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Genetic Counseling
Introduction
Dysmorphologist Corner
 
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Bartsocas-Papas Syndrome
Neu laxova
Robert's Syndrome
Meckel Gruber Syndrome
Golden har
Achondrogenesis
Lethal Pterygium syndrome
Turner's Syndrome
Morquio Syndrome
Ellis-van Creveld syndrome
Femoral hypoplasia
   
     
  Genetic Counseling - Introduction  
     
 
As the ultrasound department grew and complex antenatal diagnosis were made, it became important to provide information, guidance and counseling for families faced with problems. This resulted the development of an exclusive genetic counseling department. Couples who have had problems in previous pregnancies and those who have genetic disorders in their families are counseled here.
 
     
  Four Categories of Counseling:  
 
Pre-pregnancy counseling
 
People with family /personal history of physical / mental deformities with or without consanguinity are offered counseling regarding the probability of the risk they carry for the particular disorder.
 
Example: Mr. x and Mrs. x came for premarital counseling. They were first cousins. Ms X had lost her brother at 20 years of age. The boy was born at term, had birth asphyxia, neonatal jaundice and convulsions from day 4. All motor and mental milestones were delayed. He was kept stable on anticonvulsants. He was admitted for prolonged and recurrent seizures at age seven. The possible diagnosis after a series of investigations was Adrenoleukodystrophy. There was neuroregression from 12 years of age. The boy progressively lost acquired milestones. He died at 20 years of age. There are no other affected members in either side of the family. The exact etiology of his condition is not clear. Adrenoleukodystrophy is an X linked disorder. 50% of female offsprings could be carriers and 50% of male offsprings could be affected. However, no confirmatory diagnosis has been done. Hence we will not be able to predict the risk of a similar nature in his sister's offsprings.
We have done karyotyping for Ms X and Mr. X to rule out chromosomal abnormalities. The reports are normal. We have started her on periconceptional folic acid and Vitamin B12 supplement from now onwards.We extend our best wishes to the couple. They may contact us for further advice when her pregnancy is confirmed.
 
     
 
Antenatal Counseling
  Antenatal counseling is done at our centre for women with
 
  • Abnormalities detected in pregnancy
  • Prior pregnancy losses
  • Previous pregnancies / children with abnormalities
  • Need for antenatal diagnosis of problems.
  •   Counseling is also done for downs syndrome screening.
     
    Downs syndrome occurs in about 1 in 600 pregnancies all over the world. Down’s Syndrome is a chromosomal abnormality where the child is born with an extra chromosome 21. This manifests as varying levels of mental retardation, heart defects, low muscle tone and some gastrointestinal (stomach and bowel) defects.
    Any woman can have a baby with Downs syndrome and therefore there are screening tests for this.The risk of having a baby with Downs syndrome varies with the mother’s age. Even though as the mothers age increases, the risk increases, 70% of babies with Down’s Syndrome are born to younger mothers and therefore screening is offered to all women.
     
    At our centre, we counsel women for screening and offer definitive or invasive testing when indicated... click here
     
         
     
    Work up of Index case with anomaly
     
    Parents with an affected child are offered counseling. The nature of the problem of the previous child and its recurrence risk. Is worked up and explained to the parents. If diagnosis is not assigned for the index child, the child is subjected to diagnostic tests. In case of an ongoing pregnancy prenatal diagnosis is attempted to diagnose the problem in the fetus. This process facilitates the parents to know that the current pregnancy is normal or carries a baby with the same defect.. The state of the art Cytogenesis laboratory and the Clinical laboratory of the organization cater to these patients. For molecular diagnosis of specific and rare genetic disorders samples are sent abroad for diagnosis.
       
     
    Example: A couple had come to us for pre pregnancy counseling. On reviewing their history, both their children were affected with Farber's disease. Farber's disease is a metabolic disease due to Ceramidase enzyme deficiency. We had contacted laboratories abroad where enzyme estimation as well as mutation analysis are being done. Since it is a very rare disease, very few laboratories are involved in this process.
    One of the professor in France - Dr. Levade was willing to do the test at free of cost (patient belonged to a low socio economic group) parents sample along with the child's blood sample was sent to France and there it was detected as Farber's disease. With this index child's work up, now we can proceed with the prenatal diagnosis in the subsequent pregnancies. Presently the mother has an ongoing pregnancy and Prenatal is planned in January 05. This will be first prenatal procedure in INDIA for Farber's Disease
     
         
     
    Fetal autopsy counseling
     
    Also parents with complete work up of previous bad pregnancy outcome with postmortem report of the previous child or with bad obstetric history are also counseled in detail and guidance given for planning the next pregnancy.
     
         
     
    Related services
    Apart from counseling services and meticulous documentationof records all patients, the department is also actively involved in the activities of the Birth Defects Registry of India and the Support Group for MPS. The Cytogenetics Laboratory and the Fetal Pathology Unit of the organization work in unison with the counseling department for the benefit of the patients.