Are you tensed..?
Since the spouses suffered from many hereditary diseases, they were worried about their baby to be born needn't worry.
Now new technics to detect foetus of hereditary diseases have been in use.
It is better to consult a doctor if you have a family history of hereditary diseases, Genetic counselling is in vogue in western countries
now.
Doctors will explain about the possibility of the baby contracting the disease and how it can be avoided. Care to be taken during
pregnancy, medical test to be taken etc., will be understood.
If the family history of the mothers shows hereditary diseases, she must consult a doctor even before conceiving to avoid complications.
CHORIONIC VILLUS BIOPSY
The treatment is decided based on various factors. Pregnancy period is the most important. Treatment differs based on the type of
hereditary diseases. Ultrasonography, blood tests, foetal cell examinations, amniotic fluid evaluation etc. usually tells the doctor about
the possible genetic problems affecting the foetus. If there is a chance of baby contracting a disease due to chromosomal dysfunction,the
modern treatment called chorionic villus biopsy can be done.
These are the usual situations in which chromosome examinations are done
1. If the age of the conceived mother is above 35 years
2.If the first child suffers from mongolism
3.If there is a history of abortions within the first 3 months.
4. If the first child,suffers from birth disabilities due to chromosome incompatibility
5.if a male child suffered disability due to X-chromosome incompatibility various methods are available to examine the chromosomes. The
first examination that can be done in the 11th week is the chorionic villus biopsy. Amniotic fluid cell culture can be done in the 14th
or 18th week of pregnancy and chordocentesis can be performed at 20th week. Hereditary disabilities of ant type can be known from the
above tests. Amniotic fluid examination helps us to know about the genetic diseases. Amniotic fluid is taken from the uterus using a
syringe, without possibly affecting the placenta.
The amniotic fluid initially taken is not usually used since it may contain maternal cells, therefore the result may vary. 20ml amniotic
fluid taken the second time is usually used in the laboratory examinations. Blood test of the foetus can be performed by 18th or 20th
week. the cells of foetus is larger than that of the mother and thus distinguished. Blood related genetic diseases like haemophilia,
thalassemia, sickle cell anaemia etc. can be diagnosed primarily by the blood test.
If possibility of genetic disorder is not high, the serum in the blood can be examined to diagnose the foetal disorders. 16-18 weeks
growth of foetus is needed to perform this test. Examination of level of plasma proteins can detect diseases like mongolism, says certain
studies. This can be performed in the first month of pregnancy itself. Alpha foeto protein can also evaluated. If the quantity seems to
be low, genetic diseases can be doubted
Foetal disorders can be diagnosed through ultra sound examinations. foetus may suffer from improper development of brain and spinal cord.
If such a situation is doubted in a pregnant mother, ultra sound should be performed 14th or 16th week itself. Ultra sound scan performed
at 20-22 weeks, diagnose about 70% of disabilities. Problems affecting heart, duodenum, food pipe, split palette, improper development
of the ears, disorders affecting legs etc., can be detected through ultrasound scanning. Cataract of the foetus can be detected by
specialist ultra sound scans. If there ever is a doubt regarding any particular disease, then it is better to repeat the scan after 2-3
weeks. If doubts still persist, foetal blood examination (cardocentesis) can be done.
Before implanting into the uterus
Artificial insemination and sperm banks are now being common in India. The sperm and ovum donors are checked for genetic disorders in
European countries. Such tests are available in Kerala also nowadays. Before implanting the fertilised ovum into the uterus it is
possible to detect genetic disorders through biopsy. This is performed when 6- 10 cells have formed. Development of foetus does not have
any hindrance due to this procedure. X-chromosome incompatibility is commonly seen in males so the sex of the artificially inseminated
foetus is analysed before the implantation into the uterus. Many dangers are associated with the various examinations like amniotic fluid
examination, blood evaluation of the foetus etc.1% for amniotic fluid examination 2-3% for chorionic villus biopsy ,1% for foetal blood
evaluation. These examinations should be performed under the guidance of specialist doctors only. If ever there is a history of
hereditary disease, gynaecologist should be notified and should take their expert advice before conceiving.
If the prospective mother is on insulin, she should control her sugar level before three months of conceivement If the first child
suffered from nerve disorders, the mother should take folic acid, vitamin A etc. at least three months before the next conceivement
Marriage between close relatives should be avoided. If there is no history of abortions, or any problems for the first baby, ultra sound
scan need to be done at 16-18 weeks only.