The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester...
Transcript of The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester...
![Page 1: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/1.jpg)
The First Trimester Anatomy Scan
John R. Allbert, MD
Novant Maternal-Fetal Medicine Associates
![Page 2: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/2.jpg)
Anatomic Survey
• Second trimester (18-22 week) scan remains the gold standard
• First trimester evaluation of anatomy introduced in the 1980’s
• NT aneuploid screening has rekindled the interest in the first trimester anatomy scan
![Page 3: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/3.jpg)
1st Trimester Ultrasound
• Viability • Accurate gestational age • Aneuploid screening • Early detection of major
anomalies • Earlier genetic diagnosis • Critical for the determination of
multiple pregnancy chorionicity • Identify fetuses at high risk of
IUGR and PIH
![Page 4: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/4.jpg)
![Page 5: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/5.jpg)
Nuchal Translucency (NT)
![Page 6: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/6.jpg)
Nuchal Translucency (NT) The Most Critical Component of 1st
Trimester Screening • Fluid collection behind the fetus’ neck
• Measured by U/S between 10+3 and 14+0 wks, (CRL 39-84 mm)
• Excess Fluid accumulation is an indicator of an increased risk of fetal abnormalities
*Trisomy 21, trisomy 18, & heart defects
• The more fluid indicates a greater risk of an abnormality
![Page 7: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/7.jpg)
Adjusted risk T21: 1:3700 Adjusted risk of T21: 1:100
![Page 8: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/8.jpg)
Increased NT 5.5 mm
![Page 9: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/9.jpg)
Screening for Down Syndrome
• FIRST TRIMESTER MARKERS
• Advanced maternal age
• Excess Nuchal translucency
• Low PAPP-A
• Elevated hCG
![Page 10: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/10.jpg)
First Trimester Ultrasound Beyond Aneuploidy
• Abnormalities associated with an increased nuchal translucency
• Screening for other anomalies
*Direct visualization
*Indirect visualization
• Risk for perinatal M&M: preeclampsia & IUGR
![Page 11: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/11.jpg)
NT Pathophysiology
• Cardiac dysfunction
• Altered composition of the extracellular matrix
• Failure of lymphatic drainage
• Fetal anemia
• Hypoproteinemia
• Congenital infection
![Page 12: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/12.jpg)
Increased NT
NT Aneuploidy Fetal Death Anomalies Alive & Well
<95th% 0.2% 1.3% 1.6% 97%
95-99% 3.7% 1.3% 2.5% 93%
3.5-4.4mm 21.2% 2.7% 10.0% 70%
4.5-5.4mm 33.3% 3.4% 18.5% 50%
5.5-6.4mm 50.5% 10.1% 24.2% 30%
>6.5mm 64.5% 19.0% 46.2% 15%
Soulka AJOG 2005 192:1005
![Page 13: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/13.jpg)
Conditions Associated with Increased NT
• Cardiac defects • CDH • Omphalocele • Achondroplasia • Asphyxiatingthoracic dystrophy • Blomstrand Osteochondrodysplasia • Body Stalk Anomaly • Campomelic Dysplasia • Fetal Akinesia Deformation Sequence • Fryn Syndrome • Hydrolethalus Syndrome • Jarco Levin Syndrome
![Page 14: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/14.jpg)
Conditions Associated with Increased NT
• Jourbert Syndrome • Meckel-Gruber Syndrome • Nance-Sweeny Syndrome • Noonan Syndrome • Perlman Syndrome Smith Lemli Opitz Syndrome • Spinal Muscular Atrophy Type I • Osteogenesis Imperfecta • Thanatophoric Dysplasia • Short Rib Polydactyly Syndrome • Trigonocephaly “C” Syndrome • VACTERL • Zellweger Syndrome
![Page 15: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/15.jpg)
13-14 Week Fetal Anatomy Scan
• 5 year prospective study
• N=2876
• Transabdominal and transvaginal if needed
• TV superior with cranium, spine, stomach, kidneys and upper and lower limbs
• TA complete scan in 64%
• TA & TV complete scan in 82%
• Heart not adequately seen in 42%
Ebrashy A, UOG 2010;35:292
![Page 16: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/16.jpg)
First Trimester Anomalies Detected 13-14 weeks 16-20 weeks
Anencephaly 3 0
Cardiac 1 3
Omphalocele 1 1
Gastroschisis 2 2
Megacystis 2 2
Skeletal
dysplasia
1 2
Holoprosencephaly 1 0
