Search Results (36)

Background: Bilastine is a long-acting, nonsedating antihistamine used to treat allergic conditions. Human pregnancy experience with bilastine remains limited. Objectives: The primary aim was to evaluate the risk of major anomalies following first-trimester bilastine exposure. Secondary endpoints included additional pregnancy outcomes. Methods: This observational, prospective cohort study included women counseled by the Israeli Teratology Information Service regarding first-trimester bilastine exposure between July 2019 and June 2023. Participants were contacted by telephone for follow-up using a structured questionnaire. Pregnancy outcomes were compared with fexofenadine-exposed pregnancies. The data analysis, comparison, and presentation followed the recommendations of the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) guide. Results: Follow-up was obtained for 36 pregnancies with at least first-trimester bilastine exposure. The median daily bilastine dose was 20 mg, with treatment discontinued at a median gestational age of 5 + 6 weeks. First-trimester bilastine exposure was not associated with an increased risk of major anomalies [bilastine: 2/33, 6.1% vs. fexofenadine: 2/27, 7.4%; crude OR 0.81, 95% CI 0.11–6.14]. No pattern of malformations was observed. Rates of live-birth, miscarriage, and pregnancy termination were 91.7%, 5.6%, and 2.8% in the bilastine group, and 72.2%, 19.4%, and 8.3% in the fexofenadine group, respectively. Conclusions: This cohort study, although small, provides preliminary reassurance for counseling regarding inadvertent early pregnancy exposure to bilastine. Larger studies are needed to validate these findings. Full article

Background: The standard protocol for early first-trimester termination of pregnancy (TOP) involves administration of mifepristone followed by misoprostol after a 48-h interval. While concurrent administration may improve convenience and access, evidence regarding its effectiveness remains limited. This study aims to compare the efficacy, safety, and acceptability of concurrent oral administration of mifepristone and misoprostol with the 48-h interval regimen for early TOP. Methods: In this randomized controlled trial (ClinicalTrials.gov: NCT03440866), 250 patients with intrauterine pregnancies up to 49 days’ gestation were randomized to receive either concurrent treatment (600 mg mifepristone and 400 mcg misoprostol) or the same medications administered 48 h apart. The primary outcome was complete abortion without additional intervention. Secondary outcomes included adverse events, pain, and patient satisfaction. Follow-up occurred approximately two weeks post-treatment. Data were available for 220 participants. Results: The concurrent group had a significantly lower success rate compared to the control group (68.8% vs. 84.3%, p = 0.007). Continuing pregnancy was more frequent with concurrent administration (13.4% vs. 2.8%, p = 0.004). No significant differences were observed in hemoglobin change, adverse events, or pain scores. Patient satisfaction was higher in the control group (81.1% vs. 63.6%, p = 0.04), though preferences for future abortion methods did not differ between groups. Conclusions: Concurrent administration of mifepristone and misoprostol is less effective and less satisfactory than the standard 48-h regimen, although safety and pain profiles are comparable. It should not replace the interval protocol, and patients choosing concurrent treatment should be counseled about its lower efficacy and higher likelihood of requiring additional intervention. Full article

Background and Clinical Significance: The occurrence of acute myeloid leukemia (AML) in pregnancy represents a diagnostic and management challenge in the attempt to balance and achieve both maternal and fetal wellbeing. Pregnancy-specific manifestations mimic the initial symptoms of leukemia and may lead to a delay in diagnosis, especially during the first trimester of pregnancy. Decision-making strategies involve the patient and couples counseling with a multidisciplinary team of hematologists, obstetricians, neonatologists and psychologists. Maternal outcome depends on the disease subtype, progression and response to medication. Fetal outcome depends on other potential pregnancy complications, possible teratogenicity, gestational age at delivery and sometimes iatrogenic prematurity. Case Presentation: We present the case of a 38-year-old multiparous patient with a late first trimester, with an AML diagnosis presenting with hyperemesis gravidarum-like symptoms. Genetic testing revealed the presence of an Fms-like tyrosine kinase 3-internal tandem duplication mutation (FLT3-ITD). Following that, a repeatedly refused termination of pregnancy and rapid disease progression with azacitidine therapy was initiated. Elective cesarean delivery was performed at 34 weeks of gestation due to progressive leukocytosis, which persisted postpartum, requiring the use of first-, second-, and eventually third-line chemotherapy. Fetal outcome was favorable at 3 months postpartum. Conclusions: Cases of AML in pregnancy require a tailored approach according to guidelines, but also patient/couple preferences, while the choice of chemotherapy is limited considering its potential teratogenic effects. This is a case with a misleading first presentation and a challenging therapeutic choice due to its genetic subtype and maternal treatment postponement. Full article

