Aarskog syndrome or Aarskog–Scott syndrome (also known as the facio-digito-genital syndrome) is a rare anomaly characterized by short stature in association with a variety of structural anomalies involving mainly the face, distal extremities, and external genitalia.
Aase-Smith syndrome is an extremely rare congenital disorder.
congenital hypoplastic anaemia - fetal anaemia
cleft lip, cleft palate
hydrocephalus (due to Dandy-Walker anomaly)
Abdominal ectopic pregnancies are an extremely rare type of ectopic pregnancy.
They are thought to represent ~1% of all ectopic pregnancies 6 with an estimated incidence of 1:1000-10,000 births.
It is often thought that they most frequently result from a tubal rupture ...
Abdominoschisis refers to a split or in the abdominal wall. Some authors use the term synonymously with a gastroschisis. When the defect continues into the thoracic region it is termed a thoraco-abdominoschisis. A large abdominoschisis is considered part of the limb body wall complex 2.
Abnormal ductus venosus waveforms can arise in a number of conditions ranging from aneuploidy to vascular malformations and fetal tumours.
Abnormal waveforms in fetal ductus venosus flow assessment can occur in a number of situations:
Down syndrome: around 80...
An eccentrically located gestational sac towards the fundus of uterus is the normal sonographic appearance; however an abnormally eccentric gestational sac on ultrasound may be apparent due to a number of causes
interstitial ectopic pregnancy 1
normally implanted pregnancy in a
An abnormally low sac position can result from several possibilities which include
impending / ongoing miscarriage
cervical ectopic pregnancy
fundal fibroid or other mass compressing the sac downward
Abnormally thickened endometrium on imaging may occur for a number of reasons which may be categorised based on whether or not they are related to pregnancy. Aetiologies may also be classified based on whether the patient is premenopausal or postmenopausal.
Agenesis of the ductus venosus (ADV) is a rare fetal vascular anomaly. According to the data obtained from the screening tests performed at 11-14 weeks of pregnancy, its incidence is reported to be 1/2500 (12).
In the literature review on ductus venosus agenesis, Acherman et.al (13) ...
In fetal sonographic assessment, an absent nasal bone is a feature which can sometimes be used as an adjunctive marker for fetal aneuploidy.
It is assessed on a midline sagittal view. In this section the nasal bone is often seen as a bright echogen...
An absent septum pellucidum may rarely be an isolated finding, or more commonly be seen in association with a variety of conditions.
The septum pellucidum is partly or entirely absent in 2 or 3 individuals per 100,000 in the general population.
An absent septum pelluc...
Absent end diastolic flow (AEDF) in an umbilical artery Doppler assessment is a useful feature which indicates underlying fetal vascular stress if detected in mid or late pregnancy. It is often classified as Class II in severity in abnormal umbilical arterial Dopplers 9.
Absence of the yolk sac in the presence of an embryo on a transvaginal ultrasound is considered abnormal, and in general is associated with subsequent embryonic death.
Acardiac twins (or recipient twins) are haemodynamically disadvantaged non-viable twins that undergo secondary atrophy in association with a twin reversed arterial perfusion sequence.
Acardiac twinning is thought to affect 1 in 100 monozygotic twin pregnancies and 1 in 35,000 preg...
Acheiria refers to absence of one or both hands and can occur in a number of situations, including:
amniotic band syndrome: particularly if unilateral
Cornelia de Lange syndrome 1
fetal hydantoin syndrome 2
Rare defect occurring in 1:65 000 live births.
Achondrogenesis refers to a group of rare and extreme skeletal dysplasias.
The estimated incidence is 1:40,000 with no recognised gender predilection.
It is classified as an osteochondrodysplasias, meaning deficiency of both bone and cartilage development.
Acrania is a rare lethal congenital anomaly characterised by an absence of the calvarium.
The estimated incidence is at ~1:1000 pregnancies 4.
The condition is thought to result from abnormal migration of mesenchymal tissue, which normally covers the cerebral hemisph...
Acrania anencephaly sequence is the progression from a relatively normal-appearing brain (acrania) to an amorphous brain mass (exencephaly) to no recognizable brain tissue (anencephaly) 1.
The acrania anencephaly sequence begins with acrania, which is the most common anomaly affec...
