​​Sharing an abnormal prenatal screening result with a patient

Communicating an abnormal prenatal screening test result to a family can be difficult for both the clinician and the patient. That moment has been described as a flashbulb memory that a patient can remember in detail for a lifetime.

​Fortunately, there are best practice recommendations for discussing an abnormal prenatal screening result so that clinicians can frame that moment with sensitivity and compassion.

Provider recommendations: summary

• ​Use plain language and interpretation services when available.
  
• Use active listening and empathetic responses to offer support, be sensitive to parents’ beliefs and values, and use neutral language when delivering results.
• Be prepared emotionally to support parents who may experience grief, shock, or adjustment.
• Discuss the limitations of PNS early. Clearly explaining the differences between screening and diagnostic tests before screening will be helpful if there is an abnormal result on prenatal screening.
• Provide information about the prenatal screening results and share appropriate condition-specific booklets at the time of delivering abnormal results of prenatal screening. 

The California PNS Progra​m process

If you are reading this information, you may have or have had a patient with an abnormal prenatal screening result from the California PNS Program. Your n​​ext step is to deliver the result to the patient. 

You also offer follow-up services to eligible patients. These follow-up services include genetic counseling, an ultrasound exam, chorionic villus sampling (CVS), and amniocentesis at a state-approved Prenatal Diagnosis Center (PDC). 

The PDCs are independent perinatal clinics that are authorized to see referred patients with abnormal prenatal screening results. See the current list of state approved PDCs (PDF). Tell the patient that all follow-up services are voluntary, and that the cost is included in the initial PNS Program fee, which is covered by Medi-Cal and almost all California private insurance.

Best practices

It is important to remember that patients consider the moment they receive a prenatal screening result as part of their diagnosis journey. Research-based recommendations for how to communicate an abnormal prenatal screening results include the following:

Communicating an abnormal result

• Be sensitive about when and how you deliver an abnormal prenatal screening result
• Communicate unexpected news in a neutral, unbiased manner
• Practice active listening to the parents’​ reactions

Additional considerations

• Communicate the difference between an abnormal prenatal screening result and a diagnosis
• Clearly present follow-up service options, including diagnostic testing
• Provide educational materials, including the PNS Program screen-positive booklets

• Prenatal Screening Result and Down Syndrome (PDF, English … Spanish … Chinese Simplified)
• Prenatal Screening Result and Trisomy 18 (PDF, English … Spanish … Chinese Simplified)
• Prenatal Screening Result and Trisomy 13 (PDF, English … Spanish … Chinese Simplified)
• ​​​Prenatal Screening Result and Neural Tube Defects (PDF, English … Spanish  … Chinese Simplified)                                                                                                                                                                

Starting April 1, 2024, the CA PNS Program will add sex chromosome aneuploidies (SCAs) – also  referred to as X and Y chromosome variations – to the state cell-free DNA screening panel.​​​​

• Prenatal Screening Result and Turner syndrome (PDF, English)
• Prenatal Screening Result and Klinefelter syndrome (PDF, English)
• Prenatal Screening Result and Trisomy X (PDF, English)
• ​​​Preantal Screening Result and XYY (PDF, English)
  

• Offer contact information for support organizations

For more information, read the more detailed recommendations below.

1.      When and how to deliver abnormal prenatal screening results

• Be prompt. Personally deliver the results as soon as possible.
• Standardize. When possible, deliver the results in person or at a pre-established time by phone. Determine a standard way of handling all results. Tell patients about how results will be shared up front.
• Use plain language. Use commonly understandable terms and plain language.
• Use interpretation. Convey information in a patient’s native language when interpretation services are available.
• Share multilingual resources. The PNS Program condition-specific booklets are available in English, Spanish, and Simplified Chinese on the Education Resources for Individuals and Families web page. Order print versions or download them as needed.

2.      How best to deliver results without causing trauma

• Use active listening. Each condition detected with prenatal screening has different outcomes, and each expectant parent reacts differently based on their background and experience, life circumstances, and perceptions about parenting. Assess the emotional reactions of the expectant parents and validate these feelings. Use active listening and empathetic responses to offer support.
• Be sensitive. Providers should try to be aware of parents’ beliefs around life, considering when they believe life begins, and their attachment to the fetus, as well as religious or moral values and any prior experiences that might have affected their expectations of pregnancy or termination. Providers should try to pick up on cues in order to support parental decision-making and choice in a specific, client-centered manner.
• Use neutral language. If the condition detected does not pose an immediate risk of premature death, use neutral language.

  Neutral and ok to use​​	Not neutral; do not use
  ‘I have some unexpected news’	‘I’m sorry’
  ‘The results indicate...’	‘Unfortunately, I have some bad news.’

  It’s important not to assume that a patient will view a potential diagnosis as bad news. Provide accurate and current information about the genetic condition or birth defect. Offer contact information for local support organizations.
• Check bias. Providers supporting parents should enable discussion around individualized thoughts and beliefs during the discussion and any parental decision-making process. Providers should ensure that they do not anticipate responses based on the choices of other parents with similar demographics.
• Be prepared emotionally. Parents deciding to continue or terminate a pregnancy following diagnosis of fetal abnormality experience grief, shock, disbelief, isolation, anger, and adaptation or adjustment.

