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Fetal Chromosomal Abnormality

Home For USG For Invasive Procedures Fetal Chromosomal Abnormality

Fetal Medicine

First Trimester Screening

( 10 to 14 Weeks ) - Double Marker Test 11 to 14 Weeks

A screening test identifies people at risk for a disorder in unselected population.

Why Screen for Down's?
  • Commonest aneuploidy
  • Morbidity High
  • 0.6-4.1 per 1000 between age
  • 70% occurs in women < 35 years
Fetal Medicine

Second Trimester Screening

( 15 TO 21 Weeks ) - Quadruple Marker Test

Second trimester screening is performed between 15 and 21 weeks of pregnancy. It involves a simple blood test called the Quadruple Marker Test, which helps to evaluate your risk of having a baby with certain chromosomal conditions and neural tube defects. It gives crucial information for the further management of the pregnancy.

Screening Parameters & Details

Incidence of Aneuploidy
Chromosomal Abnormality Incidence Rate
Trisomy 211 in 800
Trisomy 181 in 10000
Trisomy 13> 1 in 10000
Which is a Good Screening Test?

Those tests that give a Detection Rate (DR) of 75% and above, and a False Positive Rate (FPR) of 5%.

Screening Test Efficiency
Screening Method Detection of T21 (FPR 5%)
Double Test30%
Triple Test60-65%
Quadruple Test65-70%
1st Trimester NT70-75%
1st Trimester PAPP-A, Free B HCG60-65%
NT, PAPP-A, Free beta HCG80-85%
Integrated85-90%

NT Scan Screening Pathway

Decision tree for NT Scan findings and maternal risk assessment

NT Scan Screening Pathway Flowchart

Detailed Types of Screening

1. Combined Screening

USG + Biochemistry

2. Sequential Screening

  • Risk assessment in two stages.
  • All have combined screening & give results.
  • Only screen negative group separated & offer a quadruple screening.
  • First trimester risk used when calculating final risk.
11 - 13+6 Weeks: PAPP-A + B-HCG
15 - 19 Weeks: AFP + B-HCG + uE3 + inhibinA

3. Contingent Screening

All have combined screening, then 3 options:

  • High Risk (1 in 50): Invasive Diagnosis (CVS)
  • Intermediate Risk (1 in 50-1000): Offer Quadruple screening
  • Low Risk (1 in 1000): No further test

4. Integrated Screening (Best Model)

  • Screening happens in two stages.
  • Single risk assessment after 15 weeks.
  • After 1st Trimester screening, no result is given to patient; asked to come again for 2nd Trimester screening.
Detection Rate: 96%  |  False Positive Rate: 3%

Biochemical Screening in Twins

ONLY 1st TRIMESTER BIOCHEMICAL SCREENING, NO 2nd TRIMESTER SCREENING

  • A. Monochorionic Twins:
    Identical Risk for each fetus.
  • B. Dichorionic Twins:
    Separate risk for each fetus.
  • C. For triplets and higher multiples:
    Risk based on USG markers alone.
  • D. Vanishing Twin:
    No Fetal pole - Singleton.
Our Expertise

We Also Offer

The Best Choice in Navi Mumbai for Advanced & Accurate Scans

3D / 4D Scan

Advanced imaging for detailed visualization of fetal development.

NT Scan

Crucial early screening to assess the risk of chromosomal abnormalities.

Fetal Echo

Detailed ultrasound of the fetal heart to detect congenital defects.

Color Doppler

Evaluates blood flow to ensure adequate oxygen and nutrient supply.

Amniocentesis

Advanced diagnostic procedure to detect genetic abnormalities.

Fetal Reduction

Safe and specialized medical procedure for multi-fetal pregnancies.

Chorionic Villi Biopsy

Early prenatal test to detect chromosomal problems in the fetus.

Follicular Study

Serial ultrasound tracking of ovarian follicles to identify ovulation.

Discover Answers

FAQ & Answers

Pregnancy can be seen on a scan from the 6th weeks (halfway through your first trimester), but doctors recommend these early scans to be done between 7th to 12th weeks to ensure that your baby is normally growing inside you.
First trimester ultrasound examination is done to evaluate the presence, size and location of the pregnancy, determine the number of fetuses, and estimate how long you've been pregnant (gestational age)
Having multiple ultrasound examinations during pregnancy is unlikely to cause any lasting harm to the developing fetus, according to a new study that confirms the long-term safety of the commonly used procedure.
A review of over 50 medical studies shows that ultrasounds do not pose any danger to moms or fetuses. They do not cause birth defects, childhood developmental or intellectual problems, or cancer.

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