Case Reports in Perinatal Medicine最新文献

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: 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: 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: 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: 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: 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: 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.