- Fetal Upturned Nose
- IgA Nephropathy in Pregnancy
- Umbilical vein varix
- Timing of Cranial Markers in Open NTD
- Real world experience Open Neural tube defect and Brain Signs
- Real world experience First Trimester Megacystis – Management
- Real world experience Fetal Megacystis
- Abnormal facial profile
- Azygous Vein & ARSA
- Blakes Pouch Cyst
- Absent nasal bone (ANB)
- Choroid plexus cysts
- Chronic placental abruption
- Fetal Alcohol Syndrome
- Placenta-First Risk Stratification
- AVSD
- Blakes Pouch Cyst
- Confined Placental Mosaicism
- Echogenic Bowel
- Fetal Anemia
- Fetal Club Foot
- Fetal Mild Micromelia
- Hypochondroplasia – Mild Micromelia
- Hypoplastic Nasal Bone
- IgM IgG IgG Avidity
- Increased Nuchal Translucency
- Isotretinoin in Pregnancy
- Partial agenesis of corpus callosum
- PGT A
- PGT-A Mosaicism to CPM
- Placenta First - CPM
- Radiation exposure during pregnancy
- Real world Chorionic bump experience
- Real world Fetal Isotretinoin exposure
- Real world Increased Nuchal Translucency & Genetic RISK
- Real world Renal Pyelectasis
- Real world Transient NT & Cystic Hygroma
- Real world Transient NT
- Renal Pyelectasis or Extra Renal Pelvis
- Right And Double Aortic Arch
- Short Femur Length Foot FL ratio
- Y Microdeletion
- CCAM CPAM
- Coffin–Siris syndrome
- Congenital CMV Infection
- Increased NT and Localized CHAOS
- Indomethacin and Reduction for AFI
- Atrioventricular septal defect (AVSD)
- Choledochal cyst & Cystic biliary atresia
- Duodenal Atresia
- Fetal atrial bigeminy
- Fetal Dilated stomach
- Mutation Types in DMD
- Risk of rubella in nonimmune pregnant woman
- Salt-losing nephropathy
- Syndromic Cystic biliary atresia
- TGA DORV TOF CCTGA
- Unilateral echogenic kidney with polyhydramnios
- Unilateral renal agenesis, Ectopic, Cross fused kidney
Fetal Upturned Nose
Anteverted nares with a short nasal tip on profile view is a subtle but important soft marker.
Its significance depends heavily on associated findings, gestational age, and family phenotype.
Short nasal tip with upward rotation of nostrils
Often associated with:
• Short nasal bone
• Flat midface
• Depressed nasal bridge
Etiology
Normal / constitutional
• Common in:
o Certain ethnic groups, Familial facial traits
• If isolated, normal NT, normal anatomy → often benign
Chromosomal abnormalities
• Down syndrome
o Flat face, small nose, upturned nares
o Often with:
Absent/hypoplastic nasal bone
Increased NT
Cardiac defects
Others:
• Trisomy 18, Trisomy 13, Triploidy
Monogenic syndromes
Craniofacial syndromes
• Apert syndrome
o Midface hypoplasia → relative upturned nose
• Crouzon syndrome
• Pfeiffer syndrome
Skeletal dysplasias
• Short face + depressed bridge → apparent upturn
• Thanatophoric dysplasia (FGFR3)
Other syndromes
• Smith-Lemli-Opitz syndrome
• Noonan syndrome
o Short nose, anteverted nares
• Cornelia de Lange syndrome
Midface hypoplasia spectrum
• Seen in:
o Skeletal dysplasias
o Craniosynostosis
o Genetic syndromes
• Mechanism: maxillary underdevelopment → nose appears upturned
Environmental / teratogenic (less common)
• Retinoic acid exposure
• Severe growth restriction (facial disproportion)
Practical interpretation
• Isolated upturned nose = weak marker
• Upturned nose + midface hypoplasia = red flag
• Upturned nose + absent nasal bone = strong T21 suspicion
• Upturned nose + syndromic features = think monogenic
Microdeletion / duplication syndromes where upturned nose may occur 22q11.2 deletion syndrome; DiGeorge syndrome, Velocardiofacial syndrome
May show:
• tubular/small/upturned nose
• conotruncal cardiac defects
• thymic hypoplasia
• cleft palate
Prenatally:
• cardiac anomalies dominate
• facial signs alone are usually subtle
1p36 deletion syndrome
Can show:
• midface hypoplasia
• short nose
• anteverted nares
Associated:
• ventriculomegaly
• cardiomyopathy
• growth restriction
Wolf-Hirschhorn syndrome, (4p deletion syndrome)
Usually:
• abnormal profile
• hypertelorism
• micrognathia
• growth restriction
Cri du chat syndrome, 5p deletion syndrome or Lejeune syndrome
Can have:
• broad/upturned nose
• facial dysmorphism
• severe neurodevelopmental impact
Duplication syndromes
• 7q duplication
• 9p duplication
• 17p duplication
• subtelomeric CNVs
Important practical point
Facial soft markers alone are poor predictors of CNVs
An isolated upturned nose has:
• low specificity
• high normal variation
The predictive value for microdel/dup becomes meaningful when associated with:
• CHD
• ventriculomegaly
• clefting
• skeletal anomalies
• FGR
• abnormal hands/feet
• polyhydramnios
• increased NT/NF