Impact of high-risk prenatal screening results for 22q11.2 deletion syndrome on obstetric and neonatal management: Secondary analysis from the SMART study

Kimberly Martin, Natera Inc., Austin, Texas, USA.
Mary E. Norton, Department of Obstetrics, Gynecology and Reproductive Sciences, University of California San Francisco, San Francisco, California, USA.
Cora MacPherson, The Biostatistics Center, George Washington University, Washington, District of Columbia, USA.
Zachary Demko, Natera Inc., Austin, Texas, USA.
Melissa Egbert, Natera Inc., Austin, Texas, USA.
Sina Haeri, Ouma Health, Park City, Utah, USA.
Fergal Malone, Department of Obstetrics and Gynecology, Rotunda Hospital, Royal College of Surgeons in Ireland, Dublin, Ireland.
Ronald J. Wapner, Department of Obstetrics and Gynecology, Columbia Presbyterian Medical Center, New York, New York, USA.
Ashley S. Roman, Department of Obstetrics and Gynecology, New York University Langone, New York, New York, USA.
Asma Khalil, Department of Obstetrics and Gynecology, St. George's Hospital, University of London, London, UK.
Revital Faro, Department of Obstetrics and Gynecology, St. Peter's University Hospital, New Brunswick, New Jersy, USA.
Rajeevi Madankumar, Department of Obstetrics and Gynecology, Long Island Jewish Medical Center, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, New Hyde Park, New York, USA.
Noel Strong, Department of Obstetrics and Gynecology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Robert Silver, Department of Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah, USA.
Nidhi Vohra, Department of Obstetrics and Gynecology, North Shore University Hospital, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Manhasset, New York, USA.
Jon Hyett, Department of Obstetrics and Gynecology, Royal Prince Alfred Hospital, University of Sydney, Camperdown, New South Wales, Australia.
Charlly Kao, Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Hakon Hakonarson, Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Bo Jacobson, Department of Obstetrics and Gynecology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Pe'er Dar, Department of Obstetrics and Gynecology and Women's Health, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York, USA.

Document Type

Journal Article

Publication Date

12-1-2023

Journal

Prenatal diagnosis

Volume

43

Issue

13

DOI

10.1002/pd.6483

Abstract

OBJECTIVE: One goal of prenatal genetic screening is to optimize perinatal care and improve infant outcomes. We sought to determine whether high-risk cfDNA screening for 22q11.2 deletion syndrome (22q11.2DS) affected prenatal or neonatal management. METHODS: This was a secondary analysis from the SMART study. Patients with high-risk cfDNA results for 22q11.2DS were compared with the low-risk cohort for pregnancy characteristics and obstetrical management. To assess differences in neonatal care, we compared high-risk neonates without prenatal genetic confirmation with a 1:1 matched low-risk cohort. RESULTS: Of 18,020 eligible participants enrolled between 2015 and 2019, 38 (0.21%) were high-risk and 17,982 (99.79%) were low-risk for 22q11.2DS by cfDNA screening. High-risk participants had more prenatal diagnostic testing (55.3%; 21/38 vs. 2.0%; 352/17,982, p < 0.001) and fetal echocardiography (76.9%; 10/13 vs. 19.6%; 10/51, p < 0.001). High-risk newborns without prenatal diagnostic testing had higher rates of neonatal genetic testing (46.2%; 6/13 vs. 0%; 0/51, P < 0.001), echocardiography (30.8%; 4/13 vs. 4.0%; 2/50, p = 0.013), evaluation of calcium levels (46.2%; 6/13 vs. 4.1%; 2/49, P < 0.001) and lymphocyte count (53.8%; 7/13 vs. 15.7%; 8/51, p = 0.008). CONCLUSIONS: High-risk screening results for 22q11.2DS were associated with higher rates of prenatal and neonatal diagnostic genetic testing and other 22q11.2DS-specific evaluations. However, these interventions were not universally performed, and >50% of high-risk infants were discharged without genetic testing, representing possible missed opportunities to improve outcomes for affected individuals.

Department

Epidemiology

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