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Perinatal transfer of genetic information: developing an algorithm for reporting cystic fibrosis prenatal test
Ellen S Regalado1, Elinor Langfelder-Schwind, Andrew D Corwin
1Sarah Lawrence College, Bronxville, New York, USA.
Insights
Statewide reporting of cystic fibrosis prenatal screening results to newborn screening programs is feasible. Standardized documentation of cystic fibrosis screening and testing on maternal prenatal records is essential for successful data transfer.
Area of Science:
- Medical Genetics
- Public Health
- Neonatal Screening
Background:
- Cystic Fibrosis (CF) screening is crucial for early diagnosis and intervention.
- Integrating prenatal CF testing data into newborn screening programs presents logistical challenges.
- Current newborn screening protocols are primarily focused on conditions diagnosed postnatally.
Purpose of the Study:
- To assess the feasibility of statewide reporting of fetal diagnostic testing for cystic fibrosis (CF) to newborn screening programs.
- To evaluate the effectiveness of using birth hospitals as the point of data transfer.
- To adapt existing reporting systems, such as those for human immunodeficiency virus (HIV) testing, for CF data.
Main Methods:
- A survey of 100 patient medical records at St. Vincent's Hospital Manhattan examined CF carrier screening trends.
- The hospital's HIV testing reporting protocol was analyzed and adapted for CF data.
- Hospital staff provided feedback on data transcription and the transfer of prenatal CF information.
Main Results:
- Among 98 patients with available prenatal records, 62% underwent CF carrier screening, 14% declined, and 24% lacked documentation.
- Hospital staff found data transcription manageable but noted that missing information frequently delays and complicates data transfer.
- Incomplete documentation of screening history poses a significant barrier to accurate reporting.
Conclusions:
- Perinatal information transfer for cystic fibrosis prenatal testing, modeled on HIV reporting systems, is achievable.
- Standardized reporting of CF screening and testing history on maternal prenatal records is necessary for successful implementation.
- Improved documentation practices among prenatal care providers are critical for accurate and timely data submission to newborn screening programs.
Purpose:
This study explored the feasibility of statewide reporting of cystic fibrosis fetal diagnostic testing results to the newborn screening program through the birth hospital.
Methods:
We evaluated trends in offering and documenting cystic fibrosis carrier screening among prenatal care providers through a survey of 100 medical records of patients who gave birth at St. Vincent's Hospital Manhattan. The hospital's protocol for reporting human immunodeficiency virus testing history to the state program was delineated and adapted in developing an algorithm for cystic fibrosis. Feedback from hospital staff with regard to data transcription and the prospect of transferring cystic fibrosis prenatal information was obtained.
Results:
Of 98 patients who had prenatal records made available to the birth hospital, 62% had cystic fibrosis carrier screening, 14% declined screening, and 24% had no documentation of their screening history. The hospital staff viewed the transcription of information as relatively simple; however, missing information is a common occurrence that delays the process and results in incomplete data transfer.
Conclusions:
Perinatal transfer of cystic fibrosis prenatal information modeled on the system used for reporting human immunodeficiency virus testing history is feasible. However, it will require standardized reporting of cystic fibrosis screening and testing history on the mother's prenatal records among prenatal care providers.
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