Fetal Diagnosis and Therapy最新文献

Introduction: Our aim was to develop and evaluate the performance of population-based sex-specific and unisex prescriptive fetal abdominal circumference growth charts in predicting small-for-gestational-age (SGA) birthweight, severe SGA (sSGA) birthweight, and severe adverse perinatal outcomes (SAPO) in a low-risk population.

Methods: This is a post hoc analysis of the Dutch nationwide cluster-randomized IRIS study, encompassing ultrasound data of 7,704 low-risk women. IRIS prescriptive unisex and IRIS sex-specific abdominal circumference (AC) fetal growth charts were derived using quantile regression. As a comparison, we used the descriptive unisex Verburg chart, which is commonly applied in the Netherlands. Diagnostic parameters were calculated based on the 34-36 weeks' ultrasound.

Results: Sensitivity rates for predicting SGA and sSGA birthweights were more than twofold higher based on the IRIS prescriptive sex-specific (respectively SGA 43%; sSGA 59%) and unisex (SGA 39%; sSGA 55%) charts, compared to the Verburg chart (SGA 16%; sSGA 23% both p < 0.01). Specificity rates were highest for Verburg (SGA 99%; sSGA 98%) and lowest for IRIS sex-specific (SGA 94%; sSGA 92%). Results for predicting SGA with SAPO were similar for the prescriptive charts (44%), and again higher than the Verburg chart (20%). The IRIS sex-specific chart identified significantly more males as SGA and sSGA (respectively, 42%; 60%, p < 0.001) than the IRIS unisex chart (respectively, 35%; 53% p < 0.01).

Conclusion: Our study demonstrates improved performance of both the IRIS sex-specific and unisex prescriptive fetal growth compared to the Verburg descriptive chart, doubling detection rates of SGA, sSGA, and SGA with SAPO. Additionally, the sex-specific chart outperformed the unisex chart in detecting SGA and sSGA. Our findings suggest the potential benefits of using prescriptive AC fetal growth charts in low-risk populations and emphasize the importance of considering customizing fetal growth charts for sex. Nevertheless, the increased sensitivity of these charts should be weighed against the decrease in specificity.

Introduction: The measurement of nuchal translucency (NT) is crucial for assessing risk of aneuploidies in the first trimester. We investigate the ability of NT assessed by a transverse view of the fetal head to detect fetuses at increased risk of common aneuploidies at 11-13 weeks of gestation.

Methods: We enrolled a nonconsecutive series of women who attended our outpatient clinic from January 2020 to April 2021 for aneuploidy screening by means of a first trimester combined test. All women were examined by operators certified by the Fetal Medicine Foundation. In each patient, NT measurements were obtained both from the median sagittal view and transverse view. We calculated the risk of aneuploidy using NT measurements obtained both with sagittal and axial scans, and then we compared the results.

Results: A total of 1,023 women were enrolled. An excellent correlation was found between sagittal and transverse NT measurements. The sensitivity and specificity of the axial scan to identify fetuses that were deemed at risk of trisomy 21 using standard sagittal scans were 40/40 = 100.0% (95% confidence interval [CI]: 91.2-100.0) and 977/983 = 99.4% (95% CI: 98.7-99.7), respectively. The sensitivity and specificity of the axial scan to identify fetuses at risk of trisomy 13 or 18 were 16/16 = 100.0% (95% CI: 80.6-100.0) and 1,005/1,007 = 99.8% (95% CI: 99.3-99.9).

Conclusions: When the sonogram, a part of combined test screening, is performed by an expert sonologist, axial views can reliably identify fetuses at increased risk of trisomies without an increase in false negative results.

Background: Pseudoamniotic band sequence (PABS) is a rare iatrogenic consequence of invasive fetal interventions, most commonly fetoscopic laser surgery (FLS) in monochorionic multiple pregnancies complicated by twin-to-twin transfusion syndrome (TTTS).

Objectives: The aim of this study was to investigate prenatal risk factors and perinatal outcomes for pregnancies involving PABS after FLS for TTTS and compare outcomes between those undergoing fetoscopic band release versus not.

Method: We conducted a systematic search of PubMed, Scopus, and Web of Science on studies reporting PABS following FLS for TTTS. A meta-analysis of pooled proportions was conducted.

