Ultrasounds
All women are at some risk of having a child with Down's Syndrome or Mongolism. This is the most common chromosomal abnormality caused by the existence of an extra chromosome 21, which is why it is called Trisomy 21.
Combined 1st trimester screening is a non-invasive test that identifies fetuses at risk of Down's Syndrome.
The calculation of the individual risk to the fetus is based on the following parameters:
- Maternal age
- 1st trimester ultrasound
- Collection of maternal blood for quantification of free B-hCG and PAPP-A (substances produced by the placenta).
DETAILED MORPHOLOGICAL STUDY
Detailed study of the fetal anatomy allowing the diagnosis of congenital anomalies and the detection of minor echographic markers suggestive of chromosomopathies and genetic syndromes.
Fetal biometry (measurement of cephalic and abdominal perimeters, femur and humerus compression).
Study of the placenta and amniotic fluid.
Assessment of the pregnant woman's cervix (predictive value in the threat of preterm birth).
Flowmetry of the uterine arteries (predictive value in fetal growth restriction and maternal gestational hypertension).
Studies with predictive value are evaluations that have the power to predict the risk of certain pathologies occurring in the ongoing pregnancy, allowing measures to be taken to prevent them or minimize their harmful effects on the fetus and the pregnant woman.
When this test is normal, the risk of chromosomal abnormality, previously calculated in the first trimester, is halved. For example, if in the first trimester the combined screening calculated the risk of the fetus having a trisomy 21 at 1/5000. After a normal morphological study, this risk will drop to 1/10000.
This test can be complemented by a fetal echocardiogram, at the same gestational age and in the following situations:
Diagnosis or suspicion of fetal cardiac pathology
Technical difficulty in assessing the fetal heart
Indication as per worldwide protocol (parents or siblings with heart disease, diabetic mother, increased nuchal translucency with normal karyotype, increased risk of chromosomal disease with refusal of invasive diagnostic test).
It takes place between 30-34 weeks of gestation and can be brought forward to 28 weeks in situations where there is a risk of fetal growth restriction.
STUDY OF FETAL GROWTH AND WELL-BEING
Its aim is to assess fetal growth and well-being through biometry, weight estimation, biophysical profile and Doppler evaluation of fetal compartments.
Fetal growth: Measuring fetal biometric parameters makes it possible to determine whether the fetal growth rate is appropriate for gestational age and to exclude abnormal deviations, namely fetuses that are small for gestational age (growth restriction) or large for gestational age (macrosomia).
Fetal wellbeing: assessment to rule out fetal distress due to lack of oxygen (for example) by studying the volume of amniotic fluid, biophysical profile and Doppler study of fetal compartments.
Fetal presentation (normal -eutocic- delivery requires the fetus to have a longitudinal attitude and cephalic presentation), other types of presentations presuppose an occasional elective caesarean section.
Morphological assessment of organs and systems that develop during pregnancy, particularly the brain and kidneys.
Exclusion of diseases acquired during pregnancy, particularly congenital infections.
Ultrasounds carried out in all three trimesters of pregnancy are complementary and of equal importance in assessing the fetus. The omission of one of them leads to the loss of the opportunity to diagnose or suspect certain pathologies.
Three-dimensional ultrasound is not necessary for the study of the fetus. There are specific situations in which its use may be useful, but as a complement to two-dimensional ultrasound and on medical advice. In other situations, viewing the fetus in 3-D only serves as an emotional comfort to the parents and should be carried out after excluding anomalies.
Unfortunately, ultrasound, even if carried out by trained professionals, using top-of-the-range equipment and at the appropriate gestational ages, does not diagnose all potential fetal diseases.
Invasive techniques
NORMAL RESULT
Most pregnant women who have a CVS or an amniocentesis have a normal result and the pregnancy proceeds without complications. However, a normal karyotype does not exclude the possibility of another type of anomaly, particularly a structural one. For this reason, a morphological study should always be carried out at 22 weeks; in some cases, other tests may be indicated to study the fetus, such as a fetal echocardiogram.
