Case Reports in Perinatal Medicine最新文献

Objectives: This case aims to highlight the challenges healthcare providers and parents are faced with upon the emergence of fetal anomalies in the third trimester, emphasizing the pivotal role of trio exome sequencing in informed decision-making.

Case presentation: A 39 year old women, Gravida II para I, was referred at 30 + 6 weeks of gestation for suspected fetal growth restriction, oligohydramnios, and abnormal placental features. Initial scans had revealed fetal head measurements and cerebellum in the lower normal range. Following further investigation via amniocentesis, fetal MRI, and trio exome sequencing, a compound heterozygous QARS1 mutation was identified. This gene is crucial for brain development. The MRI at 34 weeks confirmed microcephaly and abnormal gyration patterns corresponding to a development stage of 29 weeks. Genetic counseling was provided to the parents, who ultimately decided on late termination of the pregnancy at 34 + 5 weeks. The process was managed with medical support, ensuring psychosomatic and pastoral care for the parents.

Conclusions: This case highlights the necessity for detailed and continuous prenatal assessments even amid initially mild fetal anomalies. The identification of the QARS1 mutation late in pregnancy underscores the potential impacts of rare genetic disorders on fetal development and necessitates comprehensive genetic counseling and ethical decision-making for parents and healthcare providers. This case emphasizes the critical role of advanced genetic testing in identifying conditions that significantly influence perinatal management and parental choices.

Objectives: Pregnant individuals face increased COVID-19 symptom severity, yet vaccination rates remain low. The study aimed to identify strategies for improving vaccine adherence by examining pregnant individuals' attitudes toward the COVID-19 vaccine and their news consumption habits.

Case presentation: A total of 58 pregnant and postpartum individuals were surveyed in the Obstetrics & Gynecology clinic at an urban academic medical center in Newark, NJ from June to December 2023. The 88-item survey assessed sociodemographic characteristics, vaccination status, pandemic-related risk perception, resource accessibility, and news sources. Sixty-six percent of participants reported receiving the COVID-19 vaccine. Vaccinated individuals were more likely to agree with pro-vaccine statements. Many respondents, regardless of vaccination status, selected "neither agree nor disagree" for anti-vaccine claims including those related to infertility or miscarriage. Participants who preferred traditional news sources (e.g. television broadcasts) were more likely to support pro-vaccine statements, while social media users expressed greater uncertainty.

Conclusions: Concerns about the safety and efficacy of the COVID-19 vaccine were key in hesitancy among pregnant individuals, with social media contributing to this hesitancy. Our study highlights the need for holistic and effective communication from healthcare providers, evidence-based information across media platforms, and increased vaccine accessibility to improve vaccine adherence.

Objectives: To evaluate the safety and effectiveness of ultrasound-guided instrumental removal of retained placenta.

Case presentation: We presented a retrospective single-center cohort study include 54 patients diagnosed with retained placenta after delivery. The characteristics of the patients with retained placenta, who received ultrasound-guided instrumental removal, were evaluated. We also compared the characteristics between the patients with retained placenta with and without suspected placenta accrete.

Conclusion: Curettage should be performed in retained placenta without suspected placenta accrete. In retained placenta with suspected placenta accrete, we could also perform ultrasound-guided instrumental removal therapy if the retained placenta was not in the lower uterine segment or in previous scars.

Objectives: To evaluate fetal neurobehavior using the Kurjak Antenatal Neurodevelopmental Test (KANET) via 4D ultrasound in a fetus diagnosed with syndromic Dandy-Walker Malformation (DWM), and to correlate these findings with postnatal outcomes.

Case presentation: A 35-year-old woman was referred at 25 weeks' gestation for evaluation of multiple fetal anomalies. Ultrasound revealed hallmark DWM features - cerebellar vermis hypoplasia, enlarged posterior fossa, hydrocephalus - as well as extracranial anomalies including craniofacial dysmorphism, bilateral clubhands and clubfeet, and suspected hypoplastic left heart syndrome. A KANET assessment at 25+3 weeks yielded a severely abnormal score of 3. At 26 weeks, a male infant was delivered and survived 2 h postnatally. All anomalies were confirmed postnatally.

Conclusions: KANET, even when performed slightly earlier than standard timing, provided critical insights into the fetus's neurobehavioral function and correlated strongly with the fatal outcome. This case supports the value of KANET as a non-invasive tool for assessing neurological integrity in complex fetal conditions where third-trimester evaluation may not be possible.

Objectives: Intravenous immunoglobulin (IVIG) in pregnancy has been used to treat hematologic conditions, but there is limited literature on its use in acute Parvovirus B19 infection. The purpose of this report is to highlight IVIG treatment recommendations based on low reticulocyte counts and high middle cerebral artery peak systolic velocity (MCA-PSV) values to prevent fetal hydrops, as well as identify which patients would benefit from high-dose IVIG administration in the setting of acute Parvovirus B19 infection in the second trimester.

Case presentation: We present the treatment of acute Parvovirus B19 infection with IVIG in two affected pregnancies, as an alternative to percutaneous umbilical blood sampling (PUBS) and intrauterine transfusion (IUT).

Conclusions: IVIG may be useful for Parvovirus B19 treatment in patients with erythropoietic suppression, in patients who decline PUBS/IUT with elevated MCA-PSV, and in patients who have difficult access to the placental cord insertion site, unsuccessful attempt at PUBS, or relative contraindications (i.e. significant abdominal surgery, high BMI).

Objectives: This report describes the case of an infant with congenital thrombotic thrombocytopenic purpura.

