Articles

Articles are a collaborative effort to provide a single canonical page on all topics relevant to the practice of radiology. As such, articles are written and edited by countless contributing members over a period of time. A global group of dedicated editors oversee accuracy, consulting with expert advisers, and constantly reviewing additions.

785 results found
Article

Clinodactyly

Clinodactyly is a descriptive term that refers to a radial angulation at an interphalangeal joint in the radio-ulnar or palmar planes. It typically affects the fifth finger. Epidemiology  The estimated incidence is highly variable dependent on sampling and has been reported to range between 1-...
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Placental lake

Placental (venous) lakes refer to a phenomenon of formation of hypoechoic cystic spaces centrally within the placenta. Finding placental lakes during a second trimester ultrasound scan is not associated with any uteroplacental complication or with an adverse pregnancy outcome. They can, however,...
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Bilobed placenta

A bilobed placenta also referred to as bipartite placenta, is a variation in placental morphology and refers to a placenta separated into two near equal-sized lobes. If more than two lobes are present, it is termed a trilobed, four-lobed, and so on. If the second lobe is smaller than the main lo...
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Fryns syndrome

Fryns syndrome (FS) is a rare congenital disorder which can have significant phenotypic variability but is primarily characterized by cranio-facial anomalies, diarphagmatic defects and distal limb anomalies. Epidemiology Incidence is estimated at 1:15,000 live births. Clinical presentation T...
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Congenital rubella syndrome

Congenital rubella syndrome is a spectrum of congenital abnormalities that result from primary maternal infection with the rubella virus. It falls under the TORCH group of infections. It is important to note that reinfection/reactivation of maternal infection has a significantly lower risk of f...
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Fetal warfarin syndrome

Fetal warfarin syndrome (FWS) is a rare condition which can occur as a result of fetal exposure to maternal ingestion of warfarin during pregnancy. Clinical presentation Reported clinical features include: facial anomalies nasal bone hypoplasia nasal bridge depression skeletal anomalies s...
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Meconium pseudocyst

Meconium pseudocyst formation is a complication that can occur with meconium peritonitis. Pathology It occurs when the extruded meconium becomes walled off within the peritoneal space. Radiographic features Plain radiograph May be seen as a rim calcified mass within the abdomen. Antenatal ...
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Fetal pericardial effusion

Fetal pericardial effusions occur when there is an accumulation of pericardial fluid in utero. In order to be considered abnormal, it is generally accepted that the pericardial fluid thickness should be >2 mm ref. Epidemiology The estimated incidence is at ~ 2% of pregnancies 8. Pathology As...
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Fetal intrahepatic calcification

Fetal intrahepatic calcification can be a relatively common finding. Calcifications in the liver can be single or multiple and in most cases in which isolated hepatic calcific deposits are detected, there is usually no underlying abnormality. The presence of isolated intrahepatic calcification ...
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Fetal ventriculomegaly

Fetal ventriculomegaly refers to the presence of dilated cerebral ventricles in utero. Important in itself, it is also associated with other CNS anomalies. Epidemiology Using the current sonographic cut-off criteria (see radiographic features below), the estimated prevalence may be at ~0.9% o...
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Sirenomelia

Sirenomelia (also known as the mermaid syndrome) is a rare congenital malformation characterized by the fusion of lower limb structures. Epidemiology The estimated incidence is at ~1 in 60,000-70,000 of pregnancies 9. There may be greater male predilection (somewhat paradoxical given the usage...
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Megacystis microcolon intestinal hypoperistalsis syndrome

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) (also known as the Berdon syndrome) is a rare congenital disorder characterized by a dilated non-obstructive urinary bladder and hypoperistalsis of the gastrointestinal tract. Epidemiology There is recognized strong female predi...
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Fetal megacystis

Fetal megacystis refers to the presence of an unusually large urinary bladder in a fetus.  Epidemiology The estimated incidence of antenatal imaging is at ~1:1500 pregnancies. Associations Associated anomalies are common 6 and include: posterior urethral valves chromosomal anomalies on a ...
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Spina bifida

