Other Conditions

Question 1

How often is 22q inherited

Answer 1

10%

Question 2

What ultrasound findings are associated with 22q

Answer 2

Heart defects (74%) VSD, tetralogy of fallot, aortic arch anomalies
Palate (69%) cleft, highly arched, bifurcation uvula
Kidney (31%)
GI

Question 3

What are postnatal concerns for children with 22q

Answer 3

Feeding difficulties, immunodeficiency, hypocalacemia, learning disabilities, delays, ID

Question 4

How often is 1p36 deletion syndrome inherited

Answer 4

20% from parent with balanced translocation

Question 5

What ultrasound findings are associated with 1p36 deletion syndrome

Answer 5

Brain anomalies, microcephaly, heart defects, GI, GU, skeletal

Question 6

What concerns do children with 1p36 deletion syndrome have

Answer 6

Hypotonia (95%), feeding difficulties, severe ID, behavioral problems, delays, may never speak, seizures, hearing loss, vision problems

Question 7

What causes cri du chat syndrome

Answer 7

Deletion on the short arm of chromosome 5

Question 8

What ultrasound findings are associated with cri du chat syndrome

Answer 8

Microcephaly, heart defects, cleft lip/palate

Question 9

What is the postnatal prognosis for children with cri du chat syndrome

Answer 9

Typical life expectancy

Hypotonia, moderate to severe ID, low birth weight feeding difficulties

Question 10

For Angelman & Prader Willi, which is caused by maternally expressed genes & which is caused by paternally expressed genes

Answer 10

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

Question 11

What findings are associated with Angelman syndrome pre & postnatally

Answer 11

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

Question 12

What findings are associated with Prader willi syndrome pre & postnatally

Answer 12

Normal prenatal course, potentially reduced fetal movement

Severe hypotonia & feeding issues, excessive eating, behavioral, global delays, mild ID, hypogonadism

Question 13

Which method of NIPT can detect uniparental disomy

Answer 13

SNP based method in theory, counting method can only do deletions

Question 14

What causes wolf hirschhorn syndrome

Answer 14

4p deletion
50-60% de novo pure deletion
40-45% unbalanced translocation with partial trisomy involving another chromosome

Question 15

What findings are associated with wolf hirschhorn syndrome pre & postnatally

Answer 15

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

Question 16

What is the carrier frequency for SMA

Answer 16

1 in 40-60

Question 17

What is the carrier frequency of smith lemli opitz

Answer 17

1 in 43 in AJ, 1 in 54 Northern Europeans

Question 18

What gene is affected in smith lemli opitz

Answer 18

DHCR7

Question 19

What ultrasound findings are associated with smith lemli opitz

Answer 19

IUGR, heart defects, polydactyl, syndactly, ambiguous genitalia, cleft palate, microcephaly

Question 20

What is the prognosis for smith lemli opitz

Answer 20

Depends on severity of birth defects

ID, learning disabilities, autism, growth restriction, hypotonia, feeding difficulties

Question 21

What causes galsctosemia & what is the carrier frequency

Answer 21

Mutations in the GALT gene, 1 in 156

Question 22

What findings are sssocisted with galactosemia postnatally

Answer 22

Feeding difficulties & failure to thrive - need to switch to lactose restricted diet, risk for sepsis, developmental, delays

Question 23

What is the gene & carrier frequency for autosomal recessive polycystic kidney disease

Answer 23

PKHD1, 1 in 70

Question 24

What are US findings associated with autosomal recessive polycystic kidney disease

Answer 24

Echogenic, enlarged kidneys, oligo hydramnios, empty bladder, risk for pulmonary hypoplasia or potter sequence

Question 25

What is the postnatal prognosis for autosomal recessive polycystic kidney disease

Answer 25

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

Question 26

What gene causes PKU & what is the carrier frequency

Answer 26

PAH, 1 in 50

Question 27

What is the postnatal prognosis for PKU

Answer 27

good with special diet, without: significant ID, behavioral, epilepsy, musty body odor

Question 28

What gene causes tay sachs disease & what is the carrier frequency for the ashkenazi Jewish population

Answer 28

HEXA, 1 in 30 AJ

Question 29

What are the US findings & post natal prognosis for Tay sachs disease

Answer 29

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

Question 30

What gene causes achondroplasia & is it typically de novo or inherited

Answer 30

FGFR3 | 80% de novo

Question 31

What are US findings, & what is the postnatal prognosis for achondroplasia

Answer 31

US findings: short long bones, macrocephaly, trident configuration of hands Postnatal: hypotonia, can lead to some delays, normal intelligence & lifespan

Question 32

What gene causes thanatophoric dysplasia & what US findings are associated

Answer 32

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

Question 33

What is the prognosis for thanatophoric dysplasia

Answer 33

Generally considered lethal, usually die from respiratory insufficiency shortly after birth

Question 34

What genes cause OI & what are the US findings

Answer 34

COL1A1 & COL1A2, somatic mosaicism present in 26% families | Fractures or bone deformity, short long bones, reduced skill mineralization, platyspondyl, small beaded ribs

Question 35

What is the postnatal prognosis for OI

Answer 35

Depends on type, can be lethal after birth or have normal lifespan Avoidance of excessive fractures, may have delays

Question 36

What gene causes CHARGE syndrome & what are the associated findings & prognosis

Answer 36

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

Question 37

What ultrasound findings are associated with Noonan syndrome & what is the postnatal prognosis

Answer 37

Heart defect, increased NT, polyhydramnios, relative macrocephaly, renal defects Delays or ID, hypotonia & feeding problems, abnormal bleeding

Question 38

What genes cause tuberous sclerosis & how many are de novo

Answer 38

TSC1 & TSC2 | Two thirds are de novo

Question 39

What ultrasound findings are associated with tuberous sclerosis

Answer 39

Cardiac rhabdomyomas, renal cysts, brain findings late in pregnancy

Question 40

What is the postnatal prognosis for tuberous sclerosis

Answer 40

Seizures, tsc associated neuropsychiatric disorder, autism spectrum , ADHD, learning disabilities

Question 41

What gene causes duchenne muscular dystrophy & what are the ultrasound findings

Answer 41

DMD ( x linked) | No ultrasound findings

Question 42

What is the postnatal prognosis for duchenne muscular dystrophy

Answer 42

Motor delays, weakness, gait abnormalities, progressive, cardiomyopathy by age 18

Question 43

What findings are seen in Potter sequence, what are genetic causes, & what is the prognosis

Answer 43

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

Question 44

What findings are associated with VACTERL & what is the prognosis

Answer 44

Vertebral defects, anal atresia, cardiac, tracheoesophageal atresia, renal, limb, polyhydramnios, single umbilical artery Prognosis depends on effects present

Question 45

What are counseling issues with fragile x

Answer 45

Fragile x associated conditions possible in parent, parental guilt, recurrence risk, uncertainty of phenotype in females

Question 46

What are counseling issues with duchenne muscular dystrophy

Answer 46

Becker has later onset, parental guilt, female carriers at risk for cardiomyopathy

Question 47

What are counseling issues with cystic fibrosis

Answer 47

Recurrence risk, fertility concerns for affected males, genotype phenotype correlations

Question 48

What is a counseling issue to discuss with thanatophoric dysplasia

Answer 48

Increased risk for pregnancy complications, like pre term labor or c section