Case presentation: An infant who presented after birth with severe neonatal indirect hyperbilirubinemia, thrombocytopenia and hemolytic anemia. His initial neonatal course was complicated with hypoxemic respiratory failure due to persistent pulmonary hypertension of the newborn, acute kidney injury and disseminated intravascular coagulopathy. After surviving the acute neonatal presentation, he presented with stress-induced recurrent hemolytic anemia and thrombocytopenia. The diagnosis of congenital TTP was suspected and confirmed by low ADAMTS13 activity, the absence of ADAMTS13 inhibitors, and the identification of a homozygous variant in the ADAMTS13 gene.

Conclusions: Although rare, congenital TTP needs to be considered by neonatologists when dealing with a neonate with hemolytic jaundice, anemia, and thrombocytopenia. PPHN can complicate the initial presentation of congenital TTP.

Objectives: Choriocarcinoma, an aggressive form of gestational trophoblastic neoplasia, can be divided into gestational and non-gestational types, each with distinct biological activity and prognosis. We report a case of gestational choriocarcinoma.

Case presentation: A 38-year-old woman (2 Gravida, 2 Para) presented at our clinic four weeks after her second cesarean section with persistent vaginal bleeding and decreasing hemoglobin to 6.8 mg/L. In the ultrasound examination, retained placental tissue was suspected. Since conservative management with misoprostol was not effective, a curettage was performed. The histopathological result revealed a gestational choriocarcinoma invading the myometrium (CK18 positive, HPL positive, beta-hCG positive, p63 negative, PLAP positive, Ki67 (MIB-1)>80 %). Beta-hCG was 50,607 IU/L at the time of diagnosis. The computed tomography (CT) scan revealed bilateral pulmonary metastases. There were no metastases to the liver, lymph nodes, skeleton or brain. In accordance with FIGO recommendations [stage III, Score 8 (high risk) choriocarcinoma] a multi-drug chemotherapy after EMACO-regimen was started 9.5 weeks postpartum during 14 days for seven cycles. The patient has been in tumor remission since then.

Conclusions: Choriocarcinoma is a differential diagnosis of vaginal peripartum bleeding and might likely be underdiagnosed. Risk factors like a prior hydatidiform mole or abortion, Asian, Indian American, African American or Hispanic ethnicity, advanced maternal age (>40 years), blood group A, or high/increasing beta-hCG postpartum should be taken into consideration.

Objectives: Intra-amniotic colonisation or infection caused by Candida albicans is rare. Given the shortage of reported cases, evidence on antifungal strategies and the choice of type and timing of delivery is limited.

Case presentation: We report a case of intra-amniotic colonisation by C. albicans in a pregnant woman with a previous history of cervical cerclage and candidal vaginosis at 25 weeks of gestational age (GA). The diagnosis was made following preterm premature rupture of membranes at GA 28 weeks and 6 days. Treatment was started with amphotericin B and was replaced by fluconazole due to an anaphylactic reaction. The persistence of C. albicans in the amniotic fluid after 24 days of treatment prompted the decision to plan an elective caesarean delivery at 32 weeks' GA. The infant showed no signs of fungaemia and had an uneventful clinical course after 14 days of treatment with fluconazole.

Conclusions: Conservative management with intravenous fluconazole in pregnant women with intra-amniotic colonisation by C. albicans at early GA, can contribute to the prolongation of pregnancy while protecting the foetus from fungal disease.

Objectives: With the advancement of next-generation sequencing (NGS), whole-exome sequencing (WES) has proven useful in diagnosing various diseases, particularly neurodevelopmental disorders, during both the prenatal and postnatal periods. In this study, we examined the correlation between the results of chromosomal microarray analysis (CMA) and WES in pregnant women, as compared to conventional karyotype analysis and ultrasound (US) findings.

Methods: Fetal US were performed on pregnant females referred to our clinic with suspected fetal anomalies, as well as those who had anomalies detected by targeted US. Comprehensive counseling was provided to all parents. Karyotyping, CMA, and WES were offered for all fetuses through amniocentesis, CVS, and cordocentesis. We compared the demographic data and ultrasound findings of pregnant females with normal and abnormal WES results.

Results: WES results indicated a normal karyotype in 14 pregnant females and an abnormal karyotype in 12 pregnant females. CMA showed an abnormal karyotype in three of the pregnant females, whose WES results were normal. US findings were more frequently observed in pregnant females with abnormal WES results.

Conclusions: Among the organ systems, the cardiac system is at the highest risk for anomalies. The risk further increases when multiple system anomalies are present. Incorporating WES alongside CMA may enhance diagnostic accuracy and be beneficial for subsequent pregnancies. Our US results do not align with the existing literature, and further evaluations with larger patient populations are needed to reconcile these findings with current research.

Objectives: Haemolytic disease of the fetus and newborn (HDFN) occurs due to maternal IgG alloantibodies that actively cross the placenta and bind to paternally derived fetal antigens on the erythrocytes. The aims of this study were to describe the Slovenian cohort of patients with severe HDFN, who required fetal treatment, to review the fetal treatment strategies, and to describe pregnancy and neurodevelopmental outcomes.

Case series presentation: Data on patients who developed severe HDFN between 2006 and 2021 and were treated at our institution were collected retrospectively. Primary care pediatricians were contacted regarding neurodevelopmental outcomes of surviving infants. There were 19 pregnancies affected with severe HDFN. The most commonly implicated antigen was RhD. Seventeen children were liveborn. Sixteen fetuses were treated with intrauterine transfusion (IUT). Two children had developmental delay at the corrected age of 2 years.

Conclusions: In this study, the Slovenian national cohort of severe cases of HDFN is described for the first time. Prevalence of RhD alloimmunization was higher in comparison to the literature. A combined treatment with therapeutic plasmapheresis, immunoglobulins and IUT was successful. Three quarters of newborns were born in the late preterm period. Overall survival rate and long-term neonatal adverse outcomes in our cohort were in line with the literature.