PreNatal - Boards

First Semester Combinded Serums Screening

Timing: 10-13.6 weeks

For: T13, T18, T21

Measures

• hCG

• PAPP-A

• ***Incorporates NY measurment****

Triple Screen

Timing: 15-22 weeks

For: ONTD, T18, T21

Measures

• AFP

• hCG

• unconjugated estriol (uE3)

Gestational vs. Conception Age

Gestational age: starts from last period

Conception age: starts from point of contpion

• GESTIONAL age is 2 weeks ahaed of conceptional/fertilzation age

• Example

  • 3-8 post-conception = weeks 5-10 gestional

Development: First Trimester

When: 0 - 13 weeks + 6 days

What

• Orga noesis: greatest concern for malformations for teratogens

Neural tube closes → heart forms → limbs develop → facial structures develop → major organ systems established

Development: 2nd Trimester

When: 14- 27 weeks + 6days

• Growth + functional development of established organs

• Anatomy becomes well visualized; fetal movement; viability begins near the end of this period

****Anatomy ultrasound around 18–22 weeks*****

• Brain

• Spine

• Heart

• Kidneys

• Limbs

• Face

Development: 3rd Trimester

When: 28 weeks - Birth

• Rapid growth + organ maturation, especially brain and lungs

• Major concern is functional effects, growth, and consequences of premature birth

  • Rapid brain growth

  • Lung maturation

  • Increasing fetal fat stores

  • Rapid weight gain

Quad Screen

Timing: 15-22 weeks

For: ONTD, T18, T21

Measures

• AFP

• hCG

• unconjugated estriol (uE3)

Analyte Results: T13

First Trimester:

• PAPP-A: -

• hCG: -

Analyte Results: T18

First Semester:

• PAPP-A: -

• hCG: -

• NT: +

Quad screen

• AFP: -

• hCG: -

• uE3: -

• Inhibin A: = (normal)

Analyte Results: T21

First Trimester:

• PAPP-A: -

• hCG: +

• NT measurement: +

Quad Screen

• AFP: -

• hCG: +

• uE3: -

• Inhibin A: +

Analyte REsult’s: Open Neural Tube Defects

Quad Screen

• AFP: +

Associated with:

• Open spina bifida / myelomeningocele

• Anencephaly

• Other open fetal defects

Estriol

Low uncongugated estriol is assoacted with

• Trisomy 18

• Trisomy 21

REALLY low uE3 is assaocted with

• Smith-Lemli-Opitz

• ***X-Linked Ichthyosis***

Maternal Factors Affecting Analyte Screening

"Age – Weight – Dating – Diabetes – Multiples – IVF"

• Maternal Age: Higher age affects risk calculation

  • Prior risk (age) × likelihood from serum markers/NT → adjusted pregnancy-specific risk

• Maternal Weight:

  • Lowered levels of everything

• Gestational Age: must match gestational age to expected levels of analytes

  • Abnormal serum screen → verify dating

• Diabetes: pregestational diabetes LOWERS AFP

  • AFP Decreased

• Multiple Gestation (Twins): maternal AFP HIHGER

  • AFP Increased

• Smoking

  • ***Decreased PAPP-A*** (most important)

  • Decreased hCG and uE3

  • Increased AFP and Inhibin A

• IVF

  • Increased AFP, hCG, InhinA

  • Decreased PAPP-A (can mirror T21/T18)

• Race

  • Black: Increased AFP

Non-Invasive Prenatal Screening

Measure: Cell Free DNA

• PLACENTAL DNA circulating in maternal bloodstream (called Fetal Fraction)

When

• >10 weeks (earlier than that → low fetal fraction → no call result)

What

• T13, T18, T21 (BEST PREFORMANCE)

• Sex an ploidy

• ***NOT OPEN NEURAL TUBE DEFECTS**** (still need anatomy US + maternal AFP with a normal NIPS)

