Obstetric and fetal ultrasound abbreviations

Obstetric & Fetal Ultrasound Abbreviations

Obstetric & Fetal Ultrasound Abbreviations serve a variety of clinical and practical purposes in prenatal care, diagnosis, documentation, and communication. Here's how they are commonly used:

Uses of Abbreviations
1– Rapid Documentation
2– Standardization in Reporting
3– Efficient Communication Among Professionals
4– Diagnostic Interpretation
5– Risk Assessment & Monitoring
6– Educational & Training Use
7– Space-Saving in Charts & Forms
8– Alerts & Flags in Monitoring
1. Rapid Documentation
Abbreviations like BPD, HC, AC, and FL allow clinicians to quickly document measurements in fetal biometry charts or reports without writing full terms repeatedly.
2. Standardization in Reporting
Using standardized terms such as EFW, EDD, or AFI ensures consistency across:
  • Electronic medical records (EMRs)
  • Radiology and obstetric ultrasound reports
  • International guidelines and protocols
3. Efficient Communication Among Professionals
Abbreviations like IUGR, NTD, or TTTS provide shorthand for complex diagnoses or conditions, allowing obstetricians, sonographers, radiologists, and neonatologists to communicate clearly and concisely.
4. Diagnostic Interpretation
Many abbreviations reflect key diagnostic parameters:
  • PI, RI, S/D Ratio for Doppler studies
  • CPR (Cerebroplacental Ratio) for fetal oxygenation and wellbeing
  • CI (Cephalic Index) for skull shape assessment
5. Risk Assessment & Monitoring
Abbreviations like:
  • NT, CPC, EIF are used in first-trimester screening
  • HLHS, DWS, TOF are vital in anomaly scan documentation
  • SIUGR, AFI, OLI are essential in third-trimester fetal wellbeing checks
6. Educational & Training Use
They help teach and test fetal development topics and pathology in:
  • Sonography and radiology training programs
  • OB/GYN board exams
  • Clinical protocols and checklists
7. Space-Saving in Charts & Forms
Ultrasound worksheets, growth charts, and PACS reports often use abbreviations due to space constraints,
  • EDD by US: 08/22/25 (based on CRL)"
  • "EFW: 2400g (BPD, HC, AC, FL used)"
8. Alerts & Flags in Monitoring
Electronic systems can flag issues based on entries:
  • EFW <10th %tile + CPR <1.08 → Risk of fetal hypoxia
  • MVP <2 cm → Alert for Oligohydramnios
EARLY PREGNANCY / FIRST TRIMESTER
GS– Gestational Sac
YS– Yolk Sac
CRL– Crown-Rump Length
MSD– Mean Sac Diameter
FHR– Fetal Heart Rate
B-hCG– Beta Human Chorionic Gonadotropin
NT– Nuchal Translucency
NB or NBL– Nasal Bone (Length)
DV– Ductus Venosus (for early screening)
TR– Tricuspid Regurgitation (first trimester screening)
CF– Cord Insertion (Cord Factor)
TVS– Transvaginal Sonography
CL– Cervical Length
SA– Spontaneous Abortion
TA– Threatened Abortion
BO– Blighted Ovum
EP– Ectopic Pregnancy
FETAL BIOMETRY & GROWTH
BPD– Biparietal Diameter
HC– Head Circumference
AC– Abdominal Circumference
FL– Femur Length
HL– Humerus Length
TCD– Transcerebellar Diameter
OFD– Occipitofrontal Diameter
CI– Cephalic Index (BPD/OFD × 100)
EFW– Estimated Fetal Weight
SDR– Standard Deviation Range
EDD by US– Estimated Due Date by Ultrasound
CS– Composite Score (used in biometric averaging)
Ponderal Index– EFW / Length³ (fetal growth evaluation)
FETAL DOPPLER & CIRCULATION
UA PI– Umbilical Artery Pulsatility Index
MCA PI– Middle Cerebral Artery PI
CPR– Cerebroplacental Ratio (MCA PI / UA PI)
DV PI– Ductus Venosus PI
S/D– Systolic to Diastolic Ratio
RI– Resistive Index
TAMX– Time-Averaged Maximum Velocity
AFI– Amniotic Fluid Index
MVP– Maximum Vertical Pocket
OLI– Oligohydramnios
POLY– Polyhydramnios
FETAL ANOMALIES & ANATOMY SCAN
NTD– Neural Tube Defect
DWS– Dandy-Walker Syndrome
ACC– Agenesis of Corpus Callosum
VSD– Ventricular Septal Defect
AVSD– Atrioventricular Septal Defect
HLHS– Hypoplastic Left Heart Syndrome
CDH– Congenital Diaphragmatic Hernia
TOF– Tetralogy of Fallot
EUA– Exomphalos / Umbilical Hernia / Abdominal Wall Defects
DUV– Dilated Ureter and Vesicoureteral Reflux
PUV– Posterior Urethral Valves
ARPKD– Autosomal Recessive Polycystic Kidney Disease
MC– Multicystic Dysplastic Kidney
SB– Spina Bifida
CNS– Central Nervous System
CPC– Choroid Plexus Cyst
NBL– Nasal Bone Length
EIF– Echogenic Intracardiac Focus
EFB– Echogenic Fetal Bowel
LCC– Longitudinal Cranial-Caudal View
TC– Thoracic Circumference
ASD– Atrial Septal Defect
TWIN & MULTIPLE GESTATIONS
DCDA– Dichorionic Diamniotic
MCDA– Monochorionic Diamniotic
MCMA– Monochorionic Monoamniotic
TTTS– Twin-to-Twin Transfusion Syndrome
TAPS– Twin Anemia-Polycythemia Sequence
TRAP– Twin Reversed Arterial Perfusion
SIUGR– Selective Intrauterine Growth Restriction
ANI– Amniotic Fluid Imbalance
MOD– Mode of Delivery
MATERNAL CONDITIONS & UTERINE FINDINGS
BMI– Body Mass Index
PIH– Pregnancy Induced Hypertension
PE– Preeclampsia
GDM– Gestational Diabetes Mellitus
PROM– Premature Rupture of Membranes
PPROM– Preterm PROM
PL– Placenta Low-lying
PP– Placenta Previa
PA– Placental Abruption
PI– Placental Insertion
IUGR– Intrauterine Growth Restriction
IUFD– Intrauterine Fetal Demise
CS– Cesarean Section (also known as C/S)
VBAC– Vaginal Birth After Cesarean
Cx– Cervix
IC– Incompetent Cervix
CL– Cervical Length
ULTRASOUND MODES & TECHNIQUES
2D– Two-Dimensional Imaging
3D– Three-Dimensional
4D– Real-time 3D (4D = 3D + motion)
M-Mode– Motion Mode (for heart rate)
PW– Pulsed Wave Doppler
CW– Continuous Wave Doppler
CFM– Color Flow Mapping
B-mode– Brightness Mode
A-mode– Amplitude Mode
TAS– Transabdominal Sonography
TVS– Transvaginal Sonography

