Objectives:X-linked chondrodysplasia punctata type 1 (CDPX1) is a rare skeletal dysplasia caused by pathogenic variants in ARSL (Arylsulfatase L), formerly known as ARSE (Arylsulfatase E), resulting in defective arylsulfatase E activity and abnormal cartilage matrix formation. It is typically defined by stippled epiphyses, nasomaxillary hypoplasia, and brachytelephalangy, but the condition has phenotypic variability. We report an infant with a pathogenic ARSL variant (NM_000047.3:c.1442C>T; p.Thr481Met) to highlight an exceptionally severe and complex phenotype. Case presentation:A male infant was born at term following a caesarean section. A narrow sacral spine, a flat facial profile and an absent nasal bridge had been detected antenatally. He developed refractory respiratory failure with recurrent lung collapse and pneumothoraces in the first 3 months, associated with diffuse tracheobronchial calcification and progressive high cervical myelopathy on radiological evaluation. From 5 months of age, he experienced episodes of abrupt cardiorespiratory arrest linked to movement. Stabilisation of the neck markedly reduced those events temporarily, implicating dynamic cervical cord compression as the precipitating mechanism. He required prolonged mechanical ventilation, had recurrent infections and progressive neurological impairment and hydrocephalus warranting long term respiratory and neurosurgical follow up. This case represents one of the first descriptions of movement-related autonomic reflex asystole secondary to cervical cord compromise in ARSL-related CDPX1. Conclusions:Our report broadens the clinical spectrum of CDPX1 to include dynamic cervical cord compression with potential secondary autonomic cardiac events. Early genetic confirmation, anticipatory airway and spinal imaging, extensive respiratory and multidisciplinary management are essential for early recognition, prognostication and prevention of potentially fatal outcomes in severe forms of this rare disorder.
Objectives:Advanced primary abdominal pregnancy, an extremely rare condition, poses diagnostic challenges and carries a risk of serious maternal and perinatal complications. In the absence of evidence-based protocols, current management approaches are predominantly guided by anecdotal reports and individual clinical judgment. We report a case of primary advanced abdominal pregnancy in a primigravida. Case presentation:A 26-year-old asymptomatic woman at 31 + 6/7 weeks' gestation was referred for routine third-trimester ultrasonography, which revealed a non-gravid uterus, a viable extrauterine fetus, oligohydramnios, and placental invasion of the right pelvic wall. Magnetic resonance imaging confirmed these findings and demonstrated placental compression of the right ureter with moderate hydroureteronephrosis. A multidisciplinary team was assembled. At 32 + 6/7 weeks, cystoscopic-guided ureteric stenting followed by midline laparotomy resulted in the delivery of a live female neonate. Due to extensive placental vascularity and critical attachments, the placenta was left in situ, and postoperative methotrexate alternating with folinic acid was administered to promote placental involution. The postoperative course was uneventful. Serial follow-up imaging showed progressive placental regression. Conclusions:Even when facing a rare, challenging condition, favorable maternal and neonatal outcomes can be achieved through accurate pre-operative diagnosis, early involvement of a multidisciplinary team, thoughtful intra-operative decision-making, and meticulous post-operative care.
Objectives:This work aims to characterize the clinical manifestations and diagnostic challenges associated with pregnancies affected by congenital myotonic dystrophy through a detailed case report of an individual seen in our center and a comprehensive case series overview. Case presentation:A 33-year-old woman presented at 33 weeks-gestation with symptomatic severe polyhydramnios (AFI 55.2) and an otherwise uncomplicated prenatal course with no anomalies on ultrasound. She underwent amnioreduction, which initially revealed normal genetic testing results (46,XX karyotype and normal microarray). At 34 weeks, she underwent repeat cesarean delivery for new-onset non-immune hydrops fetalis. Because of the hydrops, severe hypotonia, and respiratory distress requiring intubation of the neonate, further genetic testing was performed and was positive for congenital myotonic dystrophy (1,880 CTG repeats in DMPK). This testing also indicated that the mother had >200 repeats, consistent with myotonic dystrophy type 1. Conclusions:Idiopathic polyhydramnios and non-immune hydrops fetalis, even in the absence of structural anomalies, should prompt consideration of neuromuscular conditions such as congenital myotonic dystrophy in the differential diagnosis.
