Fetal anomalies

胎儿异常
  • 文章类型: Journal Article
    胰高血糖素样肽-1受体激动剂(GLP-1RA)是用于治疗2型糖尿病(T2DM)和肥胖症的肽类似物。这一类的第一种药物,艾塞那肽,2005年被批准,这些药物,特别是塞马鲁肽,近年来,由于它们对血糖控制的显着影响,减轻体重,和心血管健康。由于这些药物的成功减肥,许多先前被诊断为月经少且无法怀孕的妇女在服用药物时经历了计划外怀孕。然而,目前很少有数据可供临床医生在意外的围概念暴露病例中为患者提供咨询.在一些研究中检查怀孕时暴露于GLP-1RAs的小动物,有证据表明后代有不良后果,包括胎儿生长减少,骨骼和内脏异常,和胚胎死亡。虽然没有人类的前瞻性研究,病例报告,队列研究,基于人群的研究没有显示婴儿先天性异常的模式。最近的一大,观察,基于人群的队列研究检查了938例受T2DM影响的妊娠,并比较了GLP-1RAs和胰岛素的感知暴露结局.作者得出结论,服用GLP-1RAs的患者发生重大先天性畸形的风险并没有显著增加。尽管没有关于母体血糖控制或糖尿病胎儿病变的信息。由于糖尿病胚胎病变与母体高血糖程度直接相关,而与糖尿病本身的诊断无关。没有这些信息就不可能得出这个结论。此外,关于胎儿生长受限的证据很少,胚胎或胎儿死亡,或其他潜在的并发症。此时,应该建议患者没有足够的证据来预测任何不良反应,或缺乏,怀孕期间GLP-1RAs的感知暴露。我们建议所有患者在服用GLP-1RA时使用避孕药来防止意外怀孕。
    Glucagon-like peptide-1 receptor agonists (GLP-1RAs) are peptide analogues that are used to treat type 2 diabetes mellitus (T2DM) and obesity. The first medication in this class, Exenatide, was approved in 2005, and these medications, specifically Semaglutide, have become more popular in recent years due to their pronounced effects on glycemic control, weight reduction, and cardiovascular health. Due to successful weight loss from these medications, many women previously diagnosed with oligomenorrhea and unable to conceive have experienced unplanned pregnancies while taking the medications. However, there is currently little data for clinicians to use in counseling patients in cases of accidental periconceptional exposure. In some studies examining small animals exposed to GLP-1RAs in pregnancy, there has been evidence of adverse outcomes in the offspring, including decreased fetal growth, skeletal and visceral anomalies, and embryonic death. Although there are no prospective studies in humans, case reports, cohort studies, and population-based studies have not shown a pattern of congenital anomalies in infants. A recent large, observational, population-based cohort study examined 938 pregnancies affected by T2DM and compared outcomes from periconceptional exposure to GLP-1RAs and insulin. The authors concluded there was not a significantly increased risk of major congenital malformations in patients taking GLP-1RAs, although there was no information on maternal glycemic control or diabetic fetopathy. As diabetic embryopathy is directly related to the degree of maternal hyperglycemia and not the diagnosis of diabetes itself, it is not possible to make this conclusion without this information. Furthermore, there is little evidence available regarding fetal growth restriction, embryonic or fetal death, or other potential complications. At this time, patients should be counseled there is not enough evidence to predict any adverse effects, or the lack thereof, of periconceptional exposure of GLP-1RAs during pregnancy. We recommend that all patients use contraception to prevent unintended pregnancy while taking GLP-1RAs.