Nuchal Translucency Scan: Purpose, Procedure & Results

Chapter Buttons

Nuchal Translucency (NT) Screening

1. What is NT Screening?πŸ”—
2. How the NT screening worksπŸ”—
3. why NT screening is important?πŸ”—
4. Scanning technique and measurement mathodsπŸ”—
Role of Grayscale Imaging during NT Screening
1. Scanning technique-[Step-by-Step Scanning Technique]
  • [Step-1.]: Patient Preparation.
  • [Step-2.]: Transducer Placement.
  • [Step-3.]: Aligning the Fetus in a True Mid-Sagittal Plane.
  • [Step-4.]: Optimize the Image.
  • [Step-5.]: Differentiation of Structures.
2. NT measuring method
3. NB measuring method
4. Amniotic fluid volume measuring method
5. Anatomical Assessment of the Fetal Profile
6. Fronto-Maxillary Facial (FMF) Angle
7. Forehead-to-Nasal Tip Ratio
8. Grayscale-Based Fetal Malformations Detected During NT Screening
Role of doppler Imaging during NT Screening
1. Tricuspid Valve Regurgitation
2. Ductus Venosus (DV) Doppler
3. Fetal Heart Rate (FHR)
4. Uterine artery Doppler
5. Role of Other Fetal Doppler Parameters
6. Doppler-Based Fetal Anomalies During NT Screening
5. What If NT is High?
6. Low Amniotic Fluid (Oligohydramnios) in First-Trimester NT Screening
7. High Amniotic Fluid (Polyhydramnios) in First-Trimester NT Screening
8. Quick NT Screening Flow-chart
9. NT Screening Limitations
10. SCRS- Diagnostic clue πŸ”—
11. NT Screening Interpretation MCQ
12. NT Screening Interpretation Quiz
13. Case Study – NT Screening Interpretation
SCRS-

What is NT Screening?

Nuchal translucency (NT) screening is a prenatal test performed during the first trimester of pregnancy, usually between 11 and 14 weeks, to assess the risk of certain chromosomal abnormalities in a fetus, particularly Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), Trisomy 13 (Patau syndrome) or Turner syndrome (Monosomy X) .

How the NT screening works

    1. NT screening is most effective when combined with:
  • Maternal age.
  • Biochemical markers
  • Additional ultrasound markers (nasal bone, ductus venosus, tricuspid flow)
  • 2. Ultrasound: An ultrasound is used to measure the thickness of the fluid-filled space at the back of the baby's neck. This is done while the baby is still in the early stages of development.
    3. Blood Test: A blood test is often done at the same time to measure the levels of certain substances in the mother's blood (such as free beta-hCG and PAPP-A). These measurements, combined with the NT measurement, help calculate the risk of chromosomal conditions.
    4. Risk Assessment: NT screening does not diagnose chromosomal abnormalities but provides a risk assessment based on the fluid measurement, the blood test results, and the mother's age. A higher-than-normal NT measurement can indicate an increased risk, but it does not mean the baby has a condition.
    5. Follow-up Tests: If the NT screening shows a higher risk, it may lead to further diagnostic testing, such as amniocentesis or chorionic villus sampling (CVS), which can provide definitive results regarding genetic conditions.
  • The goal is to provide a risk estimate, not a diagnosis, and to help guide decisions for further testing like NIPT or invasive testing.
  • why NT screening is important?

    Nuchal Translucency (NT) screening is important because it is a non-invasive, early screening test used to assess the risk of chromosomal abnormalities and structural anomalies in the fetus during the first trimester of pregnancy (typically between 11 to 13+6 weeks of gestation)
    1. Early Detection of Chromosomal Abnormalities
    • Measures the fluid-filled space at the back of the fetal neck (NT).
    • Increased NT is associated with:
      • Trisomy 21 (Down syndrome)
      • Trisomy 18 (Edwards syndrome)
      • Trisomy 13 (Patau syndrome)
      • Turner syndrome (Monosomy X)
    2. Identifies Risk for Structural Abnormalities
    • Enlarged NT may also indicate:
      • Congenital heart defects
      • Diaphragmatic hernia
      • Body stalk anomaly
      • Other syndromic conditions (e.g., Noonan syndrome)
    3. Combined with Biochemical Markers
    • NT measurement is often combined with:
      • Serum markers (PAPP-A, free Ξ²-hCG)
      • Maternal age
    • This combination improves the detection rate (>90%) for Down syndrome with a low false-positive rate (~5%).
    4. Safe and Non-Invasive
    • NT scan uses standard ultrasound—no radiation or risk to the fetus.
    • Provides critical early information without invasive procedures.
    5. Guides Further Testing
    • Abnormal NT results may prompt:
      • Non-invasive prenatal testing (NIPT)
      • Fetal echocardiography
      • Chorionic villus sampling (CVS) or amniocentesis for genetic diagnosis
    Role of Grayscale Imaging during NT Screening

    Scanning and measurement mathods

    Scanning technique-
    Step-1. Patient Preparation
    • Ask the mother to have a partially filled bladder (optional).
    • Position her comfortably in the supine or slightly tilted position.
    Step-2. Transducer Placement
    • Use a transabdominal probe (3.5–5 MHz).
    • In early gestations or with unfavorable views, a transvaginal probe (5–9 MHz) may be used.
    Step-3. Aligning the Fetus in a True Mid-Sagittal Plane
    Introduction:-Importance of accurate nuchal translucency (NT) & CRL measurement, Role of mid-sagittal alignment in reducing errors and improving screening sensitivity.
    • Key anatomical landmarks:
    a). Nasal bone
    b). Tip of the nose
    c). Rectangular palate
    d). Diencephalon
    e). Fourth ventricle
    f). Nuchal membrane
    i). Sonographic Criteria for Mid-Sagittal Alignment
    • The fetal head and thorax must be in a neutral position (neither hyperextended nor flexed).
    • The echogenic tip of the nose should be visible.
    • The rectangular shape of the palate must be clearly seen.
    • The translucent diencephalon and fourth ventricle (intracranial translucency) should be visible.
    ii. Technique for Achieving Alignment-
    • Maternal Preparation: Empty bladder (if transvaginal), partially full bladder (if transabdominal).
    • Probe Orientation: Align the transducer parallel to the fetal body axis.
    • Adjusting Fetal Position: Use gentle abdominal pressure or ask the patient to change position.
    • Zoom & Focus: Enlarge the image so that the fetal head and upper thorax occupy at least 75% of the screen.
    iii. Common Errors and How to Avoid Them
    • Off-axis images: May mimic the midline but lack key structures (e.g., missing nasal bone).
    • Fetal movement: Wait for stillness or reattempt alignment.
    • Incorrect flexion/extension: Identify and correct before measuring NT.
    • iv. Visual Aids and Examples
      • Annotated ultrasound images showing:
      • a). Correct mid-sagittal plane
        b). Incorrect off-midline planes
      • Diagrams highlighting critical landmarks
      v. Clinical Implications of Incorrect Alignment
      • Risk of inaccurate NT measurement
      • False positives/negatives in screening for chromosomal abnormalities
      Step-4. Optimize the Image
      • Zoom in until the fetal head and upper thorax fill at least 75% of the screen.
      • Use grayscale only (do not use Doppler).
      • Adjust gain and focus to enhance bony structures like the frontal bone.
      Step-5. Differentiation of Structures
      In nuchal translucency (NT) screening, one of the most important steps is correctly identifying and distinguishing the NT space from adjacent anatomical structures. Grayscale ultrasound imaging provides the necessary contrast to make these distinctions clearly and accurately. Grayscale imaging helps differentiate the nuchal translucency from adjacent structures such as:
      • Amnion (the thin membrane surrounding the fetus),
      • Fetal skin,
      • Subcutaneous tissues,
      • Umbilical cord if nearby.
      Avoids misidentifying thickened amnion or skin folds as increased NT.

