New Prenatal Tests for Down Syndrome: Brian G. Skotko, MD, MPP Co-Director, Down Syndrome Program Massachusetts General Hospital

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1 New Prenatal Tests for Down Syndrome: International Updates and What This All Means for Your Family Brian G. Skotko, MD, MPP Co-Director, Down Syndrome Program Massachusetts General Hospital Band of Angels Foundation

2 Goals Review the current and upcoming Down syndrome prenatal tests Review the international efforts regarding prenatal testing. Review what you can be doing

3 Down Syndrome Trisomy, chromosome 21 Translocation, 14 and 21 Mosaicism, chromosome 21 1 / 691 children About 400,000 families in US About 5,000 children born / yr (National Down Syndrome Society & CDC) Band of Angels Foundation

4 Prenatal Diagnosis Old recommendation: all pregnant women over the age of 35 be offered an amniocentesis 1978: National Institutes of Health (NIH) 1983: American Academy of Pediatrics & American College of Obstetrics and Gynecology New recommendation: screening and invasive diagnostic testing should be available to all women... regardless of age. 2007: American College of Obstetrics and Gynecology 2008: American College of Medical Genetics

5 Prenatal Diagnosis of Down syndrome Prenatal Screening* Triple Screen: (βhcg, AFP, ue 3 ) Quadruple Screen: (βhcg, AFP, ue 3, inhibin-a) Prenatal Diagnosis Chorionic Villus Sampling: ~99.9% (10-14 weeks, 1% spont termin) Amniocentesis: ~99.9% (after 15 th week; 0.25% spont term) First-trimester Combined: (Ultrasound, βhcg, PAPP- A) Integrative Screen: Sequential Screen: Independent Stepwise Contingent * NEJM (2005), 353:

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10 Sensitivity: 100% Specificity: 97.9% PPV: 96.6% NPV: 100% N = 312, 2-plex

11 Sensitivity: 100% Specificity: 99.7% PPV: 97.5% NPV: 100% N = 449, 4-plex

12 Sensitivity: 98.6% Specificity: 99.8% PPV: 98.6% NPV: 99.6% N = 1683, 4-plex Insufficient samples: 2.5% Failed test: 0.8%

13 TRISOMY 18 TRISOMY 13 Sensitivity: 100% Specificity: 99.7% PPV: 92.2% NPV: 100% Failed test: 0.9% N = 1747, 4-plex Sensitivity: 91.7% Specificity: 99.1% PPV: 40.7% NPV: 99.9% Failed test: 0.9% N = 1700, 4-plex

14 Sequenom

15 Verinata

16 Ariosa

17 Natera

18 Shotgun Sequencing: cfdna Risk: A simple blood test, no risk to the fetus Accuracy: 99% sens, 99% spec; 99% PPV; 99% NPV Eligibility: 100% of the population will be eligible for the test Timing: performed as early as 10 weeks of gestation Availability: commercially available right now by 3 companies to women considered high-risk pregnancies Cost: Costs no more than $235 out-of-pocket expenses Turn-around time: ~10 days Advantages: will pick up trisomy 21, translocation, and high-level mosaicism; will also report extra genetic material from chromosomes 13 and 18

19 Prenatal Diagnosis of Down syndrome Prenatal Screening* Triple Screen: 69% (βhcg, AFP, ue 3 ) Quadruple Screen: 81% (βhcg, AFP, ue 3, inhibin-a) Prenatal Diagnosis Chorionic Villus Sampling: ~99.9% (10-14 weeks, 1% spont termin) Amniocentesis: ~99.9% (after 15 th week; 0.25% spont term) First-trimester Combined: 87% (Ultrasound, βhcg, PAPP- A) Integrative Screen: 96% Sequential Screen: 95% Independent Stepwise Contingent cffdna/rna Test: ~100% * NEJM (2005), 353:

20 Prenatal Diagnosis of Down syndrome Prenatal Screening* Triple Screen: 69% (βhcg, AFP, ue 3 ) Quadruple Screen: 81% (βhcg, AFP, ue 3, inhibin-a) First-trimester Combined: 87% (Ultrasound, βhcg, PAPP- A) Prenatal Diagnosis Chorionic Villus Sampling: ~99.9% (10-14 weeks, 1% spont termin) Amniocentesis: ~99.9% (after 15 th week; 0.25% spont term) cffdna/rna Test: ~100% Integrative Screen: 96% Sequential Screen: 95% Independent Stepwise Contingent * NEJM (2005), 353:

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23 Egan et al.

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25 Are expectant mothers making informed decisions? non-directive counseling accurate information up-to-date information balanced information

26 Education of Medical Professionals 81% of medical students report they are not getting any clinical training regarding individuals with Down syndrome 1 58% of medical school deans say such training not a high priority 1 45% of ACOG fellows and junior fellows rated their residency training as barely adequate or nonexistent. 2 Only 28% of ACOG fellows felt well qualified in prenatal genetic counseling Special Olympics. The health and health care of people with intellectual disabilities. 2. Cleary-Goldman, et al. Screening for Down syndrome: Practice patterns and knowledge of obstetricians and gynecologists. Obstet Gyncol 2006;107:11-17.

