RESUMO
BACKGROUND: A significant proportion of major fetal structural anomalies can be detected in the first trimester by ultrasound examination. However, the test performance of the first-trimester anomaly scan (FTAS) performed in a low-risk population as part of a nationwide prenatal screening program is unknown. Potential benefits of the FTAS include early detection of fetal anomalies, providing parents with more time for reproductive decision-making. OBJECTIVES: To investigate the uptake, test performance and time to a final prenatal diagnosis after referral. STUDY DESIGN: A nationwide implementation study was conducted in the Netherlands (November 2021-November 2022). The FTAS was performed between 12+3 and 14+3 weeks gestation by certified sonographers using a standard protocol. Women were referred to a tertiary care center if anomalies were suspected. Uptake, test performance and time to a final prenatal diagnosis (days between referral and date of final diagnosis/prognosis for reproductive decision-making) were determined. Test performance was calculated for first-trimester major congenital anomalies, such as anencephaly and holoprosencephaly and all diagnosed anomalies <24 weeks gestation. RESULTS: The FTAS uptake was 74.9% (129 704/173 129). In 1.0% (1 313/129 704), an anomaly was suspected, of which 54.9% (n=721) had abnormal findings on the detailed first-trimester diagnostic scan and 44.6% (n=586) showed normal results. In 0.5% (n=6), intra-uterine fetal death occurred. In the total group of 721 cases with abnormal findings, 332 structural anomalies, 117 genetic anomalies, 82 other findings (abnormal fetal biometry, sonomarkers, placental/umbilical cord anomaly, an-/oligohydramnios) and 189 cases with transient findings (defined as ultrasound findings which resolved <24 weeks gestation) were found, with one case having an unknown outcome. 0.9% (n=1164) of all cases with a normal FTAS were diagnosed with a fetal anomaly in the second trimester. Test performance included a sensitivity of 84.6% (126/149) for first-trimester major congenital anomalies and 31.6% (537/1701) for all types of anomalies. Specificity for all anomalies was 99.2% (98 055/98 830); positive predictive value 40.9% (537/1 312); negative predictive value 98.8% (98 055/99 219); positive likelihood ratio 40.3; negative likelihood ratio 0.7; false positive rate 0.8% (775/98 830) and false negative rate 68.4% (1 164/1 701). The median time to diagnosis for structural anomalies was 20 days (6-43 days; median GA 16+3), for genetic anomalies 17 days (8.5-27.5 days; median GA 15+6 weeks) and for first-trimester major congenital anomalies 9 days (5-22 days; median GA 14+6 weeks). CONCLUSIONS: The performance of a newly introduced nationwide FTAS in a low-risk population showed a high sensitivity for first-trimester major congenital anomalies and a lower sensitivity for all anomalies combined. The program was accompanied by a referral rate of 1.0%, of which 59.1% involved cases where anomalies were either not confirmed or resolved before 24 weeks gestation. Timing of diagnosis was around 16 weeks gestation for referred cases. To evaluate the balance between benefits and potential harm of the FTAS within a nationwide prenatal screening program, it is essential to assess the effectiveness of the program over time and to consider the perspectives of both women and their partners, as well as healthcare professionals.
RESUMO
INTRODUCTION: Preterm prelabor rupture of membranes (PPROM) remains a major complication of fetal laser surgery in the treatment of twin-to-twin transfusion syndrome (TTTS). The aim of the study was to determine the impact of cannula size on pregnancy outcomes, with a particular focus on PPROM. MATERIAL AND METHODS: The protocol was developed and registered in the PROSPERO database under registration number CRD42022333630. The PubMed, Web of Science, and EMBASE databases were searched electronically on May 18, 2022, and updated on March 2, 2023, utilizing a combination of the relevant MeSH terms, keywords, and word variants for "TTTS" and "laser". Randomized controlled trials, prospective and retrospective cohorts, case-control studies, and case reports/series with more than five participants were considered eligible for inclusion. Studies reporting the cannula diameter and PPROM rate after laser surgery in the treatment of monochorionic pregnancies affected by TTTS between 16- and 26 weeks' gestation were included. Data was extracted independently, and when appropriate, a random-effects meta-analysis was undertaken to calculate pooled estimates and their confidence intervals. Heterogeneity in the effect estimates of the individual studies was calculated using the I2 statistic. The primary outcome was PPROM rate. Secondary outcomes were survival rate, preterm birth, and incomplete surgery. The quality of the included studies was assessed using a modified quality in prognosis study tool. RESULTS: We included a total of 22 studies, consisting of 3426 patients. Only one study was scored as low quality, seven as moderate quality, and the remaining 14 as high quality. The mean PPROM rate after laser surgery treating TTTS was 22.9%, ranging from 11.6% for 9 French (Fr) to 54.0% for 12 Fr. Subsequent meta-regression for the clinically relevant PPROM rate before 34 weeks of gestation, showed increased PPROM rates for increased cannula size (p-value 0.01). CONCLUSIONS: This systematic review confirmed PPROM as a frequent complication of fetal laser surgery, with a mean PPROM rate of 22.9%. A larger cannula diameter relates to a significant higher PPROM risk for PPROM before 34 weeks gestation. Hence, the ideal balance between optimal visualization requiring larger port diameters and shorter operation time and more complete procedures that benefit from larger diameters is crucial to reduce iatrogenic PPROM rates.
