Fetal Diagnosis and Therapy最新文献

Introduction: Spontaneous septostomy is a rare complication of multiple gestations. Related complications include cord entanglement and preterm delivery. Limited data exist to guide the management of these high-risk patients. The majority of spontaneous septostomy cases have been reported in monochorionic diamniotic twins. We present 2 cases of spontaneous septostomy occurring in a monochorionic/dichorionic hybrid twin gestation (chorionicity transitions from dichorionicity to monochorionicity within the placenta) and in a dichorionic triamniotic triplet gestation.

Case presentation: Case 1 was a monochorionic/dichorionic hybrid twin gestation with a septostomy complicated by fetal parts of one twin protruding into the co-twin's sac as well as symptomatic polyhydramnios. Fetal magnetic resonance imaging confirmed the septostomy. Case 2 was a dichorionic triamniotic triplet gestation with septostomy and cord entanglement. Both patients were managed akin to a pseudo-monoamniotic gestation with serial ultrasound surveillance and eventual inpatient admission for heightened fetal monitoring. Case 1 underwent elective scheduled cesarean delivery at 33 weeks, and case 2 underwent emergent cesarean delivery for fetal heart rate decelerations at 28 weeks.

Conclusion: With a high degree of clinical suspicion, spontaneous septostomy can be diagnosed in uncommon settings such as hybrid twin gestations and higher order multiples. Management of such patients is individualized and may include a combination of heightened outpatient and inpatient surveillance.

Introduction: Fetal magnetic resonance imaging (MRI) lung volume nomograms are increasingly used to prognosticate neonatal outcomes in fetuses with suspected pulmonary hypoplasia. However, pregnancies complicated by fetal anomalies associated with pulmonary hypoplasia may also be complicated by fetal growth restriction (FGR). If a small lung volume is suspected in such cases, it is often unclear whether the lungs are "small" because of underlying lung pathology, or small fetal size. Existing MRI lung volume nomograms have mostly been stratified by gestational age (GA), rather than estimated fetal weight (EFW). Therefore, we aimed to develop a novel fetal lung volume nomogram stratified by EFW.

Methods: Consecutive fetal MRIs performed at a quaternary medical center from 2019 to 2021 were analyzed. MRIs performed due to fetal lung anomalies and cases with FGR were excluded. All MRIs were performed without IV contrast on GE 3 or 1.5 Tesla scanners (GE Healthcare). Images were reviewed by three experienced fetal radiologists. Freehand ROI in square centimeter was drawn around the contours of the lungs on consecutive slices from the apex to the base. The volume of the right, left and total lungs were calculated in mL. Lung volumes were plotted by both EFW and GA.

Results: Among 301 MRI studies performed during the study period, 170 cases met inclusion criteria and were analyzed. MRIs were performed between 19- and 38-week gestation, and a sonographic EFW was obtained within a mean of 2.9 days (SD ± 5.5 days, range 0-14 days) of each MRI. Nomograms stratified by both EFW and GA were created using 200 g. and weekly intervals respectively. A formula using EFW to predict total lung volume was calculated: LV = 0.07497804 EFW0.88276 (R2 = 0.87).

Conclusions: We developed a novel fetal lung volume nomogram stratified by EFW. If validated, this nomogram may assist clinicians predict outcomes in cases of fetal pulmonary hypoplasia with concomitant FGR.

Introduction: Three-dimensional fractional moving blood volume (3D-FMBV) may provide superior noninvasive measurement of feto-placental perfusion compared to current methods. This study investigated the feasibility and repeatability of producing 3D-FMBV measurements of the placenta, fetal liver, kidney, and brain in a single ultrasound consultation.

Methods: The placenta, fetal liver, kidney, and brain were scanned in triplicate using 3D power Doppler ultrasound (3D-PDU) in 48 women ≥22 weeks of gestation with healthy fetuses. 3D-FMBV was calculated by two analyzers. Feasibility was assessed as the percentage of cases where 3D-FMBV could be evaluated; repeatability (intraobserver and interobserver) using two-way mixed measure intraclass correlation coefficients (ICCs).

