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 !”

4. Recurrent Pregnancy Loss

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

8. Pregnancy Loss

12. Karyotype

14. Choosing A Centre.

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