Diagnosis Of Sirenomelia Research Articles

Випадок сиреномелії в однієї дитини із двійні

Sirenomelia is extremely rare congenital malformation that characterized by the complete or incomplete fusion of the low extremities and associated by the various organs’ disorders, such as urinary system, which determined the poor outcome in these infants that died during antenatal or early neonatal period. Prenatal ultrasonography, especially during first-second trimester, permits to establish the presence of sirenomelia. Due to the rarity of this malformation, the own observation of first case of sirenomelia in one infant from twins is presented, which borne in Ukraine. Diagnosis of sirenomelia was established at the planned ultrasonographic screening of multigravida mother. After the birth, neonate with sirenomelia was transferred at the intensive care unit of Lviv regional children’s clinical hospital «OXMATDYT». At the first examination, the throughout fusion of lower extremities, the absent of one kidney, bladder, and external genitalia was revealed. With increasing signs of renal and respiratory failure baby died at 9 days after birth. Conclusions. Sirenomelia is extremely rare congenital malformation that associated with the high mortality during early neonatal period due to the presence of underlying congenital malformations, such as urinary system. Ultrasonography during the prenatal period is the screening methods for the diagnosis of this malformation. No conflict of interest was declared by the authors. Key words: sirenomelia, diagnostic, twins.

First Trimester Diagnosis of Sirenomelia: A Case Report

AbstractSirenomelia or the mermaid syndrome is a rare and lethal congenital anomaly. It is characterized by fusion of lower extremities. It is associated with bilateral renal agenesis, anomalies of rectum, sacrum, cardiovascular system and abdominal wall. Pathognomic finding is a single umbilical artery, the ‘persistent vitelline artery’ which distinguishes sirenomelia from caudal regression syndrome. Sirenomelia has strong association with maternal diabetes mellitus. We report a case of sirenomelia diagnosed in first trimester. Early diagnosis was possible as protocol-based anatomic evaluation was performed. Diagnosis of sirenomelia is easier in first trimester as severe oligohydramnios in later gestation hampers the fetal evaluation.

OP02.05: First trimester diagnosis of Sirenomelia

Sirenomelia or Mermaid Syndrome is a rare lethal congenital anomaly with an incidence of 1 in 60000.We report a case diagnosed in first trimester using 2D US and colour Doppler. Omphalocele is seen in this case. This case emphasises the importance of looking for anomalies in first trimester. Diagnosis of Sirenomelia should be easier in first trimester as liquor is in good amount. A 25 years old G2P1 with previous LSCS with unremarkable medical and family history underwent sonography at 12 weeks. The live singleton fetus had single lower limb, omphalocele with herniation of liver and stomach. Lower limb showed two femur, single bone in mid segment and a single bifurcated foot. There was fixed extension and mobility at hip and knee was restricted. CD showed single umbilical artery and reversal of A wave in DV. Upper limb and spine were normal. After counselling about poor prognosis, patient lost to follow-up. The US diagnosis of sirinomelia is based on fusion of lower limbs and associated skeletal, spinal, renal, cardiac and abdominal wall anomalies. Single UA is seen in majority cases. Vascular steal and defective blastogenesis are two proposed theories of etiopathogenesis. Strong correlation is seen with diabetes. Male fetus are more affected. Early diagnosis in first trimester is easy due to good amount of amniotic fluid. In later gestation due to renal agenesis/dysgenesis there is severe oligohydramnios and diagnosis is relatively difficult. Also early diagnosis minimises trauma related to termination in later gestation. Supporting information can be found in the online version of this abstract Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Prenatal diagnosis of sirenomelia in the second trimester of pregnancy using two-dimensional ultrasound, three-dimensional ultrasound and magnetic resonance imaging.

.The case reported here represents the rarest form of congeni-tal carpal boss, in which the os styloideum is fused to the trap-ezoid, which occurs in only 0.5% of cases. More commonly (in94.0% of cases), it is fused to the base of the second and thirdmetacarpal, merged with the capitate (in 3.5%) or (in 2.0%) iso-lated

Diagnóstico ecográfico prenatal de sirenomelia: a propósito de un caso

Diagnóstico ecográfico prenatal de sirenomelia: a propósito de un caso

Sirenomelia: A case report

Introduction: Sirenomelia is a congenital structural anomaly characterized by abnormal development of the caudal region of the body with varying degrees of fusion of lower limbs. Most of the times, the condition is fatal for the baby. Most babies do not survive even after surgery. Fifty percent of cases are seen as stillbirths, and it is much more common in identical twins. This abnormality was initially confused with caudal regression syndrome, but later was given a new name, i.e., sirenomelia mermaid syndrome. Case Report: We present a case of a 15-year-old boy with partially fused lower limbs. A provisional diagnosis of sirenomelia is made and detailed review and surgery was planned. The boy did not report for further treatment. Conclusion: Very rare disorder with prevalence of 1 in 100,000 live births with a total of 300 cases reported till today in which nine are from India. The precise etiology of sirenomelia was not well understood. Many theories have been proposed but none of these is considered definitive. It is very important to diagnose this condition by ultrasonography so that termination of pregnancy can be carried out.

Diagnosis of sirenomelia in the first trimester

Sirenomelia or "mermaid syndrome" is a rare congenital abnormality with an incidence of 1 in 60,000. We report a case diagnosed in the first trimester using two-dimensional, three-dimensional, and color Doppler ultrasound. With increasing emphasis on early diagnosis of fetal abnormalities, this case highlights the importance of looking for anomalies in the first trimester itself. In fact, the diagnosis of sirenomelia should be easier in the first trimester as severe oligohydramnios in later gestation hampers vision.

