Articles

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786 results found
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Hydrops fetalis

Hydrops fetalis is excessive fluid into the third space in a fetus, which could be due to heart failure, volume overload, decreased oncotic pressure, or increased vascular permeability. Epidemiology The estimated incidence is ~1 in 2000 pregnancies 16 and ~1 in 1000 live births 17, although th...
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Pre-eclampsia

Pre-eclampsia is a disorder of pregnancy involving new-onset hypertension (systolic BP ≥140 mmHg or diastolic BP ≥90 mmHg) and involvement of one or more other organ systems. Epidemiology Pre-eclampsia affects up to 8% of pregnancies 1. Risk factors diabetes mellitus 2 chronic hypertension ...
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Placentomegaly

Placentomegaly is a term applied to an abnormally enlarged placenta. Epidemiology Associations It can be associated with several maternal and fetal disorders: maternal maternal anemia(s) maternal diabetes chronic intrauterine infections alpha-thalassemia fetal umbilical vein obstructio...
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Renal agenesis

Renal agenesis refers to a congenital absence of one or both kidneys. If bilateral (traditionally known as the classic Potter syndrome) the condition is fatal, whereas if unilateral, patients can have a normal life expectancy.  Epidemiology Unilateral renal agenesis affects approximately 1 in ...
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Fetal tricuspid regurgitation

Tricuspid regurgitation (TR) (also known as tricuspid insufficiency) is a common finding in imaging of the fetus. Tricuspid regurgitation represents the abnormal backflow of blood into the right atrium during right ventricular contraction due to valvular leakage (i.e. it is a valvulopathy).  Ep...
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Chiari III malformation

Chiari III malformation is an extremely rare anomaly characterized by a low occipital and high cervical encephalocele with herniation of posterior fossa contents, that is, the cerebellum and/or the brainstem, occipital lobe, and fourth ventricle.  Pathology Associations agenesis of the corpus...
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Fetal bowel dilatation

Fetal bowel dilatation can occur from many causes, which include: intestinal atresias: mainly distal anal atresia apple-peel intestinal atresia ileal atresia jejunal atresia jejuno-ileal atresia Hirschsprung disease megacystis microcolon hyperperistalsis syndrome 4 congenital chloride d...
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Isolated inferior vermian hypoplasia

Isolated inferior vermian hypoplasia (IIVH) is a congenital malformation characterized by partial absence of the inferior portion of the cerebellar vermis. Terminology Previously the term Dandy-Walker variant was used to describe cystic malformations of the posterior fossa that did not meet th...
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Monochorionic twin pregnancy

A monochorionic twin pregnancy is a type of monozygotic twin pregnancy where the twins share a single chorion. Depending on the sharing of the amnion this can be further divided into two types: monochorionic monoamniotic (MCMA) pregnancy: single amnion monochorionic diamniotic (MCDA) pregnancy...
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Monozygotic twin pregnancy

A monozygotic (MZ) twin pregnancy results from the division of single zygote following fertilization, resulting in identical genetic material. These twins are therefore always of the same sex. Epidemiology Monozygotic twins account for approximately 30% of all twin pregnancies 1. The estimated...
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Twin-to-twin transfusion syndrome

Twin-to-twin transfusion syndrome (TTTS), less commonly known as stuck twin syndrome, is a potential complication that can occur in a monochorionic twin pregnancy (either MCDA or MCMA).  Epidemiology This complication can occur in ~10% (range 15-25%) of monochorionic pregnancies, giving an est...
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Congenital megaureter

A congenital (primary) megaureter encompasses causes of an enlarged ureter which are intrinsic to the ureter, rather than as a result of a more distal abnormality; e.g. bladder, urethra (see secondary megaureter). It includes: obstructed primary megaureter refluxing primary megaureter althoug...
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Non-invasive perinatal testing (NIPT)

Non-invasive perinatal testing (NIPT) is an antenatal screening technique that relies on the detection of small amounts of cell-free fetal DNA to be detected in the maternal bloodstream, hence allowing prenatal genetic diagnosis to occur by way of a maternal blood test. It can be performed from ...
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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...
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Congenital pulmonary airway malformation

Congenital pulmonary airway malformations (CPAM) are multicystic masses of segmental lung tissue with abnormal bronchial proliferation. CPAMs are considered part of the spectrum of bronchopulmonary foregut malformations. Terminology Until recently, they were described as congenital cystic aden...
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Placental infarction

Placental infarction refers to a localized area of ischemic villous necrosis. It is a significant cause of placental insufficiency.  Epidemiology A localized infarction can occur in up to ~25% of all placental pathologies and approximately 5-20% of all gestations (on average 12.5%) 6.  Pathol...
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Barth syndrome

Barth syndrome (BTHS), also known as 3-methylglutaconic aciduria type II, is an extremely rare X-linked multisystem disorder that is usually diagnosed in infancy. Epidemiology Barth syndrome has an estimated prevalence of 1 in 300,000-400,000 live births. Clinical presentation It is characte...
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Roberts syndrome

Roberts syndrome, also known as Roberts-SC phocomelia syndrome, pseudothalidomide syndrome, or Appelt-Gerken-Lenz syndrome, is a rare congenital malformation syndrome. Clinical presentation general intrauterine growth restriction postnatal growth and developmental delay failure to thrive t...
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Megalencephaly

Megalencephaly is a disorder characterized by an abnormally large brain. It is primarily a proliferative disorder of embryonic origin. It may involve all or part of the cerebral hemispheres and can be bilateral or unilateral. It is often associated with polymicrogyria or agyria.  Terminology  ...
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Lowe syndrome

Lowe syndrome, also known as the oculocerebrorenal syndrome of Lowe, is a multisystem disorder characterized by anomalies primarily affecting the eyes, nervous system, and kidneys. Epidemiology It is an extremely rare, pan-ethnic disease, with an estimated prevalence in the general population ...

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