170 results
Article
Cornelia de Lange syndrome
Cornelia de Lange syndrome (CdLS) is an extremely rare clinically heterogeneous developmental disorder of unknown aetiology. Although the described clinical symptomatology is very broad, the majority of cases include growth impairment, learning disability and dysmorphic facies.
Epidemiology
Th...
Article
True umbilical cord knot
True umbilical cord knots are a rare occurrence and as the name suggests represent a knot formation in the umbilical cord.
Epidemiology
They occur in less than 1% of pregnancies.
Pathology
Risk factors
a long umbilical cord
polyhydramnios
small fetus
excessive fetal movements
Radiograph...
Article
Haematosalpinx
A haematosalpinx refers to intraluminal blood within the fallopian tube (often dilated).
Pathology
Aetiology
tubal ectopic pregnancy: common cause 1
endometriosis: common cause 5
tubal carcinoma
pelvic inflammatory disease
fallopian tube torsion
retrograde menstruation
uterine cervical...
Article
Circumvallate placenta
Circumvallate placenta refers to a variation in placental morphology in which, as a result of a small chorionic plate, the amnion and chorion fetal membranes ‘double back’ around the edge of the placenta.
Epidemiology
The prevalence is estimated to be around 1-7% 3.
Pathology
There is an inw...
Article
Threatened miscarriage
Threatened miscarriage (or threatened abortion) is mainly a clinical term, used when a pregnant woman in first 20 weeks of gestation presents with spotting, mild abdominal pain and contractions, with a closed cervical os 3.
Epidemiology
It occurs in 20-25% of pregnancies and is associated with...
Article
Fetal middle cerebral arterial Doppler assessment
Fetal middle cerebral arterial (MCA) Doppler assessment is an important part of assessing fetal cardiovascular distress, fetal anaemia or fetal hypoxia. In the appropriate situation it is a very useful adjunct to umbilical artery Doppler assessment. It is also used in the additional work up of:
...
Article
Fetal maceration
Fetal maceration is one of the signs of fetal death. It is a destructive process caused by enzymatic autolysis of cells that begins immediately following fetal death. It results in epidermal desquamation and oedema. It is visible on ultrasound between 12 to 24 hours after fetal death. It may not...
Article
Calcified yolk sac
A calcified yolk sac has been described as a sign of intrauterine demise. The cause of yolk sac calcification in failed pregnancies is uncertain but is likely related to dystrophic calcification.
Radiographic features
Ultrasound
abnormal increased echogenicity of the yolk sac with posterior a...
Article
Yolk sac
Yolk sac is the first anatomical structure identified within the gestational sac. It plays a critical role in embryonal development by providing nutrients, serving as the site of initial haematopoiesis, providing endocrine, metabolic and immunological functions and contributing to the developmen...
Article
Rocker bottom foot
A rocker bottom foot (also known as a congenital vertical talus) is a congenital anomaly of the foot. It is characterised 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...
Article
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
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...
Article
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 haemodynamic instability and abdominal discomf...
Article
Nuchal cord
Nuchal cord is a term given to the situation where there are one or more loops of umbilical cord wrapped around the fetal neck for ≥360°.
Epidemiology
The prevalence is dependent on the extent of coiling and ranges from ~25% for a single loop, to 2.5% for a double loop, to ~0.5% for more than ...
Article
Achondrogenesis
Achondrogenesis refers to a group of rare and extreme skeletal dysplasias.
Epidemiology
The estimated incidence is 1:40,000, with no recognised gender predilection.
Pathology
It is classified as an osteochondrodysplasia, meaning deficiency of both bone and cartilage development. The conditio...
Article
Corpus luteal cyst rupture
Ruptured corpus luteal cysts are one of the commonest causes of spontaneous haemoperitoneum in a woman of reproductive age.
Clinical presentation
Presentation is variable, ranging from completely asymptomatic to severe abdominal pain due to peritoneal irritation.
Pathology
The corpus luteum ...
Article
Mendelson syndrome
Mendelson syndrome, also known as peptic pneumonia, refers to acute chemical pneumonitis caused by the aspiration of stomach contents in patients under general anaesthesia.
Clinical presentation
This syndrome develops rapidly (2-12 hours after aspiration) and within hours the patient may bec...
Article
Placenta accreta spectrum disorders
Placenta accreta spectrum (PAS) disorders describe the degree to which there is an invasion by chorionic villi into the myometrium because of a defect in the decidua basalis.
Epidemiology
placenta accreta:
the commonest type of placental invasion (~75% of cases)
occurs in ~1 in 7000 pregnanc...
Article
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 ...
Article
Smith-Lemli-Opitz syndrome
Smith-Lemli-Opitz syndrome (SLOS) also known as 7-dehydrocholesterol reductase deficiency or RSH syndrome, 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
Hirschs...
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