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Detection of Chromosomal Abnormalities in Prenatal Samples.

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Detection of Chromosomal Abnormalities in Prenatal Samples.
Research proposal for Ph.D.

Subject: Detection of chromosomal abnormalities in prenatal samples.

In this 21st century, due to fast life, marriages occur at late age, and thus, possibilities of genetic abnormalities in next generation rises. Consanguineous marriages may also the cause of genetical abnormality in feotus. Now a day it should be necessary to know genetic makeup of child before birth to prevent abnormal cases.

To overcome this problem, detection of chromosomal abnormalities in feotus has been introduced. By studying prenatally, (before birth with the help of amniotic fluid and chorionic villus) we can prepare genetic makeup, i.e. karyotype) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic disorders. So, with use of this technique if, any abnormality detect, parent can abort their child. It is really advisable for the termination of pregnancy rather than giving birth to the abnormal child.

Indications for cytogenetic study prenatally:-

▪ Women with 35 years of age or older at pregnancy

▪ A women or her partner who carries chromosomal abnormality

▪ Maternal Serum Screening, i.e. Women with an abnormal level of maternal serum AFP (Alpha Feto Protein), hCG or uE3 (uncongunated estrol).

▪ Abnormal feotal ultrasound

▪ Family history of chromosomal abnormality.

▪ Risk of neural tube defect

With indications like above, parents should suggest for prenatal diagnosis to prevent abnormal child.

Diagnosis:-

Invasive methods like amniocentesis during15-17 weeks of gestation or CVS (chorionic villus sampling) during 9-11 weeks of gestation are done under guidance and supervision of respective clinicians. After that, collected amniotic fluid or chorionic villi are taken for cytogenetic diagnosis with use of specific media like, amniomax or amniomed, growth media like chang’s complete media etc. As, villus or AF needed to kept for

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