Maternal - Fetal Medicine

Maternal-fetal medicine aims at preventing and minimizing obstetric and perinatal complications, which can have serious consequences on the mother’s and child’ health. Maternal-fetal medicine involves a multidisciplinary approach, which is based on the collaboration between specialists in obstetrics-gynecology, neonatology, genetics, cardiology, pediatric surgery and other fields. The aim is to provide personalized and integrated care, also taking into account the needs and preferences of the mother and of the family.

Maternal-fetal medicine is a medical specialty that deals with the diagnosis, monitoring and treatment of conditions that may emerge in relation to the mother or to the fetus during pregnancy. It concerns all pregnant women, but especially those who are at high risk of complications during pregnancy. This risk may be triggered by the advanced maternal age (over 35), family history of genetic diseases or birth defects, multiple pregnancies (twins or more), history of gestational loss or premature births, chronic diseases of the mother or abnormalities detected on ultrasound.

Supra-specialized obstetricians identify risk factors that can have an impact on both the pregnant woman and the fetus. Specialists are competent in the treatment of pathologies that can upset the smooth running of a pregnancy. As the name suggests, the specialty considers either the health of the mother and the risk factors that can affect her (maternal medicine), or the health of the fetus and the risk factors that can impact it (fetal medicine).

Embryos specialists in maternal-fetal medicine are obstetricians in charge of the complex assessment of pregnancy. We have top-of-the-line ultrasounds which, used by our accomplished specialists, help evaluate and correctly diagnose children during intrauterine life.

Consultation with a specialist in maternal-fetal medicine is recommended to all pregnant women, but especially to those who face one or more of the following issues:

• At-risk pregnancies – are pregnancies that pose an increased risk of complications to the mother or fetus, because of factors such as advanced maternal age (over 35), multiple pregnancies (twins or more), history of gestational diabetes, preeclampsia, placenta previa, premature rupture of membranes, antepartum or postpartum hemorrhage, etc. These pregnancies require careful and frequent monitoring of the mother and fetus health, as well as proper birth planning.
• Pregnancy complications – are issues that occur during pregnancy and can affect its evolution or endanger the life of the mother or fetus. Among the most common complications are: miscarriage, premature birth, intrauterine growth restriction, intrauterine infections, congenital malformations of the fetus, chromosomal abnormalities of the fetus, intrauterine fetal death, etc. These complications require early and accurate diagnosis, as well as adequate and prompt treatment.
• History of gestational loss or premature birth – these are situations that indicate a vulnerability of the pregnancy and may increase the risk of recurrence in subsequent pregnancies. Gestational loss refers to any miscarriage before a 24-week gestation period, regardless of the cause. Preterm birth refers to any birth that occurs before a 37-week gestation period.
• Fetal abnormalities – are deviations from the fetus standard development, which can be detected by ultrasound or other prenatal diagnostic techniques. Fetal abnormalities can be structural (affecting the organs or physiological systems of the fetus) or chromosomal (affecting the number or structure of the fetus chromosomes). Fetal abnormalities can have genetic, infectious, drug, toxic or unknown causes.
• Medical conditions of the mother – are chronic or acute diseases that can affect the health of the mother and have repercussions on pregnancy or the fetus. Among the most common medical conditions of the mother are: diabetes, hypertension, heart disease, kidney disease, thyroid disease, autoimmune diseases, hematological diseases, infectious diseases, mental illnesses, etc.

Fetal medicine involves a series of investigations that allow early identification of abnormalities in the fetus, as well as maternal diseases that can affect the evolution of pregnancy or endanger the life of the fetus.

First trimester morphology consists of a detailed examination of fetal structures, that is conducted between 11 weeks and 6 days and 13 weeks and 6 days of gestation. At this stage, the development of fetal organs is systematically studied, which provides information about the exact age of pregnancy, the existence of certain abnormalities, the risk of developing genetic syndromes such as Down, Edwards and Patau. This risk is established by corroborating ultrasound results with serum testing.

