Fetal malformations: causes, diagnosis, and influence of conception methods

Particularities and causes of malformations

Fetal malformations are functional or anatomical anomalies that occur during intrauterine development. They can be detected before birth, during delivery, or after the child is born. The causes of these anomalies are diverse: genetic mutations, infections, unfavorable environment, and chronic diseases of the mother. The course of the pregnancy, including the mode of conception, also plays an important role.

In the case of a natural pregnancy, the risk of congenital malformations may be higher, especially if it occurred spontaneously, without medical preparation. The presence of chronic diseases, a deficiency in folic acid, the mother’s age over 35 years, as well as exposure to harmful factors (tobacco, alcohol, chemicals, radiation) increase the risks of anomalies. It is also important to consider insufficient prenatal care in the early stages of pregnancy, which limits preventive possibilities.

In vitro fertilization (IVF) programs offer a more controlled approach. Before the procedure, the couple undergoes a comprehensive medical examination, allowing for the identification and minimization of potential risks. The use of preimplantation genetic diagnosis as part of IVF allows for the selection of healthy embryos, significantly reducing the risk of chromosomal abnormalities.

Particular attention is given to oocyte donation and double donation protocols. For oocyte donation, the donor undergoes rigorous medical and genetic selection, minimizing the risk of transmitting hereditary diseases. Double donation programs, which use both eggs and sperm from donors, offer a particularly high level of safety due to an additional step of genetic screening.

Although it is impossible to completely exclude the possibility of anomalies, their development can be prevented through good preparation for pregnancy: correcting diet, taking folic acid, vitamin D, and iodine, treating chronic diseases, and avoiding contact with toxic substances and infections.

Methods for diagnosing fetal development anomalies

An effective diagnosis plays a key role in the early detection of congenital pathologies. Screening during the first trimester (11-14 weeks) includes an ultrasound and a biochemical blood analysis (determination of hCG and PAPP-A levels). During the second trimester (16-18 weeks), further evaluation is performed based on estradiol, alpha-fetoprotein levels, and ultrasound results. At a more advanced stage (32-34 weeks), cardiotocography and Dopplerometry are widely used in diagnosis.

Among the most frequently detected anomalies are Down syndrome, Edwards syndrome, limb malformations, neural tube defects, heart defects, and facial anomalies (such as "cleft lip" and "cleft palate"). In case of suspected pathology, doctors refer pregnant women to a geneticist and to invasive diagnostic methods: amniocentesis, chorionic biopsy, placental biopsy, or cordocentesis. These examinations allow for the collection of fetal cells for chromosomal and molecular analysis.

Non-invasive prenatal testing (NIPT), based on the analysis of maternal blood, is becoming increasingly popular due to its safety. However, this method has its limitations, particularly in cases of multiple pregnancies or suspected chromosomal restructuring.

Particular caution is warranted for women over the age of 35, families with a history of genetic diseases, couples from consanguineous marriages, or parents who have been exposed to unfavorable environmental factors.

Caring for your child's future

The obstetricians-gynecologists at the "Natuvitro" clinic have all the necessary resources to ensure the smooth progression of pregnancy. With modern diagnostic methods and a personalized approach for each patient, our specialists support you at every stage of your pregnancy with complete peace of mind. Make an appointment to entrust the health of your future baby to professionals.