1 / 46

The Value of Family History in the Prenatal Care Setting

The Value of Family History in the Prenatal Care Setting. INSERT PRESENTATION DATE. Agenda. Value of family history ( FmHx ) FmHx collection tools “Red flags” Risk assessment and management guidelines Case studies. Acknowledgements. Curriculum reviewers.

mahogany-spence
Télécharger la présentation

The Value of Family History in the Prenatal Care Setting

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. The Value of Family History in the Prenatal Care Setting INSERT PRESENTATION DATE

  2. Agenda • Value of family history (FmHx) • FmHx collection tools • “Red flags” • Risk assessment and management guidelines • Case studies

  3. Acknowledgements Curriculum reviewers Funded through grant # U33MC12786 from the Health Resources and Services Administration

  4. Value of Family History Grandparents’ generation Paternal Grandfather Paternal Grandmother Maternal Grandfather Maternal Grandmother Parents’ generation Paternal Uncle Dad Mom Maternal Uncle Maternal Aunt My generation Paternal Cousin Sister Brother Me

  5. Value of Family History Guide management Inform diagnosis Family History Promote risk assessment Build rapport with patients

  6. Family History Collection Tools

  7. Family History Collection Tools • Generate red-flags, risk assessments, a report & follow-up letter for the provider • Provide decision-support algorithms • Address cultural sensitivity and ethical issues • Promote patient and provider education • Be compatible with electronic health records • Publically available end of 2012 Prenatal Family History and Genetic Risk Assessment Tool(www.nchpeg.org)

  8. Red Flags 1. Family history of known or suspected genetic condition 2. Multiple affected family members with same or related disorders 3. Earlier age at onset of disease than expected 4. Intellectual disability 5. Diagnosis in less-often-affected sex 6. Multifocal or bilateral occurrence in paired organs

  9. Red Flags 7. One or more major malformations 8. Disease in the absence of risk factors or after preventive measures 9. Abnormalities in growth (growth retardation, asymmetric growth, excessive growth 10. Recurrent pregnancy losses (2+) 11. Consanguinity (blood relationship of parents) 12. Ethnic predisposition to certain genetic disorders

  10. Red Flags Cystic Fibrosis European Ashkenazi Jewish Tay-Sachs Disease Ashkenazi Jewish French Canadian Cajun Pennsylvania Dutch Sickle Cell Disease African Asian Indian Middle East Mediterranean Tay-Sachs Disease Canavan Disease Cystic Fibrosis Familial Dysautonomia Mucolipidosis IV Niemann-Pick Disease (Type A) Fanconi Anemia Group C Bloom Syndrome Gaucher disease Ashkenazi Jewish Alpha-thalassemia SE Asian African Caribbean Beta-thalassemia Mediterranean Asian Middle Eastern Hispanic Caribbean

  11. Risk Assessment & Mgt Guidelines

  12. Risk Assessment & Mgt Guidelines

  13. CASE STUDY ONE

  14. Case Study 1 -- Anna Anna is a healthy 30 year old who presents to your office for her first prenatal care visit. She is 10 weeks pregnant. In inquiring about her family health history, she reveals that her brother (Harold) possesses an intellectual disability (ID)*. *Formerly known as mental retardation or cognitive disability.

  15. Case Study 1 - Anna Anna’s Family Pedigree

  16. Case Study 1 - Anna Known Causes* of Intellectual Disability (US) * The etiology of 75% of all ID cases is unknown. Most Common • Down Syndrome • Fragile X • Fetal Alcohol Syndrome (FAS) Less common • Infections • Birth defects (brain) • Injuries • Untreated metabolic disorders • Other genetic conditions Info Sources: CDC & NLM

  17. Case Study 1 - Anna What “red flags” would you expect to see in the FmHx for… Down Syndrome Fragile X FAS • Sporadic, typically no family history • Advanced maternal age • Multiple family members presenting w/ID • X linked inheritance pattern • Female Carriers • Primary Ovarian Insufficiency • Male Carriers • Adult-onset tremors/ataxia • Maternal Alcohol Use Info Sources: Nat Institute Child Health & Dev., Nat Fragile X Foundation,

  18. Case Study 1- Anna In talking to Anna further you discover: • In addition to Harold (26 yrs), Anna also has a younger sister Margarite (22 years). • Anna’s mother (Sarah) had all three children by age 26. • Sarah stopped having her period at age 32. • Sarah does not consume alcohol.

