Foetal Medicine

Down Syndrome is a chromosomal disorder also known as Trisomy 21. People with Down Syndrome have an extra copy or a portion of chromosome 21.

No, you did not cause your child to have Down syndrome. It is caused by a mistake during cell division in either egg or sperm.

Yes, people with Down Syndrome can live a normal life if they are treated for co-existing conditions.

Yes,tests are performed during pregnancy beginning in the first trimester.These tests include non-invasive and/or invasive aneuploidy screening.

Yes, a child with Down syndrome can be born to anyone, regardless of ethnicity or socio economic status.

The challenges and difficulties differ depending on the type of syndrome and the patient. It requires a collaborative effort from doctors, genetic counsellors, families, health workers, teachers, and the surrounding community.

The presence of similar features or problems in different family members, such as parents, siblings, and maternal uncles, consanguinity (marriages between blood relatives), and multisystemic involvement may indicate an underlying genetic disorder in the family.

The most important factor is that the patient has faith and trust in all of the above.

No, it is not contagious; it is simply an extra copy of the chromosomes.

No, there is no such vaccine or medication.

Due to a lack of awareness in the early 1900s, the life span of a Down syndrome patient was approximately 9 years, but now, due to improved health care and advances in medical sciences, people with Down syndrome have a normal life span.

Your chromosomes are made of DNA (deoxyribonucleic acid), which is passed down from generation to generation (from families to families). It can be found in every cell of your body.

These are small pieces of DNA that contain instructions for making proteins. A chromosome contains a large number of genes. Your genes serve as the blueprint for your body. Most genes are passed down in two copies, one from your mother and one from your

DNA is essential for our development, reproduction, and health. It provides your cells with the information they need to produce proteins that affect many different processes and functions in your body. DNA damage or mutations can sometimes contribute to disease development father.

It is a threadlike structure that transports genetic data in the form of genes. Humans have 46 chromosomes, which are organised into 23 pairs.

Autosomes are 22 pairs of chromosomes that are identical in males and females. Furthermore, females have two X chromosomes, whereas males have one X and one Y chromosome. The X and Y chromosomes are known as sex chromosomes.

If a condition is inherited, it is passed down from parents to their children. Children inherit two copies of each chromosome, one from their father and one from their mother. If one of the parents is a carrier, the child has a 50% chance of inheriting the altered copy.

Traits are classified into two types: dominant and recessive. A dominant trait can overpower and be expressed while concealing another (the "recessive" trait).

Genetic disorders are caused by changes in genetic material, such as chromosomes or genes.

 The presence of similar features or problems in different family members, such as parents, siblings, and maternal uncles, consanguinity (marriages between blood relatives), and multisystemic involvement may indicate an underlying genetic disorder in the family.

It is true that genetic disorders run in families, but only one affected person can exist in a family. This is due to a new mutation/variant that occurred in utero in your child.

 If there is a suspicion of a genetic disorder in the family, a clinical/medical geneticist and a genetic counsellor should be consulted.

The risk of marrying a close relative (consanguineous marriage) is higher than that of marrying non-relatives. Children of first cousins are twice as likely as children of unrelated individuals to be born with a birth defect. And the risk for children of second cousins is comparable to that of unrelated people. Consanguineous marriage may pass on two recessive defective alleles, one from the mother and one from the father, to their offspring, resulting in genetic variation and, ultimately, genetic disorders.

Itlooksatonepieceofgeneticmaterialforchangesthatcouldleadtoacondition.A genetic test can either confirm or rule out a suspected genetic condition.
The results of genetic tests also give families an accurate answer about the chances of future family members inheriting the condition and whether another member of the family is likely to develop symptoms.

Prenatal diagnosis requires confirmation of a genetic disorder in family members.

The term Prenatal means 'pre-before' and 'Natal-birth'. Diagnosis before the birth i.e the testing of the fetus during pregnancy to rule out certain birth defects, genetic disorders or any chromosomal abnormalities.

Both prenatal screening and diagnosis are two different types of testing performed during pregnancy starting from the first trimester.

The difference between two are following:

PRENATAL SCREENING

• To identify the increased risk factor during pregnancy.
• Non invasive (Blood -Serum Test)
• Do not give definite answer (may be false positive of false negative)
• Advised to all pregnant women
• Do not pose risk for miscarriage

PRENATAL DIAGNOSIS

• To detect the high risk pregnancy with confirmative answers.
• Invasive Procedure (CVS, Amniocentesis)
• Gives definite answer (Confirmed Positive or Confirmed Negative)
• Advised to High risk pregnant women
• Small risk of miscarriage

The screening test are categorized into 3 types

• Prenatal Ultrasounds
• Maternal Blood Serum
• Non-Invasive Prenatal Screening (NIPS)

NOTE: if NPS is reported positive, further diagnostic test are recommended.

There are following diagnostic test:

• Amniocentesis
• Cordocentesis
• Chorionic villus sampling(CVS)
• Biopsy from Fetal Tissue
• Coelocentesis                            

#Amniocentesis and CVS are the most common diagnostic tests performed. AMNIOCENTESIS:

 It is the diagnostic test offered to those high risk pregnant women whose fetus is screened positive for certain genetic abnormalities and /or to rule in or rule out genetic disorders present in family.It is performed during 15-18 weeks of gestation.

Purpose:
 Confirmatory Test for Genetic Disorders:

About 20 ml of Amniotic fluid is collected with the help of a long and thin needle which is inserted in the uterus and is monitored by Ultrasound.

Risks

Every coin has 2 sides, similarly Invasive Tests has its pros and cons.

Following are the risks associated with amniocentesis procedure ( Note: risk may vary depending on expertise of person performing it)

• Miscarriages ( 1 in 500)
• Leakage ofAmniotic Fluid
• Injury to the fetus
• Infection

CHORIONIC VILLUS SAMPLING(CVS)

It is the diagnostic test offered to those high risk pregnant women whose fetus is screened positive for certain genetic abnormalities and /or to rule in or rule out genetic disorders present in family. It can be performed during early pregnancy i.e I 1-14 weeks.

 Protocol:

Small sample of placental tissue is withdraw in two different ways:

• Transcervical - through the vagina
• Transabdominal - through the abdomen.

Risks:

Following are the risks associated with CVS procedure (Note: risk may vary depending on expertise of person performing it)

• 1 in 100 Miscarriages
• Dizziness
• Infection
• Rh Incompatibility
• Abdominal Cramps

Clinicians nowadays prescribe prenatal tests to all the expected mother's to rule out chromosomal abnormalities.  According to medical bodies (ACOG guidelines), prenatal screening should be offered to all the pregnant women.

If a diagnostic test comes to be positive for any genetic abnormality, then these results should be discussed with medical experts such as a medical geneticist and a genetic counselor for further decision making.

If USG findings are positive for down syndrome that doesn't mean that your baby is having down syndrome. You should further go for a screening test.

A combined result of USG and maternal blood serum, gives the highest and accurate detection rate as compared to only USG or Blood Serum tests.

If the combined reports or NIPS is also positive then you should go for Invasive tests.