Diagnostic sonography SCRS: Absent Nasal Bone

Absent Nasal Bone

Figer-1

📄 Report Sample Line- Absent nasal bone(During First Trimester / NT Screening)
Nasal bone not visualized in the mid-sagittal view. Considered to absent nosal bone.

Conclussion: 📋 Absent nasal bone is a significant soft marker associated with an increased risk of aneuploidies, particularly Trisomy 21, Trisomy 18, and Trisomy 13
Recommendation: Recommend comprehensive risk assessment including nuchal translucency (NT) measurement, maternal serum screening (PAPP-A, free β-hCG).

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Diagnostic Sonography

SCRS

Ultrasound Physics

Abdominal Sonography

Urology & Male Pelvis

Pelvic Ultrasound (GYN)

Obs- 1st trimester

Obs- 2 & 3rd trimester

Obs- Fetal malformation

Supratentorial Anomalies

A-Ventricular Abnormalities

1. Ventriculomegaly

2. Hydrocephalus

3. Colpocephaly

4. Asymmetric Ventricles

B- Midline Brain & Commissural Anomalies
1. Agenesis of the Corpus Callosum (ACC)

2. Interhemispheric Cyst (Type I)

3. Cyst of Septum Pellucidum

4. Absent Cavum Septi Pellucidi (CSP)

5. Septo-Optic Dysplasia (SOD)

6. Commissural Abnormalities (e.g., fused, absent, or hypoplastic commissures)

C- Prosencephalon Malformations
1. Holoprosencephaly (HPC1)

1.1 Alobar

1.2 Semilobar

1.3 Lobar

2. Middle Interhemispheric Variant (MIH)

3. Septo-optic dysplasia (also listed in midline)

D. Neuronal Migration Disorders
1. Lissencephaly

Agyria

Pachygyria

Subcortical Band Heterotopia

2. Gray Matter Heterotopia

3. Classical (Type I) Lissencephaly

4. Cobblestone Lissencephaly / Walker-Warburg Syndrome

5. Polymicrogyria

6. Schizencephaly (Open or Closed-lip)

E- Cortical Development Abnormalities
1. Hemimegalencephaly

2. Megalencephaly / Macrocephaly

3. Microcephaly (Isolated or Secondary)

F- Neurocutaneous Syndromes
1. Tuberous Sclerosis

Subependymal Nodules

Cortical Tubers

2. Neurofibromatosis Type 1

G- Intracranial Cysts
1. Arachnoid Cyst

2. Choroid Plexus Cyst

3. Glioependymal / Neuroglial / Ependymal / Choroidal Cyst

4. Germinolytic / Subependymal Cyst

H- Intracranial Tumors
1. Intracranial Teratoma

2. Gliomas

3. Choroid Plexus Papilloma / Carcinoma

4. Craniopharyngioma (rare fetal diagnosis)

I- Destructive / Acquired Lesions
1. Hypoxic Ischemic Injury (HII)

2. Porencephaly

3. Hydranencephaly

4. Germinal Matrix Hemorrhage

5. Extra-axial Hemorrhage

6. Dural Sinus Thrombosis

J- Infections with Supratentorial Impact
1. Cytomegalovirus (CMV)

Periventricular Calcifications

Ventriculomegaly

2. Toxoplasmosis

Hydrocephalus

Diffuse Calcifications

3. Zika Virus

Severe Microcephaly

Cortical Atrophy & Calcifications

4. HSV, Rubella, Syphilis, etc.

Central Nervous System Infections

1. Cytomegalovirus (CMV)

Periventricular calcifications

Ventriculomegaly

Microcephaly

Intracranial cysts

2.Toxoplasmosis

Hydrocephalus

Intracranial calcifications (diffuse)

Ventriculomegaly

Hepatosplenomegaly

3. Zika Virus

Severe microcephaly

Cortical/subcortical calcifications

Cortical atrophy

Ventriculomegaly

Herpes Simplex Virus (HSV)

Ventriculomegaly

Microcephaly

Intracranial calcifications

Rubella

Microcephaly (less specific)

Cataracts (if eye scan done)

Cardiac defects (non-CNS)

Syphilis
Hepatosplenomegaly

Ascites, hydrops

Cerebral abnormalities rare but possible

Lymphocytic Choriomeningitis Virus

Microcephaly

Periventricular calcifications

Ventriculomegaly

Parvovirus B19 (rare CNS)

Not directly CNS—causes hydrops May cause cerebral ischemia from anemia

Varicella Zoster Virus (VZV)