  19. Case Study 1 - Anna Anna’s Family Pedigree (Updated) POI - Primary Ovarian Insufficiency

  20. Case Study 1- Anna Fragile X • Most common inherited cause of ID • Repeat expansion in the FMR1 gene • Recessive X-linked • No cure, but therapy enhances functioning • Phenotypic Expression • ID -Varies substantially • Behavioral issues • Speech/Lang problems • Long face/ears, jaw • Sensory Issues • Boys more severely affected • Males more severely impacted Info Sources: NIH, Nat. ACOG Photo Credit: Families and Fragile X Syndrome., NICHD

  21. Case Study 1 - Anna Symptoms of Pre-mutation Carriers Female • POI (20-22%) • Typically cognitive functioning is normal • Late onset Fragile X tremors/ataxia (but more often in males) Male • Typically cognitive functioning is normal • Late onset Fragile X Tremors/Ataxia Info Source: ACMG, Nat. Fragile X Foundation

  22. Case Study 1 - Anna Symptoms of Full-mutation Carriers Female • No fertility issues • May have Frag. X physical features • Most have normal cognitive functioning • More affected by depression, anxiety Male • Display Fragile X symptoms Info Source: Nat. Fragile X Foundation

  23. Case Study 1- Anna • What are the next steps? • Offer genetic testing for FMR-1 for Anna and Harold (ACOG Committee on Genetics Opinion #469) • Referral to genetic counseling (ACOG Committee on Genetics Opinion #469) • Assess Anna’s anxiety level

  24. Case Study 1 - Anna Anna and Harold’s test results are back… • Harold tests positive for Fragile X • Anna is a full-mutation Fragile X carrier • An ultrasound reveals that Anna is carrying a girl

  25. Case Study 1 - Anna So what are the future implications… • Anna – as a full mutation carrier • Most likely will not face infertility issues • May experience cognitive functioning decline • More likely to be affected by anxiety/depression • Anna’s daughter • Early & regular developmental assessment • Future pregnancies • Female - 50% risk for being full mutation Fragile X carrier • Male - 50% risk for being affected by Fragile X • Discussion of reproductive options • Anna’s sister Margarite • Suggest Anna speak w/Margarite about test results

  26. CASE STUDY TWO

  27. Case Study 2 -- Soledad Soledad and her husband Robert, an American soldier, present to your office for a preconceptional care visit. Soledad and Robert are both 28 years old. Soledad grew up in Mexico and she and Robert moved to the community about 6 months ago due to Robert’s assignment to the local military base. Soledad's primary language is Spanish and she requires translation, which is provided by Robert, during the visit. The couple is thinking about trying to conceive again, however they are apprehensive since three years ago they lost their first baby due to complications associated with an “opening in her spine.”

  28. Case Study 2 – Soledad • Most common Neural Tube Defect • NT forms 28 days after conception • Tube fails to close around the spine • 1500 US babies affected per year • Symptoms/complications vary • No/Minor physical problems to severe physical and intellectual disabilities • Treatment may include: • Surgery • Physiotherapy • Assistive equipment Spina Bifida Picture Credit: CDC Sources: CDC, ACOG , Nat Institute for Neurological Disorders and Stroke

  29. Case Study 2 - Soledad • Complex condition influenced by environment & genes • Insufficient maternal folic acid intake • Insufficient maternal folic acid metabolism • Uncontrolled maternal diabetes • Maternal obesity • Excessive maternal alcohol use • High maternal core body temperature • Accutane use • Chromosomal disorders, particularly Trisomy13 & 18 • Higher risk populations • 4% risk if 1 previous NTD birth OR if parent has an NTD • 10% risk if 2 previous NTD births • Hispanics and Caucasians Source: ACOG, MA Batshaw: “Children with Disabilities.”

  30. Case Study 2 - Soledad With Respect to Soledad and Robert’s family health history, what “Red Flags” do you see? • Previous affected child • Ethnic predisposition (Hispanic ethnicity)

  31. Case Study 2- Soledad What are the next steps? • High dose (4 mg) folic acid (ACOG Bulletin #44) • Nutrition counseling (healthy balanced diet), consider nutritionist referral • Genetic counseling referral • Obtain records for previous baby • Cultural Competency aspects • Connect Soledad with bilingual staff person in your office and/or an available interpreter service • Assess patient preferences for bilingual provider or interpreter services for nutrition & genetic counseling visits

  32. Case Study 2 - Soledad So what are the future implications… • Risk for future pregnancy • Next pregnancy: 4% risk of having a second child with NTD • If she has another affected baby, risk increases to 10% • Critical prevention steps • Folate-enriched diet • Periconceptional folic acid supplementation (4 mg) • Prenatal screening & diagnostic testing • Maternal serum alpha-fetoprotein test • Anatomic ultrasound • Possibly amniocentesis Source: ACOG

  33. CASE STUDY THREE

  34. Case Study 3 - Keisha Keisha is a 34 years old African-American woman who presents to your office for prenatal care. She is accompanied by her husband Shawn, who is also 34 years old and African-American. Keisha is 10 weeks pregnant. This pregnancy was unplanned. This is the couple’s first child, however Keisha has a son, Eric (5 yrs), from a previous marriage.

