A neonatal form of Steinert's myotonic dystrophy in twins after in vitro fertilization.

Autor:	García de Andoin N; Department of Pediatrics, Hospital Donostia, San Sebastián, Spain. ngarbar@yahoo.com, Echeverría J, Cobo AM, Rey A, Paisán L, López de Munain A
Jazyk:	angličtina
Zdroj:	Fertility and sterility [Fertil Steril] 2005 Sep; Vol. 84 (3), pp. 756.
DOI:	10.1016/j.fertnstert.2005.03.062
Abstrakt:	Objective: To report a case of nonidentical twins affected with a congenital form of Steinert's myotonic dystrophy (DM1), conceived by IVF owing to parental sterility, in which the mother presented a paucisymptomatic form of DM1 which was diagnosed as a result of the condition inherited by the twins. Design: Case report. Setting: Neonatal intensive care unit of a tertiary hospital. Patient(s): Newborn twins affected with the congenital form of DM1 and a 35-year-old nulliparous mother. Intervention(s): In vitro fertilization. Main Outcome Measure(s): Molecular study of the CTG triplet expansion related with DM1. Result(s): Molecular study evidenced a pathologic expansion in both twins as well as in their mother. Conclusion(s): This case should serve as a reminder to practitioners that assisted reproductive techniques have opened the possibility that asymptomatic or paucisymptomatic carriers of a genetic syndrome can inadvertently conceive fetuses affected with more serious forms of the illness.
Databáze:	MEDLINE
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