![Genetic Factors & Recurrent Pregnancy Loss Dr. Raju R Sahetya M.D., D.G.O., D.F.P., F.C.P.S., F.I.C.O.G., OBSTETRICIAN & GYNAECOLOGIST Specialist: Infertility & Maternal Fetal Medicine Hospital Pushpaa Hospital Mumbai, India www.pushpaahospital.com , [email_address] Mobile 9821090102 Honorary Hinduja Hospital * BSES Hospital Mumbadevi Hospital * Hiranandani Hospita](https://image.slidesharecdn.com/geneticfactorsinrpl-111126081144-phpapp02/85/Genetic-factors-in-rpl-1-320.jpg)
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Genetic factors in rpl
- 1. Genetic Factors & Recurrent Pregnancy Loss Dr. Raju R Sahetya M.D., D.G.O., D.F.P., F.C.P.S., F.I.C.O.G., OBSTETRICIAN & GYNAECOLOGIST Specialist: Infertility & Maternal Fetal Medicine Hospital Pushpaa Hospital Mumbai, India www.pushpaahospital.com , [email_address] Mobile 9821090102 Honorary Hinduja Hospital * BSES Hospital Mumbadevi Hospital * Hiranandani Hospita
- 2. Vice President Indian Society for Prenatal Diagnosis & Fetal Therapy (ISPAT) Member Excecutive Council Mumbai Obstetrics & Gynaecology Society (MOGS) Association of Fellow Gynaecologist (AFG) Assciation of Medical Consultant (AMC) Current Position Held MOGS – PNDT & Academic Cell, FOGSI – Sexual Medicine Committee Editorial Board – ISPAT International Journal of Prenatal Diagnosis & AFG Times Rotarian Past President Rotary Club of Bombay Airport
- 3. “ I OWE TO MY ALMA MATER !”
- 6. Genetic factors Anatomical factors Endocrine Infective agents Immune factors Inhereted Thrombophilic defect Explained Un-explained Recurent Miscarriage Enviromental factors Body Cervix Paternal karyotyping Cytogenetic Of miscarriage C I Uterine anomalies APS Bacterial Vaginosis
- 12. Karyotype
- 15. NABL ACCREDITED (ISO / IEC – 17025) Accreditations Experienced Medical Geneticist Qualified staff State of the art equipment. Reliable reports Minimum turn around time. Interaction with physician. Choosing the Centre Accessibility
- 16. Methods Of Study
- 20. C E MORPHOLOGY & KARYOTYPE OF VILLI NORMAL-46,XX/46,XY CLUBBING- VARIABLE - - MOLAR- 46,XX / 46,XY HYPOPLASTIC- 45,XO CYSTIC- 69,XXX/XXYTRI-16
- 21. Exomphalos. Trisomy 18. Holoprosencephaly Trisomy13, 15. Choroid Plexus Cyst Trisomy 18. Nuchal Translucency Trisomy 21.45X. Ventriculomegaly 13,18,21 Cystic Hygroma 45X. Abnormal USG Findings
- 22. Correlation With Developmental Age
- 23. Trisomy 18 Monosomy X Triploidy Trisomy 13 Trisomy 21 Fetuses With Visible Malformations
- 25. Karyotype FISH Needs viable ,specific tissues Any fetal tissue either fresh, frozen or paraffin block Culture essential Uncultured cells work. Selective growth of maternal decidua Not possible. Screens all chromosomes and used for > 40 yrs now for establishing etiology. Screens for major aneuploidies (13, 18, 21, X and Y) Turn around time 2 weeks Turn around time 2 days Ideal for focal anomalies
- 26. FISH Newer Techniques
- 27. Karyotypes & Prognostic Significance
- 29. Risk Estimation & Follow Up
- 31. Subsequent Pregnancy CHORIONIC VILLUS SAMPLING 10-11 WEEKS AMNIOCENTESIS 15-17 WEEKS
- 35. Thank you