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Oral Board Note cards > Genetics/Fetal Anomalies > Flashcards

Genetics/Fetal Anomalies Flashcards

1
Q

Risk factors ONTD/exencephaly

A

Occurs due to failure of anterior neural groove to close at 10-20 days post ovulation

Folic acid deficiency
DM
Anti-epileptic
Obesity
MTX
Valproic acid
Carbamazepime
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2
Q

Differential diagnosis exencephaly-anencephaly

A

Amniotic band syndrome
Microcephaly
Encephalocele
Atelecephaly

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3
Q

Genetics of exencaphaly

Recurrence risk

Prevention

A

2%- Trisomy 21/18/13, triploidy

2-5% recurrence

Folic acid 4 mg reduces recurrence by 70%

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4
Q

Exencaphaly-associated anomalies

A 
ONTD 27%
Cleft lip/palate -10%
Polyhydramnios 
Echogenic fluid
Pituitary failure leads to no spontaneous labor
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5
Q

Encephalocele differential diagnosis

A 
Hemangioma
Nuchal tumors
Cephalohematoma
Cystic teratoma or hygroma
Scalp edema
Branchiogenic cysts
Amniotic bands syndromes

Skin covered so normal AFP

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6
Q

Encephalocele associated anomalies

A 
Microcephaly 25%
Chiari 2-30%
Ventriculomegaly 70-80%
Spine
Absent CSP
Cerebellar cortical dysplasia
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7
Q

Encephalocele genetics

A

Chromosomal anomaly 7%
Trisomy 13/18, triploidy
AR syndromes: Walker-Warburg, Knobloch, Meckel Gruber (28%)

Mortality 80%

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8
Q

Syndromes with alobar holoprosencephaly

Recurrence risk

A 
T13 MC
T18, monosomy 21, triploidy
Uncontrolled DM
SLO
Meckel Gruber
aicardi
Velo-cardio-facial sundrome

If normal karyotype then 6% recurrence risk

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9
Q

Lobar Holoprosencephaly US findings

A

Thalami not fused
Corpus callosum present but not fully formed
Abnormal pericallosal artery course
Absent CSP

-

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10
Q

Hydrancephaly

Findings

Diff Dx

A

Lethal
Fluid filled cranium due destruction of cortical tissue
Falx, thalami and posterior fossa normal
-destruction of cerebral hemispheres in carotid artery distribution
85% mortality
Associated with Fowler syndrome (AR, ischemic brain lesions, akinesia)

Diff Dx: alobar HPE, aqueductal stenosis, large schizencephaly

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11
Q

Agenesis of corpus callosum

Associated anomalies

Genetics

A 
60% have associated anomalies 
Dandy-Walker
Chiari 2
Encephalocele
Midline facial anomalies

*3% all ventriculomegaly have ACC

If isolated 15% have anomalies found at birth

MRI may clarify diagnosis

17% chromosomal anomalies
T18/13
Dandy-Walker, Meckel-Gruber, Aicardi, Walker-Warburg, AVID complex

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12
Q

Agenesis of corpus callosum

Differential diagnosis

A

*absent pericalosal artery is key finding

Mild ventriculomegaly
Lobar HPE
Septo-optic dysplasia
Destructive lesions of corpus callosum

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13
Q

Absent CSP

A

Normal L to W <1.5

Assess corpus callosum and pericalosal artery

If isolated good outcomes

High rates Septo-optic dysplasia diagnosed postnatally

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14
Q

Absent CSP diff dx

A 
lobar HPE
Ventriculomegaly
Septo-optic dysplasia
ACC
Schizencephaly
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15
Q

Septo-optic dysplasia

A

Hypoplastic optic nerve
Abnormal midline structures-ACC and CSP
Pituitary hypoplasia

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16
Q

Walker-Warburg Syndrome

A

Hydrocephalus
ACC
Micro-ophthalmia/anophthalmia

Fatal in first year of life

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17
Q

Aqueductal Stenosis

Differential diagnosis

Outcomes

A

Hydrocephalus with norm post fossa
Ventricles >15 mm
Dilated 3rd, normal 4th
Maybe be due to infection, hemorrhage, tumor or idiopathic

Diff: hydrancephaly, HPE, chiari 2, encephalomalacia/porencenphaly, x-linked hydrocephalus, MASA, CRASH

10-30% mortality
90% developmental delay
4% recurrence risk (50% if X-linked and make fetus)

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18
Q

Treacher-Collins

A

AD
Small Chin, downward sloping and/or protruding eyes, cleft lip common
Deficient ears

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19
Q

Goldenhor syndrome

A

Oculo auriculo vertebral spectrum
Hemifacial microsomia (Hallmark finding)
2/3 have other anomalies: CHD, GU anomalies, CNS anomalies, musculoskeletal anomalies

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20
Q

Pierre Robin sequence

A

Micrognathia, u-shaped cleft palates, glosssoptosis

Low set ears

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21
Q

Macroglossia causes

A

Idiopathic
T21
Beckwith-Wiedemann
Oral masses

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22
Q

Cystic chest mass differential

A 
CPAM
BPS
CDH
Bronchial obstruction
CHAOS
Teratoma
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23
Q

Fetal intracranial hemorrhage

Causes

US findings

A

TORCH, Coag defect, environment exposure (warfarin, cocaine), immune (NAIT), other (trauma, seizures, sepsis, HELLP)

New: homogenous, echogenic without shadowing
Resolving: heterogeneous, ext echogenic rim, internal sonolucent

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24
Q

Dandy-Walker
Findings

Diff.dx

A

Agenesis vermis, enlarged post fossa, upwards displacement of tentorium > 45 degree from brainstorm to cerebellum, cystic dilation of 4th ventricle

Persistent Blake’s pouch cyst, mega cisterna magna, vermian-cerebellar hypoplasia, Joubert syndrome

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25
Q

Dandy walker prognosis

A 
If isolated with normal vermis better outcome 
Macrocephaly 
Increased ICP
Hypotonia
Poor motor development
Intellectual disability
Schizophrenia and bipolar, depression, impulse control disorders 
60% abnormal neurodevelopmental
40% mortality in childhood
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26
Q

Dandy walker recurrence

A

1-5%

25% if part of AR syndrome

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27
Q

Dandy-Walker chromosomal anomalies

A 
Trisomy 9, 13, 18, 21
Meckel-Gruber
Walker-Warburg Syndrome
Joubert syndrome
PHACES Syndrome (Posterior fossa, hemangioma, arterial anomaly, cardiac malformations, eye malformations)
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28
Q

Sacrococcygeal teratoma

A

MRI better for intra-abdominal extensions
Cystic better than solid (solid MC)
May cause high output heart failure
No genetic association
Upto 40% other anomalies, usually due to mass effect
Tumor.volume ratio=(LxWxDx 0.52)÷EFW, if >0.12 poor prognosis, especially if early
30-50% IUFD, 5% if neonatal diagnosis
Recommend CS if > 5cm

Maternal complications-HEG, PEC/HELLP, mirror syndrome, PTL

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29
Q

Arachnoid cyst
Genetics

Associated anomalies

Diff Dx

A

Mostly sporadic
Syndrome-NF 1, familial single gene mutations, Aicardi syndrome, x-linked
Trisomy if multiple anomalies

Ventriculomegaly, TOF, VSD, cleft lip/palate, omphalocele, short long bones
60% anomalies are CNS

DWM, mega cisterna magna, Blake pouch cyst

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30
Q

Aqueductal stenosis

A

Hydrocephalus with normal post fossa, may mimic hydrancephaly if severe
Choroids may fall through foramen Monroe to cause obstruction.