Cerebral cortical atrophy

Limb hypoplasia

Ventriculomegaly

Enteroviruses

Rare CNS effects

Can cause brain necrosis, calcifications

Posterior Fossa Anomalies

1. Dandy-Walker Malformation

Enlarged posterior fossa

Cystic dilatation of the 4th ventricle

Elevation and agenesis or hypoplasia of cerebellar vermis

2. Dandy-Walker Variant (Vermian Hypoplasia)

Partial vermian agenesis

Mildly enlarged 4th ventricle

Normal-sized posterior fossa

3. Blake’s Pouch Cyst

Cystic lesion posterior to an intact vermis

Communication with 4th ventricle

Normal cerebellar hemispheres

4. Mega Cisterna Magna

Enlarged cisterna magna (>10 mm)

Normal vermis and 4th ventricle

5. Vermian Agenesis / Hypoplasia

Absent or small cerebellar vermis

Suspicion on mid-sagittal view

Cerebellar Hypoplasia

Small cerebellar hemispheres

Transcerebellar diameter below gestational norms

7. Rhomboencephalosynapsis

Absence of vermis

Fusion of cerebellar hemispheres

Narrow or absent 4th ventricle

8. Joubert Syndrome (possible signs)

Molar tooth" sign on MRI

May see vermian hypoplasia

Possible associated polydactyly, hypotonia

9. Posterior Fossa Arachnoid Cyst

Extra-axial cyst

Mass effect on cerebellum

No communication with 4th ventricle

Orbital Anomali

A- Structural Orbital Anomalies

1. Hypertelorism

2. Hypotelorism

3. Cyclopia

4. Anophthalmia

5. Microphthalmia

6. Coloboma

7. Dacryocystocele

B. Syndromic Associations

1. Walker–Warburg Syndrome

2. Matthew-Wood Syndrome

3. Aicardi Syndrome

C. Craniofacial Disorders

1. Holoprosencephaly

2. Frontonasal Dysplasia

3. Craniosynostosis (Pfeiffer Syndrome)

Facial anomali

Syndromic Associations
1. Walker–Warburg Syndrome

2. Matthew-Wood Syndrome

3. Aicardi Syndrome

4. CHARGE Syndrome

5. Goldenhar Syndrome

Craniofacial Disorders
1. Holoprosencephaly

2. Frontonasal Dysplasia

3. Craniosynostosis (Pfeiffer Syndrome)

4. Ethmocephaly

5. Cebocephaly

6. Otocephaly

Fetal Facial Anomalies
1. Absent Nasal Bone

2. Ethmocephaly

3. Cebocephaly

4. Median Cleft Lip and Palate

5. Bilateral Cleft Lip and Palate

6. Arhinia

7. Single Nostril with Alobar Holoprosencephaly

8. Proboscis

9. CHARGE Syndrome

10. Cleft Lip and/or Palate (CLP)

11. Nasal Glioma

12. Midface Hypoplasia

13. Microform Cleft Lip

14. Unilateral Complete Cleft Lip and Palate

15. Bilateral Complete Cleft Lip and Palate

16. Cleft Palate and Micrognathia

17. Micrognathia

18. Tessier Cleft

19. Lymphatic Malformation Invading Tongue Base

20. Micrognathia with Trisomy 18

21. Robin Sequence

22. Otocephaly

23. Low-set Ears

24. Microtia/Anotia

25. Hemifacial Microsomia

26. Goldenhar Syndrome

Neural Tube Defects

1. Cranium Anomalies

1.1 Anencephaly

1.2 Exencephaly

1.3 Encephalocele

1.4 Acrania

1.5 Craniorachischisis

2. Spine Anomalies

2.1 Spina Bifida Aperta

2.2 Spina Bifida Occulta

2.3 Meningocele

2.4 Myelomeningocele

2.5 Rachischisis

2.6 Tethered Cord

Fetal neck anomali

1. Cystic Hygroma

2. Cervical Thymic Cyst

3. Branchial Cyst

4. Ranula

5. Thyroglossal Duct Cyst

6. Dermoid/Epidermoid

7. Thyroid Goiter

8. Lymphatic Malformation

9. Venous Malformations (Parkes–Weber syndrome)

10. Hemangioma

11. Cervical Teratoma

12. Epignathus

13. Congenital Epulis

14. Occipital Encephalocele

Fetal Cardiac Anomalies

1. Hypoplastic Left Heart Syndrome (HLHS)

2. Hypoplastic Right Heart Syndrome

3. Atrioventricular Septal Defect (AVSD)

4. Ventricular Septal Defect (VSD)

