Fetal Syndromes Flashcards
(19 cards)
What is a syndrome?
A pattern of multiple anomalies arising due to a single known causative factor
The anomalies usually involve multiple systems and do not bear a cause–effect relationship between themselves.
What is the importance of recognizing anomaly patterns?
Leads to the diagnosis of a particular syndrome, enabling genetic counseling and management
Clear information is crucial during this period of turmoil for prospective parents.
What are the possible etiologic factors for syndromes?
- Chromosomal abnormalities
- Mutant gene defects
- Infective agents
- Teratogenic drugs or addictive substances
There are many situations where the etiology has not been resolved.
What are genes?
The building blocks for your body, pieces of DNA that carry genetic information to children
Genes are inherited from both parents.
What is DNA?
Packaged in structures called chromosomes, carries genetic information
DNA is essential for the biological functions of organisms.
What are chromosomes?
Structures that look like thread, found in the nucleus of cells, carrying genetic information
Chromosomes are essential for cell division and inheritance.
What is Beckwith-Wiedemann Syndrome?
An overgrowth disorder occurring in 1 in 11,000 births with features including macrosomia, omphalocele, and macroglossia
Other features include umbilical hernia, hepatomegaly, nephromegaly, placentomegaly, and polyhydramnios.
What are the ultrasound findings for Beckwith-Wiedemann Syndrome?
- Macroglossia
- Omphalocele
- Umbilical hernia
- Biometrics showing size greater than dates
Ultrasound can help in early diagnosis.
What is Turner Syndrome?
A chromosomal condition affecting females, characterized by complete or partial absence of the second X chromosome
Prevalence is approximately 1 in 2000 to 1 in 2500 live female births.
What are some ultrasound features of Turner Syndrome?
- Cystic hygroma
- Coarctation of the aorta
- Renal anomalies
Common renal anomalies include unilateral renal agenesis and horseshoe kidney.
What is Noonan Syndrome?
An autosomal dominant disorder caused by mutations in at least 8 genes, with a prevalence of 1:1,000 to 1:2,500
Cognitive impairments may be present but are often low-average.
What are ultrasound characteristics of Noonan Syndrome?
- Increased nuchal translucency
- Cystic hygroma
- Hydrops fetalis
- Pleural effusion
- Polyhydramnios
- Congenital heart defects
- Renal abnormalities
These features can assist in prenatal diagnosis.
What is Meckel-Gruber Syndrome?
An autosomal recessive lethal disorder caused by mutations in thirteen genes, characterized by occipital encephalocele and bilateral polycystic kidneys
The incidence varies from 1 in 13,250 to 1 in 140,000 live births.
What are the typical manifestations of Meckel-Gruber Syndrome?
- Occipital encephalocele
- Bilateral polycystic kidneys
- Post axial polydactyly
- Club feet
Most infants with this syndrome are stillborn or die shortly after birth.
What is Treacher Collins Syndrome?
A condition affecting the development of bones and tissues of the face, caused by variants in the TCOF1, POLR1C, or POLR1D gene
The prevalence is estimated to be between 1 in 10,000-50,000 individuals.
What are common features of Trisomy 21 (Down’s Syndrome)?
- Nuchal fold thickness
- Absent or shortened nasal bone
- Clinodactyly
- Cardiac defects
- Short long bones
- Abdominal defects
Prevalence is approximately 1 in every 700 live births.
What are the ultrasound findings for Trisomy 18 (Edward’s syndrome)?
- Omphalocele
- Early-onset fetal growth restriction
- Polyhydramnios
- Strawberry-shaped cranium
- Choroid plexus cyst
- Overlapping of hands fingers
- Congenital heart defects
- Single umbilical artery
Trisomy 18 occurs at a rate of 1 in 2000-6000 live births.
What are the most common defects associated with Trisomy 13 (Patau syndrome)?
- VSDs
- Echogenic bowel
- Enlarged kidneys
- Holoprosencephaly
- Omphalocele
- Proboscis
- Severe hypotelorism/cyclopia
- Polydactyly
- Cleft lip/palate
Most fetuses with Trisomy 13 die in utero or are stillborn.
True or False: Most children with a chromosomal abnormality are born to women over age 35.
False
Overall 80% of children with a chromosomal abnormality are born to women under age 35.
