OBJECTIVE: To develop and apply clinical preimplantation genetic diagnosis (PGD) for Marfan syndrome. DESIGN: Case report. SETTING: Centers for medical genetics and reproductive medicine in university hospitals. PATIENT(S): One couple in which the husband was affected with Marfan syndrome. INTERVENTION(S): The couple underwent three intracytoplasmic sperm injection cycles. MAIN OUTCOME MEASURE(S): The correct diagnosis was obtained for embryos in three PGD cycles. RESULT(S): Although all the PGD cycles were followed by ET, no pregnancy ensued. CONCLUSION(S): This assay can provide a reliable and accurate preimplantation diagnosis of Marfan syndrome.
OBJECTIVE: To develop and apply clinical preimplantation genetic diagnosis (PGD) for Marfan syndrome. DESIGN: Case report. SETTING: Centers for medical genetics and reproductive medicine in university hospitals. PATIENT(S): One couple in which the husband was affected with Marfan syndrome. INTERVENTION(S): The couple underwent three intracytoplasmic sperm injection cycles. MAIN OUTCOME MEASURE(S): The correct diagnosis was obtained for embryos in three PGD cycles. RESULT(S): Although all the PGD cycles were followed by ET, no pregnancy ensued. CONCLUSION(S): This assay can provide a reliable and accurate preimplantation diagnosis of Marfan syndrome.
Authors: N Samara; S Peleg; T Frumkin; V Gold; H Amir; Einat Haikin Herzberger; A Reches; Y Kalma; Dalit Ben Yosef; F Azem; M Malcov Journal: Mol Cytogenet Date: 2022-03-21 Impact factor: 2.009