Asymptomatic acute massive abruptio placenta at 30 weeks' gestation in a primigravida with no risk factors - clinical presentation and management.

Abruptio placenta can be a catastrophic event with a high association with adverse maternal and fetal outcomes. We present a case of massive abruptio placenta occurring in a young asymptomatic mother at 30 weeks' gestation. Although electronic fetal monitoring and ultrasound allowed a prompt diagnosis of an 8 × 5 cm retroplacental hematoma, the fetus died at the time of emergency cesarean section. The fetus was intubated, but could not be resuscitated. Histologic examination of the placenta documented thinning and stacked hypercapillarized villi, with syncytial buds and foci of fibrinoid necrosis in the presence of hyaline streaks on both the maternal and fetal sides.

Gastrointestinal Stromal Tumors (GISTs) Mimicking Primary Ovarian Tumors or Metastasizing to the Ovaries: A Systematic Literature Review.

Background: Gastrointestinal stromal tumors (GISTs) are a rare neoplasm, sometimes mimicking primary ovarian tumors (OTs) and/or metastasizing to the ovaries (M-OT). We performed a systematic literature review (SLR) of OTs and M-OTs, investigating differences in recurrence-free and overall survival. Methods: Our SLR was performed according to PRISMA guidelines, searching in Pubmed, Scopus, and Web of Science databases from inception until 21 April 2024. Results: Overall, 59 OTs (Group 1) and 21 M-OTs (Group 2) were retrieved. The absence of residual disease after surgery was achieved significantly in a higher percentage of patients with Group 1 GISTs (91.5%) compared with Group 2 GISTs (57.1%). Chemotherapy was more frequently administered to Group 2 patients (33% vs. 0%). Recurrence and deaths for disease were significantly more frequent in Group 2 than Group 1 cases (54.5% vs. 6.8%, and 37.5% vs. 9.8%, respectively). Conclusions: GISTs can rarely mimic primary ovarian cancers or even more rarely metastasize to the ovaries. Group 1 GISTs occurred in younger women, were not associated with elevated tumor markers, and had a better prognosis. In contrast, Group 2 GISTs occurred in older women, may exhibit elevated tumor markers, and presented a worse prognosis. However, no significant statistical difference for survival between the two studied groups was detected. Computed tomography scans can define the size of GISTs, which correlate to stage and prognostic risk classes. The gold standard treatment is complete surgical resection, which was achieved in almost all cases of Group 1 GISTs and in half of Group 2. Histopathology and immunohistochemistry are essential for the final diagnosis and guide chemotherapy treatment.

Prenatal Diagnosis of Umbilical Cord Angiomyxoma: Case Studies and Literature Review of 45 Cases.

We describe two cases of umbilical cord (UC) angiomyxoma diagnosed prenatally by sonography in the second trimester of pregnancy. In both cases, a complex mass was detected at the placental insertion site, characterized by an echoic nodule surrounding the umbilical vessels and distal edematous Wharton's jelly. Follow-up scans showed that the mass grew mainly at the expense of its edematous component, with normal uteroplacental Dopplers throughout the remaining of the pregnancy. However, late-onset fetal growth restriction complicated the progress of pregnancy, requiring delivery by Cesarean section at 37 weeks' gestation in both cases. Neonatal courses were unremarkable. An extensive review of the English literature was also performed, collecting 45 similar cases including ours. Our experience as well as the review of the literature confirms that UC angiomyxoma is an uncommon, sporadic condition that is usually detected incidentally during prenatal sonography and presents as an isolated finding. Nevertheless, it represents a high-risk condition for pregnancy complications including prematurity, fetal growth restriction, and fetal demise.

Fetoscopic Tracheal Occlusion for Isolated Severe Left Diaphragmatic Hernia: A Systematic Review and Meta-Analysis.

