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... Amniotic band syndrome, Pentalogy of Cantrell, limb anomalies and ventral body wall defects could make it lethal and incompatible with survival. 13,14 Aneuploidy is seen in about 2% of cases. ...
Acrania–exencephaly–anencephaly sequence has an incidence of 3.6–5.4 for 10,000 live births and has been reported in literature. Exencephaly, described here is a defect of the neural tube which occurs due to the absence of closure of the neural fold. The main diagnostic ultrasound features include that are characterized by acrania, decreased size of cranial pole in comparison with the chest, irregular cranial surface, with increased amniotic fluid echogenicity due to the damaged brain tissue. Associated with amniotic band syndrome, Pentalogy of Cantrell, limb anomalies and ventral body wall defects. It is incompatible with life. Conducting programs training the budding neuro-sonographers about the knowledge in detection, diagnosis of NTD according to the Carnegie Classification is crucial to look forward in pathogenesis and application in the clinical scenario.
... It may result from two mechanisms: (i) a disruption by amniotic bands; and (ii) failure of migration of the ectodermal mesenchyme. [3] Acrania is considered lethal because it can be a precursor of anencephaly, in what is known as the acrania-anencephaly sequence. The exposed brain is subjected to both mechanical and chemical insults: mechanical from the walls of the uterus, and chemical from liquor, thereby inducing anencephaly. ...
Acrania is a rare, life-threatening congenital anomaly in which the flat bones in the cranial vault are either completely or partially absent, with complete but abnormal development of the cerebral hemispheres. In severe cases, surgical intervention is required for improved outcome. We present a 31-week gestational age, 1.6 kg female preterm neonate with acrania and no other associated congenital anomaly. On the eighth day of life, a scalp transpositional flap based on the superficial temporal and posterior auricular arteries was raised to cover the primary defect, and a split thickness skin graft was used to resurface the secondary defect. The patient did well postoperatively and was discharged to be monitored in the clinic. Early detection and multimodal specialist care is imperative for necessary intervention to prevent untoward complications.
... Despite the fact that the amniotic band syndrome (ABS) is classified as a differential diagnosis of acrania, especially when the constriction band is located in the skull area [17], there are studies in the literature with the association of both [1,6,17,60], as in our case report. This anomaly also known as congenital constriction band presents as an uncommon pathology, with occasional occurrence in nature and without genetic predisposition [25]. ...
We described a cranial vault defect associated with amniotic band syndrome of a post-bariatric pregnancy. Obstetric ultrasonography with gestational age of 14 weeks and six days showed fetal acrania and at 21 weeks, revealed also a tortuosity of right radius and ulna. Case report: newborn, vaginal delivery, preterm (35 weeks and three days of gestation), Apgar 6/6, presented at birth a diagnosis of acrania and amniotic
constriction band in the left upper limb without radial pulse in this limb. Transferred after birth to a Neonatal ICU, she died after 9 days. This rare lethal anomaly has important implications for obstetric management and counseling. Although there is no consensus in the literature regarding the risks of gestations after malabsorption procedures, gestations after bariatric surgery should be accompanied with extreme care aiming at an adequate nutritional intervention at risk of affecting the intrauterine environment and the developing fetus.
... Acalvaria is an extremely rare congenital malformation in the pediatric age group that is often affected by ABS [5,[14][15][16] . Acalvaria was observed in all of the patients included in our study. ...
Amniotic band syndrome is a group of sporadic congenital anomalies that involve the limbs, craniofacial regions and trunk, ranging from simple digital band constriction to complex craniofacial and central nervous system abnormalities. Placento-cranial adhesions in amniotic band syndrome are extremely rare, and severe conditions are associated with high morbidity and mortality rates. In this study, we pooled placento-cranial adhesion case reports that were published in the medical literature and added an unpublished case from our institution. The purpose of this article was to review and discuss the clinical features and outcomes of placento-cranial adhesions in amniotic band syndrome. © 2015 S. Karger AG, Basel.
