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Miracle Childbirth: World’s First Case of Medically Assisted Procreation for Alstrom Syndrome

“It was an immense joy, the greatest of my life.” This is how Mrs. Daniela (invented name) comments on the outcome of the pregnancy which, at the end of last May, and against all expectations, made her mother of little Marco (invented name). A real event, given that, they explain from the Sant’Anna hospital in Turin, where the lady was followed during her pregnancy and where she gave birth, it is the “first case in the world of childbirth after medically assisted procreation of a woman suffering from Alstrom syndrome”. Daniela, 32 years old from Turin, with a history of infertility that had lasted for several years, had the baby at the University Gynecology and Obstetrics clinic 1 of the Sant’Anna hospital of the Città della Salute in Turin directed by Professor Chiara Benedetto. A success – not the first for the hospital – in spite of a disease that has few cases in the world, which is characterized by alterations of many organs (due to mutations of the ALMS1 gene) and manifests itself with serious vision and hearing problems, tendency to obesity, diabetes, heart, kidney and liver dysfunction and, often, infertility.

However, Daniela wanted to become a mother, and for this it was necessary to perform an in vitro fertilization with direct injection of the sperm into the oocytes. The patient then underwent ovarian stimulation, surgical recovery of the oocytes, and pre-implantation genetic diagnosis in search of any alterations in the number of chromosomes of the embryos. Once the result of the genetic investigations was obtained, a single embryo was transferred to the uterus. Then, growth, until the end of pregnancy. And here is Marco, a 3110 gram boy in excellent health.

Childbirth-miracle at Sant’AnnA: this is how it arrived

The path of Medically Assisted Procreation was followed by Dr. Andrea Carosso, who is part of the team of the PMA Center, pertaining to University Gynecology and Obstetrics 1, of which Dr. Gianluca Gennarelli is the referent. The pregnancy was followed in collaboration with the team of the high-risk pregnancies clinic, of which Professor Luca Marozio is the referent. At 38 weeks, a slight worsening of the maternal cardiovascular and metabolic functions led Professor Benedetto’s team to schedule a cesarean delivery, performed with the support of the anesthesiological team directed by Dr. Simona Quaglia. The newborn was taken care of by the University Neonatology Department (directed by Professor Alessandra Coscia). Mother and baby returned home after a few days in excellent condition.

2023-07-09 12:17:03


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