Band 4, Heft 1

Spontaneous rupture of the uterus during the 2 nd and 3 rd trimester resulting from invasive placentation is a rare complication of pregnancy. We report a case of a 39-year-old G6P4, with four previous cesarean sections, who presented at mid-gestation with brown vaginal discharge. Invasive placenta previa was detected upon conducting abdominal ultrasound. The fetal head was seen trapped within the uterine scar, while the fetal body was visualized within the maternal abdominal cavity with intact membranes. In cases with invasive placentation, early attention to uterine rupture may reduce maternal morbidity.

We report on a 30-year-old Caucasian woman admitted to our clinic after 34 weeks of gestation because of a severe partial hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome. A cesarean section was performed when her clinical symptoms and laboratory values worsened. Intraoperatively she was diagnosed with hepatic subcapsular hematoma and liver rupture. Surgical treatment, including perihepatic packing with sterile towels removed 2 days post-surgery, resulted in an uneventful recovery. The patient was discharged 26 days after admission. Case reports such as ours may contribute to the management of pregnancies complicated by hepatic hematoma and rupture of the liver capsule associated to HELLP syndrome.

Peripartum cardiomyopathy is idiopathic heart failure occurring in the last month of pregnancy or during the first 5 months postpartum in the absence of determinable heart disease prior to the last month of pregnancy. We aim to raise awareness for this rare and potentially life-threatening disorder amongst all medical professionals involved in the care for pregnant women. A high index of suspicion is required for its diagnosis. Early recognition and treatment in a multidisciplinary team is vital for good prognosis, which depends on reversal of ventricular dysfunction.

We report a case of two consecutive pregnancies in a patient where a Fontan connection, a cardiac procedure used since 1971 to provide palliation for patients that cannot support a biventricular circulation was used. Here we analyze the anesthesiological and obstetrical aspects particularly regarding some cardiovascular problems that occurred during the pregnancy and delivery.

The management of puerperal hematomas after normal delivery has always been a challenging issue for obstetricians. Vulvar, vulvovaginal, or paravaginal hematomas are common; by contrast, retroperitoneal hematomas after normal delivery are uncommon and can be life-threatening. There are only few case reports about retroperitoneal hematomas in the literature and no standard management has yet to be established. Although pelvic arterial embolization has become a rational and popular method in the management of puerperal hematomas in recent years, it can only be performed if the patient is stable and interventional embolization unit is available. Moreover, the patient with hematoma usually presents with symptoms of shock; hence, rapid intervention is necessary. Considering the suggestions in the literature, management options of retroperitoneal hematomas include conservative management, incision and drainage of the hematoma, pelvic arterial embolization, and hysterectomy. Internal iliac artery ligation is a common mode of puerperal hematoma treatment; however, it has yet to be reported as a treatment modality in retroperitoneal puerperal hematoma. Thus, I present a very rare case of retroperitoneal hematoma after normal delivery, presenting with the symptoms of shock. Visualization and dissection of the retroperitoneal space was challenging in the hematoma site; however, the bleeding was successfully controlled with internal iliac artery ligation. Recovery of the patient was uneventful.

Cervico-isthmic pregnancies (CIP) are often complicated by massive hemorrhage due to placenta previa and adhesion. Herein, we present a case of CIP without placenta previa, complicated by cervical incompetency. A 39-year-old multiparous woman was diagnosed with CIP at 8 weeks. The placenta was located on the normal site, and no significant ultrasonographic findings were noted after 14 weeks. At 20 weeks, a cervical incompetency was complicated. A healthy infant was delivered by a cesarean hysterectomy at term. Histopathological examination confirmed CIP with placenta increta. In cases with CIP without placenta previa, the diagnosis during early gestation and careful evaluation of uterine cervix is essential to avoid severe complications.

An umbilical arteriovenous (AV) fistula is an extremely rare anomaly of the umbilical cord, with only one case being documented in the literature. The purpose of this report is to describe the prenatal sonographic characteristics of such a lesion and its potential complications. We report a case of an umbilical cord AV fistula detected at 24 weeks of gestation in one fetus of dichorionic-diamniotic twins. Color flow and spectral Doppler examinations showed a jet originating from one of the umbilical arteries entering the dilated umbilical vein. Serial ultrasounds revealed relative oligohydramnios and deep A waves in the ductus venosus for the affected twin. Upon performing fetal echocardiography assessment, mild cardiomegaly and dilatation of the inferior vena cava were detected. Chromosomal testing revealed a normal karyotype. The patient continued to be followed for close monitoring of fetal well-being and corticosteroids were administered. Cesarean section was planned for 28–30 weeks, but surprisingly, the oligohydramnios resolved, Doppler studies normalized, and no further intra-uterine growth restriction or fetal compromise was observed. Due to the recurrence of abnormal Doppler studies at 36 weeks of gestation, the patient was admitted for an induction of labor followed by a vaginal delivery of two healthy infants. Given the scarcity of reports regarding umbilical cord AV fistula, it is important to perform an extensive investigation of the affected fetus including karyotype and echocardiography. Furthermore, delivery timing should rely on close surveillance of fetal well-being to avoid the risk of fetal demise.

