FETAL MEDICINE

WHAT IS IT USED FOR?
It is the first ultrasound of pregnancy. It is indicated to confirm the correct implantation of the embryo and the presence of cardiac activity. In addition, it is used to accurately estimate the gestational age of the embryo.

WHEN IS IT PERFORMED?
It is performed between the 6 th and the 9 th weeks of pregnancy (counting from the first day of the last menstrual period).

HOW IS THE TEST PERFORMED?
The study is performed transvaginally. It is a completely harmless for the embryo and it is not painful for the patient; it can only cause slight discomfort in some cases.

WHAT WILL I SEE DURING THE ULTRASOUND?
During the ultrasound, the gestational sac (sac containing the embryo), embryo length and fetal heart rate will be assessed. The ovaries will also be observed.

In some embryos, especially when the ultrasound is performed around week 9, movements can already be observed.

The anatomy of the embryo cannot yet be evaluated during this ultrasound because of its small size.

WHAT COMPLEMENTARY STUDIES MAY BE NECESSARY AFTER THIS ULTRASOUND?
In cases where the embryo cannot be visualized or cardiac activity is not detected, it is suggested to repeat the study in 7 to 10 days.

WHAT IS IT USED FOR?
The first trimester combined screening is a test that allows the identification of patients with an increased risk of their baby having genetic anomalies, especially trisomy 21 (Down syndrome), trisomy 18 (Edwards' syndrome) and trisomy 13 (Patau's syndrome). In addition, it allows to study fetal anatomy for the first time and to detect a large number of fetal anomalies, some of them very severe.

On the other hand, this study allows detection of pregnant women with an increased risk of developing preeclampsia at early gestational age. Preeclampsia is a pregnancy hypertensive disorder and is one of the main causes of adverse outcomes for the mother and fetus. Thanks to the early detection of patients at risk, it is possible to prevent the development of preeclampsia and its undesirable consequences.

WHEN IS IT PERFORMED?
It is performed between 11+0 weeks+days and 13+6 weeks+days of pregnancy.

HOW IS THE TEST PERFORMED?
The study consists of a risk calculation based on maternal history, ultrasound markers (measured during the scan) and biochemical markers (measured in maternal blood).

Ultrasonography is performed transabdominally in most cases. However, due to the mother's physical built, the position of the uterus or the position of the fetus, it may be necessary to perform a transvaginal scan.

WHAT WILL I SEE DURING THE ULTRASOUND?
During the ultrasound, the fetal anatomy (head, brain, face, thorax, heart, abdomen, pelvis, spine and extremities) will be seen. Ultrasound markers will also be assessed and used for risk calculation (nuchal translucency, nasal bone, tricuspid heart valve, flow in the fetal ductus venosus and flow in the maternal uterine arteries).

Frequent fetal movements will be seen during the study.

WHAT COMPLEMENTARY STUDIES MAY BE NECESSARY AFTER THIS ULTRASOUND?
In case of a low-risk for chromosomal problems, routine pregnancy controls will be continued. In case of a high- risk for chromosomal problems (trisomy 21, 18 or 13), a consultation with medical genetics will be suggested and you will be offered an ultrasound-guided puncture to obtain a sample of placental tissue or amniotic fluid to rule out or confirm a chromosomal abnormality. In some specific cases with increased risk for chromosomal problems, a cell free DNA test in maternal blood may be performed.

In case of high-risk for early preeclampsia and/or fetal growth restriction, your obstetrician may suggest prophylaxis with low dose aspirin and growth scans with Doppler assessment in the third trimester of pregnancy.

WHAT IS IT USED FOR?
A detailed anatomy scan is a specialized ultrasound study for the detection of both major and minor anomalies.

WHEN IS IT PERFORMED?
It is performed between the 20th and 24th week, once the fetus is fully formed and it is large enough to allow detailed evaluation of all the structures.

HOW IS THE TEST PERFORMED?
The study is performed transabdominally.

