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Objectives Hemophagocytic lymphohistiocytosis (HLH) is a rare disorder of hypercytokinemia and immune dysregulation. Most commonly diagnosed in the pediatric population due to genetic predisposition, the condition can manifest in the adult population secondary to an immune dysregulating event, such as infection, malignancy, rheumatologic disorders, immunodeficiency, and checkpoint inhibitors. The presentation and diagnosis during pregnancy are extremely rare and elusive. We present a case of secondary HLH during the peripartum period, urging obstetrical providers to keep the condition as part of their differential diagnosis. Case presentation A 20-year-old Gravida 1, with a past medical history significant for non-alcoholic hepatosteatosis and morbid obesity, presented multiple times to the emergency department in the third trimester with liver function test derangements and vague complaints of subjective fevers and fatigue. She eventually tested positive for COVID-19. Two weeks after the initial presentation, she went into spontaneous preterm labor and delivered. Postpartum, her liver dysfunction worsened in association with high fevers and persistent tachycardia. After an extensive workup failed to reveal an etiology, HLH was suspected. Labs were sent for confirmation, and she was initiated on pulse-dose steroids. However, the patient acutely decompensated and succumbed to the disease. Several days later, labs resulted, confirming the diagnosis of HLH. Conclusions In peripartum patients presenting with severe derangements in liver function tests and vague symptoms with undulating episodes of pyrexia, HLH should be considered early as part of the differential diagnosis. This is particularly true when antibiotics or postpartum status fail to alleviate the symptomatology or improve the clinical course.

Objectives To add to the nascent literature on twin anemia polycythemia sequence by presenting a unique cardiac complication in the recipient twin. Case presentation We describe a monochorionic diamniotic pregnancy complicated by twin anemia polycythemia sequence wherein the recipient twin developed signs of right heart failure secondary to premature ductus arteriosus constriction, requiring iatrogenic preterm delivery to avoid intrauterine demise. Conclusions This case report introduces a previously undescribed complication of twin anemia polycythemia sequence and adds to the growing literature on this clinical entity.

Objectives Acute fatty liver of pregnancy (AFLP) is a rare, potentially fatal complication of unknown etiology that occurs in the third trimester or early postpartum and can be associated with adverse maternal and fetal outcomes. The purpose of this report is to share a case of AFLP in which a period of objective and symptomatic resolution preceded delayed postpartum liver failure and liver transplant. Case presentation A 35-year-old G3P0020 female experienced preterm premature rupture of membranes (PPROM) at 32 weeks’ gestation and AFLP. She delivered vaginally and despite apparent initial disease resolution, was found 22 days later to have fulminant acute liver failure that required liver transplantation. Conclusions AFLP should be monitored closely postpartum even if disease parameters initially appear to resolve after delivery.

Objectives To detect fetal hyaloid artery (FHA) blood flow using Slow flow HD in the first trimester. Methods During the 8-month period from February to September 2023, one-hundred and eighty-three trans-abdominal scans were performed for first-trimester screening in singleton pregnancies at 11–13 + 6 weeks of gestation. One-hundred and fifty-two cases were excluded from the study due to inappropriate fetal positions, excessive fetal movements, and excessive distances between the fetus and probe; thus, thirty-one fetuses (20.4 %) were examined, comprising 19 uni- and 12 bilateral orbits. One fetus with trisomy 21 was also evaluated at 12 weeks and 1 day. FHA was classified into two types based on the starting point angle (Straight, straightly diverged from ophthalmic artery; and Curved, crookedly diverged from ophthalmic artery) using Slow flow HD. Results In 19 uni- and 12 bilateral orbits in 31 fetuses, FHA could be identified in all orbits. In one orbit at 13 weeks and 5 days, blood flow on the string FHA could be detected. The vasa hyaloidea propria was noted in 3 orbits, and the posterior vascular capsule was depicted in 7 orbits. The incidence of Straight-type FHA increased with advancing gestation (p<0.0001). In a fetus with Trisomy 21, Straight-type FHA was noted in the left orbit, whereas FHA could not be identified in the right orbit. Conclusions This is the first report on the detection of FHA in the first trimester of pregnancy. Slow flow HD may be a useful diagnostic modality to evaluate human vascular development, such as FHA in utero .