Spontaneous rupture of an unscarred uterus is an obstetrical emergency. Its diagnosis is often concealed, leading to maternal and foetal mortality. Many risk factors and clinical presentations have been identified. In this case report, we describe postpartum diagnosed uterine rupture in a multigravid woman with a very rare presentation of vaginal omental expression and discuss appropriate management of this presentation.

Single embryo transfer (SET) is the standard of care for in vitro fertilization procedures and is aimed at decreasing the rates of multiple gestations. We highlight a case report of a patient with monochorionic-triamniotic triplet gestations despite SET and discuss the necessity of counseling patients adequately prior to using assisted reproductive technology.

Maternal plasma DNA sequencing based noninvasive prenatal testing (NIPT) has been proven to be highly accurate in the detection of trisomy 21, 18, 13, X and Y, however, few reports have been made on its detection efficiency of rare complex aneuploidies. Here, we report a case of fetal trisomy 9 mosaicism identified by using NIPT, which may provide useful information for the further integration of NIPT into prenatal screening and diagnosis practice.

Congenital tumors arising from the central nervous system are uncommon. A 31-year-old pregnant woman had an uneventful course until 33 weeks of gestation (GW). An ultrasonographic examination at 35 GW first demonstrated an increase in fetal head size. The brain midline shifted to the left side due to the intracranial tumor extending into the orbit in the right hemisphere at 36 GW. The brain teratoma in the fetus was suspected by magnetic resonance imaging of the heterogeneous enhancement and calcification. The male baby was delivered by cesarean section at 36 GW and he had facial dimorphism with right exophthalmos. The tumor volume continued to increase after surgery and the baby died at 123 days of life.

The fetal extrarenal rhabdoid tumor is a highly aggressive and rare neoplasm that mostly occurs in the first year of life. In this case, a remarkably enlarged right upper arm was diagnosed in a male fetus at 31+2 weeks of gestation. Because of a fast progressive tumor volume and signs of fetal distress, a cesarean section was performed at 34 weeks of gestation. The preterm baby showed a blue livid tumor reaching from the right elbow up to the shoulder that resulted in an extrarenal rhabdoid tumor on histopathologic analysis. A therapeutic trial with cyclophosphamide was not effective and the child died at the age of 26 days because of multi-organ failure.

Amniotic bands are believed to be formed as a result of chorio-amniotic membrane separation, which produces free-floating tissue bands. These amniotic bands can cause a wide range of clinical abnormalities, known as amniotic band syndrome. Amniotic bands can also be swallowed by the fetus, thus causing, for instance, facial clefting. However, few studies have reported swallowing of amniotic bands. Thus, we report a case of a term infant who was born with a large ingested amniotic band hanging from the mouth.

Casamassima-Morton-Nance (CMN) syndrome (OMIM 271520) has clinical overlap with spondylocostal dysostosis and Vertebral, Anorectal, Cardiac, Tracheo-Esophageal, Radial/Renal, Limb (VACTERL) association but with consistent features of anal and urogenital abnormalities, particularly ambiguous genitalia. Since the original report, it has become clear that the combination of vertebral segmentation abnormalities, rib abnormalities, and urogenital anomalies may enable prenatal diagnosis of CMN by ultrasound. CMN syndrome is an important diagnosis to consider prenatally because of the generally poor prognosis compared to the more common VACTERL association. Here we present the seventh reported case of CMN syndrome. Prenatally presenting features of multiple segmentation anomalies within the spine, a left multi-cystic dysplastic kidney, marked pelvicaliectasis with abnormal renal parenchyma and a small stomach were suggestive of VACTERL association. There was severe oligohydramnios. Termination of pregnancy was performed at 22 weeks gestation and autopsy revealed dysmorphic coarse facial features, marked scoliosis, bilateral talipes, ambiguous external genitalia, and anal atresia. These features were highly suggestive of CMN syndrome. The important discriminating feature of ambiguous genitalia was not apparent on the prenatal ultrasound in this case because of severe oligohydramnios but we suggest that careful prenatal ultrasound assessment of the genitalia in cases of suspected VACTERL is important in differentiating these two conditions.

