PPT-Gene 210 Fetal/Prenatal Sequencing

May 19 2015 Todays Plan Innovations in prenatal diagnosis Gitler Anneuploidy Mendelian disorders Noninvasive diagnostic technologies Yair Blumenfeld MD clinical aspects cell. Screening & . Testing. 13 November 2014. Rels. . 300 / . Nurs. . 330. Prenatal Screening vs. Prenatal Diagnosis. Screening:. aim is to identify women who have increased risk factors (larger than the general population of pregnant women) for having a child with a congenital anomaly. (very) large datasets. 5/23/17. Goals for the course. Understand how next-generation sequencing technologies are used in biomedical research. Learn how to use publicly available databases/websites to find specific information about genes. SENIOR LECTURER/ OBSTETRICIAN GYNAECOLOGIST. OUTLINE. Introduction. Historical Background. Screening tests. Genetic counselling. Diagnostic tests. Techniques for Prenatal diagnosis. Fetal. surgery. Conclusion. determination of fetal blood groups. Laurie Lee, MD, PhD. Blood Bank Rotation. May 2016. Tumors release cell-free DNA (. cfDNA. ) into circulation. Mandel . P, . Metais. . P. Les . acides. . nucleiques. Sir Ganga Ram Hospital Rajinder Nagar, New Delhi 110060 Telephone Nos: Direct 011 - 25861767; 42251382. Fax No. 42251034. Email: dr_icverma@yahoo.com The Most Comprehensive Neurogenetic Diagnostic Pro Cell-free . fetal. DNA (. cffDNA. ). Maternal blood contains . maternal AND . fetal. . DNA. The . fetal. DNA in maternal plasma is called . cell free . fetal. DNA (. cffDNA. ). Originates from trophoblast (placenta). The Beginning. Conception. Female ovulates. Male releases at least 20 million sperm. Only a fraction reach the fallopian tubes. Many penetrate the ovum. Only one fertilizes the ovum. Occurs approximately 14 days after beginning of menstrual cycle. Hb. disorders. Ass.prof.Abeer. . Anwer. Ahmed. DNA diagnosis. The majority of samples are obtained by chorionic . villus. biopsy, although amniotic fluid cells are sometimes used. .. Techniques to . M. AL-. Badran. M.B.ch.B,C.A.B.O.G,F.I.C.M. Aim . To make . undergratuate. familiar with the tests used for screening and . dignosis. of fetal abnormality.. . Screening test. All women. Non invasive. - An overview of the technology. - Analysis software. - Fetal fraction (FF). - What is fetal fraction?. - Why fetal fraction is used. - Dynamic fetal fraction. Module 6:. NGS and Fetal . F. raction. Prenatal Care.  . Prenatal care refers to the care that is given to an expected mother from time of conception is confirmed until the beginning of labor..  . Prenatal care has the potential to reduce the incidence of preterm birth and congenital anomalies and the infant mortality rate.. • • Promote the health of the mother, fetus, newborn, and family. • • Ensure a safe birth for mother and child by promoting good health habits and reducing risk factors. • • Teach health habits that may be continued after pregnancy.(. Jessica M. Fairey, MS, CGC. Assistant Director, Clinical Assistant Professor. USC Genetic Counseling Program. Prenatal & Adult Genetic Counseling Services. Prisma Health Department of . ObGyn. Conflict of Interest Statement. • Can decrease risk of pre-term babies or abortions • Can decrease mortality rates ( ectopic pregnancy, hypertension, embolism, infection, hemorrhage are the main causes of death during pregnancy) The first prenatal visit • Establish a baseline data. • Explain why specific data are related to pregnancy • Discuss weight changes and physical changes during pregnancy • Urine analysis • Establish communication in a private, quite setting • Confirm pregnancy: assess for signs of pregnancy.