Severe Sirenomelia following frozen-thawed embryo transfer cycle

Sirenomelia is a rare congenital syndrome caused by anomalous development of the caudal region of the fetal body, resulting in a single limb or fused lower limbs [1]. Other anomalies associated with Sirenomelia include a single umbilical artery, bilateral renal agenesis or dysgenesis, absent bladder, absent rectum, imperforate anus, and absent external genitalia, lumbosacral and pelvic malformations, sacral agenesis, malformed vertebrae and hemivertebrae, and corresponding anomalies of the central nervous system [2]. We present a 37-year-old female who was referred for routine antenatal follow-up care after conceiving via a frozen-thawed embryo transfer cycle. She reported an 8-year period of infertility, including three unsuccessful cycles of in vitro fertilization. She had no past medical or surgical history. On a follow-up ultrasound at 11 weeks, a fetal cystic hygroma and absence of one lower extremity were noted. FISH results of chorionic villus sampling confirmed that chromosomes 13, 18, and 21 were normal, as were the sex chromosomes. Following termination of the pregnancy at 13 weeks, external examination of the fetus revealed a single, severely hypoplastic lower extremity engaged posteriorly and cranially (Fig. 1). The external genitalia were not apparent. Multiple anomalies were reported on computed tomographic scan and pathologic examination: a single umbilical artery, renal agenesis, absence of the ureters and bladder, bilateral hypoplasia of the renal arteries; anorectal atresia, and a blind-ending ileum. This combination of findings confirmed the diagnosis of Sirenomelia. Many theories have been proposed as a means of explaining Sirenomelia. At present, there are two acceptable hypotheses: the defective blastogenesis hypothesis and the vascular steal hypothesis [3]. According to the defective blastogenesis hypothesis, Sirenomelia is a primary defect of blastogenesis that occurs during the final stages of gastrulation at the tailbud stage, in conjunction with the primary embryonic process [4]. The phenotypic variability depends on the intensity, the time of initiation, and the duration of the underlying event (days 1-28) [4]. The defects of the primary embryonic period lead to failure of axis formation, mid-line, primitive node and streak, gastrulation, segmentation of the paraxial mesoderm, and defects in the determination of laterality [5]. Although frozen-thawed embryo transfers have not been associated with an increased risk of congenital abnormalities [6], the possibility exists that this anomaly may have been caused by defective blastogenesis due to the stress exerted during freezing and thawing of the embryo. According to the vascular steal hypothesis, a single umbilical artery emerging from the fetal abdominal aorta immediately below the celiac branch leads to insufficient blood supply, resulting in deficient development of the caudal mesoderm, kidneys, large intestine and genitalia [7]. S. Bodur (&) Department of Obstetrics and Gynecology, Maresal Cakmak Military Hospital, Erzurum 25070, Turkey e-mail: serkan_bodur@yahoo.com; bodurs@mail.magee.edu

Sirenomelia sequence: early prenatal diagnosis of one rare case associated with acardiac malformation

Sirenomelia sequence is a very rare congenital malformation, with incidence of around 1.5-4.2 per 100,000 births. Prenatal diagnosis of sirenomelia in the first trimester is rare; there are only five cases reported for the present, and the association of sirenomelia with acardiac malformation is even rarer. We present a rare case of sirenomelia associated with acardiac malformation detected in the first trimester through combined two-dimensional, three-dimensional and color Doppler sonographies.

P02.75: First‐trimester diagnosis of sirenomelia

We present a case of sirenomelia diagnosed on a first-trimester ultrasound at 10 weeks' gestation and confirmed on 3D-ultrasound and MRI. The pregnancy was terminated at 15 gestational weeks and the post-mortem examination, including RX and microscopy is presented. The sirenomelia sequence is a rare and lethal anomaly characterized by fusion, rotation, hypotrophy or atrophy of the lower limbs and severe urogenital abnormalities leading to oligohydramnios in the second half of pregnancy. Our case illustrates that the diagnosis of sirenomelia can be reliably made in the first trimester.

High-Resolution Sonographic Diagnosis of Sirenomelia

Sirenomelia sequence is a rare lethal pattern of congenital anomalies characterized by a number of hallmark skeletal anomalies, including fusion of the lower extremities or a single lower limb, bilateral renal agenesis or dysgenesis with absent or hypoplastic renal arteries, oligohydramnios, and the presence of aberrant vasculature. 1 The characteristic feature of sirenomelia consists of the varying degree of fusion of the lower limbs. Two separate systems of classification of sirenomelia have been proposed, based on the number of feet or the pattern of fused bones. 1 Prenatal diagnosis of this condition can be accomplished by sonography and relies on the inability to show separate lower limbs or the identification of a single femur. 2-4 However, a confident diagnosis is usually difficult during the second trimester because of the severe oligohydramnios associated with the condition, which hampers a proper evaluation of fetal lower extremities. This can be overcome by amnioinfusion, but it is an invasive method. Alternatively, magnetic resonance imaging can be used because it is less hampered by oligohydramnios, but it is not easily available. Recently, color Doppler sonography has been reported to be useful in the diagnosis. It reveals the origin of the aberrant vitelline artery that continues as the single umbilical artery The distal aorta may be atretic or hypoplastic. The iliac and femoral arteries may not be seen.1 However, this method also faces difficulty if the femoral arteries are visualized. Here we report the use of high-resolution sonography as an easy and simple technique for the diagnosis of the sirenomelia in the presence of oligohydramnios. The patient was a 22-year-old primigravida in her 30th week of gestation. Sonography revealed a gestation of 29 weeks with anhydramnios. The fetus showed features of bilateral renal agenesis and a single umbilical artery, which suggested the possibility of sirenomelia sequence.