Bilateral Talipes 1 1 Ebrashy 2010
![Page 17: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/17.jpg)
Sensitivity of Major Anomalies 13-14 week Ultrasound
Author Year Number Sensitivity %
Economidies 1998 1632 54
Carvalho 2002 2853 38
Taipale 2004 4513 18
Chen 2004 1609 54
Soulka 2006 1148 50
Ebrashy 2010 2876 68
![Page 18: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/18.jpg)
Anomaly Detection Rates
• 100% Acrania, anencephaly, ectopia cordis, encephalocele
• 50-90% DORV, gastroschisis, omphalocele, holoprosencephaly, limb reduction, megacystis
• 1-49% Spina bifida, hydrocephalus, skeletal dysplasia, facial cleft
![Page 19: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/19.jpg)
Suggested Anatomical Assessment 11-13+6 Weeks
Head
• Present
• Cranial bones
• Midline falx
• Choroid-plexus-filled
ventricles
![Page 20: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/20.jpg)
Encephalocele
![Page 21: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/21.jpg)
Cephalocele
![Page 22: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/22.jpg)
Cephalocele
![Page 23: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/23.jpg)
Cephalocele
![Page 24: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/24.jpg)
First Trimester Normal Choroid Plexus
Butterfly
![Page 25: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/25.jpg)
Holoprosencephaly
Sepulva JUM 2004; 23:761
![Page 26: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/26.jpg)
Holoprosencephaly
Sepulva JUM 2004:23:761
![Page 27: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/27.jpg)
Suggested Anatomical Assessment 11-13+6 Weeks
Face
• Eyes with lens
• Nasal bone
• Normal profile/mandible
• Intact lips
![Page 28: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/28.jpg)
Increased NT Orofacial Clefts
• N=8638
• NT increased in 714 (8.6%),
513, (5.9%) euploid
• CL and or CL&CP in 18, rate 2.2/1000
• Increased NT risk 19.5/1000
• NT < 95% risk 1/1000, (same as general population)
Timmerman E. Ultrasound Obstet Gynec 2010;36:427
![Page 29: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/29.jpg)
First Trimester Ultrasound Cleft Palate
• Retronasal triangle: 3 echogenic lines formed by 2 processes of the maxilla and palate, in the coronal section of the fetal face posterior to the nose
• Fetuses with cleft palate will have an abnormally shaped retronasal triangle
Sepulveda W, UOG 2010;25:7
![Page 30: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/30.jpg)
Normal Retronasal Triangle
Sepulveda 2010
![Page 31: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/31.jpg)
Retronasal
Triangle
![Page 32: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/32.jpg)
Retronasal Triangle Unilateral Clefting
Sepulveda 2010
![Page 33: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/33.jpg)
Holoprosencephaly and Cleft Palate
Sepulveda 2010
![Page 34: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/34.jpg)
Bilateral Cleft Lip
Sepulveda 2010
![Page 35: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/35.jpg)
Facial Profile Dysmorphism
• Agnathia (Otocephaly): rare anomaly complete or severe hypoplasia of the mandible
• Micrognathia: small mandible
• Retrognathia: posterior displacement
• Mandible can be seen as early as 10 weeks
![Page 36: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/36.jpg)
Facial Profile Dysmorphism Micrognathia/Retrognathia
• Important phenotype of many syndromes
• The mandible requires several elements from different embryonic components to interact and fuse
• Susceptible to a series of molecular and genetic insults
![Page 37: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/37.jpg)
Micrognathia
Paladini D, UOG;2010:35:377
Fetal akinesia
deformation sequence Orofacialdigital syndrome
Acrofacial dysostosis
![Page 38: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/38.jpg)
Facial Profile Dysmorphism Syndromes
• Acrofacial dystosis AD
• Treacher Collins AR
• Branchio-oculofacial AD
• Cerebrocostomandibular AD, AR
• Orofaciodigital
• Robin Sequence AD
![Page 39: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/39.jpg)
Facial Profile Dysmorphism Aneuploidy
• Trisomy 13, 18, 8, 9
• Deletion 3p, 4p, 5p
• Pallister-Killian
• Monosomy X
• Deletion 22q 11.2, 13q, 11q, 9q
• Triploidy