Assuntos
Cânula , Transfusão Feto-Fetal , Terapia a Laser , Resultado da Gravidez , Humanos , Gravidez , Transfusão Feto-Fetal/cirurgia , Feminino , Terapia a Laser/métodos , Ruptura Prematura de Membranas Fetais , Fetoscopia/métodos , Procedimentos Cirúrgicos Minimamente Invasivos/métodosRESUMO
OBJECTIVES: To describe the outcomes of preterm born infants with congenital diaphragmatic hernia (CDH; ≤32.0 weeks of gestation) and the associations between prenatal imaging markers and survival. DESIGN: Retrospective cohort study. SETTING: Multicentre study in large referral centres. POPULATION: Infants with an isolated unilateral CDH, live born at 32.0 weeks or less of gestation, between January 2009 and January 2020. METHODS: Neonatal outcomes were evaluated for infants that were expectantly managed during pregnancy and infants that underwent fetoscopic endoluminal tracheal occlusion (FETO) therapy, separately. We evaluated the association between prenatal imaging markers and survival to discharge. Prenatal imaging markers included observed to expected lung-to-head ratio (o/e LHR), side of the defect, liver position, stomach position grade, and observed to expected total fetal lung volume (o/e TFLV). MAIN OUTCOME MEASURE: Survival to discharge. RESULTS: We included 53 infants born at 30+4 (interquartile range 29+1 -31+2 ) weeks. Survival in fetuses expectantly managed during pregnancy was 48% (13/27) in left-sided CDH and 33% (2/6) in right-sided CDH. Survival in fetuses that underwent FETO therapy was 50% (6/12) in left-sided CDH and 25% (2/8) in right-sided CDH. The o/e LHR at baseline was positively associated with survival in cases expectantly managed during pregnancy (odds ratio [OR] 1.20, 95% CI 1.07-1.42, p < 0.01), but not in cases that received FETO therapy (OR 1.01, 95% CI 0.88-1.15, p = 0.87). Stomach position grade (p = 0.03) and o/e TFLV were associated with survival (p = 0.02); liver position was not (p = 0.13). CONCLUSIONS: In infants with CDH born at or before 32 weeks of gestation, prenatal imaging markers of disease severity were associated with postnatal survival.
Assuntos
Hérnias Diafragmáticas Congênitas , Recém-Nascido Prematuro , Feminino , Humanos , Recém-Nascido , Gravidez , Hérnias Diafragmáticas Congênitas/diagnóstico por imagem , Hérnias Diafragmáticas Congênitas/mortalidade , Hérnias Diafragmáticas Congênitas/cirurgia , Estudos Retrospectivos , Ultrassonografia Pré-Natal , Análise de Sobrevida , Idade Gestacional , Resultado do Tratamento , MasculinoRESUMO
OBJECTIVES: First-trimester ultrasound screening is increasingly performed to detect fetal anomalies early in pregnancy, aiming to enhance reproductive autonomy for future parents. This study aims to display the current practice of first-trimester ultrasound screening in developed countries. METHOD: An online survey among 47 prenatal screening experts in developed countries. RESULTS: First-trimester structural anomaly screening is available in 30 of the 33 countries and is mostly offered to all women with generally high uptakes. National protocols are available in 23/30 (76.7%) countries, but the extent of anatomy assessment varies. Monitoring of scan quality occurs in 43.3% of the countries. 23/43 (53.5%) of the respondents considered the quality of first-trimester ultrasound screening unequal in different regions of their country. CONCLUSIONS: First-trimester screening for structural fetal anomalies is widely offered in developed countries, but large differences are reported in availability and use of screening protocols, the extent of anatomy assessment, training and experience of sonographers and quality monitoring systems. Consequently, this results in an unequal offer to parents in developed countries, sometimes even within the same country. Furthermore, as offer and execution differ widely, this has to be taken into account when results of screening policies are scientifically published or compared.
