Fetal Diagnosis and Therapy最新文献

Introduction Congenital cytomegalovirus (cCMV) is the main infectious cause of sensorineural hearing loss and neurodevelopmental disability. First-trimester and periconceptional period are the most vulnerable times for fetal injury. Universal serological cytomegalovirus (CMV) screening in pregnant women is not currently recommended. After a recent randomized controlled clinical trial that demonstrated a 70% reduction of vertical transmission with high-dose valacyclovir (VCV), a pilot first-trimester screening program was launched at our setting. Methods This epidemiological surveillance study was conducted at two tertiary hospitals in Barcelona. The primary outcome was to evaluate the results of the first two years of implementation of a universal first-trimester CMV screening program. The secondary outcome was to assess maternal seroprevalence, and the burden of primary infection during the fetal risk period in this population. IgG and IgM antibodies were determined in first-trimester pregnant women at the time of the Combined Test for aneuploidy. In those with positive IgG and IgM, IgG avidity was performed through a fast alert system. Low or intermediate avidity was considered as primary infection in the first-trimester or periconceptional period, and women were offered VCV up to the time of amniocentesis. Infected fetuses were followed-up according to our clinical protocol. Results From February 2021 to August 2023, 2 777 first-trimester pregnant women between 8+0 and 13+6 gestational weeks were screened. Maternal IgG seroprevalence was 70.6%. Among these, 22 (0.8%) had IgM antibodies, four with low or intermediate avidity, suggesting a recent primary infection, and they received oral VCV 2g/6h. Vertical transmission occurred in one with a delayed start of VCV treatment and the family opted for termination of pregnancy. Conclusions Universal first-trimester CMV screening is feasible. A high seroprevalence was observed in our population. Larger studies will confirm whether screening is cost-effective in our setting.

Introduction: This study aimed to compare the spectrum of cardiac anomalies, associated comorbidities, and outcomes in fetuses suspected of congenital heart disease (CHD) at less than 14 weeks' gestation with those in the later gestations.

Methods: We conducted a three-year retrospective study involving 352 fetuses suspected of CHD at our institution. The fetuses were divided into two groups based on the gestational age at which the CHD was initially detected. Initial CHD suspicion was noted within 14 weeks, forming Group I. The remaining fetuses, initially suspected of CHD after 14 weeks, constituted Group II. The type of CHD, ultrasound soft markers (USMs), associated extracardiac structural abnormalities (ECSA), genetic testing results, and pregnancy outcomes were retrieved.

Results: The types of CHD in Group I (n=76) were less varied than those in Group II (n=276). Isolated CHD was significantly more prevalent in Group II (OR=0.170, 95% CI: 0.092-0.316, p<0.001). The frequency of ECSA and USMs was significantly greater in Group I (OR=1.816, 95% CI: 1.180-2.795, p<0.01; OR=4.400, 95% CI: 3.375-5.737, p<0.001, respectively). Chromosomal abnormalities were more prevalent in Group I than in Group II (65.0% vs. 16.5%, p<0.001). There were no significant differences in termination rates between the two groups (OR=1.099, 95% CI: 1.023-1.179, p=0.043).

Conclusion: The spectrum of diagnosed cardiac abnormalities differs between early and mid stages. Non-isolated cardiac abnormalities and chromosomal anomalies are more readily detectable in the early stages of pregnancy before the formal establishment of early cardiac screening programs. Early suspicion of cardiac anomalies may not be the predominant factor driving the termination decision.

Introduction: We describe four cases of open spina bifida initially presumed to be "closed" defects in which serial prenatal ultrasound examinations documented the occurrence of sac rupture and development of Chiari II malformation later in the pregnancy.

Case presentation: In each case, the ultrasound examinations starting from 19-24 weeks' gestation, showed spinal cystic lesions containing neural elements, but no evidence of Chiari II malformation. The lack of hindbrain herniation rendered them ineligible for prenatal surgical repair; but follow-up imaging at 24-32 weeks' gestation, demonstrated the cystic lesions no longer visible or visible but decompressed, with the additional development of de novo hindbrain herniation.

