Other Conditions Flashcards
How often is 22q inherited
10%
What ultrasound findings are associated with 22q
Heart defects (74%) VSD, tetralogy of fallot, aortic arch anomalies
Palate (69%) cleft, highly arched, bifurcation uvula
Kidney (31%)
GI
What are postnatal concerns for children with 22q
Feeding difficulties, immunodeficiency, hypocalacemia, learning disabilities, delays, ID
How often is 1p36 deletion syndrome inherited
20% from parent with balanced translocation
What ultrasound findings are associated with 1p36 deletion syndrome
Brain anomalies, microcephaly, heart defects, GI, GU, skeletal
What concerns do children with 1p36 deletion syndrome have
Hypotonia (95%), feeding difficulties, severe ID, behavioral problems, delays, may never speak, seizures, hearing loss, vision problems
What causes cri du chat syndrome
Deletion on the short arm of chromosome 5
What ultrasound findings are associated with cri du chat syndrome
Microcephaly, heart defects, cleft lip/palate
What is the postnatal prognosis for children with cri du chat syndrome
Typical life expectancy
Hypotonia, moderate to severe ID, low birth weight feeding difficulties
For Angelman & Prader Willi, which is caused by maternally expressed genes & which is caused by paternally expressed genes
Prader willi: caused by loss of function to paternally expressed genes
Angelman: caused by loss of function to maternally expressed genes
15q11.2-13
Deletions 70% of time for both
What findings are associated with Angelman syndrome pre & postnatally
Normal prenatal course, no major birth defects
Usually after one year of age : severe delays & ID, severe speech impairment, movement or balance disorder, relative microcephaly, seizures, feeding difficulties & hypotonia
What findings are associated with Prader willi syndrome pre & postnatally
Normal prenatal course, potentially reduced fetal movement
Severe hypotonia & feeding issues, excessive eating, behavioral, global delays, mild ID, hypogonadism
Which method of NIPT can detect uniparental disomy
SNP based method in theory, counting method can only do deletions
What causes wolf hirschhorn syndrome
4p deletion
50-60% de novo pure deletion
40-45% unbalanced translocation with partial trisomy involving another chromosome
What findings are associated with wolf hirschhorn syndrome pre & postnatally
Prenatal: IUGR or SGA, congenital heart defects, urinary tract malformations, brain abnormalities
Postnatal: delays & ID, seizures, feeding difficulties, failure to thrive, hypotonia
Some need lifelong tube feeding
What is the carrier frequency for SMA
1 in 40-60
What is the carrier frequency of smith lemli opitz
1 in 43 in AJ, 1 in 54 Northern Europeans
What gene is affected in smith lemli opitz
DHCR7
What ultrasound findings are associated with smith lemli opitz
IUGR, heart defects, polydactyl, syndactly, ambiguous genitalia, cleft palate, microcephaly
What is the prognosis for smith lemli opitz
Depends on severity of birth defects
ID, learning disabilities, autism, growth restriction, hypotonia, feeding difficulties
What causes galsctosemia & what is the carrier frequency
Mutations in the GALT gene, 1 in 156
What findings are sssocisted with galactosemia postnatally
Feeding difficulties & failure to thrive - need to switch to lactose restricted diet, risk for sepsis, developmental, delays
What is the gene & carrier frequency for autosomal recessive polycystic kidney disease
PKHD1, 1 in 70
What are US findings associated with autosomal recessive polycystic kidney disease
Echogenic, enlarged kidneys, oligo hydramnios, empty bladder, risk for pulmonary hypoplasia or potter sequence
What is the postnatal prognosis for autosomal recessive polycystic kidney disease
Many need dialysis or transplant, 30% pass away in the first year of life, long term survival greater than 80% if live past one year
What gene causes PKU & what is the carrier frequency
PAH, 1 in 50
What is the postnatal prognosis for PKU
good with special diet, without: significant ID, behavioral, epilepsy, musty body odor
What gene causes tay sachs disease & what is the carrier frequency for the ashkenazi Jewish population
HEXA, 1 in 30 AJ
What are the US findings & post natal prognosis for Tay sachs disease
No US findings
No concerns immediately after birth, start to lose skill 3-6 months after birth, 2-5 years, or later in teens or adulthood
Hypotonia, seizures starting around one year, death may occur by age five, childhood to adolescence or long term
What gene causes achondroplasia & is it typically de novo or inherited
FGFR3
80% de novo
What are US findings, & what is the postnatal prognosis for achondroplasia
US findings: short long bones, macrocephaly, trident configuration of hands
Postnatal: hypotonia, can lead to some delays, normal intelligence & lifespan
What gene causes thanatophoric dysplasia & what US findings are associated
FGFR3
Short long bones, increased NT, IUGR, well ossified spine / skull, small chest cavity with short ribs, bowed femurs, cloverleaf skull, polyhydramnios, brain anomalies, relative macrocephaly
What is the prognosis for thanatophoric dysplasia
Generally considered lethal, usually die from respiratory insufficiency shortly after birth
What genes cause OI & what are the US findings
COL1A1 & COL1A2, somatic mosaicism present in 26% families
Fractures or bone deformity, short long bones, reduced skill mineralization, platyspondyl, small beaded ribs
What is the postnatal prognosis for OI
Depends on type, can be lethal after birth or have normal lifespan
Avoidance of excessive fractures, may have delays
What gene causes CHARGE syndrome & what are the associated findings & prognosis
CDH7
Heart defects, choanal atresia, tracheoesophageal fistula or atresia, ear malformations, delays or ID, hypogonadotroic hypogonadism, growth delays
Mortality can be high in early childhood due to birth defects, normal life expectancy
What ultrasound findings are associated with Noonan syndrome & what is the postnatal prognosis
Heart defect, increased NT, polyhydramnios, relative macrocephaly, renal defects
Delays or ID, hypotonia & feeding problems, abnormal bleeding
What genes cause tuberous sclerosis & how many are de novo
TSC1 & TSC2
Two thirds are de novo
What ultrasound findings are associated with tuberous sclerosis
Cardiac rhabdomyomas, renal cysts, brain findings late in pregnancy
What is the postnatal prognosis for tuberous sclerosis
Seizures, tsc associated neuropsychiatric disorder, autism spectrum , ADHD, learning disabilities
What gene causes duchenne muscular dystrophy & what are the ultrasound findings
DMD ( x linked)
No ultrasound findings
What is the postnatal prognosis for duchenne muscular dystrophy
Motor delays, weakness, gait abnormalities, progressive, cardiomyopathy by age 18
What findings are seen in Potter sequence, what are genetic causes, & what is the prognosis
Typically sporadic, can be seen with ARPKD
Main cause bilateral renal agenesis
> oligohydramnios
> pulmonary hypoplasia & distinctive facial features: recessed chin, flat nasal bridge, hypertelorism, low set ears that lack cartilage, epicanthal fold
Many babies do not survive
What findings are associated with VACTERL & what is the prognosis
Vertebral defects, anal atresia, cardiac, tracheoesophageal atresia, renal, limb, polyhydramnios, single umbilical artery
Prognosis depends on effects present
What are counseling issues with fragile x
Fragile x associated conditions possible in parent, parental guilt, recurrence risk, uncertainty of phenotype in females
What are counseling issues with duchenne muscular dystrophy
Becker has later onset, parental guilt, female carriers at risk for cardiomyopathy
What are counseling issues with cystic fibrosis
Recurrence risk, fertility concerns for affected males, genotype phenotype correlations
What is a counseling issue to discuss with thanatophoric dysplasia
Increased risk for pregnancy complications, like pre term labor or c section