Assuntos
Diagnóstico Pré-Natal , Ultrassonografia Pré-Natal , Gravidez , Humanos , Feminino , Primeiro Trimestre da Gravidez , Países Desenvolvidos , Diagnóstico Pré-Natal/métodos , UltrassonografiaRESUMO
OBJECTIVE: We performed a 1-year evaluation of a novel strategy of simultaneously analyzing single nucleotide variants (SNVs), copy number variants (CNVs) and copy-number-neutral Absence-of-Heterozygosity from Whole Exome Sequencing (WES) data for prenatal diagnosis of fetuses with ultrasound (US) anomalies and a non-causative QF-PCR result. METHODS: After invasive diagnostics, whole exome parent-offspring trio-sequencing with exome-wide CNV analysis was performed in pregnancies with fetal US anomalies and a non-causative QF-PCR result (WES-CNV). On request, additional SNV-analysis, restricted to (the) requested gene panel(s) only (with the option of whole exome SNV-analysis afterward) was performed simultaneously (WES-CNV/SNV) or as rapid SNV-re-analysis, following a normal CNV analysis. RESULTS: In total, 415 prenatal samples were included. Following a non-causative QF-PCR result, WES-CNV analysis was initially requested for 74.3% of the chorionic villus (CV) samples and 45% of the amniotic fluid (AF) samples. In case WES-CNV analysis did not reveal a causative aberration, SNV-re-analysis was requested in 41.7% of the CV samples and 17.5% of the AF samples. All initial analyses could be finished within 2 weeks after sampling. For SNV-re-analysis during pregnancy, turn-around-times (TATs) varied between one and 8 days. CONCLUSION: We show a highly efficient all-in-one WES-based strategy, with short TATs, and the option of rapid SNV-re-analysis after a normal CNV result.
Assuntos
Variações do Número de Cópias de DNA , Feto , Gravidez , Feminino , Humanos , Sequenciamento do Exoma , Heterozigoto , Feto/diagnóstico por imagem , Feto/anormalidades , NucleotídeosRESUMO
BACKGROUND: Since 2007 all pregnant women in the Netherlands are offered the second-trimester anomaly scan (SAS) in a nationwide prenatal screening program. This study aims to assess the level of informed choice of women opting for the SAS and to evaluate the presence of routinization 16 years after its implementation. It further explores decisional conflict and women's decision making. METHODS: This prospective national survey study consisted of an online questionnaire which was completed after prenatal counseling and before undergoing the SAS. Informed choice was measured by the adapted multidimensional measure of informed choice (MMIC) and was defined in case women were classified as value-consistent, if their decision for the SAS was deliberated and made with sufficient knowledge. RESULTS: A total of 894/1167 (76.6%) women completed the questionnaire. Overall, 54.8% made an informed choice, 89.6% had good knowledge, 59.8% had deliberated their choice and 92.7% held a positive attitude towards the SAS. Women with low educational attainment (p=0.004) or respondents of non-Western descent (p=0.038) were less likely to make an informed choice. Decisional conflict was low, with a significantly lower decisional conflict score in women that made an informed choice (p<0.001). Most respondents (97.9%) did not perceive pressure to undergo the SAS. CONCLUSIONS: Our study showed a relatively low rate of informed choice for the SAS, due to absence of deliberation. Therefore, some routinization seem to be present in the Netherlands. However, most women had sufficient knowledge, did not perceive pressure and experienced low decisional conflict.