Acrocephalopolysyndactyly (ACPS) syndrome is comprised of a rare group of disorders collectively characterised by:
calvarial anomalies: e.g. craniosynostoses
digital anomalies: syndactyly and polydactyly
While there can be some overlap in features, they can be primarily classified into the fo...
Acrocephalosyndactyly syndromes (ACS) is a rare group of disorders collectively characterised by:
calvarial anomalies, e.g. craniosynostoses
digital anomalies, e.g. syndactyly
While there can be some overlap in features, they can be primarily classified into the following majo...
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.
The estimated incidence is at around 1:7000-20,000 births.
Patients may present with nausea,...
The Adams-Oliver syndrome (AOS) is a rare disorder characterised by aplasia cutis congenita (missing hair and/or skin) and variable degrees of terminal transverse limb defects.
polymicrogyria: can be associated with a variant of Adams-Oliver syndrome 3
Human AFP (alpha-fetoprotein) reduction is seen in pregnancy where it can be associated with:
certain chromosomal anomalies
Cornelia de-Lange syndrome 2
Agenesis of the diaphragm is a congenital diaphragmatic developmental anomaly where all or part of diaphragm fails to form. It can sometimes be thought of as an extreme form congenital diaphragmatic herniation 1.
The agenesis can either be unilateral or bilateral. Herniation of abdom...
Acquired immuno deficiency syndrome (AIDS) embryopathy is characterised by a group of dysmorphic features, which manifests either before or after birth in offsprings of women who are infected by HIV virus. The diagnosis however is in disfavour according to some authors 2.
Allantoic cysts are a type of true cyst of the umbilical cord.
The allantois forms from the part of the fetal yolk sac that eventually becomes the primitive hindgut (the cloaca). The cloaca divides into the hindgut posteriorly and the urogenital sinus anteriorly. The allantois remain...
Amelia refers to a skeletal dysplasia characterised by the complete absence of upper or lower extremity or all four limbs. It may be associated with other congenital anomalies, i.e. omphalocoele and diaphragmatic hernias 3.
Amelia is a very rare congenital anomalies with incidence...
Amniocentesis (also known as amniotic fluid testing or AFT), is a diagnostic or therapeutic medical procedure primarily used in prenatal diagnosis of chromosomal abnormalities and fetal infections.
A small amount of amniotic fluid (15-20 ml), which contains fetal tissue, is extracted from the a...
Amnion refers to a membranous structure which covers and protects the embryo. It forms inside the chorion. The amnion usually fuses with the outer chorion by around 14 weeks of gestation.
The amnion can be visualised in most pregnancies before the 12th week of...
An amnioreduction is a procedure where an amniocentesis is performed for intentional reduction of amniotic fluid volume. This is sometimes performed in the context of extreme polyhydramnios (particularly in the recipient twin in twin to twin transfusion syndrome).
Amniotic band syndrome (ABS) comprises of a wide spectrum of abnormalities which result from entrapment of various fetal parts from a disrupted amnion. Due to the randomness of entrapment, each affected individual has the potential to form a very unique deficit.
The phenomenon is ...
Amniotic bands refer to free floating blind ending amnion with an intact chorionic membrane. In certain situations they lead to the amniotic band syndrome. They should not be confused with amniotic shelves which refer to the presence of amnion folding around pre-existing uterine adhesions. Some ...
An amniotic fluid discordance is usually defined as a difference in amniotic fluid volumes in a twin pregnancy. It is a predictor of poor fetal outcome in twin pregnancy related complications.
Causes of amniotic fluid discordance include :
twin-twin transfusion syndrome
The amniotic fluid index (AFI) is an estimate of the amniotic fluid volume in a fetus. It is part of the fetal biophysical profile.
uterus is divided into four imaginary quadrants with linea nigra and umbilicus acting as the vertical and the horizontal axis respectively
Amniotic fluid volume (AFV) is a function both of the amount of water transferred to the gestation across the placental membrane, and the flux of water across the amnion.
Change in volume through gestation
The AFV undergoes characteristic changes with gestation. It progressively ri...
Amniotic shelf (also known as an amniotic sheet 4) refers to a sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion. In contrast to amniotic bands, they are not thought to be associated with any fetal deformity.
Ampullary ectopic pregnancy is the commonest type of tubal ectopic pregnancy and accounts for ~70% of such cases. According to one study the disruption of the tubal wall was less than as in isthmic ectopic pregnancy 2.
Amyoplasia congenita is a syndrome characterized by multiple specific congenital joint contractures, associated with substitution of muscular tissue by fibrosis and adipose tissue.
