding diaries ( P = 0.60). The educational video did not change satisfaction between the groups; patients reported identical satisfaction between groups. CONCLUSIONS: The addition of an instructional video on how to complete an intake and voiding diary did not increase patients' rate of return, completeness of diaries, or satisfaction with instructions provided to complete the diary.


Subject(s)
Lower Urinary Tract Symptoms , Urination , Humans , Surveys and Questionnaires , Lower Urinary Tract Symptoms/diagnosis , Educational Status , Patient Compliance
4.
Obstet Gynecol ; 143(3): 419-427, 2024 Mar 01.
Article in English | MEDLINE | ID: mdl-38128098

ABSTRACT

OBJECTIVE: To estimate the national cost of pelvic organ prolapse (POP) surgery in the United States. METHODS: In this cross-sectional, population-based study, we used the 2016-2018 Healthcare Cost and Utilization Project National Inpatient Samples and National Ambulatory Surgery Samples to identify patients undergoing POP surgery using International Classification of Diseases, Tenth Revision (ICD-10) diagnosis codes, ICD-10 procedural codes, and Current Procedural Terminology codes. Cost-to-charge ratios and weighted estimates were used to calculate nationwide costs. Descriptive analysis was used to identify the sociodemographic, clinical, and surgical characteristics of the population undergoing POP surgery. RESULTS: Between 2016 and 2018, there were 140,762 POP surgical cases annually with an annual national cost estimated at $1.523 billion per year. The median cost per procedure increased slightly from $8,837 in 2016 to $8,958 in 2018. Overall, 82.5% of the total surgeries and 78% of the total national costs associated with POP surgery came from the ambulatory setting over this time period. Of these surgeries, 44.7% included an apical repair, and 42.3% included a concomitant hysterectomy. The average age of the population was 62 years, and 20% of the total population receiving prolapse surgery were younger than age 50 years. CONCLUSION: The annual national cost associated with surgical correction of POP is substantial, and the majority of cases occur in an ambulatory setting. These findings will contribute to enhancing cost-effectiveness analyses and decision-making processes for both health care professionals and policymakers as the national population continues to age.


Subject(s)
Pelvic Organ Prolapse , Female , Humans , United States , Middle Aged , Cross-Sectional Studies , Pelvic Organ Prolapse/surgery , Hysterectomy/methods
5.
Int Urogynecol J ; 34(12): 2969-2975, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37650903

ABSTRACT

INTRODUCTION AND HYPOTHESIS: To perform a cost-effectiveness analysis of concurrent posterior repair performed at the time of laparoscopic hysterectomy with sacrocolpopexy over a 7-year time period. We hypothesize it is not cost-effective to perform a posterior colporrhaphy. METHODS: We used TreeAge Pro® to construct a decision model with Markov modeling to compare sacrocolpopexy with and without concurrent posterior repair (SCP and SCP+PR) over a time horizon of 7 years. Outcomes included probability and costs associated with prolapse recurrence, prolapse retreatment, and complications including rectal injury, rectovaginal hematoma requiring reoperation, and postoperative dyspareunia. Cost-effectiveness was defined as an incremental cost-effectiveness ratio (ICER) calculated as ∆ costs /∆ effectiveness and the willingness to pay (WTP) was set at $100,000/QALY. RESULTS: Our model showed that SCP was the dominant strategy, with lower costs (-$ 2681.06) and higher effectiveness (+0.10) compared to SCP+PR over the 7-year period. In two-way sensitivity analyses, we varied the probability of prolapse recurrence after both strategies. Our conclusions would only change if the probability of recurrence after SCP was at least 29.7% higher than after SCP+PR. When varying the probabilities of dyspareunia for both strategies, SCP+PR only became the dominant strategy if the probability of dyspareunia for SCP+PR was lower than the rate of SCP alone. CONCLUSIONS: In this 7-year Markov cost-effectiveness analysis, SCP without concurrent PR was the dominant strategy. SCP+PR costs more with lower effectiveness than SCP alone, due to higher surgical cost of SCP+PR and higher probability of dyspareunia after SCP+PR.