X-linked (L1CAM) addected thumbs, males
MASA- (MR, aphasia, shuffling gait, addicted thumbs)

Treatment-amnio for microarray and infection, shunt and endoscopic 3rd ventriculostomy

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31
Q

ONTD

outcomes

Diff Dx

A 
80% require VP shunt
25% lower limb dysfunction
17% normal GU function 
Due to neurogenic bladder 30% progress to renal failure and death
33% severe latex allergy

No evidence of placental insufficiency so NSTs not needed

Sacrococcygeal teratoma, isolated scoliosis, body-stalk anomalies

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32
Q

Hemi vertebrae associated syndromes

A

Jarcho-Levin
Klippel-Fiel
OEIS
VACTERL/VATER

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33
Q

CDH

Risk factors

A 
90% left and poster defect
Offer echo and karyotype 
Poly common
LHR <1 poor prognosis (contralateral lung volume)
High risk persistent pulmonary HTN
Observed:expected LHR < 25% few survive
50% associated anomalies
20% genetic anomaly or syndrome

DM, EtOH, smoking, AMA, maternal underweight

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34
Q

CDH associated syndromes

A

Fryn’s (AR, CDH, pulm hypoplasia, coarse facies, hypertelorism, distal digit hypoplasia, CHD)

Cornelia de Lange

Pallister-Killion(mosaic tetrasomy 12p, hypotonia, profound intellectual and speech delay, CDH, seizures, CHD, sacral appendage)

T18

Donnai-Barrow (CDH, hypertelorism prominent and down sloping eyes, depressed nasal bridge, omphalocele)

Beckwith-Wiedemann

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35
Q

CDH fetal therapy

A

Offer if:
LHR <1, liver up

Intra tracheal balloon places before 28 wks out by 34 wks
Decreased surfactant needs and increases lung volumes by trapping fluid into the lungs

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36
Q

Fetal cardiac output

A

RV 55% LV 45%

Ductus arteriosus 40%
Lungs via PA 15%

Brain/ascending aorta 30%
Body/descending aorta 10%
Heart 3%

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37
Q

Ductal dependent lesions

A 
HLHS
Critical AS
Aortic coarc
Pulm or tricuspid atresia
Severe TOF
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38
Q

Pentalogy of Cantrell

Findings

Genetics

Outcomes

A 
Supraumbilical abdominal wall defect
CDH (anterior)
Pericardium defect (ectopic cordis)
Sternal defect/cleft
Intracardiac anomalies (VSD-20%, TOF, ASD-59%, LV diverticulum, Ebsteins)

Assoc.with T18, 45XO, triploidy,

20% survival at birth, overall survival based on cardiac anomalies

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39
Q

VSD

A

Membranous-LVO right below aortic valve (1/3 close spontaneously), 75% all VSDs
Muscular-muscular septum (2/3 close spontaneously), 10-15%
Outlet-RVO below valve (requires surgery)
Inlet-inferior/posterior to membranous beneath tricuspid leaflets

Inlet/outlet more likely to have assoc heart defects

40% have chromosomal, more likely if CHD

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40
Q

AV canal defect

Dx

Genetics

A

Missing crux, normal foramen ovale, gooseneck deformity of LVO

Can be partial or complete, balanced or unbalanced
(Partial has good prognosis, may not need repair for years, T21 does not cause poor prognosis)

T21 (less likely if other anomalies) 50%, T13/18 20-30%

Anomalies: TOF, DORV, left heart obstruction, heterotaxy

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41
Q

Ebstein anomaly

Genetics

Recurrence

A

Apical displacement of septal and posterior tricuspid leaflets causing atrialization of RV

Often tricuspid regurg, may cause arrhythmia which is poor prognosis. (WPW or SVT)

GOSE score: RA +atrialized RV:functional RV +L heart. Higher ratio than higher mortality

Assoc.T21/18
1% recurrence, 6% if mom has

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42
Q

Single ventricle pathway

A
  1. Norwood or Blalock-Taussig shunt (aorta to PA with septostomy or RA.to PA) done in first week for additional PA flow
  2. Glenn, done 4-6 months. SVC to right PA
  3. Fontana at 2-4 yrs, IVC to R pulm conduit (Glenn) fenestration to RA for systemic pop off
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43
Q

Pulmonary stenosis and atresia

A

May cause hypoplastic right heart
Assess for signs of reversed flow in ductus and reversal of pfo

Diff Dx: TOF with Pulm atresia, tricuspid atresia, truncus arteriosus

PA with VSD upto 23% have 22q.11
PS I’m Noonan’s, Williams, Alagille, LEOPARD syndrome

PA no VSD-immediate surgery most need single ventricle, poor prognosis
PA with VSD- also need immediate surgery but more likely to have 2 ventricle repair and higher survival
PS-rule.of 1/3, better if no reversed ductus

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44
Q

HLHS

A

LV hypoplasia with mitral stenosis/atresia, aortic atresia/stenosis and hypoplastic/coarc

LV echogenic due fibroelastosis

15% chromosomal anomaly, MC 45XO then T18/13, Jacobsen syndrome

12% first degree relatives have other cardiac anomalies
20% IUFD and high childhood mortality but unclear number based on old data and new technology

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45
Q

Aortic coarctation

Genetics

Anomalies

A

45XO (35% Turners have coarc)
22q11 (>50% if interrupted arch)

Bicuspid aortic valve (85%)
VSD (35%), MV anomalies (Shone syndrome)
Non cardiac anomalies like thick NT (25%)

Avoid O2 at birth

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46
Q

Total anomalous pulmonary venous return

A

Supracardiac (49%), drains cephalad into vertical vein into inominate vein, abnormal 3VV, obstructed
Cardiac (16%) drains into heart typically into coronary sinus
Intracardiac (26%) drains below diphragm, obstructed
Mixed (9%) variety of drainage sites

If obstructed then no oxygenated blood returns to heart, circulatory collapse at birth

Twig sign- tubular vascular confluence post to atria and anter to descending aorta

33% assoc CHD
Prostaglandins at birth cause increased cardiac return leading to pulm congestion, however in obstructive types allows mixing of oxygenates blood is needed esp if no ASD/VSD. Also tx with NO for pulm vasodilation

If identified and quickly repaired then excellent prognosis

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47
Q

TOF

A

RVOT obstruction (PS or absent PV)
RV hypertrophy
VSD (perimembranous)
Overiding aorta

Absent PV has high mortality
If isolated TOF then good survival

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48
Q

TOF
Maternal risk factors

Fetal genetics

A 
Maternal PKU
Maternal DM
Retinoic acid exposure
EtOH
Rubella
Family history of TOF
45% fetal chromosomal anomalies (T21/18/13, 22q11
CHARGE, VACTERL, Allagile
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49
Q

Maternal PKU

Fetal anomalies

A

FGR-40%
CHD (TOF ,coarc, PDA, HLHS, aortic/pulm stenosis)-12%
Microcephaly-73
Facial dysmorphism-wide flat NB, smooth philtrum, anteverted nares, low set ears
MR-92%

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50
Q

Transposition

A

D: most common, ventricles and outflow tracts do not match. 40% VSD, LVOT obstruction 25%, must repair before LV adapts to low pressure.

