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CENTER FOR GENETIC HEALTH CARE
CENTER FOR GENETIC HEALTH CARE
formerly Birth Defects Center
(Govt. Approved Prenatal Diagnostic Center)
CENTER FOR GENETIC HEALTH CARE
formerly Birth Defects Center
 BOMBAY : A-11, Elco Arcade, Hill Road, Bandra,
Mumbai 400 050. India
Tel. Cl: 642 0428, 640 0118, Resi: 6480190, 605 1184, 604 7315.
Fax:91-22-6410373
E-mail:medgen@giasbm01.vsnl.net.in
E-mail:amt.bdc@axcess.net.in
CALCUTTA : Flat No. 44, Futnani Chamber (Gate No. 8) Corporation Place,
Calcutta 700013. IndiaTel.: 244 8861 Fax:91-33-2422877/2448861
BIRTH DEFECTS CENTRE
Dr. Hema Purandare
M.B.B.S., M.S., M.S.C.G.(U.S.A.)
Dr. Amit Chakravarty
M.Sc., Ph.D., M.S.C.G.(U.S.A.)
ABOUT THE ORGANISATION
The center is actively involved in GENETIC HEALTH CARE of Unborns, Children and Adults for the last 15 years. Facilities available at the centre are unique and under one roof. The team of Doctors is well trained in India and abroad. They keep abreast with the flux of genetic information and have been introducing the newer tests. The Centre offers counselling for pre-marriage, pre-pregnancy & high-risk cases in heritable & non-heritable birth defects. There are speciality clinics for the patients & families of Downs & Turners syndrome, Mental retardation and Thalassaemia. The Centre has well equiped LABORATORY to process samples for CHROMOSOME, ENZYME & DNA, analysis. Facilities like abortus studies, fetal autopsies, sperm banking, semen wash, Ultrasonography for fetal anamolies scan, fetal echocardiography are also available. Training facilities for physicians interested in GENETIC practice is provided. If patients are unable to attend the centre, samples are accepted form doctors within the city and outside. Clinical history & whenever possible photographs of the affected should be sent with the samples. In case of samples sent for prenatal diagnosis, copy of the informed written consent from the patient regarding safety and efficacy of the test should be included.
GENETIC COUNSELLING
This is an educational process that assists affected and or at risk individuals for themselves & their progeny, to understand the nature of genetic disorder, its transmission and the tests available to them in management and family planning. Cost effectiveness is also discussed.
WHO NEEDS GENETIC COUNSELLING ?
 Patients with bad obstetric history
Family H/O abnormal births
Maternal age above 35 years
Consanguine marriage
Maternal diseases, anxiety
Exposure to X-ray, Drugs and infections in Pregnancy
Abnormal ultrasound findings.
Communities at risk for genetic disorder e.g. Thalassaemia
CHROMOSOMAL ANALYSIS
Genetic information is carried on chromosomes which control fundamental biological process. In human 44 autosomes and two sex chromosomes are present [XY in and XX in ] in all the cells. In germ cells they are 22 + X or Y. With tissue culture the metaphases are obtained, stained, photographed and karyotyped..
The commenly studied tissue are periheral blood, skin, abortus tissue, chorionic villi, amniotic fluid cells, bone marrow and tumor tissues. Any alteration in number, or structure of chromosomes have different consequences.
BLOOD : INDICATION
Patients with bad obstetric history.
Unexplained infertility in males and females. Males with oligoazoospermia.
Primary and Secondory amenorrhea.
Sexual infantalism in males and females.
Patients with dysmorphic features.
Haematological disorders.
SPECIMEN : 2 ml heparinized blood in an autoclaved bottle.
ABORTUS STUDIES :
Early gestational sonography and aggresive analysis of fetal chromosomes have shown 77 % of early fetal loss, is due to chromosomal factors. Genetic & H.P. study of fetal wastage helps to understand the cause of counselling and management for future pregnancies.
SPECIMEN : Products of conception in autoclaved bottle with normal saline, and few drops of antibiotics. In malformed fetuses give details of clinical features/Photographs/X-rays if possible.