5. Atrial Septal Defect (ASD)

6. Tetralogy of Fallot (TOF)

7. Transposition of the Great Arteries (TGA)

8. Double Outlet Right Ventricle (DORV)

9. Truncus Arteriosus

10. Pulmonary Atresia

11. Tricuspid Atresia

12. Ebstein's Anomaly

13. Aortic Stenosis

14. Pulmonary Stenosis

15. Coarctation of the Aorta

16. Interrupted Aortic Arch

17. Total Anomalous Pulmonary Venous Return (TAPVR)

18. Partial Anomalous Pulmonary Venous Return (PAPVR)

19. Cardiomyopathy (Dilated, Hypertrophic)

20. Cardiac Rhabdomyoma

21. Pericardial Effusion

22. Fetal Heart Block

23. Bradyarrhythmias

24. Tachyarrhythmias

Fetal Thoracic Anomalies

1. Congenital Pulmonary Airway Malformation (CPAM)

2. Bronchopulmonary Sequestration (BPS)

3. Congenital Diaphragmatic Hernia (CDH)

4. Congenital Lobar Emphysema (CLE)

5. Bronchogenic Cyst

6. Pleural Effusion (Hydrothorax)

7. Chylothorax

8. Thoracic Lymphangioma

9. Mediastinal Masses (e.g., Teratoma)

10. Pulmonary Hypoplasia

11. Skeletal Dysplasia affecting thorax (e.g., Thanatophoric Dysplasia)

Fetal Gastrointestinal Anomalies

1. Esophageal Atresia

2. Duodenal Atresia

3. Jejunal and Ileal Atresia

4. Colonic Atresia

5. Anorectal Malformation

6. Meconium Peritonitis

7. Bowel Obstruction

8. Echogenic Bowel

9. Abdominal Calcifications

10. Hepatic Cysts

11. Hepatic Hemangioma

12. Hepatomegaly

13. Liver Calcification

14. Ascites

15. Omphalocele

16. Gastroschisis

17. Body Stalk Anomaly

18. Pentalogy of Cantrell

19. Limb Body Wall Complex

Fetal Genitourinary Anomalies

Renal Anomalies

1. Renal Agenesis

2. Autosomal Recessive Polycystic Kidney Disease (ARPKD)

3. Autosomal Dominant Polycystic Kidney Disease (ADPKD)

4. Multicystic Dysplastic Kidney

5. Simple Renal Cyst

6. Renal Hypoplasia

7. Renal Dysplasia

8. Duplex Kidneys

9. Horseshoe Kidneys

10. Crossed Fused Renal Ectopia

11. Pelvic Kidney

12. Inflammatory Hypertrophy

13. Ischemic Kidney

14. Renal Vein Thrombosis

15. Tubular Dysgenesis

16. Congenital Nephrotic Syndrome

17. Subcapsular Renal Cysts

18. Glomerulocystic Disease

19. Obstructive Cystic Dysplasia

Bladder and Urethral Anomalies

1. Posterior Urethral Valves (PUV)

2. Megacystis

3. Megalourethra

4. Primary Megaureter

5. UPJ Obstruction

6. Urinoma with UPJ Obstruction

7. Vesicoureteric Reflux (VUR)

8. VUR with Hypodysplastic Kidneys

9. Ureterocele

10. Bilateral Mild Pyelectasis

11. Megacystis–Microcolon–Hypoperistalsis Syndrome

Adrenal and Associated Anomalies

1. Adrenal Cortical Cyst

2. Adrenal Hemorrhage

3. Cortical Adenoma

4. Adrenal Dysplasia

5. Adrenal Dysplastic Cortical Cyst

6. Congenital Adrenal Hyperplasia

7. Neuroblastoma

Syndromic Associations

1. Meckel–Gruber Syndrome

2. Bardet–Biedl Syndrome

3. Joubert Syndrome

4. Simpson–Golabi–Behmel Syndrome

Other Associated Anomalies

1. Mesoblastic Nephroma

2. Wilm Tumor

3. Intra-abdominal Pulmonary Sequestration

4. Duplication Cyst

Lethal Skeletal Dysplasias

1. Achondrogenesis

1.1 Achondrogenesis Type 1A

1.2 Achondrogenesis Type 1B

1.3 Achondrogenesis Type 2

2. Atelosteogenesis

2.1 Atelosteogenesis Type I

2.2 Atelosteogenesis Type II

3. Campomelic Dysplasia / Bent-Limb Dysplasia

4. Chondrodysplasia Punctata

5. Metatropic Dysplasia

6. Pacman Dysplasia

7. Perinatal Lethal Hypophosphatasia

8. Osteogenesis Imperfecta (Lethal Type)

9. Short Rib Polydactyly Syndromes (SRPS)

9.1 SRPS Type 1 (Saldino-Noonan)

9.2 SRPS Type 2 (Majewski)

9.3 SRPS Type 3 (Verma-Naumoff)