Background: We aimed to conduct a systematic review and meta-analysis to evaluate the fetoscopic tracheal occlusion in patients with isolated severe and left-sided diaphragmatic hernia. Methods: Cochrane Library, Embase, and PubMed (Medline) databases were searched from inception to February 2024 with no filters or language restrictions. We included studies evaluating the outcomes of fetoscopic intervention compared to expectant management among patients with severe congenital diaphragmatic hernia exclusively on the left side. A random-effects pairwise meta-analysis was performed using RStudio version 4.3.1. Results: In this study, we included 540 patients from three randomized trials and five cohorts. We found an increased likelihood of neonatal survival associated with fetoscopic tracheal occlusion (Odds Ratio, 5.07; 95% Confidence Intervals, 1.91 to 13.44; p < 0.01) across general and subgroup analyses. Nevertheless, there were higher rates of preterm birth (OR, 5.62; 95% CI, 3.47-9.11; p < 0.01) and preterm premature rupture of membranes (OR, 7.13; 95% CI, 3.76-13.54; p < 0.01) in fetal endoscopic tracheal occlusion group compared to the expectant management. Conclusions: Our systematic review and meta-analysis demonstrated the benefit of fetoscopic tracheal occlusion in improving neonatal and six-month postnatal survival in fetuses with severe left-sided CDH. Further studies are still necessary to evaluate the efficacy of tracheal occlusion for isolated right-sided CDH, as well as the optimal timing to perform the intervention.

Perinatal Outcomes of Intrauterine Interventions for Fetal Sacrococcygeal Teratoma Based on Different Surgical Techniques-A Systematic Review.

Background: This study aims to evaluate the outcomes of fetal sacrococcygeal teratoma (SCT) submitted to prenatal interventions. Methods: We performed a systematic literature review of fetal SCT patients and compared the outcomes between open fetal surgery and percutaneous intervention. In addition, we also compared the results of SCT fetuses who did not undergo any surgical intervention (NI). Results: We identified 16 cases of open fetal surgery (OS), 48 cases of percutaneous fetal intervention (PI), and 93 NI patients. The survival rate was 56.2% in OS, 45.8% in PI (p = 0.568), and 71.0% in NI patients. The gestational age at delivery was earlier in cases where there was no survival compared to cases where the fetuses did survive across all evaluated cohorts (OS: p = 0.033, PI: p < 0.001, NI: p < 0.001). The gestational weeks at delivery in OS and PI fetuses were more similar; however, OS tended to be performed later on in pregnancy, and the affected fetuses had more severe presented findings. In our evaluation, we determined that the presence of fetal hydrops and cardiac failure had no significant impact on survival in SCT cases. In NI patients, polyhydramnios was much higher in fetuses who did not survive compared to their surviving cohorts (p < 0.001). Conclusions: In conclusion, gestational age at delivery can affect the short-term prognosis of fetuses affected with sacrococcygeal teratomas. Regardless of the mode of delivery or the necessity for intervention during the fetal period, monitoring for complications, including polyhydramnios, can prevent premature delivery.

Prenatal diagnosis and in utero treatment of congenital adrenal hyperplasia: An up-to-date comprehensive review.

Congenital adrenal hyperplasia (CAH) is a term that encompasses a wide range of conditions that affect the adrenals. Diagnosis and treatment before birth are important as irreparable birth defects can be avoided, decreasing the need for surgical intervention later in life, especially regarding genitalia anomalies. Although early implementation of dexamethasone in the prenatal treatment of CAH has been controversial, there is recent evidence that this treatment can reduce long-term complications.

Occult invasive cervical cancer, FIGO stage III, with a negative Pap smear test - clinical presentation and brief review of the literature.

Occult cervical cancer is rare and is diagnosed incidentally after a simple hysterectomy. The staging upon histological examination is usually International Federation of Gynecology and Obstetrics (FIGO) stage I, rarely higher with negative preoperative diagnostic tests such as a Pap smear. The clinical case in question is a rare case of cervical carcinoma diagnosed at the time of hysterectomy with a negative exo-endocervical Pap smear, diagnostic tests including transvaginal ultrasound, abdominal magnetic resonance imaging and abdominal computed tomography with a diagnosis of degenerating myoma or suspected sarcoma. In the operating theatre, the surgical radicality was modified and the operation was completed with removal of the parameters, vaginal collar and bilateral pelvic lymphadenectomy. The final histological examination indicated FIGO stage III, for which the patient underwent radiotherapy and chemotherapy.