Subject(s)
Dyspareunia , Pelvic Organ Prolapse , Female , Humans , Cost-Effectiveness Analysis , Pelvic Organ Prolapse/surgery , Pelvic Organ Prolapse/etiology , Dyspareunia/etiology , Dyspareunia/surgery , Hysterectomy/adverse effects , Genitalia , Cost-Benefit Analysis
6.
Female Pelvic Med Reconstr Surg ; 28(5): 325-331, 2022 05 01.
Article in English | MEDLINE | ID: mdl-35234184

ABSTRACT

OBJECTIVE: The objective was to perform a cost-effectiveness analysis of posterior repair performed at the time of sacrocolpopexy (SCP). METHODS: We used TreeAge Pro to construct a decision model comparing laparoscopic hysterectomy with SCP with and without concurrent posterior repair (SCP and SCP + PR). Using a time horizon of 1 year, we modeled prolapse recurrence, prolapse retreatment, and complications, including rectal injury, rectovaginal hematoma requiring surgical take-back, and postoperative dyspareunia. Costs included index surgery, surgical retreatment, and complications. We modeled effectiveness as quality-adjusted life years (QALYs). Cost-effectiveness was defined using the incremental cost-effectiveness ratio and willingness to pay of $100,000/QALY. Sensitivity analyses were performed. RESULTS: Sacrocolpopexy was the dominant strategy with a cost of $65,714 and an effectiveness of 0.84. It was cost-effective at willingness to pay threshold less than $100,000/QALY. The SCP + PR costs more ($75,063) with lower effectiveness (0.83). The effectiveness of the 2 strategies was similar, differing only by 0.01 QALY, which is less than the minimally important difference for utilities. Tornado plots showed CEA results were most influenced by the cost of SCP, cost of SCP + PR, and probability of dyspareunia after SCP. In 1-way sensitivity analyses, the model outcome would change only if the cost of SCP was increased by 12.8% or if the cost of SCP + PR decreased by 14.5%. For dyspareunia, our model would only change if the probability of dyspareunia after SCP alone was 75.9% (base case, 18.6%), whereas the probability of dyspareunia after SCP + PR was 26.8%. CONCLUSION: In this cost-effectiveness analysis, SCP without concurrent PR was the dominant strategy.


Subject(s)
Dyspareunia , Cost-Benefit Analysis , Dyspareunia/etiology , Female , Genitalia , Humans , Male , Prolapse , Quality-Adjusted Life Years
7.
J Perinatol ; 41(12): 2742-2748, 2021 12.
Article in English | MEDLINE | ID: mdl-34404925

ABSTRACT

OBJECTIVE: Investigate the association between maternal homelessness at the time of delivery and perinatal outcomes, with a focus on neonatal health outcomes. STUDY DESIGN: Population-based cohort using California's statewide database included 1,520,253 women with linked birth and maternal discharge data, 2008-2012. Multivariable analysis assessed homelessness at time of delivery on perinatal outcomes, preterm delivery, and neonatal intensive care unit admission. RESULT: A total of 672 women (0.05%) were homeless at the time of delivery. Homelessness was associated with premature delivery at multiple gestational age cutoffs (34w0d-36w6d; 32w0d-33w6d; 28w0d-31w6d; <28w0d) (range of aORs:1.62-2.19), and neonatal intensive care unit admission (aOR = 1.66, 95% CI:1.31-2.09). Among term infants, homelessness remained associated with increased odds of neonatal intensive care unit admission (aOR = 1.84, 95% CI:1.34-2.53), low birthweight (aOR = 1.99, 95% CI:1.36-2.90), neonatal abstinence syndrome (aOR = 2.13, 95% CI:1.35-2.53), hypoxic-ischemic encephalopathy (aOR = 14.38, 95% CI:3.90-53.01), and necrotizing enterocolitis (aOR = 14.94, 95% CI:2.68-83.20). CONCLUSION: Homelessness in pregnancy was associated with adverse perinatal outcomes including increased odds of preterm delivery across all gestational ages, and increased risk of neonatal intensive care unit admission and low birth weight independent of preterm delivery.