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  • 文章类型: Journal Article
    这项研究的目的是提出管理,结果,Risk,和期望(更多)作为基于风险的分层,以通过对已发表文献的系统回顾来帮助产前父母咨询和决策。进行了符合系统评价和荟萃分析的系统评价的首选报告项目,包括涵盖儿科手术条件的产前咨询的文章。每个异常都征求了以下信息:受累的主要器官系统*-m,单系统或多系统异常,疾病的自然史,异常的标准管理,需要产前干预,以及异常是否需要改变产科管理。确定了22项符合纳入标准的研究,1993年至2023年。只有两项研究被发现有A级建议和I级证据。大多数研究都是评论文章/调查,6项研究为回顾性观察性研究.根据对征求信息的分析,异常被分成一组,随后将它们成熟成一个简化的更多分类方案,强调管理的重要性(10,45.45%),结果(9,40.90%),风险(9,40.90%),产前咨询期间的期望(10,45.45%)类别。胎儿结构异常的更多分类是一个简单但全面的框架,可以帮助医生和其他医务人员进行产前父母咨询和决策。
    The aim of this study was to propose Management, Outcome, Risk, and Expectation (MORE) as a risk based stratification to aid in antenatal parental counseling and decision making through a systematic review of published literature. A Preferred Reporting Items for Systematic Reviews and Meta Analyses compliant systematic review was conducted to include articles that covered antenatal counseling of pediatric surgical conditions. The following information was solicited for each anomaly: primary organ syste*-m of involvement, single or multi system anomaly, natural history of the disease, standard management of the anomaly, need for antenatal intervention, and whether the anomaly requires any alteration in the obstetric management. Twenty two studies were identified fulfilling the inclusion criteria, between 1993 and 2023. Only two studies were found to have GRADE A recommendation and Level I evidence. Most of the studies were review articles/ survey, and 6 studies were found to be retrospective observational studies. Based on the analysis of the solicited information, the anomalies were stratified into a group subsequently maturing them into a simplified MORE classification scheme which stressed the importance of Management (10, 45.45%), Outcome (9, 40.90%), Risk (9, 40.90%), and Expectation (10, 45.45%) categories during antenatal counseling. MORE classification of fetal structural anomalies is a simple but comprehensive framework to assist the physicians and other medical personnel antenatal parental counseling and decision making.
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  • 文章类型: Journal Article
    背景:通过超声检查可以在妊娠早期发现相当比例的主要胎儿结构异常。然而,作为全国产前筛查计划的一部分,在低风险人群中进行的妊娠早期异常扫描(FTAS)的检测性能未知.FTAS的潜在好处包括早期发现胎儿畸形,为父母提供更多的生育决策时间。
    目的:为了研究摄取,转诊后的测试表现和最终产前诊断的时间。
    方法:在荷兰进行了一项全国性的实施研究(2021年11月至2022年11月)。FTAS由认证的超声医师使用标准协议在妊娠12+3和14+3周之间进行。如果怀疑有异常情况,则将妇女转诊到三级护理中心。Uptake,确定了检测性能和最终产前诊断的时间(从转诊到生殖决策的最终诊断/预后之间的天数).对孕早期主要先天性异常的测试性能进行了计算,如无脑和全前脑和所有诊断异常<24周妊娠。
    结果:FTAS摄取为74.9%(129704/173129)。1.0%(1313/129704),有异常被怀疑,其中54.9%(n=721)在详细的孕早期诊断扫描中发现异常,44.6%(n=586)显示正常结果。在0.5%(n=6)中,发生宫内胎儿死亡。在总共721例有异常发现的患者中,332个结构异常,117个遗传异常,82个其他发现(胎儿生物测量异常,sonomarkers,胎盘/脐带异常,羊水/羊水过少)和189例有一过性发现(定义为<24周妊娠的超声发现)被发现,一个结果未知的案例。所有FTAS正常的病例中有0.9%(n=1164)在孕中期被诊断为胎儿异常。测试性能包括对妊娠早期主要先天性异常的敏感性为84.6%(126/149),对所有类型的异常的敏感性为31.6%(537/1701)。所有异常的特异性为99.2%(98055/98830);阳性预测值40.9%(537/1312);阴性预测值98.8%(98055/99219);阳性似然比40.3;阴性似然比0.7;假阳性率0.8%(775/98830)和假阴性率68.4%(1164/1701)。诊断结构异常的中位时间为20天(6-43天;中位GA163),对于遗传异常17天(8.5-27.5天;中位GA15+6周)和妊娠早期主要先天性异常9天(5-22天;中位GA14+6周)。
    结论:新引入的全国FTAS在低风险人群中的表现对妊娠早期主要先天性异常具有较高的敏感性,对所有异常合并的敏感性较低。该计划伴随着1.0%的转诊率,其中59.1%涉及异常在妊娠24周前未得到确认或解决的病例。转诊病例的诊断时间约为妊娠16周。在全国产前筛查计划中评估FTAS的益处和潜在危害之间的平衡,随着时间的推移,评估该计划的有效性并考虑妇女及其伴侣的观点至关重要,以及医疗保健专业人员。
    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 performed in a low-risk population as part of a nationwide prenatal screening program is unknown. Potential benefits of the first-trimester anomaly scan include early detection of fetal anomalies, providing parents with more time for reproductive decision-making.