Spina bifida is a type of neural tube defect/spinal dysraphism which can occur to varying degrees of severity. It is often considered the most common congenital CNS malformation. Terminology Spina bifida in its strictest sense means defective fusion of the vertebral posterior elements, leading...
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Fetal ascites

Fetal ascites refers to the accumulation of free fluid in the fetal abdomen. It is often considered under the same spectrum of hydrops fetalis. Pathology Etiology any condition that results in hydrops fetalis additional causes include idiopathic bowel perforation (e.g. meconium peritonitis...
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Fetal pyelectasis

Fetal pyelectasis refers to the prominence of the renal pelvis in utero that is a relatively common finding, which in the majority of cases resolves spontaneously.  Please refer to the article on fetal hydronephrosis for a continued discussion on this matter.  Terminology  Although there is a...
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Triploidy

Triploidy is a rare lethal chromosomal (aneuploidic) abnormality caused by the presence of an entire extra chromosomal set. Epidemiology It is considered the 3rd commonest fatal chromosomal anomaly 7. While it is thought to affect as much as 1-2% of conceptions, the vast majority are thought t...
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Chorioamniotic separation

Chorioamniotic separation is an intrauterine event that can occur in pregnancy and is characterized by separation of the placental (chorion) and fetal (amnion) membranes. Epidemiology Associations increased rates of underlying fetal chromosomal and developmental abnormalities have been associ...
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Fraser syndrome

Fraser syndrome is an extremely rare congenital syndromic anomaly.  Epidemiology The estimated incidence is at around 0.04:10,000 live-born infants and 1:10,000 stillbirths. Clinical spectrum The syndromic spectrum can comprise of: cryptophthalmos syndactyly: often cutaneous tracheal atre...
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Tracheal atresia

Tracheal atresia is an extremely rare anomaly and refers to a congenital absence of the trachea. Epidemiology There may be a greater male predilection 5. Associations  Associated anomalies can be present in up to 90% of cases 5: congenital high airways obstruction syndrome (CHAOS): some aut...
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Pulmonary hypoplasia

Pulmonary hypoplasia refers to deficient or incomplete development of parts of the lung. It can develop as a result of a number of other in utero anomalies. Epidemiology Pulmonary hypoplasia has been reported to affect 1.4% of all births 13 however the true prevalence is not well known. In cas...
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Fetal bradycardia

Fetal bradycardia refers to an abnormally low fetal heart rate, a potentially ominous finding. A sustained first trimester heart rate below 100 beats per minute (bpm) is generally considered bradycardic. The average fetal heart rate changes during pregnancy, however, and some consider the lower ...
Article

Mesoblastic nephroma

Mesoblastic nephroma, also sometimes known as a congenital mesoblastic nephroma (CMN), Boland's tumor or fetal renal hamartoma, is generally a benign renal tumor that typically occurs in utero or in infancy. Epidemiology It is the most common neonatal renal tumor. Diagnosis is usually made in ...
Article

Heterotopic pregnancy

Heterotopic pregnancy is a rare situation when there is an intra-uterine and extra-uterine (i.e. ectopic) pregnancy occurring simultaneously. Epidemiology The estimated incidence in the general population is estimated at 1:30,000 (for a naturally conceived pregnancy 7). The incidence among pat...
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Stenosis of the uterine cervix

Stenosis of the uterine cervix is the pathologic narrowing of the uterine cervix. The term cervical stenosis is clinically defined as cervical narrowing that prevents the insertion of a 2.5 mm wide dilator through the cervical os. Epidemiology One-fifth of patients have a history of exposure t...
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Cervical stenosis (disambiguation)

The term cervical stenosis can refer to: stenosis of the uterine cervix bony cervical canal stenosis (cervical spinal stenosis)
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Coffin-Lowry syndrome