Subject(s)
Ill-Housed Persons , Neonatal Abstinence Syndrome , Premature Birth , Female , Gestational Age , Humans , Infant , Infant, Low Birth Weight , Infant, Newborn , Pregnancy , Pregnancy Outcome/epidemiology , Premature Birth/epidemiology , Retrospective Studies
8.
Am J Obstet Gynecol ; 223(6): 890.e1-890.e12, 2020 12.
Article in English | MEDLINE | ID: mdl-32562659

ABSTRACT

BACKGROUND: Topical vaginal estrogen therapy is considered the gold standard treatment for genitourinary syndrome of menopause-associated dyspareunia, but early investigations of energy-based devices show promise for patients with contraindications or those who are refractory to vaginal estrogen cream therapy. Although evaluating safety, efficacy, and long-term outcomes for novel technologies is critically important when new technologies become available to treat unmet healthcare needs, evaluation of the costs of these new technologies compared with existing therapies is also critically important but often understudied. OBJECTIVE: We sought to perform a cost-effectiveness analysis of 3 therapies for genitourinary syndrome of menopause, including vaginal estrogen therapy, oral ospemifene therapy, and vaginal CO2 laser therapy and determine if vaginal laser therapy is a cost-effective treatment strategy for dyspareunia associated with genitourinary syndrome of menopause. STUDY DESIGN: An institutional review board-exempt cost-effectiveness analysis was performed by constructing a decision tree using decision analysis software (TreeAge Pro; TreeAge Software, Inc, Williamstown, MA) using integrated empirical data from the published literature. Tornado plots and 1-way and 2-way sensitivity analyses were performed to assess how changes in the model's input parameters altered the overall outcome of the cost-effectiveness analysis model. RESULTS: All 3 treatment methods were found to be cost-effective below the willingness-to-pay threshold of $50,000.00 per quality-adjusted life year for moderate dyspareunia. The incremental cost-effectiveness ratio for vaginal CO2 laser therapy was $16,372.01 and the incremental cost-effectiveness ratio for ospemifene therapy was $5711.14. Although all 3 treatment strategies were on the efficient frontier, vaginal CO2 laser therapy was the optimal treatment strategy with the highest effectiveness. In a 1-way sensitivity analysis of treatment adherence, vaginal CO2 laser therapy was no longer cost-effective when the adherence fell below 38.8%. Vaginal estrogen cream and ospemifene therapies remained cost-effective treatment strategies at all ranges of adherence. When varying the adherence to 100% for all strategies, oral ospemifene therapy was "dominated" by both vaginal CO2 laser therapy and vaginal estrogen cream therapy. In a 2-way sensitivity analysis of vaginal CO2 laser therapy adherence and vaginal CO2 laser therapy cost, vaginal CO2 laser therapy still remained the optimal treatment strategy at 200% of its current cost ($5554.00) when the adherence was >55%. When the cost fell to 20% of its current cost ($555.40), it was the optimal treatment strategy at all adherence values above 29%. CONCLUSION: This study showed that vaginal fractional CO2 laser therapy is a cost-effective treatment strategy for dyspareunia associated with GSM, as are both vaginal estrogen and oral ospemifene therapies. In our model, vaginal CO2 laser therapy is the optimal cost-effective treatment strategy, and insurance coverage should be considered for this treatment option if it is proven to be safe and effective in FDA trials.


Subject(s)
Dyspareunia/therapy , Estrogens/therapeutic use , Laser Therapy/methods , Lasers, Gas/therapeutic use , Menopause , Selective Estrogen Receptor Modulators/therapeutic use , Tamoxifen/analogs & derivatives , Administration, Intravaginal , Cost-Benefit Analysis , Costs and Cost Analysis , Decision Support Techniques , Decision Trees , Dyspareunia/etiology , Estrogens/economics , Female , Female Urogenital Diseases/etiology , Female Urogenital Diseases/therapy , Humans , Laser Therapy/economics , Patient Compliance , Quality-Adjusted Life Years , Selective Estrogen Receptor Modulators/economics , Tamoxifen/economics , Tamoxifen/therapeutic use
9.
Ann Plast Surg ; 78(6S Suppl 5): S282-S285, 2017 Jun.
Article in English | MEDLINE | ID: mdl-28296716