Results: 3D-FMBV was calculated for 100% of scanned organs. Intraobserver ICCs (95% CI) were good to excellent; 0.93 (0.88-0.96) and 0.87 (0.78-0.92) for placenta, 0.95 (0.92-0.97) and 0.98 (0.96-0.99) for fetal liver, 0.96 (0.94-0.98) and 0.91 (0.85-0.95) for fetal kidney, and 0.98 (0.97-0.99) and 0.97 (0.95-0.98) for fetal brain. Interobserver ICCs (95% CI) were 0.50 (0.08-0.73), 0.92 (0.85-0.96), 0.89 (0.78-0.94), and 0.71 (0.46-0.85) for placenta, fetal liver, kidney, and brain.

Conclusion: Feto-placental perfusion assessment with 3D-FMBV is highly reliable in healthy pregnancies ≥22 weeks of gestation and can be feasibly calculated in four feto-placental vascular beds in a single ultrasound consultation.

Introduction: The Fetal Medicine Foundation (FMF) London developed a first trimester combined screening algorithm for preterm preeclampsia (pPE) that allows a significantly higher detection of pregnancies at risk compared to conventional screening by maternal risk factors only. The aim of this trial is to validate this screening model in the Swiss population in order to implement this screening into routine first trimester ultrasound and to prescribe low-dose aspirin 150 mg (LDA) in patients at risk for pPE. Therefore, a multicentre registry study collecting and screening pregnancy outcome data was initiated in 2020; these are the preliminary results.

Methods: Between June 1, 2020, and May 31, 2021, we included all singleton pregnancies with pPE screening at the hospitals of Basel, Lucerne, and Bern. Multiple of medians of uterine artery pulsatility index (UtA-PI), mean arterial pressure (MAP), placental growth factor (PlGF), and pregnancy-associated plasma protein A (PAPP-A) as well as risks were analysed as calculated by each centre's software and recalculated on the FMF online calculator for comparative reasons. Statistical analyses were performed by GraphPad Version 9.1.

Results: During the study period, 1,027 patients with singleton pregnancies were included. 174 (16.9%) had a risk >1:100 at first trimester combined screening. Combining the background risk, MAP, UtA-PI, and PlGF only, the cut-off to obtain a screen positive rate (SPR) of 11% is ≥1:75. Outcomes were available for 968/1,027 (94.3%) of all patients; 951 resulted in live birth. Fifteen (1.58%) developed classical preeclampsia (PE), 23 (2.42%) developed PE according to the International Society for the Study of Hypertension in Pregnancy (ISSHP) definition.

Conclusion: First trimester combined screening for PE and prevention with LDA results in a low prevalence of PE. The screening algorithm performs according to expectations; however, the cut-off of >1:100 results in a SPR above the accepted range and a cut-off of ≥1:75 should be considered for screening. More data are needed to evaluate, if these results are representative for the general Swiss population.

Introduction: Large congenital neck tumors can cause neonatal death due to airway obstruction. The aim of this study was to report outcomes of the first cohort of fetuses with neck masses and suspected airway obstruction managed with fetal laryngoscopy (FL) and fetal endoscopic tracheal intubation (FETI) to secure fetal airways and avoid ex utero intrapartum treatment (EXIT) procedure.

Methods: A prospective observational cohort of consecutive fetuses with neck masses that were candidates for an EXIT procedure due to suspicion of laryngeal and/or tracheal occlusion on ultrasonographic (US) or magnetic resonance imaging (MRI) examination were recruited for FL in a tertiary referral center in Queretaro, Mexico. FETI was performed if the obstruction was confirmed by FL. Maternal and perinatal outcomes were evaluated.

