What Is Pre-implantation Genetic Diagnosis?

Pre-implantation Genetic Diagnosis (PGD) is a novel diagnostic process that is used to determine if an embryo, which was created via in vitro fertilization (IVF), will be affected by the genetic disorder or not. It is mostly used by women who are likely to give birth to a child having a genetic disorder. 

The process of PGD is used in place of prenatal diagnosis (PND). It is also referred to as Prenatal Diagnosis (PND). It is the next step carried out after Prenatal Screening (PNS) which is done after applying noninvasive techniques, such as ultrasonography and maternal serum screening. These non-invasive procedures specify whether the developing fetus is at risk of developing a congenital condition or not.

Savior Sibling

A “savior sibling” is an adolescent who was born off a cell transplant or an organ to a sibling who is suffering from a fatal disorder, for instance, a genetic defect or blood disorder. The donor stem cells are extracted from the bone marrow or umbilical cord. Selective reproduction technology (SRT) is the process of producing one possible child which is quite different from the possible future child.

Selective reproduction is done either by choosing embryos or by sperm selection. Prenatal Diagnosis authenticates the findings of PNS. The main methods used in the process of PND are Ultrasonography, Amniocentesis, and Chorionic Villus Sampling.

Ultrasonography is usually used for the diagnosis of conditions having structural abnormalities. During the process of Amniocentesis, a needle enters the amniotic sac via insertion through the abdominal wall. The syringe then extracts a small sample of amniotic fluid from the amniotic sac to be evaluated in the laboratory.  

During Chorionic villus sampling (CVS), either a thin needle is inserted into the wall of the abdomen, or a small tube is passed via the vagina and the cervix to extract a small sample of the Chorionic Villi (placental tissues). CVS is preferred over amniocentesis, as it is conducted at 11-13 weeks rather than 15-18 weeks of amniocentesis. Early testing allows women to terminate the pregnancy before the sensation of fetal movements that have been felt, as termination after this sensation is psychologically quite difficult and has religious concerns. Amniocentesis increases the risk of miscarriage (1-2% versus 1% loss rates).

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