WHAT WILL I SEE DURING THE ULTRASOUND?
During the anatomy scan all the organs and body segments of the fetus will be observed. It will also be feasible to determine fetal sex. At this gestational age the baby has a larger size than that observed during the first trimester, so it is generally not possible to obtain full body pictures; but the fetal profile can be seen in detail.

WHAT COMPLEMENTARY STUDIES MAY BE NECESSARY AFTER THIS ULTRASOUND?
If a fetal malformation is detected or suspected, it may be necessary to perform detailed complementary ultrasound studies of the heart (echocardiogram) or brain (neurosonography), as well as magnetic resonance imaging. Also, in the presence of some abnormal findings, a consultation with a medical geneticist and the performance of an ultrasound-guided puncture to obtain a sample of amniotic fluid to detect associated genetic syndromes may be suggested.

WHAT IS IT USED FOR?
Measuring the cervix (part of the uterus that dilates during labor) allows the detection of those women who are at increased risk of having a premature delivery.

WHEN IS IT PERFORMED?
In patients without risk factors for preterm labor this study is performed together with the detailed anatomy scan between the 20th and 24 th week. In patients with a history of preterm labor or who have undergone some type of surgery on the cervix, this study may be requested before 20 weeks.

HOW IS THE TEST PERFORMED?
The study is performed transvaginally. This is a completely harmless procedure for the fetus and in general it is not painful for the patient; it can only cause slight discomfort in a few cases.

WHAT WILL I SEE DURING THE ULTRASOUND?
The cervix will be visualized and the cervical canal (part of the uterus that dilates during labor) will be measured.

WHAT COMPLEMENTARY STUDIES MAY BE NECESSARY AFTER THIS ULTRASOUND?
In patients with a short cervix or with a history of previous preterm labor or cervical surgery, it may be necessary to repeat this study throughout the pregnancy.

WHAT IS IT USED FOR?
It allows a detailed study of the cardiac anatomy of the fetus. It is requested in patients at increased risk for heart disease (e.g., diabetes, family history of heart disease, maternal lupus, etc.).

WHEN IS IT PERFORMED?
The optimal gestational age for this study is between the 20th and 24th weeks.

HOW IS THE TEST PERFORMED?
The study is performed transabdominally.

WHAT WILL I SEE DURING THE ULTRASOUND?
During the ultrasound, only the fetal heart will be studied. The heart chambers and the walls that divide them, the main veins and arteries connected to the heart, and all the heart valves will be seen. In addition, the fetal heart rate and rhythm will be studied.

WHAT OTHER TESTS MAY BE NECESSARY?
If a cardiac anomaly is detected, a consultation with a medical geneticist and an ultrasound-guided puncture may be suggested to obtain a sample of amniotic fluid to detect associated genetic syndromes.

WHAT IS IT USED FOR?
Three-dimensional ultrasound scans enable to obtain realistic pictures of the fetus' face.

WHEN IS IT PERFORMED?
It is performed between the 26th and 29th week, since at this gestational age the fetus is fully formed and, as it begins to gain weight, its features are much more defined.

HOW IS THE TEST PERFORMED?
The study is performed transabdominally.

WHAT WILL I SEE DURING THE ULTRASOUND?
A 3D ultrasound allows you to see a static three-dimensional image of the fetal face. In a 4D ultrasound, three- dimensional video images of the fetus are obtained in real time (it allows you to see the fetus perform movements and gestures) and a 5D ultrasound allows you to improve lighting and the appearance of the surface of the fetal skin to increase the realism of the 3D and 4D images. The quality of the three-dimensional images depends to a great extent on the fetal position and the physical build of the pregnant woman.

WHAT COMPLEMENTARY STUDIES MAY BE NECESSARY AFTER THIS ULTRASOUND?
If a fetal malformation is detected or suspected, it may be necessary to perform detailed complementary ultrasound studies of the heart or brain, or a study of the fetus by magnetic resonance imaging may be suggested. Also, in the case of some abnormal findings, a consultation with a medical geneticist and the performance of an ultrasound-guided puncture to obtain a sample of amniotic fluid to detect associated genetic syndromes may be suggested.

