Genetic analysis during pregnancy after IVF

During the period when she is carrying a child conceived by in vitro fertilization (IVF), the woman undergoes a number of mandatory examinations, necessary both to assess the state of the fetus and to monitor the health of the future mother. Genetic analysis of blood during pregnancy after IVF aims to exclude the risks of chromosomal and congenital anomalies in the child.

The most commonly detected pathologies are as follows:

• Down syndrome (trisomy 21)
• Edwards syndrome (trisomy 18);
• Patau syndrome (trisomy 13);
• Neural tube defects;
• Congenital heart defects.

These conditions can significantly affect fetal development and require early detection in order to make informed medical decisions. Given that the probability of chromosomal anomalies may be higher in the case of IVF due to the age of the patients and the nature of the reproductive technology, genetic testing is particularly important. According to a study published in Human Reproduction (2020), the risk of chromosomal anomalies increases by 20 to 30% in women over 35 who undergo IVF compared to natural pregnancies. This is due to age-related changes in reproductive cells and factors associated with the IVF process, including the use of frozen embryos and ovulation stimulation.

The main types of genetic tests for pregnancies after IVF are as follows:

First trimester (11-13 weeks)

During the first trimester, biochemical screening is performed, including blood tests for:

• PAPP-A (Pregnancy-associated Plasma Protein A), a marker used to determine the risks of Down syndrome, Edwards syndrome, and other malformations. It also helps assess the likelihood of early miscarriage, which is particularly important in IVF pregnancies.
• Free β-hCG (beta subunit of human chorionic gonadotropin) is a marker for chromosomal aberrations such as Edwards syndrome and Down syndrome.

These markers allow for calculating the individual risk of chromosomal and congenital diseases.

Second trimester

During the second trimester, two screening options are available:

• Double test: analysis of AFP (alpha-fetoprotein) and free β-hCG;
• Triple test: AFP, free β-hCG, and free estriol.
• Alpha-fetoprotein (AFP) is an indicator of the likelihood of congenital diseases, including Down syndrome.
• Free estriol - helps identify the risks of chromosomal anomalies, intrauterine developmental delays, and adrenal diseases. It also helps determine the threat of fetal-placental insufficiency and miscarriage.

For patients who have undergone IVF, biochemical screening is performed with particular attention due to the increased risk of chromosomal anomalies, preterm birth, pre-eclampsia, and intrauterine developmental delays. The likelihood of multiple births is also higher, necessitating close monitoring.

Medical and genetic counseling

If screening reveals a high risk of chromosomal and congenital diseases, it is recommended that the patient undergo medical and genetic counseling. Specialists will determine the need for additional testing and develop a personalized pregnancy management plan.

Additional studies may include:

• Non-invasive prenatal testing (NIPT) - analysis of fetal DNA to detect chromosomal anomalies;
• Amniocentesis - sampling of amniotic fluid to diagnose genetic diseases;
• Cordocentesis - examination of fetal blood to detect genetic and infectious pathologies;
• High-resolution ultrasound diagnosis - evaluation of the anatomical features of the fetus.

Genetic analyses at the NatuVitro clinic

At the "Natuvitro" clinic, specialized in in vitro fertilization, you can undergo genetic testing as part of biochemical screening. We offer an individualized approach to each patient, taking into account the specifics of pregnancy after IVF. To make an appointment, please use the Contact Us section of our website.