1. Erika Castro, PGY 3 Cook County-Loyola-Provident Family Medicine Residency 2/27/2014 PRENATAL SCREENING AND DIAGNOSIS COUNSELING http://www.kempsvillechiro.com/articles/pregnancy_and_chiropractic_care.html

2. Objectives  Prenatal Counseling: Define, Goals, Patient  Methods Available:  Invasive vs. Non-invasive  The Counseling Session: Things to consider

3. Prenatal Counseling:  Includes:  1. prevention  2. pre-screening counseling  3. Post test counseling (Ashvinder, 2010)  Counseling women about the risk of chromosomal or genetic anomalies in developing fetuses All couples have a 3-5% risk of having child with congenital problems.

4. The Goal of Prenatal Screening or Diagnosis :  To provide a means of identifying affected pregnancies so that parents/couples can make informed decisions about:  Plan of Care  Proceeding with the pregnancy (AAFP Clark 1989/Lowny 1995)

5. Patient’s Perspective:  Reassurance and Knowledge  Test Characteristics & Attitude about Abortion  Anxiety Provoking  Reproductive Autonomous Choice (Matthijs, 2008) http://www.downsyndromeprenataltesting.com/pre natal-testing-for-down-syndrome-does-it-respect-a- womans-right-to-choose/

6. ACOG Recommendations:  All women should be offered aneuploidy screening before 20 weeks  All women should have the option of invasive testing regardless of age  Primary provider should be able to discuss the detection rates, false positive rates, disadvantages & limitations (ACOG, 2007)

7.  Ultrasound  Maternal Serum Screening  cf DNA –Maternal Serum  Chorionic Villus Sampling  Amniocentesis  Percutaneous Umbilical Blood Sampling (PUBS) Non Invasive (Screening) Invasive (Diagnostic)

8. TestWhen DoneDetection Rate US (Nuchal Translucency) 10-14 Weeks 70% with 3.5-5% FP Serum Analytes (PAPP & HCG) 10-14 Weeks53-58% with 5 % FP QUAD Screen ( MSAFP, estriol, HCG, Inhibin A ) 15-21 Weeks80 % with 5% FP Cell Free Fetal DNA (Maternal Serum) >7 weeks98% with a 0.5% FP

9. Cell Free DNA:  Circulating Cell free fetal DNA  Derived from Placenta  Detects: Trisomy 13, 18 21  Who should be offered:  > 35 years or older  US findings with increased risk  Hx of child with Trisomy or parent carrying a balanced robertsonian translocation http://pressrelease.co.za/fetal-assessment-centre-offers/

10. Abnormal Screening Test:  Referral to genetic counselor  Detailed Anatomical US  Offer Diagnostic Testing  Advanced maternal age  Family history of chromosome abnormality  Genetic disease Hx  Concerns of patient

11.  > 15 weeks  Amniocytes cultured  Disadvantages  Loss rate 0.1-0.5%  10-13 weeks  Trophoblasts cultured  Disadvantages  Loss rate 0.5-1% Chorionic Villous sampling Amniocentesis

12. Options for Pregnancy :  Continuation with Pregnancy  Adoption  Termination  Hospice  Support groups (Birthdefects.org)

13. The Session:  Social Factors Assess the risk of birth defects or recurrent pregnancy loss Assess the patients family support system Religious views View of what is “Normal” View on Termination  Non Judgmental and Non directional  Important that patients not be required to make definitive decisions about how they will respond to the results

14. Summary : Patient Autonomy Fetal Anomalies Individualize Counseling Sessions Primary Providers Ability More than a Lab

15. Resources  1K. Dahl, L. Hvidman, et al. First-Trimester Down Syndrome Screening: pregnant women’s knowledge. Ultrasound Obstetrics Gynecology 2011; 38: 145-151. Wileyonlinelibrary.com.  2Matthijs van den Berg D., Timmermans, et al. Understanding Pregnant Women’s Decision Making Concerning Prenatal Screening. Health Psychology by the American Psychological Association. 2008, Vol. 27, No. 4, 430–437.  3Van den Heuvel A, Chitty L, Dormandy E, et al. Is informed choice in prenatal testing universally valued? A population-based survey in Europe and Asia. BJOG 2009;116:880–885.  4Zuzana D., Ainsley J. N., et al. Should Non-Invasiveness Change Informed ConsentProcedures for Prenatal Diagnosis? Health Care Analysis (2011) 19:122–132.   5Hunt, Linda M. and Voogd, Katherine B. Are Good Intentions Good Enough?: Informed Consent Without Trained Interpreters. 2007 Society of General Internal Medicine 2007;22:598–605  6K. E. Ormond, and Iris, M., et al. What do Patients Prefer: Informed Consent Models for Genetic Carrier Testing. Journal of Genetic Counseling (2007) 16:539–550  7Ashvinder K, B., Brunger, Fern. Prental Genetic Counseling in Cross cultural medicine: a framework for family physicians. Canadian Family Physician (2010) 56:993-999.  8 J. CHRISTOPHER GRAVES, M.D., and KARL E. MILLER, M.D., Maternal Serum Triple Analyte Screening in Pregnancy. American Family Physician. 2002 Mar 1;65(5):915-921.  9 Elias S, Simpson JL. Genetic counseling. In: Elias S, Simpson JL, eds. Essentials of prenatal diagnosis. New York: Churchill Living-stone, 1993:3–13.  Noninvasive prenatal testing for fetal aneuploidy. Committee Opinion No. 545. American College of Obstetricians and Gynecologists. Obstet Gynecol 2012;120:1532–4

16. THANK YOU !