DISCLOSURES FETAL ULTRASOUND • No financial disclosures FINDINGS: Normal or abnormal? June 15, 2017 41 st Annual Antepartum and Intrapartum Management Lena H. Kim, MD MFM, Sutter Health, CPMC LEARNING OBJECTIVES WHY THIS TOPIC? • Obstetrical ultrasound – History – Guidelines for its use • Ultrasound findings of unclear significance – “Soft markers” – Patient counseling – Clinical management 1
THE ORIGIN OF ULTRASOUND OBSTETRICAL ULTRASOUND HISTORY • 1842 • 1958 Christian Doppler: the Doppler effect Diasonograph: Dr. Ian Donald & Thomas Brown • 1960s “observed frequency of a wave depends on the relative Placenta previa, molar pregnancy speed of the source and the observer” • 1970s Biometry, anomalies • 1915 Paul Langevin: ultrasonic submarine detection • 1980s Acuson, TVUS, color Doppler • 1943 Sir Robert Alexander Watson-Watt: radar • 1990s Harmonics, Voluson 3D/4D • 1952 Dr. Douglass Howry: water delay scanning • 2000 Modern real time scanning on the market • 1953 Inge Edler & Carl Herz: M-mode � heart OBSTETRICAL ULTRASOUND IS OB ULTRASOUND EVIDENCE-BASED? • Guidelines for its use • RADIUS trial – 1 st U.S. RCT of routine OB ultrasound screening – ACOG & NICHD endorse use of OB ultrasound – >15,000 women • GA estimation, singleton v multiple gestation, – Increased fetal anomaly detection (34.8 v 11%) fetal cardiac activity, placental location, – NO IMPROVEMENT OF PERINATAL OUTCOMES congenital structural anomalies, fetal growth • Rate of adverse perinatal 5.0% v. 4.9% ACOG Practice Bulletin No. 175, Obstet Gynecol . 2016;128(6) Ewigman et al. RADIUS RCT NEJM 1993;329(12):821 NICHD 2006 workshop, Obstet Gynecol . 2008 Jul;112(1):145-57 2
IS OB ULTRASOUND EVIDENCE-BASED? ULTRASOUND “SOFT MARKER” • Eurofetus study • What IS it? What does it look like? – Prospective study of 61 OB centers • How do I counsel the patient? – Anomaly detection rate 56% (2593/4615) • What is the indicated follow-up? • Major anomaly detection rate 74% (46% for minor) • CNS 88% v major cardiac 39% – Higher rates of pregnancy termination Grandjean et al. Eurofetus Study. AJOG 1999;181(2):446 AUDIENCE RESPONSE QUESTION #2 AUDIENCE RESPONSE QUESTION #1 When you read “pyelectasis” in your patient’s When you read “Echogenic intracardiac focus” 2 nd trimester ultrasound report but maternal (EIF) in your patient’s 2 nd trimester ultrasound serum cell free fetal DNA was negative, you are: report, are you worried about T21? 64% 73% A. Worried about T21 primarily A. Yes B. Not worried about T21 but worried B. No about GU anomalies (reflux, C. It depends on other factors… 15% obstruction) 13% 16% 7% 10% D. I don’t know 1% C. Not worried about anything s o e w w Y N … o y g o l n n s n D. I don’t know r i r k a . . h i k o m . t t t t t ’ u y n ’ c n r i n a p b o f o a d d 1 1 t r 2 u I e I 2 T h T o t b t t u a o u o o n b d b e o a a i r s d d r d e o e i w n r i r e r r o o t p w o e W N d t o t N I 3
SOFT MARKERS OF ANEUPLOIDY SOFT MARKERS OF ANEUPLOIDY • Ultrasound findings of uncertain significance • Isolated soft marker 11-17% of normal fetuses – Increased nuchal translucency (NT) – Mul�ple markers ↑likelihood of aneuploidy – Absent or hypoplastic nasal bone – Prevalence different by race/ethnicity – Echogenic intracardiac focus (EIF) – Choroid plexus cysts (CPCs) – Echogenic bowel – Pyelectasis (pelviectsis) – Thick nuchal fold (NF) – Ventriculomegaly – Shortened long bones Breathnach et al. Am J Med Genet 2007;145C(1):62 Breathnach et al. Am J Med Genet 2007;145C(1):62 TRISOMY 21 ULTRASOUND FINDINGS NT DIFFERENTIAL DIAGNOSIS • Thick nuchal translucency (CRL 45-84mm, 11 2 – 14 2 ) • Aneuploidy • Noonan’s syndrome – >99 th %ile for GA or ≥3.0 mm • Congenital heart defect • ↑Risk TTTS if mo/di – Sequential screening 95% detection, 5% false+ • Normal variant NT ANEUPLOIDY FETAL DEATH MAJOR FETAL ALIVE & WELL (%) (%) ANOMALY (%) (%) <95 th centile 0.2 1.3 1.6 97 95 – 99 th centiles 3.7 1.3 2.5 93 3.5 – 4.4 mm 21.1 2.7 10.0 70 4.5 – 5.4 mm 33.3 3.4 18.5 50 5.5 – 6.4 mm 50.5 10.1 24.2 30 >6.5 mm 64.5 19.0 46.2 15 Souka et al. AJOG 2005;192(4):1005 4