    OBJECTIVE: To investigate the uptake, test performance, and time to a final prenatal diagnosis after referral.
    METHODS: A nationwide implementation study was conducted in the Netherlands (November 2021-November 2022). The FTAS was performed between 12+3 and 14+3 weeks of 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 of gestation.
    RESULTS: The first-trimester anomaly scan uptake was 74.9% (129,704/173,129). In 1.0% (1313/129,704), 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), intrauterine 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 of gestation) were found, with 1 case having an unknown outcome. 0.9% (n=1164) of all cases with a normal first-trimester anomaly scan 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% (537/1312); 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% (1164/1701). The median time to diagnosis for structural anomalies was 20 days (6-43 days; median gestational age 16+3), for genetic anomalies 17 days (8.5-27.5 days; median gestational age 15+6 weeks), and for first-trimester major congenital anomalies 9 days (5-22 days; median gestational age 14+6 weeks).
    CONCLUSIONS: The performance of a newly introduced nationwide first-trimester anomaly scan 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 of gestation for referred cases. To evaluate the balance between benefits and potential harm of the first-trimester anomaly scan 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.
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  • 文章类型: Journal Article
    目的:我们报告了一项美国混合方法试点研究的结果,该研究是以胎儿护理中心以人为中心的护理(PCC-FCC)量表。
    方法:参与者,在2017年至2021年期间在美国胎儿保健中心(FCC)接受护理,完成了一份提供社会人口统计详细信息的在线问卷,关于所接受护理的细节,定性的经验,和来自PCC-FCC量表的分数。
    结果:参与者(n=247)PCC-FCC得分和定性反馈表明高度感知的以人为中心的护理(PCC),特别是在护理协调领域,尊重的照顾,和病人的教育。然而,8%得分低于中点,38%的评论是负面的,特别是关于期望设定,为干预后孕产妇健康做准备,和社会心理支持。与私人保险相比,公共保险与更高的总PCC-FCC(p=0.03)和因子2得分(p=0.02)相关。定性主题信任,清晰度,全面护理,同情,并进一步阐明了PCC在FCC中的概念。
    结论:PCC-FCC规模试点研究显示,FCC的总体PCC表现强劲,然而,患者体验的可变性表明需要改进的地方,包括期望设置,为干预后孕产妇健康做准备,和社会心理支持。未来的研究必须优先考虑不同的样本和持续的混合方法,以更好地理解保险的作用,并确定其他潜在的差距,确保FCC患者群体的全面代表性。
    OBJECTIVE: We report findings from a U.S. mixed-methods pilot study of the Person-Centered Care in Fetal Care Centers (PCC-FCC) Scale.
    METHODS: Participants, who received care at a U.S. Fetal Care Center (FCC) between 2017 and 2021, completed an online questionnaire providing sociodemographic details, specifics about the care received, qualitative experiences, and scores from the PCC-FCC Scale.
    RESULTS: Participants\' (n = 247) PCC-FCC scores and qualitative feedback indicate high perceived person-centered care (PCC), particularly in areas of care coordination, respectful care, and patient education. However, 8% scored below the midpoint, and 38% of comments were negative, especially regarding expectation setting, preparation for post-intervention maternal health, and psychosocial support. Public insurance was associated with higher total PCC-FCC (p = 0.03) and Factor 2 scores (p = 0.02) compared to those with private insurance. The qualitative themes trust, clarity, comprehensive care, compassion, and belonging further elucidate the concept of PCC in FCCs.
    CONCLUSIONS: The PCC-FCC Scale pilot study revealed strong overall PCC in FCCs, yet variability in patient experiences suggests areas needing improvement, including expectation setting, preparation for post-intervention maternal health, and psychosocial support. Future research must prioritize diverse samples and continued mixed methodologies to better understand the role of insurance and identify other potential disparities, ensuring comprehensive representation of the FCC patient population.