ABSTRACT

BACKGROUND: Shifting preference for implant-based breast reconstruction has resulted in an increased use of acellular dermal matrix (ADM) in tissue-expander breast reconstruction. The benefits afforded by ADM must be weighed against a potential increased risk for postoperative complications. Dermal autograft-assisted breast reconstruction using autograft harvest from the lower abdomen has been shown to result in equivalent aesthetics and patient satisfaction compared with ADM at a lower cost, with fewer complications. The purpose of this study was to review a series of patients who underwent bilateral mastectomy and immediate dermal autograft-assisted tissue expander (TE) breast reconstruction using the non-cancerous breast as a donor site, comparing the outcomes with a concurrent cohort of patients undergoing ADM-assisted reconstruction to determine the relative safety, cost, and effectiveness of the 2 procedures. METHODS: The study population included all patients who underwent dermal autograft-assisted TE breast reconstruction, using the contralateral cancer-free breast as the source of dermal autograft, between 2010 and 2015. The ADM cohort consisted of patients who underwent bilateral mastectomy and immediate ADM-assisted TE breast reconstruction during the same period. Univariate analysis was performed for demographic data, complications, operative cost, and operative time. Data were compared using the Wilcoxon rank sum test for nonparametric data and χ analyses for continuous and categorical variables. Significance was defined as P value less than 0.05. RESULTS: Seventeen patients received dermal autograft using the non-cancerous breast donor site. Twenty-seven patients who underwent ADM-assisted reconstruction during the same period were identified. Significantly higher cost was demonstrated between groups (ADM, US $9999.87; autograft, US $3924.19; P < 0.0001). No significance difference existed operative time (autograft, 97 min; ADM, 120 min). No difference was found in wound healing complications (ADM, 14.8%; autograft, 23.53%; P = 0.47). No significant difference was found in major complications (ADM, 26%; autograft, 17.65%; P = 0.52) or infectious complications (ADM, 26%; autograft, 17.65%; P = 0.52). CONCLUSIONS: Dermal autograft-assisted breast reconstruction using the contralateral non-cancerous breast as the source of dermal autograft harvest represents a lower cost alternative to ADM without increased risk of postoperative complications.


Subject(s)
Acellular Dermis , Mammaplasty/methods , Mastectomy/methods , Skin Transplantation/methods , Tissue Expansion/methods , Transplant Donor Site/physiology , Adult , Aged , Analysis of Variance , Breast Neoplasms/pathology , Breast Neoplasms/surgery , Cohort Studies , Female , Graft Rejection , Graft Survival , Humans , Middle Aged , Prognosis , Retrospective Studies , Risk Assessment , Statistics, Nonparametric , Tissue Expansion Devices , Transplantation, Autologous , Treatment Outcome
10.
Rev. peru. ginecol. obstet. (En línea) ; 62(3): 269-277, jul.-set. 2016. ilus, tab
Article in Spanish | LILACS | ID: biblio-991504