Assuntos
Estudos de Coortes , Gravidez , Feminino , Humanos , Masculino , Países Baixos , Estudos Prospectivos , Segundo Trimestre da Gravidez , EscolaridadeRESUMO
OBJECTIVES: Congenital diaphragmatic hernia (CDH) is a congenital malformation in which the diaphragm and lungs are underdeveloped, leading to cardiorespiratory and other problems. This study aimed to explore professionals' views regarding prenatal counselling in CDH. METHODS: A qualitative study was performed among healthcare professionals involved in the care of CDH patients in Radboud university medical center Amalia Children's Hospital. Semi-structured interviews were conducted until saturation was achieved. Transcripts were qualitatively analysed to gain insight into professionals' views regarding counselling. RESULTS: Eighteen professionals with various backgrounds were included. The professionals agreed that the first counselling session should be soon after diagnosis and additional sessions should be offered. Concerning counselling content, participants considered explanation of the diagnosis, prognosis, short- and long-term consequences, treatment options and practical aspects important. As for decision-making about possible termination of pregnancy, all professionals emphasised the importance of the parental role, but the preferred parental involvement varied. Regarding practical aspects, preferred counsellors were a neonatologist, obstetrician, paediatric surgeon and/or medical social worker. Participants emphasised that the counselling should be adjusted to parents' needs. CONCLUSIONS: This study gained insight into professionals' views regarding the timeline, content, decision-making process, and practical aspects of prenatal counselling in CDH.
Assuntos
Hérnias Diafragmáticas Congênitas , Gravidez , Criança , Feminino , Humanos , Hérnias Diafragmáticas Congênitas/terapia , Hérnias Diafragmáticas Congênitas/cirurgia , Aconselhamento , Pesquisa Qualitativa , Prognóstico , Pessoal de Saúde , Diagnóstico Pré-NatalRESUMO
The Netherlands launched a nationwide implementation study on non-invasive prenatal testing (NIPT) as a first-tier test offered to all pregnant women. This started on April 1, 2017 as the TRIDENT-2 study, licensed by the Dutch Ministry of Health. In the first year, NIPT was performed in 73,239 pregnancies (42% of all pregnancies), 7,239 (4%) chose first-trimester combined testing, and 54% did not participate. The number of trisomies 21 (239, 0.33%), 18 (49, 0.07%), and 13 (55, 0.08%) found in this study is comparable to earlier studies, but the Positive Predictive Values (PPV)-96% for trisomy 21, 98% for trisomy 18, and 53% for trisomy 13-were higher than expected. Findings other than trisomy 21, 18, or 13 were reported on request of the pregnant women; 78% of women chose to have these reported. The number of additional findings was 207 (0.36%); these included other trisomies (101, 0.18%, PPV 6%, many of the remaining 94% of cases are likely confined placental mosaics and possibly clinically significant), structural chromosomal aberrations (95, 0.16%, PPV 32%,) and complex abnormal profiles indicative of maternal malignancies (11, 0.02%, PPV 64%). The implementation of genome-wide NIPT is under debate because the benefits of detecting other fetal chromosomal aberrations must be balanced against the risks of discordant positives, parental anxiety, and a potential increase in (invasive) diagnostic procedures. Our first-year data, including clinical data and laboratory follow-up data, will fuel this debate. Furthermore, we describe how NIPT can successfully be embedded into a national screening program with a single chain for prenatal care including counseling, testing, and follow-up.
Assuntos
Síndrome de Down/diagnóstico , Testes Genéticos/métodos , Genoma Humano , Implementação de Plano de Saúde , Diagnóstico Pré-Natal/métodos , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Adolescente , Adulto , Aberrações Cromossômicas , Síndrome de Down/epidemiologia , Síndrome de Down/genética , Feminino , Seguimentos , Humanos , Pessoa de Meia-Idade , Países Baixos/epidemiologia , Gravidez , Primeiro Trimestre da Gravidez , Prognóstico , Síndrome da Trissomia do Cromossomo 13/epidemiologia , Síndrome da Trissomia do Cromossomo 13/genética , Síndrome da Trissomía do Cromossomo 18/epidemiologia , Síndrome da Trissomía do Cromossomo 18/genética , Adulto JovemRESUMO
Fetal laser surgery has emerged as the preferred treatment of twin-to-twin transfusion syndrome (TTTS). However, the limited field of view of the fetoscope and the complexity of the procedure make the treatment challenging. Therefore, preoperative planning and intraoperative guidance solutions have been proposed to cope with these challenges. This review uncovers the literature on computer-assisted software solutions focused on TTTS. These solutions are classified by the pre- or intraoperative phase of the procedure and further categorized by discussed hardware and software approaches. In addition, it evaluates the current maturity of technologies by the technology readiness level and enumerates the necessary aspects to bring these new technologies to clinical practice.
