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

Author:

Martin Kimberly1,Norton Mary E.2,MacPherson Cora3,Demko Zachary1ORCID,Egbert Melissa1,Haeri Sina4,Malone Fergal5,Wapner Ronald J.6,Roman Ashley S.7,Khalil Asma8ORCID,Faro Revital9,Madankumar Rajeevi10,Strong Noel11,Silver Robert12,Vohra Nidhi13,Hyett Jon14,Kao Charlly15,Hakonarson Hakon15,Jacobson Bo1617ORCID,Dar Pe'er18ORCID

Affiliation:

1. Natera Inc. Austin Texas USA

2. Department of Obstetrics, Gynecology and Reproductive Sciences University of California San Francisco San Francisco California USA

3. The Biostatistics Center George Washington University Washington District of Columbia USA

4. Ouma Health Park City Utah USA

5. Department of Obstetrics and Gynecology Rotunda Hospital Royal College of Surgeons in Ireland Dublin Ireland

6. Department of Obstetrics and Gynecology Columbia Presbyterian Medical Center New York New York USA

7. Department of Obstetrics and Gynecology New York University Langone New York New York USA

8. Department of Obstetrics and Gynecology St. George's Hospital University of London London UK

9. Department of Obstetrics and Gynecology St. Peter's University Hospital New Brunswick New Jersy USA

10. 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

11. Department of Obstetrics and Gynecology Icahn School of Medicine at Mount Sinai New York New York USA

12. Department of Obstetrics and Gynecology University of Utah Salt Lake City Utah USA

13. Department of Obstetrics and Gynecology North Shore University Hospital Donald and Barbara Zucker School of Medicine at Hofstra/Northwell Manhasset New York USA

14. Department of Obstetrics and Gynecology Royal Prince Alfred Hospital University of Sydney Camperdown New South Wales Australia

15. Center for Applied Genomics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

16. Department of Obstetrics and Gynecology Sahlgrenska Academy University of Gothenburg Gothenburg Sweden

17. Department of Obstetrics and Gynaecology Sahlgrenska University Hospital Gothenburg Sweden

18. Department of Obstetrics and Gynecology and Women's Health Montefiore Medical Center Albert Einstein College of Medicine Bronx New York USA

Abstract

AbstractObjectiveOne 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.MethodsThis 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.ResultsOf 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).ConclusionsHigh‐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.

Funder

Natera

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

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