      Why Structural Differentiation Matters:

      Accurate NT measurement depends on visualizing only the fluid space behind the fetal neck.
      Misidentification can lead to false-positive or false-negative risk assessments for chromosomal abnormalities.
      Using grayscale imaging only for NT measurement:
    • No Doppler,
    • No color overlays,
    • No power Doppler.

    • CRL measuring mathod

      Grayscale ultrasound plays a critical role in accurately measuring the Crown-Rump Length (CRL) during nuchal translucency (NT) screening. CRL is the most reliable parameter for dating early pregnancy and for determining eligibility and reference ranges for NT measurement (which must be done between CRL 45–84 mm).


      CRL is a crucial measurement used to:
      • Confirm gestational age,
      • Establish the expected date of delivery (EDD),
      • Determine if the fetus is within the 11–13+6 weeks window required for NT (Nuchal Translucency) screening,

      Key Roles of Grayscale Imaging

      1. Optimal Visualization of Fetal Anatomy
      • CRL is the distance from the top of the fetal head (crown) to the bottom of the trunk (rump).
      • Grayscale imaging clearly displays:-
        • a). The outer borders of the head and rump,
        • b).Internal fetal structures (e.g., spine) for correct orientation.
      • Ensures that only the fetal length is measured, excluding limbs or yolk sac.
      2. Accurate Caliper Placement
      • Grayscale contrast allows: Clear identification of the outer edge of the crown and outer edge of the rump.
      • This minimizes error and improves reproducibility.
      3. Confirmation of Gestational Age Window for NT
      • NT screening is valid only when:- CRL is between 45 mm and 84 mm, roughly corresponding to 11–13+6 weeks.
      • Grayscale imaging ensures that the fetus is scanned in a neutral position (not flexed or extended), giving a true CRL.
      4. Obtain the Mid-Sagittal Plane
      • Align the fetus in a true mid-sagittal plane, showing:
        • Tip of the nose
        • Nasal bone
        • Palate
        • Maxilla
        • Mandible
        • Forehead
      • The fetus should be in a neutral position (not flexed or extended).
      • Key landmark: The forehead appears as a smooth echogenic curve above the nasal bridge.
      5. Only rayscale imaging for CRL and NT recommended:
      • No Doppler or color should be used.
      • Ensures standardization across centers.
      NT measuring mathod
      NT is the fluid-filled space at the back of the fetal neck. High-resolution grayscale ultrasound allows clear visualization of this thin anechoic (black) space. Correct caliper placement depends on clear grayscale contrast between:
      • The fetal skin line (outer border).
      • The amniotic fluid (background).
      • Proper magnification and mid-sagittal plane acquisition are easier with grayscale imaging.
      Normal range of NT
      Typically less than 3.0 mm.Increased NT (>3.0 mm): May indicate a higher risk of chromosomal abnormalities, congenital heart defects, or genetic syndromes. A measurement above the 95th percentile for gestational age is considered increased.
      How Nuchal Translucency (NT) is Measured

      Step-1: Preparation for the Scan

      No special preparation is needed, but a full bladder may help improve image clarity.
      The scan is typically abdominal, but in some cases, a transvaginal ultrasound may be used for better visualization.



      Step-2: Performing the Ultrasound

      The sonographer places an ultrasound probe on your abdomen (or inserts a transvaginal probe if necessary).

      The baby is positioned in a mid-sagittal view (side profile).
      The image is magnified to ensure accurate measurement.


Step-3: Measuring the Nuchal Translucency

The sonographer identifies the fluid-filled space at the back of the baby’s neck.
Using calipers, the maximum thickness of this translucent (fluid-filled) area is measured.
The measurement is taken three times, and the largest reading is recorded for accuracy.



Step-4: Interpreting the NT Measurement

Normal NT thickness: Typically less than 3.0 mm.
Increased NT thickness: Over 3.5 mm may indicate a higher risk of chromosomal abnormalities like Down syndrome (Trisomy 21), Trisomy 18, or congenital heart defects.


Next Step:

NT measurement is combined with maternal age, blood test results (PAPP-A, Ξ²-hCG), and other factors to estimate the risk of chromosomal abnormalities.
This combined screening helps determine if further diagnostic testing (e.g., NIPT, CVS, or amniocentesis) is recommended.
If the NT is increased, further testing (such as NIPT, CVS, or amniocentesis) may be recommended.


Nasal Bone (NB) Measuring Method During NT Screening
Nasal Bone (NB) Measuring Method During NT Screening
Nasal bone assessment is a key component of aneuploidy screening, especially for detecting trisomy 21 (Down syndrome). During NT screening (11–13+6 weeks, CRL 45–84 mm), the presence, absence, or hypoplasia of the nasal bone is evaluated using grayscale imaging in a specific fetal profile plane.
Normal range of NB
CRL (mm) Expected NB Length
(mean ± SD)
45–54 mm ~1.4 mm (range: 1.1–1.8 mm)
55–64 mm ~1.7 mm (range: 1.3–2.1 mm)
65–74 mm ~1.9 mm (range: 1.5–2.3 mm)
75–84 mm ~2.1 mm (range: 1.7–2.5 mm)
Nasal Bone (NB) Assessment Criteria
  • Plane:- True mid-sagittal view of the fetal profile (same as NT view)
  • Fetal:- Position Head in neutral position, no flexion or hyperextension
  • Zoom:- Fetal head and upper thorax should occupy at least 75% of the image
  • Magnification:- Maximize to clearly visualize nasal bridge and skin
  • Image Quality:- High-resolution grayscale with appropriate gain (to avoid under/overexposing bones)
Landmarks for NB
  • Skin line (top)
  • Nasal bone (middle, shorter and more echogenic)
  • Tip of the nose (hard palate or nasal tip) (bottom)
Amniotic fluid volume measuring mathod
Amniotic fluid volume (AFV) is not routinely measured quantitatively as part of the screening. However, qualitative assessment of amniotic fluid is still done, and significant abnormalities may be noted.
Points about AFV during NT Screening:
1. Amniotic Fluid Volume Evaluation:
  • Not measured using AFI (Amniotic Fluid Index) or MVP (Maximum Vertical Pocket) this early.
  • Subjective/qualitative assessment is typically performed:
    • Sonographer ensures adequate amniotic fluid surrounds the fetus.
    • Significant findings like oligohydramnios (too little fluid) or polyhydramnios (too much fluid) are reported if noted.
2. When is Quantitative AFV Measurement Done?
  • Usually starts around 20 weeks during the anomaly scan.
  • Measured using:
    • AFI in a four-quadrant technique (second and third trimesters).
    • MVP method, especially in twin pregnancies.
3. Clinical Significance:
  • Abnormal fluid volume in the first trimester is rare but, if present, may indicate:
    • Early rupture of membranes (very rare).
    • Fetal anomalies.
    • Chromosomal abnormalities.
4. 3D AFV measurement
1. 3D Volume Acquisition:
  • Use a 3D transducer to capture a full volume of the amniotic sac.
  • Usually performed in a transabdominal or transvaginal scan depending on fetal position.
2. VOCAL Method (Virtual Organ Computer-aided AnaLysis):
  • Most common method for 3D volume measurement.
  • Steps:
    • Freeze the volume image.
    • Outline the amniotic fluid manually or semi-automatically on rotating planes (every 15° or 30°).
    • The software reconstructs a 3D volume.
3. AFV Estimation:
  • The calculated fluid volume is displayed in milliliters (mL).
  • ome studies propose normal ranges by gestational week, but these are not yet standardized for clinical use.
4. Normal AFV Values
Gestational Age (weeks) Mean 3D AFV (mL)
11 weeks ~30–35 mL
12 weeks ~40–50 mL
13 weeks ~60–70 mL