Uhl anomaly is an extremely rare condition, and herein, we present a case of prenatally diagnosed Uhl anomaly to illustrate the associated echocardiographic features. Fetal echocardiography at 26 weeks indicated an enlarged right ventricle, severe tricuspid and pulmonary regurgitation, and ruptured ventricular septal aneurysm, resulting in a circular shunt. At 36 weeks, based on the presence of a thin ventricular wall and absence of apical trabeculation, a diagnosis of Uhl anomaly was made. The neonate, delivered by cesarean section, underwent main pulmonary artery ligation to eliminate the circular shunt immediately after birth. Moreover, he underwent ductus arteriosus ligation and received a pulmonary artery to aorta shunt for progressive lung congestion. He is currently well and awaiting a staged Fontan operation involving a bidirectional Glenn procedure. Understanding and accurate prenatal diagnoses of Uhl anomaly may help in parental counseling, planning appropriate perinatal care, and increasing the chances of survival.

Background: The single nucleotide polymorphism (SNP) microarray technology has emerged as a powerful tool to screen the whole genome for sub-microscopic duplications and deletions that are not detectable by traditional cytogenetic analysis. Case: We report a case of a female twin born at 27 th week of gestation who died 1 day after birth whereas the co-twin survived without complications. The case twin was referred to our unit for autopsy, and in addition we performed an SNP microarray analysis. Results: Three copy number variants (CNVs) were identified by the SNP microarray analysis. The most interesting CNV in relation to the clinical phenotype (pulmonary immaturity) was a disruption in the gene ST6GALNAC3 (1p31.1) that is involved in the biosynthesis of gangliosides. Conclusions: It is unknown from this case report whether the CNV at 1p31.1 contributes to a genetic predisposition that is related to maturation of the lungs or the perinatal death of one of the twins. However, disruptions in the biosynthesis of gangliosides have been previously associated with premature death in mice.

IMAGe syndrome (Intrauterine growth restriction (IUGR), Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies) is a rare, multisystem disorder caused by mutations in the PCNA-binding domain of CDKN1C. Reported here is a male infant diagnosed with IMAGe syndrome by CDKN1C sequencing at 3 months of age. He presented with IUGR, primary adrenal insufficiency with adrenal crisis in the neonatal period, dysmorphic facies, and bilateral cryptorchidism. Interestingly, he demonstrates several additional clinical findings not previously reported with IMAGe syndrome including congenital hypothyroidism, recurrent bacterial infections, and severe eczema.

Stenotrophomonas maltophilia is an important but rare cause of late onset neonatal sepsis in extremely low birth weight (ELBW) infants. These infections are difficult to treat due to the multiple drug resistance profile of the organism. One class of antibiotics available for use is the quinolones, such as ciprofloxacin and levofloxacin. However, the limited experience and known toxicity of levofloxacin raises further concerns regarding its use in this patient population. We present a case of refractory shock in an ELBW infant following the use of levofloxacin to treat S. maltophilia infection. The use of levofloxacin in ELBW infants may be associated with major hemodynamic compromise and, accordingly, we recommend caution for its use in this patient population.

Congenital ADAMTS-13 deficiency is rare, with only between 150 and 200 living cases described internationally. It can present in the neonatal period with thrombocytopenia that may be associated with thrombosis rather than haemorrhage, microangiopathic haemolytic anaemia (MAHA) and jaundice requiring exchange transfusion. We report a case of a large cerebral infarction resulting from severe ADAMTS-13 deficiency in the immediate neonatal period. The diagnosis of ADAMTS-13 deficiency should be considered in babies with haemolytic anaemia, jaundice, thrombocytopenia and a negative direct antiglobulin (Coombs) test (DAT). It is important to diagnose and treat early in order to prevent further brain and kidney damage.

Background: The syndrome of Rowland Payne is a rare triad of unilateral Horner syndrome, ipsilateral vocal cord paralysis, and ipsilateral paralysis of the hemidiaphragm. Case: A healthy newborn was noted to have right ptosis, a weak hoarse cry, and stridor immediately following delivery with forceps. Pupillary miosis on the same side as the ptosis was observed. Chest X-ray showed elevation of the right diaphragmatic dome. A diagnosis of Rowland Payne syndrome was made. Neuroimaging did not reveal any structural mass lesions. The hoarseness and stridor resolved within 1 month without intervention. The Horner syndrome improved but did not disappear completely. Conclusion: In the few reported cases in the literature, the cause of Rowland Payne syndrome has been a malignant lesion of the anterior neck disrupting the oculosympathetic nerve, the vagus nerve, and the phrenic nerve. This is the first report of Rowland Payne syndrome in a neonate. We did not find any malignancy or compressive lesion to account for his symptoms and signs. We suggest that shearing forces at the lower neck at the level of the clavicle caused stretching and mechanical injury to these motor nerves or their branches. In this report of Roland Payne syndrome related to birth trauma, the prognosis was favorable.