ABSTRACT

Introducción: El diagnóstico prenatal temprano de anomalías cromosómicas requiere de técnicas invasivas, como la biopsia de vellosidades coriales (BVC) y la amniocentesis (AMC), con el fin de obtener células fetales, cultivarlas y obtener el cariotipo en los fetos con riesgo alto para estas anomalías, identificadas mediante marcadores ecográficos y bioquímicos desde las 11 semanas. Reportamos nuestra experiencia hasta junio del año 2016. Diseño: Estudio descriptivo longitudinal. Institución: Instituto Latinoamericano de Salud Reproductiva (ILSAR), Lima, Perú. Participantes: Fetos de primer y segundo trimestres del embarazo. Intervenciones: Se analizó los resultados del estudio de 400 fetos que cursaban el primer y segundo trimestre y que tenían riesgo alto para anomalías cromosómicas (mayor de 1/270 inicialmente y 1/100 desde el año 2012), resultado cuantificado utilizando la base de datos del Fetal Test de España más el resultado de los marcadores bioquímicos (riesgo combinado). El análisis del cariotipo fetal se realizó en muestras obtenidas por medio de 338 amniocentesis genéticas y 62 biopsias de vellosidades coriales realizadas durante el período comprendido de enero 2003 a junio 2016 en nuestro centro ILSAR. Principales medidas de resultados: Presencia de arcadores ecográficos y normalidad de los cariotipos. Resultados: Los marcadores ecográficos encontrados con mayor frecuencia fueron: higroma quístico (35,8%), translucencia nucal aumentada (13%), ductus venoso con onda de velocidad de flujo anormal (8,5%), dos o más marcadores asociados a anomalías fetales (13,7%). De 400 muestras estudiadas, 141 (35%) fueron cariotipos anormales: 64 (45%) T21, 35 (25%) T18, 21 (15%) 45X, 7 (5%) T13, 14 (10%) otras anomalías. No hubo complicación importante alguna atribuida al procedimiento invasivo. Conclusiones: En los fetos con riesgo alto para anomalías cromosómicas estudiados, el 35% tuvo cariotipo anormal, siendo las más frecuentes las trisomías de los cromosomas 21 y 18, seguidas de la monosomía del cromosoma X. El higroma quístico, la translucencia nucal aumentada y la presencia de 2 o más marcadores asociados a anomalías fetales fueron los hallazgos más frecuentes en la determinación del riesgo ecográfico. El higroma quístico mostró el mayor valor predictivo para anomalías cromosómicas.


Introduction: Early prenatal diagnosis of chromosomal abnormalities requires invasive techniques, including chorionic villous sampling (CVS) and amniocentesis (AMC) in order to acquire, culture and kayotype cells from fetuses at high risk for these abnormalities based on sonographic and biochemical markers present after week 11. We report our experience through June 2016.Design: Descriptive, longitudinal study. Setting: Instituto Latinoamericano de Salud Reproductiva (ILSAR), Lima, Peru. Participants: First and second trimester of pregnancy fetuses. Interventions: Results of the study of 400 first and second trimester fetuses at high risk for chromosomal abnormalities (greater than 1/270 initially or 1/100 starting in 2012) based on Spain Fetal Test database and the results of biochemical markers (combined risk). Fetal karyotype analysis was performed on samples obtained from 338 genetic AMC and 62 CVS from January 2003 to June 2016. Main outcomes measures: Presence of ultrasound markers and normality of karyotypes. Results: The sonographic markers of complications identified most frequently were the following: cystic hygroma (35.8%), increased nuchal translucency (13%), abnormal ductus venosus waveforms (8.5%), two or more markers associated with fetal anomalies (13.7%). Out of the 400 samples studied, 141 (35%) had abnormal karyotypes: 64 (45%) trisomy 21, 35 (25%) trisomy 18, 21 (15%) monosomy X, 7 (5%) trisomy 13, and 14 (10%) other abnormalities. No major complications were attributed to the invasive procedure. Conclusions: Among these fetuses at high risk for chromosomal abnormalities, 35% had an abnormal karyotype. The most frequent chromosomal abnormalities were trisomies 21 and 18, followed by monosomy X. Cystic hygroma, increased nuchal translucency, and the presence of 2 or more markers associated with fetal anomalies were the most common findings in determining the sonographic risk of abnormalities. Cystic hygroma showed the highest predictive value for chromosomal abnormalities.