WHAT IS IT USED FOR?
It allows us to study in detail the anatomy of the central nervous system of the fetus. It is requested in fetuses with suspected brain or spinal anomalies.

WHEN IS IT PERFORMED?
The optimal gestational age to perform this study is around the 28th week.

HOW IS THE TEST PERFORMED?
The study is performed transabdominally and if the fetus is in cephalic presentation (head down), a transvaginal ultrasound may be necessary. This is a completely harmless procedure for the fetus and in general, is not painful for the patient; it can only cause mild discomfort in a few cases.

WHAT WILL I SEE DURING THE ULTRASOUND?
During the ultrasound, only the fetal head (skull, brain, and face) and the fetal spine (vertebrae and spinal cord) will be studied.

WHAT STUDIES MAY BE NECESSARY?
If an anomaly in the central nervous system is detected, a consultation with medical geneticist and the performance of an ultrasound-guided puncture to obtain a sample of amniotic fluid may be suggested to detect associated genetic syndromes. A fetal MRI will also be recommended.

WHAT IS IT USED FOR?
This ultrasound is used to corroborate that the baby is growing within the limits of normality (not too big or too small). It also allows us to determine the fetal presentation (position of the head).

WHEN IS IT PERFORMED?
The ideal gestational age to perform this ultrasound in patients at low risk for fetal growth problems is 36 weeks. In patients with an increased risk of fetal growth retardation, it can be performed as early as 28 weeks.

HOW IS THE TEST PERFORMED?
This study is performed through the abdominal route.

WHAT WILL I SEE DURING THE ULTRASOUND?
The images at such advanced gestational ages are usually very limited due to the small amount of amniotic fluid and the advanced calcification of the baby's bones that produce shadows in the images. Measurements of head circumference (head size), abdominal circumference (size of the abdomen) and femur (thigh bone) length will be seen.

WHAT STUDIES MAY BE NECESSARY?
If fetal growth restriction (small for gestational-age baby) is observed, it may be necessary to perform a Doppler ultrasound of the fetal-placental circulation and repeat the entire study in the short term.

WHAT IS IT USED FOR?
This ultrasound is used to study fetal and placental blood circulation. It can detect mothers who are at risk of developing preeclampsia (hypertension during pregnancy), anemic fetuses, fetuses at increased risk of heart disease, and those fetuses that are not receiving the necessary amount of oxygen and nutrients from the placenta. In twin pregnancies, it is used to detect typical complications of multiple pregnancies.

WHEN IS IT PERFORMED?
The study of the uterine arteries to detect patients at risk of developing preeclampsia can be performed from week 11 onwards. The study of the middle cerebral artery to detect fetal anemia can be performed from 16 weeks. The fetal circulation study to detect those at increased risk of heart disease is performed together with the combined first-trimester screening. The study of fetoplacental circulation to detect those fetuses that are not receiving the necessary amount of oxygen and nutrients from the placenta is performed from 24 weeks. The Doppler study in twin pregnancies is performed from week 16 onwards, depending on the case.

HOW IS THE TEST PERFORMED?
This study is performed transabdominally. On very few occasions, especially in the first trimester of pregnancy, it may be necessary to perform a transvaginal ultrasound to adequately study the uterine arteries. This is a completely harmless procedure for the fetus and in general, is not painful for the patient, it can only cause slight discomfort in some rare cases.

WHAT WILL I SEE DURING THE ULTRASOUND?
The Doppler is a very technical study in which you will be able to see the vessels to be investigated highlighted in red or blue depending on the direction in which the blood moves within the vessel. In addition, waves will be observed representing the changes in the velocity of the blood within the vessel over a certain period. In general, these correspond to the acceleration of the blood during cardiac contraction (systole) and its deceleration during cardiac relaxation (diastole).

WHAT OTHER TESTS MAY BE NECESSARY?
If abnormalities are detected in a Doppler study, whatever its indication, it is likely that you will be asked to repeat this same study in a relatively short period.