Acrania–exencephaly–anencephaly sequence is rare forms of neural tube defects. The progression is from a relatively normal-appearing exposed brain due to an absent cranium called as acrania, to an amorphous brain mass term as exencephaly. We present a case of 20 years female, nonconsaguinous marriage, G1P0A0 having amenorrhea since 3 months. On ultrasonography, a single fetus of gestational age of about 15 weeks gestation showed congenital malformation- acrania with exencephaly. Final impression on fetal autopsy given was acrania–exencephaly with deformed brain, ill-formed cervical C1, 2 spine, bilateral pulmonary immaturity- Grade II with pulmonary congestion and hemorrhage. We are presenting this rare fetal anomaly of acrania–exencephaly–anenecephaly sequence for its clinical, radio imaging, and fetal autopsy findings.
This report discusses the syndrome of amnionic bands, anencephaly, schizencephaly and hydranencephaly, four entities whose pathogenesis includes significant injury to the fetus in utero.
A case of amniotic band syndrome (ABS) presenting with acalvaria is reported. ABS includes a spectrum of non-genetic anomalies, varying from simple digital band constriction to major craniofacial and visceral defects, and even fetal death. Acalvaria is a rare congenital malformation characterised by the absence of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones and dura mater, in the presence of a normal skull base and facial bones with complete cranial contents. No two cases are the same. Acrania or absence of the flat skull bones with disorganised cerebral hemispheres have been reported in the presence of amniotic bands. ABS is an aetiological factor in acalvaria. Appropriate counselling for affected families needs to be given after prenatal diagnosis.
Hintergrund und Fragestellung Die Exenzephalie ist eine seltene fetale Missbildung, unklarer Genese, die durch abnorme Entwicklung des Schädeldaches, bei unauffälligem Gesichtsschädel, charakterisiert ist.
Material und Methodik Fallbericht einer 4. Gravida, Zustand nach 2 Geburten mit Exenzephalie, erstmals in der 12. SSW an unserer Abteilung vorstellig.
Ergebnis Durch die transvaginale Sonographie konnte bereits in der 12. Schwangerschaftswoche die Diagnose einer Exenzephalie gestellt werden. Bei der Hysteroskopie wurde festgestellt, dass das Gehirn nur von einer dünnen Membran bedeckt war, der Gesichtsschädel war unauffällig, die Kopfform normal.
Schlussfolgerung Durch die zusätzlich durchgeführte Hysteroskopie konnte die Diagnose bestätigt und zusätzliche Missbildungen, wie eine kleine Omphalozele, Hexadaktylie und Klumpfüße bds., entdeckt werden.
Diskussion Mit Hilfe der endoskopischen Bilder in dieser frühen Schwangerschaftswoche kann gezeigt werden, dass die Exenzephalie eine eigenständige Fehlentwicklung ist und keine Vorstufe einer Anenzephalie, wie von manchen Autoren behauptet wird. Die Hysteroskopie scheint auch deswegen vorteilhaft, weil nach der Schwangerschaftsunterbrechung der Fetus nicht mehr unversehrt untersucht werden kann.
Background Acrania is a rare congenital anomaly of unknown pathogenesis, in which the flat bones of the cranial vault are absent and the facial bones are normally present.
Materials and Methods We present a case of a 4th gravida, who had already born 2 children with acrania and came for an ultrasound examination in the 12th week of gestation.
Results By transvaginal ultrasonography it was possible to diagnose fetal acrania already in the 12th week. By hysteroscopy at the same time we could see, that the brain was covered by a thin membrane, the facial bone and the shape of the cranium were normal.
Conclusions By hysteroscopy it was possible to confirm the diagnosis and to detect additional malformations. This fetus showed a small omphalocele, hexadactylism on both sides and clubfeet on both sides.