Note: TIn rare cases of suspected abnormalities, a follow-up scan and further investigations are recommended to monitor evolving fluid dynamics.

Anatomical Assessment of the Fetal Profile During NT Screening
During Nuchal Translucency (NT) screening, assessing the fetal profile is a critical component of early first-trimester anatomical evaluation. It ensures not only accurate NT measurement but also aids in the early detection of facial abnormalities associated with chromosomal and syndromic conditions.

What is the Fetal Profile?

The fetal profile refers to the mid-sagittal view of the fetal head and face, showing the alignment and appearance of:
  • Forehead
  • Nasal bone
  • Nasal tip
  • Nasal tip
  • Upper and lower lips
  • Maxilla and mandible
  • Chin (mentum)
Diagnostic clue for Abnormalities
  • Flattened forehead or Vertical, or bulging forehead: Trisomy 21 or Early signs of syndromes
  • Ensure neutral fetal position: Prevent measurement and shape distortion.
  • Optimize grayscale settings: Clear visualization of frontal bone and contour.
Fronto-Maxillary Facial (FMF) Angle
  • Definition: Angle between the line along the upper surface of the maxilla and the line along the frontal bone.
  • Normal range: ~76–83° at 11–13+6 weeks
    Helps assess facial disproportions or micrognathia
    Increased FMF angle: Associated with Down syndrome (Trisomy 21)
    How to Measure:
    • Mid-sagittal view of the face
    • One line: along the upper aspect of the maxilla
    • Second line: tangential to the frontal bone
    • Measure the angle between these two lines
    Forehead-to-Nasal Tip Ratio
    Fronto-Maxillary Facial (FMF) Angle
    The Forehead-to-Nasal Tip Ratio is a relatively rarely used soft marker assessed during first-trimester nuchal translucency (NT) screening,
    It is a craniofacial ratio calculated on a mid-sagittal plane ultrasound image, using two linear measurements:
    • Forehead length: From the leading edge of the frontal bone to the nasion (root of the nose).
    • Nasal tip length: From the nasion to the nasal tip.
    • Forehead-to-Nasal Tip Ratio = Forehead Length / Nasal Tip Length
    Grayscale-Based Fetal Malformations Commonly Detected During NT Scan:
    Malformations
    1. Acrania
    2. Anencephaly
    3. Holoprosencephaly
    • Alobar holoprosencephaly
    • Semilobar holoprosencephaly
    • Lobar Holoprosencephaly
    4. Cephalocele
    • Meningocele
    • Encephalocele
    • Meningoencephalocystocele
    5. Facial clefts
    • Median cleft
    • Unilateral (Upper) cleft lip (CL/±P)
    • Unilateral (Lower) cleft lip (CL/±P)
    • Bilateral cleft lip (CL/±P)
    6. Absent nasal bone
    7. Cystic hygroma
    8. Spina bifida
    9. Ectopia cordis
    10. Omphalocele
    11. Gastroschisis
    12. Megacystis
    13. Clubfoot
    14. Polydactyly
    15. Anasarca (Skin edema)
    16. Pericardial effusions
    17. Pleural effusions
    18. Ascites
    1. Acrania

    Findings

    πŸ“„ Report Sample Line– Acrania (During First Trimester / NT Screening)
    Absence of calvarial bones with disorganized brain tissue consistent with acrania, noted on gray scale imaging. Findings suggest a lethal neural tube defect.

    Conclusion

    πŸ“‹ Features are consistent with acrania (A lethal neural tube defect).

    Recommendation:
    Early referral to a fetal medicine specialist is advised.
    Recommend detailed follow-up anomaly scan and genetic counseling.



    2. Anencephaly

    Findings

    πŸ“„ Report Sample Line– Anencephaly (During First Trimester / NT Screening)
    There is absence of the cranial vault with exposed brain tissue ("frog-eye" appearance). The cerebral hemispheres are not covered by bone, and the cranial contour above the orbits is not visualized. This is consistent with a severe neural tube defect.


    Fig-1

    Fig-2

    Conclusion

    πŸ“‹ Sonographic findings are consistent with Anencephaly (A lethal neural tube defect).

    Recommendation:
    Early referral to a fetal medicine specialist is advised
    Recommend detailed follow-up anomaly scan and genetic counseling or 3D/4D Snan.



    3-a.Type-1: Alobar holoprosencephaly

    Findings

    πŸ“„ Report Sample Line– Alobar holoprosencephaly (During First Trimester / NT Screening)
    Gray scale imaging of a fetal brain showing a monoventricular brain cavity with absence of midline falx, fused thalami, and distorted craniofacial structures, suggestive of alobar holoprosencephaly.

    Conclusion

    πŸ“‹ Sonographic features are highly suggestive of holoprosencephaly, most consistent with the alobar form, a severe and lethal forebrain malformation.

    Recommendation:
    Recommend urgent referral to fetal medicine specialist for detailed neurosonography and genetic counseling. Karyotyping or chromosomal microarray testing is advised to assess for associated anomalies such as trisomy 13.
    Note: Associated facial anomalies (e.g., hypotelorism, proboscis) may also be present.



    3-b.Type-2: Semilobar holoprosencephaly

    Findings

    Type-2: Semilobar holoprosencephaly
    πŸ“„ Report Sample Line– Semilobar holoprosencephaly (During First Trimester / NT Screening)
    Gray scale imaging ofa fetal brain showing a partial separation of the cerebral hemispheres posteriorly, with a single ventricular cavity anteriorly, partially formed falx cerebri, and incomplete division of the thalami, consistent with semilobar holoprosencephaly.

