Fetal Syndromes Flashcards
This is a single defect leading to the development of other defect.
sequence
This is the presence of two or more embryologically unrelated anomalies occurring together.
syndrome
This is a non-random occurrence of two or more defects occurring less frequently than a syndrome but more frequently than chance alone.
association
This is a rare condition caused by strands of amniotic sac restrict tissue growth.
amniotic band syndrome
T/F? Amniotic bands are non-stretchable.
true
Amniotic Band Syndrome causes limb defects like…
- amputations
- constrictions
- clubfeet
- pseudosyndactyly
Amniotic Band Syndrome causes craniofacial defects like…
- asymmetric anencephaly
- encephalocele
- facial clefting
- severe facial dysmorphia
What sort of defects does amniotic band syndrome cause?
- limb defects
- craniofacial defects
- visceral defects
Sonographically, ABS appears as…
echogenic linear structure attached to the fetus and two or more deformities/defects
This is a condition where two or more digits are fused together.
syndactyly
T/F? 85% of Patau’s syndrome cases die before 1 yr old.
true
Sonographically, Patau’s syndrome will present with …
- holoprosencephaly**
- IUGR
- Polyhydramnios (20+ cm)
- corpus callosum agenesis
- microgathia
- cleft lip/palate
Patau’s sometimes presents with these congenital abnormalities…
- omphalocele
- heart issues
- polycystic kidneys
T/F? The prognosis for ABS cases is usually pretty bad.
FALSE, not necessarily
T/F? The prognosis for Patau’s is usually pretty bad.
true
Sonographically, Edward’s presents with…
- Clinodactyly **
- IUGR
- polyhydramnios
- heart issues
- micrognathia
- prominent occiput
- dandy walker
- limb malformations
Edward’s sometimes presents with these congenital abnormalities…
- diaphragmatic hernia
- omphalocele
- hydronephrosis
Sonographically, Down’s presents with…
- NUCHAL FOLD THICKNESS!!
A ‘thick’ nuchal fold measures __ between __ weeks.
greater than 6 mm, 15-21
Down’s sometimes presents with these congenital abnormalities…
- cystic hygroma
- mild ventriculomegaly
- heart issues
- duodenal atresia
- diaphragmatic hernia
- renal pyelectasis
- echogenic bowel
Turner’s syndrome is also known as…
XO karyotype, Bonnevie-Ullrich, gonadal dysgenesis, monosomy X.
Turner’s sometimes presents with these symptoms…
- short stature
- webbed neck
- absent or reduced sexual characteristics
- absence of menstruation
T/F? Turner’s cases are mentally limited.
FALSE, normal
T/F? Patau’s cases are born with swollen hands and feet.
FALSE, Turner’s
Other pathology associated with Turner’s?
- cystic hygroma
- heart issues
- horseshoe kidneys
- unilateral renal agenesis
Treatment for Turner’s?
HRT
Kleebattschadel syndrome is also known as…
craniosynostosis or cloverleaf skull
This is a condition in which the infant skull fuses prematurely, restricting brain growth.
cloverleaf
Other physical signs that come with cloverleaf are…
- bulging eyes
- beaked nose
- lowered ears
This is a hereditary syndrome of malformations to the heart and upper extremities.
Holt-Oram Syndrome
The most common heart defects in HOS patients are…
ASD and VSD.
This is an umbrella term describing the range of effects that occur in a person whose mother consumed alcohol in pregnancy.
FAS
T/F? FAS is less common in binge drinkers.
FALSE, more
Sonographically, FAS presents with…
- IUGR
- mental limitations
- microcephaly
- microphthalmos
- short metacarpals
- heart issues
- genital anomalies
Beckwith-Wiedemann Syndrome is also known as…
EMG syndrome.
EMG syndrome stands for..
Exomphalos, macroglossia**, gigantism
The most typical findings for EMG include…
- macrosomia
- polyhydramnios
- enlarged placenta
- distended abdomen
EMG might also present with these congenital abnormalities…
- heart issues
- placental chorioangiomas
- wilm’s tumors
- microencphaly
- umbilical hernia
- ear-lobe groove
- omphalocele
T/F? The prognosis for EMG cases is generally bad.
Maybe. Depends on whether or not they succumb to CHF in their first year.
Pentalogy of Cantrell is associated with these two major defects…
- omphalocele
2. ectopia cordis
Meckel-Gruber Syndrome is associated with these three major defects…
- occipital encephalocele
- large polycystic kidneys
- postaxial polydactyly
Treacher-Collins syndrome is also known as…
mandibulofacial dysotosis.
This condition effects the size and shape of the ears, cheek bones, and upper and lower jaws.
Treacher-Collins
T/F? Treacher-Collins is the result of an autosomal recessive gene.
FALSE, dominant
Treacher-Collins is associate in particular with what two traits?
- receding chin
2. heart defects
Ellis-Van Creveld Syndrome is also known as…
chondrodermal dysplasia.
This form of dwarfism is most prevalent among the Amish.
Ellis-Van Creveld Syndrome
Ellis-Van Creveld is associated with what pathology?
- polydactyly
- thoracic dysplasia
- limb shortening
- heart issues
T/F? The prognosis for Ellis-Van Creveld syndrome is generally good.
true, if they don’t succumb to respiratory and heart defects in the first few months
What’s VACTERL stand for?
Vertebral anomalies Anal atresia Cardiac anomalies Trachea atresia Esophageal atresia Renal/Radial anomalies Limb anomalies
Vertebral anomalies usually consist of __ vertebrae.
small or half-formed
Anal atresia is also known as…
imperforate anus.