Second trimester morphology consists of a detailed examination of fetal structures that is performed between 19 weeks and 23 weeks, and aims to examine in detail the anatomy and development of the fetus. This investigation can detect possible structural abnormalities of the fetus, such as malformations of the skull, face, missing limbs, kidney or heart abnormalities. Second trimester fetal morphology is important to check if the fetus is developing normally and to establish appropriate treatment if there are problems. At this stage, the fetus is sufficiently developed for the doctor to conduct a clear assessment of body structures. Tests shall be conducted to find whether fetal measurements are appropriate to the gestational age, and an analysis of all structures and organs shall be performed. Also, the risk of premature birth shall be calculated, by evaluating the cervix.

Fetal morphology ultrasound shall be performed starting with week 28 of pregnancy, the ideal period being weeks 30-33. During the investigation, head circumference, femur length, and body weight shall be measured. The indexes obtained shall be compared with standard values. Ultrasound can reveal whether there exist issues, such as growth restriction, functionality of the fetus organs, identification of possible malformations.

3-4D ultrasound is a type of obstetric ultrasound that allows visualization of the fetus in three dimensions and in real time. This type of ultrasound is mainly aimed at increasing the emotional bond between parents and baby, by providing realistic images of the face and movements of the fetus. Also, 3-4D ultrasound can be useful in some situations to better study the anatomy of the fetus and to detect possible malformations or abnormalities. It does not replace regular ultrasounds or fetal morphology, but it is an optional and additional examination.

Investigations performed by specialists in maternal-fetal medicine are essential in assessing the health of the mother and of the fetus. At Embryos, our specialist doctors perform the full range of ultrasounds required to monitor pregnancy.

High-performance equipment, endorsed by the experience of our gynecologists assure pregnant women that they are in good hands. In the first trimester of pregnancy, screening for chromosomal abnormalities is vital. Conditions such as Down syndrome (Trisomy 21), Patau syndrome (Trisomy 13), Edwards syndrome (Trisomy 18) can be identified at this stage. In the second trimester, screening for congenital anomalies can be performed. Birth defects may be less obvious at birth, but develop as the baby grows. They can cause mental or physical disability, from minor to very serious forms. The cause is abnormal embryonic development. When there is a suspicion or confirmation of genetic issues, maternal-fetal medicine specialists establish a pregnancy monitoring strategy, which they carefully direct, so that the pregnant woman can safely carry the pregnancy to term. Our specialists have a series of investigations available to monitor the mother and the fetus. In addition, when necessary, the gynecologist shall refer the pregnant woman to various related specialties, which contributes to maintaining them in good health.

Genetic diseases are conditions that occur as a result of changes in the hereditary material (DNA) in the cells of the body. These changes can be inherited from parents or occur spontaneously, during fetus development. Genetic diseases can affect various organs and systems of the body and trigger symptoms ranging from mild to severe.

The human karyotype is the graphic representation of the number and shape of chromosomes in human somatic cells. Chromosomes are structures made up of DNA and proteins, that contain the genetic information of the organism. The human karyotype is obtained by photographing, cutting and arranging chromosomes according to certain criteria, such as size, shape and position of the centromere (the region connecting the two chromatids of a chromosome).

Trisomy is a chromosomal abnormality, in which there are three copies of one of the chromosomes instead of two. Trisomy can affect various chromosomes and cause genetic syndromes having varying degrees of severity.

Trisomy 21 is the most common form of trisomy and is also known as Down syndrome. It causes mental retardation, distinctive facial features, heart conditions, and other physical abnormalities.

Trisomy 13 is a rare and severe form of trisomy and is also known as Patau syndrome. It causes significant mental retardation, malformations of the head, face, eyes, heart, kidneys and other organs.

Trisomy 16 is the most common form of trisomy that occurs at conception, but is incompatible with life. This causes miscarriage in the first trimester of pregnancy.

Trisomy 18 is a rare and severe form of trisomy and is also known as Edwards syndrome. It causes profound mental retardation, malformations of the skull, face, hands, feet, heart and other organs.

Genetic counseling is recommended to pregnant women when there are abnormal results of prenatal screening tests, a history of miscarriage, previous premature births, previous birth of a child with issues, exposure to external factors that can affect fetal development.