Prenatal Diagnosis for Abnormalities Detection

Prenatal Diagnosis for Abnormalities espialPRENATAL DIAGNOSISThe incidence of major abnormalities app bent at deport is 2 to 3 percent. These anomalies cause a signifi toilettet portion of neonatal deaths, more than a fourth of all pediatric hospital politics results from communicable disorders. Prenatal diagnosing is the science of identifying structural or practicable abnormalities, birth defects in the fetus. With this information clinicians can hope to provide portion counseling and optimize outcome. Birth defects can arise in at least ternion ways. The malformation i.e structural fetal abnormality, so the deformation, then the third type is disruption. Sometimes multiple structural or developmental abnormalities occur together in one individual . A crew of several abnormalities can be a syndrome. Prenatal diagnosis helps to chance upon these abnormalities.Thus antenatal diagnosis basically comprises of different techniques and methods used to fasten any diseases or h eath condition of the unborn fetus or embryo.SOME PROCEDURES FOR EARLY DETECTION OF FETAL 1)GENETIC 2) CHROMOSOMAL 3)STRUCTURAL ABNORMALITIESAmniocentesis trine runChorion villus samplingCordoncentesisUltrasonographyFetoscopyMaternal serum alpha feto proteinPeri-implatation genetical diagnosisFetal cell isolation from maternal origination3-D or 4-D ultrasound with increased resolutiona) Amniocentesis This test is developed byRichard Dedrick .Examination of a sample of amniotic melted makes possible the prenatal diagnosis of chromosomal abnormalities and certain metabolic defects. The performance can be used as early as 14th week of maternalism when abortion of the fetus is still feasible. The diagnosis of chromosomal abnormalities is made by culture and karyotyping of fetal cells from the amniotic fluid, and of metabolic defects by biochemical epitome of the fluid. Karyotyping is a test used to incur genetic problems. Before the procedure begins a local anesthetic is given t o the find to get relief pitcher from the pain, a needle is inserted into the abdominal wall and then the amniotic fluid is withdrawn. The fetal cells are distinguished from the extract and the cells are cultu scarlet in medium, further stained and examined under microscope for abnormalities. Amniocentesis is very accurate in detecting the abnormalities in fetus as well as to aline the gender of the fetus, hence is banned in many countries. Amniocentesis is called for in the following circumstances if the parents are prepared to consider abortion. A mother aged 35 years or more (because of high risk of exposure of downs syndrome with advanced maternal age). Patients who have had a kid with overthrows syndrome or other chromosomal abnormalities. Parents who are cognise to have chromosomal translocation. Parents who have had a child with metabolic defect-detectable by amniocentesis. The closely commom are defects of the neural subway, anencephaly and spina bifida which can be observe by an elevation of alpha feto protein in amniotic fluidb) chorionic villus sampling(CVS) This is another prenatal diagnosis used to find chromosomal or genetic disorders in the fetus. CVS was first described in China in the mid-1970s. This technique is also called as chorionic sampling. This is usually performed at 10 to 13 weeks of pregnancy. This new technique allows prenatal diagnosis at 9 to 11 weeks of pregnancy. By this test the chromosome status can be substantially determined. Prenatal diagnosis of congenital abnormalities offers the parents the option of therapeutic abortion. Samples may be obtained transcervically or transabdominally, depending on which route allows easiest access to the placenta. Relative contraindications include vaginal bleeding or spotting, active genital tract infection, extreme uterine ante or retroflexion, or body habitus precluding easy uterine access or clear sonographic visualization of its contents. The indications for CVS are essenti ally the similar as for amniocentesis, except for a few analysis that particular(prenominal)ally assume either amniotic fluid or placental tissue. The primary good of villous biopsy is that results are available earlier in pregnancy, which lessens parental anxiety when results are normal. It also allows earlier and safer methods of pregnancy termination when results are abnormal. Complications of CVS are similar to those of amniocentesis. There is an understandable desire to perform CVS as early as possible. Technically, this can be make successfully as early as six weeks gestation. However, a few clusters of limb reduction defects have been inform following CVS, with a trend toward an increased incidence of these defects when CVS was done forwards nine weeks gestation. Subsequent, large epidemiological follow-up studies failed to confirm this association, but most clinicians delay this procedure until after 10 weeks gestation. The incidence of amniotic spring or infection is less than 0.5 percent.c) Alpha fetoprotein Neural subway defects can be detected by measurement of a specific protein of foetal origin called alpha fetoprotein in maternal line and amniotic fluid during pregnancy. A neural tube defect is termed as a opening in the brain or spinal corduroy that occurs very early in the developmental stage of human. Neutral tube defects include spina bifida.d) Ultrasound This can be used to visualize the fetus and detect many abnormalities of the foetus . Ultrasound is the method of choice for perception of anatomical problems (e.g. absent kidneys, spina bifida), but provides no information on the genetic constitution of a fetus. Maternal serum screening, alone or in combination with ultrasound, is often used to identify fetuses at risk of Downs syndrome, but the definitive chromosomal diagnosis can only(prenominal) be made from fetal cells.e) Fetal cells from maternal blood can be isolated for prenatal diagnosis during pregnancy. Fetal tropho blast, lymphocytes, granulocytes, and nucleated red blood cells are studied. Generally, 1ml of maternal blood contains one fetal cell.f)Peri-implantation genetic diagnosis(PGD) This is done by polar body biopsy, blastomere biopsy, trophectoderm biospsy. Polar body biopsy is done by removing first or second polar body in the preconceptional phase. Paternal genotypeis not assessed here. Blastomere biopsy one or two cells are aspirated done a hole made in zona pellucida by mechanical, optical maser or chemical means. This does not effect the normal embryonic development.g) three test This is basically a screening test. It mainly detects the presence of three substances in the maternal blood, i.e of alpha feto-protein, human chorionic gonadotropin(hcp)which is basically a hormone in placenta, and estriol. The triple test detects the presence of high direct or low aim of these substances. Both high and low level can creat abnormalities.h)Cordocentesis It is also called as Percutaneou s Umbilical Cord air Sampling (PUBS), this is a test that mainly examines the blood from the fetus to detect fetal abnormalities. The procedure carried out is quite similar to amniocentesis. This test helps in finding any malfunction and abnormalities of the fetus.i)Fetoscopy-This procedure provides a direct visualisation to the fetus, amniotic cavity, umbilical cord, and fetal side of placenta. It does this by ultrasound scanning. hither an endocope is inserted into the abdomen of the mother which acts as an analyzer.Thus many prenatal diagnosis are available nowadays which allows to detect any kind of abnormalities in the fetus. Once diagnosed, some genetic abnormalities can be treated with overtone or complete success by medical and surgical measures. inheritable counseling can also have impact when individuals or couples at risk are identified.