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare, often fatal congenital disorder characterized by severe neonatal respiratory distress and associated with complex multisystem malformations. In approximately 90% of cases, the condition is linked to deletions or mutations affecting the FOXF1 gene or its upstream enhancer region on chromosome 16q24.1. This review analyzes reported prenatal cases with 16q24.1 deletion involving FOXF1, aiming to identify recurrent sonographic features and elucidate the underlying genomic and epigenetic mechanisms. We reviewed prenatal cases reported in the literature involving deletions of the 16q24.1 region, including the FOXF1 gene. Here, we expand the case series by reporting a fetus with increased nuchal translucency measuring 8 mm and a de novo 16q24.1 deletion. We identified nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward. Prenatal diagnosis of ACDMPV based solely on ultrasound findings is challenging. In most reported cases, the pregnancy was carried to term, with the diagnosis being confirmed by post-mortem histopathological examination. In the only case in which the pregnancy was terminated at 14 weeks’ gestation, histological examination of the fetal lungs, despite them being in the early stages of development, revealed misaligned pulmonary veins in close proximity to the pulmonary arteries and bronchioles. Evidence highlights the significance of non-coding regulatory regions in the regulation of FOXF1 expression. Differential methylation patterns, and possible contributions of parental imprinting, highlight the complexity of FOXF1 regulation. Early detection through array comparative genomic hybridization (array CGH) or next-generation sequencing to identify point mutations in the FOXF1 gene, combined with increased awareness of ultrasound markers suggestive of the condition, could improve the accuracy of prenatal diagnosis and genetic counseling. Further research into the epigenetic regulation of FOXF1 is crucial for refining recurrence risk estimates and improving genetic counseling practices. Full article

Background/Objectives: Over the years, the potential of the first-trimester (FT) ultrasound in the detection of fetal structural defects has increased. The main objectives of the first-trimester fetal screening evaluation are the detection of major structural anomalies and the diagnosis of additional sonographic markers for chromosomal disorders. When a fetal anomaly is diagnosed, patients have the right to be informed about the risks, necessary interventions, or alternatives. Depending on the severity of the anomalies and the pregnancy period, the legality of the pregnancy termination was evaluated. The aim of this study was to assess the impact of the first-trimester morphological screening of the fetus using an ultrasound protocol according to the latest international protocols (the ISUOG protocol). Methods: Between 1 January 2024 and 31 December 2024, 854 pregnancies with gestational ages between 11 weeks and 13 weeks + 6 days were morphologically evaluated during the nuchal scan in the Obstetrics and Gynecology Department of the Emergency County Hospital from Craiova. Both transabdominal and transvaginal ultrasound in 2D and in a color Doppler mode were used in the scanning technique. The ultrasound findings were correlated with the genetic testing results and pregnancy outcome. The medical law implications were related to the cases where the ultrasound was performed at about 13 weeks of gestation, and the screening genetic results showed an increased pregnancy risk, which arose during the FT. In these cases, we performed amniocentesis at about 16–17 weeks of gestation, and especially, the Non-Invasive Prenatal Testing (NIPT)-positive cases were confirmed by karyotyping. Still, at this gestational age of diagnosis, the Romanian law would not allow abortions. Results: By using this extended FT ultrasound protocol, we detected 58 cases with fetal structural anomalies. Eighteen cases were also associated with genetic syndromes after performing chorionic villous sampling (CVS). Three cases detected with minor structural anomalies (two cases with club foot and one case with a cleft upper lip) were lost to follow-up. Conclusions: Fetal morphological ultrasound evaluation is feasible in the late first trimester. By using an extended ultrasound protocol, we can detect most of the fetal structural anomalies and contribute to better medical counseling and improve pregnancy outcomes. Full article

