Screening of the fetus

First Trimester Screening (FTS)

The FTS must be performed between 11+ weeks to 13 weeks 6 days gestation, best around 12 weeks. This is performed via: 1. History 2....

Non-Invasive Prenatal Test (NIPT)

One needs to understand the different types of chromosomal abnormalities to decide which tests to do. 1. Large chromosomal abnormalities...

Fetuses with increased NT (nuchal translucency)

The majority of fetuses with increased nuchal translucency (NT) detected at the routine first trimester scan at 11-13 weeks gestation are...

Second Trimester Screening

Second Trimester Screening Scan or Fetal Anomaly Scan at 18-22 weeks This scan typically takes 30 minutes but may take longer if the baby...

Third Trimester Growth Scan (including 3D / 4D if the conditions are right)

This is usually done at 30 to 37 weeks. The following details are assessed at this scan: a) Measurements of head circumference,...

Amniocentesis and CVS (chorionic villus sampling)

Invasive diagnostic procedures like amniocentesis and chorionic villus sampling (CVS) are performed under ultrasound guidance to obtain...

Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR)

QF-PCR is a common test used in many laboratories for the quick identification of the common chromosomal aneuploidies like Trisomies...

Conventional karyotype

Conventional karyotype is a genetic test that examines the size, shape and number of chromosomes in a sample of cells. The turn around...

Chromosomal microarray (CMA) test

Chromosomal microarray (CMA) test allows the detection of clinically significant microdeletions or microduplications that are bigger than...

Whole exome sequencing (WES) [Trio]

Introduction DNA sequencing is the process of finding the order of the building blocks (i.e. nucleotides) of the genetic code of an...

Whole genome sequencing (WGS) [trio]

Introduction DNA sequencing is the process of finding the order of the building blocks (i.e. nucleotides) of the genetic code of an...

Single gene testing

Single gene testing may be performed on amniocentesis or CVS sample if a specific gene abnormality is suspected because of: 1. very...

Targeted gene panels

Targeted gene panels may be performed on amniocentesis or CVS sample if a specific abnormalities are suspected because of specific fetal...