Parvovirus B19 Infection and Pregnancy: Review of the Current Knowledge.

Parvovirus B19, a member of the Parvoviridae family, is a human pathogenic virus. It can be transmitted by respiratory secretions, hand-to-mouth contact, blood transfusion, or transplacental transmission. Most patients are asymptomatic or present with mild symptoms such as erythema infectiosum, especially in children. In rare cases, moderate-to-severe symptoms may occur, affecting blood cells and other systems, resulting in anemia, thrombocytopenia, and neutropenia. Non-immune pregnant women are at risk for fetal infection by parvovirus B19, with greater complications if transmission occurs in the first or second trimester. Infected fetuses may not show any abnormalities in most cases, but in more severe cases, there may be severe fetal anemia, hydrops, and even pregnancy loss. Maternal diagnosis of intrauterine parvovirus B19 infection includes IgG and IgM antibody testing. For fetal diagnosis, PCR is performed through amniocentesis. In addition to diagnosing the infection, it is important to monitor the peak of systolic velocity of the middle cerebral artery (PVS-MCA) Doppler to assess the presence of fetal anemia. There is no vaccine for parvovirus B19, and fetal management focuses on detecting moderate/severe anemia by fetal PVS-MCA Doppler, which, if diagnosed, should be treated with intrauterine transfusion by cordocentesis. Prevention focuses on reducing exposure in high-risk populations, particularly pregnant women.

Cytomegalovirus and Pregnancy: A Narrative Review.

Cytomegalovirus (CMV) infection is the most common congenital infection worldwide, affecting between 0.7% and 1% of all live births. Approximately 11% of infected newborns are symptomatic at birth, and between 30% and 40% of these are at risk of developing long-term neurological sequelae. Until recently, the lack of an effective treatment did not justify universal testing of pregnant women. In recent years, however, valacyclovir at a dose of 8 g/day has been shown to be effective in preventing vertical transmission, and ganciclovir has been shown to be effective in preventing long-term sequelae in the treatment of symptomatic neonates. The aim of this article is to review congenital CMV infection, from its epidemiology to its treatment, using the most recent studies in the literature, and to help in the decision to modify protocols for universal testing of pregnant women according to the possibilities of each locality.

Impact of overweight and obesity in the fetal cardiac function parameters in the second and third trimesters of pregnancy.

OBJECTIVE: To assess the impact of overweight and obesity in the second and third trimesters of pregnancy on fetal cardiac function parameters. METHODS: We performed a prospective cohort study of 374 singleton pregnant women between 20w0d and 36w6d divided into three groups: 154 controls (body mass index - BMI < 25 kg/m2), 140 overweight (BMI 25-30 kg/m2) and 80 obese (BMI ≥ 30 kg/m2). Fetal left ventricular (LV) modified myocardial performance index (Mod-MPI) was calculated according to the following formula: (isovolumetric contraction time + isovolumetric relaxation time)/ejection time. Spectral tissue Doppler was used to determine LV and right ventricular (RV) myocardial performance index (MPI'), peak myocardial velocity during systole (S'), early diastole (E'), and late diastole (A'). RESULTS: We found significant differences between the groups in maternal age (p < 0.001), maternal weight (p < 0.001), BMI (p < 0.001), number of pregnancies (p < 0.001), parity (p < 0.001), gestational age (p = 0.013), and estimated fetal weight (p = 0.003). Overweight pregnant women had higher LV Mod-MPI (0.046 versus 0.044 seconds, p = 0.009) and LV MPI' (0.50 versus 0.47 seconds, p < 0.001) than the control group. Obese pregnant women had higher RV E' than control (6.82 versus 6.33 cm/sec, p = 0.008) and overweight (6.82 versus 6.46 cm/sec, p = 0.047) groups. There were no differences in 5-min APGAR score < 7, neonatal intensive care unit admission, hypoglycemia and hyperglobulinemia between the groups. CONCLUSIONS: We observed fetal myocardial dysfunction in overweight and obese pregnant women with higher LV Mod-MPI, LV MPI' and RV E' compared to fetuses from normal weight pregnant women.