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  • 文章类型: Journal Article
    及时识别胎儿状况,可以进行全面评估,咨询,产后规划,和产前治疗。这项研究评估了有关健康的社会决定因素(SDOH)如何影响适合胎儿护理中心(FCC)护理的胎儿状况的诊断时机的现有证据。符合条件的研究在美国进行,并在1999年后以英文发表。我们采用健康人2020SDOH框架对16项研究的数据进行分类和分析,其中86%仅集中在先天性心脏病(CHD)。研究主要集中在个体水平的SDOH,只有36%的人解决了结构层面的因素。总共确定了31个不同的SDOH指标,68%是个人研究所独有的。指标通常在定义和具体方面有所不同。三项研究涵盖了“2020年健康人框架”中的所有五个SDOH类别。研究揭示了与SDOH指标的不同且经常相互冲突的关联,种族和民族是探索最多的(100%),其次是社会经济地位(69%),产妇年龄(57%),居住地(43%),和结构因素(29%)。我们的发现强调了需要更全面的研究,包括冠心病以外的条件,并就SDOH指标达成共识。这些努力对于更深入地了解导致胎儿诊断和治疗差异的潜在因素是必要的。
    Timely identification of fetal conditions enables comprehensive evaluation, counseling, postnatal planning, and prenatal treatments. This study assessed the existing evidence on how social determinants of health (SDOH) influence diagnosis timing of fetal conditions appropriate for care in fetal care centers (FCCs). Eligible studies were conducted in the U.S. and published in English after 1999. We employed the Healthy People 2020 SDOH framework to categorize and analyze data from 16 studies, where 86% focused solely on congenital heart disease (CHD). Studies primarily focused on individual-level SDOH, with only 36% addressing structural-level factors. A total of 31 distinct indicators of SDOH were identified, with 68% being unique to individual studies. Indicators often varied in definition and specificity. Three studies covered all five SDOH categories in the Healthy People 2020 Framework. Studies revealed varying and often conflicting associations with SDOH indicators, with race and ethnicity being the most explored (100%), followed by socioeconomic status (69%), maternal age (57%), residence (43%), and structural factors (29%). Our findings highlight the need for more comprehensive research, including conditions beyond CHD, and the establishment of consensus on indicators of SDOH. Such efforts are necessary to gain a deeper understanding of the underlying factors driving disparities in fetal diagnosis and treatment.
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  • 文章类型: Journal Article
    背景:此产前筛查审查将包括生殖筛查证据以及受孕前和受孕后的方法,利用第一至第三三个月的筛查机会。
    方法:对同行评审的重点产前筛查出版物进行评估和总结。
    结果:应提供并讨论基于证据的生殖产前筛查要素,与怀孕计划或怀孕的人,在孕前(生殖伴侣的遗传载体筛查,个人和家庭(包括生殖伴侣)病史审查,以了解增加的遗传和妊娠发病风险);孕早期(超声检查胎儿约会;胎儿非整倍体筛查以及考虑扩大的胎儿发病率标准,如果合适;孕妇先兆子痫筛查;早期胎儿解剖筛查;早期胎儿心脏筛查);妊娠中期标准胎儿解剖筛查(18-22周),包括心脏;孕妇胎盘和脐带病理学筛查;孕妇早产筛查,宫颈长度测量);妊娠中期(胎儿生长监测;持续早产风险监测)。
    结论:产前生殖筛查具有多个要素,是复杂的,是耗时的,并要求对大多数筛查要素使用测试前和测试后咨询。使用孕前和“一到三个月”需要明确的患者理解和接受。知情同意和知识转移是产前生殖筛查方法的主要目标。
    BACKGROUND: This antenatal screening review will include reproductive screening evidence and approaches for pre-conception and post-conception, using first to third trimester screening opportunities.
    METHODS: Focused antenatal screening peer-reviewed publications were evaluated and summarized.
    RESULTS: Evidenced-based reproductive antenatal screening elements should be offered and discussed, with the pregnancy planning or pregnant person, during Preconception (genetic carrier screening for reproductive partners, personal and family (including reproductive partner) history review for increased genetic and pregnancy morbidity risks); First Trimester (fetal dating with ultrasound; fetal aneuploidy screening plus consideration for expanded fetal morbidity criteria, if appropriate; pregnant person preeclampsia screening; early fetal anatomy screening; early fetal cardiac screening); Second Trimester for standard fetal anatomy screening (18-22 weeks) including cardiac; pregnant person placental and cord pathology screening; pregnant person preterm birth screening with cervical length measurement); Third Trimester (fetal growth surveillance; continued preterm birth risk surveillance).