Assuntos
Terapias Fetais , Transfusão Feto-Fetal , Terapia a Laser , Feminino , Transfusão Feto-Fetal/cirurgia , Fetoscopia/métodos , Feto , Humanos , Fotocoagulação a Laser/métodos , Terapia a Laser/métodos , GravidezRESUMO
AIM OF THE STUDY: Outcome of fetuses, prenatally diagnosed with sacrococcygeal teratoma (SCT), is still poorly documented. This study assesses the incidence and prenatal predictors of outcome in all fetuses prenatally diagnosed with SCT. METHODS: This is a retrospective study on all fetuses prenatally diagnosed with SCT from 1998 to 2018 in the Netherlands. Poor outcome was defined as terminations of pregnancy (TOP) because of expected unfavorable outcome, intrauterine fetal death, or early neonatal death. Potential risk factors for poor outcome were analyzed. MAIN RESULTS: Eighty-four fetuses were included. Sixteen (19.0%) TOPs were excluded from statistical analysis. Eleven of the remaining 68 fetuses had poor outcome. Overall mortality was 32.1%, with a mortality excluding TOPs of 13.1%. Thirteen fetal interventions were performed in 11 (13.1%) fetuses. Potential risk factors for poor outcome were the presence of fetal hydrops (OR: 21.0, CI: 2.6-275.1, p = 0.012) and cardiomegaly (OR: 10.3, CI: 1.9-55.8, p = 0.011). CONCLUSIONS: The overall mortality of fetuses prenatally diagnosed with SCTs including tTOP was 32.1%. This high mortality rate was mainly due to termination of pregnancy. Mortality excluding TOP was 13.1%. Potential risk factors for poor outcome were fetal hydrops and cardiomegaly.
Assuntos
Resultado da Gravidez/epidemiologia , Diagnóstico Pré-Natal/normas , Região Sacrococcígea/anormalidades , Teratoma/complicações , Adulto , Feminino , Humanos , Recém-Nascido , Países Baixos/epidemiologia , Gravidez , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/estatística & dados numéricos , Estudos Retrospectivos , Região Sacrococcígea/diagnóstico por imagem , Teratoma/diagnóstico , Teratoma/epidemiologiaRESUMO
OBJECTIVES: To give an overview of the genetic and structural abnormalities occurring in fetuses with nuchal translucency (NT) measurement exceeding the 95th percentile at first-trimester screening and to investigate which of these abnormalities would be missed if cell-free fetal DNA (cfDNA) were used as a first-tier screening test for chromosomal abnormalities. METHODS: This is a national study including 1901 pregnancies with NT≥95th percentile referred to seven university hospitals in the Netherlands between 1 January 2010 and 1 January 2016. All cases with unknown pregnancy outcome were excluded. Results of detailed ultrasound examinations, karyotyping, genotyping, pregnancy and neonatal outcomes, investigation by a clinical geneticist and post-mortem investigations were collected. RESULTS: In total, 821 (43%) pregnancies had at least one abnormality. The rate of abnormalities was 21% for fetuses with NT between 95th and 99th percentile and 62% for fetuses with NT≥99th percentile. Prevalence of single-gene disorders, submicroscopic, chromosomal and structural abnormalities was 2%, 2%, 30% and 9%, respectively. CONCLUSION: Although cfDNA is superior to the combined test, especially for the detection of trisomy 21, 34% of the congenital abnormalities occurring in fetuses with increased NT may remain undetected in the first trimester of pregnancy, unless cfDNA is used in combination with fetal sonographic assessment, including NT measurement.