Objectives:Inborn errors of metabolism (IEMs) result from pathogenic variants in genes involved in essential metabolic pathways. Newborn screening (NBS) using tandem mass spectrometry (MS/MS) has facilitated the early detection and diagnosis of IEMs, enabling timely medical intervention and improved clinical outcomes. This study introduces a novel pathogenic variant in the BCKDHB gene in a case of maple syrup urine disease (MSUD) diagnosed through the NBS program in northern Iran. Case presentation:Dried blood spot samples from newborns were analyzed using MS/MS (Shimadzu LCMS-8045, Japan), which identified a consanguineous case suspected of having MSUD. The confirmatory HPLC test revealed elevated levels of threonine, valine, isoleucine, and allo-isoleucine, indicating MSUD. Genetic analysis identified a homozygous frameshift variant, c.773dupT (NM_183050.4, p.Leu260ThrfsTer12), in exon 7 of the BCKDHB gene. Conclusions:The identification of novel pathogenic variants in MSUD patients, along with phenotype-genotype correlations, may predict the clinical severity of the variant and offer prognostic value, particularly for individuals with this specific variant.
Objectives:Acute pulmonary edema during pregnancy is a rare but serious complication, particularly in association with magnesium sulfate therapy for tocolysis. This case report describes a 27-year-old woman with a twin pregnancy who developed acute pulmonary edema after 3 days of magnesium sulfate treatment. Case presentation:The patient presented with chest tightness, dyspnea, and respiratory distress. Immediate clinical intervention included discontinuation of magnesium sulfate and administration of furosemide to reduce cardiac preload. She was managed with diuretics, sedatives, and inotropic agents. Both infants were delivered successfully, and the patient recovered after supportive care in the intensive care unit. Conclusions:This case highlights the potential risks of fluid retention and the importance of monitoring maternal fluid status during tocolysis. It also emphasizes the need for vigilance in managing twin pregnancies with magnesium sulfate therapy to prevent serious complications such as pulmonary edema. Clinicians should be aware of this rare but potentially life-threatening complication and ensure that fluid balance is carefully monitored in such cases.
Objectives:Uterine rupture before the onset of labor is a rare but life-threatening obstetric emergency. This condition carries a high risk of maternal and fetal morbidity and mortality and requires prompt and careful management. Case presentation:A 26-year-old woman, gravida 3 and parity 2, was admitted to the gynecology department with complaints of abdominal pain in her 23rd week of pregnancy. During evaluation, a decrease in hemoglobin levels was noted, and abdominal MRI revealed uterine rupture. Uterine rupture was surgically repaired with a double-layer suture with fetal preservation. Following uterine repair, the pregnancy was successfully prolonged by more than 10 weeks and the patient delivered a healthy newborn at 33 weeks and 6 days. Conclusions:Early diagnosis and appropriate surgical intervention allowed the continuation of pregnancy and delivery at 33 weeks and 6 days resulting in favorable neonatal outcomes in this high-risk case. Uterine rupture in the mid-trimester increases the complexity of management, as traditional intervention strategies may need to be adapted to ensure both maternal and fetal safety. This case supports conservative surgical repair as a potential management option in carefully selected cases of mid-trimester uterine rupture.