The estimated incidence is at 1: 10000 live births. There may be a higher prevalence with twin preg...
Anembryonic pregnancy is a form of a failed early pregnancy, where a gestational sac develops, but the embryo does not form. The term blighted ovum is synonymous with this, but is falling out of favour and is best avoided.
The patient may be asymptomatic, presenting for ...
Getting a film with anembryonic pregnancy in the radiology fellowship examination is one of the many exam set-pieces that the candidate must be prepared for.
Transabdominal and transvaginal pelvic ultrasound shows a uterus with an intrauterine gestational sac. MSD is 25mm in TV st...
Anencephaly is the most severe form of cranial neural tube defect (NTD) and is characterised by absence of cortical tissue (although brainstem and cerebellum may be variably present) as well as absence of the cranial vault. The morphological spectrum within anencephaly ranges from holocrania (mo...
Aneuploidy refers to an abnormal number of chromosomes, and is a type of chromosomal abnormality.There are large number potential aneuploidic anomalies. The most common three in obstetric practice are:
trisomy 21: commonest aneuploidic anomaly
Anhydramnios is a term where there is a complete or near-complete lack of amniotic fluid (sometimes referred to as "liquor volume").
Anhydramnios can result in a number of situations:
fetal renal tract anomalies
Potter syndrome (bilateral renal agenesis): most common
Anophthalmia refers to a complete absence of ocular development. It is often considered to represent the most severe form of microphthalmia.
It can occur in 3 different situations:
primary anophthalmia: complete absence of eye tissue due to a failure of the part of the brain that fo...
Antenatal screening of Down syndrome (and other less common aneuploidies) should be available as a routine component of antenatal care. It allows families to either adjust to the idea of having a child with the condition, or to consider termination of pregnancy.
For a general description of Dow...
Antenatal screening and diagnosis is currently available for a select few 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 the ...
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 some non chromosomal abnormalities.
Most of the described features do not constitute a structu...
An antepartum haemorrhage (APH) usually refers to PV bleeding during the second half of pregnancy (after 20 weeks gestation).
It can arise from many causes which include:
differential diagnosis fo...
Apert syndrome (also known as type I acrocephalosyndactyly) is a syndrome that is predominantly characterised by skull and limb malformations.
The estimated incidence is at 1:65-80,000 pregnancies.
Thought to occur from a defect on the fibroblast growth factor receptor...
Apgar score was originally described by Virginia Apgar (American anaesthesiologist, 1909-1974) in 1952.
Helpfully, her surname is also a useful mnemonic for remembering the 5 factors: each is graded as 0, 1 or 2 with a total possible score of 10. The lower the score the worse the prognosis.
Apple-peel intestinal atresia, also known as type IIIb or Christmas tree intestinal atresia, is a rare form of small bowel atresia in which the duodenum or proximal jejunum ends in a blind pouch and the distal small bowel wraps around its vascular supply in a spiral resembling an apple peel. Oft...
Aprosencephaly is an extremely rare anomaly fetal cerebral development the derivatives of the telencephalon as well as the diancephalon are absent or dysplastic, while more caudal structures are normal or mildly deformed. It falls under the aprosencephaly / atelencephaly spectrum (AAS)
A fetal arachnoid cyst is term given when an arachnoid cyst is diagnosed in utero. For a general discussion of arachnoid cysts refer to the parent article.
They can be classified as being primary or secondary 2.
primary (congenital) arachnoid cysts: result from a benign accumulation...
Arthrogryposis (multiplex congenita) is a clinical or imaging descriptor that denotes congenital non-progressive joint contractures involving two or more body regions.
It is thought to occur in approximately 1:3000-10,000 live births 6,8.
It can result from a number o...
An artificial rupture of membranes (AROM) is a procedure that can be used for the induction of labour.
A sterile, plastic, thin hook is brushed against the membranes just inside the cervix (termed a membrane sweep) This causes the fetal head to move down against the cervix, usually ...
Asphyxiating thoracic dysplasia (also known as Jeune syndrome) is a type of rare short limb skeletal dysplasia, which is primarily characterised by a constricted long narrow thoracic cavity, cystic renal dysplasia and characteristic skeletal features. It is also sometimes classified as one of th...