Coffin-Lowry syndrome (CLS) is a rare X-linked genetic syndrome affecting multiple body parts. Epidemiology The condition tends to affect males much more due to its X-linked inheritance. The estimated incidence is at around 1:40,000-50,000. Clinical presentation It is characterized by a numb...
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Antenatal screening

Antenatal screening and diagnosis are currently available for a few selected genetic conditions, including trisomy 21 (Down syndrome), trisomy 18 (Edward syndrome), trisomy 13 (Patau syndrome) and neural tube defects. For an overview of the conditions and their manifestations, please refer to t...
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Large for dates uterus

A large for date uterus is a clinical observation based on uterine fundal height, which may result in referral for ultrasound assessment, usually in mid to late pregnancy. Pathology Etiology incorrect dates constitutionally large fetus multiple pregnancy fetal macrosomia polyhydramnios u...
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Differential diagnosis for PV bleeding in pregnancy

Per vaginal (PV) bleeding during pregnancy is a common clinical presentation that often necessitates obstetric ultrasound for the assessment of the hemorrhage, and of fetal well being. The potential causes vary with the stage of gestation. Bleeding in the first trimester miscarriage threaten...
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Proboscis

Proboscis is a rare congenital anomaly where an anterior appendage-like structure is seen projecting from the midline fetal face/forehead. Depending on the exact location, this has further been classified into various subtypes (e.g. interorbital proboscis). Pathology Associations The presence...
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Achondrogenesis

Achondrogenesis refers to a group of rare and extreme skeletal dysplasias. Epidemiology The estimated incidence is 1:40,000, with no recognized gender predilection. Pathology It is classified as an osteochondrodysplasia, meaning deficiency of both bone and cartilage development. The conditio...
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Maternal hydronephrosis in pregnancy

Maternal hydronephrosis in pregnancy often results as a physiological phenomenon due to the presence of the fetus.  Epidemiology It is estimated that up to 90% of women have some degree of asymptomatic dilatation of the renal calyces, the renal pelves and the upper two-thirds of the ureters du...
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Perigestational hemorrhage

Perigestational hemorrhage refers to hemorrhage that occurs around the fetus during the gestational period. The spectrum of hemorrhage includes: chorionic hemorrhage: caused by the separation of the chorion from the endometrium  subchorionic hemorrhage: most common type, occurs between the cho...
Article

Subchorionic hemorrhage

Subchorionic hemorrhage occurs when there is perigestational hemorrhage and blood collects between the uterine wall and the chorionic membrane in pregnancy. It is a frequent cause of first and second trimester bleeding. Epidemiology It typically occurs within the first 20 weeks of gestation. W...
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Cloacal exstrophy

Cloacal exstrophy (CE) is an extensive congenital abdominal wall defect which encompasses: exstrophy of the bladder omphalocele lower abdominal wall defect Epidemiology The estimated prevalence is at around 1 in 50,000 to 200,000 live births. There is a recognized male predilection with a M...
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Fetal tachyarrhythmia

Fetal tachyarrhythmia refers to an irregular increase in fetal heart rate.  Epidemiology Depending on its exact definition, the prevalence rate is thought to be around 0.5-1% of pregnancies.  Associations associated congenital cardiac anomalies can occur but are relatively rare ( ~7% 7) Cli...
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Fetal tachycardia

Fetal tachycardia is an abnormal increase in the fetal heart rate. It is variably defined as a heart rate above 160-180 beats per minute (bpm) and typically ranges between 170-220 bpm (higher rates can occur with tachyarrhythmias). Epidemiology The estimated prevalence is ~0.4-1% of pregnancie...
Article

Rocker bottom foot

A rocker bottom foot (also known as a congenital vertical talus) is a congenital anomaly of the foot. It is characterized by a prominent calcaneus/heel and a convexly rounded sole. Pathology It results from a dorsal and lateral dislocation of the talonavicular joint. Associations aneuploidic...
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Hypotelorism