Objectives: Monitoring pregnancies is essential for community well-being. However, not all pregnancies progress normally, and some require termination. The objective was to emphasize the importance of trust in the doctor–patient relationship during this challenging time for expectant parents. Case report: During fetal morphology examination, parents were warned of a poor fetal prognosis, prompting a request for pregnancy termination. They consulted another specialist, who reassured them that the fetus appeared normal, though slightly hypotrophic. The child was born at 35 weeks gestational age and admitted to the neonatal ICU level III in an impaired general condition and polymalformative syndrome (triangular facies, epicanthic eyes, hypertelorism, retrognathia, low base of the nose, triangular mouth, lips angled downward, and small, dysplastic, and low-set earlobes). The child had syndactyly of fingers and toes. Cytogenetic analysis revealed a karyotype of 69, XX, +mar. The indirect DNA analysis revealed that the third gonosome is a Y chromosome. Death occurred 30 days post delivery, following severe dyspnea and bronchial obstruction, with desaturation and bradycardia. Conclusions: Triploid pregnancies are usually lost in the first trimester; however, very rarely, live births can occur. Hope for a positive outcome encouraged parents to continue the pregnancy, leading to a profoundly sorrowful experience and added strain on the healthcare system. Complex decisions put pressure on the patient–doctor relationship, as misplaced hope can impact both parties. Expectant parents facing difficult diagnoses require attentive support during this challenging time, grounded on a foundation of trust between doctor and patient. Full article

Background: This case report describes the rare coexistence of cervical cancer with pregnancy, a challenging scenario requiring careful balance between maternal treatment and fetal safety. In Poland, cervical cancer remains a significant health issue, highlighting the need for effective multidisciplinary strategies. Methods: This case report was prepared based on CARE guidelines for medical case reporting. The patient was observed by a clinical psycho-oncologist–midwife and a psychologist (also specializing in clinical psycho-oncology) from the start of oncological treatment until delivery and early postpartum. During pregnancy, the pregnant woman was asked three times (at the 23rd, 32nd, and 38th weeks of pregnancy) to complete questionnaires: a self-report questionnaire collecting sociodemographic data, clinical information, and perception of causes and effects of fatigue, the Chalder Fatigue Questionnaire (CHFQ-PL), the Fatigue Management Barriers Questionnaire (FMBQ), the Multidimensional Social Support Scale (MSPSS), and the Walsh Family Resilience Questionnaire (WFRQ-PL). Results: The patient, a 37-year-old woman in her second pregnancy, presented with cervical cancer diagnosed in the first trimester. Major concerns included fatigue, emotional distress, and treatment-related uncertainties. Throughout the pregnancy, she underwent four chemotherapy cycles and participated in psycho-oncological assessments to monitor fatigue, which increased as treatment progressed and affected daily functioning and emotional well-being. To enable the early continuation of oncology treatment, the pregnancy was electively terminated by cesarean section at 37+5 weeks, resulting in the good condition of the infant and a stable maternal postpartum condition, though anemia and emotional concerns required further management. Conclusions: As research on fatigue in pregnant oncology patients is limited, this case underscores the value of structured psycho-oncological support to enhance care and outcomes for both mother and child. Full article

