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30. Long-term Outcomes of Staged Complete Repair of Pulmonary Atresia With Ventricular Septal Defect

Author

Samuel J. Macalister, Edward Buratto, Phillip S. Naimo, Xin Tao Ye, Nicholas Fulkoski, Robert G. Weintraub, Christian P. Brizard, and Igor E. Konstantinov

Subjects
Pulmonary and Respiratory Medicine, Surgery, Cardiology and Cardiovascular Medicine
Abstract

The optimal strategy for pulmonary atresia with ventricular septal defect (PA/VSD) without major aortopulmonary collateral arteries (MAPCAs) is yet to be defined. It remains unclear how primary complete repair compares with staged repair.We reviewed the records of 107 patients with PA/VSD managed with systemic-to-pulmonary shunts from February 1989 to November 2019. Tables presenting summary statistics of patient and surgical data and Kaplan-Meier curves presenting repair, mortality and reoperation were created. Logistic regression analysis was performed to identify risk factors for repair, morbidity and mortality.Ninety-one (85%) patients achieved complete repair at a median age of 1 year (interquartile range [IQR] 8-20 months). Survival was 97 (90%) patients at 6 months, 91 (85%) at 20 months and 87 (81%) at 10 years. Shunt diameter of 3.5 mm or less (p = 0.006) and shunt after 2009 (p0.001) were associated with earlier progression to complete repair. Shunt diameter of 3.5 mm or less was an independent risk factor for interstage morbidity (hazard ratio 4.5 [IQR 1.1-18.5], p = 0.039), but was not associated with complete repair (p = 0.75) or mortality (p = 0.62). The median follow-up period was 10.5 years (IQR 3.6-18.8 years) from birth.The complete repair and long-term survival rates of staged PA/VSD repair are high. The use of smaller shunts has resulted in earlier complete repair and is associated with increased risk of morbidity but not mortality.

Published
2023

44. Gonadotropin receptor polymorphisms (FSHR N680S and LHCGR N312S) are not predictive of clinical outcome and live birth in assisted reproductive technology

Author

Paul Pirtea, Dominique de Ziegler, Diego Marin, Li Sun, Xin Tao, Jean Marc Ayoubi, Jason Franasiak, and Richard T. Scott

Subjects
Menotropins, Reproductive Techniques, Assisted, Obstetrics and Gynecology, Luteinizing Hormone, Receptors, LH, Aneuploidy, Chorionic Gonadotropin, Polymorphism, Single Nucleotide, Reproductive Medicine, Pregnancy, Serine, Humans, Receptors, FSH, Female, Asparagine, Follicle Stimulating Hormone, Live Birth, Retrospective Studies
Abstract

To study the consequences of specific genotype profiles of follicle-stimulating hormone receptor (FSHR) and luteinizing hormone choriogonadotropin receptor (LHCGR) on assisted reproductive technology outcomes when preimplantation genetic testing for aneuploidy is used for controlling the embryo ploidy status. The most common reported single-nucleotide polymorphisms in the amino acid position for the FSHR (N680S; N: asparagine, S: serine; [rs6166]) and the LHCGR (N312S variant; N: asparagine, S: serine [rs2293275]) were chosen for this study.Retrospective cohort study.Private Fertility Clinic.All women aged 18-40 years undergoing their first assisted reproductive technology cycle with aneuploidy screening between 2006 and 2017 with body mass index of18 and40 kg/mAll patients received both recombinant follicle-stimulating hormone and human menopausal gonadotropin or low dose human chorionic gonadotropin. Genomic DNA was isolated from patients' blood. Genotyping of the FSHR and LHCGR polymorphisms was performed using TaqMan genotyping assays. Associations between both receptor genotypes and clinical outcomes were assessed using generalized regression and ANOVA.Live birth rate was the primary outcome. Secondary outcomes included oocyte yield, mature oocytes, blastulation rate, usable blastocyst rate, and implantation rate.A total of 1,183 patients met the inclusion criteria and generated reliable genotype results. The overall genotype frequencies in the study population for the FSHR gene were as follows: 21.7% homozygous for S in codon 680, 29.2% homozygous for N680, and 48.1% heterozygous (N680S). As for the LHCGR, 15.6% were homozygous for N312, 38.5% homozygous for S312 and 45.9% heterozygous (N312S). Our study population consisted of 53.8% non-Hispanic white; 6.1% Hispanic white; 4.1% Afro-American; 15.4% Asian; and 20.6% other or unknown. No significant association was found with any of the studied variables (oocyte yield, usable blastocyst rate, implantation rate, live birth) when genotypes were analyzed per receptor or in combination with one another. There was a statistically significant but clinically irrelevant difference in the rate of mature oocytes across different variant combinations.Our findings suggest that the presence of gonadotropin receptor polymorphisms in both FSHR N680S and LHCGR N312S are not associated with assisted reproductive technology outcomes; therefore, these variants should not be considered reproductive predictors.

Published
2022

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