Hypotelorism refers to an abnormal decrease in distance between any two organs although some authors use the term synonymously with orbital hypotelorism meaning an abnormal decrease in the distance between the two eyes (the eyes appear too close together). The article mainly focuses on the latte...
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Hypertelorism

Hypertelorism refers to an abnormal increase in distance between any two organs although some authors use the term synonymously with orbital hypertelorism meaning an abnormal increase in distance between the two eyes. The article mainly focuses on the latter. The abnormality is similar to teleca...
Article

Fetal goiter

A fetal goiter is an enlargement of the thyroid gland in utero. It can occur with either hyper- or hypothyroidism (and in isolated cases of euthyroidism 8). Pathology The mechanism depends on whether the underlying cause is hyper- or hypothyroidism.  Associations maternal Graves disease with...
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Umbilical cord cyst

Umbilical cord cysts can refer to any cystic lesion associated with the umbilical cord. They can be single (more common) or multiple. Epidemiology They may be seen in ~3% of pregnancies in the first trimester 8. Associations There are associations (especially when there are additional sonogr...
Article

Carpenter syndrome

Carpenter syndrome, also called acrocephalopolysyndactyly type II (ACPS type II) is an extremely rare autosomal recessive congenital disorder. Clinical spectrum It is characterized by a number of features which include: craniofacial malformations craniosynostoses kleeblattschädel (cloverlea...
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Sandal gap deformity

A sandal gap deformity, also known as hallux varus, is an imaging observation in antenatal ultrasound (typically second trimester) where there is an expanded first interspace, i.e. the gap between the great toe of the foot from the rest of the toes (likened to the gap caused by a sandal).  Whil...
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Antenatal soft markers on ultrasound

Antenatal soft ultrasound markers are fetal sonographic findings that are generally not abnormalities as such but are indicative of an increased age-adjusted risk of an underlying fetal aneuploidic or certain non-chromosomal abnormalities. Most of the described features do not constitute a stru...
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Fetal clenched hands

Fetal clenched hands are an antenatal ultrasound observation where the fetal hands are in a constant (permanently) clenched position as if being unable to extend. Epidemiology Associations Several syndromic conditions are associated with this observation including: aneuploidic Edwards syndr...
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Theca lutein cyst

Theca lutein cysts, also known as hyperreactio luteinalis, are a type of functional ovarian cyst. They are typically multiple and seen bilaterally. Epidemiology Associations They have a very high association with gestational trophoblastic disease. Other reported associations include: multif...
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Placental site trophoblastic tumor

Placental site trophoblastic tumors (PSTT) are rare and one of the least common (~0.2% 7) forms of gestational trophoblastic disease. Epidemiology Placental site trophoblastic tumors typically occur in women of reproductive age with an average age of ~30 years. They may occur after a normal pr...
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Placenta accreta

Placenta accreta is both the general term applied to abnormal placental adherence and also the condition seen at the milder end of the spectrum of abnormal placental adherence (placenta accreta spectrum disorders). This article focuses on the second, more specific definition. In a placenta accr...
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Invasive mole

Invasive mole is a tumorous growth associated with gestation and falls under the spectrum of gestational trophoblastic disease. Due to their aggressive growth characteristics, invasive moles are considered locally invasive non-metastasizing neoplasms. Epidemiology An invasive mole develops in ...
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Molar pregnancy

Molar pregnancies, also called hydatidiform moles, are one of the most common forms of gestational trophoblastic disease.  Epidemiology Molar pregnancies are one of the common complications of gestation, estimated to occur in one of every 1000-2000 pregnancies 3. These moles can occur in a pre...
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Variation in placental morphology

There can be several variations in placental morphology. These include: single lobed discoid placenta (single disc): most common scenario bilobed placenta: two near equal size lobes succenturiate lobe(s): one or more smaller accessory lobes circumvallate placenta: rolled placental edges with...
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Succenturiate lobe