Conclusion: We conclude by recommending serial ultrasound surveillance of presumed "closed" spina bifida as these may be in fact open defects, with confirmatory diagnosis only possible later in pregnancy. This detection is important because it may change counseling since prenatal repair or planned delivery may be warranted.

Introduction: The study investigates whether the disclosure of the chromosomal anomaly causing early pregnancy loss (EPL) favors the grief process and reduces psychological distress.

Methods: Women experiencing EPL were invited to participate in the study at the time they were offered chorionic villi sampling (CVS) and karyotyping before uterine evacuation. They completed two online surveys: one a week after EPL and another a month later, after receiving cytogenetic results. The surveys measured anxiety (HAD), BDI-II cognitive depression factor items, post-traumatic stress disorder (IES-R), and rumination (RRS-10). Participants were divided into groups based on the chromosomal anomaly found at CVS: A1 (autosomal trisomy), A2 (other anomalies), and B (no anomalies).

Results: A significant score decline was observed in the four studied psychological scales assessing anxiety, depression, post-traumatic stress, and rumination, between the first and second survey. The proportion of women with a clinical score also demonstrated a significant decline, except for anxiety. When these changes were assessed after karyotypic group stratification, the group with other chromosomal anomalies (A2) showed the highest drop. This group also demonstrated a significantly higher depression score decline at multivariate regression analysis of the median.

Conclusion: EPL significantly impacts women's mental health, with 19%-51% experiencing manifestations. Disclosing chromosomal anomalies may aid in psychological recovery, particularly in reducing clinical scores for depression.

Novel Insights In presence of cardiotocographic features suspected for hypoxic insult, intrapartum ultrasound in the hands of experienced operators can demonstrate cerebral edema as an indirect sign of fetal hypoxia affecting the fetal CNS and exclude non-hypoxic conditions potentially leading to abnormalities of the fetal heart rate. Introduction Hypoxic-ischemic encephalopathy is a syndrome involving the fetal central nervous system as the result of a perinatal hypoxic-ischemic injury. To date, transfontanellar ultrasound represents the first line exam in neonates with clinical suspicion of HIE as it allows to show features indicating acute hypoxic injury and exclude potential non-hypoxic determinants of HIE, however there is no report concerning the sonographic assessment of the brain during labor. In this clinical case we report the intrapartum sonographic evaluation of the fetal brain as a tool for the differential diagnosis of cardiotocographic abnormalities. Case Presentation A 42-year-old para 2 woman underwent labor induction at 37+3 weeks due to preeclampsia. On admission cardiotocography was normal, as was umbilical artery Doppler. De novo changes of the CTG pattern prior to the onset of labor raised the suspicion of a supervening fetal cerebral insult leading to the decision to expedite delivery by emergency cesarean. During the preparation for delivery, intrapartum ultrasound allowed to demonstrate fetal cerebral edema representing an early sign of superimposed intrapartum acute hypoxic insult in the context of chronic antepartum hypoxia and exclude non-hypoxic conditions of cardiotocographic abnormalities. Conclusion This is the first intrapartum sonographic demonstration of imaging findings consistent with cerebral edema in a fetus at risk for in utero hypoxia, hence suspected for fetal hypoxic ischemic encephalopathy (FHIE). Intrapartum ultrasound can assist clinicians in the differential diagnosis of intrapartum fetal hypoxia as long as it does not delay any interventions required to prevent hypoxic injury.

Background: Rhabdomyoma is the most common cardiac tumor in fetal life. It has frequent association with tuberous sclerosis complex and may lead to heart failure, a potentially fatal condition. The use of transplacental sirolimus, a mammalian target of rapamycin inhibitor, has emerged as a novel treatment in symptomatic fetal rhabdomyomas; however, there are only few cases described.

Case presentation: A 37-year-old woman at 29 weeks and 4 days of gestation had been diagnosed with fetal cardiac tumor, adhered adjacent to the left ventricle, associated with heart dysfunction and polyhydramnios. Therapy with oral sirolimus was started, and, once serum levels were achieved, cardiac tumor reduction was observed, with progressive resolution of cardiac dysfunction. However, maternal hypertriglyceridemia was developed as a side effect, a rarely discussed theme on previous articles, and was successfully controlled with dose reduction. The patient delivered a male infant at 38 weeks and 2 days of pregnancy with no need of any resuscitation maneuver.

