- 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
AVSD : Atrioventricular septal defect results from failure of endocardial cushion development, leading to:
- Ostium primum atrial septal defect
- Inlet ventricular septal defect
- A common atrioventricular valve instead of separate mitral and tricuspid valves
Single most important prognostic discriminator is:
Balanced vs unbalanced AVSD
Balanced AVSD
Anatomy
- Common AV valve committed proportionately to both ventricles
- Right and left ventricles adequate in size
- Biventricular circulation feasible
Balanced complete AVSD is the classic cardiac lesion of Down syndrome.
Prognosis
- In-utero: usually stable
- Surgery: biventricular repair at 3–6 months
- Survival: >95% in modern series
- Re-intervention: 10–20% (mostly AV valve regurgitation)
Unbalanced AVSD
Anatomy
- Common AV valve predominantly committed to one ventricle
- One ventricle hypoplastic (usually LV)
- Biventricular repair not feasible
- Functionally single-ventricle physiology
Prognosis
- In-utero: higher risk of AV valve regurgitation, hydrops
- Postnatal course: single-ventricle palliation (Norwood/Glenn/Fontan)
- Long-term survival: lower than balanced AVSD
- Morbidity: high (arrhythmias, ventricular dysfunction, Fontan failure)
Partial AVSD
- Primum ASD with cleft mitral valve
- Less genetic association than complete AVSD
- Often balanced physiology
- Good surgical outcomes
- Trisomy 21 still relevant but less frequent
Counseling
Balanced AVSD
- High likelihood of chromosomal abnormality
- Surgery highly successful
- Expect normal lifespan after repair
- Main long-term issue: AV valve function
Unbalanced AVSD
- Often syndromic
- Single-ventricle pathway
- Higher mortality and morbidity
- Genetic diagnosis strongly influences decision-making
Balanced AVSD is primarily a genetic counseling diagnosis with excellent surgical outcomes, whereas unbalanced AVSD is primarily a physiologic diagnosis with complex long-term morbidity.
Genetic associations
Strong associations
- Trisomy 21 (Down syndrome)
- ~40–50% of AVSDs
- Balanced complete AVSD is the classic lesion
- Heterotaxy syndromes
- Especially left atrial isomerism
- 22q11.2 deletion (less common but relevant)
- Single-gene disorders
- CRELD1 (familial AVSD)
- Ellis–van Creveld syndrome
- RASopathies (rare)
Prenatal testing recommendations
- Invasive testing strongly recommended even if isolated
- CMA preferred over karyotype
- If heterotaxy or extracardiac anomalies: consider WES
Associated extracardiac findings
More common when syndromic:
- Duodenal atresia (Down syndrome)
- Absent nasal bone, short long bones
- GI malrotation (heterotaxy)
- Polysplenia / asplenia
- Persistent left SVC
Natural history in utero
- Usually hemodynamically well tolerated
- AV valve regurgitation may worsen with gestation
- Rare progression to imbalance
- Fetal demise is uncommon unless:
- Severe regurgitation
- Associated aneuploidy with complications
- Arrhythmia (heterotaxy)
Postnatal physiology
After birth:
- Large left-to-right shunt
- Pulmonary overcirculation
- Congestive heart failure by 4–8 weeks
- Failure to thrive if untreated
Surgical management
Timing
- Definitive repair at 3–6 months of age
- Earlier if:
- Severe AV valve regurgitation
- Pulmonary hypertension
- Failure of medical therapy
Surgical principles
- Closure of primum ASD and inlet VSD
- Division and reconstruction of common AV valve
- Creation of competent mitral and tricuspid valves
Balanced anatomy allows biventricular repair in >95% cases.
Surgical outcomes
Survival
- Modern surgical survival: >95%
- Long-term survival into adulthood is common
Reintervention risk
- 10–20% may need:
- AV valve repair (especially left AV valve)
- Rare reoperation for LVOT obstruction
Effect of genetics
- Down syndrome
- Similar or better surgical survival
- Slightly higher AV valve regurgitation risk
- Heterotaxy: worse outcomes
Long-term prognosis
If isolated and balanced
- Excellent functional outcome
- Normal or near-normal exercise tolerance
- Lifelong cardiology follow-up required
Neurodevelopment
- Driven more by genetics than the heart lesion itself
- Isolated AVSD with normal genetics: good outcomes
- Trisomy 21: baseline cognitive profile applies
Pregnancy and adulthood
- Many patients reach reproductive age
- Pregnancy generally well tolerated after successful repair