Medical biotechnology -4

1.Pre natal diagnosis:

Prenatal diagnosis refers to the various medical tests and procedures performed during
pregnancy to detect any potential health issues or abnormalities in the developing fetus. These
tests aim to provide information about the health, development, and genetic makeup of the
unborn baby.

There are two main types of prenatal diagnosis:

1. **Invasive Prenatal Diagnostic Techniques:** These involve procedures that carry a slight risk to
the fetus, such as amniocentesis, chorionic villus sampling (CVS), cordocentesis, coelocentesis,
and fetal tissue biopsy. These tests directly analyze fetal cells, tissue, or genetic material to
diagnose chromosomal abnormalities, genetic disorders, or other health conditions

2. **Non-invasive Prenatal Testing (NIPT):** These tests, such as ultrasound, blood tests, and cell-
free DNA screening, are non-invasive and pose minimal risk to the fetus and mother. They can
provide information about the baby's growth, anatomy, and certain genetic conditions.

Invasive:
1. **Amniocentesis:** Typically performed between 15 to 20 weeks of pregnancy, amniocentesis
involves inserting a thin needle into the amniotic sac to extract a small amount of amniotic fluid.
The fluid contains fetal cells that can be examined for genetic abnormalities, such as
chromosomal disorders like Down syndrome.

2. **Chorionic Villus Sampling (CVS):** Conducted earlier in pregnancy, typically between 10 to 13

weeks, CVS involves obtaining a tiny sample of tissue from the placenta. This tissue contains cells
that have the same genetic makeup as the fetus, allowing for analysis of chromosomal
abnormalities and genetic conditions.

3. **Cordocentesis (PUBS - Percutaneous Umbilical Blood Sampling):** This technique involves

inserting a thin needle into the umbilical cord to withdraw a small amount of fetal blood.
Cordocentesis is performed later in pregnancy, usually after 18 weeks. It's used to directly assess
the baby's blood for various genetic disorders and blood-related conditions.

4. **Coelocentesis:**
- **Procedure:** Coelocentesis, also known as periumbilical blood sampling, involves the
aspiration of fetal blood from the coelomic cavity. It's a rare and technically challenging
procedure, involving insertion of a needle through the abdominal wall into the coelomic cavity
surrounding the fetus.

5. **Biopsy from Fetal Tissue:**

 - **Procedure:** This technique involves obtaining a small sample of fetal tissue for genetic
testing. The tissue can be obtained from various sources, such as skin, liver, or other organs,
through a surgical procedure.

Non invasive:
Non-invasive prenatal testing (NIPT) involves various methods that don't pose significant risks to
the fetus or mother. Here are explanations of some common non-invasive prenatal diagnostic
techniques:

1. **Ultrasonography (Ultrasound):**
- **Procedure:** Ultrasound uses high-frequency sound waves to create images of the fetus in
the womb. It's a standard prenatal screening tool and can assess the baby's development, check
for structural abnormalities, determine gestational age, and monitor the placenta and amniotic
fluid levels.
- **Purpose:** It helps identify potential issues such as fetal abnormalities, growth problems, or
multiple pregnancies.

2. **MRI (Magnetic Resonance Imaging):**

- **Procedure:** MRI uses a magnetic field and radio waves to generate detailed images of the
fetus and the mother's reproductive organs. It's not as commonly used as ultrasound in routine
prenatal care but might be recommended in specific cases where more detailed imaging is
necessary.
- **Purpose:** MRI can provide additional information about fetal development, structural
anomalies, or certain abnormalities that might not be as clearly visible with ultrasound alone.

3. **cfDNA (Cell-Free DNA) Testing (Non-invasive Prenatal Screening, NIPT):**

- **Procedure:** cfDNA testing analyzes a small sample of the mother's blood to detect cell-free
fetal DNA circulating in her bloodstream. This DNA comes from the placenta and can provide
information about the fetus's genetic makeup.
- **Purpose:** It's primarily used to screen for common chromosomal abnormalities like Down
syndrome (Trisomy 21), Trisomy 18, and Trisomy 13, as well as to determine the sex of the baby.
It's highly accurate but might not cover all genetic conditions.

4. **Triple Test (Multiple Marker Screening):**

- **Procedure:** This blood test measures the levels of three specific substances in the mother's
blood during pregnancy: alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), and
unconjugated estriol. It's usually performed between 15 to 20 weeks of pregnancy.
- **Purpose:** The triple test helps in assessing the risk of certain chromosomal abnormalities
and neural tube defects. It's a screening test, not a definitive diagnostic tool, so further testing
might be recommended based on the results.