    CONCLUSIONS: Antenatal reproductive screening has multiple elements, is complex, is time-consuming, and requires the use of pre- and post-testing counselling for most screening elements. The use of preconception and trimesters \'one to three\' requires clear patient understanding and buy-in. Informed consent and knowledge transfer is a main goal for antenatal reproductive screening approaches.
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  • 文章类型: Journal Article
    背景:由于胎儿异常而决定终止妊娠可能会产生重大的情绪影响,尤其是在妊娠中期。以前关于终止妊娠的心理后果的研究有局限性,对伴侣的结局和胎儿捐献的影响知之甚少。因此,我们旨在调查终止中期妊娠的心理影响,并确定与女性和男性结局相关的因素。包括将胎儿遗体捐献给科学.
    方法:在荷兰阿姆斯特丹UMC进行了一项纵向队列研究,涉及在妊娠23周和6天或之前终止妊娠的妇女和伴侣。在终止时进行问卷调查,6周,4个月后。我们利用经过验证的问卷来评估心理发病率(悲伤,创伤后应激和产后抑郁和生活质量[QoL]),以及可能影响结果的因素。
    结果:在241名参与者中,女性比男性表现出更明显的心理困扰,虽然两组都随着时间的推移而改善。终止合同四个月后,27.4%的女性和9.1%的男性表现出病理性悲伤的迹象。19.8%的女性和4.1%的男性发生了产后抑郁症的得分。既往精神病史是预后较差的一致预测因素。向荷兰胎儿生物库捐赠胎儿与终止后四个月出现复杂悲伤症状的可能性降低有关。
    结论:妊娠中期因胎儿畸形而终止妊娠可导致心理并发症,尤其是女性。然而,随着时间的推移,两组都有显著的改善。有精神病史的人在终止后似乎更容易受到伤害。此外,向科学捐赠胎儿对心理健康没有负面影响。
    BACKGROUND: The decision to terminate a pregnancy due to fetal anomalies can have a significant emotional impact, especially in second-trimester terminations. Previous studies on the psychological consequences of pregnancy termination have had limitations, and little is known about the outcomes for partners and the impact of fetal donation. Therefore, we aimed to investigate the psychological effects of second-trimester pregnancy termination and identify factors associated with outcomes in both women and men, including donation of fetal remains to science.
    METHODS: A longitudinal cohort study was conducted at the Amsterdam UMC in the Netherlands, involving women and partners who underwent termination at or before 23 weeks and 6 days of gestation. Questionnaires were administered at termination, 6 weeks, and 4 months after. We utilized validated questionnaires to assess psychological morbidity (grief, post-traumatic stress and postnatal depression and quality of life [QoL]), and factors that could potentially influence outcomes.
    RESULTS: Of 241 participants, women displayed more pronounced psychological distress than men, though both groups improved over time. Four months after termination, 27.4% of women and 9.1% of men showed signs of pathological grief. Scores indicative for postnatal depression occurred in 19.8% women and 4.1% of men. A prior psychiatric history was a consistent predictor of poorer outcomes. Fetal donation to the Dutch Fetal Biobank was associated with reduced likelihood of symptoms of complicated grief four months after termination.
    CONCLUSIONS: Second-trimester termination of pregnancy for fetal anomalies can lead to psychological morbidity, particularly in women. However, there is a notable improvement over time for both groups. Individuals with prior psychiatric history appear more vulnerable post-termination. Also, fetal donation to science did not have a negative impact on psychological well-being.