Objectives To describe the prenatal diagnosis, unique clinical features, clinical and genetic evaluation, and the pregnancy and neonatal course of two siblings affected by Lethal Congenital Contractural Syndrome 2 (LCCS2). Case presentation We present two cases of LCCS2, a rare autosomal recessive disorder in the arthrogryposis multiplex spectrum of syndromes whose sine qua non feature is the presence of nonobstructive, neurogenic megacystis. The prenatal diagnosis of this syndrome has not been previously reported. This syndrome has been previously studied in detail in an Israeli-Bedouin kindred but it has not been reported in the Americas. Conclusions These two cases illustrate the diagnostic and therapeutic dilemmas associated with this rare genetic abnormality. LCCS2 can be seen in other patient populations besides Israeli-Bedouin. They also suggest the presence of phenotypic variability in the clinical outcomes. Finally, they underscore the need for specialized diagnostic capabilities, the involvement of multidisciplinary teams to support challenging family situations, and the need for shared decision-making.

Objectives Childhood visual impairment due to congenital malformation leads to severe handicaps and lifelong consequences for the affected child. Congenital anophthalmia remains a rare condition marked by a child born with an empty eye socket. The embryonic plant of the eye occurs approximately on day 22 of intrauterine development and ends within the first trimester of pregnancy. Mutations in the RAX gene located on chromosome 18 (# 601881) cause a spectrum of head malformations, ranging from isolated microphthalmia/anophthalmia with cleft lip and palate to complex brain malformations. Case presentation Here, we present a child’s case diagnosed with bilateral anophthalmia at 33 weeks of gestation. The newborn was delivered vaginally with a RAX -gene-linked syndrome. Besides craniofacial malformations (bilateral anophthalmia, craniofacial hypoplasia, bilateral cleft lip), the female child had severe endocrine dysfunction (congenital hypopituitarism and diabetes insipidus) postnatal that required specialised monitoring and clinical management. Our case study reports a novel homozygous autosomal recessive non-sense mutation (c.106G>T; p.Glu36Ter) of the RAX gene. This is the first description of this pathogenic gene variant in the literature. Conclusions Early and precise sonography is crucial in detecting these conditions on time to prepare postpartum care and avoid delays in optimal clinical treatment for the affected child. This case report aims to raise the scientific community’s awareness about this rare genetic syndrome, showing an individualised two-year follow-up program that could help guide physicians and future parents of affected children.

Objectives Umbilical artery thrombosis (UAT) is a rare and severe condition associated with grave perinatal outcomes, including intrauterine fetal death. This case report presents the case of a 38-year-old woman (gravida 3, para 1) of Japanese ethnicity, with a history of one spontaneous miscarriage, who conceived through micro-insemination and blastocyst transfer. Case presentation Initial patient screening at 30 weeks and 6 days of gestation revealed normal fetal development, with two umbilical arteries and one umbilical vein. However, at 34 weeks and 5 days of gestation, we observed reduced fetal movements and the absence of accelerations on cardiotocography. Subsequent color Doppler examination revealed cessation of blood flow across a broad area in one umbilical artery and a strongly curved umbilical vein surrounding the blood flow of the other artery. These formed the ‘orange grab sign,’ suggestive of UAT. Evaluations of blood flow in other areas revealed unremarkable findings. We performed an emergency cesarean section owing to fetal distress. The mother and newborn were healthy and discharged as healthy. The 1-month check-up revealed no abnormalities in the child. Pathological examination of the umbilical cord revealed fibrin-based thrombus formation along the length of one artery, confirmed to be an umbilical artery. Conclusions In the present case report, we presented the diagnostic challenges of UAT. Furthermore, we highlighted the need for timely intervention by comparing the number of umbilical vessels among previous ultrasound findings and verifying the presence of the ‘orange grab sign.’