Assuntos
Transtornos Cromossômicos/diagnóstico por imagem , Transtornos Cromossômicos/genética , Anormalidades Congênitas/diagnóstico por imagem , Anormalidades Congênitas/genética , Medição da Translucência Nucal , Cariótipo Anormal , Adolescente , Adulto , Aneuploidia , Síndrome de DiGeorge/diagnóstico por imagem , Síndrome de DiGeorge/genética , Síndrome de Down/diagnóstico por imagem , Síndrome de Down/genética , Displasia Ectodérmica/diagnóstico por imagem , Displasia Ectodérmica/genética , Fácies , Insuficiência de Crescimento/diagnóstico por imagem , Insuficiência de Crescimento/genética , Feminino , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/genética , Humanos , Síndrome LEOPARD/diagnóstico por imagem , Síndrome LEOPARD/genética , Pessoa de Meia-Idade , Países Baixos , Teste Pré-Natal não Invasivo , Síndrome de Noonan/diagnóstico por imagem , Síndrome de Noonan/genética , Gravidez , Primeiro Trimestre da Gravidez , Síndrome da Trissomia do Cromossomo 13/diagnóstico por imagem , Síndrome da Trissomia do Cromossomo 13/genética , Síndrome da Trissomía do Cromossomo 18/diagnóstico por imagem , Síndrome da Trissomía do Cromossomo 18/genética , Ultrassonografia Pré-Natal , Adulto JovemRESUMO
OBJECTIVE: The purpose of this study was to explore the diagnostic yield and clinical utility of trio-based rapid whole exome sequencing (rWES) in pregnancies of fetuses with a wide range of congenital anomalies detected by ultrasound imaging. METHODS: In this observational study, we analyzed the first 54 cases referred to our laboratory for prenatal rWES to support clinical decision making, after the sonographic detection of fetal congenital anomalies. The most common identified congenital anomalies were skeletal dysplasia (n = 20), multiple major fetal congenital anomalies (n = 17) and intracerebral structural anomalies (n = 7). RESULTS: A conclusive diagnosis was identified in 18 of the 54 cases (33%). Pathogenic variants were detected most often in fetuses with skeletal dysplasia (n = 11) followed by fetuses with multiple major fetal congenital anomalies (n = 4) and intracerebral structural anomalies (n = 3). A survey, completed by the physicians for 37 of 54 cases, indicated that the rWES results impacted clinical decision making in 68% of cases. CONCLUSIONS: These results suggest that rWES improves prenatal diagnosis of fetuses with congenital anomalies, and has an important impact on prenatal and peripartum parental and clinical decision making.
Assuntos
Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/genética , Sequenciamento do Exoma , Ultrassonografia Pré-Natal , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Adulto , Tomada de Decisões , Feminino , Feto/diagnóstico por imagem , Testes Genéticos/métodos , Humanos , Masculino , Gravidez , Diagnóstico Pré-Natal/métodos , Reprodutibilidade dos Testes , Adulto JovemRESUMO
OBJECTIVE: To assess the predictive value of observed-to-expected lung-to-head ratio (O/E LHR) for survival and chronic lung disease (CLD) in survivors of left-sided congenital diaphragmatic hernia (CDH) in an era of standardized neonatal treatment, and to evaluate the predictive value of the O/E LHR trajectory for survival. METHODS: This retrospective cohort study was performed in two high-volume CDH centers in the Netherlands in prenatally detected, isolated left-sided CDH patients born between 2008 and 2014. O/E LHR and liver position were determined using 2D-ultrasonography at three time points during gestation from 19 weeks onwards. Ultrasound measurements were performed on stored ultrasound data by one single experienced operator blinded to postnatal outcome. RESULTS: Of the 122 included cases, 77.9% survived of whom 38.9% developed CLD. A significant association was found between the first measured O/E LHR and survival and development of CLD in survivors. Prenatal liver position did not have additional predictive value. No significant association was found between the trajectory of the O/E LHR and survival. CONCLUSION: In an era of standardized neonatal treatment for neonates with CDH, the first measured O/E LHR per patient significantly predicts survival and development of CLD in survivors in isolated left-sided CDH infants. © 2017 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.