Very High Sensitivity/Specificity for T21

• PPV depdens strongly on prevalcne/prior risk

  • 40yo vs 20yo with T21 NIPS: HIGHER FOR 40yo

  • T21 more prevalent in OLDER women

  • PPV = prevalence/prior risk + sensitivity + specificity

NIPS: Fetal Fraction

Minimum Threshold for NIPS = 4% Fetal Fraction

Causes for Low Fetal Fraction

• Early Gestational Age: FF increases as the baby grows bigger (duh)

• High Maternal Weight: Dilute down placental DNA

• Certain fetal aneuploidies: (T18, T13, Triploidy)

• Medications: Anticoagulants that have ***HEPARIN***

False Positives

• Confined Placental Mosaicism

• Vanishing Twin

• Maternal Chromosome Abnormality: CNV, sex chromosome mosaicm, chromosome abnormality

• Maternal Malignancy (Rare): multiple unusual/discordant chromosomal abnormalities on NIPS → COULD BE CANCER

False Negative

• Low Fetal Fraction

• Placental Mosaicicsm

Good Way to Remeber NIPS DNA sources

👩 MOTHER

Maternal mosaicism
Maternal CNVs
Maternal malignancy

🟣 PLACENTA

Confined placental mosaicism
Low fetal fraction

👶 PREGNANCY

Vanishing twin
True fetal aneuploidy

Diagnostic Testing: Chorionic Villus Sampling

When: 10-13 weeks (FIRST TRIMESTER)

What: Chorionic Villus (type of Placental Tissue)

• Need to culture the sample:

  • Cytotrophoblast: more placental lineage → quick test

  • Mesenchymal core: more fetal lineage → long culture but more representative

How:

• Transabdominal: Needle goes Abdomen → Uterus → Placenta

• Transvaginal: Catheter goes Cervix→ Placenta

Tests

• Karyotype

• Chromosomal Microarray

• Target Molecular Testing

• BUT CANNOT COLLECT FLUID

  • ****NO Open Neural Tube Defects (AFP)****

Risks

• Pregnancy Complications/Miscarriage: 1/250 - 1/1000

• Confined Placental Mosaicism (CPM): 1%

• Maternal Cell Contamination

Main Benefits: Earlier Diagnosis than Amnio

Main limitations: CPM, Maternal Cell contamination, cannot asses ONTD

• For ONTD: still need maternal serum AFP + anatomy ultrasound even with a CVS done

Amniocentesis

When: 15+ weeks

What: Fetal Derived Cells + Amniotic fluid (contain analytes)

• mostly from Skin, urinary tract, Respiratory/GI tract

• ***Confided placental Moscaim NOT a concern***

How: Ultrasound-Guided Needle removes amniotic fluid w/ fetal cells

• Abdomen → Uterus → Amniotic Cavity

Tests

• Karyotype

• Chromosomal Microarray

• Targeted Testing

• ****OPEN NEURAL TUBE DEFECTS****: AFP and Acetylcholinesterase (AChE)

Risks

• Percentage Complications/Miscarriage: 0.1-.3%

• Amniotic fluid leakage

• Infection

• ****Fetomaternal hemorrhage***: small amount of fetal blood (D-antigen) enters maternal circulation → Maternal immune System produces Anti-D antibodies

  • Future risk: anti-D abs cross placenta → cause Hemolytic Disease (Hydrops Fetalis) in future pregnancies

Main limitations: Fetal Derived Cells, Confirm Nips/CVS, No CPM

Main benefits: Later in pregnancy, Procedural risk,

1st Trimester

When: 0 - 13 weeks + 6 days

What: Organogenesis: the CRITICAL PERIOD occurs (0 - 9 Weeks)

• 0-2 Weeks (2-4 weeks GA): “all-or-None” Either Death or no major structural effect

• ****3-8 Weeks (5-10 weeks GA)****: Organogenesis - the main Teratogen Window and major structural birth defect

• 9 weeks - Birth: Growth and Function → CNS still remains vulnerable throughout pregnancy

2nd Trimester

3rd Trimester

Teratogens: Overview

When: Teratogens affect during the CRTICLA PERIOD 3-8 weeks GA

• BASE LINE RISK: 3-5% for Major Birth Defect with not Teratogenic Exposure

  • Need to distinguish BACKGROUND RISK from additional EXPOSUREA-ASSOACITED RISK

What:

• Medications

• Drugs/Alcohol

• Infections

• Radiation

• Maternal conditons

• Enviromantl Chemicals

Timing

• 0–2 weeks post-conception → all-or-none

• 3–8 → organogenesis

• 9+ → growth/function

• CNS remains vulnerable

Classic exposures

• Alcohol → face + growth + brain

• Isotretinoin → face + heart + CNS

• Thalidomide → limbs

• Valproate → NTD

• Warfarin → nasal hypoplasia + stippled epiphyses

• ACE-I/ARB → renal dysfunction + oligohydramnios

• Maternal diabetes → caudal regression

• Maternal PKU → microcephaly + ID + CHD

Infections

• CMV → periventricular calcifications + hearing loss

• Toxo → diffuse calcifications + hydrocephalus + chorioretinitis

• Rubella → cataracts + PDA + hearing loss

• 
  

[ exact agent + dose + timing + duration + route + maternal/fetal factors ]

Teratogens: Alcohol

Fetal Alcohol Syndrome

• GROWTH + FACE + BRAIN

There is NO SAFE AMOUNT of alcohol during pregnancy

Clinical Features

Growth

• Prenatal/postnatal growth restriction

Facial

• Smooth Philtrum

• Short Palpebral Fissure

• Ptosis

CNS

• ****Microcephaly****

• ****HOLOPROENCEPHALY****

• Intellectual/developmental disability

Other

• possible CHD and other anomalies

Ultrasound Findings

• ****HOLOPROENCEPHALY****

Teratogen: Isotretinoin / retinoic acid

What: Accutane

• FACE – HEART – CNS – THYMUS

• Also associated with Pregnancy Loss

Clinical Features

Face/Skull

• Craniofacial Abnormalities

Heart

• Cardiac Defects

CNS

• CNS Abnormalities

Thymus

• Thymus abnormalities

Teratogens: Thalidomide

LIMB REDUCTION DEFECTIONS

Clinical Features

Limbs

• ****Phocomelia****: hands/feet close to trunk, absent long bones

Other

• Ear abnormalities

• Eye Abnormalites

• Cardiac abnormalities

Teratogens: Valproic Acid

• an Anti-Convulsant

NEURL TUBE DEFECTS + CHD

Clinical Features

CNS

• Spina Bifida

• Neurodevelopmental impairment

Heart

• CHD

Craniofacial

• Abnormalities

Teratogens: Carbamazepine

• Anticonvulsant

• Lower risk than VAlporic Acid

OPEN NEURAL TUBE DEFECTs

• Craniofacial abnormalities

• Growth abnormalities

• Other congenital anomalies

Teratogens: Anti-Convulsants general

ONTDS + Clefting + CHD + Limbs + DD

• Antiseizure medications differ in teratogenic risk.

Teratogens: Warfarin

• Anticoagulant (crosses the placenta)

What: Fetal Warfarin Syndrome

• NASAL HYPOPLASIA + STIPPLED EPIPHYSES (c. puncata)

Clinical Features

Skeletal

• ****Chondrodysplasia punctata****:stippled calcifications in cartilage + bone

• Limb abnromalties

• Growth Restricion

CNS

• CNS abnomrlaties

Teratogens: ACE Inhibitors

• High blood pressure medications → blocks angiotensin II

• ***Critical Period in 2nd and 3rd Trimesters***

[ ACE inhibitor → fetal KIDNEYS → oligohydramnios + ***Potters Sequence** ]

Clinical Features

Renal

• Renal Anomalies

• ***Potters Sequence***

• Oligohydramnios

• Fetal Renal Failure

Pulmonary

• Pulmonary Hypoplasia (potters sequence + oligohydramnios)

Skeletal

• Skull ossification abnormalities

• Limb contractures/deformities

• Intrauterine Growth Restriction (oligohydramnios + potters sequence)