Results: There were 16 studies covering 47 pregnancies complicated by PABS following FLS, mostly case series and case reports. The incidence of PABS was 2%, with the recipient twin affected in 94% of the cases. Pregnancies complicated by PABS were associated with inter-twin septostomy in 32% and chorioamniotic separation (CAS) in 90%. The mean gestational age (GA) at FLS and delivery were 17.7 and 30.9 weeks, respectively. Preterm premature rupture of membranes (PPROM) happened in 62% of pregnancies. The risk of preterm birth (PTB) <34 weeks, <32 weeks, and <28 weeks were 94%, 67%, and 31%, respectively. There were 41% fetal demises and 64% live births among the affected fetuses. Results of fetoscopic band release versus not were comparable, including GA at delivery, PPROM, and PTB at 32 weeks. It was noted that the likelihood of PTB by 28 weeks (67% vs. 23%) and fetal death (50% vs. 39%) were higher in the band release group. It was similar between groups in terms of postnatal amputation.

Conclusions: PABS causes amputations or fetal death in more than one-third of cases. Pregnancies with an inter-twin septostomy, CAS, advanced TTTS staging, and early GA are more likely to experience PABS. In addition, more than a third of FLS-treated TTTS resulted in PTB and PPROM. PABS cases with prenatal band release showed higher rates of PTB and fetal death, but the data were from small, heterogeneous studies.

Introduction: Randomized controlled trials found that fetoscopic endoluminal tracheal occlusion (FETO) resulted in increased fetal lung volume and improved survival for infants with isolated, severe left-sided congenital diaphragmatic hernia (CDH). The delivery room resuscitation of these infants is particularly unique, and the specific delivery room events are largely unknown. The objective of this study was to compare the delivery room resuscitation of infants treated with FETO to standard of care (SOC) and describe lessons learned.

Methods: Retrospective single-center cohort study of infants treated with FETO compared to infants who met FETO criteria during the same period but who received SOC.

Results: FETO infants were more likely to be born prematurely with 8/12 infants born <35 weeks gestational age compared to 3/35 SOC infants. There were 5 infants who required emergent balloon removal (2 ex utero intrapartum treatment and 3 tracheoscopic removal on placental bypass with delayed cord clamping) and 7 with prenatal balloon removal. Surfactant was administered in 6/12 FETO (50%) infants compared to 2/35 (6%) in the SOC group. Extracorporeal membrane oxygenation use was lower at 25% and survival was higher at 92% compared to 60% and 71% in the SOC infants, respectively.

Conclusion: The delivery room resuscitation of infants treated with FETO requires thoughtful preparation with an experienced multidisciplinary team. Given increased survival, FETO should be offered to infants with severe isolated left-sided CDH, but only in high-volume centers with the experience and capability of removing the balloon, emergently if needed. The neonatal clinical team must be skilled in managing the unique postnatal physiology inherent to FETO where effective interdisciplinary teamwork is essential. Empiric and immediate surfactant administration should be considered in all FETO infants to lavage thick airway secretions, particularly those delivered <48 h after balloon removal.

Introduction: Chorionic villus sampling (CVS) remains essential for first-trimester genetic diagnosis, yet clinical volume may be insufficient to train new clinicians in the technique. Available simulation models are expensive, require animal parts or specialized resins, and cannot be stored for repeated use.

Methods: We present a model for trans-abdominal CVS (TA-CVS) which is constructed from readily available materials costing less than $10 and can be refrigerated and re-used to train maternal-fetal medicine fellows in CVS.

Results: All three attending physicians performing TA-CVS at our institution described the model as an accurate visual and tactile simulation, prompting its integration into our fellowship curriculum. To date, two senior fellows have achieved competency on the simulator and begun to perform clinical CVS under supervision, one of whom is an author on this paper. Both fellows and attendings indicated that the simulator provided a valuable tool for repeated practice prior to clinical CVS. Simulators are now maintained on the unit and have been re-used for 3 months and dozens of simulated procedures each without any apparent qualitative degradation in performance.

Discussion/conclusion: We describe a low-cost easily constructed, durable, high-fidelity simulator for TA-CVS.

Introduction: This study aimed to evaluate the impact of third-trimester post-coital bleeding (PCB) on pregnancy outcomes.

Methods: A retrospective cohort study was conducted at two tertiary medical centers, including all pregnant women between 24 and 34 weeks of gestation referred due to vaginal bleeding over an 11-year period. The study population includes all singleton deliveries; within this population, women were further classified into three groups: those admitted due to vaginal bleeding related to PCB, those admitted due to vaginal bleeding not related to PCB, and those who did not report vaginal bleeding. The primary outcome measure was delivery prior to 37 weeks of gestation, while secondary outcome measures included maternal and neonatal complications. Baseline characteristics of the two groups were compared.