Assuntos
Hérnias Diafragmáticas Congênitas/diagnóstico por imagem , Oxigenação por Membrana Extracorpórea , Feminino , Hérnias Diafragmáticas Congênitas/complicações , Hérnias Diafragmáticas Congênitas/mortalidade , Humanos , Recém-Nascido , Lesão Pulmonar/etiologia , Masculino , Países Baixos/epidemiologia , Valor Preditivo dos Testes , Gravidez , Estudos Retrospectivos , Ultrassonografia Pré-NatalRESUMO
Computer-assisted technologies have made significant progress in fetoscopic laser surgery, including placental vessel segmentation. However, the intra- and inter-procedure variabilities in the state-of-the-art segmentation methods remain a significant hurdle. To address this, we investigated the use of conditional generative adversarial networks (cGANs) for fetoscopic image segmentation and compared their performance with the benchmark U-Net technique for placental vessel segmentation. Two deep-learning models, U-Net and pix2pix (a popular cGAN model), were trained and evaluated using a publicly available dataset and an internal validation set. The overall results showed that the pix2pix model outperformed the U-Net model, with a Dice score of 0.80 [0.70; 0.86] versus 0.75 [0.0.60; 0.84] (p-value < 0.01) and an Intersection over Union (IoU) score of 0.70 [0.61; 0.77] compared to 0.66 [0.53; 0.75] (p-value < 0.01), respectively. The internal validation dataset further validated the superiority of the pix2pix model, achieving Dice and IoU scores of 0.68 [0.53; 0.79] and 0.59 [0.49; 0.69] (p-value < 0.01), respectively, while the U-Net model obtained scores of 0.53 [0.49; 0.64] and 0.49 [0.17; 0.56], respectively. This study successfully compared U-Net and pix2pix models for placental vessel segmentation in fetoscopic images, demonstrating improved results with the cGAN-based approach. However, the challenge of achieving generalizability still needs to be addressed.
RESUMO
BACKGROUND: Twin reversed arterial perfusion sequence is a rare complication of monochorionic multifetal pregnancies. In this syndrome, the acardiac twin has a nonfunctional heart, while the other twin, the pump twin, has normal development. The pump twin perfuses the acardiac twin and is therefore at risk for cardiac decompensation. In monoamniotic cases, the normal co-twin is also at risk of sudden death due to cord entanglement. Treatment consists of coagulation and transection of the acardiac's umbilical cord. We report the first intrauterine use in pregnancy of a Ho:yttrium aluminum garnet laser to safely and successfully transect the umbilical cord after Nd:yttrium aluminum garnet coagulation. CASE PRESENTATION: A 30-year-old Caucasian woman was referred to our fetal-maternal medicine unit at 9 weeks gestation with a monochorionic-monoamniotic twin pregnancy complicated by an acardiac twin. After counseling, she opted for an elective intervention to minimize the risks to the pump twin. At 16 weeks, fetoscopy was performed using a single 2-mm entry port. Through this port, a 1.0-mm fetoscope and a 0.365-mm laser fiber were introduced. Under fetoscopic sight and ultrasound (Doppler) guidance, the umbilical cord of the acardiac twin was first coagulated by laser energy using a Nd:yttrium aluminum garnet laser and then, using the same fiber, transected using a Ho:yttrium aluminum garnet laser. The patient underwent cesarean section at 38 weeks and delivered a healthy baby. CONCLUSIONS: We present the first report on intrauterine use of an Ho:yttrium aluminum garnet laser in human pregnancy. Ho:yttrium aluminum garnet laser energy can be successfully and safely used for umbilical cord transection and carries fewer risks than other methods of transection.
Assuntos
Lasers de Estado Sólido , Adulto , Cesárea , Feminino , Humanos , Lasers de Estado Sólido/uso terapêutico , Gravidez , Redução de Gravidez Multifetal , Gravidez de Gêmeos , Cordão Umbilical/cirurgiaRESUMO
OBJECTIVE: To test the hypothesis that unconjugated bilirubin is equally distributed over the albumin molecules present in fetal blood and amniotic fluid in Rhesus (Rh) immunization. METHODS: Molar concentrations of unconjugated bilirubin and albumin were measured in fetal blood and amniotic fluid samples, obtained before the first intrauterine transfusion in 30 nonhydropic, anti-D-alloimmunized fetuses, with gestational ages ranging from 20 to 35 weeks. RESULTS: Bilirubin concentration in amniotic fluid was best predicted by a combination of bilirubin concentration in fetal blood (P<.001), albumin concentration in fetal blood (P=.008), and albumin concentration in amniotic fluid (P<.001) (adjusted R2=0.91). The bilirubin/albumin ratios in fetal blood were linearly correlated with the bilirubin/albumin ratios in amniotic fluid (R2=0.75, P<.001). However, the bilirubin/albumin ratios in fetal blood were always higher than the bilirubin/albumin ratios in amniotic fluid (regression coefficient 1.4, 95% confidence interval 1.1-1.7). In our population, a bilirubin/albumin ratio in amniotic fluid of 0.10 or greater had a better sensitivity and specificity to predict severe anemia (Z hemoglobin -5 standard deviations or less) than the Queenan 4 or the Liley 2c line. CONCLUSION: The relation between fetal hemolysis and amniotic fluid bilirubin concentration is based on the linear correlation between bilirubin/albumin ratios in fetal blood and in amniotic fluid. The slope in Queenan's and Liley's chart follows that of the albumin concentration in amniotic fluid during gestation. LEVEL OF EVIDENCE: III.