Teratogens: Tetracyclines

• Antibiotic

• Later-development exposure

TEETH + BONES

Clinical Features

• Tooth discoloration

• Bone/teeth development disruption

Teratogen: Aminoglycosides

• Antibiotic

  • STREPTOMYCIN inparitcualr

Ototoxicity

• FETAL HEARING IMPARIMENT

Teratogens: Methotrexate

• Folate antagonist

[ Methotrexate → inhibits folate metabolism → disrupts rapidly dividing cells ]

Associated with:

• Pregnancy loss

• Growth restriction

• Craniofacial abnormalities

• Limb/skeletal abnormalities

• CNS abnormalities

Teratogens: Lithium

• Anti-Depressant

EBSTIEN ANOMALY

• Tricuspid valve displaced toward the apex of the right ventricle

Teratogens: Mycophenolate

• Immunosuppresant

Mycophenolate → EARS/FACE

Associated with a recognizable embryopathy involving:

• Microtia/ear abnormalities

• Facial anomalies

• Cleft lip/palate

• Cardiac abnormalities

Teratogens: Maternal Diabetes

Pregestational diabetes:

• poor glycemic control during early pregnancy (organogenesis)

• DIFFERENT from Gestational diabetes:

  • More Macrosomia and Neonatal metabolic complications

[ CLAUDAL REGRESSION ]

Clinical Features

CNS

• Neural Tube Defects

• ****HOLOPROENCEPHALY****

Heart

• CHD

Skeletal

• Skeletal Anomalies

Renal

• Renal Anomalies

Ultrasound Findings

• ****HOLOPROENCEPHALY****

Teratogens: Maternal PKU

• women with poorly controlled PKU during pregnancy

MATERNAL PKU SYNDROME

• MICROCEPHALY – ID – GROWTH – HEART

Clinical Features

CNS

• Microcephaly

• ID

• Growth Restriction

Heart

• CHD

Teratogens: Radiation

• DOSE + TIMING

  • Need High does

  • Routine Imaging NOT high enough dose

Clinical Features

• *****Pregnancy Loss/ Miscarriage*****

• Growth restriction

• Microcephaly

• Neurodevelopmental effects

• Increased cancer risk

Teratogens: Mercury

[ MERCURY → developing BRAIN → neurodevelopmental toxicity ]

MINAMATA DIEASE

Clinical Features

CNS

• Microcephaly

• Ataxia

• Seizure

• ID

• Sensory impairment

Teratogens: Selective Serotonin Reuptake Inhibitor (SSRIs)

• Anti Depressant

• *****Late Pregnancy Exposure*****

Poor neonatal adaptation syndrome

• Temporary Neonatal jitteriness

• Irritability

• Respiratory distress

Teratogens: TORCH Overview

T — Toxoplasmosis
O — Other
R — Rubella
C — Cytomegalovirus (CMV)
H — Herpes simplex virus (HSV)

"Other" can include syphilis, varicella, parvovirus B19, HIV, and Zika

Clinical features

Consider TORCH screening for

CNS

• Microcephaly

• Intracranial calcifications

• Seizures

• IUGR

Ears

• Hearing Loss

Eyes

• Cataracts

Teratogens: Toxoplasmosis

Exposure:

• undercooked/raw meat

• ****CAT FECES****

[Hydrocephalus + chorioretinitis + diffuse intracranial calcifications']

Clinical Features

CNS

• Hydrocephalus

• Intracranial calcifications

Eye

• Chorioretinitis

Teratogens: Cytomegalovirus (CMV)

• TORCH teratogen infection

• Most common congenital viral infection

  • 1/200 babies born with congenital CMV - 1/5 have symptoms

    • major cause of nongenetic sensorineural hearing loss

[ PERIVENTRICULAR CALCIFICATIONS + SENSORINEURAL HEARING LOSS ]

Clinical Features

CNS

• Microcephaly

• *****Periventricular Calcifications**** (Hallmark)

• Seizures

• IUGR

Ear

• ***** HEARING LOSSS***** (Hallmark)

  • Congenital OR Progressive

Ultrasound Findings

• ****ECHOGENIC BOWEL****

Teratogens: Rubella

• TORCH infection teratogen

[ CATARACTS + Patent ductus arteriosus + HEARING LOSS ]

