Presentation on theme: "THE VALUE OF FAMILY HISTORY IN THE PRENATAL CARE SETTING INSERT PRESENTATION DATE."— Presentation transcript:
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 Funded through grant # U33MC12786 from the Health Resources and Services Administration
Value of Family History Me SisterBrother MomDadMaternal Uncle Maternal Aunt Maternal Grandmother Maternal Grandfather Paternal Uncle Paternal Cousin Paternal Grandfather Paternal Grandmother My generation Parents’ generation Grandparents’ generation
Family History Inform diagnosis Build rapport with patients Build rapport with patients Guide management Guide management Value of Family History Promote risk assessment Promote risk assessment
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 ToolPrenatal Family History and Genetic Risk Assessment Tool ( www.nchpeg.org)
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
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
Red Flags Cystic Fibrosis European Ashkenazi Jewish Sickle Cell Disease African Asian Indian Middle East Mediterranean Beta-thalassemia Mediterranean Asian Middle Eastern Hispanic Caribbean Tay-Sachs Disease Ashkenazi Jewish French Canadian Cajun Pennsylvania Dutch Alpha-thalassemia SE Asian African Caribbean 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
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.
Case Study 1 - Anna Most Common Down Syndrome Fragile X Fetal Alcohol Syndrome (FAS) Less common Infections Birth defects (brain) Injuries Untreated metabolic disorders Other genetic conditions Known Causes* of Intellectual Disability (US) * The etiology of 75% of all ID cases is unknown. Info Sources: CDC & NLM
Case Study 1 - Anna Sporadic, typically no family history Advanced maternal age What “red flags” would you expect to see in the FmHx for… Down Syndrome Fragile X Maternal Alcohol Use FAS Multiple family members presenting w/ID X linked inheritance pattern Female Carriers Primary Ovarian Insufficiency Male Carriers Adult-onset tremors/ataxia Info Sources: Nat Institute Child Health & Dev., Nat Fragile X Foundation,
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.
Case Study 1 - Anna Anna’s Family Pedigree (Updated) POI - Primary Ovarian Insufficiency
Case Study 1- Anna Most common inherited cause of ID Repeat expansion in the FMR1 gene Recessive X-linked No cure, but therapy enhances functioning Fragile X Phenotypic Expression ID -Varies substantially Behavioral issues Speech/Lang problems Long face/ears, jaw Sensory Issues Boys more severely affected Males more severely impacted Photo Credit: Families and Fragile X Syndrome., NICHD Info Sources: NIH, Nat. ACOG
Case Study 1 - Anna 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 Symptoms of Pre-mutation Carriers
Case Study 1 - Anna 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 Symptoms of Full-mutation Carriers
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
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
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
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.”
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 Picture Credit: CDC Spina Bifida Sources: CDC, ACOG, Nat Institute for Neurological Disorders and Stroke
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.”
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)
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
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
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.
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.
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
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
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
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)
Case Study 3 - Keisha 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 Insurance ConsiderationsCultural Considerations So what is the next step? Carrier testing of Shawn -- CBC and Hemoglobin electrophoresis (Source: ACOG Bulletin #78)
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
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
Case Study 3 - Keisha PRENATAL DIAGNOSIS DECISION Keisha and Shawn opt to have an amniocentesis. PRENATAL DIAGNOSIS RESULTS The baby has sickle cell trait.
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)
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