Umbilical Cord Diseases Affecting Obstetric and Perinatal Outcomes.

BACKGROUND: (1) The aim of this article is to describe the physiopathology underlying umbilical cord diseases and their relationship with obstetric and perinatal outcomes. (2) Methods: Multicenter case series of umbilical cord diseases with illustrations from contributing institutions are presented. (3) Results: Clinical presentations of prenatal ultrasound findings, clinical prenatal features and postnatal outcomes are described. (4) Conclusions: Analysis of our series presents and discusses how umbilical cord diseases are associated with a wide variety of obstetric complications leading to a higher risk of poor perinatal outcomes in pregnancies. Knowing the physiopathology, prenatal clinical presentations and outcomes related to umbilical diseases allow for better prenatal counseling and management to potentially avoid severe obstetric and perinatal complications.

3D ultrasound angioscan with MV-Flow™: Enhancing fetal brain low-flow microvascular neuroimaging.

MVFlow™ is a 3D algorithm that enhances the study of the microvasculature, useful in the study of tumoral lesions or in assessing the slow-flow of the placenta vessels and the developing fetal brain. It may improve the study of the corpus callosum in normal fetuses and be applied in the characterization of brain pathologies.

Cleft Lip and Cleft Palate: Time to Include Orofacial Ultrasound Markers Into the First-Trimester Anatomy Scan?

Orofacial clefts are one of the most common congenital malformations. The prenatal diagnosis is often made in the second trimester of pregnancy as result of ultrasound examination of the midface on coronal and axial planes. However, the diagnosis in the first trimester is elusive due to the small size of the facial structures and technical limitations present at this early gestational age. In this Commentary, we suggest the routine systematic ultrasound identification of easy-to-obtain landmarks to improve the detection of cleft lip and cleft palate in the first trimester. These include, but are not limited to, visualization of the primary palate using the coronal plane of the face looking for disruption at the base of the retronasal triangle, and visualization of the palate using the sagittal plane looking for the maxillary gap and loss of the superimposed line. Early prenatal detection of orofacial clefts would allow a more detailed search for associated chromosomal anomalies or genetic syndromes.

Simulator, machine learning, and artificial intelligence: Time has come to assist prenatal ultrasound diagnosis.

In this Commentary authors investigated and extended the role of simulator in assisting obstetric sonographers in training program. The interconnection of different digitalized technologies such as digital data, artificial neuronal and convolutional networks, machine and deep learning, telemedicine, and output are discussed and contribute to the generation of artificial intelligence.

Clinical Presentations and Diagnostic Imaging of VACTERL Association.

Background: VACTERL association consists of Vertebral, Anorectal, Cardiac, Tracheo-Esophageal, Renal, and Limb defects. The diagnosis depends on the presence of at least three of these structural abnormalities. Methods: The clinical presentation and diagnostic prenatal imaging of VACTERL association are comprehensively reviewed. Results: The most common feature is a vertebral anomaly, found in 60-80% of cases. Tracheo-esophageal fistula is seen in 50-80% of cases and renal malformations in 30% of patients. Limb defects including thumb aplasia/hypoplasia, polydactyly, and radial agenesis/hypoplasia are present in 40-50% of cases. Anorectal defects, like imperforate anus/anal atresia, are challenging to detect prenatally. Conclusion: The diagnosis of VACTERL association mostly relies on imaging techniques such as ultrasound, computed tomography, and magnetic resonance. Differential diagnosis should exclude similar diseases such as CHARGE and Townes-Brocks syndromes and Fanconi anemia. New insights into genetic etiology have led to recommendations of chromosomal breakage investigation for optimal diagnosis and counseling.