Discussion By hysteroscopy in this early week of pregnancy we could demonstrate, that acrania is an independent anomaly and not the first stage of an anencephaly as reported by other authors. Hysteroskopy also offers the advantage of viewing the intact fetus before pregnancy termination.
A 10-year-old male with acrania, distal limb anomalies, and abnormal arterial and venous cranial blood vessels is reported. Parental films and examination are normal. This case supports the hypothesis that acrania is a severe form of aplasia cutis congenita and is within the spectrum of Adams-Oliver syndrome. It is proposed that the diagnosis of acrania requires assessment of both parents and proband to assess other manifestations of vascular disruption in order to provide accurate genetic counselling.
Acrania is a developmental anomaly characterized by partial or complete absence of the cranium with complete but abnormal development of brain tissue. It is the product of an ectodermal and mesodermal aberration and occurs after neural tube closure. Thus, acrania differs from anencephaly, which results from a neural tube defect and is characterized by absence or near absence of the cerebral hemispheres and, consequently, the overlying calvaria. Despite an extensive search, we have found no report of the sonographic demonstration of fetal acrania.
The amniotic band syndrome is a collection of fetal malformations associated with fibrous bands that appear to entangle or entrap various fetal parts in utero, leading to deformation, malformation, or disruption. This syndrome is given many names yet follows a clearly defined clinical pattern. Misdiagnosis and inappropriate family counseling are chronic features. This article reviews the clinical features of the amniotic band syndrome, its epidemiology, and the status of prenatal and neonatal diagnosis. The spectrum of malformations associated with amniotic bands is summarized and illustrated. Major etiologic theories are examined. It is recommended that the clinician involved in the delivery of any infant manifesting elements of this unusual combination of defects seek specialized consultation in the pursuit of an accurate and precise diagnosis and appropriate genetic counseling.
We report on a girl born with phocomelia of both lower limbs, with 3-toed feet and partial sacral agenesis. She had normal growth of the upper limbs and trunk, and normal intelligence. Ultrasound study performed during the subsequent pregnancy documented a large skull defect with an intact brain. Fetal autopsy following the termination of that pregnancy was not done. We think this is a further report of the phocomelia syndrome with additional anomalies as reported by Schinzel [Hum Genet 84:539-541, 1990].
A case of acrania associated with medulloblastoma, agenesis of the cerebellum, and nasoshizis, is reported. The diagnosis of acrania was made at the 20th gestational week by sonographic examination. To our knowledge, this is the first report of fetal acrania associated with congenital brain tumor.
Abnormal placental penetration through the myometrium with bladder invasion is a rare obstetric complication with potential for massive blood loss. Urologists are usually consulted after a life threatening emergency has already arisen. Their familiarity with this condition is crucial for effective management. We describe 2 cases of placenta percreta with bladder invasion to highlight the catastrophic nature of this clinical entity, and review the literature on current diagnostic and management strategies.
Between 1986 and 1998, 250 cases of adherent placenta (0.9%) were identified in 25,254 births at our institution, including 2 (0.008%) of placenta percreta with bladder invasion. We treated these 2 multiparous women who were 33 and 30 years old, respectively. Each had undergone 2 previous cesarean sections.
Presenting symptoms were severe hematuria in 1 patient and prepartum hemorrhage with shock in the other. Ultrasound showed complete placenta previa in each with evidence of bladder invasion in 1 patient. Hysterectomy, bladder wall resection and repair, and bilateral internal iliac artery ligation were required to control massive intraoperative hemorrhage. The patients received 22 and 15 units of packed red blood cells, respectively. Fetal death occurred in each case. Convalescence was complicated by disseminated intravascular coagulation in patient 1 but subsequent recovery was uneventful.
A high index of suspicion for placenta percreta with bladder invasion is required when evaluating pregnant women with a history of cesarean delivery and placenta previa who present with hematuria and lower urinary tract symptoms. Ultrasonography and magnetic resonance imaging may assist in establishing the diagnosis preoperatively. With proper planning and a multidisciplinary approach fetal and maternal morbidity and mortality may be decreased.
