Obstetrics and Gynecology

Quantitative fluorescent polymerase chain reaction. In live newborns, aneuploidies involving chromosomes 21, 18, 13, X and Y account for 95% of all chromosome abnormalities. Prenatal diagnosis of these abnormalities is generally based on conventional cytogenetic analyses performed by culturing amniotic fluid, chorionic villus or fetal blood cells. With the cytogenetic method, the prenatal diagnosis period takes 2-3 weeks. In order to support the diagnosis and to reassure the patient during the conventional cytogenetic reporting process, a preliminary report is provided using the QF-PCR method.

In some couples diagnosed with infertility, a male factor is observed, and performing this test is recommended in some of these patients. In particular, when azoospermia or severe oligoasthenoteratospermia (OAT) is detected, chromosome analysis and Y chromosome microdeletion analysis are requested in these individuals. The Y chromosome, found only in males, contains the AZF region, which is known to be responsible for sperm production. Deletions occurring in the AZF region, which is divided into 3 parts as AZFa, AZFb and AZFc, cause a decrease in sperm count or complete cessation of sperm production.

It enables the detection of numerical and structural changes in the fetus's chromosomes during weeks 16-20 of pregnancy. It is recommended in cases where the mother is over 35 years of age, biochemical screening tests indicate high risk, there are pathological ultrasound findings, there is a history of a previous child with a chromosomal anomaly, the parents have a balanced chromosome change, or there are medical interventions such as intracytoplasmic sperm injection that increase the risk of chromosomal disease.

It enables the detection of numerical and structural changes in the fetus's chromosomes after the 20th week of pregnancy. If any reason constituting an indication for prenatal chromosome analysis is identified after the 20th week of pregnancy, chromosome analysis from fetal blood is preferred in order to obtain results earlier. In addition, if mosaicism is detected in chromosome analysis performed on amniotic fluid, chromosome analysis from fetal blood can be performed to confirm the mosaicism.

It is a test applied during pregnancy to examine the baby's chromosomes. Chorionic villus sampling is also referred to as placental biopsy.

The chorionic villus sampling (CVS) test is performed to investigate whether the baby has certain genetic diseases and to examine the baby's genetic structure and chromosomes. The most commonly investigated genetic disorder is Down Syndrome. The CVS test examines the baby's chromosomal structure and, if present, genetic disorders. With chorionic villus sampling (CVS), Edward Syndrome, Patau Syndrome, Turner Syndrome and Klinefelter syndrome disorders can also be detected in addition to Down Syndrome.

It enables the detection of numerical and structural changes in chromosomes. Chromosome analysis is performed for reasons such as dysmorphic findings, congenital malformation, growth and developmental delay, mental and motor retardation, infertility, three or more pregnancy losses, and the presence of a chromosome anomaly in the family.

Prothrombin G20210A Mutation, MTHFR C677T Polymorphism, MTHFR A1298C Polymorphism, Factor V Leiden Mutation G1691A, PAI-1 4G/5G Polymorphism, Factor XIII V34L Mutation.

Thrombophilia is a term used to describe conditions in which the tendency for blood clotting is increased and therefore the risk of venous thromboembolism (VTE) is high. Many hereditary and acquired factors leading to thrombophilia have been identified. Screening for Factor 5, Factor 2 and MTHFR (C677T, A1298C) mutations provides a high diagnostic value of 99%.