L: ventricles and outflow tracts match, ventricles don’t match with atria. 60+% VSD, RVOT obstruction 30-50%. Does not surgically corrected for many years

Diff Dx: DORV-VSD, TOF-VSD

not assoc chromosomal anomaly

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51
Q

Truncus arteriosus

A 
Single truncal valve
VSD
20-30% other anomalies 
21-36% right sided arch
10-20% interrupted arch
40% have 22q11
Assoc.with maternal DM and di-di twins

Diff Dx: pulm Artesia with VSD, TOF, DORV with VSD

Recurrence 1%

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52
Q

DiGeorge

A

CATCH-22 (comotruncal, abn face, thymic hypoplasia, cleft, hypocalcemia, 22q)
22q11 deletion. AD high penetrance with variable expressivity but majority de novo, if de Novo very low recurrence risk.

>70% CHD-truncus and TOF MC
>70% palate anomalies 
70-90% immune deficiency 
50% hypocalcemia
Developmental delay and autism 
25% psych diagnosis
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53
Q

DiGeorge cardiac anomalies

A

TOF, VSD, interrupted arch, truncus arteriosus, vascular ring, ASD, ASD/VSD

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54
Q

Gastroschisis

A 
Simple MC
Norm CI
Dilation if >7mm
Intra-abdominal dilation >14 mm high risk for atresia 
Oligo>poly
Evaluate superior mesenteric artery
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55
Q

Gastroschisis
Outcome
Recurrence

A 
If simple close to 100% survival, complex 25-50% mortality 
IUFD-5%
IUGR-25%
atresia 15%
10-20% non GI anomalies

1% recurrence risk

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56
Q

Omphalocele

Etiology

A

Lack of continuous folding causing failure of umbilical ring closure

Or
Failure of resolution of physiologic herniation

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57
Q

Omphalocele

Genetics

Associated anomalies

A

MC has bowel and liver
Small more likely to have aneuploidy
30% anomalies- MC CHD and CDH
40% GI defects
30-40% aneuploidy (T18 MC, 13/21, triploidy), higher if liver not involved or anomalies present
Syndromes:
Beckwith-Wiedemann (imprinting 11), pentalogy, cloacal, OEIS, Pallister-Killion

If no other.anomalies/aneuploidy then 80-90% survival

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58
Q

Duodenal atresia

A

Able to connect stomach and duodenum on US
Stomach/duodenum dilated
Poly
Echogenic bowel
Esophageal atresia of present
Other anomalies: 30% CHD, skeletal anomalies, GU anomalies
30% T21, higher is esophageal atresia

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59
Q

Urinary tract dilation

General

Diff dx

Poor prognosis

A

1-2% all pregnancies
If mild usually transient, mod/sev more likely to persist
Assoc.with T21 LR 1.1

UPJ obstruction vs LUTO

Voiding cystourethrogram after 48 hrs of life, earlier dehydration cause.false neg

Bilateral, solitary kidney affected, early oligo, non-GU anomalies

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60
Q

Unilateral renal agenesis

A

L>R, 50% develop HTN
Contralateral hypertrophy must be present
Diff Dx: pelvic or horseshoe kidney, aplastic kidney, ectopic fused kidney
Assoc: SUA, VACTERL, T21, 45XO, 22q11, mullerian anomalies

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61
Q

Duplicated collecting system diagnosis

A

Upper pole commonly obstructs and is dilated, ectopic ureter with urinoma

Lower pole prone to reflux, normal anatomy

Kidneys different sizes

F>M
No genetics

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62
Q

Duplicated collecting system diff dx

A

UPJ obstruction, ureterocele
Severe reflux
Congenital megaureter
Multicystic dysplastic kidney

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63
Q

Duplicated collecting system treatment

A

Identify location of ectopic ureter, not always in bladder
Prenatal urology consult
Prophylactic antibiotic
Voiding cystourethrogram
Postnatal incision I’m ureterocele, reimplantation

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64
Q

Bilateral renal agenesis

A

Diagnose by 16 wks
3% recurrence
14% CHD

Trisomy 7, 10, 21, 22
Syndromes: brancho-oto-renal dysplasia, cerebro-ocxulo-facial syndrome, VACTERL

33% liveborn

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65
Q

Multicystic dysplastic kidney

A

Multiple, non communicating cysts
Minimal normal tissue
Enlarged, echogenic kidneys
20% bilateral

5-40% contralateral renal anomaly

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66
Q

Multicystic dysplastic kidney

Diff Dx

Prognosis

Genetics

A

UPJ obstruction, ARPKD, obstructive cystic displasia

Bilateral-lethal
Unilateral-surgical resection rarely needed, contralateral hypertrophy and HTN, rarely develop Wilms

Meckel-Gruber, T13 and 18

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67
Q

ARPKD

A

Hepatorenal fibrocystic disease
Single gene disorder, b/l symmetric cystic disease and hepatic fibrosis

US: kidney >2SD, may have cysts, if severe then oligo, no bladder and pulm hypoplasia

Offer genetic testing and TOP
Monitor AC for delivery planning

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68
Q

ARPKD diff dx

A 
Trisomy 13
Meckel-Gruber
Beckwith-Wiedemann
B/L multicystic dysplastic kidneys
ADPKD
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69
Q

ARPKD prognosis

A

High survival
Average age renal failure 4yo
75% HTN
50% transplant by 20 yo

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70
Q

Adrenal hemorrhage

A

Sonolucent->echogenic ->liquefies becomes complex
Doppler shows vascular ring with no internal flow

Seen with Beckwith-Wiedemann

Diff Dx: neuroblastoma, extra lobar BPS, renal mass
Right vessels drain to IVC, higher pressure, more likely to bleed than adults
May cause anemia
Most resolve spontaneously
Outcome based on cause

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Perfectly
71
Q

Bladder exstrophy

A

Failure of lower abdominal wall closure
May be part of exstrophy epispadias complex

US: no bladder with normal AFI, soft tissue mass on lower abdomen, CO low, may be into mass.

