Karyotyping - Fetal Blood

Karyotyping - Fetal Blood

The Karyotyping - Fetal Blood test is a laboratory procedure used to examine the chromosomal structure of fetal blood cells. It involves a thorough analysis of the number and visual appearance of the chromosomes in a sample of cells.

This test is commonly used to detect chromosomal disorders in a fetus. It can help identify genetic disorders such as Down syndrome, Edwards syndrome, or Patau syndrome. These disorders occur when there are abnormalities in the number or structure of chromosomes. It is usually performed when other screening tests indicate a potential problem, or if there's a family history of genetic disorders.

  • Test NameKaryotyping - Fetal Blood
  • Sample TypeBlood
  • Preparations RequiredNo specific preparations are needed for this test. The procedure will be conducted by a medical professional and all necessary precautions will be taken to ensure the safety of both the mother and the fetus.
  • Report Time12 days

What is the Karyotyping - Fetal Blood test?

The Karyotyping - Fetal Blood test is a diagnostic procedure that analyses the number and structure of chromosomes in fetal blood cells. It is used to detect chromosomal abnormalities that can lead to genetic disorders.

Why is this test done?

This test is performed to detect any chromosomal abnormalities in a fetus. It is often recommended when other screening tests suggest a potential problem or if there's a known family history of genetic disorders.

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Frequently Asked Questions

A sample of fetal blood is obtained through a procedure called cordocentesis, where a needle is inserted through the mother's abdomen into the umbilical cord to draw blood. The procedure is guided by ultrasound and is performed by a trained medical professional.

As with any invasive procedure, there are some risks associated with cordocentesis, including infection, bleeding, and miscarriage. The benefits and risks of the procedure should be discussed thoroughly with your healthcare provider.

A normal result means that the number and structure of the chromosomes in the fetal blood cells appear typical. An abnormal result could indicate a chromosomal disorder such as Down syndrome, Edwards syndrome, or Patau syndrome.

If an abnormality is detected, your healthcare provider will discuss the results with you and suggest further testing or consultations with a genetic counselor to understand the implications of the results.

The turnaround time for this test is typically 5-7 days, but it can vary depending on the lab.

The results of the test can provide valuable information about the health of the fetus and can guide decisions about further testing and management of the pregnancy. However, any decisions about the pregnancy should be made in consultation with your healthcare provider.

You may experience some discomfort during the cordocentesis procedure, similar to a needle prick. Some women also report feeling a bit of pressure. Your healthcare provider may use a local anesthetic to numb the area.

This test is not typically performed on all pregnant women. It is usually recommended when other prenatal tests indicate a potential problem, or if there's a family history of genetic disorders.

No, this test can only detect disorders that are associated with abnormalities in the number or structure of chromosomes. It cannot detect single-gene disorders or complex genetic conditions.

Karyotyping is considered a highly accurate method for detecting chromosomal abnormalities. However, no test is 100% accurate, and there can be false positives or false negatives.

The results of the test are interpreted by a medical geneticist or a specialized laboratory scientist.

While there is a small risk of complications such as infection or miscarriage, the test is generally considered safe when performed by a skilled healthcare professional.

There are no dietary restrictions before this test. However, you should follow any specific instructions given by your healthcare provider.

Yes, typically, partners are allowed to be present during the test. However, policies may vary by hospital or clinic, so it's advisable to confirm this beforehand.

Potential factors affecting the test results could be maternal contamination, poor sample quality, or laboratory error. However, these instances are infrequent due to the meticulous process of sample collection and analysis.

The Karyotyping - Fetal Blood test is highly reliable in detecting Down syndrome, as this condition involves a distinctive chromosomal abnormality – an extra copy of chromosome 21.

If the test result is abnormal, you should consult with a genetic counselor and/or a perinatologist, a doctor specialized in high-risk pregnancies. They can provide guidance and discuss potential steps based on the results.

Options can vary depending on the type of chromosomal abnormality detected, the stage of pregnancy, and personal considerations. Options may include further diagnostic testing, consultations with genetic counselors, or discussions about potential outcomes and interventions.

The Karyotyping - Fetal Blood test, while not routinely administered, offers a way to glean potentially critical information about a fetus's genetic health. By understanding the procedure, its purposes, and implications, you can make well-informed decisions about the course of your pregnancy. Always remember that any queries, concerns, or decisions should be discussed with your healthcare provider.

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