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Prenatal > Other Conditions > Flashcards

Other Conditions Flashcards

1
Q

How often is 22q inherited

A

10%

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2
Q

What ultrasound findings are associated with 22q

A

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

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3
Q

What are postnatal concerns for children with 22q

A

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

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4
Q

How often is 1p36 deletion syndrome inherited

A

20% from parent with balanced translocation

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5
Q

What ultrasound findings are associated with 1p36 deletion syndrome

A

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

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6
Q

What concerns do children with 1p36 deletion syndrome have

A

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

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7
Q

What causes cri du chat syndrome

A

Deletion on the short arm of chromosome 5

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8
Q

What ultrasound findings are associated with cri du chat syndrome

A

Microcephaly, heart defects, cleft lip/palate

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9
Q

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

A

Typical life expectancy

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

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10
Q

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

A

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

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11
Q

What findings are associated with Angelman syndrome pre & postnatally

A

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

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12
Q

What findings are associated with Prader willi syndrome pre & postnatally

A

Normal prenatal course, potentially reduced fetal movement

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

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13
Q

Which method of NIPT can detect uniparental disomy

A

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

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14
Q

What causes wolf hirschhorn syndrome

A

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

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15
Q

What findings are associated with wolf hirschhorn syndrome pre & postnatally

A

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

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16
Q

What is the carrier frequency for SMA

A

1 in 40-60

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17
Q

What is the carrier frequency of smith lemli opitz

A

1 in 43 in AJ, 1 in 54 Northern Europeans

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18
Q

What gene is affected in smith lemli opitz

A

DHCR7

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19
Q

What ultrasound findings are associated with smith lemli opitz

A

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

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20
Q

What is the prognosis for smith lemli opitz

A

Depends on severity of birth defects

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

21
Q

What causes galsctosemia & what is the carrier frequency

A

Mutations in the GALT gene, 1 in 156

22
Q

What findings are sssocisted with galactosemia postnatally

A

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

23
Q

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

A

PKHD1, 1 in 70

24
Q

What are US findings associated with autosomal recessive polycystic kidney disease

A

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

25
Q

What is the postnatal prognosis for autosomal recessive polycystic kidney disease

A

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

26
Q

What gene causes PKU & what is the carrier frequency

A

PAH, 1 in 50

27
Q

What is the postnatal prognosis for PKU

A

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

28
Q

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

A

HEXA, 1 in 30 AJ

29
Q

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

A

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

30
Q

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

A

FGFR3

80% de novo

31
Q

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

A

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

32
Q

What gene causes thanatophoric dysplasia & what US findings are associated

A

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

33
Q

What is the prognosis for thanatophoric dysplasia

A

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

34
Q

What genes cause OI & what are the US findings

A

COL1A1 & COL1A2, somatic mosaicism present in 26% families

Fractures or bone deformity, short long bones, reduced skill mineralization, platyspondyl, small beaded ribs

35
Q

What is the postnatal prognosis for OI

A

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

36
Q

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

A

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

37
Q

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

A

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

38
Q

What genes cause tuberous sclerosis & how many are de novo

A

TSC1 & TSC2

Two thirds are de novo

39
Q

What ultrasound findings are associated with tuberous sclerosis

A

Cardiac rhabdomyomas, renal cysts, brain findings late in pregnancy

40
Q

What is the postnatal prognosis for tuberous sclerosis

A

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

41
Q

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

A

DMD ( x linked)

No ultrasound findings

42
Q

What is the postnatal prognosis for duchenne muscular dystrophy

A

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

43
Q

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

A

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

44
Q

What findings are associated with VACTERL & what is the prognosis

A

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

45
Q

What are counseling issues with fragile x

A

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

46
Q

What are counseling issues with duchenne muscular dystrophy

A

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

47
Q

What are counseling issues with cystic fibrosis

A

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

48
Q

What is a counseling issue to discuss with thanatophoric dysplasia

A

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

Prenatal (13 decks)

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