A succenturiate lobe is a variation in placental morphology and refers to a smaller accessory placental lobe that is separate to the main disc of the placenta. There can be more than one succenturiate lobe. Epidemiology The estimated incidence is ~2 per 1000 pregnancies. Risk factors Some au...
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Vasa previa

Vasa previa refers to a situation where there are aberrant fetal vessels crossing over or in close proximity to the internal cervical os, ahead of the fetal presenting part. These vessels are within the amniotic membranes, without the support of the placenta. Vasa previa is a rare but potentiall...
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Physiological gut herniation

Physiological gut herniation is a natural phenomenon that occurs in early pregnancy. It usually occurs from around 6-8 weeks until 12-13 weeks in utero, after which the bowel returns to the abdominal cavity.  Physiology It occurs as a result of the bowel (particularly ileum) growing faster tha...
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Choriocarcinoma

Choriocarcinoma is an aggressive, highly vascular tumor. When it is associated with gestation, it is often considered part of the spectrum of gestational trophoblastic disease; it is then termed gestational choriocarcinoma. When it occurs in the absence of preceding gestation, it is termed non-g...
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Obstetric curriculum

The obstetric curriculum is one of our curriculum articles and aims to be a collection of articles that represent the core obstetric knowledge. Definition Topics pertaining to the normal and abnormal pregnancy, the gravid uterus and fetal environment, placenta, normal fetal development and fet...
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Fanconi anemia

Fanconi anemia is a rare disorder characterized by progressive bone marrow failure, various congenital abnormalities, and predisposition to malignancies (often acute myeloid leukemia). Bone marrow failure usually results in decreased production of all blood cells. It is considered the commonest ...
Article

Arthrogryposis

Arthrogryposis (multiplex congenita) is a clinical or imaging descriptor that denotes congenital non-progressive joint contractures involving two or more body regions.  Epidemiology Arthrogryposis has been mostly reported in individuals of Asian, African and European descent with equal inciden...
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Lambda sign (disambiguation)

There are two described lambda signs: lambda sign (twin pregnancy) lambda sign (sarcoidosis)
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Fetal alcohol syndrome

Fetal alcohol syndrome (FAS) is a potential syndromic complication that can occur with maternal pre-natal alcohol exposure. It is also broadly categorized as fetal alcohol spectrum disorders (FASD) due to the fact that the fetus may not show all the features and the broad spectrum of effects on ...
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Absent nasal bone

In a fetal sonographic assessment, an absent nasal bone is a feature that can sometimes be used as a surrogate marker for fetal aneuploidy. Radiographic assessment Antenatal ultrasound It is assessed on a midline sagittal view. In this section, the nasal bone is often seen as a bright echogen...
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Posterior urethral valves

Posterior urethral valves (PUVs), also referred as congenital obstructing posterior urethral membranes (COPUM), are the most common congenital obstructive lesion of the urethra and a common cause of obstructive uropathy in infancy. Epidemiology Posterior urethral valves are congenital and only...
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Fetal heart rate in the first and second trimester

A normal fetal heart rate (FHR) usually ranges from 120 to 160 beats per minute (bpm) in the in utero period. It is measurable sonographically from around 6 weeks and the normal range varies during gestation, increasing to around 170 bpm at 10 weeks and decreasing from then to around 130 bpm at ...
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OEIS complex

The OEIS complex refers to the combined occurrence of: an omphalocele bladder exstrophy / cloacal exstrophy an imperforate anus and spinal anomalies: e.g kyphoscoliosis hemivertebrae Epidemiology The estimated occurrence is at around 1-200,000 to 400,000 live births 1,8. Pathology Pos...
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Gastroschisis

Gastroschisis refers to an extra-abdominal herniation (evisceration) of fetal or neonatal bowel loops (and occasionally portions of the stomach and or liver) into the amniotic cavity through a para-umbilical anterior abdominal wall defect. Epidemiology The estimated incidence is around 1-6 per...
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Fetal biophysical profile

