講演情報
[IL3]The History and Future of Prenatal Diagnosis
○Mark I Evans (Icahn School of Medicine at Mount Sinai, New York, USA)
Prenatal diagnosis began in the 1960s by blindly sticking a needle into the uterus, hoping not to hit the fetus, and getting fetal cells for analysis – which usually took about a month. Genetic screening consisted of asking the patient “how old are you?” Selective Mendelian screening could only address simple genetic alterations such as Sickle Cell Anemia, Tay Sachs disease, and alpha and beta thalassemia. Services were very limited, expensive, risky, and only expanded once patients began to have the option to terminate a pregnancy if unhealthy. Though the 70s, 80s, and 90s, concomitant development of ultrasound added a new dimension of capabilities and increased the cadre of trained physicians. Increasingly over the last 20 years, expanding laboratory techniques have assumed a bigger part of the armamentarium. Procedures have become much safer in experienced hands, the laboratory capabilities from obtained specimens have increased logarithmically, but most of the growth is now in NIPT which has become ubiquitous because it identified fetal gender without a procedure. However, NIPT can only find about 20% of what can be found with CVS or amniocentesis and paradoxically, as procedure rates have fallen, has resulted in an epidemic of abnormalities missed because of NIPT. Expanding genetic counseling services are urgently needed so patients can understand their expanded options and the implications of choices they make. Genetic screening and testing is for information only. What patients choose to do with the information is their decision. However, we can’t treat something until we have diagnosed it.