CHORIONIC VILLUS SAMPLING(CVS)
This can be done between 8-12 weeks of pregnancy (early CVS) or at later generation - Late CVS (placental biospy). This is a simple O.P.D. procedure under ultrasound guidance & has only 1 to 2 % risk of abortion. Fetal Karyotype report is available within 2 to 8 days with 99% reliability. This tissue can be studied for enzyme and molecular defects in indicated cases.
SPECIMEN : Collect 15 to 30 mg of cleaned chorionic villi in provided media & container. Prior intimation to LAB is necessary.
AMNIOTIC FLUID :
At 14 to 16 weeks of pregnancy clear amniotic fluid is obtained under USG guidance. With new molecular cytogenetic technique, FISH, (Fluroscent In Situ Hybridization) uncultured amniotic cells can be used for diagnosis of numerical chromosomal anomalies in the fetus.
SPECIMEN : 15 to 20 ml. Amniotic fluid.
CORDOCENTESIS :
1 ml. of Cordblood sample is ideal in case of discordant cytogenetic results in CVS or in abnormal USG findings & for FETAL BIOCHEMISTRY.
FETOSCOPY : Is used for detection of structural malformations (at 18-20 weeks) for obtaining fetal skin biospy e.g. in albinism, epidermolysis bullosa.
MOLECULAR GENETICS:
DNA ANALYSIS :
Human chromosomes are composed of Nucleic acid (DNA or RNA), Phosphate and Sugars. Double helix DNA acts as a skeleton of Human Chromosome and help to store all the messages (codes) of basic cellular function. The combination of bases i.e. Adinine (A), Guanine (G), Thymine (T), and Cytosine (C) help to form words or genes which carry basic messages from nucleus to cytoplasm. Any alteration in basis can lead to genetic defect. With the help of a set of enzymes and nucleotides (bases) it is possible to make a compliment copy of known genes which can be used as a DNA probe for detecting the same defective genes in analysed tissues.
With the help of set of enzymes and hybridisation technques, disease specific probes are developed. By using PCR (Polymerase Chain reaction) technique, even DNA from new uncultured cells can be amplified to billion number and is avaiable for diagnosis.
FETAL DIAGNOSIS BY CIRCULATING FETAL CELLS IN MATERNAL BLOOD:
Few fetal cells are circulating in maternal blood after 6 weeks of pregnancy, by using density gradient and magnetic cell sorter, these cells are separated and amplified by using PCR technique. Currently specific DNA probes, "Y" and 21 are available for the prenatal diagnosis.
INDICATIONS :
For diagnosis in sex linked disorders. Down syndrome.
SPECIMEN :20 ml of maternal blood in EDTA Bulb.
PRENATAL DIAGNOSIS OF THALASSEMIA MAJOR :
In India 6,000 (aprox) babies are born each year with Thalassemia major. It is now possible to detect this prenatally by CVS & PCR technique with 99.5 % reliability. Family studies for linkage analysis is preferably before or at the time of diagnosis.
Carrier detection and prenatal diagnosis is also available in following conditions :
Duchene muscular dystrophy
Becker, muscular dystrophy
Haemophilia A
Sickle cell anaemia
Cystic fibrosis
Fragile X syndrome
Retinoblastoma PKU
TORCH Infection.
Use of 'Y' probes in menstrual Irregularities.
In primary amenorrhea and disorders of sex differentiation minute quantity of 'Y' chromosomal material which is missed on fluroscent studies can be picked up to 'Y' DNA studies. 6 to 8 % of chromosomally normal primary amenorrhoea cases can show this pattern and is important for clinical management, as they are at risk for gonadoblastoma or dysgerminoma.
SPECIMEN : 10 ml of blood in EDTA bulb.
BIOCHEMICAL ANTENATAL SCREENING TEST
FOR DOWN'S SYNDROME
Tripple test : AFP / HcG / Estriol - at 15-18 weeks of pregnancy is indicative of high risk for Down's syndrome. In the fetus test is based on the principle that fetuses at risk for Down's syndrome are biochemically immature hence their values are different than normal fetuses at the same gestational age. If the serum test is positive, fetal chromosomal studies are indicated. Elevated Sr.AFP is indicative of possibility of Neural Tube Defects and GI tract anomalies.