  35. Case Study 3- Keisha Keisha painstakingly relates the story of receiving a call from Eric’s doctor that his heel stick test screened positive for sickle cell disease. Follow up testing confirmed that Eric had sickle cell disease. Keisha recounts her shock and dismay surrounding Eric’s diagnosis as she thought the disease had been cured. The family has endured many social, emotional, and financial hardships since Eric’s diagnosis. Keisha also describes feeling helpless during Eric’s frequent pain crises.

  36. Case Study 3 - Keisha Sickle Cell Disease • Mutation in the hemoglobin-Beta gene causes red blood cells to take on a sickle shape due to a decrease in oxygen • Effects 70,000-100,000 individuals in the US • Frequent Complications/Symptoms • Sickle cells “clog” blood vessels which can lead to pain, organ damage, & increased susceptibility to infection • Anemia due to shortened lifespan of red blood cells that have sickled • Phenotypic expression varies Source: Nat. Heart, Lung, Blood Institute & Nat. Human Genome Research Institute

  37. Case Study 3 - Keisha Sickle Cell Disease (Cont) • Limited success with blood & marrow stem cell transplants • Treatment to relieve symptoms/complications • Pain mgt • Blood transfusions • Prophylactic antibiotics (2 months-5 yrs) • Vaccinations for flu/pneumococcus/hepatitis/meningitis • Routine eye check ups by an ophthalmologist • Head ultrasounds to detect stroke risk (children) Source: Nat. Heart, Lung, & Blood Institute

  38. Case Study 3 - Keisha Sickle Cell Disease (Cont) • Autosomal recessive inheritance • Included in all state newborn screening panels • Sickle Cell Trait • Carrier for sickle cell disease • Generally no phenotypic expression • Can combine w/other traits & cause other sickling disorders • > 2 million Americans have sickle cell trait • About 1 in 12 African Americans • About 1 in a 100 Hispanic-Americans Source: Nat. Heart, Lung, Blood Institute ; Nat Human Genome Research Institute; SACHDNC

  39. Case Study 3 - Keisha What red flags do you see in Keisha’s family history? • Family history of sickle cell disease • Keisha has sickle cell trait • Eric has sickle cell disease • High Risk Ethnicity (African-American)

  40. Case Study 3 - Keisha So what is the next step? Carrier testing of Shawn -- CBC and Hemoglobin electrophoresis (Source: ACOG Bulletin #78) Insurance Considerations Cultural Considerations • Coverage of carrier testing for asymptomatic • Lack of insurance • Fear of losing insurance or job if test confirms sickle cell trait • Genetic Information Nondiscrimination Act (GINA) prevents this • GINA clinician resources http://www.nchpeg.org • Concern about racial discrimination • Distrust of medical care & research systems

  41. Case Study 3 - Keisha THE DECISION Keisha and Shawn discuss and decide to have Shawn tested. TEST RESULTS • Shawn tests positive for sickle cell trait. • As such, Keisha and Shawn’s baby has: • 25% chance of receiving two “normal” genes • 50% chance of having sickle cell trait • 25% chance of having sickle cell disease

  42. Case Study 3 - Keisha So what is the next step? • Describe options for prenatal diagnosis • No prenatal diagnosis • Chorionic Villus Sampling (10-12 weeks gestation) • Amniocentesis (after 15 weeks gestation) • Referral to genetic counseling Source: ACOG Practice Bulletin #78

  43. Case Study 3 - Keisha PRENATAL DIAGNOSIS DECISION Keisha and Shawn opt to have an amniocentesis. PRENATAL DIAGNOSIS RESULTS The baby has sickle cell trait.

  44. Case Study 3 - Keisha Future Implications • Current pregnancy • Newborn screening education (ACOG Cmt Opinion #481) • The child • Genetic counseling to address implications of sickle cell trait • Future pregnancies • SCA risk is the same for each pregnancy • 25% “normal”, 50% sickle cell trait, and 25% sickle cell disease • Genetic counseling about reproductive options (ACOG Practice Bulletin #78) • If Keisha or Shawn have a different partner, then the partner should be offered the opportunity to be screened for sickle cell trait (ACOG, Practice Bulletin #78)

  45. Within your practice… What opportunities exist to support the use of Family Health History (FmHx)? • Overcoming the “time” issue • Building skills in collecting and analyzing FmHx • Keeping FmHx easily available & current • Using FmHx to develop risk assessment & care plans • Linking w/local genetic professionals • Reimbursement for FmHx

  46. THANK YOU!

More Related