Acrania is a rare congenital anomaly of unknown pathogenesis, in which the flat bones of the cranial vault are absent and the facial bones are normally present.
We present a case of a 4th gravida, who had already born 2 children with acrania and came for an ultrasound examination in the 12th week of gestation.
By transvaginal ultrasonography it was possible to diagnose fetal acrania already in the 12th week. By hysteroscopy at the same time we could see, that the brain was covered by a thin membrane, the facial bone and the shape of the cranium were normal.
By hysteroscopy it was possible to confirm the diagnosis and to detect additional malformations. This fetus showed a small omphalocele, hexadactylism on both sides and clubfeet on both sides.
By hysteroscopy in this early week of pregnancy we could demonstrate, that acrania is an independent anomaly and not the first stage of an anencephaly as reported by other authors. Hysteroscopy also offers the advantage of viewing the intact fetus before pregnancy termination.
The amniotic band syndrome is a collection of fetal malformations associated with fibrous bands that appear to entrap or entangle various fetal parts in utero and can affect any organ or system and cause a single or multiple anomalies. The anomaly, acrania, is characterized by partial or complete absence of the calvarium with abnormal brain tissue development. Literature reports association of amniotic band syndrome and acrania postnatally, but not diagnosed prenatally by ultrasound.
A young woman, gravida 1, para 0, presented for an initial prenatal visit at 35 weeks' gestation and had a first ultrasound that showed a single intrauterine pregnancy at 36 weeks' gestation. This ultrasound also showed polyhydramnios, absence of or a very small cerebrum with either anencephaly or acrania. A targeted ultrasound scan was performed on the following day, which confirmed acrania in view of the fact that we did see an absence of the flat bones of the skull with a substantial amount of abnormal brain tissue present surrounded by a fetal membrane. The patient was counseled, and labor induction was scheduled with a male infant delivered weighing 1763 g after a spontaneous vaginal delivery. The infant was diagnosed with acrania, given supportive care, and died 11 hours later.
Diagnosis of cranial bone defects can be established by ultrasound in the first trimester of pregnancy. The prenatal diagnosis of acrania associated with amniotic bands by transvaginal ultrasound was visualized in the third trimester in this case; therefore, appropriate counseling and treatment options were offered.
Placenta previa percreta with the urinary bladder invasion is a rare but potentially lethal condition. It has an increasing clinical significance due to its association with previous cesarean sections and uterine curettage. Herein, we report on a patient with placenta percreta and bladder invasion, who presented with hematuria and in whom delivery was delayed to almost full term highlighting the potential catastrophic results and the need for a multidisciplinary approach with the need to involve surgeons who are familiar with vascular and urologic surgery. We also present an elegant MRI of placenta percreta invading the urinary bladder, which shows that MRI is potentially an excellent diagnostic modality in this difficult condition.
A 37-year-old woman was admitted due to vaginal bleeding at 25 weeks of gestation to our gynecology unit. Placenta percreta, which stems from posterior wall of the uterus, forming a mass in Douglas cavity and invading towards right parametrium was clinically diagnosed by exploration. Bilateral internal iliac artery ligation and supracervical hysterectomy could not prevent bleeding. A right radical parametrectomy was necessary to remove invaded parametrium and to control bleeding. The placenta percreta invading parametrium may need an extended hysterectomy procedure. Excess bleeding may be prevented by leaving the placenta in situ during surgery if the placenta percreta is diagnosed before termination of pregnancy, A classical incision may help leaving placenta is situ during operation.
First-trimester diagnosis of placenta previa percreta by magnetic resonanc imaging
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Th orp JM, Wells SR, Wiest HH et al. 1997. First-trimester diagnosis of placenta previa percreta by magnetic resonanc imaging. American Journal of Obstet-rics and Gynecology 178:616 – 618.