We studied 70 RH incompatible patients and diagnosed 48 RHD positive, 19 RHD negative and 3 RHD variant fetuses. discoveries was open. Microarray technology and advances in sequencing helped fetal diagnosis as well as other areas of medicine. Today it is a very crucial prerequisite for physicians practicing prenatal diagnosis to have a Rabbit Polyclonal to AQP12 profound knowledge in genetics. Prevailing practical use and application of fetal genomic assessments in maternal and fetal medicine mandates obstetricians to update their knowledge in genetics. The purpose of this review is to assist physicians to understand and update their knowledge in fetal genetic testing from maternal blood, individualized prenatal counseling and advancements on the subject by sharing our experiences as stanbul University Fetal Nucleic Acidity Research Group. Keywords: Genomics, Non-invasive, Prenatal TAPI-2 diagnosis, fetal personalized medicine == FREE FETAL NUCLEIC ACIDS IN MATERNAL BLOOD AND SERUM == Non-invasive prenatal diagnosis (NIPD) has become the most groundbreaking topics in medicine in the last decades. It could be applied anytime throughout pregnancy without the risk of fetal loss being the most prominent advantage. Its diagnostic sensitivity in some genetic diseases is close to invasive procedures and close to 100% in some chromosomal anomalies. Furthermore, NIPD enables study on fetal physiology avoiding any harm to fetus making it promising intended for future studies. Technology that enables fetal genetic analysis without invasive procedures will not be limited to this topic for sure. Presumably and progressively, the TAPI-2 method will catch on in other branches of medicine evolving routes of diagnosis and therapy as we know it. There is already a new era in oncology where free tumor DNA analysis helping to diagnose cancer prior to metastasis. Due to its unique state, obstetrics and gynecology frontiered this approach similar to ultrasound and laparoscopy. We believe that obstetricians should comprehend the new revelations as soon as possible. On this note we founded stanbul University Fetal Nucleic Acidity Research Group as a collaboration of stanbul University Cerrahpaa Medical Faculty Obstetrics and Gynecology Ward and stanbul University Molecular Biology and Genetics Ward. The first and most important step in NIPD is the isolation of fetal nucleic acids. Mandel and Mateis noticed cell free fetal DNA and RNA in both healthy and diseased topics plasma in 1948(1). However this discovery was not given proper credit at the time since it was not fully comprehended. Isolation of cell free fetal DNA (cffDNA) in maternal serum in 1997 by Lo et al. was the corner stone for NIPD(2). Following the isolation of cffDNA numerous methods were developed to reveal genomic (DNA), transcriptomic (RNA) and proteomic functions via gene expression, gene quantification and genetic sequencing. Mounting these with advanced software technologies accelerated the progress in genetics in the last decade. == CELL FREE FETAL DNA (CFFDNA) == cffDNA has been shown to exist in maternal spinal fluid, urine and intra-abdominal peritoneal fluid(3). The ratio of cffDNA to free DNA in maternal serum serum is about 10% (3-19%)(2)cffDNA, due to its relationship with placental microparticles is not hydrolised by circulatory nucleases and remains stable(4). Ones the placental microparticals are cleared as in postpartum, is it quickly cleared from maternal circulation(5). The source of cffDNA in maternal circulation is placenta, fetal hematopoietic cells and fetal DNA itself(6). Physiological and clinical data reveal that most of free nucleic acids in circulation originate from placenta rather than fetal hematopoietic cells. cffDNA in maternal circulation can be detected as early as 28thdays after conception. Since fetoplacental blood circulation does not start at that time, cffDNA is more likely to be shed from trophoblasts rather than hematopoietic cells(7). Maternal cell free DNA has 162 to 169 base pairs. Placental cffDNA TAPI-2 on the other hand, offers 143 base pairs since it does not contain 20 base pair extension to attach to nucleus. Wataganara et al. (2004), released strong evidences supporting placental origin of cffDNA when they examined first trimester elective pregnancy terminations. The study examined 134 first trimester elective pregnancy terminations, where 71 patients were surgically extracted and 63 were medically (misoprostol) induced. CffDNA levels in maternal blood following surgical extractions were significantly higher due to fetomaternal TAPI-2 bleeding and destruction of trophoblastic villi. On the other hand, in medically induced terminations, cffDNA was positive in maternal blood 11 days after initiation of termination. Wataganara believed that this delay was caused by the residual placental TAPI-2 tissue in uterus(8). Placental mass and circulatory fetal DNA levels do not correlate. Increased cffDNA in maternal blood is caused by placental hypoxia or trophoblastic destruction(9, 10). Even though most studies examined cffDNA in maternal blood, amniotic fluid is a good source of fetal DNA. Bianchi et ing. showed that at 16-20 weeks of gestation, fetal DNA in amniotic liquid is 75 to two hundred times the total amount in maternal blood. It truly is hypothesized.