![Page 40: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/40.jpg)
Facial Profile Dysmorphism Diagnosis
• Subjective: small or receding chin with prominent upper lip
• Objective: small A-P measurement between the two rami (Jaw Index) and decrease in the inferior facial angle (IFA)
• Midfacial Hypoplasia: increased frontomaxillary facial angle, (FMF)
• Retrognathia: Decrease in the Inferior facial angle, (IFA)
![Page 41: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/41.jpg)
Frontomaxillary Facial Angle (FFA)
![Page 42: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/42.jpg)
Facial Profile Dysmorphia
Mandible IFA
Borenstein M. UOG 2007;30:928
![Page 43: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/43.jpg)
Micrognathia First Trimester
Maxilla
Mandible
Paladini, D UOG 2010;35:377
![Page 44: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/44.jpg)
Facial Profile Dysmorphia 1st Trimester
Normal Trisomy 18
Borenstein M. UOG 2007;30:928
![Page 45: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/45.jpg)
Facial Profile Dysmorphism
• Check for other anomalies
• Determine karyotype (44-65% aneuploid)
• Consider Robin Sequence
• Risk of recurrence: most are AD and AR
![Page 46: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/46.jpg)
Suggested Anatomical Assessment 11-13+6 Weeks
Spine
• Vertebrae (longitudinal and axial)
• Intact overlying skin
![Page 47: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/47.jpg)
Intracranial Translucency
Chaoui R, OUG 2009;34:249
![Page 48: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/48.jpg)
Intracranial Transluceny Spina Bifida
Compression of the 4th ventricle Chaoui 2009
![Page 49: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/49.jpg)
First Trimester U/S Spina Bifida
• Screening with MSAFP
• Ultrasound second trimester
*Spine
*Scalloping of the frontal bones
*Caudal displacement of the cerebellum
![Page 50: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/50.jpg)
Intracranial Translucency
Chaoui R, OUG 2009;34:249
![Page 51: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/51.jpg)
First Trimester Diagnosis Spina Bifida
• Midsagittal view of the fetal face
• 4th ventricle is between the brainstem and the choroid plexus
• In spina bifida the 4th ventricle is compressed by the caudally displaced hindbrain and cannot be visualized
Chaoui, R UOG 2009;34:249
![Page 52: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/52.jpg)
Intracranial Translucency
Chaoui UOG 2010;35:133
![Page 53: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/53.jpg)
Suggested Anatomical Assessment 11-13+6 Weeks
Chest
• Symmetrical lung fields
• No effusions or masses
![Page 54: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/54.jpg)
Pleural Effusion 8 w 5d
![Page 55: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/55.jpg)
Suggested Anatomical Assessment 11-13+6 Weeks
Heart
• Cardiac regular activity
• Four symmetrical
chambers
![Page 56: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/56.jpg)
13+4/7 Week 4 CH View
Red
![Page 57: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/57.jpg)
13+4/7 Week ROFT
Blue Down
![Page 58: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/58.jpg)
13+4/7 weeks LOFT
Red Up
![Page 59: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/59.jpg)
Increased NT Cardiac Defects
Literature Review
• N=3448
• 2.5-3.4 mm, 17/1000
• >3.5 mm, 78.4/1000
• FPR (NT cutoff 2.5-3.0), 4.9%
• Detection Rate 37.5%
Souka AP, AJOG 2005;192:1005
![Page 60: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/60.jpg)
Increased NT >95% Cardiac Defects
• Left sided defects highest sensitivity
• HLHS 67%
• TGV 50%
• Coarcation 100%
• VSD 50%
• TOF 22%
Hyett JA, BMJ 1999;318:81
![Page 61: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/61.jpg)
Increased NT Cardiac Defects
Protocol
• Transvaginal ultrasound at 13-15 weeks
• Targeted ultrasound at 18 weeks
• Echocardiogram at 22-26 weeks
![Page 62: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/62.jpg)
Ectopic Cordis
![Page 64: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/64.jpg)
Suggested Anatomical Assessment 11-13+6 Weeks
Abdomen
• Stomach present in
upper left quadrant
• Bladder
• Kidneys
![Page 65: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/65.jpg)
Increased NT 11w3d