Fetal biophysical profile score (BPS or BPP) refers to assessment of four discrete biophysical variables by ultrasound. It is a standard tool in antepartum fetal assessment. It is usually assessed after 28 weeks of gestation. Radiographic features Antenatal ultrasound The ultrasound variables...
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Ovarian vein thrombosis

Ovarian vein thrombosis (actually most often thrombophlebitis) occurs most commonly in postpartum patients and can result in pulmonary emboli. A presentation is usually with acute pelvic pain in the postpartum period, then termed puerperal ovarian vein thrombosis or postpartum ovarian vein throm...
Article

Ectopia cordis

Ectopia cordis is an extremely rare congenital malformation where the heart is located partially or totally outside the thoracic cavity. The four main ectopic positions are: adjacent to the thorax: ~60% abdominal: 15-30% thoracoabdominal: 7-18%  cervical: ~3% Epidemiology The incidence is ...
Article

Brachydactyly

Brachydactyly (BD) essentially refers to short digits. It is often inherited as an autosomal dominant trait (all the types). The clinical spectrum can widely range from minor digital hypoplasia to complete aplasia. As a group, it most commonly involves the middle phalanx 2. Single or multiple bo...
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Bladder exstrophy

Bladder exstrophy (also known as ectopia vesicae) refers to a herniation of the urinary bladder through an anterior abdominal wall defect. The severity of these defects is widely variable. Epidemiology The estimated incidence of bladder exstrophy is 1:10,000-50,000 live births 3,5. There is a ...
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Uterine rupture

Uterine rupture is a rare but nevertheless potentially catastrophic complication that can occur in pregnancy.  Epidemiology The incidence rate in pregnancy is 0.05% 6.   Clinical presentation Uterine rupture is usually an acute presentation with hemodynamic instability and abdominal discomfo...
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Congenital cytomegalovirus infection

Congenital cytomegalovirus infections result from intrauterine fetal infection by cytomegalovirus (CMV). Epidemiology Cytomegalovirus is the most common cause of intrauterine infection and the most common cause of congenital infective and brain damage, occurring in 0.2-2.4% of live births. An...
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Intracranial cystic lesions in the perinatal period

Intracranial cystic lesions in the perinatal period can carry a relatively wide differential which includes: Supratentorial cystic lesions cysts arachnoid cyst choroid plexus cyst connatal cyst holoprosencephaly multicystic encephalomalacia periventricular leukomalacia porencephalic cys...
Article

Conjoined twins

Conjoined twin pregnancy is a rare occurrence resulting from the failure of a zygote to separate completely after 13 days 11. This results in the twins being physically joined. Epidemiology The prevalence of conjoined twins ranges from 1:50,000 to 1:200,000. They are more common in parts of So...
Article

Acute fatty liver of pregnancy

Acute fatty liver of pregnancy (AFLP) is a rare pregnancy-associated condition that tends to manifest in the 3rd trimester of pregnancy or early postpartum period. Epidemiology The estimated incidence is at around 1:7000-20,000 births.  Clinical presentation Patients may present with nausea,...
Article

HELLP syndrome

HELLP syndrome is a pregnancy-related condition and is an abbreviation for: haemolysis elevated liver enzymes and  low platelets It is considered a severe and life-threatening form of pre-eclampsia although it can occur without co-existing pre-eclampsia.  Epidemiology The estimated inciden...
Article

Retained products of conception

Retained products of conception (RPOC) refer to the persistence of placental and/or fetal tissue in the uterus following delivery, termination of pregnancy or a miscarriage.  Epidemiology RPOC complicates ~2.5% (range 1-5%) of all routine vaginal deliveries 12. According to one prospective st...
Article

Gartner duct cyst

Gartner duct cysts develop from embryologic remnants of the Wolffian (mesonephric) duct. They are often noticed incidentally on ultrasound or MRI. Epidemiology Associations Gartner duct cysts most often are isolated findings, but can also be associated with abnormalities of the metanephric ur...
Article

