I'm already 18 weeks pregnant and I know that it is the last call for an invasive test called amniopuncture. I got pregnant with my cousin, so our fathers are brothers. I did Papp tests and it came out very positive, low probability of having a baby with the genetic defect that this test includes. Due to the relationship, I am constantly thinking about amniocentesis, but knowing that there is a likelihood of fetal damage or other complications, I feel anxious and resigned. We have the same blood type Rh with the father of the child -.
Due to the relationship, the risk of diseases related to mutations of single genes increases mainly, and this requires "targeted" diagnostics, because amniocentesis itself is usually performed in order to analyze chromosomes and does not allow for the assessment of individual genes. With a normal ultrasound image and a double test result that does not indicate an increased probability of chromosomal aberration, performing amniocentesis is medically unjustified, but you should discuss this in person at a genetic clinic.
Remember that our expert's answer is informative and will not replace a visit to the doctor.
Prof. extra Aleksandra Jezela-Stanek, MD, PhDHe has been specializing in clinical genetics for several years. Currently, he is an associate professor at the Children's Memorial He alth Institute in Warsaw. Permanently associated with Silesia where, among others in cooperation with testDNA Laboratorium Sp. z o.o. provides telephone consultations to patients who want to discuss the results of genetic tests or talk about the transmission of genetic diseases in the family. In practice, he deals with the diagnosis of genetic causes of birth defects, developmental disorders and pregnancy failures.
Patients have the opportunity to obtain information on the effects of a given DNA test result, the need to take preventive measures and indicate tests necessary to perform and then diagnose the disease. Ms Docent is appreciated not only for her knowledge and professionalism, but also for a nice disposition towards patients, which was often emphasized by them on internet forums.
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