Assuntos
Albuminas/metabolismo , Líquido Amniótico/química , Bilirrubina/metabolismo , Isoimunização Rh/metabolismo , Adulto , Feminino , Idade Gestacional , Humanos , Modelos Lineares , Gravidez , Curva ROC , Isoimunização Rh/sangueRESUMO
OBJECTIVE: To assess the diagnostic accuracy of amniotic fluid Delta OD 450 values in the second and third trimesters of D-alloimmunized pregnancies. METHODS: We searched our database for singleton D-alloimmunized pregnancies with nonhydropic fetuses, where amniocentesis was performed within 4 days of first fetal blood sampling. Amniotic fluid Delta OD 450 values were plotted on an extrapolated Liley's chart. Sensitivity and specificity were calculated for two commonly used cutoff levels, Liley's zone 3 and the upper third of Liley's zone 2. Severe fetal anemia was defined as a hemoglobin concentration of more than 5 standard deviations below the normal mean for corresponding gestational age. RESULTS: Seventy-nine pregnancies met our inclusion criteria. Overall accuracy of the extrapolated Liley's curve in predicting severe fetal anemia was 75% (95% confidence interval [CI] 64, 84) for zone 3 and 86% (95% CI 77, 93) when the upper third of zone 2 was included. Sensitivity of Delta OD 450 values in Liley's zone 3 or the upper third of Liley's zone 2 was 95% (95% CI 74, 100) before and 98% (95% CI 89, 100) after 27 weeks. CONCLUSION: Liley's extrapolated curve predicts severe fetal anemia with reasonable accuracy and high sensitivity.
Assuntos
Líquido Amniótico/imunologia , Eritroblastose Fetal/sangue , Eritroblastose Fetal/diagnóstico , Diagnóstico Pré-Natal/métodos , Isoimunização Rh/imunologia , Adulto , Amniocentese , Líquido Amniótico/química , Intervalos de Confiança , Eritroblastose Fetal/mortalidade , Feminino , Morte Fetal , Humanos , Masculino , Valor Preditivo dos Testes , Gravidez , Resultado da Gravidez , Segundo Trimestre da Gravidez , Terceiro Trimestre da Gravidez , Estudos Retrospectivos , Sensibilidade e Especificidade , Índice de Gravidade de DoençaRESUMO
OBJECTIVE: To measure the effects of acute large increases of the hematocrit on fetal peak arterial and maximum venous blood flow velocities. METHODS: Middle cerebral artery peak flow velocities and umbilical vein maximum flow velocities were measured before, immediately after, and 12-24 h after intrauterine transfusions. All measurements were standardized for gestational age. RESULTS: Complete measurements were obtained at 60 intrauterine transfusions. The mean hematocrit before intrauterine transfusion was 0.19 l/l and after 0.40 l/l. The middle cerebral artery peak flow velocity decreased immediately after transfusion in 59 of the 60 cases. There was a rise in umbilical vein maximum flow velocity immediately after intrauterine transfusion in 37 of the 60 cases. The sensitivity of middle cerebral artery peak flow velocity for severe anemia before intrauterine transfusion was 54% and the specificity 57%. The sensitivity of umbilical vein maximum flow velocity for severe anemia before intrauterine transfusion was 67% and the specificity 57%. CONCLUSIONS: An acute large increase of the fetal hematocrit significantly decreases middle cerebral artery peak flow velocity. The effect on umbilical vein maximum velocity is, however, unpredictable.