11.
Rev. peru. ginecol. obstet. (En línea) ; 62(3): 269-277, jul.-set. 2016. ilus, tab
Article in Spanish | LILACS | ID: biblio-1043240

ABSTRACT

Introducción: El diagnóstico prenatal temprano de anomalías cromosómicas requiere de técnicas invasivas, como la biopsia de vellosidades coriales (BVC) y la amniocentesis (AMC), con el fin de obtener células fetales, cultivarlas y obtener el cariotipo en los fetos con riesgo alto para estas anomalías, identificadas mediante marcadores ecográficos y bioquímicos desde las 11 semanas. Reportamos nuestra experiencia hasta junio del año 2016. Diseño: Estudio descriptivo longitudinal. Institución: Instituto Latinoamericano de Salud Reproductiva (ILSAR), Lima, Perú. Participantes: Fetos de primer y segundo trimestres del embarazo. Intervenciones: Se analizó los resultados del estudio de 400 fetos que cursaban el primer y segundo trimestre y que tenían riesgo alto para anomalías cromosómicas (mayor de 1/270 inicialmente y 1/100 desde el año 2012), resultado cuantificado utilizando la base de datos del Fetal Test de España más el resultado de los marcadores bioquímicos (riesgo combinado). El análisis del cariotipo fetal se realizó en muestras obtenidas por medio de 338 amniocentesis genéticas y 62 biopsias de vellosidades coriales realizadas durante el período comprendido de enero 2003 a junio 2016 en nuestro centro ILSAR. Principales medidas de resultados: Presencia de arcadores ecográficos y normalidad de los cariotipos. Resultados: Los marcadores ecográficos encontrados con mayor frecuencia fueron: higroma quístico (35,8%), translucencia nucal aumentada (13%), ductus venoso con onda de velocidad de flujo anormal (8,5%), dos o más marcadores asociados a anomalías fetales (13,7%). De 400 muestras estudiadas, 141 (35%) fueron cariotipos anormales: 64 (45%) T21, 35 (25%) T18, 21 (15%) 45X, 7 (5%) T13, 14 (10%) otras anomalías. No hubo complicación importante alguna atribuida al procedimiento invasivo. Conclusiones: En los fetos con riesgo alto para anomalías cromosómicas estudiados, el 35% tuvo cariotipo anormal, siendo las más frecuentes las trisomías de los cromosomas 21 y 18, seguidas de la monosomía del cromosoma X. El higroma quístico, la translucencia nucal aumentada y la presencia de 2 o más marcadores asociados a anomalías fetales fueron los hallazgos más frecuentes en la determinación del riesgo ecográfico. El higroma quístico mostró el mayor valor predictivo para anomalías cromosómicas.


Introduction: Early prenatal diagnosis of chromosomal abnormalities requires invasive techniques, including chorionic villous sampling (CVS) and amniocentesis (AMC) in order to acquire, culture and kayotype cells from fetuses at high risk for these abnormalities based on sonographic and biochemical markers present after week 11. We report our experience through June 2016.Design: Descriptive, longitudinal study. Setting: Instituto Latinoamericano de Salud Reproductiva (ILSAR), Lima, Peru. Participants: First and second trimester of pregnancy fetuses. Interventions: Results of the study of 400 first and second trimester fetuses at high risk for chromosomal abnormalities (greater than 1/270 initially or 1/100 starting in 2012) based on Spain Fetal Test database and the results of biochemical markers (combined risk). Fetal karyotype analysis was performed on samples obtained from 338 genetic AMC and 62 CVS from January 2003 to June 2016. Main outcomes measures: Presence of ultrasound markers and normality of karyotypes. Results: The sonographic markers of complications identified most frequently were the following: cystic hygroma (35.8%), increased nuchal translucency (13%), abnormal ductus venosus waveforms (8.5%), two or more markers associated with fetal anomalies (13.7%). Out of the 400 samples studied, 141 (35%) had abnormal karyotypes: 64 (45%) trisomy 21, 35 (25%) trisomy 18, 21 (15%) monosomy X, 7 (5%) trisomy 13, and 14 (10%) other abnormalities. No major complications were attributed to the invasive procedure. Conclusions: Among these fetuses at high risk for chromosomal abnormalities, 35% had an abnormal karyotype. The most frequent chromosomal abnormalities were trisomies 21 and 18, followed by monosomy X. Cystic hygroma, increased nuchal translucency, and the presence of 2 or more markers associated with fetal anomalies were the most common findings in determining the sonographic risk of abnormalities. Cystic hygroma showed the highest predictive value for chromosomal abnormalities.

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