May cause.genital abnormalities, need NIPS for sex

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72
Q

Bladder exstrophy

Genetics

Anomalies

Repair

A

Smoking
Trisomy 13/21

Spinal anomalies and inguinal hernias

Male: epispadias, short split penis, cryptorchidism
Female: cleft clitoris, didelphys, duplicated vagina

Ab wall closure, urinary continence with preserves renal function, cosmetic genital reconstruction

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73
Q

CAH

A

90% 21 hydroxylase deficiency
5% 11 or 17 hydroxylase deficiency
-no cortisol production causes enlarged adrenal gland
-no aldosterone production causes low Na, high K
-shifts steroids to DHT

AR,
46XX: fused labia, clitoral megaly, infertility, ovarian adrenal rest tumors
46XY: enlarged penis

NIPS for CYP1A2 by 6 wks(?)

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74
Q

Diff Dx DSD

A

Table

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75
Q

DSD testing

A

Amnio with FISH for X, Y, SRY
Karyotype microarray
7 dehydroxycholesterol (SLO)
21 hydroxylase gene (CAH)

Postnatal: electrolytes, glucose, cholesterol, 17-hydroxyketosteroids

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76
Q

SLO

A 
AR-single gene disorder, 7 dehydroxycholesterol reductase deficiency 
Very low estriol
Early onset severe FGR
Microcephaly
Vermis hypoplasia
2,3 syndactyly (toes)-can mimic sandal gap
Polydactyly
V shaped mouth
Micropenis, hypospadia
Small, Upturned nose
Absent CSP
Cognitive delay
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77
Q

Ambiguous genitalia diff dx

A

CAH
Micropenis
Hypospadia

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78
Q

Abdominal cyst diff Dx

A

Urachal cysts (ant abdominal wall, connects bladder to umbilical cord)
Ovarian cyst: HPOA not active before 30 wks so not seen until third trimester
Enteric duplication cyst: thick walled, hyperechoic mucosa and hypoechoic wall (gut signature)
Mesenteric cyst: unilocular/multilocular, may be large, slides around bowel
Meconium pseudocyst: thick, irregular wall, peritoneal calcification

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79
Q

Rhizomelic bowing

A

Thanatophoric.type 1
Short rib polydactyly
Cleidocranial dysplasia
Ellis van crevld

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80
Q

Rhizomelic straight bones

A

Thanatophoric type 2
Cleidocranial dysplasia
Jarcho-Levin

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81
Q

Mesomelic bowing

A

OI 1 and 3

82
Q

Mesomelic straight

A

Achondrogenesis 1A and 1B

OI 3

83
Q

Micromelic bowing

A 
Hypochondeoplasia
Jarcho-Levin
OI 3
Short rib polydactyly
Spondylo epiphyseal dysplasia
84
Q

Micromelic straight

A

Femoral hypoplasia unusual facies

Diatrophic dysplasia

85
Q

Normal head size and mineralization skeletal dysplasia

A

Achondrogenesis 1A/1B
OI 2
Hypophosphatemia
Cleidocranial dysplasia

86
Q

Macrocephaly skeletal dysplasia

A

Thanatophoric type 1/ 2
Jarcho-Levin
Achondroplasia

87
Q

MC lethal skeletal dysplasia

A

Thanatophoric
OI 2
Achondroplasia

88
Q

Ossification timeline

A

12 wk: clavicle, mandible, ileum, scapula, long bones, thoracic/lumbar vertebrae

16 wks: metatarsal and metacarpal, cervical/sacral vertebrae

24 wks: talus and calcaneus

89
Q

Lethal ratio

A 
Femur:ft =1
TC:AC <0.7
Ribs <70%
Short thoracic length 
Heart:TC >50%
Bell shaped thorax 
FL:AC <0.16
TC <5% at 4 chamber level
90
Q

Achondrogenesis/hypochondrogenesis

A

Lethal due to failure of cartilaginous matrix
Three sub types

US: lack of vertebral ossification, severe micromelia, disproportionately large head with normal ossification, small thorax, short fractures ribs, cystic hygroma, severe poly, hydrops, micrognathia, midface hypoplasia

91
Q

Achondrogenesis type 1A

A

Poorly ossified skull, unossified spine, short ribs with fractures, rare occipital encephalocele

Diagnosis: pathognomonic acid Schiff+ intracytoplasmic inclusion bodies

92
Q

Achondrogenesis type 1B

A

Decreased ossification skull and spine
No rib fractures
Mutations in diastrophic dysplasia sulfate transporter gene SLC26A2
Diagnosis with decrease type 2 collagen

93
Q

Achondrogenesis type 2 (hypochondrogenesis)

A

Normal skull ossification, decreased ossification in spine
Cleft soft palate
Structurally abnormal type 2 collagen, increased type 1 collagen

94
Q

Achondrogenesis diff dx

A 
Hypophosphatasia
OI
Atelosteogenesis II
Homozygous achondroplasia
Thanatophoric
Short rib polydactyly
95
Q

Achondroplasia

US findings

A

FGFR3 gain of function mutation
80% de Novo can be AD
Rhizomelic shortening, large head, frontal bossing, midface hypoplasia, short same length digits with Trident hands

No micromelic, small chest or severe poly

Homozygous lethal

Increased risk of SIDS

Treatment: limb lengthening and straightening, cervicomedullary decompression for spinal stenosis, bracing and spinal fusion

If maternal then need CS

96
Q

Achondroplasia diff dx

A 
Hypochondroplasia
Thanatophoric dysplasia
Homozygous achondroplasia
OI type 2
Pseudo achondroplasia
Spondylo epiphyseal dysplasia
97
Q

Amelia syndromes

A 
Roberts (90% tetraphocomelia)
Tetra-amelia
Isolated phocomelia or Amelia
Amniotic bands
Thrombocytopenia-absent radius syndrome 
Thalidomide
98
Q

Micromelic syndromes

A 
Achondrogenesis
Atelosteogenesis
Fibrochondrogenesis
Short rib polydactyly
OI 2
Diastrophic dysplasia
99
Q

Atelosteogenesis

A 
Rhizomelic shortening
Disproportionately shortened and tapered humeri
Flattened midface
Type 2 hitchhikers thumb (AR)
Type 1 and 3-AD
Mild to lethal
100
Q

Encephalomalacia

A

Regional brain parenchyma damage
Ventriculomegaly often first clue
Hydrocephalus, periventricular white matter echogenicity and leukomalacia

Caused by hypotension, hypoxia, drug us, infection, vit a exposure, NAIT

101
Q

MOMS trial

A

Lower death, VP shunt and hindbrain herniation at 12 mo

Increased independent ambulation, neurodevelopment and higher functional level

Complications
PTD, chorion-amnion separation, PPROM, oligo, abruption, pulm edema, risk dehiscence