Conclusion: Transplacental treatment with sirolimus is a promising therapeutic option to treat symptomatic fetal rhabdomyomas, but more data are demanded to determine its efficacy and safety during pregnancy. A close maternal follow-up concerning triglyceride levels is mandatory.

Introduction: Arterial tortuosity syndrome (ATS) is a rare congenital disorder characterized by elongation and tortuosity of the aorta and mid-sized arteries. Additional features typical of connective tissue disorders are usually present, but the clinical presentation of the syndrome can extensively change. The cardiovascular implications are the major source of morbidity and mortality and can be present even during the neonatal period; therefore, a correct neonatal management is extremely important. However, only few cases of ATS have been suspected or diagnosed prenatally.

Case presentation: In our study, we present a rare case of dichorionic twins both affected by ATS, in which the syndrome was suspected antenatally. Moreover, we performed a review of the literature and summarized the main findings identified at prenatal ultrasounds and postnatal examination, in order to help clinicians with the management of this rare diagnosis.

Conclusion: The most suspicious ultrasound prenatal finding of ATS is the elongation and tortuosity of great arteries. When ATS is suspected prenatally, the newborn should be referred immediately after birth to a high specialized center for proper neonatal care. In case of confirmed ATS, parents should be counseled regarding the recurrence risk in other pregnancies.

Introduction: Fetal extrahepatic portosystemic venous shunt (FEPSVS) is vascular malformations that divert placental and bowel blood from the liver into the systemic circulation. When uncorrected, it can lead to severe pathologic consequences after birth. In this study, we aim to report our method of prenatal diagnosis, the developing insight regarding prenatal counseling, and postnatal treatment.

Methods: Retrospective review of fetuses diagnosed with FEPSVS, classified into Abernethy type I or II based on the absence or existence of intrahepatic portal venous system (IHPVS) flow. Two different counseling periods were compared regarding pregnancy management and postnatal outcome.

Results: In the first period (2000-2010), 5 cases were diagnosed; 4 were type I with an 80% termination rate. In the second period (2011-2021), 6 cases were diagnosed; with only a 16% termination rate in type I cases. Two type II cases were reclassified to type I postnatally and corrected successfully. Of the 6 born alive, 5 had early surgical/endovascular corrections, and 1 experienced spontaneous closure. All the cases resulted in a successful rescue of the IHPVS with good outcomes.

Conclusion: During our developing insights we realized that: (1) the adult classification according to the IHPSVS is not relevant for prenatal prognostic counseling; (2) prenatal diagnosis of FEPSVS is essential in promoting early postnatal investigation and corrective intervention, which might prevent the appearance of postnatal complications.

Introduction: This study evaluated whether comorbidities such as genetic conditions, other congenital anomalies, infection, and other exposures impact the mortality rate and/or neurologic outcomes of patients with congenital ventriculomegaly.

Methods: This was a retrospective cohort study that assessed the mortality rate and developmental delay of 91 patients diagnosed with congenital ventriculomegaly followed at Cincinnati Children's Hospital Medical Center between January 1, 2010, and December 31, 2020.

Results: Of the 91 patients included in the study, 20 (22.0%) had a genetic diagnosis. The mortality rate was higher for patients with a genetic diagnosis compared to those without a genetic diagnosis (p = 0.022), as was the rate of developmental delay (p = 0.026). The presence of comorbidities (confirmed genetic condition, confirmed maternal exposures or infections, and/or additional anomalies) was not associated with an increased risk of mortality nor developmental delay.

Conclusions: Patients diagnosed with congenital ventriculomegaly and a genetic condition have a significantly higher risk of early mortality and developmental delay compared to those without a genetic diagnosis. Therefore, diagnostic genetic testing should be considered after identification of congenital ventriculomegaly to facilitate counseling about prognosis and care management.