![Page 66: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/66.jpg)
13+3/7 Weeks
![Page 67: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/67.jpg)
Case 13+3/7 Weeks
Right Left
![Page 68: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/68.jpg)
15+3/7 Weeks
![Page 69: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/69.jpg)
Congenital Diaphragmatic Hernia 15=3/7 Weeks
![Page 70: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/70.jpg)
Increased NT Diaphragmatic Hernia
• 1/4000
• Aneuploidy and other anomalies 50%
• Venous congestion probable cause of nuchal edema
• 37% of all cases of CDH
• 83% of those with NND secondary to pulmonary hypoplasia
• 22% of survivors
![Page 71: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/71.jpg)
13+3/7 Weeks
![Page 72: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/72.jpg)
First Trimester Diaphragmatic Hernia
Normal CDH
![Page 73: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/73.jpg)
Omphalocele
![Page 74: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/74.jpg)
Omphalocele Risk of aneuploidy
• 8-10 weeks all fetuses have midgut herniation
• By 11 5/7 weeks the midgut heniation has retracted
• Neonate with omphalocele risk of aneuploidy 15%
• Second trimester risk is 30%
• 11 4/7-13 6/7 risk is 55-61%
• NT > 2.5, risk is 85%
• NT < 2.5, risk is 4%
Snijders, Ultrasound Obstet Gynec 1995;6:250
![Page 75: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/75.jpg)
First Trimester Bladder
![Page 76: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/76.jpg)
First Trimester Megacystis
![Page 77: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/77.jpg)
First Trimester U/S Megacystis
![Page 78: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/78.jpg)
Megacystis
8 mm
![Page 79: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/79.jpg)
Increased NT Megacystis
• ≥ 7 mm longitudinal diameter
• Trisomy 13 & 18 in 23.6-31.4%
• Euploidy spontaneously resolves in 90%
• >15 mm indicates obstructive uropathy
Kagan KO Ultrasound Obstet Gyn 2010;35:10
![Page 80: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/80.jpg)
Evaluation for Bladder Extrophy
• Bladder extrophy is a rare and severe malformation, (1/25-50K)
• Prenatal diagnostic signs include absent bladder, low insertion of the umbilical cord with normal kidneys and amniotic fluid volume.
• There may be a lower protruding abdominal mass
• There may be a reduced fetal umbilical cord insertion-to-genital tubercle measurement in early gestation
![Page 81: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/81.jpg)
Evaluation for Bladder Extrophy
• Prospective cross-sectional study evaluation of 140 patients
• UC insertion-to-genital tubercle length measured in midsagittal section
• Successful measurements were obtained on 134 patients 12-18 weeks
• Two cases with bladder extrophy were <95%
• 12 weeks <11.28 mm, 13 weeks <12.00 mm
Gilboa Y, J Ultrasound Med 2011;30:237
![Page 82: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/82.jpg)
Evaluation for Bladder Extrophy
Genital
Tubercle
Cord
Insertion
![Page 83: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/83.jpg)
Evaluation for Bladder Extrophy
![Page 84: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/84.jpg)
Suggested Anatomical Assessment 11-13+6 Weeks
Extremities
• Four limbs each
with three segments
• Hands and feet
with normal orientation
![Page 85: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/85.jpg)
View of Arm @ 12w2d
![Page 86: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/86.jpg)
Fetal Hand 12w2d
![Page 87: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/87.jpg)
Syrinomelia
![Page 88: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/88.jpg)
Anatomy Screen First Trimester
• Skull
• Cerebral midline echo
• Orbits
• Facial profile
• Spine
• Heart
• Stomach
• Anterior abd wall
• Kidneys
• Bladder
• Upper and lower limbs
• Hands and fingers
• Feet and Toes
![Page 89: The First Trimester Anatomy Scan - NCUSncus.org/files/fall2014/albert.pdf · The First Trimester Anatomy Scan John R. Allbert, MD Novant Maternal-Fetal Medicine Associates . ... Author](https://reader030.fdocuments.us/reader030/viewer/2022040902/5e74cd6dca28187c61590b99/html5/thumbnails/89.jpg)
Detection Rates 11-14 Weeks Rossi, AC Obstet Gynecol 2013;122:1160