Asymmetrical intrauterine growth restriction is a type of intrauterine growth restriction (IUGR) where some fetal biometric parameters are disproportionately lower than others, as well as falling under the 10th percentile. The parameter classically affected is the abdominal circumference (AC).
Atelencephaly (also termed atelencephalic microcephaly) is a rare and extreme disorder with only a handful of published cases. In this anomaly, the derivatives of the telencephalon are absent or dysplastic, while more caudal structures are normal or mildly deformed. It falls under the aprosencep...
Atelosteogenesis (AO) refers to a group of lethal skeletal dysplasias.
atelosteogenesis type I
atelosteogenesis type II
atelosteogenesis type III 4
Atypical ectopic pregnancy generally refers to an ectopic pregnancy which occurs outside the fallopian tube.
interstitial ectopic: 3% (often also termed cornual ectopic), also essentially a type of tubal ectopic
cornual ectopic (<1%)
ovarian ectopic: 0.5-1% (ovarian pre...
Autosomal recessive polycystic kidney disease (ARPKD) is one of many paediatric cystic renal diseases.
On imaging, it usually presents on ultrasound with enlarged echogenic kidneys with multiple small cysts. Liver involvement with coarse echotexture, biliary tract cystic changes, and portal hyp...
AVID (Asymmetric Ventriculomegaly, Interhemispheric cyst and Dysgenesis of the corpus callosum) is a recently recognised triad of congenital cerebral anomalies.
markedly asymmetric enlargement of the lateral ventricles may be the initial finding on routine fetal morpholog...
The banana sign is one of the many notable fruit inspired signs.
It is seen on axial imaging through the posterior fossa of fetus and is associated with the Chiari II malformation. It describes the way the cerebellum is wrapped tightly around the brain stem as a result of spinal cord tethering ...
A Bandl ring may be seen during imaging of a patient in labour.
It is considered to be an uncommon finding in modern obstetrics (0.01-1.26%).
It is a pathologic retraction ring at "Barnes boundary line", which separates the upper contractile portion of the ut...
Barth syndrome (BTHS), also referred to as 3-methylglutaconic aciduria type II is an extremely rare X-linked multi-system disorder that is usually diagnosed in infancy.
It is characterised by:
fetal cardiomyopathy: (dilated fetal cardiomyopathy (DCM) +/- endocardial fibroelastosis (EFE) +/- le...
Beta-hCG is a hormone found in the mother's blood serum that can be used to help interpret ultrasound findings.
Beta-hCG levels may be used in three ways:
qualitatively, for presence/absence of fetal tissue
more often determined with a urine test than with a serum test
includes or excludes a...
A bilobed placenta, also referred as bipartite placenta, is a variation in placental morphology and refers a placenta separated into two near equal lobes. If more than two lobes are present, it is termed a trilobed, four-lobed and so on.
The estimated incidence is at up to ~4% of ...
The binocular distance (BOD) is a measurement between the two lateral (outer) canthi of each eye. It is sometimes used as a accessory fetal biometric parameter where it is often documented on both 2nd trimester anatomy scans on axial brain scans. The largest diameter of the orbit should be used ...
Biparietal diameter (BPD) is one of the basic biometric parameters used to assess fetal size.
BPD together with head circumference (HC), abdominal circumference (AC), and femur length (FL) are computed to produce an estimate of fetal weight. In the second trimester this may be extrapolated t...
Birth fractures of the clavicle occur in 0.5-1% of vaginal deliveries and are the most frequent birth-related fracture. They are most commonly seen following normal, uncomplicated births but there is recognised increased incidence with high birth weight babies, forceps delivery and shoulder dyst...
Birth trauma relates to those conditions caused by both physical/mechanical and hypoxic injuries.
Birth trauma occurs in ~5 per 1000 births 2.
There are a wide range of conditions related to birth trauma, ranging from superficial and minor injuries through t...
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.
The estimated incidence of bladder exstrophy is 1:10,000-50,000 live births 4,6. There is a ...
Bladder flap haematoma is a haematoma between the uterus and posterior wall of bladder. They may be small (more commonly) or large (>5 cm, less common).
Small hematomas may be asymptomatic. Large ones may present with lower abdominal pain, dysuria, anaemia and fever (i...
Blake's pouch cyst is a cystic appearing structure that represents posterior ballooning of the inferior medullary velum into the cisterna magna, below and posterior to the vermis that communicates with an open fourth ventricle. It is caused by a failure of regression of Blake's pouch secondary t...