SPECIMEN : 2 ml of serum in sterile bulb. Please give details regarding maternal age weight, gestational age by ultrasound.
METABOLIC SCREENING :
4 to 8 % sick babies in paediatric wards have genetic problems. Babies with vomiting, lethargy, coma, seizures, failure to thrives, feeding problems, progressive neurological disorders, RDS, jaundice, hepatomegaly, dysmorphic feautures need this screening & chromosomal analysis. Confirmation of genetic diagnosis is an index case of important for management as well as planning for future prenatal diagnostic tests.
SPECIMEN : 10 cc fresh morning urine. 4 cc heparinized blood in sterile bottle.
INVESTIGATE THE AFFECTED.
ULTRASOUND : TARGET ORIENTED FETAL ANOMALY SCAN
This is carried out at 18-20 weeks of gestation & is aimed at picking up chromosomal and non-chromosomal syndromes by using specific sonography markers for diagnosis, prognosis and management. In abnormal ultrasound findings, fetal chromosomal studies by late CVS, or Fetal blood sampling is indicated.
FETAL ECHOCARDIOGRAPHY
Approximately 8 in 1000 fetuses are affected with minor or major congenital heart defects. These can be picked up by 2D and M Mode fetal echocardiography at 18-20 weeks of pregnancy. Hence routine use is advisable.
INDICATIONS :
MATERNAL AND FAMILIAL
H/O congenital heart defects, maternal diabetes, drug exposure during pregnancy, alcoholism, TORCH infection.
FETAL
Polyhydramnios, oligohydramnios, nonimmune-hydrops / dysrrhythmias, extra cardiac anomalies, IUGR
OTHER FACILITIES
Cryopreservation of sperms : Indications-Therapeutic donor insemination (TDI) Absentee Husbands/Neurological Disorders and sexual problems. Prior to chemotherapy, radiations and vasectomy. Sperm wash for AIH and IUI. Antisperm antibodies, Semen analysis - Routine & YFF studies TOUCH assay.
TRAINING FACILITIES
1. For Obstetric Procedures in fetal issue sampling.
2. Fetal DNA analysis
3. Genetic metabolic studies
4. Cytogenetics studies of Fetal Tissues, blood & bone marrow.
5. Sperm bank and sperm wash technique.
6. Ultrasonography
7. Fetal echocardiography
8. Art & Science of genetic counselling.
Video tapes available on early and late chorion villus sampling includes obstretic and LAB Procedures, USG markers for diagnosis of syndromes and Fetal echocardiography.
For appointment & further details contact :
BOMBAY : A-11, Elco Arcade, Hill Road, Bandra,
Mumbai 400 050. Tel. Cl: 642 0428, 640 0118, Resi: 6480190, 605 1184, 604 7315.
PUNE : 66, Patil Arcade, Off Karve Road, Erandwana,
Pune-411 004. Tel.: 343266.
CALCUTTA : Flat No. 44, Futnani Chamber (Gate No. 8) Corporation Place,
Calcutta 700013. Tel.: 244 8861.
CONSULTANT MEDICAL & MOLECULAR GENETISITS
Dr. Hema Purandare
M.B.B.S., M.S., M.S.C.G.(U.S.A.)
Director, Med-Gen Diagnostic & Research Centre Pvt. Ltd.
Visiting Consultant :
Bhabha Atomic Research Centre Hospital, Bombay
Dwarika Sangamnerkar Medical Foundation, Pune
Peerless Hospital & B.K. Roy Research Centre, Calcutta
Dr. Amit Chakravarty
M.Sc., Ph.D., M.S.C.G.(U.S.A.)
Director, Med-Gen Diagnostic & Research Centre Pvt. Ltd.
Visiting Consultant & Incharge of Genetic Centre :
Peerless Hospital & B.K. Roy Research Centre, Calcutta
EARLY DIAGNOSIS & TIMELY MANAGEMENT
IS BETTER THAN REHABILITATION.
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