102
Q

Right atrial isomerism

Heyterotaxy

A 
Asplenia, 
Bilateral right sidedness with bilateral SVC
Dextrocardia, bilateral tri lines lungs 
2 SA nodes causes SVT
TAPVR, common atria/ASD
Comotruncal abnormality (DORV, PS, TGA)
103
Q

Left sided isomery

Heterotaxy

A 
Polysplenia
Bilateral left sidedness with b/l SVC
Dextrocardia, interrupted IVC
Partial anomalous pulm venous return
Bilateral bilobed lungs, no SA node causes block
Malrotation of intestines
104
Q

Heterotaxy

A

Situs not solitus or inversus
Large midline liver
Know genetic causes including AD and X-linked
Assoc with primary ciliary dyskinesia and assoc resp complications

105
Q

DORV

A

40% TOF type -subaortic VSD, PS (Ao is R and post to PA)
20% TGA type- subpulm VSD (Ao is R and ant to PA)
15% VSD type- subaortic VSD with PS
10% doubly committed VSD

PS in 50% cases

40% aneuploidy T13/18/21
CHARGE, DM

Good outcome if isolated and normal genetics

106
Q

Hypertrophic Cardiomyopathy

A

Thickened, non dilated LV, asymmetric with septum MC
No other anomalies
Norm to hyperdynamic function, if decompensate then reversed flow in ductus
Outcome based on etiology, overall 18% survival at 1 yr
If DM or TTTS improves with delivery/laser
Familial 1% death/year

107
Q

Dilated cardiomyopathy

A

Dilated, low systolic function
Common final pathway of many conditions
No other anomaly
Look for valvular disease, TTTS, TRAP, AV malformations, tumors, infections

108
Q

Rhabdomyoma

A

Congenital hamartoma
75% have tuberous sclerosis -2/3 de Novo mutation
May cause.arrhythmia
If.small may appears as wall thickening
Growth in 2nd/3rd trimester
May regress PP, if no dysfunction 6mo PP then good outcome

109
Q

Tuberous sclerosis

A

Seizures, low IQ, cutaneous angiofibroma
Overall survival 20% at 9.yo due to CNS tumors
Testing is not microarray, targeted for TS

110
Q

Campomelic dysplasia

A 
AD
Severe bowed long bones
Male to female sex reversal mutation in SRY
No fractures 
Hypoplastic scapula
Can be lethal.due to pulm hypoplasia
111
Q

OI

A

CT disorder, osteoporosis and fractures
90% due to abnormal type 1 collagen
Mutation in Col1A1/2

Type 1,4,5: mild to mod
Type 2,3: lethal

112
Q

OI type 1

A 
AD
Normal to slight low life expectancy
Non deforming, blue sclerae 
Rare fractures at birth, bone fragility decreases with age
May have abnormal teeth
Hearing loss
Wormian bones in skull
113
Q

OI type 2

A 
AD and AR
Perinatal lethal
Dark blue sclerae
"Beaded" ribs
Severe limb shortening
Demineralization of the skull
114
Q

OI type 3

A 
AD and AR
Progressively deforming 
Multiple fractures at birth with progressive limb shortening
Spinal cord compression
Shortened life span
115
Q

Maternal OI

A

Increased atony, bruising and bleeding
Increased back pain and difficult ambulation
Risk for.PTD
If short stature.may have restrictive lung disease
Maternal echo to eval aorta
Offer elective cesarean, but no fetal benefit

116
Q

Short rib polydactyly

A

Short tubular bones (micromelic)
Short ribs with constricted thorax
Thick NT
+/- polydactyly or visceral anomalies

Highly variable phenotype
AR

117
Q

Thanatophoric dysplasia

A

Type 1: telephone receiver femurs, micromelic, bowing. Norm ossification, no fractures. Macrocephaly, hypoplastic midface, frontal bossing
Poly, severe kyphosis. Lethal due to pulm hypoplasia

Type 2: cloverleaf skull. Femurs longer and straighter. Similar to.type 1.

Low recurrence risk
Assoc advanced paternal age

Amnio for FGFR3 mutations

118
Q

Clubfoot

A

Other anomalies (ONTD, musculoskeletal/Neuro, severe oligo, arthrogryposis)

Complex clubfoot 10-30% genetics: T18/13, triploidy, 22q11
Isolated club foot 2% aneuploidy 0

10% diagnosed in utero are norm postnatal
4% isolated have anomalies found at birth

MC in males

119
Q

Radial ray malformations

A

Absent/hypoplastic radius, radial carpal bones and thumb. 50% bilateral.
Radial deviation of the hand, fixed wrist joint

Diff Dx: VACTERL, T18, DM embryopathy, valproic acid exposure, thrombocytopenia absent radius ayndrome

AD or AR

Echo recommended
Test for aneuploidy and thrombocytopenia (cordocentesis), test mom for DM

120
Q

Acrocentric chromosomes

A

13,14,15,21,22

Robertsonian translocation MC passed on if mom.than dad

121
Q

X-linked recessive

A

Male>female, man transmits to all daughters, mom transmits to 50% sons

May act dominant due to x inactivation

122
Q

X-linked dominant

A

Female heterozygote 50% to all offspring

No male to male transmission

123
Q

Genetic terms

A

Locus heterogeneity -different genes can cause similar phenotypes
Polygenic inheritance -multiple genes add together to make phenotype
Multifactorial inheritance- environment+genes
Variable expressivity-singlw mutation can cause range of severity
Penetrance-silent carrier of AD condition

124
Q

X-linked

A 
Hemophilia A
Fragile X
Duchenne
Incontinentia pigmentia
Color blindness
125
Q

AD

A

Expressivity and penetrance

Marfan's
Neurofibromatosis
Achondroplasia
ADPKD
Ectrodactly
Tuberous sclerosis
22q11
Huntington's
Myotonic dystrophy
126
Q

AR

A 
Parents are obligate carriers, siblings 2/3 risk carrier
CF
Sickle cell
Tay Sachs
SMA
Hemochromatosis 
Lysosomal storage disorders 
CAH
Friedman ataxia
127
Q

Incontinentia pigmentia

A

X-linked Dom
Lethal to males in utero
Females have abnormal skin color

128
Q

Beckwith-Wiedemann

A

20% due to Imprinting 11 (2 paternal genes)
Omphalocele and macroglossia
4-5% in IVF preg vs 1% general population

129
Q

Prader Willi

A

PWCR 15 “no father”

  • Paternal deletion region chromo 15
  • maternal UPD 15
  • imprimtimg deletes 15

Hypotonia, weak DTR, loss appetite, developmental delay, almond eyes, triangle mouth, small forehead, hands and feet
Childhood hyperphagia and obesity

130
Q

Angelman

A

“no mom”
MC-Deletion mat region chrom 15 (UBE3A gene)
UPD
Imprinting defect maternal chrom 15

Severe developmental delay and speech impairment
Ataxia, tremors, “happy demeanor”, seizures,.microcephaly, coarse facial features, normal at birth delay by 6 mo

