1,812 results found
Article
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 ...
Article
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
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...
Case
Heterotopic pregnancy
Published
18 Jul 2018
91% complete
Ultrasound
Article
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...
Article
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...
Article
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...
Article
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...
Article
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
...
Article
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 ...
Article
Noonan syndrome with multiple lentigines
Noonan syndrome with multiple lentigines, previously known as LEOPARD syndrome (LS), is a rare autosomal dominant RASopathy that has many similarities to Noonan syndrome.
Clinical presentation
Despite a change in formal name, the 'LEOPARD' acronym is still useful to summarize the clinical feat...
Article
Small placenta (mnemonic)
A mnemonic to remember the causes of small placenta is:
PCI 2
It can be read as percutaneous coronary intervention i.e. PCI 2
Mnemonic
P: pre-eclampsia
C: chromosomal anomaly e.g. Down syndrome
I: intrauterine infection
I: intrauterine growth restriction
Article
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...
Article
Partial hydatidiform mole
Partial hydatidiform mole is a type of molar pregnancy, which in turn falls under the spectrum of gestational trophoblastic disease.
Clinical presentation
Clinical signs and symptoms such as abdominal pain, cramps of the lower abdomen and vaginal bleeding during pregnancy are common but non-s...
Article
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome (RTS) is a very rare genetic multi-system disorder primarily characterized by intellectual disability, broad and often angulated thumbs and halluces, and distinctive facial features.
Epidemiology
The estimated incidence is 1 in 100,000-125,000 live births 5.
Clinical...
Article
Juberg-Hayward syndrome
Juberg-Hayward syndrome (JHS), also known as the oro-cranio-digital syndrome, is a rare autosomal recessive syndrome characterized by the association of the following:
growth restriction
microcephaly
cleft lip and palate
minor vertebral and rib anomalies 4
horseshoe kidneys 4
thumb anomal...
Article
Pulmonary hypoplasia
Pulmonary hypoplasia refers to underdevelopment of one or both lungs. This can be rapidly fatal at birth or mild, escaping detection for decades. It is most often secondary to congenital abnormalities that either restrict intrathoracic space or alter pulmonary fluid dynamics.
Epidemiology
Pulm...
Article
Radiation effects on embryonic and fetal development
Radiation effects on embryonic and fetal development are generally considered low risk compared to the normal risks of pregnancy. Most diagnostic x-ray and nuclear medicine examinations are <50 mSv and have not been demonstrated to produce any significant impact on fetal growth and development. ...
Case
Placental abruption
Published
19 May 2024
94% complete
Photo
Ultrasound
Case
Ureteric injury with urinoma formation
Published
16 May 2024
80% complete
CT
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