PERINATOLOGY AND HIGH RISK PREGNANCY

Who should consult a perinatologist?

Diagnosis of fetal or pregnancy-related diseases before birth and appropriate treatment planning are important and involve many steps. Therefore, it is important that a perinatologist sees a expectant mother at least once during her pregnancy. For this purpose, the expectant mother is examined at 11-14 and/or 20-22 weeks of gestation, and the perinatologist performs a risk assessment for the fetus and mother. Expectant mothers who are classified as high-risk are taken to perinatology follow-up, while the others are followed up as part of standard/routine follow-up.

 

Conditions of the fetus (baby in the womb) in connection with the perinatologist

• Diagnosis and treatment of fetal structural anomalies (disabilities) by detailed ultrasound examination;
• Nuchal translucency measurement between 11 and 14 weeks (dual screening test);
• Diagnosis of genetic diseases that can be seen in fetuses;
• Diagnosis and treatment of increased (polyhydramnios) or decreased (oligohydramnios) amniotic fluid in pregnancy;
• Monitoring fetuses with delayed growth (growth retardation) by ultrasound and Doppler, planning the timing and method of delivery;
• Evaluation and treatment of fetuses and expectant mothers when infection is suspected during pregnancy or confirmed;
• Delivery of the anomalous fetus and postnatal management of the anomalous fetus with the appropriate pediatric subspecialty in families diagnosed with a fetal anomaly who have the potential to survive after birth or who choose to continue the pregnancy regardless of the severity of the anomaly;
• Monitoring of monochorionic twins and diagnosis and treatment of diseases that may occur in these twins;
• Embryo reduction (reducing the number of fetuses in multiple pregnancies of three or more by a series of procedures);
• Diagnostic procedures during pregnancy, such as chorionic villus sampling (CVS – taking a sample from the placenta), amniocentesis (AS - taking a sample from the amniotic fluid), or cordocentesis (PUBS - taking a sample of fetal blood through the umbilical cord);
• Recognition of complications that may occur in the fetus due to parental blood incompatibility and, if necessary, blood transfusion to the fetus during pregnancy in the womb (blood transfusion to an anemic fetus through the umbilical cord);
• Medical treatment (administration of medicine through the mother or directly to the fetus) in the womb for certain fetal conditions;
• Fetal surgery (surgical procedures performed on the mother and fetus under operating room conditions) for certain structural disorders of the fetus.

Conditions of high risk expectant mother (baby in the womb) in connection with the perinatologist

• Pregnancy-specific conditions such as hypertension before or after conception (chronic hypertension or preeclampsia) and gestational diabetes mellitus;
• Follow-up of high-risk pregnancies in patients with systemic diseases before pregnancy (chronic hypertension, heart disease, cancer, etc.);
• Identifying expectant mothers whose cervix has already been treated (conization, etc.) and/or whose cervix is shortened and therefore at risk for preterm delivery and taking initiate appropriate treatments/measures;
• Expectant mothers and pregnancy candidates with special conditions and high risk of pregnancy complications (transplant patients, repeated pregnancy losses, etc.);
• Conditions such as placenta previa (placenta covering the cervix) and placenta accreta (placenta adhering to the uterine wall lower than necessary), where there is a high risk of bleeding during labor.

Cases with a particularly high risk of development during pregnancy are the following

• Expectant mothers who were classified as high-risk expectant mothers in their previous pregnancy;
• Expectant mothers aged 35 years and older;
• Expectant mothers diagnosed with chromosomal abnormalities or fetal structural abnormalities in previous pregnancies;
• Expectant mothers with chronic diseases such as thyroid disease, heart disease, or diabetes;
• Expectant mothers previously diagnosed with gestational diabetes;
• Expectant mothers who are overweight or too thin;
• Expectant mothers and pregnancy candidates at high risk of complications (transplant patients, repeated pregnancy losses, cervical conization, etc.);
• Expectant mothers whose family members have been diagnosed with certain genetic diseases should consult a perinatologist before pregnancy if possible, or if pregnancy has already occurred, ensure that the pregnancy is monitored by a perinatologist as soon as possible.

In high-risk pregnancies, proper planning and timely interventions are important so that the pregnancy can be completed or follow a normal course, and communication with the expectant mother and family is important for this.

Treatment of fetal or maternal problems identified during pregnancy, planning of necessary postnatal interventions, and treatment management with associated subdivisions should be performed under the supervision of a perinatologist.

 

Prenatal (Before delivery / During pregnancy) Diagnostics

Prenatal diagnostics is the term used to describe the use of definitive diagnostic tests appropriate to each pregnancy when there is a high risk of possible structural and genetic diseases of the fetus. Some examples of structural pathologies that require prenatal diagnosis after detailed ultrasound examination are as follows:

• Severe growth retardation
• Amniotic fluid disorders (oligohydramnios – too low; polyhydramnios – too much)
• Fluid accumulations in different parts of the fetal body: cystic hygroma, nonimmune hydrops fetalis (NHHF), pleural effusion,
• Alterations of the fetal nervous system and neck: Hydrocephalus, ventriculomegaly, nuchal edema
• Cardiac anomalies
• Alterations of Fetal digestive system and abdominal wall: Duodenal atresia, omphalocele
• Alterations of urinary tract: Obstructive uropathy

In these cases, chromosomal analysis is required to diagnose and/or rule out a possible genetic abnormality in the pregnancy.

After a final diagnosis of the pregnancy and fetus, the family can decide whether to continue or terminate the pregnancy within their personal, social, and ethical principles. In addition, depending on the pathology/anomaly, the treatments that can be performed during the pregnancy or the measures that should be taken for the child after birth are planned together with the relevant pediatric subdepartments.

 

 

Which expectant mothers should undergo definitive prenatal diagnosis?

• Expectant mothers at risk according to the dual (combined), triple, and quadruple screening tests;
• Individuals whose cfDNA test results indicate an anomaly;
• Expectant mother with structural anomalies detected on detailed fetal ultrasound examination;
• Individuals who have one or more markers that increase the risk of chromosomal anomalies according to detailed fetal ultrasound examination;
• Individuals who have delivered a child with chromosomal anomalies in a previous pregnancy;
• The expectant mother or father is a carrier of a chromosomal anomaly;
• Expectant mother's anxiety and desire for a definitive diagnosis for various reasons.

 

Which diagnostic tests are performed according to the gestational week?

• Chorionic Villus Sampling (CVS) between 11-14 weeks of gestation;
• Amniocentesis (AFT) generally between 16-23 weeks of gestation;
• Cordocentesis (PUBS) starting from 20-22 weeks of gestation and cord blood is taken from the umbilical cord and genetic examination is performed.