Results: Between January 2012 and March 2023, 35 cases with neck masses were evaluated. Airway obstruction was suspected in 12/35 (34.3%), either by US in 10/35 (28.6%) or by fetal MRI in 2/35 (5.7%). In all cases, FL was successfully performed at the first attempt at a median gestational age (GA) of 36+5 (range, 33+5-39+6) weeks+days, with a median surgical time of 22.5 (12-35) min. In 4 cases, airway patency was confirmed during FL and an EXIT procedure was avoided. In 8/12 cases (66.7%), airway obstruction was confirmed during fetoscopy and FETI was successfully performed at a median GA of 36+3 (33+2-38+5) weeks+days, with a median surgical time of 25.0 (range, 12-45) min. No case required an EXIT procedure. All patients underwent conventional cesarean delivery with no maternal complications and all neonates were admitted to the neonatal intensive care unit with a correctly positioned endotracheal tube (ETT) immediately after delivery. Three neonatal deaths (37.5%) were reported due to postnatal unplanned extubation, failed ETT replacement, and tumoral bleeding.

Conclusion: In fetuses with neck masses and suspected airway obstruction, FL and FETI are feasible and could replace EXIT procedures with good maternal and perinatal outcomes.

Introduction: The current retrospective case-control study evaluates the diagnostic value of screening for a fetal cleft palate by using the ultra-sound-based observation of the "superimposed-line" sign appearing at the junction of the vomer and maxilla in the first trimester of pregnancy.

Methods: Retrospective analyses were performed of ultrasonographic images of nuchal translucency obtained during the first trimester of pregnancy (11-13+6 weeks) from 45 fetuses with a cleft palate later confirmed following parturition or induced labor (cases) and 4,500 normal fetuses confirmed after parturition (controls). Ultrasonographic features of the "superimposed-line" sign were observed and recorded, and between-group comparisons were performed.

Results: The "superimposed-line" sign was absent in 39 cases (86.67%), including 4 (8.89%) with simple secondary hard palate cleft and 35 (77.78%) with secondary hard palate cleft complicated by a primary cleft palate. The "superimposed-line" sign was shown in 6 cases (13.33%), including 2 (4.44%) with a simple secondary soft palate cleft, 1 (2.22%) with a simple secondary bifid uvula, and 3 (6.67%) with a simple primary cleft palate. Among the 4,500 controls, 31 fetuses showed an absence of the "superimposed-line" sign (0.69%) and 4,469 showed the "superimposed-line" sign (99.31%). The between-group difference was significant (p < 0.05). The sensitivity, specificity, positive predictive value, and negative predictive values of the "superimposed-line" sign in the first trimester of pregnancy for predicting fetal cleft palate were 86.67% (39/45), 99.31% (4,469/4,500), 55.71% (39/70), and 99.86% (4,469/4,475), respectively.

Conclusion: The "superimposed-line" sign did not appear in fetuses with secondary hard palate cleft and primary cleft palate only when a secondary hard palate cleft is present. The sign appeared in normal fetuses and those with a simple primary cleft palate, simple secondary soft palate cleft, or a simple secondary bifid uvula. Based on these results, we propose that the "superimposed-line" sign in the mid-sagittal plane of the fetal face in the first trimester of pregnancy (11-13+6 weeks) is an important tool in screening for fetal cleft palate, especially secondary hard palate cleft.

Introduction: Gómez-López-Hernández syndrome (GLHS), also known as cerebello-trigeminal-dermal dysplasia, is an extremely rare neurocutaneous disease, classically described by the triad of rhombencephalosynapsis (RES), bilateral focal alopecia, and trigeminal anesthesia. The clinical and radiographic spectrum of GLHS is now known to be broader, including craniofacial and supratentorial anomalies, as well as neurodevelopmental issues.

Case presentation: Here, we present a case of antenatally diagnosed GLHS with RES, hydrocephaly, and craniofacial anomalies identified on ultrasound (low-set ears with posterior rotation, hypertelorism, midface hypoplasia, micrognathia, and anteverted nares) which were confirmed by autopsy after termination of pregnancy at 23 weeks of gestation.

Discussion: As no known genetic causes have been identified and the classical triad is not applicable to prenatal imaging, prenatal diagnosis of GLHS is based on neuroimaging and the identification of supporting features. In presence of an RES associated with craniofacial abnormalities in prenatal (brachycephaly, turricephaly, low-set ears, midface retrusion, micrognathia), GLHS should be considered as "possible" according to postnatal criteria.