Pregnancy and Birth After a Two-Step PGD: Polar Body Diagnosis for Hemophilia A and Array CGH on Trophectoderm Cells for Chromosomal Aberrations.
Objective:To demonstrate that a PGD program can be successfully established after the 2011 verdict of the German Bundestag concerning PGD.Material and Method:Eight years previously, the couple had had a daughter who suffered from clinically manifest hemophilia A due to an unbalanced X-inactivation, as well as microdeletion syndrome resulting in severe physical and mental disability. The couple wished to have a second child but refused the idea of a "trial" pregnancy. Given the indications for both, it was necessary to carry out polar body diagnosis (PBD) to rule out hemophilia A and, during the same cycle, a subsequent PGD on the blastocysts to rule out genetic aberrations. The PBD and PGD (trophectoderm biopsy, TEB) were performed after high-dosage ovarian stimulation and ICSI fertilization of the oocytes. A blastocyst was successfully transferred on day 6.Results:The patient conceived immediately. The pregnancy developed normally and the patient gave birth to a girl in the 40th week of pregnancy. Post-natal examinations showed that the baby is free from hemophilia A and is developing normally both physically and mentally.Conclusion:Establishment of a PGD program is now possible after legalization of PGD in Germany. It is possible to apply two investigative techniques in a single treatment cycle if multifactorial diagnosis is required.
KCM (Kinderwunsch Centrum München), Munich.
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W
Würfel
KCM (Kinderwunsch Centrum München), Munich.
R
R
Suttner
KCM (Kinderwunsch Centrum München), Munich.
D
D
Shakeshaft
MGZ (Medizinisch-Genetisches Zentrum), Munich.
V
V
Mayer
MGZ (Medizinisch-Genetisches Zentrum), Munich.
U
U
Schoen
MGZ (Medizinisch-Genetisches Zentrum), Munich.
K
K
Sendelbach
MGZ (Medizinisch-Genetisches Zentrum), Munich.
M
M
Locher
MGZ (Medizinisch-Genetisches Zentrum), Munich.
U
U
Koehler
KCM (Kinderwunsch Centrum München), Munich.
K
K
Fiedler
KCM (Kinderwunsch Centrum München), Munich.
G
G
Krüsmann
MGZ (Medizinisch-Genetisches Zentrum), Munich.
E
E
Holinski-Feder
chromosomal aberration; comparative genomic hybridisation; hemophilia A; polar body diagnosis; trophectoderm biopsy