Ectopia cordis: prenatal diagnosis, perinatal outcomes, and postnatal follow-up of an international multicenter cohort case series.

OBJECTIVE: This study aimed to analyze prenatal diagnosis, perinatal outcomes, and postnatal follow-up in fetuses with ectopia cordis (EC). METHODS: This retrospective analysis accessed 31 patients with EC who were either diagnosed or referred to a tertiary Fetal Medicine centers for EC diagnosis in Brazil, Germany, Italy, and Poland. We analyzed prenatal diagnosis, perinatal outcomes, and follow-up in these patients. RESULTS: Our study included a cohort of 31 fetuses with EC, 4 and 27 of whom had partial and complete protrusion of the heart through a ventral defect in the thoracoabdominal wall, respectively. EC was diagnosed by fetal echocardiography at a mean gestational age of 20.3 ± 8.6 weeks (range, 8-35 weeks). Of the four cases, in which the karyotype was performed, all of them had a normal result (1 - 46,XX and 3 - 46,XY). Five patients showed conotruncal abnormalities and six ventricular septal defects. Termination of pregnancy (TOP) was performed in 15 cases (48%) and seven pregnant women had spontaneous fetal demise (22.5%). Of the seven fetuses that were born alive, four of them died, and three infants underwent surgery. Among these three infants, all of them survived, one was 5 months, 13 years old and 29 years old at the time of study completion. CONCLUSIONS: Ectopia cordis is associated with high mortality rates and intracardiac/extra-cardiac defects. Ventricular septal defects and conotruncal anomalies were the more common intracardiac defects associated with EC. However, in this cohort of fetuses with EC the incidence of PC was lower than reported in the literature.

Ultrasound and fetal magnetic resonance imaging: Clinical performance in the prenatal diagnosis of orofacial clefts and mandibular abnormalities.

Cleft lip, with or without cleft palate, is the most common congenital craniofacial anomaly and the second most common birth defect worldwide. Micrognathia is a rare facial malformation characterized by small, underdeveloped mandible and frequently associated with retrognathia. Second- and third-trimester prenatal ultrasound is the standard modality for screening and identification of fetal orofacial abnormalities, with a detection rate in the low-risk population ranging from 0% to 73% for all types of cleft. The prenatal ultrasonography detection can also be performed during the first trimester of pregnancy. Given the potential limitations of obstetric ultrasound for examining the fetal face, such as suboptimal fetal position, shadowing from the surrounding bones, reduce amniotic fluid around the face, interposition of fetal limbs, umbilical cord and placenta, and maternal habitus/abdominal scars, the use of adjunct imaging modalities can enhance prenatal diagnosis of craniofacial anomalies in at-risk pregnancies. Fetal magnetic resonance imaging (MRI) is a potentially useful second-line investigation for the prenatal diagnosis of orofacial malformations with a pooled sensitivity of 97%. In this review, we discuss the role of ultrasound and fetal MRI in the prenatal assessment of abnormalities of the upper lip, palate, and mandible.

Basic sonographic examination of the fetal brain at 11-13 weeks' gestation: Rationale for a simple and reliable four-step technique.

The widespread incorporation of first-trimester scanning between 11 and 13 weeks' gestation has shifted from the screening of chromosomal abnormalities, mainly by measuring nuchal translucency thickness and visualization of the nasal bone, to a more detailed study of the fetal anatomy leading to early detection of several structural congenital anomalies. This goal can be improved by the routine and focused sonographic assessment of specific anatomic planes and the identification of distinctive landmarks that can help disclosing a particular, non-evident condition. In this article we present the basis for a basic, early examination of the fetal brain during screening using a four-step technique, which can be readily incorporated during the first-trimester scan. The technique includes the focused visualization of the cranial contour, choroid plexuses of the lateral ventricles and midline, aqueduct of Sylvius, brainstem, fourth ventricle, and the choroid plexus of the fourth ventricle. The rationale for this approach is presented and discussed.