131
Q

Trisomy 21

Genetics/diagnosis

Outcomes

L

A

MC autosomal aneuploidy in liveborn
1% mosaic, 5% translocation, 86% complete triplicate
1/700
90% maternal non dysfunction
Need karyotype to assess recurrence risk
Low PAPPA and high hCG (1st trimester)
low estriol, AFP and high hCG and inhibin (2nd trimester)

132
Q

Trisomy 13
Genetics/diagnosis

Prognosis

A

1/6000 liveborn
Low hCG and PAPPA (1st trimester)
High AFP, inhibin, norm hCG and estriol (2nd tri)

75% complete triplicate, 20% translocation, 5% mosaic
Holoprosencephaly+anomalies >90% diagnostic

50% IUFD, 80% demise DOL 1, 10% survival at 1yr

133
Q

Trisomy 18
Genetics/diagnosis
Outcomes

A

2nd MC aneuploidy in liveborm 1/3000
All analytes low
80% complicate triplicate, 10% mosaic, 10% translocation

50% IUFD, 20% demise by DOL 1, 10% demise by 1yr, 5yr survival 12%

134
Q

X linked ichthyosis

A

Male
Extremely low estriol <0.15
Steroid sulfatase deficiencydry.scaly skin

135
Q

Trinucleotide repeat conditions

A 
Fragile X
Myotonic dystrophy
Huntington's
Prognosis myoclonus epilepsy
Friedrich ataxia

Common symptoms
Neurocognitive symptoms, all inheritance patterns, middle age or older at onset, anticipation

136
Q

Myotonic dystrophy

A

AD, CTG repeats. DMPK gene
MC dystrophy seen in mom’s
Shake hands and can’t let go
Norm 5-37
Mild: 50-90, onset >50yr, cataract, frontal balding
Mod: 90-1000 20-30yo, muscle weakness, myotonia, cataracts
Congenital: >1000 poly, hypotonia, developmental delay, always due to maternal anticipation

137
Q

Fragile x

A

X linked rec, CGG
MC inherited from of mental retardation
Norm 5-44, intermediate 45-54, premutation 55-200, symptom > 200
ADHD, autistic, long thin face with prominent forehead, prominent ears, hypotonia (cerebellar hypoplasia), increased joint flexibility, enlarged testicles

X inactivation causes silencing. More AGG balances repeats

Ataxia/tremors, premature ovarian failure in premutation carriers

138
Q

CF

A 
Carrier 1/25
MC lethal AR condition in US
Mutations in CFTR, delta F508 MC
Affects lungs, GU, sweat glands, and repro tract
Panel 23 mutations
Genotype vs sequencing
139
Q

SMA

A

Carrier 1/40
2nd MC lethal AR in US
#1 genetic cause of death before 2 yo
Hypotonia, absent DTR, severe resp compromise
Decreased SMN protein cause slow deterioration spinal motor neurons
More SMN#2 copies causes less disease severity
Normal- 2 copies, carrier-1 copy, affected-0 copies
If 2 copies in cis then false negative carrier test

140
Q

Ashkenazi Jewish screening

A

Tay Sachs (1/30)
Canavan (1/40)
CF
Familial dysautonomia (1/30)

141
Q

Thickened NT

A

If >3.5mm, then 99% poor outcome

If norm karyotype, echo, detail, Noonan testing than normal outcome

142
Q

Soft markers

A 
Cystic hygroma -55% karyotype anomaly
EIF-LR 1.4
Pyelectasis LR 1.1-1.5
Echogenic bowel LR 5.5
Thick nuchal fold LR 11
Mild ventriculomegaly LR 25
CPC - if isolated no risk
Short femur (<2.5%) LR 1.2-2
143
Q

Risk aneuploidy by age

A

Age. T21. Any aneuploidy

  1. 8/10000. 1/122
  2. 14/10000. 1/110
  3. 1/265. 1/84
  4. 1/60. 1/40
  5. 1/23
144
Q

PAPP-A

A

<5% in first trimester assoc with fetal/neonatal demise and FGR, PEC, PTD, abruption

145
Q

Elevated hCG, AFP and DIA in second trimester

A

iUFD
FGR
PEC

146
Q

Trisomy 13 anomalies

A

CNS-alobar HPE, microcephaly, ventriculomegaly, cerebellar anomalies

Facial anomalies-cyclopia, hypotelorism, microphthalmia, anophthalmia, absent nose or proboscis, midline and bilateral cleft, low set ears

Cardiac- HLHS+EIF, VSD, other complex CHD
Renal-echogenic, UTD
Musculoskeletal-postaxial polydactyly, clenched fists, rocker bottom feet
GI-omphalocele, echogenic bowel
FGR-early onset and progressive, poly common

147
Q

Trisomy 18 anomalies

A

Cardiac-VSD, TOF,DORV
Musculoskeletal -clenched hands, overlapped fingers, radial ray, rocker bottom feet, club feet, arthrogryposis
GU-LUTO, hydronephrosis
CNS-dandy Walker, HPE, ONTD
Face-clefts low set ears, hypertelorism, micrognathia
GI-omphalocele, CDH, esophageal atresia
Small olacent, FGR, poly, SUA, strawberry calvarium

148
Q

Trisomy 21 anomalies

A

HL and FL exp to measures <0.9
Cardiac-25-50%
GI (10%), duodenal/esophageal atresia, omphalocele
CNS (4-8%)-ventriculomegaly, HPE

149
Q

CMV signs of congenital infection

A 
Asymptomatic
Jaundice 
Petechiae
Thrombocytopenia
Hepatosplenomegaly
FGR
Myocarditis
Hydrops
Chorioretinitis
Hearing loss
150
Q

CMV

Risk of congenital infection

A 
Primary infection
Overall 30-50%
1st trimester 30%
2nd trimester 34-38%
3rd trimester 40-72%

Most severe sequelae in first trimester
30% severe sequelae eventually die
65-80% survivors have severe neurologic morbidity
10-15% asymp at birth develop hearing loss, chorioretinitis, dental abnormal by 2yra

151
Q

CMV US findings

A 
Placentomegaly
Microcephaly*
Ventriculomegaly*
Periventricular calcification*
Hydrops
FGR, oligo
Echogenic bowel*
152
Q

CMV diagnosis

Treatment

A

Conversion of serum IgG or IgM+ with low avidity IgG
Amnio PCR after 21 wks and 6 wks from infection

Treatment with IV hyperimmune globulin
Can repeat in 2 wks if US remains pos or PCR remaims positive–not currently recommended

153
Q

Parvovirus B19

A

Once rash develops not contagious
Risk from primary infection 8-17% <20wks, 2-5% >20wks
If known exp and IgM neg, retest in 4 wks
10% hydrops due to aplastic crises, myocarditis, hepatitis. Occurs up to 8 wks from infection.
Virus suppresses erythropoiesis causes high output heart failure