Objectives Diverticulitis, characterized by inflammation or infection of diverticula, is rarely observed during pregnancy due to its association with elderly patients. Limited literature exists regarding its diagnosis and management in pregnant patients, especially in the setting of complications. Case presentation This paper presents a case of a 37-year-old multiparous woman diagnosed with complicated diverticulitis, including colovesical fistula and bladder abscess formation. Conclusions This paper highlights the importance of considering diverticulitis in pregnant patients with abdominal pain, the need for timely diagnosis, and the significance of multidisciplinary care.

Objectives Fetal dyshormonogenetic goiter is a rare condition associated with perinatal complications and sequelae in infants. Although prenatal management remains controversial, further evidence is required for optimal management. Case presentation A 30-year-old pregnant woman with no history of thyroid disease was referred to our hospital with polyhydramnios. Fetal ultrasonography revealed fetal goiter. Cordocentesis revealed increased thyroid-stimulating hormone (TSH) and low levels of free thyroxine 4 (fT4), which was the basis of diagnosis of fetal hypothyroidism. Intra-amniotic injections of levothyroxine were administered, resulting in a reduction in the goiter size, amount of amniotic fluid, and level of maternal TSH. The mother was euthyroid during pregnancy. The infant was delivered vaginally at full term with a normal thyroid size and no respiratory disorders except hypothyroidism. At 2 years of age, her neurodevelopment is normal. Conclusions Intra-amniotic injections of levothyroxine for fetal hypothyroidism with massive goiter and polyhydramnios may improve perinatal outcomes.

Objectives Monochorionic multiple pregnancies are being increasingly encountered. Early embryo reduction by interstitial laser is an option of therapeutic intervention. The patient counseling is mainly focused on miscarriage and fetal demise but this case report highlights that the counseling also needs to mention the possibility of developing Aplasia cutis congenita post intervention and that interstitial laser though technically feasible can have rare complications. Case presentation This was a uncommon form of twinning diagnosed as monochorionic triamniotic triplet pregnancy where the parents wanted to continue with a single fetus. Interstitial laser was performed in two of the embryos, which became papyraceous. The newborn on delivery was seen to have extensive skin scarring on the trunk which was diagnosed as Aplasia cutis congenita . Conclusions Awareness on complications on early interstitial laser procedures beyond miscarriage and fetal demise and the psychological impact on the parents of seeing the scarred neonate for the first time, if they have not been made aware of this complication.

Objectives Fetal bladder rupture is rare and mainly caused by lower urinary tract obstruction (LUTO). Our case report describes a rupture at a gestational age of 31 weeks following high-dose maternal opioid exposure during intensive care treatment. Opioids perturb the interplay of afferent and efferent signals between the bladder, urethra, and the central nervous system (CNS) which is crucial in contributing to urinary retention. They rapidly cross the human placenta, affecting also the fetus. To date, there is no clear proof of the connection between maternal opioid treatment and fetal bladder rupture, but the association seems to strengthen. Case presentation A 18-year old first Gravida at 31 weeks of gestation developed a severe sepsis with progressive hypoxic lung failure and need for intubation. During the ICU-treatment, several opioids were administered for sedation and pain relief. Four days after induction of opioid treatment the ultrasound revealed a decompressed fetal bladder, hematoma and significant ascites. Fetal bladder rupture with urinary ascites was suspected. A caesarean section was performed at 33 weeks of gestation due to massive fetal urinary ascites, fetal deterioration and imminent abdominal compartment syndrome. Adequate ventilation and circulation could only be established after percutaneous drainage of 350 mL of abdominal fluid, that was confirmed to be urine. A defect of the bladder was confirmed by ultrasound. On the fifth day of life, the bladder was closed surgically by pediatric surgery. Conclusions Growing awareness of the possible connection between maternal opioid therapy and fetal bladder rupture is necessary to plan follow-up ultrasound examinations to assess the fetal situation.