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  • 文章类型: Journal Article
    背景:用于基因诊断的羊膜穿刺术通常在妊娠15至22周之间进行,但可以在以后的胎龄进行。羊膜穿刺术的安全性和遗传诊断准确性已通过许多大规模,24周前手术的多中心研究,但是晚期羊膜穿刺术的综合数据仍然很少。
    目的:为了评估适应症,诊断产量,安全,以及与妊娠24周或以后进行羊膜穿刺术相关的母体和胎儿结局。
    方法:我们进行了一项国际,多中心回顾性队列研究,对在孕龄24w0d至36w6d时接受羊膜穿刺术进行产前诊断检测的孕妇进行检查.这项研究,从2011年到2022年,涉及9个转诊中心。我们包括单胎或双胎妊娠,结果有记录,不包括在怀孕期间进行其他侵入性手术或为产科适应症进行羊膜穿刺术的病例。我们分析了晚期羊膜穿刺术的适应症,进行的基因测试类型,他们的结果,和诊断结果,以及妊娠结局和术后并发症。
    结果:在我们研究的752名孕妇中,晚期羊膜穿刺术主要用于结构异常的产前诊断(91.6%),其次是疑似胎儿感染(2.3%)和无细胞DNA筛查的高危结果(1.9%).手术时的中位胎龄为28w5d,98.3%的孕妇在出生或终止妊娠前接受了基因检测结果。诊断率为22.9%,与单器官系统异常的胎儿(15.3%)相比,多器官系统异常的胎儿的诊断频率高2.4倍(36.4%)。此外,诊断结果取决于所涉及的特定器官系统,当单个器官系统或实体受到影响时,肌肉骨骼异常(36.7%)和胎儿水肿(36.4%)的产量最高。最普遍的基因诊断是非整倍体(46.8%),其次是拷贝数变异(26.3%)和单基因疾病(22.2%)。分娩时的中位胎龄为38w3d,从程序到交货日期之间平均为59天。术后2周内总并发症发生率为1.2%。我们发现在24-28周和28-32周之间进行羊膜穿刺术的孕妇之间早产率没有显着差异,在这些妊娠期加强手术的安全性。
    结论:晚期羊膜穿刺术,在妊娠24周时或之后,尤其是妊娠合并多种先天性异常,诊断率高,并发症发生率低,强调其临床实用性。它在分娩前为孕妇及其提供者提供全面的诊断评估和结果,使知情的咨询和优化围产期和新生儿护理计划。
    BACKGROUND: Amniocentesis for genetic diagnosis is most commonly done between 15 and 22 weeks of gestation but can be performed at later gestational ages. The safety and genetic diagnostic accuracy of amniocentesis have been well-established through numerous large-scale multicenter studies for procedures before 24 weeks, but comprehensive data on late amniocentesis remain sparse.
    OBJECTIVE: To evaluate the indications, diagnostic yield, safety, and maternal and fetal outcomes associated with amniocentesis performed at or beyond 24 weeks of gestation.
    METHODS: We conducted an international multicenter retrospective cohort study examining pregnant individuals who underwent amniocentesis for prenatal diagnostic testing at gestational ages between 24w0d and 36w6d. The study, spanning from 2011 to 2022, involved 9 referral centers. We included singleton or twin pregnancies with documented outcomes, excluding cases where other invasive procedures were performed during pregnancy or if amniocentesis was conducted for obstetric indications. We analyzed indications for late amniocentesis, types of genetic tests performed, their results, and the diagnostic yield, along with pregnancy outcomes and postprocedure complications.
    RESULTS: Of the 752 pregnant individuals included in our study, late amniocentesis was primarily performed for the prenatal diagnosis of structural anomalies (91.6%), followed by suspected fetal infection (2.3%) and high-risk findings from cell-free DNA screening (1.9%). The median gestational age at the time of the procedure was 28w5d, and 98.3% of pregnant individuals received results of genetic testing before birth or pregnancy termination. The diagnostic yield was 22.9%, and a diagnosis was made 2.4 times more often for fetuses with anomalies in multiple organ systems (36.4%) compared to those with anomalies in a single organ system (15.3%). Additionally, the diagnostic yield varied depending on the specific organ system involved, with the highest yield for musculoskeletal anomalies (36.7%) and hydrops fetalis (36.4%) when a single organ system or entity was affected. The most prevalent genetic diagnoses were aneuploidies (46.8%), followed by copy number variants (26.3%) and monogenic disorders (22.2%). The median gestational age at delivery was 38w3d, with an average of 59 days between the procedure and delivery date. The overall complication rate within 2 weeks postprocedure was 1.2%. We found no significant difference in the rate of preterm delivery between pregnant individuals undergoing amniocentesis between 24 and 28 weeks and those between 28 and 32 weeks, reinforcing the procedure\'s safety across these gestational periods.