3.      How to communicate about screening results versus diagnosis

• Start early. Discussing the limitations of prenatal screening with all patients at their first prenatal visit will help with communication about screen-positive results later. Tell all patients that prenatal screening is a tool and is not diagnostic.
• Explain screening versus diagnostic testing. Clearly outline the differences between prenatal screening and diagnostic tests. It is the clinician’s job to help patients understand that screening tests, including cell-free DNA (cfDNA) screening and maternal serum alpha-fetoprotein (MSAFP) screening, estimate a patient’s risk for a genetic condition or birth defect. The screening tests are not diagnostic. For genetic disorders, only chorionic villus sampling and amniocentesis are considered diagnostic. For neural tube defects, ultrasound and amniocentesis are considered diagnostic.
• Provide information. If screening results indicate that the fetus likely has a condition, make sure expectant parents understand that the screening results are not conclusive. At the same time, it is best to share the appropriate condition-specific booklet at the time you share screen-positive results.

The majority of parents want condition-specific information right away. If they do not receive this information from their clinician, they will likely perform an online search on their own and may find information that is not accurate or applicable. Moreover, some of these parents will decline follow up services including diagnostic testing. Therefore, they will not receive any program information if your policy is to delay giving condition-specific information until after diagnostic confirmation.

Some information used with permission from “Delivering a Prenatal or Postnatal Diagnosis” by the Lettercase National Center for Prenatal and Postnatal Resources.

Resources for providers

If your patient receives a screening result suggesting a possible diagnosis, below are resources to support you as a clinician:

• Delivering a Prenatal or Postnatal Diagnosis bifold
• Recommendations to improve the patient experience and avoid bias when prenatal screening/testing in the Disability and Health Journal
• American College of Medical Genetics and Genomics Guidelines
  
• National Society of Genetic Counselor Guidelines (abstract)
• National Center for Prenatal and Postnatal Resources Training Center Modules free online education modules about how to discuss disability and deliver a diagnosis
• Office of the California Surgeon General: Abortion
• ​​AAP Preventive Care/Periodicity Schedule (aap.org)  
• ​eXtraordinarY Kids Program – University of Colorado, School of Medicine, Department of Pediatrics
  
• The eXtraordinarY Kids Clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidy - PMC (nih.gov)​
  
• ​Turner Syndrome Resources for Doctors and Professionals
• Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome
• Expanding the phenotype of Triple X syndrome
• 47,XYY syndrome: clinical phenotype and timing of ascertainment​

Condition-specific resources for clinicians

American Academy of Pediatrics (AAP) Guidelines for Different Conditions: AAP produces guidelines for a number of different conditions that can be diagnosed prenatally, and these guidelines often provide a comprehensive overview of medical and psychosocial outcomes for different conditions, national advocacy organizations, and recommended resources. Examples:

• Trisomy 21 (Down Syndrome)
• Trisomy 18
• Trisomy 13
• Spina bifida
  

Condition-specific resources for patients

• ​​Getting an ​unexpected prenatal screening result web page for patients​​

• PNS Program screen-positive booklets

• Prenatal Screening Result and Down Syndrome (PDF, English … Spanish … Chinese Simplified)
• Prenatal Screening Result and Trisomy 18 (PDF, English … Spanish … Chinese Simplified)
• Prenatal Screening Result and Trisomy 13 (PDF, English … Spanish … Chinese Simplified)
• Prenatal Screening Result and Neural Tube Defects (PDF, English … Spanish  … Chinese Simplified)

• ​Lettercase National Center for Prenatal and Postnatal Resources: This website provides a library of resources for patients receiving a prenatal diagnosis with all materials reviewed by representatives of the national medical, genetics, and advocacy organizations.
• HealthyChildren.org by AAP: This AAP Parenting provides information about different conditions for patients in understandable language.

​References

• May CP, Dein A, Ford J. New insights into the formation and duration of flashbulb memories: Evidence from medical diagnosis memories. Appl Cogn Psychol. 2020;34(5):1154-1165. doi:10.1002/acp.3704
• Skotko BG, Kishnani PS, Capone GT, for the Down Syndrome Diagnosis Study Group. Prenatal diagnosis of Down syndrome: How best to deliver the news. Am J Med Genet A. 2009;149A (11):2361-2367. doi:10.1002/ajmg.a.33082
• Sheets KB, Best RG, Brasington CK, Will MC. Balanced information about Down syndrome: What is essential? Am J Med Genet A. 2011;155(6):1246-1257. doi:10.1002/ajmg.a.34018
•  Carlsson T, Starke V, Mattsson E. The emotional process from diagnosis to birth following a prenatal diagnosis of fetal abnormality: a qualitative study of messages in online discussion boards. Midwifery. 2017;1(48):53–9.
•  Quine L, Pahl J. First diagnosis of severe mental handicap: characteristics of unsatisfactory encounters between doctors and parents​. Soc Sci Med. 1986; 22:53–62.
  
• Lotto R, Armstrong N, Smith LK. Care provision during termination of pregnancy following diagnosis of a severe congenital anomaly – a qualitative study of what is important to parents. Midwifery. 2016; 43:14–20. 
• Gregg AR, Skotko BG, Benkendorf JL, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016;18(10):1056-1065. doi:10.1038/gim.2016.97
• Sheets KB, Crissman BG, Feist CD, et al. Practice Guidelines for Communicating a Prenatal or Postnatal Diagnosis of Down Syndrome: Recommendations of the National Society of Genetic Counselors. J Genet Couns. 2011;20(5):432-441. doi:10.1007/s10897-011-9375-8​​​