Objectives Myotonic dystrophy 1 (DM1) is an autosomal dominant inherited neuromuscular disorder. The most severe form is congenital myotonic dystrophy (cDM). Prenatal diagnosis is complicated and sonographic findings of cDM that are not pathognomonic occur in the late second or early third trimester of pregnancy. Case presentation It is the case of prenatally diagnosed cDM. In 32 weeks of pregnancy multiple sonographic findings such as severe polyhydramnios, bilateral talipes, fetal legs akinesia, macrocephaly with mild bilateral ventriculomegaly, right-sided pleural effusion and diaphragmatic pathology were observed by fetal medicine specialist. As the patient complained of weakness in her limbs, she was consulted by a neurologist. The neurological examination revealed a pathognomonic sign of DM1 – grip myotonia. The amniotic fluid and the mother’s blood sample were further tested for DM1. This identified >150 repeats in one copy of the DMPK gene of the both, which is consistent with the diagnosis DM1. Conclusions The sonographic findings of fetal limb abnormalities with progressive polyhydramnios is an indication for maternal neurological examination and genetic testing due to myotonic dystrophy.

Objectives Autoimmune hepatitis (AIH) is a chronic inflammatory disease of unknown etiology and AIH in pregnancy is associated with many adverse maternal and fetal outcomes. The purpose of this report is to share insight into management of AIH-induced pancytopenia unresponsive to steroids and transfusions. Case presentation A 29-year-old G4P0121 female with history of spontaneous bacterial peritonitis (SBP) and severe pancytopenia secondary to AIH was found to be incidentally pregnant at 7 weeks gestation. Despite multiple blood transfusions and steroids, her pancytopenia was unresponsive to therapy. At 33 weeks, she underwent primary cesarean section for persistent category II fetal heart tracing and delivered a viable infant. Delivery was complicated by hemorrhage requiring multiple blood products. Postpartum course was complicated by sepsis secondary to urinary tract infection, and decompensated cirrhosis with hepatic encephalopathy and coagulopathy. Both fetus and mother have recovered well 3 months post-delivery. Conclusions This case highlights the challenges in management of AIH in pregnancy, particularly the difficulty in treating severe unresponsive pancytopenia as well as balancing the need for immunosuppression with the increased risk of infection that may lead to sequelae such as SBP and puerperal sepsis.

Objectives Chorioangiomas are the most frequently occurring type of benign tumour of the placenta. However, large chorioangiomas greater than 4 cm are rare and can be more frequently associated with serious complications such as: polyhydramnios, hydrops fetalis, fetal anaemia, intrauterine growth restriction, preterm birth, and an increased risk of perinatal mortality. Importantly timely prenatal diagnosis with close surveillance alongside potential intrauterine intervention can prove impactful on pregnancy outcome and fetal survival. Case presentation We present a case of a 36-year-old female referred to our tertiary fetal medicine unit at 28 weeks’ gestation with a large chorioangioma measuring 9.4×8.8×5.5 cm and ultrasonographic evidence of severe fetal anaemia and fetal hydrops. The patient underwent an intrauterine transfusion and in utero surgical therapy with radiofrequency ablation (RFA). Immediately following the procedure, the fetus sustained a period of bradycardia, followed by asystole. Delivery was expedited via emergency caesarean section. Careful planning and rapid delivery after fetal intervention within the most appropriate surgical setting mitigated risks for the baby and resulted in a positive outcome. The baby was discharged from the neonatal unit on day 84 of life. Conclusions Large placental chorioangiomas are a rare occurrence, however, when associated with fetal complications present a high incidence of adverse perinatal outcomes. In utero interventions require careful planning and surgical expertise to ensure improved fetal and neonatal outcomes. To the best of our knowledge this case is the first recorded instance of a successful postnatal outcome following RFA for a large placental chorioangioma, whereby the fetus was complicated by fetal hydrops.

Objectives To present a case of acquired factor VIII deficiency in the setting of labor and describe the challenges of its diagnosis and treatment. Case presentation A 31-year-old woman was diagnosed with acquired factor VIII deficiency while undergoing induction of labor. Her labor and post operative course were complicated by epidural hematoma formation, prolonged postoperative surgical site bleeding, and subcutaneous hematoma. Management included blood products, human Factor VII, rituximab, and a steroid taper. Conclusions Acquired factor VIII deficiency can be challenging to diagnose and should be considered in the differential diagnosis in patients with prolonged bleeding accompanied by a prolonged activated partial thromboplastin time (aPTT).