    CONCLUSIONS: Late amniocentesis, at or after 24 weeks of gestation, especially for pregnancies complicated by multiple congenital anomalies, has a high diagnostic yield and a low complication rate, underscoring its clinical utility. It provides pregnant individuals and their providers with a comprehensive diagnostic evaluation and results before delivery, enabling informed counseling and optimized perinatal and neonatal care planning.
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  • 文章类型: Case Reports
    在染色体异常筛查的中期可以检测到大多数胎儿异常。然而,即使是有经验的超声医师在筛查过程中也可能没有注意到胎儿颈部肿块,并在稍后的时间点被诊断出来。在这个案例报告中,我们对一例产前超声检查中偶然发现的胎儿颈部肿块病例进行了随访,并进行了产后超声和对比增强计算机断层扫描.
    Most fetal anomalies can be detected during the second trimester of chromosomal anomaly screening. However, even an experienced sonographer might fail to notice a fetal neck mass during this screening and would be diagnosed at a later point in time. In this case report, we have followed up on an incidentally detected case of fetal neck mass on antenatal sonography with post-delivery ultrasound and contrast-enhanced computed tomography.
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  • 文章类型: Journal Article
    本范围审查通过研究和分析全球堕胎禁令或限制的报道影响,解决了美国堕胎限制的潜在孕产妇健康结果。目的是检查由于施加的限制而无法流产具有严重医学异常的胎儿的孕妇的医学意义。EMBASE,Medline,在2022年Roev.Wade案被推翻之前,在任何国家搜索了以英文发表的关于堕胎限制的医学影响的研究和CINAHL数据库。对于使用布尔运算符的搜索条件,关键词包括术语“胎儿异常,\"\"堕胎禁令,“和”含义。“纳入标准纳入了1980年至2021年发表的研究,旨在评估干预措施的对照实验研究被排除在外。这导致了最初发现的469条记录。已删除重复的记录,并进行了两次单独的层级审查。11名审稿人独立筛选了332条记录的摘要和标题,以确定资格。资格包括被诊断为胎儿异常的孕妇,妇女被剥夺了安全堕胎的机会,以及这对产妇和胎儿的医疗影响。在第二次筛选中,三名审稿人独立阅读了36篇文章,以进一步评估资格,最终审查了14篇文章。这项研究的结果表明,世界各国的堕胎禁令导致寻求非法堕胎服务的妇女出现健康并发症,产妇心理健康下降,包括压力和抑郁,各种医疗并发症,如难产,以及出生时出现严重缺陷的高风险胎儿增加。这项审查的结果预示着在美国受更严格的堕胎法约束的妇女将经历类似的负面后果
    This scoping review addresses the potential maternal health outcomes of abortion restrictions in the U.S. by studying and analyzing the reported effects of abortion bans or limitations globally. The goal was to examine the medical implications for pregnant women who are unable to abort fetuses that have severe medical anomalies due to imposed restrictions. EMBASE, Medline, and CINAHL databases were searched for studies published in English concerning the medical implications of abortion restrictions in any country prior to the overturn of Roe v. Wade in 2022. For the search criteria using Boolean operators, keywords included the terms \"fetal anomaly,\" \"abortion ban,\" and \"implications.\" Inclusion criteria incorporated studies published between 1980 and 2021, and controlled experimental research studies aimed to evaluate interventions were excluded. This resulted in 469 records initially found. Duplicate records were removed, and two separate tier reviews were conducted. Eleven reviewers independently screened abstracts and titles of 332 records to ascertain eligibility. Eligibility included pregnant women diagnosed with fetal anomalies, women denied access to safe abortions, and the maternal and fetal medical impacts of this. Three reviewers in the second screening independently read 36 full articles to further assess eligibility, resulting in 14 articles in the final review. Findings from this study showed that abortion bans in countries around the world have led to health complications in women seeking illegal abortion services, a decline in maternal mental health, including stress and depression, various medical complications such as obstructed labor, and an increase in high-risk fetuses born with severe deficits. The findings of this review portend similar negative consequences to be experienced by women who are subject to stricter abortion laws in the U.S.
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