27 Prenatal Diagnosis Emphasize positive aspects so that parents will favor carrying to term without suggesting it directly Emphasize negative aspects so that parents will favor termination without suggesting it directly Urge parents to carry to term Try to be unbiased as possible Urge parents to terminate Genetic Professionals Physicians (N = 1,084) (N = 499) 2% 86% 13% 4% 10% 63% 13% 10% In Parens, E., & Asch, A. (2000). Prenatal Testing and Disability Rights. Washington, D.C.: Georgetown University Press, p. 277.

28 2,044 parents/guardians from 1,407 households (29% response) 99% love their son/daughter with Down syndrome 97% are proud of son/daughter with Down syndrome 79% felt outlook on life was more positive because of son/daughter 5% felt embarrassed, in general, by son/daughter with Down syndrome 4% regret having their son/daughter with Down syndrome

29 822 brothers/sisters, ages 9 62 (19% response) 97% ages 9-11, love their brother/sister with DS 94% ages >12, are proud of brothers/sister with Down syndrome 88% ages >12, felt they were better people because of sib 7% ages > 12, felt embarrassed, in general, by sib with Down syndrome 4% ages > 12, wish they could trade in sib with Down syndrome

30 284 people with Down syndrome, ages (17% response) 99% happy with their lives 99% said that they love their families 97% liked who they are 96% liked how they look 86% indicated they could make friends easily 4% expressed sadness about their life

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32 ACMG: American College of Medical Genetics ACOG: American College of Obstetricians & Gynecologists NSGC: National Society of Genetic Counselors NDSS: National Down Syndrome Society NDSC: National Down Syndrome Congress June 17, 2009

33 What Change is Needed? 1. Develop standardized practice guidelines on how to deliver prenatal diagnosis 2. Train healthcare professionals of today and tomorrow to deliver complete, consistent, nonjudgmental, noncoercive information. 3. Develop consistent, gold-standard information about prenatal testing for Down syndrome. 4. Public education about the lives and values of people with DS

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35 Prenatal Recommendations 1. Results of prenatal screening should be clearly explained as a risk assessment, not a positive or negative result. 2. Prior to CVS or amnio, discuss all reasons for prenatal diagnosis. 3. Healthcare professional(s) most knowledgeable about DS should deliver the news most likely OB and genetic professional together 4. If in-person visit not possible, news should be delivered over phone at pre-arranged time. 5. Answer: What is DS? What causes the condition? 6. Answer: What are realistic expectations for DS today? Offer connection with parent support groups. 7. Use non-directive language. 8. Offer up-to-date materials or bibliography. 9. Make follow-up appts, including specialists, as needed.

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38 What Change is Needed? 1. Develop standardized practice guidelines on how to deliver prenatal diagnosis 2. Train healthcare professionals of today and tomorrow to deliver complete, consistent, nonjudgmental, noncoercive information. 3. Develop consistent, gold-standard information about prenatal testing for Down syndrome. 4. Public education about the lives and values of people with DS

39 Training Modules Brighter Tomorrows is an interactive online simulation that asks medical professionals to view virtual patient-doctor sessions and provide responses to questions and situations Developed in collaboration between physicians and parents In tests with 30 residents in OB/GYN and Pediatrics showed significant improvement in knowledge and level of comfort Access to online simulation: Ferguson et al. Resident Physicians Competencies and Attitudes in Delivering a Postnatal Diagnosis of Down Syndrome. Obstet Gyncol 2006;108: Lunney et al. Effectively Training Pediatric Residents to Deliver Diagnoses of Down Syndrome. AJMG 2012.

40 Prenatally and Postnatally Diagnosed Condition Awareness Act Purpose: to ensure that more accurate, up-to-date information is given to mothers who have fetuses or children with Down syndrome October 8, 2008: President Bush signed into law (Public Law ) Funding Opportunities: Once funds are available, hospital and departments could apply for competitive grants State version of the law: Missouri and Virginia

41 What Change is Needed? 1. Develop standardized practice guidelines on how to deliver prenatal diagnosis 2. Train healthcare professionals of today and tomorrow to deliver complete, consistent, nonjudgmental, noncoercive information. 3. Develop consistent, gold-standard information about prenatal testing for Down syndrome. 4. Public education about the lives and values of people with DS

42 Gold-standard Prenatal Information lettercase.org

43 This booklet was prepared with assistance from the Down Syndrome Consensus Group which includes representatives of The National Society of Genetic Counselors The American College of Medical Genetics The American College of Obstetricians and Gynecologists The National Down Syndrome Society The National Down Syndrome Congress

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45 What Change is Needed? 1. Develop standardized practice guidelines on how to deliver prenatal diagnosis 2. Train healthcare professionals of today and tomorrow to deliver complete, consistent, nonjudgmental, noncoercive information. 3. Develop consistent, gold-standard information about prenatal testing for Down syndrome. 4. Public education about the lives and values of people with DS

46 Public Education

47 NDSS: My Great Story Campaign

48 NDSC: More Alike Than Different Campaign

49 Contact Information Web page: Facebook: facebook.com/brian.skotko Twitter: twitter.com/brianskotko YouTube: Hospital: Band of Angels Foundation

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