ABNORMAL RESULT
In a minority of cases, the result of CVS or amniocentesis may be abnormal. This result may be associated with fetal or neonatal death, mental retardation or reduced quality of life. In other cases, the result does not imply cognitive impairment of behavior or relationship life.
We guarantee accurate information about the anomaly and ensure that you can make an appointment with a specialist for advice.
When the couple decides to continue the pregnancy, we will try to keep them in touch with support groups so that they can improve their knowledge of their child's illness and exchange experiences with other parents.
In cases where you choose to terminate the pregnancy, we ensure referral to a Prenatal Diagnostic Center, as well as future genetic counseling.
Chorionic villus biopsy is an invasive test to study fragments of the placenta. Both the baby and the placenta develop from the same cells, so the study of placental cells makes it possible to analyze the composition of the fetus's chromosomes.
How is BVC carried out?
After local anesthesia, a thin needle is inserted through the mother's abdomen into the uterus in order to take a sample of the placenta. The path of the needle is monitored by ultrasound to ensure that no damage is done to the fetus. The procedure takes around 2 to 3 minutes. At the end, it is confirmed that the fetal heartbeat remains normal.
What can I feel after CVS?
In the first few days after the procedure, you may experience abdominal discomfort, menstrual pain or a little vaginal bleeding (called spotting). These symptoms are very common and, in the vast majority of cases, the pregnancy continues without complications. Taking 1g of oral paracetamol in SOS (up to 3 a day) can relieve abdominal discomfort and has no contraindications for the baby. If you develop severe pain, heavy vaginal bleeding or fever, you should contact your doctor or local hospital.
When can I expect to receive the results?
The preliminary results (rapid karyotype by PCR) will be ready after 48 to 72 hours and the final results (conventional karyotype by culture) after two weeks. As soon as we know, the results will be communicated successively by telephone and a report will then be provided.
Amniocentesis involves inserting a fine needle through the mother's abdomen into the uterus to take a small sample of amniotic fluid. Amniocentesis provides the same information as CVS, but in order to give reliable results it should be carried out after 16 weeks. The results take approximately two weeks and will be communicated initially by telephone and later in writing. The risk of miscarriage after amniocentesis is 1%. In 1% of cases, the test may have to be repeated at the request of the laboratory because the results are inconclusive.
Other tests
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The suspicion of a fetal brain anomaly is a crucial issue for the family and professionals involved with this patient. In recent years, the development of fetal brain imaging has been remarkable, based on the acquisition of knowledge and techniques in neurosonography and magnetic resonance imaging of the fetal brain. This is of enormous importance in the context of prenatal diagnosis, since, in the light of current knowledge and the expectations of families, the correct diagnosis and counseling of fetal brain pathologies is imperative.
INDICATIONS FOR NEUROSONOGRAPHY:
- Ventriculomegaly;
- Microcephaly or Macrocephaly;
- Suspected midline anomalies: alteration or failure to visualize the cavum septi pellucidi, corpus callosum or other structures of the anterior complex or posterior complex;
- Suspected posterior fossa malformation: alterations in the morphology and/or size of the 4th ventricle, the cisterna magna or the vermis and/or the hemispheres of the cerebellum;
- Suspicion of cortical dysgenesis, either due to abnormal development of the cerebral sulci or changes in the morphology of the frontal horns of the lateral ventricles in the axial plane, or due to the existence of a previous case in the family;
- Suspected or confirmed infection with cytomegalovirus or any other agent of the TORCHS group;
- Suspected or confirmed maternal Zika virus infection;
- Situations where hypoxic-ischemic injury (white matter injury) is possible: Monochorionic pregnancies especially when there is death of one of the twins or when there is selective RCF type 3, maternal pathology with cerebral hypoperfusion, fetal supraventricular tachycardia, severe isoimmunization with intrauterine transfusions, CMV and other infections (ZIKA), Congenital heart disease;
- Enlargement or reduction of the subaranoid space;
- Presence of brain cysts;
- Suspected cerebral hemorrhages;
- Severe or early fetal growth restriction.