Encephalocele

Encephalocele, also known as meningoencephalocele, is a form of neural tube defect and a type of cephalocele where brain tissue and overlying meninges herniate out through a defect in the cranium.  Terminology It should be distinguished from cranial meningocele in which the lesion contains onl...
Article

Placental abruption

Placental abruption (or abruptio placentae) refers to a premature separation of the normally implanted placenta after the 20th week of gestation and before the 3rd stage of labor. It is a potentially fatal complication of pregnancy and is a significant cause of third-trimester bleeding/antepartu...
Article

Placenta previa

Placenta previa refers to an abnormally low lying placenta such that it lies close to, or covers the internal cervical os. It is a common cause of antepartum hemorrhage. Placenta previa is a potentially life-threatening condition for both mother and infant. As such, antenatal diagnosis is essen...
Article

Seckel syndrome

Seckel syndrome is an autosomal recessive congenital dwarfing disorder. Epidemiology The estimated incidence is ~1:10,000. There is no recognized gender predilection. Clinical presentation It is clinically characterized by many features including: intrauterine growth restriction postnatal ...
Article

Pena-Shokeir syndrome

The Pena-Shokeir syndrome (PSS) is an autosomal recessive nonaneuploidic condition with some clinical features being similar to that of trisomy 18. The condition is most often lethal.  Epidemiology The estimated incidence is at ~1 in 12,000 births. Clinical presentation Features include 2,4:...
Article

Ovarian ectopic pregnancy

Ovarian ectopic pregnancies are rare when compared to other types of ectopic pregnancy such as tubal ectopic.  Epidemiology The ovary is the anatomic site of less than 3% of ectopic pregnancies 5. Clinical presentation Patients present with abdominopelvic pain during the first trimester (usu...
Article

Goldenhar syndrome

Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum (OAVS), Goldenhar-Gorlin syndrome or facio-auriculo-vertebral dysplasia, is a complex congenital anomaly characterized by abnormalities of the ears, eyes and vertebrae. Epidemiology The estimated incidence is at 1 in 3000-5000...
Article

Neu-Laxova syndrome

Neu-Laxova syndrome is a lethal autosomal recessive multiple malformation syndrome with a heterogeneous phenotype. Clinical presentation The clinical spectrum can be quite wide and includes: dermal / cutaneous severe skin restriction ichthyosis decreased fetal movement marked intrauterine...
Article

Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz syndrome (SLOS) also known as 7-dehydrocholesterol reductase deficiency, is an inborn error of cholesterol synthesis.  Epidemiology The estimated incidence is at 1:20,000-40,000 live births. Prevalence may be greater in Nordic countries. Associations Hirschsprung disease C...
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Micrognathia

The term micrognathia describes a small mandible. Epidemiology Associations Micrognathia is associated with a vast array of other congenital anomalies which include: aneuploidic syndromic trisomy 9 4 trisomy 13 trisomy 18  non-aneuploidic syndromic arterial tortuosity syndrome Fryns sy...
Article

Ectrodactyly

Ectrodactyly (also known as a split hand-split foot malformation, cleft hand or lobster claw hand) is a skeletal anomaly predominantly affecting the hands (although the feet can also be affected). The condition has a highly variable severity. Epidemiology The estimated incidence is at ~ 1 in 9...
Article

Braxton Hicks contractions

Braxton Hicks contractions are physiological contractions of myometrium that occur in pregnancy. They are often sporadic and start by ~6 weeks. Radiographic features Antenatal ultrasound It may be seen as a transient change myometrial thickness 2. History and etymology Named after John Brax...
Article

Uterine artery embolization

Uterine artery embolization (UAE) is an interventional radiological technique to occlude the arterial supply to the uterus and is performed for various reasons. History Uterine artery embolization has been practised for more than 20 years for controlling hemorrhage following delivery/abortion,...

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