Results: During the study period, there were a total of 51,698 deliveries. Among these, 230 cases involved bleeding between 24 and 34 weeks of gestation, 34 (14.8%) were identified as PCB, and 196 as bleeding unrelated to intercourse. In addition, 51,468 pregnancies without bleeding were analyzed as the general population for comparison. The incidence of preterm labor before 37 weeks of gestation was notably higher in both women with PCB (14.7%) and those with bleeding unrelated to coitus (20.9%) compared to the general population (5.6%); however, there was no statistically significant difference between the two bleeding groups (p = 0.403) while both were significantly different from the general population (p < 0.001). The odds ratio for preterm birth before 37 weeks of gestation after PCB was 3.29 (95% CI: 1.26-8.56, p = 0.0149). There were no significant differences between the PCB and bleeding unrelated to intercourse groups in terms of maternal and neonatal complications.

Conclusion: This study found that third-trimester PCB is a risk factor for preterm delivery, with rates similar to other causes of third-trimester bleeding but significantly higher than the general population without bleeding. These findings challenge the assumption that PCB is benign.

Introduction: Our aim was to investigate the incidence, comorbidities, and outcomes of fetuses with an elevated middle cerebral artery peak systolic velocity (MCA-PSV) >1.5 multiples of median (MoM), despite normal hemoglobin (Hgb) levels on fetal blood sampling (FBS).

Methods: A single-center observational retrospective cohort study of all fetuses undergoing FBS and MCA-PSV >1.5 MoM. Only those fetuses with no or mild anemia were included. Indications for Doppler assessment, associated anomalies, and neonatal outcomes were collected.

Results: Overall, 383 fetuses had an MCA-PSV >1.5 MoM and underwent FBS. Twenty-three (6%) fetuses met our inclusion criteria and had no or only mild anemia. Associations with elevated MCA-PSV were elucidated in 12 of the 23 cases (52.2%) and included mild anemia (n = 2), intracranial hemorrhage (n = 3), genetic disease (n = 1), idiopathic nonimmune hydrops (NIH, n = 1), hypoxic-ischemic encephalopathy (n = 1), maternal and or fetal acidosis (n = 3), and fetal growth restriction (n = 1). Favorable perinatal outcomes were observed in truly unexplained 11 cases with no additional anomalies (47.8%).

Conclusion: Elevated MCA-PSV >1.5 MoM with normal Hgb levels is seen in 6% of pregnancies undergoing FBS and is often associated with other significant maternal or fetal problems. Those with unexplained and isolated MCA-PSV elevation have normal outcomes.

Introduction: Spontaneous preterm birth complicates ∼7% of pregnancies and causes morbidity and mortality. Although infection is a common etiology, our understanding of the fetal immune system in vivo is limited. This study aimed to utilize T2-weighted imaging and T2* relaxometry (which is a proxy of tissue oxygenation) of the fetal spleen in uncomplicated pregnancies and in fetuses that were subsequently delivered spontaneously prior to 32 weeks.

Methods: Women underwent imaging including T2-weighted fetal body images and multi-eco gradient echo single-shot echo planar sequences on a Phillips Achieva 3T system. Previously described postprocessing techniques were applied to obtain T2- and T2*-weighted imaging of the fetal spleen and T2-weighted fetal body volumes.

Results: Among 55 women with uncomplicated pregnancies, an increase in fetal splenic volume, splenic:body volume, and a decrease in splenic T2* signal intensity was demonstrated across gestation. Compared to controls, fetuses who were subsequently delivered prior to 32 weeks' gestation (n = 19) had a larger spleen when controlled for the overall size of the fetus (p = 0.027), but T2* was consistent (p = 0.76).

Conclusion: These findings provide evidence of a replicable method of studying the fetal immune system and give novel results on the impact of impending preterm birth on the spleen. While T2* decreases prior to preterm birth in other organs, preservation demonstrated here suggests preferential sparing of the spleen.

Background: The beginning of the conflict in Ukraine has reminded Europeans of the many and diverse consequences of armed conflicts. Indeed, the ever more sophisticated conflicts have led to the diffusion of numerous chemicals whose consequences spread even after the end of the war. We present through this paper a review of the consequences of pregnancies from the major conflicts that took place since the end of World War II.

Summary: MEDLINE, Web of Science, and Embase were screened for articles linking perinatal death (PD) or birth defects (BD) to wartime. A total of 50 papers treating 8 countries and 4 major and medically documented conflicts were included in the final analysis. An increase in BD and PD during and after the end of the conflicts was reported through all the conflicts analyzed.

Key message: While more data are needed to conclude, maternal-fetal medicine specialists ought to be wary when dealing with exposed populations.