    Conclusion

    πŸ“‹ Sonographic features are highly suggestive of holoprosencephaly, most consistent with the semilobar a moderate form of forebrain malformation with significant neurodevelopmental implications.

    Recommendation:
    Recommend urgent referral to fetal medicine specialist for detailed neurosonography and genetic counseling. Karyotyping or chromosomal microarray testing is advised to assess for associated anomalies such as trisomy 13.
    Note: Subtle midline facial anomalies such as hypotelorism may also be noted.



    3-c.Type-3: Lobar Holoprosencephaly

    Findings

    Type-1: Lobar holoprosencephaly
    πŸ“„ Report Sample Line– Lobar Holoprosencephaly (During First Trimester / NT Screening)
    Gray scale imaging of a fetal brain showing near-complete separation of cerebral hemispheres, with subtle fusion of the frontal lobes, presence of an interhemispheric fissure and falx cerebri, and a mildly abnormal configuration of the frontal horns, suggestive of lobar holoprosencephaly.

    Conclusion

    πŸ“‹ Imaging findings are consistent with lobar holoprosencephaly, the mildest form of forebrain malformation, which may still be associated with neurodevelopmental delay and chromosomal anomalies.

    Recommendation:
    Recommend referral to a fetal medicine specialist for detailed neurosonography and genetic counseling. Fetal MRI and genetic testing (including karyotyping or chromosomal microarray) are advised to evaluate associated anomalies and assist in prognostic assessment. Note: Facial anomalies may be minimal or absent.



    4-a. Cephalocele/Meningocele

    Findings

    πŸ“„ Report Sample Line– Cephalocele/Meningocele (During First Trimester / NT Screening)
    Gray scale imaging of a fetal brain showing a midline extracranial cystic mass extending through a defect in the occipital skull region, consistent with a cephalocele. The intracranial structures appear disrupted at the site of the lesion.

    Conclusion

    πŸ“‹ Sonographic features are suggestive of a cephalocele/Meningocele a neural tube defect involving herniation of intracranial contents through a skull defect, most commonly occipital

    Recommendation:
    Recommend urgent referral to fetal medicine for detailed neurosonography and assessment for associated anomalies, including evaluation for Meckel–Gruber syndrome and chromosomal abnormalities. Karyotyping or chromosomal microarray and follow-up imaging including fetal MRI are advised for prognostic and counseling purposes.



    4-b. Cephalocele/Encephalocele

    Findings

    πŸ“„ Report Sample Line– Cephalocele/Encephalocele (During First Trimester / NT Screening)
    Gray scale imaging of a fetal brain showing a midline occipital bony defect with herniation of intracranial brain tissue into a well-defined extracranial mass, consistent with an encephalocele. The cranial vault appears abnormal posteriorly, and the intracranial anatomy is disrupted at the lesion site..

    Conclusion

    πŸ“‹ Sonographic features are consistent with an cephalocele/encephalocele a type of neural tube defect characterized by herniation of brain tissue through a skull defect.

    Recommendation:
    Follow-up with fetal MRI.



    4-c. Cephalocele/Meningo-encephalocele

    Findings

    πŸ“„ Report Sample Line– Cephalocele/Meningo-encephalocele (During First Trimester / NT Screening)
    Gray scale imaging of a fetal brain showing a posterior skull defect with a complex extracranial mass containing meninges, brain tissue, and an anechoic component suggestive of a dilated ventricular structure, consistent with a meningoencephalocystocele. There is discontinuity of the calvarium in the occipital region, and distortion of intracranial anatomy.

    Conclusion

    πŸ“‹ Features are consistent with a Meningo-encephalocele a severe form of cephalocele involving herniation of meninges, brain tissue, and part of the ventricular system through a skull defect.

    Recommendation:
    Consider second-trimester fetal MRI and multidisciplinary counseling regarding.



    5.1 Facial clefts-[Median cleft]

    Findings

    πŸ“„ Report Sample Line– Median cleft (During First Trimester / NT Screening)
    A median facial cleft is noted, characterized by abnormal discontinuity of the midline upper lip and/or premaxillary region on coronal facial view. Nasal bone visualization may be suboptimal.


    Conclusion

    πŸ“‹ Findings are suggestive of a median facial cleft anomaly which may be associated with underlying syndromic or chromosomal abnormalities.

    Recommendation:
    Recommend a targeted Level II anomaly scan, fetal echocardiography, and genetic counseling. Consider karyotyping and/or chromosomal microarray testing. 3D ultrasound and fetal MRI may aid in further anatomical assessment.



    5.2 Facial clefts-[Unilateral (Upper) cleft lip (CL/±P)]

    Findings

    πŸ“„ Report Sample Line– Unilateral (Upper) cleft lip (CL/±P) (During First Trimester / NT Screening)
    Shows a unilateral upper cleft lip noted on coronal facial view — defect visualized on the [left/right] side of the upper lip with discontinuity in the soft tissue line.


    Conclusion

    πŸ“‹ Findings suggest the presence of a unilateral cleft lip. Detailed evaluation of the maxilla and palate is limited at this gestational age

    Recommendation:
    Recommend follow-up with a targeted anomaly scan around 18–22 weeks for detailed assessment of the lip and palate. 3D/4D ultrasound and genetic counseling are advised.



    5.3 Facial clefts-[Unilateral (Lower) cleft lip (CL/±P)]

    Findings

    πŸ“„ Report Sample Line– Unilateral (Lower) cleft lip (CL/±P) (During First Trimester / NT Screening)
    shows a unilateral lower cleft lip identified on coronal facial view during NT screening. Defect noted on the [left/right] side of the lower lip, with possible involvement of the lower alveolar ridge.

    Conclusion

    πŸ“‹ Findings are suggestive of a unilateral lower cleft lip (CL)

    Recommendation:
    Detailed follow-up with mid-trimester targeted anomaly scan and 3D facial imaging is recommended.



    5.4 Facial clefts-[Bilateral cleft lip (CL/±P)

    Findings

    πŸ“„ Report Sample Line– Bilateral cleft lip (CL/±P) (During First Trimester / NT Screening)
    Bilateral discontinuity of the upper lip visualized on coronal facial views during first-trimester NT screening, suggestive of bilateral cleft lip.
    Note:-Palatal involvement (cleft lip with or without palate involvement – CL/±P) cannot be confidently assessed at this stage.

    Conclusion

    πŸ“‹ Sonographic features are suspicious for bilateral cleft lip with possible extension to the alveolus and/or palate. Sonographic features are suspicious for bilateral cleft lip, with possible extension to the alveolus and/or palate.

    Recommendation:
    Advise follow-up with a detailed second-trimester anomaly scan and 3D facial ultrasound to confirm the extent of the defect



    6. Absent nasal bone

    Findings

    πŸ“„ 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.

    Conclusion

    πŸ“‹ 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 Ξ²-hCG).



