Whether it’s prenatal diagnostics, a tendency to thrombosis or a predisposition to breast and ovarian cancer – genetics have become an integral part of gynaecology. An overview.
Genetic aspects play a major role, particularly in the care of pregnant women, but also in contraceptive counseling and oncological followingcare. Although interdisciplinary genetic counseling is reserved for a human geneticist, gynecologists are also allowed to provide information and advice prior to genetic examinations. This is regulated in Genetic Diagnostics Act and a Written exam qualifies for so-called subject-related genetic counseling.
Prenatal diagnosis and pregnancy care
Prenatal diagnostics now plays a prominent role in the care of pregnant women. Parent couples are very well informed through research on the Internet and regularly address prenatal diagnostic methods. Families who already have a history of predisposition – for example due to the illness of a parent, a sibling or a close relative – have justified concerns regarding the health of their unborn child.
The non-invasive prenatal test (NIPT) becomes a health insurance benefit in July 2022 in special risk constellations. From the 10th week of pregnancy, the maternal blood is examined for fetal trisomies 21, 18 and 13. Analyzes for numerical chromosomal aberrations of the gonosomes, such as in a Turner– or Klinefelter Syndrome, remain self-paying services. If the findings are conspicuous, the result is verified by an Amniozentese or Chorionzottenbiopsie.
Even experts see the imprecise definition of “risk constellation” as an obstacle to a uniform approach. Ultimately, the treating gynecologists have to decide whether an increased fear of malformations on the part of the pregnant woman is already sufficient to classify a NIPT as a health insurance benefit, or whether it remains an individual health service (IGeL) as before.
The first trimester screening between 11 and 14 weeks of pregnancy includes a detailed ultrasound examination, which is supplemented by a nuchal translucency screening. The adjusted risk for trisomy 21 is calculated from the height of the child’s nuchal fold, the maternal age and the biochemical parameters free ß-HCG and PAPP-A. If there is a pathological finding, amniocentesis is recommended. If this is inconspicuous, there is still an increased risk of heart failure, a syndromic disease or intrauterine fetal death.
The ultrasound examination from the 20th week of pregnancy is still the gold standard: so-called soft markers such as a white spot in the heart ventricle or a hypoplastic nasal bone can be an indication of chromosomally caused syndromes. Actual malformations such as a heart defect, a Spina bifida or one The one who slapped him. The obvious consequence here would be a check-up in a special consultation for sonographic organ screening and the exclusion of malformations.
Genetics make vaccination unnecessary
To date, all Rhesus-D negative pregnant women have received anti-D prophylaxis. Since the middle of last year, those affected have had the opportunity to have the child’s Rhesus factor in their mother’s blood determined from the 12th week of pregnancy. This means that only those pregnant women who are expecting a Rhesus D-positive child receive a vaccination. Since this is a prenatal genetic examination, the medical information and advice is mandatory according to the Genetic Diagnostics Act.
Unfulfilled desire to have children and habitual miscarriage tendency
In regarding every tenth couple who want to have children, this occurs following 12 months no spontaneous pregnancy a. The cause lies equally with both the woman and the man. Since there is an increased risk of numeric deviations of the gonosomes in fertility disorders, a chromosome analysis of both parents is recommended before IVF or ICSI therapies.
If a woman suffers three miscarriages, also in alternation with liveborn children, one speaks of a habitual miscarriage tendency. Chromosomal aberrations are the cause of around 50% of early miscarriages. From a human genetic point of view recommends In the case of repeated miscarriages, a chromosome analysis of the parents and a clarification of thrombophilia risk factors are useful.
thrombophilia diagnostics
Mutations in the factor V or factor II gene, protein S deficiency and hyperhomocysteinemia, but also a pathological antiphospholipid antibody level can increase both the rate of miscarriages and the risk of thrombosis under estrogen-containing hormone therapy. If there is a family history or family history of a tendency to thrombosis, it is advisable to take a blood sample for thrombophilia diagnostics before prescribing hormone preparations, followed by advice within the framework of the Gene Diagnostics Act.
Familial burden of cancer
About a quarter of all breast cancer cases run in families and a disease-causing gene can be found in 5 to 10% prove. This is usually the BRCA1 or BRCA2 gene. Women with high-risk genes have a 50-80% lifetime risk of developing breast cancer; for the contralateral side it is 60%. The risk for a Ovarian alcarzine is between 10 and 40%. Genetic counseling and testing is recommended in the following family risk constellations:
- 1 woman with breast cancer ≤ 35 years
- 1 woman with bilateral breast cancer ≤ 50 years
- 2 women with breast cancer, 1 of whom had the disease < 51 years of age
- 3 women with breast cancer
- 1 woman with breast cancer and 1 woman with ovarian cancer
- 2 women with ovarian cancer
- 1 woman with breast and ovarian cancer
- 1 male with breast cancer and 1 female with breast or ovarian cancer
If a genetic disposition is confirmed, the patient is recommended to be included in an intensified screening program.
Exciting Epigenetics
For years researches Prof. Elisabeth Binder, Director at the Max Planck Institute for Psychiatry in Munich, how environmental factors influence a person’s molecular biology. She investigates the epigenetic changes in the human genome as a result of trauma mostly experienced in early childhood. Stress and violence can change the activity of parts of the brain and remain in the genome like scars.
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Such epigenetic changes might increase the individual risk for depression, anxiety disorders or post-traumatic stress syndrome in later life. Even in the next generation, effects can still be seen. An interesting approach that makes gynecological practice sit up and take notice of anamnestic childhood trauma, such as sexualized violence, and treat it across disciplines.
Conclusion
Molecular genetics is becoming increasingly important in modern medicine. The Genetic Diagnostics Act regulates the obligation to provide information and advice and also enables specialist genetic advice for gynaecologists.
The concrete implementation of new services and time-consuming consultations in everyday gynecology becomes challenging. Overall, this is an exciting topic that might revolutionize medicine in the years to come.
Image source: Sangharsh Lohakare, Unsplash