Blocked premature atrial contractions (BPACs) are considered a type cardiac bradyarrhythmia and if occurring in utero is classified under a fetal bradyarrhythmia.
It is seen when a premature atrial contraction occurs very early on and consequently it is not conducted into the v...
Brachycephaly refers to a calvarial shape where the bi-parietal diameter to fronto-occipital diameter approaches the 95th percentile. It can result from a craniosynostosis involving the bicoronal and/or bilambdoid sutures.
Brachycephaly can be associated with numerous ...
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...
Braxton Hicks contractions are physiological contractions that occur in pregnancy. They are often sporadic and start by ~6 weeks.
It may be seen as a transient change myometrial thickness 2.
History and etymology
Named after John Braxton Hicks: Eng...
A Breus mole is a term that was given to a very large subchorionic haemorrhage.
The lesions are a mass of fibrin formed secondary to thrombosis. They dissect and form a subchorionic thrombohematoma which ultimately causes stripping of the choriconic plate away from the villous spaces...
Bunch-of-grapes sign refers to the ultrasound appearance of multiple cystic spaces within the uterus as the result of hydropic swelling of trophoblastic villi within a hydatidiform mole.
This sign is also described in bronchiectasis where on plain radiograph, the dilated bronchi in approximatio...
Butterfly sign refers to the normal appearance of bilateral choroid plexuses on axial imaging of the fetal brain, commonly observed on the antenatal ultrasound. Its absence may suggest holoprosencephaly 1.
In the CNS, the term should not be mistaken by butterfly glioma, which is a glioblastoma ...
Caesarean scar ectopic pregnancy (CSEP) is a rare type of abnormal implantation. It is often considered the rarest type of ectopic pregnancy, although some do not include it in this category as implantation occurs within the uterus.
It has an estimated incidence of ~1:1800-2200 pr...
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.
abnormal increased echogenicity of the yolk sac with posterior a...
Camptodactyly is a clinical or imaging descriptive term where there is a flexion contracture (usually congenital) classically at the proximal interphalangeal joint.
The age of presentation can vary from being detected in utero in an antenatal scan or as an obvious deformi...
Camptodactyly arthropathy coxa vara pericarditis (CACP) syndrome is a rare condition principally characterised by
congenital or early-onset camptodactyly and childhood-onset non-inflammatory arthropathy
coxa vara deformity or other dysplasia associated with progressive hip disease
Cardiac rhabdomyomas are a type of benign myocardial tumour, and are considered the most common fetal cardiac tumour.
Cardiac rhabdomyomas are often multiple and can represent up to 90% of cardiac tumours in the paediatric population 1. The majority are diagnosed before the age o...
Carpenter syndrome, also called acrocephalopolysyndactyly type II (ACPS type II) is an extremely rare autosomal recessive congenital disorder
It is characterized by number of features which include:
kleeblattschädel (cloverleaf ...
Cebocephaly refers to a type of rare midline craniofacial anomaly where there is a single nostril (which usually ends blindly 6-7) with proboscis-like nose 8 and hypotelorism.
holoprosencephaly: particularly alobar holoprosencephaly
Cenani-Lenz syndactyly (CLS) is a very syndrome primarily characterised by:
syndactyly/oligodactly: syndactyly is often complete and gives a spoon hand type appearance
It carries an autosomal recessive inheritance.
It was first described...
The cephalic index (CI) is a value calculated using two fetal biometric parameters which are the occipitofrontal diameter(OFD) and the bipareital diameter(BPD).
It is calculated as:
cephalic index (CI) = bipareital diameter (BPD)/occipitofrontal diameter (OFD) x 100
The cephalic index give...
Cephalocoele refers to the outward herniation of CNS contents through a defect in the cranium. The vast majority are midline.
The estimated incidence is 0.8-4:10,000 live births 13 with a well recognised geographical variation between sub types. Thee may be a greater female predil...
Cephalopagus twins are a rare type of conjoined twins. They are fused from the vertex to the umbilicus. They share a common cranium with either one composite face or two faces on opposite sides of the conjoined head.
The thoraces are fused with fusion of liver, heart and the upper gastrointesti...
Cephalopelvic disproportion (CPD) occurs when there is a mismatch between the size of the fetal head and the maternal pelvis causing a difficulty in the safe passage of the fetus through the birth canal.
Cephalopelvic disproportion may be caused by the fetal head outgrowing the capac...