Abstract

PurposeTo report the rate of fetal anomalies detected on anatomy ultrasound in pregnant patients who underwent IVF with preimplantation genetic testing for aneuploidy (PGT-A) compared to patients who conceived following IVF with unscreened embryos and age-matched patients with natural conceptions.MethodsRetrospective cohort study at a single maternal-fetal medicine practice. Patients with singleton pregnancies who had a mid-trimester anatomy ultrasound between January 2017 and December 2018 were screened for inclusion. A total of 712 patients who conceived after IVF with or without PGT-A were age-matched with natural conception controls. The primary outcome was the rate of fetal and placental anomalies detected on mid-trimester anatomical survey. Secondary outcomes included the rates of abnormal nuchal translucency (NT), second trimester serum analytes, non-invasive prenatal testing (NIPT), and invasive diagnostic testing.Result(s)There were no differences in the rate of fetal anomalies in patients who underwent IVF with PGT-A compared to patients who conceived following IVF with unscreened embryos and age-matched patients with natural conceptions. Rate of abnormal NT, high-risk NIPT, and abnormal invasive diagnostic testing were also similar. Patients who conceived after IVF with or without PGT-A had higher rates of abnormal placental ultrasound findings and abnormal second trimester serum analytes compared to natural conception controls.ConclusionThe use of PGT-A was not associated with a difference in risk of fetal anomaly detection on a mid-trimester anatomical survey. The results of this study highlight the importance of improved patient counseling regarding the limitations of PGT-A, and of providing standard prenatal care for pregnancies conceived through ART, regardless of whether PGT-A was performed.

Highlights

  • Preimplantation genetic testing for aneuploidy (PGT-A) has been increasingly adopted by in vitro fertilization (IVF) clinics across the USA, with reported use in over 40% of autologous IVF cycles in 2018 [1]

  • Compared to age-matched natural conception controls, patients who conceived after IVF had significantly lower parity (0.6 ± 0.9 vs 0.9 ± 1.1, p < 0.001) and a higher rate of maternal comorbidities (17.3% vs 11.7%, p = 0.002)

  • Patients who conceived after IVF with unscreened embryos were more likely to have conceived after oocyte donation (28.4% vs 13.9%, p < 0.001)

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Summary

Introduction

Preimplantation genetic testing for aneuploidy (PGT-A) has been increasingly adopted by in vitro fertilization (IVF) clinics across the USA, with reported use in over 40% of autologous IVF cycles in 2018 [1]. Abnormalities of fetal anatomy detected on prenatal ultrasound are reported in approximately 3–4% of pregnancies [8]. It is estimated that nearly one quarter of congenital anomalies are secondary to a genetic etiology, and 5–10% result from identifiable environmental or maternal exposures. With a modern ultrasound technology, sensitivity of antenatal ultrasound for the detection of fetal anomalies has significantly improved, with detection rates of approximately 93% for cleft lip and palate, 75–83% for abdominal wall defects, and 53% for selected heart defects [11,12,13]. Abnormalities detected on midtrimester ultrasound influence the management of the remainder of the pregnancy and have been found to be significantly associated with the likelihood of pregnancy termination [14]

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