Objectives:Congenital epulis (CE) is a rare benign tumour typically arising from the alveolar ridge and more frequently observed in female neonates. The report highlights its potential impact on neonatal breathing and feeding, emphasizing the importance of early recognition and management. Case presentation:We present a case of a female neonate with a giant CE detected on prenatal ultrasound. After the birth the lesion interfered with feeding, while respiratory function remained unaffected. Three masses were surgically dissected from the maxillary mucosa and the neonate successfully transitioned to oral feeding within the first week. Histopathological examination revealed a granular cell tumour with negative immunoreactivity for S100. Conclusions:The case underlines the significance of prenatal diagnosis, collaborative multidisciplinary planning, and, when indicated, the application of the EXIT procedure for congenital orofacial tumours with potential airway obstruction. Early recognition and integrated care can substantially improve neonatal prognosis.
Objectives:Premature constriction of the fetal ductus arteriosus is a clinically relevant cause of fetal cardiac compromise. Maternal exposure to prostaglandin-inhibiting analgesics is a recognized trigger. We describe two pregnancies complicated by fetal ductus arteriosus constriction temporally associated with maternal analgesic use. Case presentation:In the first case, ductal constriction occurred after a seven-day course of indomethacin initiated at 28 weeks' gestation for polyhydramnios. Although initial improvement followed drug discontinuation, recurrent constriction with right ventricular dilation, severe tricuspid regurgitation, ductus venosus A-wave reversal, and a non-reactive fetal heart rate tracing indicated progressive hemodynamic compromise, prompting preterm delivery at 31+6 weeks. Postnatal echocardiography showed normalization of right ventricular function. In the second case, ductal constriction with right ventricular dilation and tricuspid regurgitation was detected at 38+5 weeks after frequent third-trimester use of a paracetamol-containing analgesic. Delivery at 39 weeks was performed primarily for prior uterine surgery, and postnatal evaluation confirmed normal pulmonary pressures and right ventricular function. Conclusions:Maternal exposure to prostaglandin-inhibiting analgesics should be considered in cases of fetal ductus arteriosus constriction. Careful medication history and targeted fetal echocardiography are essential for timely diagnosis and appropriate perinatal management.
Objectives:Primary hyperaldosteronism can present during pregnancy. Due to its rarity and to the physiological changes occurring during pregnancy, diagnosis might be delayed with potential complications imposed on the mother and newborn. Case presentation:We report a 46-years-old middle eastern patient with chronic hypertension, who conceived with assisted reproductive technologies and was diagnosed with PA. She was referred back to cardiology for re-evaluation of her resistant hypertension. Serum electrolytes showed low potassium, high aldosterone, and high renin to aldosterone ratio. Magnetic resonance imaging of the adrenal glands revealed a unilateral nodule in the left adrenal gland. The patient was maintained on three antihypertensives; unfortunately, her pregnancy was complicated by intrauterine growth restriction and preterm delivery for preeclampsia with severe features. Conclusions:Primary hyperaldosteronism is a rare complication of pregnancy that is challenging to diagnose. However, timely and accurate diagnosis are essential to initiate appropriate treatment to ensure optimal fetal and maternal outcomes.
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).
This report describes the case of an infant with congenital thrombotic thrombocytopenic purpura. 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. 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 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.
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:Partial trisomy of chromosome 1 has been reported following unbalanced translocations with partial monosomies of other chromosomes and rarely as a pure partial duplication. We aim to discuss partial trisomy 1q with cytogenetics and describe our findings of this uncommon chromosomal aneuploidy. Case presentation:A male term neonate presented with antenatal ventriculomegaly and early fetal growth restriction. He was dysmorphic at birth and his postnatal course was complicated by transient myeloproliferative disorder, neonatal seizures, skin rash, conjugated hyperbilirubinemia, and milk protein allergy. Etiological work-ups including congenital infections, immunological disorders, and inborn error of metabolisms were negative. The findings of transient myeloproliferative disorder in association with partial 1q trisomy which have not been previously described in the literature, raise the possibility of abnormal vasculature of generalized nature, resulting in cutis marmorata, signs of intestinal inflammation, and abnormal cerebral vascular supply. Conclusions:This case study highlights the importance of pooling cases with similar locations of duplication, segment size, and related chromosomal deficiency together to understand distinct clinical phenotypes.
