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Genetic evaluation of fetal mal<strong>for</strong>mations • Congenital anomalies are present in ~3% of live births • Many of these are identified prenatally • Usual work up includes detailed ultrasound and amniocentensis • What then??
Genetic evaluation of fetal mal<strong>for</strong>mations • Amniocentesis (karyotype) does not tell you everything about genetic disorders • A fetus is not the same as a neonate • The most important anomaly is the second anomaly • The key to diagnosis is often in the family history
Page 1: Fetal Anomalies: What is the Diagno
Page 5 and 6: An amniocentesis does not tell you
Page 7: Spectrum of Genetic Disease Autosom
Page 10 and 11: Clues to determining the diagnosis
Page 14: BWS case
Page 18 and 19: Beckwith Wiedemann Syndrome Molecul
Page 22 and 23: Beckwith Wiedemann Syndrome • Cau
Page 24 and 25: Why Does it Matter? • 10-20% of p
Page 26 and 27: Outcome of Prenatally Diagnosed Omp
Page 28 and 29: Bilaterally enlarged lungs
Page 31: US Findings • Oligohydramnios •
Page 38 and 39: Fraser Syndrome • Autosomal reces
Page 40 and 41: Family History parents partner PATI
Page 42 and 43: Second & Third Degree Relatives unc
Page 44 and 45: X-Linked Disorders 1/2 1/4 Hemophil
Page 49 and 50: Fetal Heart Defect Tetralogy of Fal
Page 51 and 52: What is the Diagnosis?
Page 53 and 54:
del(22)(q11.2q11.2) (D22S75-) Chr 2
Page 55 and 56:
Etiology of Congenital Heart Defect
Page 57 and 58:
Tetralogy of Fallot Poon et al, 200
Page 59 and 60:
Congenital Heart Defects ETIOLOGY R
Page 62 and 63:
Bilateral Renal Agenesis “Lying d
Page 64 and 65:
Left Kidney Maternal evaluation
Page 66 and 67:
Renal Agenesis • Empiric recurren
Page 68 and 69:
Hydrops
Page 70 and 71:
Fetal Hydrops Evaluation: • US: s
Page 72 and 73:
Nonimmune Hydrops ETIOLOGY PROGNOSI
Page 74 and 75:
A fetus is not the same as a neonat
Page 76 and 77:
Chromosome abnormalities are more c
Page 78 and 79:
A fetus is not the same as a neonat
Page 80 and 81:
The hardest anomaly to detect is th
Page 83 and 84:
Congenital diaphragmatic hernia and
Page 85 and 86:
Fryns Syndrome • Autosomal recess
Page 87 and 88:
CDH: Outcomes of Prenatal vs Postna
Page 89 and 90:
Survival of fetuses with CDH Author
Page 91 and 92:
Fryns syndrome cases at UCSF Congen
Page 93 and 94:
Congenital Diaphragmatic Hernia and
Page 95 and 96:
Agenesis of corpus callosum
Page 98:
Agenesis of corpus callosum Normal
Page 102 and 103:
What is the Diagnosis?
Page 104 and 105:
MRI for CNS abnormalities Levine et
Page 106 and 107:
Mild Ventriculomegaly • Associate
Page 108 and 109:
Perinatal Autopsy • Perinatal aut
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