Clinical Features

CNS

• Microcephaly

Eye

• ****Cataracts****

• “Salt + Pepper” Retinopathy

Ear

• ***Sensorineural Hearing loss***

Heart

• ****Patent Ductus Arteriosus***

• Pulmonary Artery Stenosis

Skin

• ****“Blueberry Muffin Rash”****

Teratogens: Herpes

• TORCH infection teratogen

• *****Acquired during delivery than transplacental****

  • NO ISSUES PRENATALY

Clinical Features

• Skin, Eye, Mouth Disease

• CNS Disease

  • Encephalitis

  • Seizures

• Disseminating disease

  • multiple organ damage

Teratogens: Syphilis

• TORCH infection teratogen

Clinical Features

• Hutchinson Triad

  • Hutchinson Teeth

  • Saber Shins

  • Saddle Nose

  • Snuffles

Teratogens: Varicella

• TORCH infection teratogen

[ SKIN SCARRING + LIMB HYPOPLASIA ]

Clinical Features

CNS

• Microcephaly

• Ventriculomegaly

Limbs

• Hypoplastic limbs

• Growth Restriction

Skin

• Scarring

Eye

• abnormalities

Teratogens: Parvovirus

• TORCH infection teratogen

• NON-STRUCTRUAL: affects RBC production leading to severe fetal anemia

Parvovirus B19 → fetal ANEMIA → nonimmune hydrops

Clinical Features

• Fetal Anemia

• Hydrops Fetalis

Ultrasound Findings

• Ascites (fluid buildup in abdomen)

• Skin Edema

• Pleural/Pericardial effusion

Teratogens: Zika

• TORCH teratogen infection

ZIKA → BRAIN destruction/development → severe microcephaly

Clinical Features

CNS

• ****SEVERE Microcephaly****

• Intracranial calcifications

• Neurodevelopment impairment

TORCH Review

TOXO
→ Hydrocephalus + chorioretinitis + DIFFUSE calcifications

CMV
→ Microcephaly + hearing loss + PERIVENTRICULAR calcifications

Those two are frequently confused, so I'd memorize them as opposites:

TOXO = BIG ventricles (hydrocephalus), diffuse calcifications

CMV = SMALL head (microcephaly), periventricular calcifications

RUBELLA
→ Cataracts + PDA + deafness

PARVOVIRUS B19
→ Anemia → hydrops

VARICELLA
→ Scars + small limbs

ZIKA
→ Severe microcephaly

HSV
→ Usually acquired during delivery → SEM / encephalitis / disseminated disease

Ultrasounds: Timeline

Gestational age	Ultrasound	Main purpose
~6–10 wk	Dating/viability	Location + viability + dating + number
11–13+6 wk	NT ultrasound	Aneuploidy/genetic/structural risk marker
18–22 wk	⭐ Detailed anatomy scan	Structural abnormalities + soft markers
18–22ish wk	Fetal echo when indicated	Detailed cardiac anatomy
3rd trimester	Growth ultrasound when indicated	Growth + fluid + placenta
Later pregnancy	BPP/NST when indicated	Fetal well-being

Ultrasound: First Trimester US

When: 6-10weeks

What:

• Get correct Gestational Dating (for correct serum screen interpretation)

  • crown-rump length

• Confirm intrauterine pregnancy

• Establish viability

• Determine gestational age

• Determine number of fetuses

Ultrasound: Nuchal Translucency Scan

When: 11–13+6 weeks

What: Measure the Nuchal translucency (amount of fluid behind the neck)

• Greater than 3.5mm

• 95th percentile of Crown Rump Length

Increased NT associated with

• T21, T18, T13

• Turner syndrome (Monosomy X)

• RASopathies (NOONAN SYNDROME)

• Congenital Heart Defects

ALSO:

• Hydrops Fetalis: accumulation in 2+ areas

  • Skin Edema

  • Pleural Effusion

  • Pericardial effusion

  • Abdomen fluid (Ascites)

• Cystic Hygroma: fluid accumulation in back of neck due to blockage of lymphatic system