TRISOMY 21 ULTRASOUND FINDINGS TRISOMY 21 ULTRASOUND FINDINGS • Thick nuchal fold 2 nd tri • Absent nasal bone – 1 st tri: 65% of T21, 0.8% of euploid – ≥6 mm – 2 nd tri: 30-40% of T21, 0.3-0.7% of euploid – 20-33% of T21, 0.5-2% of euploid • Hypoplastic nasal bone – Length ≤2.5 mm • BPD/NB, GA %ile threshold, MoM – 50-60% of T21, 6-7% of euploid Agathokleous et al. Ultrasound Obstet Gynecol 2013;41(3):247-61 Agathokleous et al. Ultrasound Obstet Gynecol 2013;41(3):247-61 Moreno-Cid et al. Ultrasound Obstet Gynecol 2014;43(3):247 Moreno-Cid et al. Ultrasound Obstet Gynecol 2014;43(3):247 ECHOGENIC BOWEL TRISOMY 21 ULTRASOUND FINDINGS • Technique counts • Etiology • Echogenic bowel – Compare to iliac wing – Aneuploidy – Bright as or brighter than bone – Use 5 MHz or lower – Ingested blood – 13-21% of T21 v 1-2% euploid – Turn down gain – Cystic fibrosis – Take off harmonics – IUGR – Infection • CMV, toxoplasmosis • More rare parvovirus, varicella, HSV Agathokleous et al. Ultrasound Obstet Gynecol 2013;41(3):247-61 Dagklis et al. Ultrasound Obstet Gynecol 2008;31(2):132 5
TRISOMY 21 ULTRASOUND FINDINGS PYELECTASIS ETIOLOGIES • Pyelectasis • Common causes • Rare causes – Vesicoureteral reflux – Duplicated collection – Renal pelvis ≥4 mm 2 nd trimester – Ureteropelvic junction – Ectopic ureter – 10-25% of T21 v 1-3% of euploid • Obstruction or narrowing – Ureterocele – Isolated finding: 0.3-0.9% risk of aneuploidy – Ureterovesical junction – Megaureter • Obstruction or narrowing – Urachal cyst – Posterior urethral valve (males) Agathokleous et al. Ultrasound Obstet Gynecol 2013;41(3):247-61 Dagklis et al. Ultrasound Obstet Gynecol 2008;31(2):132 VENTRICULOMEGALY DDX TRISOMY 21 ULTRASOUND FINDINGS • Other than aneuploidy… • Ventriculomegaly • Other CNS abnormalities? – ≥10 mm – Fetal brain MRI – 4-13% of T21 v 0.1-0.4% of euploid • CSF obstruction – oNTD – Aqueductal stenosis – Intraventricular hemorrhage – Mass – Congenital infection � scarring � obstruction • CMV, toxoplasmosis • Idiopathic/normal variant Agathokleous et al. Ultrasound Obstet Gynecol 2013;41(3):247-61 Dagklis et al. Ultrasound Obstet Gynecol 2008;31(2):132 6
TRISOMY 21 ULTRASOUND FINDINGS SHORT LONG BONES • If low risk aneuploidy… what else? • Shortened long bones – Normal variant? – BPD/FL >1.5 SD • Family heights, ethnicity – Short humerus positive LR 4.8 – IUGR? • Other biometry %iles – especially AC – Short femur positive LR 3.7 – Skeletal dysplasia? • Femur <5 th centile or <2 SD from the mean for GA • Measure the humerus, radius, ulna, tibia, & fibula • Femur:foot length ratio <0.9 • Fractures? Bowed? Mineralization? • Small thorax? • Less than expected interval growth • Referral to an experienced center Agathokleous et al. Ultrasound Obstet Gynecol 2013;41(3):247-61 Lockwood et al. AJOG 1987; 157(4Pt1):803 ISOLATED EIF TRISOMY 21 ULTRASOUND FINDINGS • EIF • If low risk aneuploidy screening… NORMAL – 21-28% of T21 v 3-5% of euploid – Many providers not reporting isolated EIF • 30% of euploid Asian fetuses • Isolated EIF is NOT a congenital birth defect • Does not warrant follow up ultrasound • Does not warrant fetal ECHO Agathokleous et al. Ultrasound Obstet Gynecol 2013;41(3):247-61 7
TRISOMY 21 ULTRASOUND FINDINGS TRISOMY 18: EDWARDS SYNDROME • Soft markers • Anomalies • Clinodactyly • Sandal gap foot – CPCs – Cardiac • 30-50% of T18 – Intracranial • 0.6-3% of euploid – Omphalocele – Thick NT, cystic hygroma – CDH – Ventriculomegaly – Urogenital – SUA, cord cysts • Other – Neural tube defects – Clenched hands – IUGR – Rocker bottom feet – Facial cleft, low set ears – Strawberry-shaped head – Micrognathia Agathokleous et al. Ultrasound Obstet Gynecol 2013;41(3):247-61 Dagklis et al. Ultrasound Obstet Gynecol 2008;31(2):132 TRISOMY 13: PATAU SYNDROME TRISOMY 18: EDWARDS SYNDROME • Soft markers • Anomalies – Nuchal thickening – Intracranial – Ventriculomegaly – Midline facial • Other – Cardiac – Omphalocele – Clenched hands – CDH – Polydactyly – Neural tube defects – Polycystic kidneys – Other urogenital 8
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