Objective. Our objective was to assess the proportion of false-positive CHD cases at the first-trimester evaluation of the fetal heart, performed by experienced operators. Methods. This multicenter retrospective study included of pregnant women with suspicion of CHDs during first-trimester screening for aneuploidies. In all cases, the fetal heart assessments were performed by obstetricians with extensive experience in first-trimester scanning, following an extended protocol proposed by SIEOG national guidelines, which included an axial view of the fetal abdomen and chest to assess visceral situs and evaluation of the four-chamber view (4CV) and three-vessel trachea view (3VTV) with color Doppler. In all suspected cases, fetal echocardiography was offered within 16 and/or at 19–22 weeks’ gestation. Results. From a population of 4300 fetuses, 46 CHDs were suspected. Twenty-four cases were excluded from this analysis because the parents opted for early termination of the pregnancies due to associated structural and/or genetic anomalies. For the remaining 22, echocardiography was performed by 16 weeks in 14 cases (64%) and after 16 weeks in 8 cases. In 19 cases (86.4%), a fetal cardiologist confirmed the presence of a CHD. In three cases (13%), the cardiac anatomy was found to be normal at the fetal echocardiography and postnatally. Conclusions. This study shows that the proportion of false-positive cases at the first-trimester ultrasound examination of the fetal heart, performed by experienced operators, may carry a higher risk of false-positive diagnosis than expected. Therefore, this issue must be discussed in instances where a CHD is suspected at the first-trimester screening. Full article

Limited information is available concerning the termination of pregnancy in non-human primates. Thus, a comprehensive review of this topic will be beneficial for veterinary staff in laboratories, zoos, and wildlife rehabilitation centers. The most relevant studies concerning the termination of viable and non-viable pregnancy in non-human primates were analyzed, and dosages, administration routes, adverse effects, and the efficacy of the drugs used are reported. The literature revealed that termination of pregnancy is most commonly performed in marmosets and macaques. The combination of mifepristone and misoprostol was reported to be effective and fast-acting in terminating first-trimester pregnancy in macaques, while cloprostenol was identified as the best agent for use in marmosets. This review also provides insights about the limitations of previously described methods of pregnancy termination and discusses potential alternatives and areas for future investigation. Full article

Fetal exposures to many drugs of abuse, e.g., opioids and alcohol (EtOH), are associated with adverse neurodevelopmental problems in early childhood, including abnormalities in activity of the serotonin (5HT) transporter (SERT), which transports 5HT across the placenta. Little is known about the effects of these drugs on SERT expression. Pregnant women who used EtOH or opioids were compared to gestational age-matched controls using a structured questionnaire to determine prenatal substance exposure. Following elective pregnancy termination, placental membranous vesicles and exosomes were prepared from first and second trimester human placentas. Changes in EtOH- or opioid-exposed placental SERT expression and modifications were assessed by quantitative western blot. Novel SERT isoforms were sequenced and analyzed. Opioid-exposed but not EtOH-exposed maternal placentas showed SERT cleavage and formation of new SERT fragments (isoforms). Alcohol-exposed cases showed reduced SERT levels. Antibodies to the N-terminal SERT region did not recognize either of the two cleavage products, while antibodies to the central and C-terminal regions recognized both bands. The secondary band seen in the opioid group may represent a hypophosphorylated SERT fragment. These changes in SERT modifications and expression may result in altered fetal brain serotonergic neurotransmission, which could have neurodevelopmental implications. Full article

Primary cytomegalovirus infection during pregnancy has a high risk of vertical transmission, with severe fetal sequelae mainly associated with first-trimester infections. We conducted a retrospective analysis of 200 IU/kg cytomegalovirus-specific hyperimmune globulin (HIG), used in first-trimester maternal primary infections for congenital infection prevention. The primary outcome was vertical transmission, defined as neonatal viruria or positive amniocentesis if pregnancy was discontinued. HIG, initially administered monthly and since 2019 biweekly, was discontinued in negative amniocentesis cases. Women declining amniocentesis and positive amniocentesis cases with normal sonography were offered monthly HIG until delivery as a treatment strategy. The total transmission rate was 29.9% (32/107; 10 pregnancy terminations with positive amniocentesis, 18 completed pregnancies with positive amniocentesis and 4 declining amniocentesis). Maternal viremia was the only factor associated with fetal transmission (OR 4.62, 95% CI 1.55–13.74). The transmission rate was not significantly different whether HIG was started during the first or second trimester (28.2% vs. 33.3%; p = 0.58), or between monthly and biweekly subgroups (25.7% vs. 37.8%, p = 0.193). Pre-treatment maternal viremia could inform decisions as a predictor of congenital infection. Full article