9.4 SRPS Type 4 (Beemer-Langer)

10. Thanatophoric Dysplasia

10.1 Thanatophoric Dysplasia Type I

10.2 Thanatophoric Dysplasia Type II

Non-Lethal Skeletal & Limb Abnormalities

1. Clubfoot (Talipes Equinovarus)

2. Rocker Bottom Foot

3. Polydactyly

4. Syndactyly

5. Radial Ray Abnormality

6. Amelia (Absence of Limb)

7. Hemimelia (Partial Absence of Limb)

8. Phocomelia

9. Limb Reduction Defects

10. Arthrogryposis Multiplex Congenita

11. Congenital Joint Dislocation (e.g., Hip, Knee)

12. Skeletal Dysplasia (Non-lethal types)

13. Diastrophic Dysplasia

14. Larsen Syndrome

15. Multiple Pterygium Syndrome

16. Proximal Femoral Focal Deficiency (PFFD)

17. Nail-Patella Syndrome

18. Congenital Contractures

19. Caudal Regression Syndrome

20. Split Hand/Foot Malformation (Ectrodactyly)

Hydrops

1. Hydrops fetalis

2. Neurenteric cyst

3. Isolated fetal ascites

4. Twin Reversed Arterial Perfusion (TRAP)

5. Extensive lymphedema

6. Primary chylothorax

7. Lymphangiectasia

8. Hydropic changes with Down syndrome

9. Vein of Galen Malformation

10. Turner syndrome

11. Immune Fetal Hydrops (Ascites)

12. Skin edema/Anasarca

13. Placental edema

14. Fetal Pericardial Effusion

15. Pleural effusions

Conjoined Twins

1. Thoracopagus Conjoined twin

2. Parapagus conjoined twin

3. Cephalopagus

4. Omphalopagus

5. Ischiopagus

6. Craniopagus

7. Pygopagus

8. Rachipagus

9. Parapagus conjoined twin

Fetus in fetu

1. “Living” oropharyngeal fetus in fetu

2. Intra-abdominal fetus in fetu

3. Intracranial fetus-in-fetu

complication in Multiple Gestation

1. Twin reversed arterial perfusion (TRAP) Sequence

2. Twin Anemia-Polycythemia Sequence (TAPS)

3. Twin-to-Twin Transfusion Syndrome (TTTS)

4. Stuck Twin Syndrome

5. Vanishing Twin Syndrome

6. Fetus papyraceus

Fetal Anomalies Associated with Maternal Serum AFP Elevations

1. Open Neural Tube Defects

1.1 Anencephaly

1.2 Spina Bifida

1.2.1 Meningocele

1.2.2 Myelomeningocele

1.3 Encephalocele

2. Abdominal Wall Defects

2.1 Gastroschisis

2.2 Omphalocele

2.2.1 Associated Chromosomal Abnormalities

2.2.2 Associated Cardiac Defects

3. Sacrococcygeal Teratoma

3.1 External Type

3.2 Internal/Intrapelvic Type

4. Renal Anomalies

4.1 Obstructive Uropathy

4.1.1 Posterior Urethral Valves

4.2 Hydronephrosis

5. Cystic Hygroma with Rupture
6. Skin Defects

6.1 Epidermolysis Bullosa

6.2 Amniotic Band Syndrome

7. Multiple Gestation

7.1 Discordant Growth

7.2 Vanishing Twin

8. Fetal Demise

8.1 Singleton

8.2 Co-Twin Loss

9. Congenital Nephrosis

10. Placental Lesions

10.1 Chorioangioma

10.2 Placental Abruption

10.3 Subchorionic Hemorrhage

11. Other Causes

11.1 Incorrect Gestational Dating

11.2 Maternal Hepatic Disease

11.3 Open Fetal Skin Lesions

Congenital Infections

Breast Ultrasound

Thyroid & Neck Ultrasound

Abdominal case study

128 Abdominal case study

Liver

Gallbladder & Biliary System

Gallbladder & Biliary System (Post-Procedural)

Spleen

Pancreas

Kidney

Ureter

Adrenal gland

Abdominal Aorta & IVC

Stomach

Small Bowel

Colon

Appendix

Peritoneum and Retroperitoneum

Contrast-Enhanced Ultrasound (CEUS)

Prostate

Urinary Bladder

Urethra

Scrotum & Testes

Penis

Seminal Vesicles

Elastography

CEUS for Prostate

Uterus

Adnexa and Ovary

Vagina

Menstrual Cycle Evaluation

Postmenopausal Uterus

CEUS for Ovarian Lesions

Trans Rectal Scan

Diagnostic sonography SCRS

Absent Nasal Bone

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