Advances in Prenatal Genetic Counseling

Published on in In Utero Insights

By Erica Schindewolf, MS, LCGC, Genetic Counselor

“Why did this happen?” and “Will this happen again?” are questions often asked in genetic counseling sessions and ones that we take very seriously in the Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment (CFDT). Our center has five full-time genetic counselors dedicated only to fetal patients, making us one of the most robust teams in a fetal center in the nation.

In order to answer patient questions such as these, our genetic counselors meet with every patient on the first day of their evaluation. The session includes medical, pregnancy and family history risk assessment and psychosocial counseling. We also provide information on the indication they are being evaluated for in patient-friendly language.

Genetic counselors are masters-trained, licensed and certif ied clinicians skilled in genetics and psychosocial counseling.

As diagnostic genetic testing is standard of care for any fetus with a structural anomaly, each patient receives an individualized conversation about benefits, risks and limitations of what genetic testing is available for their family. Our genetic counselors follow the family regardless of whether they continue care at CHOP to facilitate appropriate genetic testing and evaluations for each family.

Prior to meeting with each patient, our team ensures that patients have insurance coverage for the procedure and all genetic testing they may need, so patients can feel confi dent that they will not be surprised with a bill. Additionally, because of our expertise with fetal anomalies, our counselors have been able to partner with labs across the country to ensure the most comprehensive testing is available for our patients in the prenatal setting.

Harnessing technology to fuel discovery

The level of prenatal genetic testing we off er patients has evolved greatly thanks to improvements in technology. More than 250 whole exomes and over 20 whole genomes have been ordered by our team since 2015. We have a 40% diagnostic rate in our testing, compared to an 8.5% to 10% rate published by recent metanalysis of other providers utilizing exome in the prenatal patient population (Mellis et al, 2022).

We By the Numbers More than 30,000patients served16,986genetic tests sent 87national and international talks given31papers published7novel genes unveiled 5full-time genetic counselors Genetic counseling since the CFDT opened in 1995.attribute this difference to the dedication of our team. Our expertise in imaging allows deeper phenotyping. Our continuity of care with neonatology and clinical genetics — and, for postmortem cases, our facilitation of autopsy — enriches the bioinformatics which leads to an increase of diagnostic results. Many of our successful cases are the result of deep collaboration with families to ensure facilitation of testing, obtaining samples, and advocating for an answer.

To illustrate this advocacy, in cases where candidate genes are discovered, our team has been able to partner with researchers to do functional studies to prove or disprove the finding. This has led to the discovery of seven novel genotype phenotype correlations, 30 papers and more than 85 national talks. But, most importantly, these findings have allowed patients to use this information for future pregnancies.

Our team strongly believes that once someone is our patient, they are always our patient. In this mindset, we help patients navigate their next pregnancy, whether that be establishing psychosocial resources, facilitating the process of pre-implantation genetic diagnosis, and/or fi rst and second trimester diagnostic testing.

Providing the answers to families’ questions and helping empower them for the future is the greatest gift, and our genetic counselors are honored to be a piece of the puzzle.

Contributed by: Erica Schindewolf, MS, LCGC

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