    7. Cystic hygroma

    Findings

    πŸ“„ Report Sample Line- Cystic hygroma (During First Trimester / NT Screening)
    Septated fluid-filled cystic structure noted at the posterior fetal neck region during first-trimester NT scan, consistent with cystic hygroma. Lesion appears multiloculated and extends bilaterally.

    Conclusion

    πŸ“‹ Sonographic features are indicative of a cystic hygroma.

    Recommendation:
    Recommend prompt referral for genetic counseling and offer diagnostic testing (chorionic villus sampling or amniocentesis). Detailed early fetal echocardiography and follow-up anomaly scan are advised.



    8. Spina bifida

    Findings

    πŸ“„ Report Sample Line- Spina bifida (During First Trimester / NT Screening)
    shows an open neural tube defect (spina bifida) noted in the lumbosacral region, with splaying of posterior ossification centers.

    Conclusion

    πŸ“‹ Findings suggest a spina bifida.

    Recommendation:
    Follow-up with detailed fetal anomaly scan, fetal echocardiography, and multidisciplinary evaluation is advised



    9. Ectopia cordis

    Findings

    πŸ“„ Report Sample Line- Ectopia cordis (During First Trimester / NT Screening)
    The fetal heart is visualized partially/completely outside the thoracic cavity on anterior chest wall, consistent with ectopia cordis. There is a midline thoracic wall defect with abnormal cardiac position and motion outside the thorax.

    Conclusion

    πŸ“‹ Sonographic findings are diagnostic of ectopia cordis.

    Recommendation:
    follow-up MRI



    10. Omphalocele

    Findings

    πŸ“„ Report Sample Line- Omphalocele (First Trimester / NT Screening)
    Midline anterior abdominal wall defect noted at the base of the umbilical cord insertion, containing herniated bowel and/or liver within a membranous sac consistent with omphalocele. Umbilical cord is seen inserting into the apex of the sac.

    Conclusion

    πŸ“‹ Findings are suggestive of Omphalocele.

    Recommendation:
    Further evaluation with detailed anomaly scan and fetal echocardiography.



    11. Gastroschisis

    Findings

    πŸ“„ Report Sample Line- Gastroschisis (During First Trimester / NT Screening)
    Paraumbilical right-sided abdominal wall defect identified, with free-floating bowel loops herniating directly into the amniotic cavity without a surrounding membrane. The umbilical cord inserts normally adjacent to the defect.

    Conclusion

    πŸ“‹ Sonographic features are diagnostic of Gastroschisi

    Recommendation:
    Follow-up with serial growth scans and assessment of bowel appearance.



    12. Megacystis.

    Findings

    πŸ“„ Report Sample Line- Megacystis (During First Trimester / NT Screening)
    Significantly enlarged fetal urinary bladder observed. Measuring ≥7 mm in longitudinal diameter.

    Conclusion

    πŸ“‹ Findings are consistent with Megacystis

    Recommendation:
    Follow-up with detailed anomaly scan.



    13. Clubfoot

    Findings

    πŸ“„ Report Sample Line- Clubfoot (During First Trimester / NT Screening)
    Abnormal positioning of the fetal foot noted with persistent inward rotation and plantar flexion of the foot toward the tibia, consistent with unilateral/bilateral clubfoot. Long-axis views confirm fixed abnormal alignment.

    Conclusion

    πŸ“‹ Sonographic findings are consistent with clubfoot (talipes equinovarus).

    Recommendation:
    Follow up fetal MRI.



    14. Polydactyly

    Findings

    πŸ“„ Report Sample Line- Polydactyly (During First Trimester / NT Screening)
    Shows extra digit(s) visualized on the fetal hand/foot (specify: preaxial/postaxial, unilateral/bilateral) during detailed limb evaluation. Sonographic findings are consistent with polydactyly.

    Conclusion

    πŸ“‹ Sonographic findings are consistent with Polydactyly

    Recommendation:
    Follow-up 4D scan.



    15. Anasarca

    Findings

    πŸ“„ Report Sample Line- Anasarca (During First Trimester / NT Screening)
    Diffuse subcutaneous soft tissue thickening with generalized skin edema (>5 mm) observed across the fetal body.

    Conclusion

    πŸ“‹ Sonographic features are indicative of fetal anasarca a manifestation of hydrops fetalis

    Recommendation:
    Detailed fetal echocardiography
    TORCH screening
    MCA Doppler for fetal anemia
    Karyotyping (amniocentesis)
    Nots:Possible etiologies include cardiac anomalies, chromosomal abnormalities, fetal anemia, infections (e.g., Parvovirus B19), or lymphatic dysplasia. Prognosis depends on the underlying cause and severity.



    16. Pericardial effusions

    Findings

    πŸ“„ Report Sample Line- Pericardial effusions (During First Trimester / NT Screening)
    Anechoic fluid collection noted in the pericardial space, surrounding the fetal heart, measuring approximately __ mm in thickness. Effusion is symmetric and persists throughout the cardiac cycle. No signs of cardiac tamponade observed at this stage.

    Conclusion

    πŸ“‹ Sonographic finding of fetal pericardial effusion.

    Recommendation:
    Follow-up ultrasound for effusion monitoring.



    17. Pleural effusions

    Findings

    πŸ“„ Report Sample Line- Pleural effusions (During First Trimester / NT Screening)
    Anechoic fluid collections noted within the fetal thoracic cavity, located between the lung and chest wall, consistent with unilateral/bilateral pleural effusion.

    Conclusion

    πŸ“‹ Sonographic findings are consistent with fetal pleural effusion.

    Recommendation:
    Screen for TORCH infections and fetal anemia (MCA Doppler).



    18. Ascites

    Findings

    πŸ“„ Report Sample Line- Ascites (During First Trimester / NT Screening)
    Anechoic free fluid visualized within the fetal peritoneal cavity, outlining bowel loops and liver contours, consistent with fetal ascites. No associated bowel wall thickening or echogenicity noted at this stage.

    Conclusion

    πŸ“‹ Sonographic features indicate fetal ascites.

    Recommendation:
    Screen for fetal infections (TORCH, Parvovirus B19), and assess fetal heart and urinary tract.
    Note:-Fetal early sign of hydrops fetalis or secondary to intra-abdominal pathology, infections, genitourinary obstruction, cardiac failure, or chromosomal abnormalities.