  • ****HIGHLY associated with Noonan syndrome****

Ultrasound: 2nd Trimester Anatomy Scan

When: 18-22 weeks

What: Systemic evaluation of anatomy including

• CNS

  • Ventricles

  • Cerebellum/posterior fossa

  • Neural tube/spine

  • Intracranial anatomy

• Heart

  • Four-chamber view

  • Outflow tracts

  • Cardiac position/rhythm

• Face

  • Profile

  • Nose/lips

  • Cleft lip

• Abdomen

  • Stomach

  • Kidneys

  • Bladder

  • Abdominal wall

  • Umbilical cord insertion

• Skeleton

  • Long bones

  • Hands/feet

  • Spine

Ultrasound: Fetal Echocardiogram

• Specialized ultrasound of fetal heart

When: 18–22 weeks

Indications

• Suspected fetal cardiac abnormality

• Increased NT

• Certain maternal conditions/exposures

• Family history of CHD

• Certain genetic abnormalities

• Other high-risk situations

Ultrasound: Third Trimester

When: After 28 weeks

[ GROWTH + FLUID + PLACENTA + FETAL WELL-BEING ]

Ultrasound: Chorid Plexus Cyst

• Soft Marker

  • 2% of all pregnacies

• Trisomy 18

• Usually benign when isolated, especially with negative aneuploidy screening; much more concerning when accompanied by other T18 abnormalities.

Ultrasound: Duodenal Atresia

• Structural Malformation

• Trisomy 21

• One bubble = dilated stomach

• Second bubble = dilated proximal duodenum

• Often associated with polyhydramnios because of impaired fetal swallowing/GI passage

Ultrasound: Echogenic Bowel

• Soft Marker

  • 2% of all pregnancies

Conditions

• ****Trisomy 21***

• Cystic Fibrosis

• Congenital CMV

• Intra-amniotic bleeding

Ultrasound: Echogenic Intracardiac Focus (EIF)

• Soft Marker

  • 5% of all pregnancies, higher in Asian population

• Trisomy 21

  • Can occur with completely normal fetuses

Ultrasound: Holoproencehpaly

• Structural Malformation

Associated Conditions

• ***Trisomy 13***

• Smith-Lemli-Optiz

• SHH single gene mutations

• Maternal Diabetes

• Fetal Alcohol

Ultrasound: Pyelectasis

• Soft marker

  • A mild dilation of the fetal renal pelvis form urine accumulation

  • 2% of all pregnancies

• Trisomy 21

Ultrasound: Short Femur

• Soft marker

Associated conditions

• ****Trisomy 21****

• Skeletal Dysplasia

Ultrasound: Thick NT/ Cystic Hygroma

• Soft Marker

Associated Conditions

• Trisomy 21 (but not specific)

• Turner

• ***Noonan syndrome (ESPCIALLY w isolated cystic hygroma)***

• Trisomy 18

• Trisomy 13

• Congenital Heart Defects

Ultrasound: 2–3 Toe Syndactyly

• Structural Malformation

  • fusion/webbing of 2nd + 3rd toes

• Smith-Lemli-Optiz

Ultrasound: Claudal regression

• Structural Malformation

• Maternal Pregestational Diabetes

Ultrasound: Cloverleaf Skull

• Structural Malformation

Associated Conditions

• ****Thanatophic Dysplasia TYPE II**** (FGFR3)

• Pfeiffer Syndrome (FGFR2)

  • Apert + Crouzon to lesser extenet

Ultrasound: Heart and Arm Anomaly

• Structural malformation

• Holt-Oram Syndrome (TBX5)

Ultrasound: Molar-Tooth Sign

• Structural Malfromation

• Joubert sydnrome

Ultrasound: Occiptal Encephalocele + cystic kidney + polydactyl

• Structural malformation

• Meckel-Gruber Syndrome

Ultrasound: Radial Ray Anomlies (radius/thumb)