Confirm infx, MCA x8 wks, IUT if needed
3rs.trimester growth US

154
Q

Varicella

A

10-20% infections cause pneumonia, 40% mortality
Risk Congenital infx by trimester, 0.5%, 2%, 0%- causes skin scarring, limb deformity, microcephaly, FGR. If norm US likely norm outcome
Maternal infx 5 days pre delivery to 48 hr PP risk of neonatal infx. Treat neonate with IV acyclovir

Postexposture prophylaxis tx VZIG for 10 days if less than 4 days from exp

155
Q

Toxoplasmosis

A

Risk Congenital infx 20-50% without treatment
Risk 10/25/60% by trimester
More severe if earlier, 90% develop chorioretinitis, hearing loss, severe neurodevelopmental delay

US: Ventriculomegaly, intracranial calcifications, microcephaly, ascites, hepatosplenomegaly, FGR, echogenic.bowel

Amnio PCR to confirm following maternal serum at reference lab

Can treat with pyrimethamine, sulfadiazine, folinic acid

156
Q

Types of Syphilis infections

A

Primary: painless chancre and painless inguinal lymphadenopathy, heals 3-6 wks
Secondary: disseminated, maculopapular on palms and soles, condyloma latum (very contagious) clears 2-6 wks
Latent: early-first year, 25% recurrence
Late-not contagious, could cross placenta
Tetiary: 50% benign disease with gummas
25% with CNS disease, argll-robertson pupil (no react, +accommodate)
25% CVS with aortic aneurysm, aortic insuff

157
Q

Risk Congenital syphilis

A

50% with primary or secondary with 50% mortality
40% early latent and 20% mortality
10% with late latent
<10% Tetiary (Neuro)

158
Q

Congenital syphilis

A

Most severe outcomes with primary or secondary dis
Stillbirth, neonatal death, hydrops
Risk to fetus present through our pregnancy related to amount of spirochete in bloodstream
Complications: PTD, FGR, IUFD

159
Q

Early congenital syphilis

A

Maybe be asymptomatic,.develop symptoms in few.weeks must be before 2 yo
Maculopapular rash->desquamation
Snuffles, mucous patches, hepatosplenomegaly, jaundice, lymphadenopathy, pseudoparalysis of Parrot, chorioretinitis and iritis

Occurs due to no or incomplete treatment

160
Q

Late congenital syphilis

A

Hutchinson’s teeth, mulberry molars, interstitial keratitis, eighth nerve deafness, saddle nose, saber shins, Neuro manifestation

Symptoms due to scarring from earlier lesions

161
Q

Syphilis treatment

A

Primary, secondary and early latent-Pen G 2.4 mil x 1, titers 6 and 12 mo, should decrease by 4 at 12 mo

Late latent or unknown: pen X3 doses, titers at 6, 12, 24 mo

Neurosyphilis: pen IV q4 he’s x 10-14 days, procaine PCN daily, probenecid daily

162
Q

TB

A

Treat: INH (+B6/pyridoxine), rifampin, pyrazinamide (not in pregnancy), ethambutol

Can breast feed after 2 weeks treatment

Screen if HIV, know exp, endemic area, IVDA, alcoholic, jail/mental hosp

163
Q

Listeriosis

A

Early-develop sympyoms in hours, diffuse sepsis (lungs, liver, CNS), high stillbirth and neonatal mortality rate.

Late onset: days to weeks, meningitis (MC), term infant develop hydrocephalus and MR, 40% mortality. May cause placental seeding and abscess

TX: PCN +amp x 1 wk

Early treatment reduces complications and stillbirth

164
Q

Neonatal herpes

A

In utero infection causes no complication

Symptoms by 1 week of life
Skin lesions, cough, cyanosis, tachypnea, dyspnea, jaundice, seizures, DaiC

50% risk infection if primary, 1-2% if recurrent
Mortality 40%

TX: acyclovir or valtrex

165
Q

Rubella

A

50% risk of maternal infection prior to 12 wks
0% if after 18 wks

Causes: deafness, cataracts/retinopathy, CNS defects and microcephaly, CHD like branch PA stenosis and PDA

10-20% non immune to vaccine

166
Q

Hepatitis B

A

85-90% resolve with protective antibody
<1% fulminant hepatitis and death
10-15% chronic infection

10% perinatal infx if new maternal infx, 60-90% of term.
10-20% transmission if no prophylaxis
85-95% risk chronic infx if perinatal acquired and 25-30% fatal liver disease
Treat tenofovir if >20,000 IU/mL

167
Q

HIV risks perinatal transmission

A 
No antiviral treatment
No prenatal car
AIDS
Low CD4 and high viral load
IVDA
PTD
Breastfeeding
168
Q

HIV partum treatment

A

RNA>1000 or consider 500-999
Zidovidine 2mg/kg bolus then 1 mg/kg in labor, at least 3 hrs prior to delivery

If unknown status then expedited antigen and antibody test and treat until results

Wash baby

169
Q

HIV pregnancy care

A

Check RNA levels and CD4
Repeat q2wks.until undetectable then q trimester and 34 wks

CD4 prophylaxis
<200-PCP, too,MAC give bactrim and azithro
<50- fluconazole

170
Q

CHAOS

A

Tracheal or laryngeal instruction from stenosis, atresia or webs
US: b/l echogenic, enlarged lungs, dilated fluid filled trachea, flattened diaphragm, heart small and midline, ascites (incr thoracic pressure causes dec lymphatic and venous drainage)
50% other anomalies (VACTERL, short rib polydactyly, 22q), need echo
Diff: CPAM
Poor prognosis consider EXIT
Occasional AD

171
Q

TEF

A 
MC type esophageal atresia with distant tracheal fistula 
US: small or absent stomach, poly
5-40% aneuploidy (T18/21), VACTERL
40% FGR
Diff: CDH, abnormal swallowing

Offer genetic counseling, karyotype, peds surg

172
Q

TEF syndromes

A

10% occur in syndromes
Feingold-GI atresia, syndactyly, microcephaly, 30-40% TEF

CHARGE-Coloboma, heart (TOF), choanal atresia, FGR, GU (small penis), ear. 10% TEF, 2/3 mutation in CHD7)-often have TEF and cleft. De novo

AEG Syndrome-anophthalmia, esophageal atresia, GU anomalies

Pallister-Hall: postaxial polydactyly, anal atresia, hypothalamic hamartoma, renal anomalies, laryngo-trrachea-esophageal fistula

173
Q

Warfarin exposure

A

Nasal bone hypoplasia
Stippled epiphyses
Depressed nasal bridge
FGR

174
Q

MTX exposure

A

Calvaria hypoplasia
Limb defects
Craniofacial abnormalities

175
Q

Antibodies causing hemolytic disease of the newborn

A 
D
E, C, c, Duffy (Fya)
Kidd (Jka)
M, S, s, U
-cause hemolysis, measure with OD450