WHAT IS IT?
It is an ultrasound-guided invasive procedure (puncture).

WHAT IS IT USED FOR?
It is used to take a sample of placental tissue for genetic testing on the fetus.

WHEN IS IT PERFORMED?
It is performed after 16 weeks.

HOW IS THE TEST PERFORMED?
The study is performed transabdominally in the scanning room. A small anesthetic injection will be placed in the skin of the puncture site and through constant ultrasound visualization of the puncture needle, it will be introduced into the placental tissue and the necessary sample will be taken.

IS IT A PAINFUL TEST?
The vast majority of women experience only mild discomfort.

HOW LONG DOES THE TEST TAKE?
It only takes a few minutes to collect the sample. Once the study has been performed, the patient will remain lying down for 5 to 10 minutes and a last scan will be performed to assess fetal vitality and the puncture site in the placenta. The patient will be able to leave immediately after.

IS THIS PROCEDURE DANGEROUS FOR ME OR FOR THE FETUS?
In expert hands, the risk of maternal and fetal complications of this type of study is less than 0.5%.

WHAT IS IT?
It is an ultrasound-guided invasive procedure (puncture).

WHAT IS IT USED FOR?
It is used to take a sample of amniotic fluid and to perform genetic studies on the fetus.

WHEN IS IT PERFORMED?
It is performed after 16 weeks.

HOW IS THE TEST PERFORMED?
The study is performed transabdominally in the scanning room. A small anesthetic injection will be placed in the skin of the puncture site and through constant ultrasound visualization of the puncture needle, it will be introduced into the placental tissue and the necessary sample will be taken.

IS IT A PAINFUL TEST?
The vast majority of women experience only mild discomfort.

HOW LONG DOES THE TEST TAKE?
It only takes a few minutes to collect the sample. Once the study has been performed, the patient will remain lying down for 5 to 10 minutes and a last scan will be performed to assess fetal vitality and the puncture site in the placenta. The patient will be able to leave immediately after.

IS THIS PROCEDURE DANGEROUS FOR ME OR FOR THE FETUS?
In expert hands, the risk of maternal and fetal complications of this type of study is less than 0.5%.

WHAT IS IT?
It is a non-invasive method to genetically study the fetus. It consists of a laboratory test that looks for small fragments of placental DNA circulating in the maternal blood and study them.

WHAT IS IT USED FOR?
It is the best method currently available to detect fetuses at increased risk for trisomy 21 (Down syndrome) with a detection rate close to 100% and a very small false positive rate. It also studies chromosomes 18 and 13 to detect fetuses at increased risk for trisomy 18 (Edwards' syndrome) and trisomy 13 (Patau's syndrome). In addition, it can determine fetal sex.

WHEN IS IT PERFORMED?
The test consists of taking a blood sample from the pregnant woman's arm, just like any other laboratory test.

HOW IS THE TEST PERFORMED?
The study consists of taking a blood sample from the pregnant woman's arm, just like any other laboratory study.

HOW LONG DOES IT TAKE TO OBTAIN THE RESULT?
The result of the study takes approximately 2 weeks.

IS THIS PROCEDURE DANGEROUS FOR THE FETUS?
There is no risk to the fetus.

WHAT OTHER STUDIES MIGHT BE NECESSARY AFTER THIS TEST?
This test has a much higher detection rate for trisomy 21 (Down syndrome) than the combined first-trimester screening, but it does not allow to study the fetal anatomy since it is only a laboratory test and not an ultrasound examination. For this reason, the test for free fetal DNA circulating in maternal blood does not replace the combined first-trimester screening, but complements it.

If a low-risk result for chromosomal abnormalities is informed in this test, routine pregnancy controls (detailed anatomical scan) will be followed. As the test has a very small false positive rate, if a high-risk result for chromosomal abnormalities (trisomy 21, 18 or 13) is informed, you will be offered an ultrasound-guided puncture to sample the placenta or the amniotic fluid to confirm the genetic condition.