Objectives Congenital tuberculosis (TB) is a rare complication of TB during pregnancy. Diagnosis and treatment are challenging, especially in premature infants due to limited data on drug dosing. Case presentation A male infant was born at 33 weeks gestational age to a mother who was hospitalized with respiratory illness and diagnosed with TB after delivery. The diagnosis was based on the presence of granulomas and mycobacteria in the placenta, positive mycobacterium TB PCR in gastric aspirate, and growth of MTB from gastric aspirate and bronchoalveolar lavage cultures. Treatment started initially with isoniazid, rifampin, pyrazinamide, and ethambutol. The patient’s clinical course was complicated with ongoing respiratory distress and abdominal distension which raise the possibilities of drug resistance, but sensitivity was confirmed by PCR, or malabsorption of the medications due to concerns of abdominal TB. Isoniazid and rifampin doses needed to be adjusted due to low serum drug levels. Ethambutol was replaced by Levofloxacin, due to concerns about drug toxicity and unreliable therapeutic levels, but still there was no clinical improvement which raised the possibility of paradoxical reaction to the treatment, so we started the patient on prednisone for one month and tapered over two weeks. From age two months the patient showed progressive improvement and has by now completed 12 months of therapy with good clinical outcome. Conclusions Therapeutic drug monitoring is important for adjusting medication dosage in premature infants due to limited experience in this age group.

Objectives To describe the course of an infant with persistent pulmonary hypertension of the newborn (PPHN) secondary to premature closure of the ductus arteriosus (DA), a very rare phenomenon which can lead to adverse clinical outcomes. Case presentation A term infant was diagnosed with severe PPHN with echocardiographic features noted at 6 h after birth which included supra-systemic pulmonary pressures, severe isolated right ventricle (RV) hypertrophy, poor RV dysfunction and no ductal flow in the context of a structurally normal heart. There was maternal use of low-dose aspirin in pregnancy due to preeclampsia. There is a known association between use of prostaglandin synthase inhibitors such as aspirin with ductal closure leading to increased RV pressure. Treatment was commenced with positive pressure ventilation, inhaled nitric oxide (iNO) and milrinone. There was a limited response to iNO necessitating increasing the concentration of milrinone with a marked improvement in oxygenation. Following commencement of sildenafil, inhaled nitric oxide was gradually weaned and stopped in the third week and the infant extubated. The infant was discharged home on oral sildenafil at four weeks of age with no respiratory or feeding support. Echocardiographic features of raised right sided pressures persisted, but with reduced RV hypertrophy and septal flattening and improved RV function. Oral sildenafil was subsequently weaned and stopped at four months of age. Conclusions A severe form of PPHN due to premature closure of the DA requires early discussion with the cardiologist. The use of milrinone and sildenafil can lead to a favourable outcome.

Objectives Aromatase deficiency is a rare autosomal recessive condition due to a mutation in the CYP19A1 encoding aromatase enzyme. This enzyme protects the fetus and mother from excess androgens by converting them into estrogen. We are reporting a case of aromatase deficiency presented with atypical genitalia and maternal virilization due to a novel mutation in CYP19A1 . Case presentation A 10-day-old newborn presented with atypical genitalia and a history of maternal virilization during pregnancy. On examination, the baby had a Prader score of 3. Further investigation revealed karyotype 46 XX, with a normal uterus and ovaries on ultrasonography. The hormonal profile of the baby was normal except for the raised follicle stimulating hormone (FSH). Maternal ultrasound revealed polycystic ovaries, and the hormonal profile was within the normal range with slightly raised testosterone. Whole exome sequencing was done, which reported that the baby was carrying a novel homozygous mutation of the CYP19A1 gene c.575G>C p. (Arg192Pro), confirming the diagnosis of aromatase deficiency. Conclusions Aromatase deficiency is a rare condition. A history of maternal virilization during pregnancy in a child born with atypical genitalia should alert physicians to consider aromatase deficiency.