AB0002 CONGENITAL DEFECTS IN A COHORT OF PREGNANT WOMEN FROM A CLINIC OF RHEUMATIC DISEASES AND PREGNANCY
Authors: C. M. Skinner Taylor, G. A. López-Uriarte, L. Pérez Barbosa, E. Barriga-Maldonado, I. Perez-Onofre, A. Elizondo-Plazas, D. Á. Galarza-Delgado
Journal: Annals of the Rheumatic Diseases (2020)

Background: Some studies have suggested an increased risk of adverse health outcomes for the child of patients with Rheumatic Diseases (RD), including neurodevelopmental disorders, congenital heart defects, hematological malignancies and autoimmune diseases. It is well known that 2 to 3% of live births have a congenital defect. About 7 % of all newborn deaths are due to birth defects. Objectives: Describe Genetical Evaluation in a cohort of pregnant patients with RD Methods: We included 22 women from February to December 2019 from a Clinic of Pregnancy and Rheumatic Diseases in Hospital Universitario in Monterrey, Mexico. All spontaneous pregnancies (21 singletons, 1 double twin), with adequate prenatal control. Ten Rheumatoid Arthritis, Antiphospholipid Syndrome in 4 cases; 5 Systemic Lupus Erythematosus, 2 Sjögren’s Syndrome and a case of Dermatomyositis. In the perinatal genetics approach, medical and familial history was obtained, and pedigree was developed; ultrasound information of 12 and 22 weeks of gestation was integrated, risks for aneuploidies were adjusted according to maternal age. At birth, the dysmorphological description was made, somatometry is performed, and the newborn screening were evaluated (metabolic, hearing, cardiac). Thus, giving genetic counseling for each case. Results: Two patients were excluded, so 20 women with follow-up, 12 (60%) were born without complications or birth defects; in 3(15%) there were adverse events (a spontaneous abortion at 12 weeks-of-gestation [wg]; a fetal death in the case of twin pregnancy, at 34.1 wg, with facial asymmetry, intrauterine growth restriction; and a premature delivery, at 36.5 wg; no defects; there were 5(25%) congenital defects: a preauricular appendix, with normal renal ultrasound. A congenital heart disease (transposition of large vessels, tricuspid stenosis). A case of macrosomia (diabetic fetopathy); a heart block with perinatal pacemaker placement (mom with lupus). And in the latter case, Krabbe disease, even without confirming it. Table 1. Table 1. Maternal diagnosis Effects on fetus/neonate N (%) Congenital Defects 5 (25%) Antiphospholipid syndrome Congenital Heart Disease Lupus erythematosus systemic Heart Block with Perinatal Pacemaker Placement Rheumatoid arthritis Krabbe Disease Rheumatoid arthritis Preauricular appendix Sjögren Disease Diabetic Fetopathy Adverse events 3 (15%) Rheumatoid arthritis Spontaneous Abortion Antiphospholipid syndrome Fetal death Rheumatoid arthritis Premature delivery Conclusion: One out of every 4 pregnancies of women with rheumatic diseases presented a congenital defect, of which, the heart diseases (CHD) have been described as of greater presentation in these groups. It is very important that women with rheumatic diseases are well attached to a comprehensive clinic in which, in addition to receiving proper attention of their rheumatic disease, they have adequate preconception and prenatal control of their pregnancies, since there is a greater risk of congenital alterations and of perinatal adverse events, as shown by this cohort. Further research is needed to fully elucidate the potential disease-related factors that might lead to the increased risk of adverse health outcomes in offspring, as well as to improve the monitoring and control of their rheumatic diseases. References: [1]Soh, MC; Nelson-Piercy, C. (2015). Highrisk Pregnancy and the Rheumatologist. Rheumatology, 54 (4):572587. [2]Sanchez-Manubens, J. et al. (2013). Recién nacidos de madre con enfermedad autoinmunitaria. Experiencia en un hospital comarcal. Reumatol Clin . 9(3):161–165. 2012.08.002. [3]Vinet, E., Bernatsky, S. (2017). Outcomes in Children Born to Women with Rheumatic Diseases. Rheum Dis Clin N Am. Disclosure of Interests: None declared