MEDICAL SECOND OPINION

Perinatology "High Risk Pregnancies"

Perinatology, also known as maternal-fetal medicine, is a subspecialty of obstetrics and gynecology that focuses on preventing, diagnosing, and treating abnormalities that may occur in both the mother and fetus during pregnancy. It primarily deals with "high-risk pregnancies" and aims to provide specialized care for both the mother and unborn child..
After becoming an Obstetrician and Gynecologist, Perinatology specialists undergo an additional 3-year subspecialty training program under "Perinatology."
Pregnancy is not a disease; it is a physiological event. However, in the presence of certain conditions related to the mother or baby, the health of either one can be endangered, and even life-threatening risks can arise for the mother or fetus. Pregnancies that have the presence of such risky situations or have a likelihood of such occurrences are referred to as "High-Risk Pregnancies."

In which situations can high-risk pregnancies be identified?

Pregnancy is a process that extends up to the period before pregnancy. It is beneficial for pregnant women and expectant mothers to seek advice from a perinatology specialist in the following situations:

Before Getting Pregnant:

For pregnant candidates with systemic diseases such as diabetes, hypertension, and thyroid disease:
Before getting pregnant, it is necessary to bring the mother's fasting and postprandial blood sugar levels back to normal and preferably start insulin therapy. Since organ differentiation occurs in the fetus, anomalies may develop during the first eight weeks of pregnancy; if there is poor blood sugar control, the risk of abnormalities in the fetus (baby in the womb) can increase up to 10 times. It may be too late when attempting to adjust blood sugar levels to ideal levels for pregnancy after pregnancy. Similarly, pregnant candidates with thyroid disease need to normalize their thyroid hormone and TSH levels before getting pregnant. Severe hypothyroidism during pregnancy can negatively affect the baby's cognitive development and intelligence.
If there is a genetic inherited disease in the mother, father, or their families, the baby may have a similar disease in the pregnancy. For example, current topics such as SMA disease, Mediterranean anemia (Thalassemia), muscular diseases, and many other genetic diseases, if carrier status is present in parents, a healthy baby can be born before pregnancy with IVF and preimplantation genetic diagnosis. By using appropriate diagnostic methods (such as amniocentesis, CVS, and NIPT) during pregnancy monitoring, it is possible to have a healthy baby.

During Pregnancy:

The presence of a genetic disease with a hereditary pattern in the mother, father, or close relatives (such as SMA, Mediterranean Anemia, muscular diseases, metabolic diseases, etc.)
Previous delivery of a baby with chromosomal or structural anomalies or termination of pregnancy due to such anomalies.
Detection of anomalies in the fetus through ultrasound during pregnancy.
Bleeding during pregnancy and suspicion of abnormalities related to the placenta (the baby's attachment) in ultrasound (such as placenta previa, placental detachment, placental invasion anomalies, etc.).
High risk is detected in screening tests such as the dual, triple, quadruple, or NIPT (fetal DNA, cffDNA, NIFT) tests. This does not necessarily mean that there is a problem with the baby, and further investigation (such as chorionic villus sampling, amniocentesis, cordocentesis, detailed ultrasound, etc.) by a perinatology specialist is required to determine whether there is a chromosomal anomaly.
Diabetic pregnant women.
Pregnant women with epilepsy who are taking anti-epileptic drugs.
Pregnant women who have unknowingly or knowingly taken teratogenic drugs (drugs that can cause abnormalities in the baby) at the beginning of pregnancy or due to their illness.
Gestational diabetes that develops during pregnancy.
Pregnant women with chronic hypertension or pregnancy-specific hypertensive disorders that occur after the 20th week of pregnancy (Gestational Hypertension, Preeclampsia).
Pregnant women with chronic kidney disease or who have undergone renal transplantation.
Pregnant women with blood disorders that can cause problems during pregnancy (Thrombocytopenia, Thrombocytosis, Coagulation Factor Deficiencies).
Autoimmune diseases (Antiphospholipid Syndrome).
Follow-up of pregnant women with affected blood group incompatibility (Rh).
Pregnant women with fetal growth restriction detected during pregnancy follow-up.
Detection of the overweight baby according to gestational age.
Detection of decreased (Oligohydramnios) or increased (Polyhydramnios) amniotic fluid levels in the baby.
Twin (multiple) pregnancies. In monochorionic twins with a single placenta structure, evaluation by a perinatology specialist is required once between 11-14 weeks and then every two weeks from the 16th week of pregnancy.
Pregnant women with preterm premature rupture of membranes.
Pregnant women who have contracted certain infectious diseases (such as Toxoplasmosis, CMV, and Rubella) can also cause anomalies in the baby. Evaluation by a perinatology specialist and, if necessary, planning for in-utero treatment is required to determine whether the infection has passed to the baby and whether it has had any adverse effects on the baby (as in the case of Toxoplasmosis).

If there are no pregnancy-related risk factors:

The probability of a significant anomaly in the fetus in each pregnancy is 3-4%, and the risk of a minor anomaly is 8-10%. Also, there is a 0.3% chance of a chromosomal anomaly in the fetus. Therefore, anomaly screening by ultrasound and testing for chromosomal anomalies, such as dual marker or NIPT (cf fetal DNA) tests, are recommended in all pregnancies during weeks 11-14. Because for common chromosomal anomalies, such as Down syndrome, there may be no abnormal signs on ultrasound in 30% of fetuses and 10-15% of fetuses with trisomy 13 and trisomy 18. Therefore, ultrasound alone is insufficient for diagnosing chromosomal anomalies; additional tests such as dual markers or NIPT should be used to support the diagnosis.
It is recommended that the 11-14 week ultrasound examination be performed by perinatology specialists who are experts in the field.

The 2nd trimester detailed (level 2) ultrasound examination, preferably at the 20th week of pregnancy, between the 18th and 23rd weeks, must also be performed by perinatology specialists. This examination is the most detailed evaluation conducted during pregnancy to determine whether there are any anomalies in the fetus.

Created at 11.10.2023 06:55
Updated at 21.05.2024 07:03
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