    00

    Findings

    πŸ“„ Report Sample 00 (First Trimester / NT Screening)
    00

    Conclusion

    πŸ“‹ 00

    Recommendation:
    00



    System/Area Possible Malformation(s) Grayscale Clues
    Cranial/Brain Acrania/Anencephaly, Holoprosencephaly, Cephalocele Absent cranial vault, single cerebral ventricle, extracranial mass
    Face Facial clefts, Absent nasal bone Discontinuity in facial contour, hypoplastic/absent echogenic nasal bone
    Neck Cystic hygroma Large septated fluid collection at the nuchal region
    Spine Spina bifida Irregular or open spinal contour, posterior defect
    Thorax/Heart Cardiac anomalies, Ectopia cordis Abnormal cardiac axis/position, heart outside thorax
    Abdomen Omphalocele, Gastroschisis Herniation at base of umbilical cord (membrane-covered or not)
    Urinary Tract Megacystis Bladder diameter ≥7 mm (longitudinal) in 11–14 weeks
    Limb/Extremities Limb reduction defects, Clubfoot, Polydactyly Absent, short, or abnormally angled limbs or digits
    Hydrops Non-immune hydrops Skin edema, pericardial/pleural effusions, ascites
    Role of Doppler Imaging during NT Screening
    Tricuspid Valve Regurgitation

    The Forehead-to-Nasal Tip Ratio is a relatively rarely used soft marker assessed during first-trimester nuchal translucency (NT) screening,
    It is a craniofacial ratio calculated on a mid-sagittal plane ultrasound image, using two linear measurements:

    When to Assess:

    TR assessment is performed during the 11–13 weeks + 6 days scan, especially in cases with increased NT or other risk indicators.

    Technique:
    • Obtain an apical four-chamber view of the fetal heart using color Doppler.
    • Ensure the fetus is still and the heart rate is between 120–160 bpm.
    • Use a small Doppler gate (<2 b="" mm="">) over the tricuspid valve.
    • TR is identified as a reverse flow jet into the right atrium during systole.
    Interpretation
    • Normal (No TR): No significant reverse jet seen during systole
    • Abnormal (TR Present): Reverse jet lasting ≥ half of systole with velocity ≥ 60 cm/s
    Clinical Significance:
    • Presence of TR is associated with:
      • Trisomy 21
      • Trisomy 18
      • Congenital heart defects
    • Used in conjunction with NT, nasal bone assessment, and biochemical markers to refine risk calculation.

Note: TR alone is not diagnostic. It is a supplementary marker to be interpreted with other first-trimester screening results.

Ductus Venosus (DV) Doppler

Below is a table of Doppler parameters used in Ductus Venosus assessment during 11–13+6 weeks gestation:

Parameter Measured Value Normal Range / Interpretation
Ductus Venosus PI 1.2 < 95th percentile (~1.0–1.5 at 11–13w)
Ductus Venosus RI 0.6 0.5 – 0.8
Ductus Venosus PSV 35 cm/s 30 to 60 cm/s
Ductus Venosus A-wave Positive Forward flow (Normal) / Reversed or Absent (Abnormal)
Fetal Heart Rate (FHR)
The Role of Fetal Heart Rate (FHR) in NT Screening:Although NT screening primarily focuses on the measurement of the translucency layer, Fetal Heart Rate (FHR) is also recorded as a routine part of the ultrasound assessment. Here’s why FHR is important in this context-
1. Indicator of Fetal Well-Being:
  • 1. Normal FHR Values: Typically, the normal range in the first trimester is between 120–160 beats per minute. A normal heart rate suggests proper cardiac function and overall fetal health.
  • Abnormal FHR: Deviations such as tachycardia (elevated FHR) or bradycardia (lower than normal FHR) can be indicators of potential fetal distress, congenital heart issues, or other underlying abnormalities.
2. Indicator of Fetal Well-Being:
  • Confirmation of Fetal Viability: Recording the fetal heart rate confirms that the fetus is alive and supports the accurate measurement of NT.
  • Guidance for Image Acquisition: A clear, consistent heart rate helps sonographers optimize the image quality and ensure that the measurements (including NT thickness) are taken when the fetus is in an optimal position.
3. Indicator of Fetal Well-Being:

While NT measurement is the main focus for chromosomal risk estimation, the inclusion of FHR provides additional physiological data. If there’s an abnormal heart rate along with an increased NT measurement, it may raise the suspicion for certain conditions (including cardiac anomalies) and prompt further investigation.

4. Indicator of Fetal Well-Being:

Research has evaluated the correlation between abnormal FHR parameters and increased NT thickness. Although FHR is not directly incorporated into the NT risk calculation algorithms, variations in FHR might reinforce the clinical decision-making process when NT measurements are on the borderline.

5. Measurement and Methodology

FHR is most commonly measured using ultrasound modalities:

  • Doppler Ultrasound:Utilizes the Doppler effect to detect the movement of blood in the fetal heart, providing an immediate reading of the FHR.
  • M-Mode Ultrasound:Offers a graphical representation of the heart motion over time, which helps in verifying the heart rate and rhythm.
  • The simultaneous recording of FHR and NT allows for a comprehensive assessment during the first-trimester scan. Proper ultrasound technique ensures the fetus is imaged in a neutral position without excessive movement, which is crucial for accurate NT measurement and reliable FHR determination.
Role of Uterine Artery Doppler in NT Screening

Uterine artery Doppler assesses blood flow resistance in the uterine arteries, which supply the placenta. Abnormal flow patterns in the first trimester (11–14 weeks) can indicate impaired placentation, which may lead to complications like.

  • Preeclampsia.
  • Fetal Growth Restriction (FGR).
  • Placental insufficiency.

Uterine Artery Doppler Not Routine in Low-Risk Cases:
In low-risk, asymptomatic pregnancies, uterine artery Doppler is not required during NT screening. The guideline that uterine artery Doppler is not required in low-risk, asymptomatic pregnancies during NT screening is widely accepted in international practice, including in regions like:

  • United Kingdom – per NICE and Fetal Medicine Foundation (FMF) guidelines.
  • United States – per ACOG (American College of Obstetricians and Gynecologists).
  • Canada –per SOGC (Society of Obstetricians and Gynaecologists of Canada).
  • Europe – following ISUOG (International Society of Ultrasound in Obstetrics and Gynecology).
  • >Australia/New Zealand – per RANZCOG guidelines.

  • In high risk pregnancies
    • History of preeclampsia or FGR
    • Maternal conditions like hypertension, autoimmune disorders
    • Abnormal serum markers (e.g., low PAPP-A)
    • As part of combined screening models (e.g., Fetal Medicine Foundation risk algorithm)

    Role ofothers Doppler parameters

    In first-trimester screening, additional Doppler parameters support the evaluation of fetal cardiac function and placental health. Below is a summary of key Doppler indices and their relevance.

    Parameter Role / Relevance
    Ductus Venosus (DV) Abnormal flow (reversed or absent A-wave) may indicate chromosomal anomalies, especially Trisomy 21, and fetal cardiac dysfunction.
    Tricuspid Regurgitation (TR) Presence of TR during systole is linked with chromosomal defects (especially T21) and congenital heart disease (CHD).
    Uterine Artery PI Elevated mean PI may indicate impaired placental perfusion, increased risk of preeclampsia and FGR (fetal growth restriction).
    Umbilical Artery PI Less informative in the first trimester, but abnormal values could suggest early placental resistance or vascular pathology.
    Middle Cerebral Artery (MCA) PI Usually reserved for second/third trimester, but early deviation may reflect cardiac output imbalance.
    Low PI (<5th br="" brain-sparing="" centile="" effect="" in="" iugr.=""> Normal range 1.3–2.0 (decreases with GA)
    High PSV >1.5 multiples of the median (MoM) may indicate fetal anemia (e.g., Rh isoimmunization).
    Normal MCA-PSV by Gestational Age
    Gestational Age (weeks) Normal MCA-PSV (cm/s)
    18 weeks ~24–30 cm/s
    20 weeks ~26–33 cm/s
    24 weeks ~30–40 cm/s
    28 weeks ~35–45 cm/s
    32 weeks ~40–50 cm/s
    36 weeks ~45–55 cm/s
    >37 weeks ~50–60 cm/s
    Cerebroplacental Ratio (CPR) Rarely used in first trimester; more valuable in third trimester to evaluate fetal oxygenation and reserve.