• Structural malformation

Associated conditions

• Holt-Oram syndrome

  • Thumb absent

• Fanconi Anemia

  • Thumb absent

• Thrombocytopenia Absent Radius (TAR) syndrome

  • ***THUMB PRESENT***

Ultrasound: Rhabdomyoma

• Structural abnormality

• Tuberos Sclerosis

Ultrasound: Telephone Receiver

• Structural Malformation

• Thanatophoric Dysplasia ***TYPE I***

Ultrasound: Interrupted Aortic Arch

• Structure malformation: Conotruncal

• DiGeorge Syndrome

Ultrasound: Truncus Arteriosus

• Structural malformation: Conotruncal

• DiGeorge

Ultrasound: Tertology of Fallot

• Structural malformation:

Associated conditions

• DiGeorge Syndrome

• Trisomy 21

• Alagille syndrome (JAG1/NOTCH2)

Ultrasound: Heterotaxy

• Structural malformation: developmental laterality disorder

Associated conditions

• Ciliopathies

  • Primary Ciliary Dyskinesia

  • Kartagener syndrome (Embryology Class - Triade)

  • ZIC3-related heterotaxy

Ultrasound: Epstein Anomaly

Lithium Exposure

Ultrasound: Pulmonic Stenosis

• Noonan syndrome

  • PTPN11 especially

• LEOPARD syndrome

Ultrasound: Atrial Septal Defect

• Trisomy 21

• ***Holt-Oram syndrome (TBX5)****

  • Secundum ASD

• Noonan Syndrome

Ultrasound: Ventricular Septal Defect

• Trisomy 21

• ***Trisomy 18***

• Trisomy 13

• Di Geroge syndrome

• Holt-Oram syndrome

Ultrasound: Coarctation of the Aorta

• Turner syndrome

• Kabuki Syndrome (KMT2D)

Ultrasound: Supravalvular Aortic Stenosis

• Williams Syndrome (7q11 deletion or ELN1)

Ultrasound: Arthrogryposis

• Multiple congenital joint contractures in 2+ areas of the body

  • Joints remain fixed and infelxible

• Beals Syndrome (FBN2)

Ultrasound: Dandy Walker Malformation

• Affect Cerebellum

• 50% have ID

Associated Conditions

• ***Trisomy 18***

• Trisomy 13

• Trisomy 21

• ***Walker-Warburg Syndrome*** (POMT1/POMT2) -Eye-Brain-Muscle ds

• Meckle-Gruber Syndrome

• Aicardi Sydnrome

Cleft Lip and patalte

• Prevalence 1/1000

Recurrence risk

• Unaffected Parents

  • 1 child affected: 3-5%

  • 2 childrne affected: 10-15%

• Affected Parents

  • 1 affected child: 10-15%

Ultrasound: Clubfeet/Rocker bottom feet

• Trisomy 18 (rocker bottom)

• Trisomy 13 (rocker bottom)

• Spina Bifida /Neural tube Defects

• Arthrogryposis

• Oligohydramnios/uterine constraint

Ultrasound: Congenital Diaphragmatic Hernia

• ***Trisomy 18*** and Trisomy 13

  • (10-20% of all cases)

• ***Pallister-Killian Syndrome***

• Fryns Syndrome

• Cornelia de Lange Syndrome

Ultrasound: Gastroschisis

• ISOLATED

  • Sporadic

  • Increased incidence among YOUNG MOTHERs

• ***** Maternal serum AFP: INCREASED *****

Ultrasound: Omphalocele

• Beckwith-Wiedemann Syndrome

• Trisomy 18

• Trisomy 13

Ultrasound: Lissencephaly

• Miller-Dieker

• Walker-Warburg

Ultrasound: Lower Urinary Tract Obstruction (LUTO)/ Bladder Outlet Obstruction (BO)

• Prune Belly Syndrome

• Trisomy (in 10%)

• Urethral atresia/stenosis

Ultrasound: Ventriculomegaly

• ***Trisomy 18***

• Trisomy 21

• Trisomy 13

• ***Congenital CMV***

• Toxoplasmosis

Congenital Anomaly: Pierre-Robin Sequence

Primary malformation: Micrognathia (small/recessed mandible)

→ Causes Tongue to be displaced back/upwards (Glossoptosis)

→ tongue causes:

• block of closure of palatal shelves: Cleft palate

• Block of Airway: Respiratory distress

Associated conditions

• ***Stickler syndrome**** (COL2A1)

  • Retinal detachment, hearing loss, arthritis

• Treacher Collins (TCOF1)

  • Conducive Hearing loss

• Di George Syndrome (22q Del)

  • hypocalcemia, immune deficiency, CHD

• Campomelic Dysplasia (SOX9)

  • Bowed long bones, 46,XY sex reversal

Congenital Anomalies: Potters Sequence

Primary Malformation: Renal Anomalies that cause absent/severe dysfunction or urinary obstruction

• ***Bilateral renal agenesis***

• LUTO

→ Fetal urine is not released, decreasing total amniotic fluid: Severe Oligohydramnios

→ Fetus becomes chronically compressed:

• Limb positioning abnormalities/contractures

• Hip abnormalities

• Characteristic compressed "Potter facies"

→ Lungs aren’t filled with fluid, affecting development: ***Pulmonary Hypoplasia***

Associated Conditions

• Bilateral renal agenesis

• Autosomal recessive polycystic kidney disease (PKHD1)

• LUTO / posterior urethral valves

• Meckel-Gruber Syndrome

Congenital Anomalies: Amniotic Band Sequence

Primary Malformation: Amnion ruptures in utero (before delivery)

→ Strands of amniotic tissue form fibrous bands that entangle and restrict fetal structures: Asymmetric, irregular abnormalities

Classic findings

• Constricting rings around limbs/digits

  • Amputation of fingers/toes/limbs

  • Syndactyl

  • Irregular craniofacial defects

[ Multiple bizarre, asymmetric abnormalities that don't follow a recognizable developmental pattern → think amniotic band sequence ]

************Usually Sporadic******************

Open Neural Tube Defects: Spina Bifida Occulta

Features

• Small gap in spine → BUT NOT ACTUALLY OPEN

  • ***NO INCREASED AFP***

• NO protruding sac (skin covering)

• Possible hair tuff

• No impairment

Associated conditions

• Isolated

• ***Folate Deficiency***

• ***Valproic acid exposure**

• Maternal pregestational diabetes

Open Neural Tube Defects: Meningocele

Features

• Protruding sac contains:

  • Meninges

  • Spinal Fluid

  • But NO NERVES/SPINAL CORD

• Spinal cord not damaged

• May or may not have skin covering

• Neurologic deficit less severe than Myelomeningocele

Associated Conditions

• Usually multifactorial

• Folate deficiency

• ****Valproic acid exposure****

• Maternal pregestational diabetes

Open Neural Tube Defects: Myelomeningocele

Features

• Protruding Sac contains

  • Spinal fluid

  • Meninges

  • Spinal chord + Nerves

  • No skin covering

• Spinal chord + Nerves damaged by amniotic fluid

  • Symptoms: loss of feeling/movement in legs/feet, incontinence

  • Impaired CSF Flow

• ****HIGHLY ASSOACTED WITH CHIARI II MALFOMRATION ****

Associated Conditions

• ***Chiari II Malformation***

• Hydrocephalus/Ventriculomegaly

• Valproic Acid Exposure

• Maternal pregestational diabetes

• Meckel-Gruber syndrome

Myelomeningocele → multifactorial NTD → folate/valproate/diabetes → Chiari II → hydrocephalus

Open Neural tube Defects: Chiari II Malformation

Features

• Small/Crowded posterior Fossa -

  • Cerebellum protrudes DOWN into top of the psinal colomun though spinal colum eny into skull (forum magnum)

    • ***BUT NOT OUTSIDE OF THE BODY****

  • Caused by altered intracranial pressure + development due to loss of CSF leakage

  • Why it is so highly associated with Myelomengioclele: CSF leaks out

• Major Consequences

  • Obstruction of CSF flow → Hydrocephalus/Ventriculomegaly

  • Brainstem compression: abnormal breathing, stridor, swallowing dysfunction

Ultrasound Clues

• Lemon Sign: Front of skull looks pinched

• Banana Sign: Bannanna shaped cerebellum