This is a single tertiary population-based study conducted at a center in southwest Romania. We retrospectively compared data obtained in two periods: January 2008–December 2013 and January 2018–December 2023. The global incidence of the transposition of great arteries in terminated cases, in addition to those resulting in live-born pregnancies, remained almost constant. The live-birth incidence decreased. The median gestational age at diagnosis decreased from 29.3 gestational weeks (mean 25.4) to 13.4 weeks (mean 17.2). The second trimester and the overall detection rate in the prenatal period did not significantly change, but the increase was statistically significant in the first trimester. The proportion of terminated pregnancies in fetuses diagnosed with the transposition of great arteries significantly increased (14.28% to 75%, p = 0.019). Full article

The amnion rupture sequence is a rare condition occurring early in pregnancy, resulting in complex fetal anomalies by disrupting normal embryonic development. The prevalence of amnion rupture sequence is reported to be 1.16 in 10,000 live births. This article explores the uncommon case of early amnion rupture leading to fetal encephalocele, suspected in the first trimester. Despite the variable and intricate nature of anomalies associated with this condition, cranio-facial and abdominal defects are frequently observed. Genetic testing was conducted, with normal results supporting our theory of amnion rupture. The patient decided to terminate the pregnancy, and the anatomopathological results confirmed the findings. This article discusses the diagnostic challenges, emphasizing the importance of timely identification through advanced imaging techniques. Full article

Abdominal wall defects encompass three primary classifications: gastroschisis, omphalocele and anomalies resembling body stalk. Potential causative factors include early amnion rupture, amniotic bands, vascular disruptions or abnormal folding of the embryo. The prevalence of these defects stands at 1 in 14,000 live births. Body stalk anomaly is characterized by a substantial abdominal defect coupled with spine and limb anomalies, along with a very short or absent umbilical cord. We present a case of a rare abdominal defect known as body stalk anomaly, the most severe form of this spectrum of diseases. The diagnosis of this anomaly was established during the first trimester of pregnancy. Subsequently, the patient opted for pregnancy termination and chose not to undergo genetic testing. The anatomo-pathological results confirmed the findings. Body stalk anomaly is not compatible with life; therefore, early identification and understanding the clinical implications of this rare anomaly for informed decision-making in prenatal care are very important. Full article

This retrospective case-controlled study analysed the outcome of pregnancies with first-trimester enlarged nuchal translucency (NT) and a normal karyotype. A total of 479 pregnancies with first-trimester NT measurements were grouped as control (370 cases; normal NT) and study (109 cases; enlarged NT, ≥95th percentile; with normal karyotype). Adverse outcomes included miscarriage, intrauterine foetal death, termination of pregnancy, neonatal death, and structural/chromosomal/genetic abnormalities. The study was conducted between June 2016 and June 2022 at the Foetal Maternal Unit of Kanad Hospital, UAE. Overall, the live birth rate in the study group was significantly lower (74.3%) compared to the control (94.1%, p < 0.001). All pregnancy outcomes of this group significantly differed compared to the control. The observed miscarriage level was 9.2% (vs. 1.1%, p < 0.001), intrauterine foetal death was 2.8% (vs. 0%, p = 0.001), spontaneous preterm birthwas 11% (vs. 4.9%, p = 0.020), and termination of pregnancy was 3.7% (vs. 0%, p < 0.001). The presence of foetal abnormalities was also significantly higher in the enlarged NT group at 21% (vs. 3.3%, p < 0.001). Results indicate that enlarged NT is associated with adverse pregnancy outcomes even when the karyotype is normal. Based on these results, a comprehensive review of the guidelines for counselling and managing pregnancies with enlarged NT and a normal karyotype is recommended. Full article