关键词: Fetal anomaly Hemimelia ICSI PGD mosaic Turner's syndrome

Mesh : Adult Chromosomes, Human, X / genetics Ectromelia / diagnosis Female Humans Infant, Newborn Limb Deformities, Congenital / diagnosis Pregnancy Pregnancy Outcome Pregnancy, Twin Preimplantation Diagnosis Prognosis Sperm Injections, Intracytoplasmic Turner Syndrome / diagnosis genetics Upper Extremity

来  源:   DOI:10.1080/15476278.2017.1358842   PDF(Sci-hub)

Abstract:
Turner\'s syndrome (TS) is depicted as a total or partial absence of X chromosome, and occurs in approximately 1/2200 of live born females. Generally, mosaic patients are diagnosed following karyotype analysis due to recurrent pregnancy loss, repeated in vitro fertilization (IVF) failure, and a history of malformed babies. The purpose of this case report is to show that even a selection of normal karyotype embryos can result in abnormalities for those with mosaic TS. A 32-year old patient who underwent IVF after ICSI-PGD, and was diagnosed with 45X/46XX karyotype. At the 12-week scan, one of the fetuses had an upper limb hemimelia in one arm, and feticide was applied to that fetus. The patient delivered a healthy, 2980 g female baby at the thirty-eighth week. In mosaic TS pregnancies (even those obtained by ICSI-PGD), fetal anomaly risk is high. Therefore, careful prenatal scanning is needed for these pregnancies.
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