Kell
-antibidy blocks erythropoiesis, no hemolysis, normal OD450

176
Q

Alloimmunization

A

15% Caucasian Rh neg, 3-5% black, rare in Asian

Risk sensitize 0.7-1% in first pregnancy
10% acquire anemia

Without rhogam 17% become sensitive if treated at 28 and PP then 0.1% risk (2% if no PP)

177
Q

Non immune hydrop etiology

A

Impaired lymphatic flow/obstruction
Cardiac failure
Extravasation

178
Q

Hydrops causes

A

CVD (20%)-arrythmias (40%), high output HF (15%), structural anomalies (20%

Chromosomal anomalies (14-20%)-MC T21/45XO

Extra cardiac anomalies (14-25%): thoracic, GU, GI, skeletal, vascular

Infection (10-15%): MC parvo

Hematologic (5-15%)
Fetal tumors (1-5%)
Metabolic (1-5%)

179
Q

Cystic hygroma

A

First trimester: 55% aneuploidy, T21 then 45XO, then 18/13, triploidy
Second semester: 66% aneuploidy, 45XO then T21, then others

10-20% resolve if small
Assoc with Noonan’s, Cornelia de Lange, angelman, skeletal dysplasia
75% mortality if anomalies, 35% if isolated
Detail US, echo, genetic testing,

180
Q

Turner’s Syndrome

A

Complete of partial deficiency of X
Cystic hygroma and hydrops Hallmark feature
45% coarc 15% HLHS, horseshoe kidney, short FL/HL, webbed neck, short stature
89% detected by NIPS
75% SAB
May have ambiguous genitalia
Mild FGR
Increased risk aortic dissection as adult, metabolic syndrome

181
Q

Mosaicism

A

0.25% amnio and 1% CVS
If on CVS offer amnio, if amnio neg then confined placental mosaicism at risk for FGR
Any mosaic CVS should have UPD testing as trisomic rescue can cause mosaicism

182
Q

Causes of stillbirth

A 
FGR (2.5%)
Abruption (5-10%)
Chromosome/genetic (6-13%)
Infection (10-20%)
Cord events (10%)
183
Q

FGR outcomes

A

Cognitive delay
Adult metabolic diseases
iUFD 1.5% if mild, 2.5% if severe
Hypocalcr, hyperbilirubinemia, hypothermia, IVH, NEC, Seizures, RDS, death

184
Q

Risk of FGR by analytes

A

Low PAPPA
AFP>2
UE3<0.5
Inhibin >2

185
Q

Echogenic bowel

A 
0.4-2% all pregnancies
Idiopathic -80%
T21 (18/13)- 6.7x a priory risk
Infx or CF-4-5%
Meconium peritonitis
FGR -10%
Ingested blood
Bowel ischemia
186
Q

Fetal fraction determinants

A 
Gestational age
Maternal BMI
Maternal DM
Aneuploidy
Mosaicism
Multiples 
Lovenox can lower
187
Q

Early onset FGR

A

Genetic

  • T13/18/21, 45XO, triploidy
  • Williams
  • SLO, Russel-Silver, Cornelia de Lange, skeletal dysplasia

Infection -CMV, too, rubella, HSV/VZV, syphilis

Maternal- extreme age, exposures, SLE, T1DM, vascular disease

Placental-placental insifficiency, mosaicism,

Poor dating

188
Q

Cornelia de Lange

A 
Single gene deletion
Severe FGR early
Microcephaly
Limb reduction defects(absent forearms, missing digits, contractures UE)
Severe micrognathia
Can have CDH and CHD

Wide spectrum facial phenotype: intellectual impairment, speech delay, hearing loss, seizures
Unibrow

189
Q

VACTERL

A

Limb defect-MC radial radial

No single gene defect known

190
Q

Allagile syndrome

A

TOF
PA stenosis
Butterfly vertebrae
Jaundice

191
Q

Noonan’s

A

AD, High penetrance and variable expressivity
Mutations in RAS pathway so multiple gene can cause. Most de novo

CHD (50-80%)-PS pathognomonic, hypertrophic CM
Deep philtrum, hypertelorism, low ears, pectus deformity, short, bleeding disorders, some have intellectual delay with vision/hearing problems

192
Q

UPD chromosomes

A

5, 7, 11, 14, 15, 20

Methylation studies of one of these chromosomes can tell if UPD

Occurs with trisomic rescue

193
Q

Cleft lip risk factors

A 
Alcohol
Valproic acid, phenytoin
Retinoic acid
DM
Family history 
Folic or zim deficiency
Rubella
194
Q

Meckel-Gruber

A

Lethal
AR
Hallmark-occipital encephalocele, enlarged polycystic kidneys and polydactyly

Wide range of other anomalies can occur

195
Q

Anomalies with no genetic association

A 
Sacrococcygeal teratoma
TGA
Duplicated collecting system
Gastroschisis
Septo-optic dysplasia
Vein of Galen malformation
196
Q

Fetal hydantoin syndrome

A 
Phenytoin exposure
FGR, microcephaly
Hypoplastic nails and digits
Craniofacial abnormalities-flat, wide, short nose, hypertelorism, abnormal ears, cleft lip/palate, microcephaly
Cardiac defects and arryrhmias 
Delayed motor skills 
Mild learning delay
197
Q

Vein of Galen malformation

A

AV fistula between deep choroidal arteries and median porencenphalic vein that prevents formation of normal vein of Galen

Appears as vascular midline structure

Drains via straight sinus or falcine sinus into superior sagittal sinus

Diff: porencenphaly, arachnoid cyst, venous sinus engorgement

Causes high out HF (65%)and ventriculomegaly (40%)

Increased flow at birth causes.high mortality rate if.not diagnosed prenatally. If survives developmental delay common

TX: consider delivery if hydrops, medical tx CHF with fistula repair at 4-6 mo.

198
Q

Brachial plexus injuries

A

Erb’s palsy (Waiter’s tip) C5-C6

Klumpke’s palsy (claw hand deformity) C8-T1 Horner’s syndrome (ptosis, mitosis, anhydrosi) T1 sympathetic roots

199
Q

AD conditions but most are de novo

A

Tuberous sclerosis

22q11

200
Q

Fetal liver mass

A

Congenital hepatic hemangioma - benign, well defined, solid, areas of necrosis, significant AV shunting, enlarged IVC, may cause poly, cardiomegaly and hydrops. Most don’t need treatment, consider delivery if hydrops. Steroids may shrink mass, rare embolization after delivery

Hepatoblastoma- solid, echogenic, spoke wheel appearance, some vascularity, some calcification

Mesenchymal hamartoma- multiloculated, cystic mass, no Doppler flow, may need cyst drainage if large, rarely cause hydrops

201
Q

Spondylo costal dysostosis

A

AR
Previously part of Jarcho-Levin syndrome
Vertebral anomalies and hemi-vertebrae, bifid ribs
Can cause respiratory difficulties

Oral Board Note cards (3 decks)

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