    CPR (Cerebroplacental Ratio)

    Aspect Details
    Definition CPR = MCA-PI / Umbilical Artery PI
    Best Use Timing Third Trimester (after ~28–30 weeks)
    Purpose Assesses fetal adaptation to hypoxia, predicts IUGR or late-onset FGR
    Use in NT Scan (11–13w6d) Not clinically meaningful — vascular resistance patterns haven’t matured yet
    Guideline Support Not recommended by FMF or standard NT protocols for 1st trimester

    What If NT is High?

    If the Nuchal Translucency (NT) measurement is higher than normal (typically >3.5 mm), it does not mean the baby definitely has a problem, but it may indicate an increased risk for certain conditions.

    Possible Implications of High NT

    1. Chromosomal Abnormalities
    • Down syndrome (Trisomy 21)Edwards syndrome (Trisomy 18)
    • Edwards syndrome (Trisomy 18)
    • Patau syndrome (Trisomy 13)
    • Turner syndrome (Monosomy X)
    2. Structural Anomalies:
  • Congenital heart defects (most common)
  • Diaphragmatic hernia
  • Skeletal dysplasias
  • 3. Genetic Syndromes:
    • Noonan syndrome
    • Other single-gene disorders
    4. Poor Pregnancy Outcome (in some cases):
    • Miscarriage
    • Fetal death
    • Intrauterine growth restriction (IUGR)

    Steps After High NT

    1. Detailed Ultrasound (including fetal anatomy and heart evaluation)
    2. First-Trimester Combined Screening (NT + PAPP-A + free Ξ²-hCG)
    3. Non-invasive Prenatal Testing (NIPT) – analyzes fetal DNA in maternal blood
    4. Diagnostic Testing (if indicated)

    • Chorionic Villus Sampling (CVS) at 11–13 weeks
    • Amniocentesis after 15 weeks
    5. Fetal Echocardiography – usually done between 18–22 weeks

    Low Amniotic Fluid (Oligohydramnios) in NT Screening

    Although Oligohydramnios is more commonly evaluated in the second and third trimesters, a during the first trimester (11–13 weeks) may signal early complications.

    Sonographic Clues:

    • Fetus appears closely apposed to uterine wall.
    • Inability to visualize adequate fluid around fetus.
    • Compressed amniotic sac or oligoamnios-like pattern.

    🧾 Possible Causes:

    • Early rupture of membranes (PROM).
    • Severe fetal renal anomalies (e.g., bilateral renal agenesis – rare this early).
    • Placental insufficiency or poor perfusion.
    • Chromosomal abnormalities (in association with other markers).
    • Amniotic band syndrome.

    Management / Follow-Up:

    • Repeat scan within 1–2 weeks to assess fluid changes.
    • Check for fetal heartbeat and anatomy.
    • Evaluate for signs of membrane rupture.
    • Consider referral for early fetal medicine consultation.
    Note: Isolated low AFV in the first trimester may normalize with fetal urine production by 14–16 weeks. Persistent oligohydramnios may indicate poor prognosis.

    High Amniotic Fluid (Polyhydramnios) in NT Screening

    While Polyhydramnios is rarely diagnosed in the first trimester, noticeably increased amniotic fluid volume between 11–13 weeks may suggest underlying fetal or placental conditions. Early signs are generally picked up in 3D ultrasound research or in cases with associated anomalies.

    Sonographic Indicators:

    • Excessive separation between fetus and uterine wall.
    • Amniotic sac appears overly distended.
    • Fetus floating freely in excessive fluid space.

    🧾 Possible Causes:

    • Fetal gastrointestinal tract anomalies (e.g., esophageal atresia).
    • Early neural tube or brain malformations.
    • Chromosomal abnormalities (e.g., Trisomy 18 or 21).
    • Maternal diabetes (pre-existing or undiagnosed).
    • Fetal anemia or cardiac failure (hydrops fetalis).

    Management / Follow-Up:

    • Repeat scan after 1–2 weeks to monitor AFV trends.
    • Targeted early anomaly scan and NT screening.
    • First-trimester combined screening (NT, NB, DV, tricuspid flow, PAPP-A, Ξ²-hCG).
    • Consider referral to fetal medicine unit for high-risk findings.
    Note: Mild fluid increase may resolve as pregnancy progresses. Persistent or markedly high fluid in early gestation warrants close monitoring.

    Quick NT Screening Flowchart-πŸ“‹

    Quick NT Screening Flowchart
    Start ➔ First Trimester USG (11–13+6 weeks)
    Confirm:
    - Crown-Rump Length (CRL) between 45–84 mm
    - Fetal viability confirmed
    Measure:
    - Nuchal Translucency (NT)
    - Use mid-sagittal view
    - Fetal neck in neutral position
    Evaluate NT Result:
    ➔ NT < 95th percentile ➔ Routine follow-up
    ➔ NT ≥ 95th percentile (or ≥ 3.5 mm) ➔ HIGH RISK: NIPT / Invasive Testing / Detailed Scan / Echo
    Combine with:
    - Maternal Age
    - Serum Markers (free Ξ²-hCG + PAPP-A)
    Risk Assessment:
    ➔ Low Risk ➔ Reassure, Routine Care
    ➔ High Risk ➔ Genetic Counseling + Diagnostic Testing

    Visual Summary

    Step Action
    Step-1 Confirm CRL + Viability
    Step-2 Measure NT Accurately
    Step-3 Assess NT Thickness
    Step-4 Combine with Maternal Serum Markers
    Step-5 Calculate Risk (High or Low)
    Step-6 Advise NIPT or Invasive Testing if High Risk
    Quick Pearls:
    - NT > 3.5mm needs further evaluation.
    - Cystic hygroma = much higher risk.
    - Normal NT reduces, but doesn't eliminate all risks.
    - Combine with Double Marker test for best accuracy!

    NT Screening Limitations

    • Not 100% accurate: NT screening cannot provide a definitive diagnosis.
    • Reliability in twins: Less reliable in multiple pregnancies.
    • Influence of maternal factors: Obesity, incorrect gestational dating, etc.
    • Vanishing Twin Scenario: Can affect NT measurement and results.

    SCRS-Diagnostic clue

    SCRS Panel Diagnostic Clue-

    Dagnostic Clue-🏠

    Findings

    Conclusion

    Case Study – NT Screening Interpretation

    00000
    SCRS-
    R. K. Mourj Radio-imaging technologist

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